Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2169772delCA934420210THc.192del (p.Asp66ThrfsTer17)
c.91-75del (n.91-75del)
c.103-75del (n.103-75del)
c.273del (p.Asp93ThrfsTer17)
c.285del (p.Asp97ThrfsTer17)
c.204del (p.Asp70ThrfsTer17)
 ClinVar dbSNP
11g.2169771G>ACA379112352THc.191C>T (p.Pro64Leu)
c.91-76C>T (n.91-76C>T)
c.103-76C>T (n.103-76C>T)
c.272C>T (p.Pro91Leu)
c.284C>T (p.Pro95Leu)
c.203C>T (p.Pro68Leu)
11g.2169771G>CCA379112354THc.191C>G (p.Pro64Arg)
c.91-76C>G (n.91-76C>G)
c.103-76C>G (n.103-76C>G)
c.272C>G (p.Pro91Arg)
c.284C>G (p.Pro95Arg)
c.203C>G (p.Pro68Arg)
11g.2169771G>TCA379112353THc.191C>A (p.Pro64His)
c.91-76C>A (n.91-76C>A)
c.103-76C>A (n.103-76C>A)
c.272C>A (p.Pro91His)
c.284C>A (p.Pro95His)
c.203C>A (p.Pro68His)
11g.2169772G>ACA5818770THc.190C>T (p.Pro64Ser)
c.91-77C>T (n.91-77C>T)
c.103-77C>T (n.103-77C>T)
c.271C>T (p.Pro91Ser)
c.283C>T (p.Pro95Ser)
c.202C>T (p.Pro68Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2169772G>CCA379112355THc.190C>G (p.Pro64Ala)
c.91-77C>G (n.91-77C>G)
c.103-77C>G (n.103-77C>G)
c.271C>G (p.Pro91Ala)
c.283C>G (p.Pro95Ala)
c.202C>G (p.Pro68Ala)
11g.2169772G=CA1948009672THc.190C= (p.Pro64=)
c.91-77C= (n.91-77C=)
c.103-77C= (n.103-77C=)
c.271C= (p.Pro91=)
c.283C= (p.Pro95=)
c.202C= (p.Pro68=)
11g.2169772G>TCA379112356THc.190C>A (p.Pro64Thr)
c.91-77C>A (n.91-77C>A)
c.103-77C>A (n.103-77C>A)
c.271C>A (p.Pro91Thr)
c.283C>A (p.Pro95Thr)
c.202C>A (p.Pro68Thr)
11g.2169773C>ACA379112357THc.189G>T (p.Glu63Asp)
c.91-78G>T (n.91-78G>T)
c.103-78G>T (n.103-78G>T)
c.270G>T (p.Glu90Asp)
c.282G>T (p.Glu94Asp)
c.201G>T (p.Glu67Asp)
11g.2169773C>GCA379112358THc.189G>C (p.Glu63Asp)
c.91-78G>C (n.91-78G>C)
c.103-78G>C (n.103-78G>C)
c.270G>C (p.Glu90Asp)
c.282G>C (p.Glu94Asp)
c.201G>C (p.Glu67Asp)
11g.2169773C>TCA472018848THc.189G>A (p.Glu63=)
c.91-78G>A (n.91-78G>A)
c.103-78G>A (n.103-78G>A)
c.270G>A (p.Glu90=)
c.282G>A (p.Glu94=)
c.201G>A (p.Glu67=)
11g.2169774T>ACA379112359THc.188A>T (p.Glu63Val)
c.91-79A>T (n.91-79A>T)
c.103-79A>T (n.103-79A>T)
c.269A>T (p.Glu90Val)
c.281A>T (p.Glu94Val)
c.200A>T (p.Glu67Val)
11g.2169774T>CCA379112360THc.188A>G (p.Glu63Gly)
c.91-79A>G (n.91-79A>G)
c.103-79A>G (n.103-79A>G)
c.269A>G (p.Glu90Gly)
c.281A>G (p.Glu94Gly)
c.200A>G (p.Glu67Gly)
11g.2169774T>GCA379112361THc.188A>C (p.Glu63Ala)
c.91-79A>C (n.91-79A>C)
c.103-79A>C (n.103-79A>C)
c.269A>C (p.Glu90Ala)
c.281A>C (p.Glu94Ala)
c.200A>C (p.Glu67Ala)
11g.2169775C>ACA379112362THc.187G>T (p.Glu63Ter)
c.91-80G>T (n.91-80G>T)
c.103-80G>T (n.103-80G>T)
c.268G>T (p.Glu90Ter)
c.280G>T (p.Glu94Ter)
c.199G>T (p.Glu67Ter)
11g.2169775C>GCA379112364THc.187G>C (p.Glu63Gln)
c.91-80G>C (n.91-80G>C)
c.103-80G>C (n.103-80G>C)
c.268G>C (p.Glu90Gln)
c.280G>C (p.Glu94Gln)
c.199G>C (p.Glu67Gln)
11g.2169775C>TCA379112363THc.187G>A (p.Glu63Lys)
c.91-80G>A (n.91-80G>A)
c.103-80G>A (n.103-80G>A)
c.268G>A (p.Glu90Lys)
c.280G>A (p.Glu94Lys)
c.199G>A (p.Glu67Lys)
11g.2169776C>ACA472018849THc.186G>T (p.Ser62=)
c.91-81G>T (n.91-81G>T)
c.103-81G>T (n.103-81G>T)
c.267G>T (p.Ser89=)
c.279G>T (p.Ser93=)
c.198G>T (p.Ser66=)
11g.2169776C=CA1948009676THc.186G= (p.Ser62=)
c.91-81G= (n.91-81G=)
c.103-81G= (n.103-81G=)
c.267G= (p.Ser89=)
c.279G= (p.Ser93=)
c.198G= (p.Ser66=)
11g.2169776C>GCA472018850THc.186G>C (p.Ser62=)
c.91-81G>C (n.91-81G>C)
c.103-81G>C (n.103-81G>C)
c.267G>C (p.Ser89=)
c.279G>C (p.Ser93=)
c.198G>C (p.Ser66=)
11g.2169776C>TCA5818771THc.186G>A (p.Ser62=)
c.91-81G>A (n.91-81G>A)
c.103-81G>A (n.103-81G>A)
c.267G>A (p.Ser89=)
c.279G>A (p.Ser93=)
c.198G>A (p.Ser66=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169777G>ACA5818772THc.185C>T (p.Ser62Leu)
c.91-82C>T (n.91-82C>T)
c.103-82C>T (n.103-82C>T)
c.266C>T (p.Ser89Leu)
c.278C>T (p.Ser93Leu)
c.197C>T (p.Ser66Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169777G>CCA5818773THc.185C>G (p.Ser62Trp)
c.91-82C>G (n.91-82C>G)
c.103-82C>G (n.103-82C>G)
c.266C>G (p.Ser89Trp)
c.278C>G (p.Ser93Trp)
c.197C>G (p.Ser66Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2169777G=CA1948009679THc.185C= (p.Ser62=)
c.91-82C= (n.91-82C=)
c.103-82C= (n.103-82C=)
c.266C= (p.Ser89=)
c.278C= (p.Ser93=)
c.197C= (p.Ser66=)
11g.2169777G>TCA379112365THc.185C>A (p.Ser62Ter)
c.91-82C>A (n.91-82C>A)
c.103-82C>A (n.103-82C>A)
c.266C>A (p.Ser89Ter)
c.278C>A (p.Ser93Ter)
c.197C>A (p.Ser66Ter)
11g.2169778A>CCA379112366THc.184T>G (p.Ser62Ala)
c.91-83T>G (n.91-83T>G)
c.103-83T>G (n.103-83T>G)
c.265T>G (p.Ser89Ala)
c.277T>G (p.Ser93Ala)
c.196T>G (p.Ser66Ala)
11g.2169778A>GCA379112368THc.184T>C (p.Ser62Pro)
c.91-83T>C (n.91-83T>C)
c.103-83T>C (n.103-83T>C)
c.265T>C (p.Ser89Pro)
c.277T>C (p.Ser93Pro)
c.196T>C (p.Ser66Pro)
11g.2169778A>TCA379112367THc.184T>A (p.Ser62Thr)
c.91-83T>A (n.91-83T>A)
c.103-83T>A (n.103-83T>A)
c.265T>A (p.Ser89Thr)
c.277T>A (p.Ser93Thr)
c.196T>A (p.Ser66Thr)
11g.2169779G>ACA216227719THc.183C>T (p.Pro61=)
c.91-84C>T (n.91-84C>T)
c.103-84C>T (n.103-84C>T)
c.264C>T (p.Pro88=)
c.276C>T (p.Pro92=)
c.195C>T (p.Pro65=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2169779G>CCA472018851THc.183C>G (p.Pro61=)
c.91-84C>G (n.91-84C>G)
c.103-84C>G (n.103-84C>G)
c.264C>G (p.Pro88=)
c.276C>G (p.Pro92=)
c.195C>G (p.Pro65=)
11g.2169779G=CA1948009682THc.183C= (p.Pro61=)
c.91-84C= (n.91-84C=)
c.103-84C= (n.103-84C=)
c.264C= (p.Pro88=)
c.276C= (p.Pro92=)
c.195C= (p.Pro65=)
11g.2169779G>TCA472018852THc.183C>A (p.Pro61=)
c.91-84C>A (n.91-84C>A)
c.103-84C>A (n.103-84C>A)
c.264C>A (p.Pro88=)
c.276C>A (p.Pro92=)
c.195C>A (p.Pro65=)
11g.2169780G>ACA5818774THc.182C>T (p.Pro61Leu)
c.91-85C>T (n.91-85C>T)
c.103-85C>T (n.103-85C>T)
c.263C>T (p.Pro88Leu)
c.275C>T (p.Pro92Leu)
c.194C>T (p.Pro65Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2169780G>CCA379112369THc.182C>G (p.Pro61Arg)
c.91-85C>G (n.91-85C>G)
c.103-85C>G (n.103-85C>G)
c.263C>G (p.Pro88Arg)
c.275C>G (p.Pro92Arg)
c.194C>G (p.Pro65Arg)
11g.2169780G=CA1948009685THc.182C= (p.Pro61=)
c.91-85C= (n.91-85C=)
c.103-85C= (n.103-85C=)
c.263C= (p.Pro88=)
c.275C= (p.Pro92=)
c.194C= (p.Pro65=)
11g.2169780G>TCA5818775THc.182C>A (p.Pro61His)
c.91-85C>A (n.91-85C>A)
c.103-85C>A (n.103-85C>A)
c.263C>A (p.Pro88His)
c.275C>A (p.Pro92His)
c.194C>A (p.Pro65His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2169781G>ACA379112370THc.181C>T (p.Pro61Ser)
c.91-86C>T (n.91-86C>T)
c.103-86C>T (n.103-86C>T)
c.262C>T (p.Pro88Ser)
c.274C>T (p.Pro92Ser)
c.193C>T (p.Pro65Ser)
 COSMIC
11g.2169781G>CCA379112371THc.181C>G (p.Pro61Ala)
c.91-86C>G (n.91-86C>G)
c.103-86C>G (n.103-86C>G)
c.262C>G (p.Pro88Ala)
c.274C>G (p.Pro92Ala)
c.193C>G (p.Pro65Ala)
11g.2169781G>TCA379112372THc.181C>A (p.Pro61Thr)
c.91-86C>A (n.91-86C>A)
c.103-86C>A (n.103-86C>A)
c.262C>A (p.Pro88Thr)
c.274C>A (p.Pro92Thr)
c.193C>A (p.Pro65Thr)
11g.2169782G>ACA472018855THc.180C>T (p.Val60=)
c.91-87C>T (n.91-87C>T)
c.103-87C>T (n.103-87C>T)
c.261C>T (p.Val87=)
c.273C>T (p.Val91=)
c.192C>T (p.Val64=)
11g.2169782G>CCA472018853THc.180C>G (p.Val60=)
c.91-87C>G (n.91-87C>G)
c.103-87C>G (n.103-87C>G)
c.261C>G (p.Val87=)
c.273C>G (p.Val91=)
c.192C>G (p.Val64=)
11g.2169782G>TCA472018854THc.180C>A (p.Val60=)
c.91-87C>A (n.91-87C>A)
c.103-87C>A (n.103-87C>A)
c.261C>A (p.Val87=)
c.273C>A (p.Val91=)
c.192C>A (p.Val64=)
 gnomAD v4
11g.2169783A>CCA379112373THc.179T>G (p.Val60Gly)
c.91-88T>G (n.91-88T>G)
c.103-88T>G (n.103-88T>G)
c.260T>G (p.Val87Gly)
c.272T>G (p.Val91Gly)
c.191T>G (p.Val64Gly)
11g.2169783A>GCA379112374THc.179T>C (p.Val60Ala)
c.91-88T>C (n.91-88T>C)
c.103-88T>C (n.103-88T>C)
c.260T>C (p.Val87Ala)
c.272T>C (p.Val91Ala)
c.191T>C (p.Val64Ala)
11g.2169783A>TCA379112375THc.179T>A (p.Val60Asp)
c.91-88T>A (n.91-88T>A)
c.103-88T>A (n.103-88T>A)
c.260T>A (p.Val87Asp)
c.272T>A (p.Val91Asp)
c.191T>A (p.Val64Asp)
11g.2169784C>ACA379112376THc.178G>T (p.Val60Phe)
c.91-89G>T (n.91-89G>T)
c.103-89G>T (n.103-89G>T)
c.259G>T (p.Val87Phe)
c.271G>T (p.Val91Phe)
c.190G>T (p.Val64Phe)
11g.2169784C>GCA379112377THc.178G>C (p.Val60Leu)
c.91-89G>C (n.91-89G>C)
c.103-89G>C (n.103-89G>C)
c.259G>C (p.Val87Leu)
c.271G>C (p.Val91Leu)
c.190G>C (p.Val64Leu)
11g.2169784C>TCA379112378THc.178G>A (p.Val60Ile)
c.91-89G>A (n.91-89G>A)
c.103-89G>A (n.103-89G>A)
c.259G>A (p.Val87Ile)
c.271G>A (p.Val91Ile)
c.190G>A (p.Val64Ile)
11g.2169785T>ACA472018856THc.177A>T (p.Ala59=)
c.91-90A>T (n.91-90A>T)
c.103-90A>T (n.103-90A>T)
c.258A>T (p.Ala86=)
c.270A>T (p.Ala90=)
c.189A>T (p.Ala63=)
 ClinVar
11g.2169785T>CCA472018857THc.177A>G (p.Ala59=)
c.91-90A>G (n.91-90A>G)
c.103-90A>G (n.103-90A>G)
c.258A>G (p.Ala86=)
c.270A>G (p.Ala90=)
c.189A>G (p.Ala63=)
 dbSNP gnomAD v2 gnomAD v4
11g.2169785T>GCA472018858THc.177A>C (p.Ala59=)
c.91-90A>C (n.91-90A>C)
c.103-90A>C (n.103-90A>C)
c.258A>C (p.Ala86=)
c.270A>C (p.Ala90=)
c.189A>C (p.Ala63=)
11g.2169785T=CA1948009687THc.177A= (p.Ala59=)
c.91-90A= (n.91-90A=)
c.103-90A= (n.103-90A=)
c.258A= (p.Ala86=)
c.270A= (p.Ala90=)
c.189A= (p.Ala63=)
11g.2169786G>ACA379112381THc.176C>T (p.Ala59Val)
c.91-91C>T (n.91-91C>T)
c.103-91C>T (n.103-91C>T)
c.257C>T (p.Ala86Val)
c.269C>T (p.Ala90Val)
c.188C>T (p.Ala63Val)
11g.2169786G>CCA379112379THc.176C>G (p.Ala59Gly)
c.91-91C>G (n.91-91C>G)
c.103-91C>G (n.103-91C>G)
c.257C>G (p.Ala86Gly)
c.269C>G (p.Ala90Gly)
c.188C>G (p.Ala63Gly)
11g.2169786G>TCA379112380THc.176C>A (p.Ala59Glu)
c.91-91C>A (n.91-91C>A)
c.103-91C>A (n.103-91C>A)
c.257C>A (p.Ala86Glu)
c.269C>A (p.Ala90Glu)
c.188C>A (p.Ala63Glu)
11g.2169787C>ACA379112382THc.175G>T (p.Ala59Ser)
c.91-92G>T (n.91-92G>T)
c.103-92G>T (n.103-92G>T)
c.256G>T (p.Ala86Ser)
c.268G>T (p.Ala90Ser)
c.187G>T (p.Ala63Ser)
11g.2169787C>GCA379112383THc.175G>C (p.Ala59Pro)
c.91-92G>C (n.91-92G>C)
c.103-92G>C (n.103-92G>C)
c.256G>C (p.Ala86Pro)
c.268G>C (p.Ala90Pro)
c.187G>C (p.Ala63Pro)
11g.2169787C>TCA379112384THc.175G>A (p.Ala59Thr)
c.91-92G>A (n.91-92G>A)
c.103-92G>A (n.103-92G>A)
c.256G>A (p.Ala86Thr)
c.268G>A (p.Ala90Thr)
c.187G>A (p.Ala63Thr)
11g.2169788A>CCA472018859THc.174T>G (p.Ala58=)
c.91-93T>G (n.91-93T>G)
c.103-93T>G (n.103-93T>G)
c.255T>G (p.Ala85=)
c.267T>G (p.Ala89=)
c.186T>G (p.Ala62=)
11g.2169788A>GCA472018860THc.174T>C (p.Ala58=)
c.91-93T>C (n.91-93T>C)
c.103-93T>C (n.103-93T>C)
c.255T>C (p.Ala85=)
c.267T>C (p.Ala89=)
c.186T>C (p.Ala62=)
11g.2169788A>TCA472018861THc.174T>A (p.Ala58=)
c.91-93T>A (n.91-93T>A)
c.103-93T>A (n.103-93T>A)
c.255T>A (p.Ala85=)
c.267T>A (p.Ala89=)
c.186T>A (p.Ala62=)
 ClinVar dbSNP gnomAD v4
11g.2169789G>ACA5818776THc.173C>T (p.Ala58Val)
c.91-94C>T (n.91-94C>T)
c.103-94C>T (n.103-94C>T)
c.254C>T (p.Ala85Val)
c.266C>T (p.Ala89Val)
c.185C>T (p.Ala62Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169789G>CCA379112385THc.173C>G (p.Ala58Gly)
c.91-94C>G (n.91-94C>G)
c.103-94C>G (n.103-94C>G)
c.254C>G (p.Ala85Gly)
c.266C>G (p.Ala89Gly)
c.185C>G (p.Ala62Gly)
11g.2169789G=CA1948009689THc.173C= (p.Ala58=)
c.91-94C= (n.91-94C=)
c.103-94C= (n.103-94C=)
c.254C= (p.Ala85=)
c.266C= (p.Ala89=)
c.185C= (p.Ala62=)
11g.2169789G>TCA379112386THc.173C>A (p.Ala58Asp)
c.91-94C>A (n.91-94C>A)
c.103-94C>A (n.103-94C>A)
c.254C>A (p.Ala85Asp)
c.266C>A (p.Ala89Asp)
c.185C>A (p.Ala62Asp)
11g.2169790C>ACA216227754THc.172G>T (p.Ala58Ser)
c.91-95G>T (n.91-95G>T)
c.103-95G>T (n.103-95G>T)
c.253G>T (p.Ala85Ser)
c.265G>T (p.Ala89Ser)
c.184G>T (p.Ala62Ser)
 dbSNP
11g.2169790C=CA1948009692THc.172G= (p.Ala58=)
c.91-95G= (n.91-95G=)
c.103-95G= (n.103-95G=)
c.253G= (p.Ala85=)
c.265G= (p.Ala89=)
c.184G= (p.Ala62=)
11g.2169790C>GCA379112387THc.172G>C (p.Ala58Pro)
c.91-95G>C (n.91-95G>C)
c.103-95G>C (n.103-95G>C)
c.253G>C (p.Ala85Pro)
c.265G>C (p.Ala89Pro)
c.184G>C (p.Ala62Pro)
11g.2169790C>TCA379112388THc.172G>A (p.Ala58Thr)
c.91-95G>A (n.91-95G>A)
c.103-95G>A (n.103-95G>A)
c.253G>A (p.Ala85Thr)
c.265G>A (p.Ala89Thr)
c.184G>A (p.Ala62Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.2169791G>ACA5818777THc.171C>T (p.Ala57=)
c.91-96C>T (n.91-96C>T)
c.103-96C>T (n.103-96C>T)
c.252C>T (p.Ala84=)
c.264C>T (p.Ala88=)
c.183C>T (p.Ala61=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169791G>CCA472018863THc.171C>G (p.Ala57=)
c.91-96C>G (n.91-96C>G)
c.103-96C>G (n.103-96C>G)
c.252C>G (p.Ala84=)
c.264C>G (p.Ala88=)
c.183C>G (p.Ala61=)
11g.2169791G=CA1948009695THc.171C= (p.Ala57=)
c.91-96C= (n.91-96C=)
c.103-96C= (n.103-96C=)
c.252C= (p.Ala84=)
c.264C= (p.Ala88=)
c.183C= (p.Ala61=)
11g.2169791G>TCA472018862THc.171C>A (p.Ala57=)
c.91-96C>A (n.91-96C>A)
c.103-96C>A (n.103-96C>A)
c.252C>A (p.Ala84=)
c.264C>A (p.Ala88=)
c.183C>A (p.Ala61=)
 gnomAD v4
11g.2169792G>ACA379112389THc.170C>T (p.Ala57Val)
c.91-97C>T (n.91-97C>T)
c.103-97C>T (n.103-97C>T)
c.251C>T (p.Ala84Val)
c.263C>T (p.Ala88Val)
c.182C>T (p.Ala61Val)
 dbSNP
11g.2169792G>CCA379112390THc.170C>G (p.Ala57Gly)
c.91-97C>G (n.91-97C>G)
c.103-97C>G (n.103-97C>G)
c.251C>G (p.Ala84Gly)
c.263C>G (p.Ala88Gly)
c.182C>G (p.Ala61Gly)
 gnomAD v4
11g.2169792G=CA1948009699THc.170C= (p.Ala57=)
c.91-97C= (n.91-97C=)
c.103-97C= (n.103-97C=)
c.251C= (p.Ala84=)
c.263C= (p.Ala88=)
c.182C= (p.Ala61=)
11g.2169792G>TCA379112391THc.170C>A (p.Ala57Asp)
c.91-97C>A (n.91-97C>A)
c.103-97C>A (n.103-97C>A)
c.251C>A (p.Ala84Asp)
c.263C>A (p.Ala88Asp)
c.182C>A (p.Ala61Asp)
11g.2169792_2169803dupCA597431706THc.159_170dup (p.Ala57_Ala58insAlaAlaAlaAla)
c.91-108_91-97dup (n.91-108_91-97dup)
c.103-108_103-97dup (n.103-108_103-97dup)
c.240_251dup (p.Ala84_Ala85insAlaAlaAlaAla)
c.252_263dup (p.Ala88_Ala89insAlaAlaAlaAla)
c.171_182dup (p.Ala61_Ala62insAlaAlaAlaAla)
 dbSNP gnomAD v2 gnomAD v4
11g.2169793C>ACA379112394THc.169G>T (p.Ala57Ser)
c.91-98G>T (n.91-98G>T)
c.103-98G>T (n.103-98G>T)
c.250G>T (p.Ala84Ser)
c.262G>T (p.Ala88Ser)
c.181G>T (p.Ala61Ser)
11g.2169793C=CA1948009702THc.169G= (p.Ala57=)
c.91-98G= (n.91-98G=)
c.103-98G= (n.103-98G=)
c.250G= (p.Ala84=)
c.262G= (p.Ala88=)
c.181G= (p.Ala61=)
11g.2169793C>GCA379112393THc.169G>C (p.Ala57Pro)
c.91-98G>C (n.91-98G>C)
c.103-98G>C (n.103-98G>C)
c.250G>C (p.Ala84Pro)
c.262G>C (p.Ala88Pro)
c.181G>C (p.Ala61Pro)
11g.2169793C>TCA379112392THc.169G>A (p.Ala57Thr)
c.91-98G>A (n.91-98G>A)
c.103-98G>A (n.103-98G>A)
c.250G>A (p.Ala84Thr)
c.262G>A (p.Ala88Thr)
c.181G>A (p.Ala61Thr)
 dbSNP
11g.2169794C>ACA472018865THc.168G>T (p.Ala56=)
c.91-99G>T (n.91-99G>T)
c.103-99G>T (n.103-99G>T)
c.249G>T (p.Ala83=)
c.261G>T (p.Ala87=)
c.180G>T (p.Ala60=)
11g.2169794C=CA1948009705THc.168G= (p.Ala56=)
c.91-99G= (n.91-99G=)
c.103-99G= (n.103-99G=)
c.249G= (p.Ala83=)
c.261G= (p.Ala87=)
c.180G= (p.Ala60=)
11g.2169794C>GCA472018864THc.168G>C (p.Ala56=)
c.91-99G>C (n.91-99G>C)
c.103-99G>C (n.103-99G>C)
c.249G>C (p.Ala83=)
c.261G>C (p.Ala87=)
c.180G>C (p.Ala60=)
11g.2169794C>TCA5818778THc.168G>A (p.Ala56=)
c.91-99G>A (n.91-99G>A)
c.103-99G>A (n.103-99G>A)
c.249G>A (p.Ala83=)
c.261G>A (p.Ala87=)
c.180G>A (p.Ala60=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2169795G>ACA5818779THc.167C>T (p.Ala56Val)
c.91-100C>T (n.91-100C>T)
c.103-100C>T (n.103-100C>T)
c.248C>T (p.Ala83Val)
c.260C>T (p.Ala87Val)
c.179C>T (p.Ala60Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169795G>CCA379112396THc.167C>G (p.Ala56Gly)
c.91-100C>G (n.91-100C>G)
c.103-100C>G (n.103-100C>G)
c.248C>G (p.Ala83Gly)
c.260C>G (p.Ala87Gly)
c.179C>G (p.Ala60Gly)
 gnomAD v4
11g.2169795G=CA1948009708THc.167C= (p.Ala56=)
c.91-100C= (n.91-100C=)
c.103-100C= (n.103-100C=)
c.248C= (p.Ala83=)
c.260C= (p.Ala87=)
c.179C= (p.Ala60=)
11g.2169795G>TCA379112397THc.167C>A (p.Ala56Glu)
c.91-100C>A (n.91-100C>A)
c.103-100C>A (n.103-100C>A)
c.248C>A (p.Ala83Glu)
c.260C>A (p.Ala87Glu)
c.179C>A (p.Ala60Glu)
11g.2169796C>ACA379112398THc.166G>T (p.Ala56Ser)
c.91-101G>T (n.91-101G>T)
c.103-101G>T (n.103-101G>T)
c.247G>T (p.Ala83Ser)
c.259G>T (p.Ala87Ser)
c.178G>T (p.Ala60Ser)
11g.2169796C>GCA379112399THc.166G>C (p.Ala56Pro)
c.91-101G>C (n.91-101G>C)
c.103-101G>C (n.103-101G>C)
c.247G>C (p.Ala83Pro)
c.259G>C (p.Ala87Pro)
c.178G>C (p.Ala60Pro)
11g.2169796C>TCA379112400THc.166G>A (p.Ala56Thr)
c.91-101G>A (n.91-101G>A)
c.103-101G>A (n.103-101G>A)
c.247G>A (p.Ala83Thr)
c.259G>A (p.Ala87Thr)
c.178G>A (p.Ala60Thr)
11g.2169797T>ACA472018866THc.165A>T (p.Ala55=)
c.91-102A>T (n.91-102A>T)
c.103-102A>T (n.103-102A>T)
c.246A>T (p.Ala82=)
c.258A>T (p.Ala86=)
c.177A>T (p.Ala59=)
11g.2169797T>CCA472018867THc.165A>G (p.Ala55=)
c.91-102A>G (n.91-102A>G)
c.103-102A>G (n.103-102A>G)
c.246A>G (p.Ala82=)
c.258A>G (p.Ala86=)
c.177A>G (p.Ala59=)
 ClinVar dbSNP
11g.2169797T>GCA472018868THc.165A>C (p.Ala55=)
c.91-102A>C (n.91-102A>C)
c.103-102A>C (n.103-102A>C)
c.246A>C (p.Ala82=)
c.258A>C (p.Ala86=)
c.177A>C (p.Ala59=)
11g.2169798G>ACA379112401THc.164C>T (p.Ala55Val)
c.91-103C>T (n.91-103C>T)
c.103-103C>T (n.103-103C>T)
c.245C>T (p.Ala82Val)
c.257C>T (p.Ala86Val)
c.176C>T (p.Ala59Val)
11g.2169798G>CCA379112402THc.164C>G (p.Ala55Gly)
c.91-103C>G (n.91-103C>G)
c.103-103C>G (n.103-103C>G)
c.245C>G (p.Ala82Gly)
c.257C>G (p.Ala86Gly)
c.176C>G (p.Ala59Gly)
11g.2169798G>TCA379112403THc.164C>A (p.Ala55Glu)
c.91-103C>A (n.91-103C>A)
c.103-103C>A (n.103-103C>A)
c.245C>A (p.Ala82Glu)
c.257C>A (p.Ala86Glu)
c.176C>A (p.Ala59Glu)
11g.2169799C>ACA379112404THc.163G>T (p.Ala55Ser)
c.91-104G>T (n.91-104G>T)
c.103-104G>T (n.103-104G>T)
c.244G>T (p.Ala82Ser)
c.256G>T (p.Ala86Ser)
c.175G>T (p.Ala59Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2169799C=CA1948009711THc.163G= (p.Ala55=)
c.91-104G= (n.91-104G=)
c.103-104G= (n.103-104G=)
c.244G= (p.Ala82=)
c.256G= (p.Ala86=)
c.175G= (p.Ala59=)
11g.2169799C>GCA379112405THc.163G>C (p.Ala55Pro)
c.91-104G>C (n.91-104G>C)
c.103-104G>C (n.103-104G>C)
c.244G>C (p.Ala82Pro)
c.256G>C (p.Ala86Pro)
c.175G>C (p.Ala59Pro)
11g.2169799C>TCA379112406THc.163G>A (p.Ala55Thr)
c.91-104G>A (n.91-104G>A)
c.103-104G>A (n.103-104G>A)
c.244G>A (p.Ala82Thr)
c.256G>A (p.Ala86Thr)
c.175G>A (p.Ala59Thr)
 gnomAD v4
11g.2169800T>ACA472018869THc.162A>T (p.Ala54=)
c.91-105A>T (n.91-105A>T)
c.103-105A>T (n.103-105A>T)
c.243A>T (p.Ala81=)
c.255A>T (p.Ala85=)
c.174A>T (p.Ala58=)
11g.2169800T>CCA472018870THc.162A>G (p.Ala54=)
c.91-105A>G (n.91-105A>G)
c.103-105A>G (n.103-105A>G)
c.243A>G (p.Ala81=)
c.255A>G (p.Ala85=)
c.174A>G (p.Ala58=)
11g.2169800T>GCA472018871THc.162A>C (p.Ala54=)
c.91-105A>C (n.91-105A>C)
c.103-105A>C (n.103-105A>C)
c.243A>C (p.Ala81=)
c.255A>C (p.Ala85=)
c.174A>C (p.Ala58=)
11g.2169801G>ACA379112408THc.161C>T (p.Ala54Val)
c.91-106C>T (n.91-106C>T)
c.103-106C>T (n.103-106C>T)
c.242C>T (p.Ala81Val)
c.254C>T (p.Ala85Val)
c.173C>T (p.Ala58Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2169801G>CCA379112409THc.161C>G (p.Ala54Gly)
c.91-106C>G (n.91-106C>G)
c.103-106C>G (n.103-106C>G)
c.242C>G (p.Ala81Gly)
c.254C>G (p.Ala85Gly)
c.173C>G (p.Ala58Gly)
11g.2169801G=CA1948009713THc.161C= (p.Ala54=)
c.91-106C= (n.91-106C=)
c.103-106C= (n.103-106C=)
c.242C= (p.Ala81=)
c.254C= (p.Ala85=)
c.173C= (p.Ala58=)
11g.2169801G>TCA379112407THc.161C>A (p.Ala54Glu)
c.91-106C>A (n.91-106C>A)
c.103-106C>A (n.103-106C>A)
c.242C>A (p.Ala81Glu)
c.254C>A (p.Ala85Glu)
c.173C>A (p.Ala58Glu)
11g.2169802C>ACA379112410THc.160G>T (p.Ala54Ser)
c.91-107G>T (n.91-107G>T)
c.103-107G>T (n.103-107G>T)
c.241G>T (p.Ala81Ser)
c.253G>T (p.Ala85Ser)
c.172G>T (p.Ala58Ser)
11g.2169802C=CA1948009715THc.160G= (p.Ala54=)
c.91-107G= (n.91-107G=)
c.103-107G= (n.103-107G=)
c.241G= (p.Ala81=)
c.253G= (p.Ala85=)
c.172G= (p.Ala58=)
11g.2169802C>GCA379112412THc.160G>C (p.Ala54Pro)
c.91-107G>C (n.91-107G>C)
c.103-107G>C (n.103-107G>C)
c.241G>C (p.Ala81Pro)
c.253G>C (p.Ala85Pro)
c.172G>C (p.Ala58Pro)
11g.2169802C>TCA379112411THc.160G>A (p.Ala54Thr)
c.91-107G>A (n.91-107G>A)
c.103-107G>A (n.103-107G>A)
c.241G>A (p.Ala81Thr)
c.253G>A (p.Ala85Thr)
c.172G>A (p.Ala58Thr)
 dbSNP
11g.2169803C>ACA472018873THc.159G>T (p.Val53=)
c.91-108G>T (n.91-108G>T)
c.103-108G>T (n.103-108G>T)
c.240G>T (p.Val80=)
c.252G>T (p.Val84=)
c.171G>T (p.Val57=)
 dbSNP
11g.2169803C=CA1948009718THc.159G= (p.Val53=)
c.91-108G= (n.91-108G=)
c.103-108G= (n.103-108G=)
c.240G= (p.Val80=)
c.252G= (p.Val84=)
c.171G= (p.Val57=)
11g.2169803C>GCA472018875THc.159G>C (p.Val53=)
c.91-108G>C (n.91-108G>C)
c.103-108G>C (n.103-108G>C)
c.240G>C (p.Val80=)
c.252G>C (p.Val84=)
c.171G>C (p.Val57=)
11g.2169803C>TCA472018874THc.159G>A (p.Val53=)
c.91-108G>A (n.91-108G>A)
c.103-108G>A (n.103-108G>A)
c.240G>A (p.Val80=)
c.252G>A (p.Val84=)
c.171G>A (p.Val57=)
 dbSNP gnomAD v2
11g.2169804A=CA1948009720THc.158T= (p.Val53=)
c.91-109T= (n.91-109T=)
c.103-109T= (n.103-109T=)
c.239T= (p.Val80=)
c.251T= (p.Val84=)
c.170T= (p.Val57=)
11g.2169804A>CCA379112413THc.158T>G (p.Val53Gly)
c.91-109T>G (n.91-109T>G)
c.103-109T>G (n.103-109T>G)
c.239T>G (p.Val80Gly)
c.251T>G (p.Val84Gly)
c.170T>G (p.Val57Gly)
11g.2169804A>GCA379112414THc.158T>C (p.Val53Ala)
c.91-109T>C (n.91-109T>C)
c.103-109T>C (n.103-109T>C)
c.239T>C (p.Val80Ala)
c.251T>C (p.Val84Ala)
c.170T>C (p.Val57Ala)
 dbSNP
11g.2169804A>TCA379112415THc.158T>A (p.Val53Glu)
c.91-109T>A (n.91-109T>A)
c.103-109T>A (n.103-109T>A)
c.239T>A (p.Val80Glu)
c.251T>A (p.Val84Glu)
c.170T>A (p.Val57Glu)
11g.2169805C>ACA379112416THc.157G>T (p.Val53Leu)
c.91-110G>T (n.91-110G>T)
c.103-110G>T (n.103-110G>T)
c.238G>T (p.Val80Leu)
c.250G>T (p.Val84Leu)
c.169G>T (p.Val57Leu)
11g.2169805C>GCA379112417THc.157G>C (p.Val53Leu)
c.91-110G>C (n.91-110G>C)
c.103-110G>C (n.103-110G>C)
c.238G>C (p.Val80Leu)
c.250G>C (p.Val84Leu)
c.169G>C (p.Val57Leu)
11g.2169805C>TCA379112418THc.157G>A (p.Val53Met)
c.91-110G>A (n.91-110G>A)
c.103-110G>A (n.103-110G>A)
c.238G>A (p.Val80Met)
c.250G>A (p.Val84Met)
c.169G>A (p.Val57Met)
11g.2169806C>ACA472018876THc.156G>T (p.Ala52=)
c.91-111G>T (n.91-111G>T)
c.103-111G>T (n.103-111G>T)
c.237G>T (p.Ala79=)
c.249G>T (p.Ala83=)
c.168G>T (p.Ala56=)
 ClinVar dbSNP
11g.2169806C=CA1948009723THc.156G= (p.Ala52=)
c.91-111G= (n.91-111G=)
c.103-111G= (n.103-111G=)
c.237G= (p.Ala79=)
c.249G= (p.Ala83=)
c.168G= (p.Ala56=)
11g.2169806C>GCA5818780THc.156G>C (p.Ala52=)
c.91-111G>C (n.91-111G>C)
c.103-111G>C (n.103-111G>C)
c.237G>C (p.Ala79=)
c.249G>C (p.Ala83=)
c.168G>C (p.Ala56=)
 dbSNP ExAC gnomAD v4
11g.2169806C>TCA472018877THc.156G>A (p.Ala52=)
c.91-111G>A (n.91-111G>A)
c.103-111G>A (n.103-111G>A)
c.237G>A (p.Ala79=)
c.249G>A (p.Ala83=)
c.168G>A (p.Ala56=)
 ClinVar dbSNP gnomAD v4
11g.2169807G>ACA379112419THc.155C>T (p.Ala52Val)
c.91-112C>T (n.91-112C>T)
c.103-112C>T (n.103-112C>T)
c.236C>T (p.Ala79Val)
c.248C>T (p.Ala83Val)
c.167C>T (p.Ala56Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2169807G>CCA379112420THc.155C>G (p.Ala52Gly)
c.91-112C>G (n.91-112C>G)
c.103-112C>G (n.103-112C>G)
c.236C>G (p.Ala79Gly)
c.248C>G (p.Ala83Gly)
c.167C>G (p.Ala56Gly)
11g.2169807G=CA1948009727THc.155C= (p.Ala52=)
c.91-112C= (n.91-112C=)
c.103-112C= (n.103-112C=)
c.236C= (p.Ala79=)
c.248C= (p.Ala83=)
c.167C= (p.Ala56=)
11g.2169807G>TCA379112421THc.155C>A (p.Ala52Glu)
c.91-112C>A (n.91-112C>A)
c.103-112C>A (n.103-112C>A)
c.236C>A (p.Ala79Glu)
c.248C>A (p.Ala83Glu)
c.167C>A (p.Ala56Glu)
 gnomAD v4
11g.2169808C>ACA379112422THc.154G>T (p.Ala52Ser)
c.91-113G>T (n.91-113G>T)
c.103-113G>T (n.103-113G>T)
c.235G>T (p.Ala79Ser)
c.247G>T (p.Ala83Ser)
c.166G>T (p.Ala56Ser)
11g.2169808C>GCA379112423THc.154G>C (p.Ala52Pro)
c.91-113G>C (n.91-113G>C)
c.103-113G>C (n.103-113G>C)
c.235G>C (p.Ala79Pro)
c.247G>C (p.Ala83Pro)
c.166G>C (p.Ala56Pro)
11g.2169808C>TCA379112424THc.154G>A (p.Ala52Thr)
c.91-113G>A (n.91-113G>A)
c.103-113G>A (n.103-113G>A)
c.235G>A (p.Ala79Thr)
c.247G>A (p.Ala83Thr)
c.166G>A (p.Ala56Thr)
 COSMIC
11g.2169809C>ACA472018878THc.153G>T (p.Ala51=)
c.91-114G>T (n.91-114G>T)
c.103-114G>T (n.103-114G>T)
c.234G>T (p.Ala78=)
c.246G>T (p.Ala82=)
c.165G>T (p.Ala55=)
11g.2169809C=CA1948009729THc.153G= (p.Ala51=)
c.91-114G= (n.91-114G=)
c.103-114G= (n.103-114G=)
c.234G= (p.Ala78=)
c.246G= (p.Ala82=)
c.165G= (p.Ala55=)
11g.2169809C>GCA472018879THc.153G>C (p.Ala51=)
c.91-114G>C (n.91-114G>C)
c.103-114G>C (n.103-114G>C)
c.234G>C (p.Ala78=)
c.246G>C (p.Ala82=)
c.165G>C (p.Ala55=)
11g.2169809C>TCA5818781THc.153G>A (p.Ala51=)
c.91-114G>A (n.91-114G>A)
c.103-114G>A (n.103-114G>A)
c.234G>A (p.Ala78=)
c.246G>A (p.Ala82=)
c.165G>A (p.Ala55=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169810G>ACA5818782THc.152C>T (p.Ala51Val)
c.91-115C>T (n.91-115C>T)
c.103-115C>T (n.103-115C>T)
c.233C>T (p.Ala78Val)
c.245C>T (p.Ala82Val)
c.164C>T (p.Ala55Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169810G>CCA379112425THc.152C>G (p.Ala51Gly)
c.91-115C>G (n.91-115C>G)
c.103-115C>G (n.103-115C>G)
c.233C>G (p.Ala78Gly)
c.245C>G (p.Ala82Gly)
c.164C>G (p.Ala55Gly)
11g.2169810G=CA1948009732THc.152C= (p.Ala51=)
c.91-115C= (n.91-115C=)
c.103-115C= (n.103-115C=)
c.233C= (p.Ala78=)
c.245C= (p.Ala82=)
c.164C= (p.Ala55=)
11g.2169810G>TCA379112426THc.152C>A (p.Ala51Glu)
c.91-115C>A (n.91-115C>A)
c.103-115C>A (n.103-115C>A)
c.233C>A (p.Ala78Glu)
c.245C>A (p.Ala82Glu)
c.164C>A (p.Ala55Glu)
11g.2169811C>ACA379112427THc.151G>T (p.Ala51Ser)
c.91-116G>T (n.91-116G>T)
c.103-116G>T (n.103-116G>T)
c.232G>T (p.Ala78Ser)
c.244G>T (p.Ala82Ser)
c.163G>T (p.Ala55Ser)
11g.2169811C=CA1948009734THc.151G= (p.Ala51=)
c.91-116G= (n.91-116G=)
c.103-116G= (n.103-116G=)
c.232G= (p.Ala78=)
c.244G= (p.Ala82=)
c.163G= (p.Ala55=)
11g.2169811C>GCA379112428THc.151G>C (p.Ala51Pro)
c.91-116G>C (n.91-116G>C)
c.103-116G>C (n.103-116G>C)
c.232G>C (p.Ala78Pro)
c.244G>C (p.Ala82Pro)
c.163G>C (p.Ala55Pro)
11g.2169811C>TCA379112429THc.151G>A (p.Ala51Thr)
c.91-116G>A (n.91-116G>A)
c.103-116G>A (n.103-116G>A)
c.232G>A (p.Ala78Thr)
c.244G>A (p.Ala82Thr)
c.163G>A (p.Ala55Thr)
 ClinVar dbSNP gnomAD v2
11g.2169812C>ACA379112430THc.150G>T (p.Glu50Asp)
c.91-117G>T (n.91-117G>T)
c.103-117G>T (n.103-117G>T)
c.231G>T (p.Glu77Asp)
c.243G>T (p.Glu81Asp)
c.162G>T (p.Glu54Asp)
11g.2169812C=CA1948009737THc.150G= (p.Glu50=)
c.91-117G= (n.91-117G=)
c.103-117G= (n.103-117G=)
c.231G= (p.Glu77=)
c.243G= (p.Glu81=)
c.162G= (p.Glu54=)
11g.2169812C>GCA379112431THc.150G>C (p.Glu50Asp)
c.91-117G>C (n.91-117G>C)
c.103-117G>C (n.103-117G>C)
c.231G>C (p.Glu77Asp)
c.243G>C (p.Glu81Asp)
c.162G>C (p.Glu54Asp)
11g.2169812C>TCA5818783THc.150G>A (p.Glu50=)
c.91-117G>A (n.91-117G>A)
c.103-117G>A (n.103-117G>A)
c.231G>A (p.Glu77=)
c.243G>A (p.Glu81=)
c.162G>A (p.Glu54=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169813T>ACA379112432THc.149A>T (p.Glu50Val)
c.91-118A>T (n.91-118A>T)
c.103-118A>T (n.103-118A>T)
c.230A>T (p.Glu77Val)
c.242A>T (p.Glu81Val)
c.161A>T (p.Glu54Val)
11g.2169813T>CCA379112433THc.149A>G (p.Glu50Gly)
c.91-118A>G (n.91-118A>G)
c.103-118A>G (n.103-118A>G)
c.230A>G (p.Glu77Gly)
c.242A>G (p.Glu81Gly)
c.161A>G (p.Glu54Gly)
11g.2169813T>GCA379112434THc.149A>C (p.Glu50Ala)
c.91-118A>C (n.91-118A>C)
c.103-118A>C (n.103-118A>C)
c.230A>C (p.Glu77Ala)
c.242A>C (p.Glu81Ala)
c.161A>C (p.Glu54Ala)
11g.2169814C>ACA379112437THc.148G>T (p.Glu50Ter)
c.91-119G>T (n.91-119G>T)
c.103-119G>T (n.103-119G>T)
c.229G>T (p.Glu77Ter)
c.241G>T (p.Glu81Ter)
c.160G>T (p.Glu54Ter)
11g.2169814C>GCA379112436THc.148G>C (p.Glu50Gln)
c.91-119G>C (n.91-119G>C)
c.103-119G>C (n.103-119G>C)
c.229G>C (p.Glu77Gln)
c.241G>C (p.Glu81Gln)
c.160G>C (p.Glu54Gln)
11g.2169814C>TCA379112435THc.148G>A (p.Glu50Lys)
c.91-119G>A (n.91-119G>A)
c.103-119G>A (n.103-119G>A)
c.229G>A (p.Glu77Lys)
c.241G>A (p.Glu81Lys)
c.160G>A (p.Glu54Lys)
 gnomAD v4
11g.2169815C>ACA472018880THc.147G>T (p.Arg49=)
c.91-120G>T (n.91-120G>T)
c.103-120G>T (n.103-120G>T)
c.228G>T (p.Arg76=)
c.240G>T (p.Arg80=)
c.159G>T (p.Arg53=)
11g.2169815C>GCA472018882THc.147G>C (p.Arg49=)
c.91-120G>C (n.91-120G>C)
c.103-120G>C (n.103-120G>C)
c.228G>C (p.Arg76=)
c.240G>C (p.Arg80=)
c.159G>C (p.Arg53=)
 gnomAD v4
11g.2169815C>TCA472018881THc.147G>A (p.Arg49=)
c.91-120G>A (n.91-120G>A)
c.103-120G>A (n.103-120G>A)
c.228G>A (p.Arg76=)
c.240G>A (p.Arg80=)
c.159G>A (p.Arg53=)
11g.2169816C>ACA379112438THc.146G>T (p.Arg49Leu)
c.91-121G>T (n.91-121G>T)
c.103-121G>T (n.103-121G>T)
c.227G>T (p.Arg76Leu)
c.239G>T (p.Arg80Leu)
c.158G>T (p.Arg53Leu)
 gnomAD v4
11g.2169816C=CA1948009738THc.146G= (p.Arg49=)
c.91-121G= (n.91-121G=)
c.103-121G= (n.103-121G=)
c.227G= (p.Arg76=)
c.239G= (p.Arg80=)
c.158G= (p.Arg53=)
11g.2169816C>GCA379112439THc.146G>C (p.Arg49Pro)
c.91-121G>C (n.91-121G>C)
c.103-121G>C (n.103-121G>C)
c.227G>C (p.Arg76Pro)
c.239G>C (p.Arg80Pro)
c.158G>C (p.Arg53Pro)
11g.2169816C>TCA5818784THc.146G>A (p.Arg49Gln)
c.91-121G>A (n.91-121G>A)
c.103-121G>A (n.103-121G>A)
c.227G>A (p.Arg76Gln)
c.239G>A (p.Arg80Gln)
c.158G>A (p.Arg53Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169817G>ACA379112440THc.145C>T (p.Arg49Trp)
c.91-122C>T (n.91-122C>T)
c.103-122C>T (n.103-122C>T)
c.226C>T (p.Arg76Trp)
c.238C>T (p.Arg80Trp)
c.157C>T (p.Arg53Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2169817G>CCA379112441THc.145C>G (p.Arg49Gly)
c.91-122C>G (n.91-122C>G)
c.103-122C>G (n.103-122C>G)
c.226C>G (p.Arg76Gly)
c.238C>G (p.Arg80Gly)
c.157C>G (p.Arg53Gly)
11g.2169817G=CA1948009741THc.145C= (p.Arg49=)
c.91-122C= (n.91-122C=)
c.103-122C= (n.103-122C=)
c.226C= (p.Arg76=)
c.238C= (p.Arg80=)
c.157C= (p.Arg53=)
11g.2169817G>TCA472018883THc.145C>A (p.Arg49=)
c.91-122C>A (n.91-122C>A)
c.103-122C>A (n.103-122C>A)
c.226C>A (p.Arg76=)
c.238C>A (p.Arg80=)
c.157C>A (p.Arg53=)
 gnomAD v4
11g.2169818C>ACA379112442THc.144G>T (p.Glu48Asp)
c.91-123G>T (n.91-123G>T)
c.103-123G>T (n.103-123G>T)
c.225G>T (p.Glu75Asp)
c.237G>T (p.Glu79Asp)
c.156G>T (p.Glu52Asp)
 gnomAD v4
11g.2169818C=CA1948009744THc.144G= (p.Glu48=)
c.91-123G= (n.91-123G=)
c.103-123G= (n.103-123G=)
c.225G= (p.Glu75=)
c.237G= (p.Glu79=)
c.156G= (p.Glu52=)
11g.2169818C>GCA379112443THc.144G>C (p.Glu48Asp)
c.91-123G>C (n.91-123G>C)
c.103-123G>C (n.103-123G>C)
c.225G>C (p.Glu75Asp)
c.237G>C (p.Glu79Asp)
c.156G>C (p.Glu52Asp)
11g.2169818C>TCA472018884THc.144G>A (p.Glu48=)
c.91-123G>A (n.91-123G>A)
c.103-123G>A (n.103-123G>A)
c.225G>A (p.Glu75=)
c.237G>A (p.Glu79=)
c.156G>A (p.Glu52=)
 dbSNP
11g.2169819T>ACA379112444THc.143A>T (p.Glu48Val)
c.91-124A>T (n.91-124A>T)
c.103-124A>T (n.103-124A>T)
c.224A>T (p.Glu75Val)
c.236A>T (p.Glu79Val)
c.155A>T (p.Glu52Val)
11g.2169819T>CCA379112445THc.143A>G (p.Glu48Gly)
c.91-124A>G (n.91-124A>G)
c.103-124A>G (n.103-124A>G)
c.224A>G (p.Glu75Gly)
c.236A>G (p.Glu79Gly)
c.155A>G (p.Glu52Gly)
11g.2169819T>GCA379112446THc.143A>C (p.Glu48Ala)
c.91-124A>C (n.91-124A>C)
c.103-124A>C (n.103-124A>C)
c.224A>C (p.Glu75Ala)
c.236A>C (p.Glu79Ala)
c.155A>C (p.Glu52Ala)
11g.2169820C>ACA379112447THc.142G>T (p.Glu48Ter)
c.91-125G>T (n.91-125G>T)
c.103-125G>T (n.103-125G>T)
c.223G>T (p.Glu75Ter)
c.235G>T (p.Glu79Ter)
c.154G>T (p.Glu52Ter)
 COSMIC
11g.2169820C>GCA379112448THc.142G>C (p.Glu48Gln)
c.91-125G>C (n.91-125G>C)
c.103-125G>C (n.103-125G>C)
c.223G>C (p.Glu75Gln)
c.235G>C (p.Glu79Gln)
c.154G>C (p.Glu52Gln)
11g.2169820C>TCA379112449THc.142G>A (p.Glu48Lys)
c.91-125G>A (n.91-125G>A)
c.103-125G>A (n.103-125G>A)
c.223G>A (p.Glu75Lys)
c.235G>A (p.Glu79Lys)
c.154G>A (p.Glu52Lys)
 COSMIC
11g.2169821C>ACA379112451THc.141G>T (p.Lys47Asn)
c.91-126G>T (n.91-126G>T)
c.103-126G>T (n.103-126G>T)
c.222G>T (p.Lys74Asn)
c.234G>T (p.Lys78Asn)
c.153G>T (p.Lys51Asn)
 COSMIC
11g.2169821C>GCA379112450THc.141G>C (p.Lys47Asn)
c.91-126G>C (n.91-126G>C)
c.103-126G>C (n.103-126G>C)
c.222G>C (p.Lys74Asn)
c.234G>C (p.Lys78Asn)
c.153G>C (p.Lys51Asn)
11g.2169821C>TCA472018885THc.141G>A (p.Lys47=)
c.91-126G>A (n.91-126G>A)
c.103-126G>A (n.103-126G>A)
c.222G>A (p.Lys74=)
c.234G>A (p.Lys78=)
c.153G>A (p.Lys51=)
 gnomAD v4
11g.2169822T>ACA379112452THc.140A>T (p.Lys47Met)
c.91-127A>T (n.91-127A>T)
c.103-127A>T (n.103-127A>T)
c.221A>T (p.Lys74Met)
c.233A>T (p.Lys78Met)
c.152A>T (p.Lys51Met)
 gnomAD v4
11g.2169822T>CCA379112453THc.140A>G (p.Lys47Arg)
c.91-127A>G (n.91-127A>G)
c.103-127A>G (n.103-127A>G)
c.221A>G (p.Lys74Arg)
c.233A>G (p.Lys78Arg)
c.152A>G (p.Lys51Arg)
 gnomAD v4
11g.2169822T>GCA379112454THc.140A>C (p.Lys47Thr)
c.91-127A>C (n.91-127A>C)
c.103-127A>C (n.103-127A>C)
c.221A>C (p.Lys74Thr)
c.233A>C (p.Lys78Thr)
c.152A>C (p.Lys51Thr)
11g.2169823T>ACA379112455THc.139A>T (p.Lys47Ter)
c.91-128A>T (n.91-128A>T)
c.103-128A>T (n.103-128A>T)
c.220A>T (p.Lys74Ter)
c.232A>T (p.Lys78Ter)
c.151A>T (p.Lys51Ter)
11g.2169823T>CCA379112456THc.139A>G (p.Lys47Glu)
c.91-128A>G (n.91-128A>G)
c.103-128A>G (n.103-128A>G)
c.220A>G (p.Lys74Glu)
c.232A>G (p.Lys78Glu)
c.151A>G (p.Lys51Glu)
 gnomAD v4
11g.2169823T>GCA379112457THc.139A>C (p.Lys47Gln)
c.91-128A>C (n.91-128A>C)
c.103-128A>C (n.103-128A>C)
c.220A>C (p.Lys74Gln)
c.232A>C (p.Lys78Gln)
c.151A>C (p.Lys51Gln)
11g.2169824G>ACA472018886THc.138C>T (p.Arg46=)
c.91-129C>T (n.91-129C>T)
c.103-129C>T (n.103-129C>T)
c.219C>T (p.Arg73=)
c.231C>T (p.Arg77=)
c.150C>T (p.Arg50=)
 gnomAD v4
11g.2169824G>CCA472018887THc.138C>G (p.Arg46=)
c.91-129C>G (n.91-129C>G)
c.103-129C>G (n.103-129C>G)
c.219C>G (p.Arg73=)
c.231C>G (p.Arg77=)
c.150C>G (p.Arg50=)
11g.2169824G>TCA472018888THc.138C>A (p.Arg46=)
c.91-129C>A (n.91-129C>A)
c.103-129C>A (n.103-129C>A)
c.219C>A (p.Arg73=)
c.231C>A (p.Arg77=)
c.150C>A (p.Arg50=)
 ClinVar gnomAD v4
11g.2169824dupCA2580082708THc.138dup (p.Lys47GlnfsTer28)
c.91-129dup (n.91-129dup)
c.103-129dup (n.103-129dup)
c.219dup (p.Lys74GlnfsTer28)
c.231dup (p.Lys78GlnfsTer28)
c.150dup (p.Lys51GlnfsTer28)
 ClinVar
11g.2169825C>ACA379112458THc.137G>T (p.Arg46Leu)
c.91-130G>T (n.91-130G>T)
c.103-130G>T (n.103-130G>T)
c.218G>T (p.Arg73Leu)
c.230G>T (p.Arg77Leu)
c.149G>T (p.Arg50Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.2169825C=CA1948009746THc.137G= (p.Arg46=)
c.91-130G= (n.91-130G=)
c.103-130G= (n.103-130G=)
c.218G= (p.Arg73=)
c.230G= (p.Arg77=)
c.149G= (p.Arg50=)
11g.2169825C>GCA379112459THc.137G>C (p.Arg46Pro)
c.91-130G>C (n.91-130G>C)
c.103-130G>C (n.103-130G>C)
c.218G>C (p.Arg73Pro)
c.230G>C (p.Arg77Pro)
c.149G>C (p.Arg50Pro)
11g.2169825C>TCA5818785THc.137G>A (p.Arg46His)
c.91-130G>A (n.91-130G>A)
c.103-130G>A (n.103-130G>A)
c.218G>A (p.Arg73His)
c.230G>A (p.Arg77His)
c.149G>A (p.Arg50His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169826G>ACA379112460THc.136C>T (p.Arg46Cys)
c.91-131C>T (n.91-131C>T)
c.103-131C>T (n.103-131C>T)
c.217C>T (p.Arg73Cys)
c.229C>T (p.Arg77Cys)
c.148C>T (p.Arg50Cys)
 dbSNP gnomAD v2 gnomAD v4
11g.2169826G>CCA379112461THc.136C>G (p.Arg46Gly)
c.91-131C>G (n.91-131C>G)
c.103-131C>G (n.103-131C>G)
c.217C>G (p.Arg73Gly)
c.229C>G (p.Arg77Gly)
c.148C>G (p.Arg50Gly)
11g.2169826G=CA1948009748THc.136C= (p.Arg46=)
c.91-131C= (n.91-131C=)
c.103-131C= (n.103-131C=)
c.217C= (p.Arg73=)
c.229C= (p.Arg77=)
c.148C= (p.Arg50=)
11g.2169826G>TCA379112462THc.136C>A (p.Arg46Ser)
c.91-131C>A (n.91-131C>A)
c.103-131C>A (n.103-131C>A)
c.217C>A (p.Arg73Ser)
c.229C>A (p.Arg77Ser)
c.148C>A (p.Arg50Ser)
 gnomAD v4
11g.2169827G>ACA472018889THc.135C>T (p.Ala45=)
c.91-132C>T (n.91-132C>T)
c.103-132C>T (n.103-132C>T)
c.216C>T (p.Ala72=)
c.228C>T (p.Ala76=)
c.147C>T (p.Ala49=)
 ClinVar dbSNP gnomAD v4
11g.2169827G>CCA472018890THc.135C>G (p.Ala45=)
c.91-132C>G (n.91-132C>G)
c.103-132C>G (n.103-132C>G)
c.216C>G (p.Ala72=)
c.228C>G (p.Ala76=)
c.147C>G (p.Ala49=)
11g.2169827G=CA1948009750THc.135C= (p.Ala45=)
c.91-132C= (n.91-132C=)
c.103-132C= (n.103-132C=)
c.216C= (p.Ala72=)
c.228C= (p.Ala76=)
c.147C= (p.Ala49=)
11g.2169827G>TCA472018891THc.135C>A (p.Ala45=)
c.91-132C>A (n.91-132C>A)
c.103-132C>A (n.103-132C>A)
c.216C>A (p.Ala72=)
c.228C>A (p.Ala76=)
c.147C>A (p.Ala49=)
 dbSNP gnomAD v2
11g.2169828G>ACA379112463THc.134C>T (p.Ala45Val)
c.91-133C>T (n.91-133C>T)
c.103-133C>T (n.103-133C>T)
c.215C>T (p.Ala72Val)
c.227C>T (p.Ala76Val)
c.146C>T (p.Ala49Val)
11g.2169828G>CCA379112465THc.134C>G (p.Ala45Gly)
c.91-133C>G (n.91-133C>G)
c.103-133C>G (n.103-133C>G)
c.215C>G (p.Ala72Gly)
c.227C>G (p.Ala76Gly)
c.146C>G (p.Ala49Gly)
11g.2169828G>TCA379112464THc.134C>A (p.Ala45Asp)
c.91-133C>A (n.91-133C>A)
c.103-133C>A (n.103-133C>A)
c.215C>A (p.Ala72Asp)
c.227C>A (p.Ala76Asp)
c.146C>A (p.Ala49Asp)
11g.2169829C>ACA379112466THc.133G>T (p.Ala45Ser)
c.91-134G>T (n.91-134G>T)
c.103-134G>T (n.103-134G>T)
c.214G>T (p.Ala72Ser)
c.226G>T (p.Ala76Ser)
c.145G>T (p.Ala49Ser)
11g.2169829C=CA1948009753THc.133G= (p.Ala45=)
c.91-134G= (n.91-134G=)
c.103-134G= (n.103-134G=)
c.214G= (p.Ala72=)
c.226G= (p.Ala76=)
c.145G= (p.Ala49=)
11g.2169829C>GCA379112468THc.133G>C (p.Ala45Pro)
c.91-134G>C (n.91-134G>C)
c.103-134G>C (n.103-134G>C)
c.214G>C (p.Ala72Pro)
c.226G>C (p.Ala76Pro)
c.145G>C (p.Ala49Pro)
11g.2169829C>TCA379112467THc.133G>A (p.Ala45Thr)
c.91-134G>A (n.91-134G>A)
c.103-134G>A (n.103-134G>A)
c.214G>A (p.Ala72Thr)
c.226G>A (p.Ala76Thr)
c.145G>A (p.Ala49Thr)
 ClinVar dbSNP gnomAD v4
11g.2169830G>ACA5818786THc.132C>T (p.Asp44=)
c.91-135C>T (n.91-135C>T)
c.103-135C>T (n.103-135C>T)
c.213C>T (p.Asp71=)
c.225C>T (p.Asp75=)
c.144C>T (p.Asp48=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169830G>CCA379112470THc.132C>G (p.Asp44Glu)
c.91-135C>G (n.91-135C>G)
c.103-135C>G (n.103-135C>G)
c.213C>G (p.Asp71Glu)
c.225C>G (p.Asp75Glu)
c.144C>G (p.Asp48Glu)
11g.2169830G=CA1948009756THc.132C= (p.Asp44=)
c.91-135C= (n.91-135C=)
c.103-135C= (n.103-135C=)
c.213C= (p.Asp71=)
c.225C= (p.Asp75=)
c.144C= (p.Asp48=)
11g.2169830G>TCA379112469THc.132C>A (p.Asp44Glu)
c.91-135C>A (n.91-135C>A)
c.103-135C>A (n.103-135C>A)
c.213C>A (p.Asp71Glu)
c.225C>A (p.Asp75Glu)
c.144C>A (p.Asp48Glu)
11g.2169831T>ACA379112471THc.131A>T (p.Asp44Val)
c.91-136A>T (n.91-136A>T)
c.103-136A>T (n.103-136A>T)
c.212A>T (p.Asp71Val)
c.224A>T (p.Asp75Val)
c.143A>T (p.Asp48Val)
11g.2169831T>CCA379112473THc.131A>G (p.Asp44Gly)
c.91-136A>G (n.91-136A>G)
c.103-136A>G (n.103-136A>G)
c.212A>G (p.Asp71Gly)
c.224A>G (p.Asp75Gly)
c.143A>G (p.Asp48Gly)
11g.2169831T>GCA379112472THc.131A>C (p.Asp44Ala)
c.91-136A>C (n.91-136A>C)
c.103-136A>C (n.103-136A>C)
c.212A>C (p.Asp71Ala)
c.224A>C (p.Asp75Ala)
c.143A>C (p.Asp48Ala)
11g.2169832C>ACA379112474THc.130G>T (p.Asp44Tyr)
c.91-137G>T (n.91-137G>T)
c.103-137G>T (n.103-137G>T)
c.211G>T (p.Asp71Tyr)
c.223G>T (p.Asp75Tyr)
c.142G>T (p.Asp48Tyr)
11g.2169832C>GCA379112475THc.130G>C (p.Asp44His)
c.91-137G>C (n.91-137G>C)
c.103-137G>C (n.103-137G>C)
c.211G>C (p.Asp71His)
c.223G>C (p.Asp75His)
c.142G>C (p.Asp48His)
11g.2169832C>TCA379112476THc.130G>A (p.Asp44Asn)
c.91-137G>A (n.91-137G>A)
c.103-137G>A (n.103-137G>A)
c.211G>A (p.Asp71Asn)
c.223G>A (p.Asp75Asn)
c.142G>A (p.Asp48Asn)
11g.2169833C>ACA379112477THc.129G>T (p.Glu43Asp)
c.91-138G>T (n.91-138G>T)
c.103-138G>T (n.103-138G>T)
c.210G>T (p.Glu70Asp)
c.222G>T (p.Glu74Asp)
c.141G>T (p.Glu47Asp)
 gnomAD v4
11g.2169833C>GCA379112478THc.129G>C (p.Glu43Asp)
c.91-138G>C (n.91-138G>C)
c.103-138G>C (n.103-138G>C)
c.210G>C (p.Glu70Asp)
c.222G>C (p.Glu74Asp)
c.141G>C (p.Glu47Asp)
11g.2169833C>TCA472018892THc.129G>A (p.Glu43=)
c.91-138G>A (n.91-138G>A)
c.103-138G>A (n.103-138G>A)
c.210G>A (p.Glu70=)
c.222G>A (p.Glu74=)
c.141G>A (p.Glu47=)
11g.2169834T>ACA379112479THc.128A>T (p.Glu43Val)
c.91-139A>T (n.91-139A>T)
c.103-139A>T (n.103-139A>T)
c.209A>T (p.Glu70Val)
c.221A>T (p.Glu74Val)
c.140A>T (p.Glu47Val)
11g.2169834T>CCA379112480THc.128A>G (p.Glu43Gly)
c.91-139A>G (n.91-139A>G)
c.103-139A>G (n.103-139A>G)
c.209A>G (p.Glu70Gly)
c.221A>G (p.Glu74Gly)
c.140A>G (p.Glu47Gly)
11g.2169834T>GCA379112481THc.128A>C (p.Glu43Ala)
c.91-139A>C (n.91-139A>C)
c.103-139A>C (n.103-139A>C)
c.209A>C (p.Glu70Ala)
c.221A>C (p.Glu74Ala)
c.140A>C (p.Glu47Ala)
11g.2169835C>ACA379112482THc.127G>T (p.Glu43Ter)
c.91-140G>T (n.91-140G>T)
c.103-140G>T (n.103-140G>T)
c.208G>T (p.Glu70Ter)
c.220G>T (p.Glu74Ter)
c.139G>T (p.Glu47Ter)
11g.2169835C=CA1948009759THc.127G= (p.Glu43=)
c.91-140G= (n.91-140G=)
c.103-140G= (n.103-140G=)
c.208G= (p.Glu70=)
c.220G= (p.Glu74=)
c.139G= (p.Glu47=)
11g.2169835C>GCA379112483THc.127G>C (p.Glu43Gln)
c.91-140G>C (n.91-140G>C)
c.103-140G>C (n.103-140G>C)
c.208G>C (p.Glu70Gln)
c.220G>C (p.Glu74Gln)
c.139G>C (p.Glu47Gln)
11g.2169835C>TCA5818787THc.127G>A (p.Glu43Lys)
c.91-140G>A (n.91-140G>A)
c.103-140G>A (n.103-140G>A)
c.208G>A (p.Glu70Lys)
c.220G>A (p.Glu74Lys)
c.139G>A (p.Glu47Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169836G>ACA472018893THc.126C>T (p.Ile42=)
c.91-141C>T (n.91-141C>T)
c.103-141C>T (n.103-141C>T)
c.207C>T (p.Ile69=)
c.219C>T (p.Ile73=)
c.138C>T (p.Ile46=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2169836G>CCA379112484THc.126C>G (p.Ile42Met)
c.91-141C>G (n.91-141C>G)
c.103-141C>G (n.103-141C>G)
c.207C>G (p.Ile69Met)
c.219C>G (p.Ile73Met)
c.138C>G (p.Ile46Met)
11g.2169836G=CA1948009762THc.126C= (p.Ile42=)
c.91-141C= (n.91-141C=)
c.103-141C= (n.103-141C=)
c.207C= (p.Ile69=)
c.219C= (p.Ile73=)
c.138C= (p.Ile46=)
11g.2169836G>TCA5818788THc.126C>A (p.Ile42=)
c.91-141C>A (n.91-141C>A)
c.103-141C>A (n.103-141C>A)
c.207C>A (p.Ile69=)
c.219C>A (p.Ile73=)
c.138C>A (p.Ile46=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169837A>CCA379112485THc.125T>G (p.Ile42Ser)
c.91-142T>G (n.91-142T>G)
c.103-142T>G (n.103-142T>G)
c.206T>G (p.Ile69Ser)
c.218T>G (p.Ile73Ser)
c.137T>G (p.Ile46Ser)
11g.2169837A>GCA379112487THc.125T>C (p.Ile42Thr)
c.91-142T>C (n.91-142T>C)
c.103-142T>C (n.103-142T>C)
c.206T>C (p.Ile69Thr)
c.218T>C (p.Ile73Thr)
c.137T>C (p.Ile46Thr)
11g.2169837A>TCA379112486THc.125T>A (p.Ile42Asn)
c.91-142T>A (n.91-142T>A)
c.103-142T>A (n.103-142T>A)
c.206T>A (p.Ile69Asn)
c.218T>A (p.Ile73Asn)
c.137T>A (p.Ile46Asn)
 gnomAD v4
11g.2169838T>ACA379112488THc.124A>T (p.Ile42Phe)
c.91-143A>T (n.91-143A>T)
c.103-143A>T (n.103-143A>T)
c.205A>T (p.Ile69Phe)
c.217A>T (p.Ile73Phe)
c.136A>T (p.Ile46Phe)
11g.2169838T>CCA379112489THc.124A>G (p.Ile42Val)
c.91-143A>G (n.91-143A>G)
c.103-143A>G (n.103-143A>G)
c.205A>G (p.Ile69Val)
c.217A>G (p.Ile73Val)
c.136A>G (p.Ile46Val)
 gnomAD v4
11g.2169838T>GCA379112490THc.124A>C (p.Ile42Leu)
c.91-143A>C (n.91-143A>C)
c.103-143A>C (n.103-143A>C)
c.205A>C (p.Ile69Leu)
c.217A>C (p.Ile73Leu)
c.136A>C (p.Ile46Leu)
11g.2169839G>ACA472018894THc.123C>T (p.Leu41=)
c.91-144C>T (n.91-144C>T)
c.103-144C>T (n.103-144C>T)
c.204C>T (p.Leu68=)
c.216C>T (p.Leu72=)
c.135C>T (p.Leu45=)
 ClinVar dbSNP gnomAD v4
11g.2169839G>CCA472018896THc.123C>G (p.Leu41=)
c.91-144C>G (n.91-144C>G)
c.103-144C>G (n.103-144C>G)
c.204C>G (p.Leu68=)
c.216C>G (p.Leu72=)
c.135C>G (p.Leu45=)
11g.2169839G>TCA472018895THc.123C>A (p.Leu41=)
c.91-144C>A (n.91-144C>A)
c.103-144C>A (n.103-144C>A)
c.204C>A (p.Leu68=)
c.216C>A (p.Leu72=)
c.135C>A (p.Leu45=)
11g.2169840A>CCA379112491THc.122T>G (p.Leu41Arg)
c.91-145T>G (n.91-145T>G)
c.103-145T>G (n.103-145T>G)
c.203T>G (p.Leu68Arg)
c.215T>G (p.Leu72Arg)
c.134T>G (p.Leu45Arg)
11g.2169840A>GCA379112492THc.122T>C (p.Leu41Pro)
c.91-145T>C (n.91-145T>C)
c.103-145T>C (n.103-145T>C)
c.203T>C (p.Leu68Pro)
c.215T>C (p.Leu72Pro)
c.134T>C (p.Leu45Pro)
11g.2169840A>TCA379112493THc.122T>A (p.Leu41His)
c.91-145T>A (n.91-145T>A)
c.103-145T>A (n.103-145T>A)
c.203T>A (p.Leu68His)
c.215T>A (p.Leu72His)
c.134T>A (p.Leu45His)
11g.2169841G>ACA379112494THc.121C>T (p.Leu41Phe)
c.91-146C>T (n.91-146C>T)
c.103-146C>T (n.103-146C>T)
c.202C>T (p.Leu68Phe)
c.214C>T (p.Leu72Phe)
c.133C>T (p.Leu45Phe)
11g.2169841G>CCA379112495THc.121C>G (p.Leu41Val)
c.91-146C>G (n.91-146C>G)
c.103-146C>G (n.103-146C>G)
c.202C>G (p.Leu68Val)
c.214C>G (p.Leu72Val)
c.133C>G (p.Leu45Val)
11g.2169841G>TCA379112496THc.121C>A (p.Leu41Ile)
c.91-146C>A (n.91-146C>A)
c.103-146C>A (n.103-146C>A)
c.202C>A (p.Leu68Ile)
c.214C>A (p.Leu72Ile)
c.133C>A (p.Leu45Ile)
11g.2169842G>ACA5818789THc.120C>T (p.Ser40=)
c.91-147C>T (n.91-147C>T)
c.103-147C>T (n.103-147C>T)
c.201C>T (p.Ser67=)
c.213C>T (p.Ser71=)
c.132C>T (p.Ser44=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2169842G>CCA379112498THc.120C>G (p.Ser40Arg)
c.91-147C>G (n.91-147C>G)
c.103-147C>G (n.103-147C>G)
c.201C>G (p.Ser67Arg)
c.213C>G (p.Ser71Arg)
c.132C>G (p.Ser44Arg)
11g.2169842G=CA1948009765THc.120C= (p.Ser40=)
c.91-147C= (n.91-147C=)
c.103-147C= (n.103-147C=)
c.201C= (p.Ser67=)
c.213C= (p.Ser71=)
c.132C= (p.Ser44=)
11g.2169842G>TCA379112497THc.120C>A (p.Ser40Arg)
c.91-147C>A (n.91-147C>A)
c.103-147C>A (n.103-147C>A)
c.201C>A (p.Ser67Arg)
c.213C>A (p.Ser71Arg)
c.132C>A (p.Ser44Arg)
 ClinVar dbSNP gnomAD v4
11g.2169842_2169843insAGATCGCCTTCCTCAACCAGTGGGTGGACGAGGGCTGGCGCGACACCGTACGTGACCTGGCTGGCGACGTGCAGGGACCCTACA2790190853THc.119_120insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Leu41ArgfsTer23)
c.91-148_91-147insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.91-148_91-147insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT)
c.103-148_103-147insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.103-148_103-147insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT)
c.200_201insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Leu68ArgfsTer23)
c.212_213insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Leu72ArgfsTer23)
c.131_132insTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Leu45ArgfsTer23)
11g.2169842_2169843insAGATCGCCTTCCTCAACCAGTGGGTGGACGAGGGCTGGCGCGACACCGTACGTGACCTGGCTGGCGACGTGCAGGGACCCTACTCGTGGTGGTCA2790190852THc.119_120insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser40delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu)
c.91-148_91-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.91-148_91-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT)
c.103-148_103-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.103-148_103-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT)
c.200_201insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser67delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu)
c.212_213insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser71delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu)
c.131_132insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAGGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser44delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu)
11g.2169842_2169843insAGATCGCCTTCCTCAACCAGTGGGTGGACGAGGGCTGGCGCGACACCGTACGTGACTTGGCTGGCGACGTGCAGGGACCCTACTCGTGGTGGTCA2790190854THc.119_120insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser40delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu)
c.91-148_91-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.91-148_91-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT)
c.103-148_103-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (n.103-148_103-147insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT)
c.200_201insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser67delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu)
c.212_213insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser71delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu)
c.131_132insACCACCACGAGTAGGGTCCCTGCACGTCGCCAGCCAAGTCACGTACGGTGTCGCGCCAGCCCTCGTCCACCCACTGGTTGAGGAAGGCGATCT (p.Ser44delinsArgProProArgValGlySerLeuHisValAlaSerGlnValThrTyrGlyValAlaProAlaLeuValHisProLeuValGluGluGlyAspLeu)
11g.2169843C>ACA379112499THc.119G>T (p.Ser40Ile)
c.91-148G>T (n.91-148G>T)
c.103-148G>T (n.103-148G>T)
c.200G>T (p.Ser67Ile)
c.212G>T (p.Ser71Ile)
c.131G>T (p.Ser44Ile)
11g.2169843C>GCA379112500THc.119G>C (p.Ser40Thr)
c.91-148G>C (n.91-148G>C)
c.103-148G>C (n.103-148G>C)
c.200G>C (p.Ser67Thr)
c.212G>C (p.Ser71Thr)
c.131G>C (p.Ser44Thr)
11g.2169843C>TCA379112501THc.119G>A (p.Ser40Asn)
c.91-148G>A (n.91-148G>A)
c.103-148G>A (n.103-148G>A)
c.200G>A (p.Ser67Asn)
c.212G>A (p.Ser71Asn)
c.131G>A (p.Ser44Asn)
11g.2169844T>ACA379112502THc.118A>T (p.Ser40Cys)
c.91-149A>T (n.91-149A>T)
c.103-149A>T (n.103-149A>T)
c.199A>T (p.Ser67Cys)
c.211A>T (p.Ser71Cys)
c.130A>T (p.Ser44Cys)
11g.2169844T>CCA379112503THc.118A>G (p.Ser40Gly)
c.91-149A>G (n.91-149A>G)
c.103-149A>G (n.103-149A>G)
c.199A>G (p.Ser67Gly)
c.211A>G (p.Ser71Gly)
c.130A>G (p.Ser44Gly)
11g.2169844T>GCA379112504THc.118A>C (p.Ser40Arg)
c.91-149A>C (n.91-149A>C)
c.103-149A>C (n.103-149A>C)
c.199A>C (p.Ser67Arg)
c.211A>C (p.Ser71Arg)
c.130A>C (p.Ser44Arg)
11g.2169845C>ACA379112505THc.117G>T (p.Gln39His)
c.91-150G>T (n.91-150G>T)
c.103-150G>T (n.103-150G>T)
c.198G>T (p.Gln66His)
c.210G>T (p.Gln70His)
c.129G>T (p.Gln43His)
11g.2169845C>GCA379112506THc.117G>C (p.Gln39His)
c.91-150G>C (n.91-150G>C)
c.103-150G>C (n.103-150G>C)
c.198G>C (p.Gln66His)
c.210G>C (p.Gln70His)
c.129G>C (p.Gln43His)
11g.2169845C>TCA472018897THc.117G>A (p.Gln39=)
c.91-150G>A (n.91-150G>A)
c.103-150G>A (n.103-150G>A)
c.198G>A (p.Gln66=)
c.210G>A (p.Gln70=)
c.129G>A (p.Gln43=)
11g.2169846T>ACA379112507THc.116A>T (p.Gln39Leu)
c.91-151A>T (n.91-151A>T)
c.103-151A>T (n.103-151A>T)
c.197A>T (p.Gln66Leu)
c.209A>T (p.Gln70Leu)
c.128A>T (p.Gln43Leu)
11g.2169846T>CCA379112508THc.116A>G (p.Gln39Arg)
c.91-151A>G (n.91-151A>G)
c.103-151A>G (n.103-151A>G)
c.197A>G (p.Gln66Arg)
c.209A>G (p.Gln70Arg)
c.128A>G (p.Gln43Arg)
11g.2169846T>GCA379112509THc.116A>C (p.Gln39Pro)
c.91-151A>C (n.91-151A>C)
c.103-151A>C (n.103-151A>C)
c.197A>C (p.Gln66Pro)
c.209A>C (p.Gln70Pro)
c.128A>C (p.Gln43Pro)
11g.2169847G>ACA379112511THc.115C>T (p.Gln39Ter)
c.91-152C>T (n.91-152C>T)
c.103-152C>T (n.103-152C>T)
c.196C>T (p.Gln66Ter)
c.208C>T (p.Gln70Ter)
c.127C>T (p.Gln43Ter)
11g.2169847G>CCA10638157THc.115C>G (p.Gln39Glu)
c.91-152C>G (n.91-152C>G)
c.103-152C>G (n.103-152C>G)
c.196C>G (p.Gln66Glu)
c.208C>G (p.Gln70Glu)
c.127C>G (p.Gln43Glu)
 ClinVar dbSNP gnomAD v4
11g.2169847G=CA1948009768THc.115C= (p.Gln39=)
c.91-152C= (n.91-152C=)
c.103-152C= (n.103-152C=)
c.196C= (p.Gln66=)
c.208C= (p.Gln70=)
c.127C= (p.Gln43=)
11g.2169847G>TCA379112510THc.115C>A (p.Gln39Lys)
c.91-152C>A (n.91-152C>A)
c.103-152C>A (n.103-152C>A)
c.196C>A (p.Gln66Lys)
c.208C>A (p.Gln70Lys)
c.127C>A (p.Gln43Lys)
11g.2169848C>ACA379112512THc.114G>T (p.Arg38Ser)
c.91-153G>T (n.91-153G>T)
c.103-153G>T (n.103-153G>T)
c.195G>T (p.Arg65Ser)
c.207G>T (p.Arg69Ser)
c.126G>T (p.Arg42Ser)
11g.2169848C=CA1948009771THc.114G= (p.Arg38=)
c.91-153G= (n.91-153G=)
c.103-153G= (n.103-153G=)
c.195G= (p.Arg65=)
c.207G= (p.Arg69=)
c.126G= (p.Arg42=)
11g.2169848C>GCA379112513THc.114G>C (p.Arg38Ser)
c.91-153G>C (n.91-153G>C)
c.103-153G>C (n.103-153G>C)
c.195G>C (p.Arg65Ser)
c.207G>C (p.Arg69Ser)
c.126G>C (p.Arg42Ser)
11g.2169848C>TCA216227801THc.114G>A (p.Arg38=)
c.91-153G>A (n.91-153G>A)
c.103-153G>A (n.103-153G>A)
c.195G>A (p.Arg65=)
c.207G>A (p.Arg69=)
c.126G>A (p.Arg42=)
 dbSNP
11g.2169849C>ACA379112514THc.113G>T (p.Arg38Met)
c.91-154G>T (n.91-154G>T)
c.103-154G>T (n.103-154G>T)
c.194G>T (p.Arg65Met)
c.206G>T (p.Arg69Met)
c.125G>T (p.Arg42Met)
11g.2169849C>GCA379112515THc.113G>C (p.Arg38Thr)
c.91-154G>C (n.91-154G>C)
c.103-154G>C (n.103-154G>C)
c.194G>C (p.Arg65Thr)
c.206G>C (p.Arg69Thr)
c.125G>C (p.Arg42Thr)
11g.2169849C>TCA379112516THc.113G>A (p.Arg38Lys)
c.91-154G>A (n.91-154G>A)
c.103-154G>A (n.103-154G>A)
c.194G>A (p.Arg65Lys)
c.206G>A (p.Arg69Lys)
c.125G>A (p.Arg42Lys)
11g.2169850T>ACA379112517THc.112A>T (p.Arg38Trp)
c.91-155A>T (n.91-155A>T)
c.103-155A>T (n.103-155A>T)
c.193A>T (p.Arg65Trp)
c.205A>T (p.Arg69Trp)
c.124A>T (p.Arg42Trp)
11g.2169850T>CCA379112518THc.112A>G (p.Arg38Gly)
c.91-155A>G (n.91-155A>G)
c.103-155A>G (n.103-155A>G)
c.193A>G (p.Arg65Gly)
c.205A>G (p.Arg69Gly)
c.124A>G (p.Arg42Gly)
 gnomAD v4
11g.2169850T>GCA472018898THc.112A>C (p.Arg38=)
c.91-155A>C (n.91-155A>C)
c.103-155A>C (n.103-155A>C)
c.193A>C (p.Arg65=)
c.205A>C (p.Arg69=)
c.124A>C (p.Arg42=)
11g.2169851G>ACA472018899THc.111C>T (p.Arg37=)
c.91-156C>T (n.91-156C>T)
c.103-156C>T (n.103-156C>T)
c.192C>T (p.Arg64=)
c.204C>T (p.Arg68=)
c.123C>T (p.Arg41=)
 ClinVar dbSNP gnomAD v4
11g.2169851G>CCA472018901THc.111C>G (p.Arg37=)
c.91-156C>G (n.91-156C>G)
c.103-156C>G (n.103-156C>G)
c.192C>G (p.Arg64=)
c.204C>G (p.Arg68=)
c.123C>G (p.Arg41=)
11g.2169851G>TCA472018900THc.111C>A (p.Arg37=)
c.91-156C>A (n.91-156C>A)
c.103-156C>A (n.103-156C>A)
c.192C>A (p.Arg64=)
c.204C>A (p.Arg68=)
c.123C>A (p.Arg41=)
11g.2169852C>ACA379112519THc.110G>T (p.Arg37Leu)
c.91-157G>T (n.91-157G>T)
c.103-157G>T (n.103-157G>T)
c.191G>T (p.Arg64Leu)
c.203G>T (p.Arg68Leu)
c.122G>T (p.Arg41Leu)
11g.2169852C=CA1948009774THc.110G= (p.Arg37=)
c.91-157G= (n.91-157G=)
c.103-157G= (n.103-157G=)
c.191G= (p.Arg64=)
c.203G= (p.Arg68=)
c.122G= (p.Arg41=)
11g.2169852C>GCA379112520THc.110G>C (p.Arg37Pro)
c.91-157G>C (n.91-157G>C)
c.103-157G>C (n.103-157G>C)
c.191G>C (p.Arg64Pro)
c.203G>C (p.Arg68Pro)
c.122G>C (p.Arg41Pro)
11g.2169852C>TCA5818790THc.110G>A (p.Arg37His)
c.91-157G>A (n.91-157G>A)
c.103-157G>A (n.103-157G>A)
c.191G>A (p.Arg64His)
c.203G>A (p.Arg68His)
c.122G>A (p.Arg41His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169853G>ACA5818791THc.109C>T (p.Arg37Cys)
c.91-158C>T (n.91-158C>T)
c.103-158C>T (n.103-158C>T)
c.190C>T (p.Arg64Cys)
c.202C>T (p.Arg68Cys)
c.121C>T (p.Arg41Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169853G>CCA379112521THc.109C>G (p.Arg37Gly)
c.91-158C>G (n.91-158C>G)
c.103-158C>G (n.103-158C>G)
c.190C>G (p.Arg64Gly)
c.202C>G (p.Arg68Gly)
c.121C>G (p.Arg41Gly)
11g.2169853G=CA1948009777THc.109C= (p.Arg37=)
c.91-158C= (n.91-158C=)
c.103-158C= (n.103-158C=)
c.190C= (p.Arg64=)
c.202C= (p.Arg68=)
c.121C= (p.Arg41=)
11g.2169853G>TCA379112522THc.109C>A (p.Arg37Ser)
c.91-158C>A (n.91-158C>A)
c.103-158C>A (n.103-158C>A)
c.190C>A (p.Arg64Ser)
c.202C>A (p.Arg68Ser)
c.121C>A (p.Arg41Ser)
 dbSNP gnomAD v4
11g.2169854C>ACA472018902THc.108G>T (p.Gly36=)
c.91-159G>T (n.91-159G>T)
c.103-159G>T (n.103-159G>T)
c.189G>T (p.Gly63=)
c.201G>T (p.Gly67=)
c.120G>T (p.Gly40=)
 ClinVar dbSNP
11g.2169854C=CA1948009779THc.108G= (p.Gly36=)
c.91-159G= (n.91-159G=)
c.103-159G= (n.103-159G=)
c.189G= (p.Gly63=)
c.201G= (p.Gly67=)
c.120G= (p.Gly40=)
11g.2169854C>GCA472018903THc.108G>C (p.Gly36=)
c.91-159G>C (n.91-159G>C)
c.103-159G>C (n.103-159G>C)
c.189G>C (p.Gly63=)
c.201G>C (p.Gly67=)
c.120G>C (p.Gly40=)
11g.2169854C>TCA5818792THc.108G>A (p.Gly36=)
c.91-159G>A (n.91-159G>A)
c.103-159G>A (n.103-159G>A)
c.189G>A (p.Gly63=)
c.201G>A (p.Gly67=)
c.120G>A (p.Gly40=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169854_2169880delinsCCCAATGAACCGCGGGGACTGTGGGGACA1948009781THc.91-9_108delinsTCCCCACAGTCCCCGCGGTTCATTGGG
c.91-185_91-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG (n.91-185_91-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG)
c.103-185_103-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG (n.103-185_103-159delinsTCCCCACAGTCCCCGCGGTTCATTGGG)
c.172-9_189delinsTCCCCACAGTCCCCGCGGTTCATTGGG
c.184-9_201delinsTCCCCACAGTCCCCGCGGTTCATTGGG
c.103-9_120delinsTCCCCACAGTCCCCGCGGTTCATTGGG
11g.2169855C>ACA379112524THc.107G>T (p.Gly36Val)
c.91-160G>T (n.91-160G>T)
c.103-160G>T (n.103-160G>T)
c.188G>T (p.Gly63Val)
c.200G>T (p.Gly67Val)
c.119G>T (p.Gly40Val)
 ClinVar
11g.2169855C=CA1948009784THc.107G= (p.Gly36=)
c.91-160G= (n.91-160G=)
c.103-160G= (n.103-160G=)
c.188G= (p.Gly63=)
c.200G= (p.Gly67=)
c.119G= (p.Gly40=)
11g.2169855C>GCA379112523THc.107G>C (p.Gly36Ala)
c.91-160G>C (n.91-160G>C)
c.103-160G>C (n.103-160G>C)
c.188G>C (p.Gly63Ala)
c.200G>C (p.Gly67Ala)
c.119G>C (p.Gly40Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.2169855C>TCA379112525THc.107G>A (p.Gly36Glu)
c.91-160G>A (n.91-160G>A)
c.103-160G>A (n.103-160G>A)
c.188G>A (p.Gly63Glu)
c.200G>A (p.Gly67Glu)
c.119G>A (p.Gly40Glu)
11g.2169856_2169881delCA16041467THc.91-9_107del
c.91-185_91-160del (n.91-185_91-160del)
c.103-185_103-160del (n.103-185_103-160del)
c.172-9_188del
c.184-9_200del
c.103-9_119del
 ClinVar dbSNP
11g.2169856C>ACA379112526THc.106G>T (p.Gly36Trp)
c.91-161G>T (n.91-161G>T)
c.103-161G>T (n.103-161G>T)
c.187G>T (p.Gly63Trp)
c.199G>T (p.Gly67Trp)
c.118G>T (p.Gly40Trp)
11g.2169856C=CA1948009787THc.106G= (p.Gly36=)
c.91-161G= (n.91-161G=)
c.103-161G= (n.103-161G=)
c.187G= (p.Gly63=)
c.199G= (p.Gly67=)
c.118G= (p.Gly40=)
11g.2169856C>GCA379112527THc.106G>C (p.Gly36Arg)
c.91-161G>C (n.91-161G>C)
c.103-161G>C (n.103-161G>C)
c.187G>C (p.Gly63Arg)
c.199G>C (p.Gly67Arg)
c.118G>C (p.Gly40Arg)
11g.2169856C>TCA379112528THc.106G>A (p.Gly36Arg)
c.91-161G>A (n.91-161G>A)
c.103-161G>A (n.103-161G>A)
c.187G>A (p.Gly63Arg)
c.199G>A (p.Gly67Arg)
c.118G>A (p.Gly40Arg)
 dbSNP gnomAD v2
11g.2169857A>CCA379112529THc.105T>G (p.Ile35Met)
c.91-162T>G (n.91-162T>G)
c.103-162T>G (n.103-162T>G)
c.186T>G (p.Ile62Met)
c.198T>G (p.Ile66Met)
c.117T>G (p.Ile39Met)
 gnomAD v4
11g.2169857A>GCA472018904THc.105T>C (p.Ile35=)
c.91-162T>C (n.91-162T>C)
c.103-162T>C (n.103-162T>C)
c.186T>C (p.Ile62=)
c.198T>C (p.Ile66=)
c.117T>C (p.Ile39=)
11g.2169857A>TCA472018905THc.105T>A (p.Ile35=)
c.91-162T>A (n.91-162T>A)
c.103-162T>A (n.103-162T>A)
c.186T>A (p.Ile62=)
c.198T>A (p.Ile66=)
c.117T>A (p.Ile39=)
11g.2169858A=CA1948009790THc.104T= (p.Ile35=)
c.91-163T= (n.91-163T=)
c.103-163T= (n.103-163T=)
c.185T= (p.Ile62=)
c.197T= (p.Ile66=)
c.116T= (p.Ile39=)
11g.2169858A>CCA379112530THc.104T>G (p.Ile35Ser)
c.91-163T>G (n.91-163T>G)
c.103-163T>G (n.103-163T>G)
c.185T>G (p.Ile62Ser)
c.197T>G (p.Ile66Ser)
c.116T>G (p.Ile39Ser)
11g.2169858A>GCA5818793THc.104T>C (p.Ile35Thr)
c.91-163T>C (n.91-163T>C)
c.103-163T>C (n.103-163T>C)
c.185T>C (p.Ile62Thr)
c.197T>C (p.Ile66Thr)
c.116T>C (p.Ile39Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169858A>TCA379112531THc.104T>A (p.Ile35Asn)
c.91-163T>A (n.91-163T>A)
c.103-163T>A (n.103-163T>A)
c.185T>A (p.Ile62Asn)
c.197T>A (p.Ile66Asn)
c.116T>A (p.Ile39Asn)
11g.2169858_2169859delinsATCA1948009789THc.103_104delinsAT (p.Ile35=)
c.91-164_91-163delinsAT (n.91-164_91-163delinsAT)
c.103-164_103-163delinsAT (n.103-164_103-163delinsAT)
c.184_185delinsAT (p.Ile62=)
c.196_197delinsAT (p.Ile66=)
c.115_116delinsAT (p.Ile39=)
11g.2169859delCA1948009793THc.103del (p.Ile35LeufsTer?)
c.91-164del (n.91-164del)
c.103-164del (n.103-164del)
c.184del (p.Ile62LeufsTer?)
c.196del (p.Ile66LeufsTer?)
c.115del (p.Ile39LeufsTer?)
 dbSNP
11g.2169859T>ACA379112532THc.103A>T (p.Ile35Phe)
c.91-164A>T (n.91-164A>T)
c.103-164A>T (n.103-164A>T)
c.184A>T (p.Ile62Phe)
c.196A>T (p.Ile66Phe)
c.115A>T (p.Ile39Phe)
11g.2169859T>CCA379112533THc.103A>G (p.Ile35Val)
c.91-164A>G (n.91-164A>G)
c.103-164A>G (n.103-164A>G)
c.184A>G (p.Ile62Val)
c.196A>G (p.Ile66Val)
c.115A>G (p.Ile39Val)
 dbSNP gnomAD v2 gnomAD v4
11g.2169859T>GCA379112534THc.103A>C (p.Ile35Leu)
c.91-164A>C (n.91-164A>C)
c.103-164A>C (n.103-164A>C)
c.184A>C (p.Ile62Leu)
c.196A>C (p.Ile66Leu)
c.115A>C (p.Ile39Leu)
 dbSNP gnomAD v4
11g.2169859T=CA1948009794THc.103A= (p.Ile35=)
c.91-164A= (n.91-164A=)
c.103-164A= (n.103-164A=)
c.184A= (p.Ile62=)
c.196A= (p.Ile66=)
c.115A= (p.Ile39=)
11g.2169860G>ACA472018906THc.102C>T (p.Phe34=)
c.91-165C>T (n.91-165C>T)
c.103-165C>T (n.103-165C>T)
c.183C>T (p.Phe61=)
c.195C>T (p.Phe65=)
c.114C>T (p.Phe38=)
 gnomAD v4
11g.2169860G>CCA379112535THc.102C>G (p.Phe34Leu)
c.91-165C>G (n.91-165C>G)
c.103-165C>G (n.103-165C>G)
c.183C>G (p.Phe61Leu)
c.195C>G (p.Phe65Leu)
c.114C>G (p.Phe38Leu)
11g.2169860G>TCA379112536THc.102C>A (p.Phe34Leu)
c.91-165C>A (n.91-165C>A)
c.103-165C>A (n.103-165C>A)
c.183C>A (p.Phe61Leu)
c.195C>A (p.Phe65Leu)
c.114C>A (p.Phe38Leu)
11g.2169861A=CA1948009796THc.101T= (p.Phe34=)
c.91-166T= (n.91-166T=)
c.103-166T= (n.103-166T=)
c.182T= (p.Phe61=)
c.194T= (p.Phe65=)
c.113T= (p.Phe38=)
11g.2169861A>CCA379112537THc.101T>G (p.Phe34Cys)
c.91-166T>G (n.91-166T>G)
c.103-166T>G (n.103-166T>G)
c.182T>G (p.Phe61Cys)
c.194T>G (p.Phe65Cys)
c.113T>G (p.Phe38Cys)
11g.2169861A>GCA5818794THc.101T>C (p.Phe34Ser)
c.91-166T>C (n.91-166T>C)
c.103-166T>C (n.103-166T>C)
c.182T>C (p.Phe61Ser)
c.194T>C (p.Phe65Ser)
c.113T>C (p.Phe38Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2169861A>TCA379112538THc.101T>A (p.Phe34Tyr)
c.91-166T>A (n.91-166T>A)
c.103-166T>A (n.103-166T>A)
c.182T>A (p.Phe61Tyr)
c.194T>A (p.Phe65Tyr)
c.113T>A (p.Phe38Tyr)
11g.2169862A>CCA379112539THc.100T>G (p.Phe34Val)
c.91-167T>G (n.91-167T>G)
c.103-167T>G (n.103-167T>G)
c.181T>G (p.Phe61Val)
c.193T>G (p.Phe65Val)
c.112T>G (p.Phe38Val)
11g.2169862A>GCA379112540THc.100T>C (p.Phe34Leu)
c.91-167T>C (n.91-167T>C)
c.103-167T>C (n.103-167T>C)
c.181T>C (p.Phe61Leu)
c.193T>C (p.Phe65Leu)
c.112T>C (p.Phe38Leu)
 gnomAD v4
11g.2169862A>TCA379112541THc.100T>A (p.Phe34Ile)
c.91-167T>A (n.91-167T>A)
c.103-167T>A (n.103-167T>A)
c.181T>A (p.Phe61Ile)
c.193T>A (p.Phe65Ile)
c.112T>A (p.Phe38Ile)
11g.2169863C>ACA472018909THc.99G>T (p.Arg33=)
c.91-168G>T (n.91-168G>T)
c.103-168G>T (n.103-168G>T)
c.180G>T (p.Arg60=)
c.192G>T (p.Arg64=)
c.111G>T (p.Arg37=)
11g.2169863C>GCA472018907THc.99G>C (p.Arg33=)
c.91-168G>C (n.91-168G>C)
c.103-168G>C (n.103-168G>C)
c.180G>C (p.Arg60=)
c.192G>C (p.Arg64=)
c.111G>C (p.Arg37=)
11g.2169863C>TCA472018908THc.99G>A (p.Arg33=)
c.91-168G>A (n.91-168G>A)
c.103-168G>A (n.103-168G>A)
c.180G>A (p.Arg60=)
c.192G>A (p.Arg64=)
c.111G>A (p.Arg37=)
11g.2169864C>ACA379112542THc.98G>T (p.Arg33Leu)
c.91-169G>T (n.91-169G>T)
c.103-169G>T (n.103-169G>T)
c.179G>T (p.Arg60Leu)
c.191G>T (p.Arg64Leu)
c.110G>T (p.Arg37Leu)
11g.2169864C=CA1948009799THc.98G= (p.Arg33=)
c.91-169G= (n.91-169G=)
c.103-169G= (n.103-169G=)
c.179G= (p.Arg60=)
c.191G= (p.Arg64=)
c.110G= (p.Arg37=)
11g.2169864C>GCA379112543THc.98G>C (p.Arg33Pro)
c.91-169G>C (n.91-169G>C)
c.103-169G>C (n.103-169G>C)
c.179G>C (p.Arg60Pro)
c.191G>C (p.Arg64Pro)
c.110G>C (p.Arg37Pro)
11g.2169864C>TCA216227842THc.98G>A (p.Arg33Gln)
c.91-169G>A (n.91-169G>A)
c.103-169G>A (n.103-169G>A)
c.179G>A (p.Arg60Gln)
c.191G>A (p.Arg64Gln)
c.110G>A (p.Arg37Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2169865G>ACA216227846THc.97C>T (p.Arg33Trp)
c.91-170C>T (n.91-170C>T)
c.103-170C>T (n.103-170C>T)
c.178C>T (p.Arg60Trp)
c.190C>T (p.Arg64Trp)
c.109C>T (p.Arg37Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2169865G>CCA379112544THc.97C>G (p.Arg33Gly)
c.91-170C>G (n.91-170C>G)
c.103-170C>G (n.103-170C>G)
c.178C>G (p.Arg60Gly)
c.190C>G (p.Arg64Gly)
c.109C>G (p.Arg37Gly)
11g.2169865G=CA1948009801THc.97C= (p.Arg33=)
c.91-170C= (n.91-170C=)
c.103-170C= (n.103-170C=)
c.178C= (p.Arg60=)
c.190C= (p.Arg64=)
c.109C= (p.Arg37=)
11g.2169865G>TCA472018910THc.97C>A (p.Arg33=)
c.91-170C>A (n.91-170C>A)
c.103-170C>A (n.103-170C>A)
c.178C>A (p.Arg60=)
c.190C>A (p.Arg64=)
c.109C>A (p.Arg37=)
11g.2169866C>ACA472018911THc.96G>T (p.Pro32=)
c.91-171G>T (n.91-171G>T)
c.103-171G>T (n.103-171G>T)
c.177G>T (p.Pro59=)
c.189G>T (p.Pro63=)
c.108G>T (p.Pro36=)
11g.2169866C=CA1948009805THc.96G= (p.Pro32=)
c.91-171G= (n.91-171G=)
c.103-171G= (n.103-171G=)
c.177G= (p.Pro59=)
c.189G= (p.Pro63=)
c.108G= (p.Pro36=)
11g.2169866C>GCA472018912THc.96G>C (p.Pro32=)
c.91-171G>C (n.91-171G>C)
c.103-171G>C (n.103-171G>C)
c.177G>C (p.Pro59=)
c.189G>C (p.Pro63=)
c.108G>C (p.Pro36=)
 ClinVar dbSNP
11g.2169866C>TCA5818795THc.96G>A (p.Pro32=)
c.91-171G>A (n.91-171G>A)
c.103-171G>A (n.103-171G>A)
c.177G>A (p.Pro59=)
c.189G>A (p.Pro63=)
c.108G>A (p.Pro36=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169867G>ACA5818796THc.95C>T (p.Pro32Leu)
c.91-172C>T (n.91-172C>T)
c.103-172C>T (n.103-172C>T)
c.176C>T (p.Pro59Leu)
c.188C>T (p.Pro63Leu)
c.107C>T (p.Pro36Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2169867G>CCA379112546THc.95C>G (p.Pro32Arg)
c.91-172C>G (n.91-172C>G)
c.103-172C>G (n.103-172C>G)
c.176C>G (p.Pro59Arg)
c.188C>G (p.Pro63Arg)
c.107C>G (p.Pro36Arg)
11g.2169867G=CA1948009807THc.95C= (p.Pro32=)
c.91-172C= (n.91-172C=)
c.103-172C= (n.103-172C=)
c.176C= (p.Pro59=)
c.188C= (p.Pro63=)
c.107C= (p.Pro36=)
11g.2169867G>TCA379112545THc.95C>A (p.Pro32Gln)
c.91-172C>A (n.91-172C>A)
c.103-172C>A (n.103-172C>A)
c.176C>A (p.Pro59Gln)
c.188C>A (p.Pro63Gln)
c.107C>A (p.Pro36Gln)
 gnomAD v4
11g.2169870delCA2611980256THc.95del (p.Pro32ArgfsTer?)
c.91-172del (n.91-172del)
c.103-172del (n.103-172del)
c.176del (p.Pro59ArgfsTer?)
c.188del (p.Pro63ArgfsTer?)
c.107del (p.Pro36ArgfsTer?)
 gnomAD v4
11g.2169868G>ACA379112547THc.94C>T (p.Pro32Ser)
c.91-173C>T (n.91-173C>T)
c.103-173C>T (n.103-173C>T)
c.175C>T (p.Pro59Ser)
c.187C>T (p.Pro63Ser)
c.106C>T (p.Pro36Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.2169868G>CCA379112548THc.94C>G (p.Pro32Ala)
c.91-173C>G (n.91-173C>G)
c.103-173C>G (n.103-173C>G)
c.175C>G (p.Pro59Ala)
c.187C>G (p.Pro63Ala)
c.106C>G (p.Pro36Ala)
11g.2169868G=CA1948009809THc.94C= (p.Pro32=)
c.91-173C= (n.91-173C=)
c.103-173C= (n.103-173C=)
c.175C= (p.Pro59=)
c.187C= (p.Pro63=)
c.106C= (p.Pro36=)
11g.2169868G>TCA379112549THc.94C>A (p.Pro32Thr)
c.91-173C>A (n.91-173C>A)
c.103-173C>A (n.103-173C>A)
c.175C>A (p.Pro59Thr)
c.187C>A (p.Pro63Thr)
c.106C>A (p.Pro36Thr)
 COSMIC
11g.2169869G>ACA472018913THc.93C>T (p.Ser31=)
c.91-174C>T (n.91-174C>T)
c.103-174C>T (n.103-174C>T)
c.174C>T (p.Ser58=)
c.186C>T (p.Ser62=)
c.105C>T (p.Ser35=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2169869G>CCA472018914THc.93C>G (p.Ser31=)
c.91-174C>G (n.91-174C>G)
c.103-174C>G (n.103-174C>G)
c.174C>G (p.Ser58=)
c.186C>G (p.Ser62=)
c.105C>G (p.Ser35=)
11g.2169869G=CA1948009811THc.93C= (p.Ser31=)
c.91-174C= (n.91-174C=)
c.103-174C= (n.103-174C=)
c.174C= (p.Ser58=)
c.186C= (p.Ser62=)
c.105C= (p.Ser35=)
11g.2169869G>TCA472018915THc.93C>A (p.Ser31=)
c.91-174C>A (n.91-174C>A)
c.103-174C>A (n.103-174C>A)
c.174C>A (p.Ser58=)
c.186C>A (p.Ser62=)
c.105C>A (p.Ser35=)
11g.2169870G>ACA216227852THc.92C>T (p.Ser31Phe)
c.91-175C>T (n.91-175C>T)
c.103-175C>T (n.103-175C>T)
c.173C>T (p.Ser58Phe)
c.185C>T (p.Ser62Phe)
c.104C>T (p.Ser35Phe)
 dbSNP
11g.2169870G>CCA379112550THc.92C>G (p.Ser31Cys)
c.91-175C>G (n.91-175C>G)
c.103-175C>G (n.103-175C>G)
c.173C>G (p.Ser58Cys)
c.185C>G (p.Ser62Cys)
c.104C>G (p.Ser35Cys)
11g.2169870G=CA1948009813THc.92C= (p.Ser31=)
c.91-175C= (n.91-175C=)
c.103-175C= (n.103-175C=)
c.173C= (p.Ser58=)
c.185C= (p.Ser62=)
c.104C= (p.Ser35=)
11g.2169870G>TCA379112551THc.92C>A (p.Ser31Tyr)
c.91-175C>A (n.91-175C>A)
c.103-175C>A (n.103-175C>A)
c.173C>A (p.Ser58Tyr)
c.185C>A (p.Ser62Tyr)
c.104C>A (p.Ser35Tyr)
11g.2169871A>CCA379112552THc.91T>G (p.Ser31Ala)
c.91-176T>G (n.91-176T>G)
c.103-176T>G (n.103-176T>G)
c.172T>G (p.Ser58Ala)
c.184T>G (p.Ser62Ala)
c.103T>G (p.Ser35Ala)
11g.2169871A>GCA379112553THc.91T>C (p.Ser31Pro)
c.91-176T>C (n.91-176T>C)
c.103-176T>C (n.103-176T>C)
c.172T>C (p.Ser58Pro)
c.184T>C (p.Ser62Pro)
c.103T>C (p.Ser35Pro)
11g.2169871A>TCA379112554THc.91T>A (p.Ser31Thr)
c.91-176T>A (n.91-176T>A)
c.103-176T>A (n.103-176T>A)
c.172T>A (p.Ser58Thr)
c.184T>A (p.Ser62Thr)
c.103T>A (p.Ser35Thr)

Number of alleles fetched