Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36246376C>ACA373419779CLTA,GNEc.364G>T (p.Ala122Ser)
c.94G>T (p.Ala32Ser)
c.271G>T (p.Ala91Ser)
c.486-16822C>A (n.486-16822C>A)
c.256G>T (p.Ala86Ser)
9g.36246376C>GCA373419777CLTA,GNEc.364G>C (p.Ala122Pro)
c.94G>C (p.Ala32Pro)
c.271G>C (p.Ala91Pro)
c.486-16822C>G (n.486-16822C>G)
c.256G>C (p.Ala86Pro)
9g.36246376C>TCA373419778CLTA,GNEc.364G>A (p.Ala122Thr)
c.94G>A (p.Ala32Thr)
c.271G>A (p.Ala91Thr)
c.486-16822C>T (n.486-16822C>T)
c.256G>A (p.Ala86Thr)
9g.36246377C>ACA464620084CLTA,GNEc.363G>T (p.Leu121=)
c.93G>T (p.Leu31=)
c.270G>T (p.Leu90=)
c.486-16821C>A (n.486-16821C>A)
c.255G>T (p.Leu85=)
9g.36246377C>GCA464620083CLTA,GNEc.363G>C (p.Leu121=)
c.93G>C (p.Leu31=)
c.270G>C (p.Leu90=)
c.486-16821C>G (n.486-16821C>G)
c.255G>C (p.Leu85=)
9g.36246377C>TCA464620082CLTA,GNEc.363G>A (p.Leu121=)
c.93G>A (p.Leu31=)
c.270G>A (p.Leu90=)
c.486-16821C>T (n.486-16821C>T)
c.255G>A (p.Leu85=)
9g.36246378A=CA1846321051CLTA,GNEc.362T= (p.Leu121=)
c.92T= (p.Leu31=)
c.269T= (p.Leu90=)
c.486-16820A= (n.486-16820A=)
c.254T= (p.Leu85=)
9g.36246378A>CCA373419780CLTA,GNEc.362T>G (p.Leu121Arg)
c.92T>G (p.Leu31Arg)
c.269T>G (p.Leu90Arg)
c.486-16820A>C (n.486-16820A>C)
c.254T>G (p.Leu85Arg)
9g.36246378A>GCA373419781CLTA,GNEc.362T>C (p.Leu121Pro)
c.92T>C (p.Leu31Pro)
c.269T>C (p.Leu90Pro)
c.486-16820A>G (n.486-16820A>G)
c.254T>C (p.Leu85Pro)
 dbSNP
9g.36246378A>TCA373419782CLTA,GNEc.362T>A (p.Leu121Gln)
c.92T>A (p.Leu31Gln)
c.269T>A (p.Leu90Gln)
c.486-16820A>T (n.486-16820A>T)
c.254T>A (p.Leu85Gln)
9g.36246379G>ACA464620086CLTA,GNEc.361C>T (p.Leu121=)
c.91C>T (p.Leu31=)
c.268C>T (p.Leu90=)
c.486-16819G>A (n.486-16819G>A)
c.253C>T (p.Leu85=)
9g.36246379G>CCA373419783CLTA,GNEc.361C>G (p.Leu121Val)
c.91C>G (p.Leu31Val)
c.268C>G (p.Leu90Val)
c.486-16819G>C (n.486-16819G>C)
c.253C>G (p.Leu85Val)
9g.36246379G>TCA373419784CLTA,GNEc.361C>A (p.Leu121Met)
c.91C>A (p.Leu31Met)
c.268C>A (p.Leu90Met)
c.486-16819G>T (n.486-16819G>T)
c.253C>A (p.Leu85Met)
9g.36246380G>ACA464620087CLTA,GNEc.360C>T (p.Gly120=)
c.90C>T (p.Gly30=)
c.267C>T (p.Gly89=)
c.486-16818G>A (n.486-16818G>A)
c.252C>T (p.Gly84=)
 ClinVar
9g.36246380G>CCA464620088CLTA,GNEc.360C>G (p.Gly120=)
c.90C>G (p.Gly30=)
c.267C>G (p.Gly89=)
c.486-16818G>C (n.486-16818G>C)
c.252C>G (p.Gly84=)
 ClinVar gnomAD v4
9g.36246380G>TCA464620089CLTA,GNEc.360C>A (p.Gly120=)
c.90C>A (p.Gly30=)
c.267C>A (p.Gly89=)
c.486-16818G>T (n.486-16818G>T)
c.252C>A (p.Gly84=)
9g.36246381C>ACA373419785CLTA,GNEc.359G>T (p.Gly120Val)
c.89G>T (p.Gly30Val)
c.266G>T (p.Gly89Val)
c.486-16817C>A (n.486-16817C>A)
c.251G>T (p.Gly84Val)
 gnomAD v4
9g.36246381C>GCA373419787CLTA,GNEc.359G>C (p.Gly120Ala)
c.89G>C (p.Gly30Ala)
c.266G>C (p.Gly89Ala)
c.486-16817C>G (n.486-16817C>G)
c.251G>C (p.Gly84Ala)
9g.36246381C>TCA373419786CLTA,GNEc.359G>A (p.Gly120Asp)
c.89G>A (p.Gly30Asp)
c.266G>A (p.Gly89Asp)
c.486-16817C>T (n.486-16817C>T)
c.251G>A (p.Gly84Asp)
9g.36246382C>ACA373419788CLTA,GNEc.358G>T (p.Gly120Cys)
c.88G>T (p.Gly30Cys)
c.265G>T (p.Gly89Cys)
c.486-16816C>A (n.486-16816C>A)
c.250G>T (p.Gly84Cys)
9g.36246382C=CA1846321055CLTA,GNEc.358G= (p.Gly120=)
c.88G= (p.Gly30=)
c.265G= (p.Gly89=)
c.486-16816C= (n.486-16816C=)
c.250G= (p.Gly84=)
9g.36246382C>GCA373419789CLTA,GNEc.358G>C (p.Gly120Arg)
c.88G>C (p.Gly30Arg)
c.265G>C (p.Gly89Arg)
c.486-16816C>G (n.486-16816C>G)
c.250G>C (p.Gly84Arg)
9g.36246382C>TCA373419790CLTA,GNEc.358G>A (p.Gly120Ser)
c.88G>A (p.Gly30Ser)
c.265G>A (p.Gly89Ser)
c.486-16816C>T (n.486-16816C>T)
c.250G>A (p.Gly84Ser)
 ClinVar dbSNP gnomAD v4
9g.36246383T>ACA464620093CLTA,GNEc.357A>T (p.Val119=)
c.87A>T (p.Val29=)
c.264A>T (p.Val88=)
c.486-16815T>A (n.486-16815T>A)
c.249A>T (p.Val83=)
9g.36246383T>CCA464620094CLTA,GNEc.357A>G (p.Val119=)
c.87A>G (p.Val29=)
c.264A>G (p.Val88=)
c.486-16815T>C (n.486-16815T>C)
c.249A>G (p.Val83=)
9g.36246383T>GCA464620095CLTA,GNEc.357A>C (p.Val119=)
c.87A>C (p.Val29=)
c.264A>C (p.Val88=)
c.486-16815T>G (n.486-16815T>G)
c.249A>C (p.Val83=)
9g.36246384A>CCA373419791CLTA,GNEc.356T>G (p.Val119Gly)
c.86T>G (p.Val29Gly)
c.263T>G (p.Val88Gly)
c.486-16814A>C (n.486-16814A>C)
c.248T>G (p.Val83Gly)
9g.36246384A>GCA373419792CLTA,GNEc.356T>C (p.Val119Ala)
c.86T>C (p.Val29Ala)
c.263T>C (p.Val88Ala)
c.486-16814A>G (n.486-16814A>G)
c.248T>C (p.Val83Ala)
9g.36246384A>TCA373419793CLTA,GNEc.356T>A (p.Val119Glu)
c.86T>A (p.Val29Glu)
c.263T>A (p.Val88Glu)
c.486-16814A>T (n.486-16814A>T)
c.248T>A (p.Val83Glu)
9g.36246385C>ACA373419794CLTA,GNEc.355G>T (p.Val119Leu)
c.85G>T (p.Val29Leu)
c.262G>T (p.Val88Leu)
c.486-16813C>A (n.486-16813C>A)
c.247G>T (p.Val83Leu)
9g.36246385C>GCA373419795CLTA,GNEc.355G>C (p.Val119Leu)
c.85G>C (p.Val29Leu)
c.262G>C (p.Val88Leu)
c.486-16813C>G (n.486-16813C>G)
c.247G>C (p.Val83Leu)
9g.36246385C>TCA373419796CLTA,GNEc.355G>A (p.Val119Ile)
c.85G>A (p.Val29Ile)
c.262G>A (p.Val88Ile)
c.486-16813C>T (n.486-16813C>T)
c.247G>A (p.Val83Ile)
 gnomAD v4
9g.36246386T>ACA464620096CLTA,GNEc.354A>T (p.Ser118=)
c.84A>T (p.Ser28=)
c.261A>T (p.Ser87=)
c.486-16812T>A (n.486-16812T>A)
c.246A>T (p.Ser82=)
9g.36246386T>CCA464620097CLTA,GNEc.354A>G (p.Ser118=)
c.84A>G (p.Ser28=)
c.261A>G (p.Ser87=)
c.486-16812T>C (n.486-16812T>C)
c.246A>G (p.Ser82=)
9g.36246386T>GCA464620098CLTA,GNEc.354A>C (p.Ser118=)
c.84A>C (p.Ser28=)
c.261A>C (p.Ser87=)
c.486-16812T>G (n.486-16812T>G)
c.246A>C (p.Ser82=)
9g.36246387G>ACA373419797CLTA,GNEc.353C>T (p.Ser118Leu)
c.83C>T (p.Ser28Leu)
c.260C>T (p.Ser87Leu)
c.486-16811G>A (n.486-16811G>A)
c.245C>T (p.Ser82Leu)
9g.36246387G>CCA373419798CLTA,GNEc.353C>G (p.Ser118Ter)
c.83C>G (p.Ser28Ter)
c.260C>G (p.Ser87Ter)
c.486-16811G>C (n.486-16811G>C)
c.245C>G (p.Ser82Ter)
 gnomAD v4
9g.36246387G>TCA373419799CLTA,GNEc.353C>A (p.Ser118Ter)
c.83C>A (p.Ser28Ter)
c.260C>A (p.Ser87Ter)
c.486-16811G>T (n.486-16811G>T)
c.245C>A (p.Ser82Ter)
9g.36246388A>CCA373419801CLTA,GNEc.352T>G (p.Ser118Ala)
c.82T>G (p.Ser28Ala)
c.259T>G (p.Ser87Ala)
c.486-16810A>C (n.486-16810A>C)
c.244T>G (p.Ser82Ala)
9g.36246388A>GCA373419802CLTA,GNEc.352T>C (p.Ser118Pro)
c.82T>C (p.Ser28Pro)
c.259T>C (p.Ser87Pro)
c.486-16810A>G (n.486-16810A>G)
c.244T>C (p.Ser82Pro)
9g.36246388A>TCA373419800CLTA,GNEc.352T>A (p.Ser118Thr)
c.82T>A (p.Ser28Thr)
c.259T>A (p.Ser87Thr)
c.486-16810A>T (n.486-16810A>T)
c.244T>A (p.Ser82Thr)
9g.36246389C>ACA373419804CLTA,GNEc.351G>T (p.Glu117Asp)
c.81G>T (p.Glu27Asp)
c.258G>T (p.Glu86Asp)
c.486-16809C>A (n.486-16809C>A)
c.243G>T (p.Glu81Asp)
9g.36246389C>GCA373419803CLTA,GNEc.351G>C (p.Glu117Asp)
c.81G>C (p.Glu27Asp)
c.258G>C (p.Glu86Asp)
c.486-16809C>G (n.486-16809C>G)
c.243G>C (p.Glu81Asp)
 gnomAD v4
9g.36246389C>TCA464620104CLTA,GNEc.351G>A (p.Glu117=)
c.81G>A (p.Glu27=)
c.258G>A (p.Glu86=)
c.486-16809C>T (n.486-16809C>T)
c.243G>A (p.Glu81=)
9g.36246390T>ACA373419805CLTA,GNEc.350A>T (p.Glu117Val)
c.80A>T (p.Glu27Val)
c.257A>T (p.Glu86Val)
c.486-16808T>A (n.486-16808T>A)
c.242A>T (p.Glu81Val)
9g.36246390T>CCA373419806CLTA,GNEc.350A>G (p.Glu117Gly)
c.80A>G (p.Glu27Gly)
c.257A>G (p.Glu86Gly)
c.486-16808T>C (n.486-16808T>C)
c.242A>G (p.Glu81Gly)
9g.36246390T>GCA373419807CLTA,GNEc.350A>C (p.Glu117Ala)
c.80A>C (p.Glu27Ala)
c.257A>C (p.Glu86Ala)
c.486-16808T>G (n.486-16808T>G)
c.242A>C (p.Glu81Ala)
 ClinVar dbSNP
9g.36246391C>ACA373419808CLTA,GNEc.349G>T (p.Glu117Ter)
c.79G>T (p.Glu27Ter)
c.256G>T (p.Glu86Ter)
c.486-16807C>A (n.486-16807C>A)
c.241G>T (p.Glu81Ter)
9g.36246391C>GCA373419809CLTA,GNEc.349G>C (p.Glu117Gln)
c.79G>C (p.Glu27Gln)
c.256G>C (p.Glu86Gln)
c.486-16807C>G (n.486-16807C>G)
c.241G>C (p.Glu81Gln)
9g.36246391C>TCA373419810CLTA,GNEc.349G>A (p.Glu117Lys)
c.79G>A (p.Glu27Lys)
c.256G>A (p.Glu86Lys)
c.486-16807C>T (n.486-16807C>T)
c.241G>A (p.Glu81Lys)
9g.36246392C>ACA464620106CLTA,GNEc.348G>T (p.Val116=)
c.78G>T (p.Val26=)
c.255G>T (p.Val85=)
c.486-16806C>A (n.486-16806C>A)
c.240G>T (p.Val80=)
9g.36246392C>GCA464620107CLTA,GNEc.348G>C (p.Val116=)
c.78G>C (p.Val26=)
c.255G>C (p.Val85=)
c.486-16806C>G (n.486-16806C>G)
c.240G>C (p.Val80=)
9g.36246392C>TCA464620108CLTA,GNEc.348G>A (p.Val116=)
c.78G>A (p.Val26=)
c.255G>A (p.Val85=)
c.486-16806C>T (n.486-16806C>T)
c.240G>A (p.Val80=)
 ClinVar dbSNP
9g.36246393A=CA1846321064CLTA,GNEc.347T= (p.Val116=)
c.77T= (p.Val26=)
c.254T= (p.Val85=)
c.486-16805A= (n.486-16805A=)
c.239T= (p.Val80=)
9g.36246393A>CCA373419811CLTA,GNEc.347T>G (p.Val116Gly)
c.77T>G (p.Val26Gly)
c.254T>G (p.Val85Gly)
c.486-16805A>C (n.486-16805A>C)
c.239T>G (p.Val80Gly)
 dbSNP
9g.36246393A>GCA373419812CLTA,GNEc.347T>C (p.Val116Ala)
c.77T>C (p.Val26Ala)
c.254T>C (p.Val85Ala)
c.486-16805A>G (n.486-16805A>G)
c.239T>C (p.Val80Ala)
9g.36246393A>TCA373419813CLTA,GNEc.347T>A (p.Val116Glu)
c.77T>A (p.Val26Glu)
c.254T>A (p.Val85Glu)
c.486-16805A>T (n.486-16805A>T)
c.239T>A (p.Val80Glu)
9g.36246394C>ACA373419814CLTA,GNEc.346G>T (p.Val116Leu)
c.76G>T (p.Val26Leu)
c.253G>T (p.Val85Leu)
c.486-16804C>A (n.486-16804C>A)
c.238G>T (p.Val80Leu)
9g.36246394C=CA1846321069CLTA,GNEc.346G= (p.Val116=)
c.76G= (p.Val26=)
c.253G= (p.Val85=)
c.486-16804C= (n.486-16804C=)
c.238G= (p.Val80=)
9g.36246394C>GCA373419815CLTA,GNEc.346G>C (p.Val116Leu)
c.76G>C (p.Val26Leu)
c.253G>C (p.Val85Leu)
c.486-16804C>G (n.486-16804C>G)
c.238G>C (p.Val80Leu)
9g.36246394C>TCA373419816CLTA,GNEc.346G>A (p.Val116Met)
c.76G>A (p.Val26Met)
c.253G>A (p.Val85Met)
c.486-16804C>T (n.486-16804C>T)
c.238G>A (p.Val80Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246395C>ACA373419819CLTA,GNEc.345G>T (p.Met115Ile)
c.75G>T (p.Met25Ile)
c.252G>T (p.Met84Ile)
c.486-16803C>A (n.486-16803C>A)
c.237G>T (p.Met79Ile)
9g.36246395C>GCA373419817CLTA,GNEc.345G>C (p.Met115Ile)
c.75G>C (p.Met25Ile)
c.252G>C (p.Met84Ile)
c.486-16803C>G (n.486-16803C>G)
c.237G>C (p.Met79Ile)
9g.36246395C>TCA373419818CLTA,GNEc.345G>A (p.Met115Ile)
c.75G>A (p.Met25Ile)
c.252G>A (p.Met84Ile)
c.486-16803C>T (n.486-16803C>T)
c.237G>A (p.Met79Ile)
9g.36246396A>CCA373419820CLTA,GNEc.344T>G (p.Met115Arg)
c.74T>G (p.Met25Arg)
c.251T>G (p.Met84Arg)
c.486-16802A>C (n.486-16802A>C)
c.236T>G (p.Met79Arg)
9g.36246396A>GCA373419821CLTA,GNEc.344T>C (p.Met115Thr)
c.74T>C (p.Met25Thr)
c.251T>C (p.Met84Thr)
c.486-16802A>G (n.486-16802A>G)
c.236T>C (p.Met79Thr)
9g.36246396A>TCA373419822CLTA,GNEc.344T>A (p.Met115Lys)
c.74T>A (p.Met25Lys)
c.251T>A (p.Met84Lys)
c.486-16802A>T (n.486-16802A>T)
c.236T>A (p.Met79Lys)
9g.36246397T>ACA373419823CLTA,GNEc.343A>T (p.Met115Leu)
c.73A>T (p.Met25Leu)
c.250A>T (p.Met84Leu)
c.486-16801T>A (n.486-16801T>A)
c.235A>T (p.Met79Leu)
9g.36246397T>CCA373419824CLTA,GNEc.343A>G (p.Met115Val)
c.73A>G (p.Met25Val)
c.250A>G (p.Met84Val)
c.486-16801T>C (n.486-16801T>C)
c.235A>G (p.Met79Val)
 gnomAD v4
9g.36246397T>GCA373419825CLTA,GNEc.343A>C (p.Met115Leu)
c.73A>C (p.Met25Leu)
c.250A>C (p.Met84Leu)
c.486-16801T>G (n.486-16801T>G)
c.235A>C (p.Met79Leu)
9g.36246398G>ACA464620115CLTA,GNEc.342C>T (p.Ala114=)
c.72C>T (p.Ala24=)
c.249C>T (p.Ala83=)
c.486-16800G>A (n.486-16800G>A)
c.234C>T (p.Ala78=)
 gnomAD v4
9g.36246398G>CCA464620117CLTA,GNEc.342C>G (p.Ala114=)
c.72C>G (p.Ala24=)
c.249C>G (p.Ala83=)
c.486-16800G>C (n.486-16800G>C)
c.234C>G (p.Ala78=)
9g.36246398G>TCA464620116CLTA,GNEc.342C>A (p.Ala114=)
c.72C>A (p.Ala24=)
c.249C>A (p.Ala83=)
c.486-16800G>T (n.486-16800G>T)
c.234C>A (p.Ala78=)
 gnomAD v4
9g.36246399G>ACA373419826CLTA,GNEc.341C>T (p.Ala114Val)
c.71C>T (p.Ala24Val)
c.248C>T (p.Ala83Val)
c.486-16799G>A (n.486-16799G>A)
c.233C>T (p.Ala78Val)
9g.36246399G>CCA373419827CLTA,GNEc.341C>G (p.Ala114Gly)
c.71C>G (p.Ala24Gly)
c.248C>G (p.Ala83Gly)
c.486-16799G>C (n.486-16799G>C)
c.233C>G (p.Ala78Gly)
9g.36246399G>TCA373419828CLTA,GNEc.341C>A (p.Ala114Asp)
c.71C>A (p.Ala24Asp)
c.248C>A (p.Ala83Asp)
c.486-16799G>T (n.486-16799G>T)
c.233C>A (p.Ala78Asp)
9g.36246400C>ACA373419829CLTA,GNEc.340G>T (p.Ala114Ser)
c.70G>T (p.Ala24Ser)
c.247G>T (p.Ala83Ser)
c.486-16798C>A (n.486-16798C>A)
c.232G>T (p.Ala78Ser)
9g.36246400C=CA1846321072CLTA,GNEc.340G= (p.Ala114=)
c.70G= (p.Ala24=)
c.247G= (p.Ala83=)
c.486-16798C= (n.486-16798C=)
c.232G= (p.Ala78=)
9g.36246400C>GCA373419830CLTA,GNEc.340G>C (p.Ala114Pro)
c.70G>C (p.Ala24Pro)
c.247G>C (p.Ala83Pro)
c.486-16798C>G (n.486-16798C>G)
c.232G>C (p.Ala78Pro)
9g.36246400C>TCA373419831CLTA,GNEc.340G>A (p.Ala114Thr)
c.70G>A (p.Ala24Thr)
c.247G>A (p.Ala83Thr)
c.486-16798C>T (n.486-16798C>T)
c.232G>A (p.Ala78Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246401T>ACA464620121CLTA,GNEc.339A>T (p.Ala113=)
c.69A>T (p.Ala23=)
c.246A>T (p.Ala82=)
c.486-16797T>A (n.486-16797T>A)
c.231A>T (p.Ala77=)
9g.36246401T>CCA464620123CLTA,GNEc.339A>G (p.Ala113=)
c.69A>G (p.Ala23=)
c.246A>G (p.Ala82=)
c.486-16797T>C (n.486-16797T>C)
c.231A>G (p.Ala77=)
 ClinVar dbSNP
9g.36246401T>GCA464620124CLTA,GNEc.339A>C (p.Ala113=)
c.69A>C (p.Ala23=)
c.246A>C (p.Ala82=)
c.486-16797T>G (n.486-16797T>G)
c.231A>C (p.Ala77=)
 gnomAD v4
9g.36246401dupCA2689947828CLTA,GNEc.339dup (p.Ala114SerfsTer18)
c.69dup (p.Ala24SerfsTer18)
c.246dup (p.Ala83SerfsTer18)
c.486-16797dup (n.486-16797dup)
c.231dup (p.Ala78SerfsTer18)
 gnomAD v4
9g.36246402G>ACA373419834CLTA,GNEc.338C>T (p.Ala113Val)
c.68C>T (p.Ala23Val)
c.245C>T (p.Ala82Val)
c.486-16796G>A (n.486-16796G>A)
c.230C>T (p.Ala77Val)
9g.36246402G>CCA373419833CLTA,GNEc.338C>G (p.Ala113Gly)
c.68C>G (p.Ala23Gly)
c.245C>G (p.Ala82Gly)
c.486-16796G>C (n.486-16796G>C)
c.230C>G (p.Ala77Gly)
9g.36246402G>TCA373419832CLTA,GNEc.338C>A (p.Ala113Glu)
c.68C>A (p.Ala23Glu)
c.245C>A (p.Ala82Glu)
c.486-16796G>T (n.486-16796G>T)
c.230C>A (p.Ala77Glu)
9g.36246403C>ACA373419835CLTA,GNEc.337G>T (p.Ala113Ser)
c.67G>T (p.Ala23Ser)
c.244G>T (p.Ala82Ser)
c.486-16795C>A (n.486-16795C>A)
c.229G>T (p.Ala77Ser)
9g.36246403C>GCA373419836CLTA,GNEc.337G>C (p.Ala113Pro)
c.67G>C (p.Ala23Pro)
c.244G>C (p.Ala82Pro)
c.486-16795C>G (n.486-16795C>G)
c.229G>C (p.Ala77Pro)
9g.36246403C>TCA373419837CLTA,GNEc.337G>A (p.Ala113Thr)
c.67G>A (p.Ala23Thr)
c.244G>A (p.Ala82Thr)
c.486-16795C>T (n.486-16795C>T)
c.229G>A (p.Ala77Thr)
9g.36246404C>ACA373419838CLTA,GNEc.336G>T (p.Glu112Asp)
c.66G>T (p.Glu22Asp)
c.243G>T (p.Glu81Asp)
c.486-16794C>A (n.486-16794C>A)
c.228G>T (p.Glu76Asp)
9g.36246404C>GCA373419839CLTA,GNEc.336G>C (p.Glu112Asp)
c.66G>C (p.Glu22Asp)
c.243G>C (p.Glu81Asp)
c.486-16794C>G (n.486-16794C>G)
c.228G>C (p.Glu76Asp)
 gnomAD v4
9g.36246404C>TCA464620126CLTA,GNEc.336G>A (p.Glu112=)
c.66G>A (p.Glu22=)
c.243G>A (p.Glu81=)
c.486-16794C>T (n.486-16794C>T)
c.228G>A (p.Glu76=)
 ClinVar
9g.36246405T>ACA373419841CLTA,GNEc.335A>T (p.Glu112Val)
c.65A>T (p.Glu22Val)
c.242A>T (p.Glu81Val)
c.486-16793T>A (n.486-16793T>A)
c.227A>T (p.Glu76Val)
9g.36246405T>CCA373419840CLTA,GNEc.335A>G (p.Glu112Gly)
c.65A>G (p.Glu22Gly)
c.242A>G (p.Glu81Gly)
c.486-16793T>C (n.486-16793T>C)
c.227A>G (p.Glu76Gly)
 gnomAD v4
9g.36246405T>GCA5056743CLTA,GNEc.335A>C (p.Glu112Ala)
c.65A>C (p.Glu22Ala)
c.242A>C (p.Glu81Ala)
c.486-16793T>G (n.486-16793T>G)
c.227A>C (p.Glu76Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246405T=CA1846321076CLTA,GNEc.335A= (p.Glu112=)
c.65A= (p.Glu22=)
c.242A= (p.Glu81=)
c.486-16793T= (n.486-16793T=)
c.227A= (p.Glu76=)
9g.36246406C>ACA373419842CLTA,GNEc.334G>T (p.Glu112Ter)
c.64G>T (p.Glu22Ter)
c.241G>T (p.Glu81Ter)
c.486-16792C>A (n.486-16792C>A)
c.226G>T (p.Glu76Ter)
 dbSNP
9g.36246406C=CA1846321080CLTA,GNEc.334G= (p.Glu112=)
c.64G= (p.Glu22=)
c.241G= (p.Glu81=)
c.486-16792C= (n.486-16792C=)
c.226G= (p.Glu76=)
9g.36246406C>GCA373419843CLTA,GNEc.334G>C (p.Glu112Gln)
c.64G>C (p.Glu22Gln)
c.241G>C (p.Glu81Gln)
c.486-16792C>G (n.486-16792C>G)
c.226G>C (p.Glu76Gln)
9g.36246406C>TCA373419844CLTA,GNEc.334G>A (p.Glu112Lys)
c.64G>A (p.Glu22Lys)
c.241G>A (p.Glu81Lys)
c.486-16792C>T (n.486-16792C>T)
c.226G>A (p.Glu76Lys)
 dbSNP
9g.36246407A=CA1846321084CLTA,GNEc.333T= (p.Asp111=)
c.63T= (p.Asp21=)
c.240T= (p.Asp80=)
c.486-16791A= (n.486-16791A=)
c.225T= (p.Asp75=)
9g.36246407A>CCA373419845CLTA,GNEc.333T>G (p.Asp111Glu)
c.63T>G (p.Asp21Glu)
c.240T>G (p.Asp80Glu)
c.486-16791A>C (n.486-16791A>C)
c.225T>G (p.Asp75Glu)
9g.36246407A>GCA5056744CLTA,GNEc.333T>C (p.Asp111=)
c.63T>C (p.Asp21=)
c.240T>C (p.Asp80=)
c.486-16791A>G (n.486-16791A>G)
c.225T>C (p.Asp75=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246407A>TCA373419846CLTA,GNEc.333T>A (p.Asp111Glu)
c.63T>A (p.Asp21Glu)
c.240T>A (p.Asp80Glu)
c.486-16791A>T (n.486-16791A>T)
c.225T>A (p.Asp75Glu)
9g.36246408T>ACA373419847CLTA,GNEc.332A>T (p.Asp111Val)
c.62A>T (p.Asp21Val)
c.239A>T (p.Asp80Val)
c.486-16790T>A (n.486-16790T>A)
c.224A>T (p.Asp75Val)
9g.36246408T>CCA373419849CLTA,GNEc.332A>G (p.Asp111Gly)
c.62A>G (p.Asp21Gly)
c.239A>G (p.Asp80Gly)
c.486-16790T>C (n.486-16790T>C)
c.224A>G (p.Asp75Gly)
 gnomAD v4
9g.36246408T>GCA373419848CLTA,GNEc.332A>C (p.Asp111Ala)
c.62A>C (p.Asp21Ala)
c.239A>C (p.Asp80Ala)
c.486-16790T>G (n.486-16790T>G)
c.224A>C (p.Asp75Ala)
9g.36246411_36246413delCA2580616200CLTA,GNEc.330_332del (p.Glu110del)
c.60_62del (p.Glu20del)
c.237_239del (p.Glu79del)
c.486-16787_486-16785del (n.486-16787_486-16785del)
c.222_224del (p.Glu74del)
 ClinVar gnomAD v4
9g.36246409C>ACA373419850CLTA,GNEc.331G>T (p.Asp111Tyr)
c.61G>T (p.Asp21Tyr)
c.238G>T (p.Asp80Tyr)
c.486-16789C>A (n.486-16789C>A)
c.223G>T (p.Asp75Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246409C=CA1846321087CLTA,GNEc.331G= (p.Asp111=)
c.61G= (p.Asp21=)
c.238G= (p.Asp80=)
c.486-16789C= (n.486-16789C=)
c.223G= (p.Asp75=)
9g.36246409C>GCA373419851CLTA,GNEc.331G>C (p.Asp111His)
c.61G>C (p.Asp21His)
c.238G>C (p.Asp80His)
c.486-16789C>G (n.486-16789C>G)
c.223G>C (p.Asp75His)
9g.36246409C>TCA373419852CLTA,GNEc.331G>A (p.Asp111Asn)
c.61G>A (p.Asp21Asn)
c.238G>A (p.Asp80Asn)
c.486-16789C>T (n.486-16789C>T)
c.223G>A (p.Asp75Asn)
9g.36246410T>ACA373419853CLTA,GNEc.330A>T (p.Glu110Asp)
c.60A>T (p.Glu20Asp)
c.237A>T (p.Glu79Asp)
c.486-16788T>A (n.486-16788T>A)
c.222A>T (p.Glu74Asp)
9g.36246410T>CCA464620133CLTA,GNEc.330A>G (p.Glu110=)
c.60A>G (p.Glu20=)
c.237A>G (p.Glu79=)
c.486-16788T>C (n.486-16788T>C)
c.222A>G (p.Glu74=)
9g.36246410T>GCA373419854CLTA,GNEc.330A>C (p.Glu110Asp)
c.60A>C (p.Glu20Asp)
c.237A>C (p.Glu79Asp)
c.486-16788T>G (n.486-16788T>G)
c.222A>C (p.Glu74Asp)
9g.36246411T>ACA373419855CLTA,GNEc.329A>T (p.Glu110Val)
c.59A>T (p.Glu20Val)
c.236A>T (p.Glu79Val)
c.486-16787T>A (n.486-16787T>A)
c.221A>T (p.Glu74Val)
9g.36246411T>CCA373419856CLTA,GNEc.329A>G (p.Glu110Gly)
c.59A>G (p.Glu20Gly)
c.236A>G (p.Glu79Gly)
c.486-16787T>C (n.486-16787T>C)
c.221A>G (p.Glu74Gly)
9g.36246411T>GCA373419857CLTA,GNEc.329A>C (p.Glu110Ala)
c.59A>C (p.Glu20Ala)
c.236A>C (p.Glu79Ala)
c.486-16787T>G (n.486-16787T>G)
c.221A>C (p.Glu74Ala)
9g.36246413_36246414delCA1123252992CLTA,GNEc.328_329del (p.Glu110ArgfsTer2)
c.58_59del (p.Glu20ArgfsTer2)
c.235_236del (p.Glu79ArgfsTer2)
c.486-16785_486-16784del (n.486-16785_486-16784del)
c.220_221del (p.Glu74ArgfsTer2)
 gnomAD v3 gnomAD v4
9g.36246412C>ACA373419858CLTA,GNEc.328G>T (p.Glu110Ter)
c.58G>T (p.Glu20Ter)
c.235G>T (p.Glu79Ter)
c.486-16786C>A (n.486-16786C>A)
c.220G>T (p.Glu74Ter)
9g.36246412C>GCA373419859CLTA,GNEc.328G>C (p.Glu110Gln)
c.58G>C (p.Glu20Gln)
c.235G>C (p.Glu79Gln)
c.486-16786C>G (n.486-16786C>G)
c.220G>C (p.Glu74Gln)
9g.36246412C>TCA373419860CLTA,GNEc.328G>A (p.Glu110Lys)
c.58G>A (p.Glu20Lys)
c.235G>A (p.Glu79Lys)
c.486-16786C>T (n.486-16786C>T)
c.220G>A (p.Glu74Lys)
9g.36246413T>ACA464620136CLTA,GNEc.327A>T (p.Gly109=)
c.57A>T (p.Gly19=)
c.234A>T (p.Gly78=)
c.486-16785T>A (n.486-16785T>A)
c.219A>T (p.Gly73=)
9g.36246413T>CCA464620137CLTA,GNEc.327A>G (p.Gly109=)
c.57A>G (p.Gly19=)
c.234A>G (p.Gly78=)
c.486-16785T>C (n.486-16785T>C)
c.219A>G (p.Gly73=)
9g.36246413T>GCA464620138CLTA,GNEc.327A>C (p.Gly109=)
c.57A>C (p.Gly19=)
c.234A>C (p.Gly78=)
c.486-16785T>G (n.486-16785T>G)
c.219A>C (p.Gly73=)
9g.36246414C>ACA373419862CLTA,GNEc.326G>T (p.Gly109Val)
c.56G>T (p.Gly19Val)
c.233G>T (p.Gly78Val)
c.486-16784C>A (n.486-16784C>A)
c.218G>T (p.Gly73Val)
9g.36246414C=CA1846321096CLTA,GNEc.326G= (p.Gly109=)
c.56G= (p.Gly19=)
c.233G= (p.Gly78=)
c.486-16784C= (n.486-16784C=)
c.218G= (p.Gly73=)
9g.36246414C>GCA373419861CLTA,GNEc.326G>C (p.Gly109Ala)
c.56G>C (p.Gly19Ala)
c.233G>C (p.Gly78Ala)
c.486-16784C>G (n.486-16784C>G)
c.218G>C (p.Gly73Ala)
9g.36246414C>TCA10605580CLTA,GNEc.326G>A (p.Gly109Glu)
c.56G>A (p.Gly19Glu)
c.233G>A (p.Gly78Glu)
c.486-16784C>T (n.486-16784C>T)
c.218G>A (p.Gly73Glu)
 ClinVar dbSNP gnomAD v4
9g.36246415C>ACA373419863CLTA,GNEc.325G>T (p.Gly109Ter)
c.55G>T (p.Gly19Ter)
c.232G>T (p.Gly78Ter)
c.486-16783C>A (n.486-16783C>A)
c.217G>T (p.Gly73Ter)
9g.36246415C>GCA373419865CLTA,GNEc.325G>C (p.Gly109Arg)
c.55G>C (p.Gly19Arg)
c.232G>C (p.Gly78Arg)
c.486-16783C>G (n.486-16783C>G)
c.217G>C (p.Gly73Arg)
9g.36246415C>TCA373419864CLTA,GNEc.325G>A (p.Gly109Arg)
c.55G>A (p.Gly19Arg)
c.232G>A (p.Gly78Arg)
c.486-16783C>T (n.486-16783C>T)
c.217G>A (p.Gly73Arg)
9g.36246416C>ACA192828409CLTA,GNEc.324G>T (p.Arg108Ser)
c.54G>T (p.Arg18Ser)
c.231G>T (p.Arg77Ser)
c.486-16782C>A (n.486-16782C>A)
c.216G>T (p.Arg72Ser)
 dbSNP
9g.36246416C=CA1846321099CLTA,GNEc.324G= (p.Arg108=)
c.54G= (p.Arg18=)
c.231G= (p.Arg77=)
c.486-16782C= (n.486-16782C=)
c.216G= (p.Arg72=)
9g.36246416C>GCA373419866CLTA,GNEc.324G>C (p.Arg108Ser)
c.54G>C (p.Arg18Ser)
c.231G>C (p.Arg77Ser)
c.486-16782C>G (n.486-16782C>G)
c.216G>C (p.Arg72Ser)
9g.36246416C>TCA464620142CLTA,GNEc.324G>A (p.Arg108=)
c.54G>A (p.Arg18=)
c.231G>A (p.Arg77=)
c.486-16782C>T (n.486-16782C>T)
c.216G>A (p.Arg72=)
9g.36246417C>ACA373419867CLTA,GNEc.323G>T (p.Arg108Met)
c.53G>T (p.Arg18Met)
c.230G>T (p.Arg77Met)
c.486-16781C>A (n.486-16781C>A)
c.215G>T (p.Arg72Met)
9g.36246417C>GCA373419869CLTA,GNEc.323G>C (p.Arg108Thr)
c.53G>C (p.Arg18Thr)
c.230G>C (p.Arg77Thr)
c.486-16781C>G (n.486-16781C>G)
c.215G>C (p.Arg72Thr)
9g.36246417C>TCA373419868CLTA,GNEc.323G>A (p.Arg108Lys)
c.53G>A (p.Arg18Lys)
c.230G>A (p.Arg77Lys)
c.486-16781C>T (n.486-16781C>T)
c.215G>A (p.Arg72Lys)
9g.36246418T>ACA373419870CLTA,GNEc.322A>T (p.Arg108Trp)
c.52A>T (p.Arg18Trp)
c.229A>T (p.Arg77Trp)
c.486-16780T>A (n.486-16780T>A)
c.214A>T (p.Arg72Trp)
9g.36246418T>CCA373419871CLTA,GNEc.322A>G (p.Arg108Gly)
c.52A>G (p.Arg18Gly)
c.229A>G (p.Arg77Gly)
c.486-16780T>C (n.486-16780T>C)
c.214A>G (p.Arg72Gly)
9g.36246418T>GCA464620144CLTA,GNEc.322A>C (p.Arg108=)
c.52A>C (p.Arg18=)
c.229A>C (p.Arg77=)
c.486-16780T>G (n.486-16780T>G)
c.214A>C (p.Arg72=)
9g.36246419C>ACA464620147CLTA,GNEc.321G>T (p.Val107=)
c.51G>T (p.Val17=)
c.228G>T (p.Val76=)
c.486-16779C>A (n.486-16779C>A)
c.213G>T (p.Val71=)
9g.36246419C>GCA464620146CLTA,GNEc.321G>C (p.Val107=)
c.51G>C (p.Val17=)
c.228G>C (p.Val76=)
c.486-16779C>G (n.486-16779C>G)
c.213G>C (p.Val71=)
 COSMIC COSMIC COSMIC
9g.36246419C>TCA464620145CLTA,GNEc.321G>A (p.Val107=)
c.51G>A (p.Val17=)
c.228G>A (p.Val76=)
c.486-16779C>T (n.486-16779C>T)
c.213G>A (p.Val71=)
9g.36246419_36246422delinsCACACA1846321102CLTA,GNEc.318_321delinsTGTG (p.Ile106=)
c.48_51delinsTGTG (p.Ile16=)
c.225_228delinsTGTG (p.Ile75=)
c.486-16779_486-16776delinsCACA (n.486-16779_486-16776delinsCACA)
c.210_213delinsTGTG (p.Ile70=)
9g.36246419_36246420insTGCA1123252996CLTA,GNEc.320_321insCA (p.Asp111LysfsTer10)
c.50_51insCA (p.Asp21LysfsTer10)
c.227_228insCA (p.Asp80LysfsTer10)
c.486-16779_486-16778insTG (n.486-16779_486-16778insTG)
c.212_213insCA (p.Asp75LysfsTer10)
 gnomAD v3 gnomAD v4
9g.36246420A>CCA373419872CLTA,GNEc.320T>G (p.Val107Gly)
c.50T>G (p.Val17Gly)
c.227T>G (p.Val76Gly)
c.486-16778A>C (n.486-16778A>C)
c.212T>G (p.Val71Gly)
9g.36246420A>GCA373419873CLTA,GNEc.320T>C (p.Val107Ala)
c.50T>C (p.Val17Ala)
c.227T>C (p.Val76Ala)
c.486-16778A>G (n.486-16778A>G)
c.212T>C (p.Val71Ala)
9g.36246420A>TCA373419874CLTA,GNEc.320T>A (p.Val107Glu)
c.50T>A (p.Val17Glu)
c.227T>A (p.Val76Glu)
c.486-16778A>T (n.486-16778A>T)
c.212T>A (p.Val71Glu)
9g.36246421_36246423delCA588147230CLTA,GNEc.318_320del (p.Ile106_Val107delinsMet)
c.48_50del (p.Ile16_Val17delinsMet)
c.225_227del (p.Ile75_Val76delinsMet)
c.486-16777_486-16775del (n.486-16777_486-16775del)
c.210_212del (p.Ile70_Val71delinsMet)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246421C>ACA373419875CLTA,GNEc.319G>T (p.Val107Leu)
c.49G>T (p.Val17Leu)
c.226G>T (p.Val76Leu)
c.486-16777C>A (n.486-16777C>A)
c.211G>T (p.Val71Leu)
9g.36246421C>GCA373419876CLTA,GNEc.319G>C (p.Val107Leu)
c.49G>C (p.Val17Leu)
c.226G>C (p.Val76Leu)
c.486-16777C>G (n.486-16777C>G)
c.211G>C (p.Val71Leu)
9g.36246421C>TCA373419877CLTA,GNEc.319G>A (p.Val107Met)
c.49G>A (p.Val17Met)
c.226G>A (p.Val76Met)
c.486-16777C>T (n.486-16777C>T)
c.211G>A (p.Val71Met)
9g.36246422A>CCA373419878CLTA,GNEc.318T>G (p.Ile106Met)
c.48T>G (p.Ile16Met)
c.225T>G (p.Ile75Met)
c.486-16776A>C (n.486-16776A>C)
c.210T>G (p.Ile70Met)
9g.36246422A>GCA464620149CLTA,GNEc.318T>C (p.Ile106=)
c.48T>C (p.Ile16=)
c.225T>C (p.Ile75=)
c.486-16776A>G (n.486-16776A>G)
c.210T>C (p.Ile70=)
9g.36246422A>TCA464620148CLTA,GNEc.318T>A (p.Ile106=)
c.48T>A (p.Ile16=)
c.225T>A (p.Ile75=)
c.486-16776A>T (n.486-16776A>T)
c.210T>A (p.Ile70=)
9g.36246423A>CCA373419881CLTA,GNEc.317T>G (p.Ile106Ser)
c.47T>G (p.Ile16Ser)
c.224T>G (p.Ile75Ser)
c.486-16775A>C (n.486-16775A>C)
c.209T>G (p.Ile70Ser)
9g.36246423A>GCA373419880CLTA,GNEc.317T>C (p.Ile106Thr)
c.47T>C (p.Ile16Thr)
c.224T>C (p.Ile75Thr)
c.486-16775A>G (n.486-16775A>G)
c.209T>C (p.Ile70Thr)
9g.36246423A>TCA373419879CLTA,GNEc.317T>A (p.Ile106Asn)
c.47T>A (p.Ile16Asn)
c.224T>A (p.Ile75Asn)
c.486-16775A>T (n.486-16775A>T)
c.209T>A (p.Ile70Asn)
9g.36246424T>ACA373419882CLTA,GNEc.316A>T (p.Ile106Phe)
c.46A>T (p.Ile16Phe)
c.223A>T (p.Ile75Phe)
c.486-16774T>A (n.486-16774T>A)
c.208A>T (p.Ile70Phe)
9g.36246424T>CCA373419883CLTA,GNEc.316A>G (p.Ile106Val)
c.46A>G (p.Ile16Val)
c.223A>G (p.Ile75Val)
c.486-16774T>C (n.486-16774T>C)
c.208A>G (p.Ile70Val)
9g.36246424T>GCA373419884CLTA,GNEc.316A>C (p.Ile106Leu)
c.46A>C (p.Ile16Leu)
c.223A>C (p.Ile75Leu)
c.486-16774T>G (n.486-16774T>G)
c.208A>C (p.Ile70Leu)
9g.36246425T>ACA464620152CLTA,GNEc.315A>T (p.Thr105=)
c.45A>T (p.Thr15=)
c.222A>T (p.Thr74=)
c.486-16773T>A (n.486-16773T>A)
c.207A>T (p.Thr69=)
9g.36246425T>CCA464620154CLTA,GNEc.315A>G (p.Thr105=)
c.45A>G (p.Thr15=)
c.222A>G (p.Thr74=)
c.486-16773T>C (n.486-16773T>C)
c.207A>G (p.Thr69=)
 dbSNP gnomAD v2
9g.36246425T>GCA464620153CLTA,GNEc.315A>C (p.Thr105=)
c.45A>C (p.Thr15=)
c.222A>C (p.Thr74=)
c.486-16773T>G (n.486-16773T>G)
c.207A>C (p.Thr69=)
9g.36246425T=CA1846321107CLTA,GNEc.315A= (p.Thr105=)
c.45A= (p.Thr15=)
c.222A= (p.Thr74=)
c.486-16773T= (n.486-16773T=)
c.207A= (p.Thr69=)
9g.36246430_36246431delCA2580616201CLTA,GNEc.314_315del (p.Thr105AsnfsTer7)
c.44_45del (p.Thr15AsnfsTer7)
c.221_222del (p.Thr74AsnfsTer7)
c.486-16768_486-16767del (n.486-16768_486-16767del)
c.206_207del (p.Thr69AsnfsTer7)
 ClinVar dbSNP
9g.36246426G>ACA373419885CLTA,GNEc.314C>T (p.Thr105Ile)
c.44C>T (p.Thr15Ile)
c.221C>T (p.Thr74Ile)
c.486-16772G>A (n.486-16772G>A)
c.206C>T (p.Thr69Ile)
 COSMIC COSMIC COSMIC
9g.36246426G>CCA373419886CLTA,GNEc.314C>G (p.Thr105Arg)
c.44C>G (p.Thr15Arg)
c.221C>G (p.Thr74Arg)
c.486-16772G>C (n.486-16772G>C)
c.206C>G (p.Thr69Arg)
9g.36246426G>TCA373419887CLTA,GNEc.314C>A (p.Thr105Lys)
c.44C>A (p.Thr15Lys)
c.221C>A (p.Thr74Lys)
c.486-16772G>T (n.486-16772G>T)
c.206C>A (p.Thr69Lys)
9g.36246427T>ACA373419888CLTA,GNEc.313A>T (p.Thr105Ser)
c.43A>T (p.Thr15Ser)
c.220A>T (p.Thr74Ser)
c.486-16771T>A (n.486-16771T>A)
c.205A>T (p.Thr69Ser)
9g.36246427T>CCA373419889CLTA,GNEc.313A>G (p.Thr105Ala)
c.43A>G (p.Thr15Ala)
c.220A>G (p.Thr74Ala)
c.486-16771T>C (n.486-16771T>C)
c.205A>G (p.Thr69Ala)
9g.36246427T>GCA192828413CLTA,GNEc.313A>C (p.Thr105Pro)
c.43A>C (p.Thr15Pro)
c.220A>C (p.Thr74Pro)
c.486-16771T>G (n.486-16771T>G)
c.205A>C (p.Thr69Pro)
 dbSNP
9g.36246427T=CA1846321114CLTA,GNEc.313A= (p.Thr105=)
c.43A= (p.Thr15=)
c.220A= (p.Thr74=)
c.486-16771T= (n.486-16771T=)
c.205A= (p.Thr69=)
9g.36246428G>ACA464620155CLTA,GNEc.312C>T (p.His104=)
c.42C>T (p.His14=)
c.219C>T (p.His73=)
c.486-16770G>A (n.486-16770G>A)
c.204C>T (p.His68=)
9g.36246428G>CCA373419890CLTA,GNEc.312C>G (p.His104Gln)
c.42C>G (p.His14Gln)
c.219C>G (p.His73Gln)
c.486-16770G>C (n.486-16770G>C)
c.204C>G (p.His68Gln)
9g.36246428G>TCA373419891CLTA,GNEc.312C>A (p.His104Gln)
c.42C>A (p.His14Gln)
c.219C>A (p.His73Gln)
c.486-16770G>T (n.486-16770G>T)
c.204C>A (p.His68Gln)
9g.36246429T>ACA373419893CLTA,GNEc.311A>T (p.His104Leu)
c.41A>T (p.His14Leu)
c.218A>T (p.His73Leu)
c.486-16769T>A (n.486-16769T>A)
c.203A>T (p.His68Leu)
9g.36246429T>CCA373419894CLTA,GNEc.311A>G (p.His104Arg)
c.41A>G (p.His14Arg)
c.218A>G (p.His73Arg)
c.486-16769T>C (n.486-16769T>C)
c.203A>G (p.His68Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.36246429T>GCA373419892CLTA,GNEc.311A>C (p.His104Pro)
c.41A>C (p.His14Pro)
c.218A>C (p.His73Pro)
c.486-16769T>G (n.486-16769T>G)
c.203A>C (p.His68Pro)
9g.36246429T=CA1846321119CLTA,GNEc.311A= (p.His104=)
c.41A= (p.His14=)
c.218A= (p.His73=)
c.486-16769T= (n.486-16769T=)
c.203A= (p.His68=)
9g.36246430G>ACA373419895CLTA,GNEc.310C>T (p.His104Tyr)
c.40C>T (p.His14Tyr)
c.217C>T (p.His73Tyr)
c.486-16768G>A (n.486-16768G>A)
c.202C>T (p.His68Tyr)
 gnomAD v4
9g.36246430G>CCA373419896CLTA,GNEc.310C>G (p.His104Asp)
c.40C>G (p.His14Asp)
c.217C>G (p.His73Asp)
c.486-16768G>C (n.486-16768G>C)
c.202C>G (p.His68Asp)
9g.36246430G>TCA373419897CLTA,GNEc.310C>A (p.His104Asn)
c.40C>A (p.His14Asn)
c.217C>A (p.His73Asn)
c.486-16768G>T (n.486-16768G>T)
c.202C>A (p.His68Asn)
9g.36246431T>ACA464620156CLTA,GNEc.309A>T (p.Leu103=)
c.39A>T (p.Leu13=)
c.216A>T (p.Leu72=)
c.486-16767T>A (n.486-16767T>A)
c.201A>T (p.Leu67=)
9g.36246431T>CCA464620157CLTA,GNEc.309A>G (p.Leu103=)
c.39A>G (p.Leu13=)
c.216A>G (p.Leu72=)
c.486-16767T>C (n.486-16767T>C)
c.201A>G (p.Leu67=)
9g.36246431T>GCA464620158CLTA,GNEc.309A>C (p.Leu103=)
c.39A>C (p.Leu13=)
c.216A>C (p.Leu72=)
c.486-16767T>G (n.486-16767T>G)
c.201A>C (p.Leu67=)
9g.36246432A>CCA373419898CLTA,GNEc.308T>G (p.Leu103Arg)
c.38T>G (p.Leu13Arg)
c.215T>G (p.Leu72Arg)
c.486-16766A>C (n.486-16766A>C)
c.200T>G (p.Leu67Arg)
9g.36246432A>GCA373419899CLTA,GNEc.308T>C (p.Leu103Pro)
c.38T>C (p.Leu13Pro)
c.215T>C (p.Leu72Pro)
c.486-16766A>G (n.486-16766A>G)
c.200T>C (p.Leu67Pro)
9g.36246432A>TCA373419900CLTA,GNEc.308T>A (p.Leu103Gln)
c.38T>A (p.Leu13Gln)
c.215T>A (p.Leu72Gln)
c.486-16766A>T (n.486-16766A>T)
c.200T>A (p.Leu67Gln)
9g.36246433G>ACA464620159CLTA,GNEc.307C>T (p.Leu103=)
c.37C>T (p.Leu13=)
c.214C>T (p.Leu72=)
c.486-16765G>A (n.486-16765G>A)
c.199C>T (p.Leu67=)
9g.36246433G>CCA373419901CLTA,GNEc.307C>G (p.Leu103Val)
c.37C>G (p.Leu13Val)
c.214C>G (p.Leu72Val)
c.486-16765G>C (n.486-16765G>C)
c.199C>G (p.Leu67Val)
9g.36246433G>TCA373419902CLTA,GNEc.307C>A (p.Leu103Ile)
c.37C>A (p.Leu13Ile)
c.214C>A (p.Leu72Ile)
c.486-16765G>T (n.486-16765G>T)
c.199C>A (p.Leu67Ile)
 gnomAD v4
9g.36246434C>ACA192828424CLTA,GNEc.306G>T (p.Arg102Ser)
c.36G>T (p.Arg12Ser)
c.213G>T (p.Arg71Ser)
c.486-16764C>A (n.486-16764C>A)
c.198G>T (p.Arg66Ser)
 dbSNP
9g.36246434C=CA1846321120CLTA,GNEc.306G= (p.Arg102=)
c.36G= (p.Arg12=)
c.213G= (p.Arg71=)
c.486-16764C= (n.486-16764C=)
c.198G= (p.Arg66=)
9g.36246434C>GCA373419903CLTA,GNEc.306G>C (p.Arg102Ser)
c.36G>C (p.Arg12Ser)
c.213G>C (p.Arg71Ser)
c.486-16764C>G (n.486-16764C>G)
c.198G>C (p.Arg66Ser)
9g.36246434C>TCA464620160CLTA,GNEc.306G>A (p.Arg102=)
c.36G>A (p.Arg12=)
c.213G>A (p.Arg71=)
c.486-16764C>T (n.486-16764C>T)
c.198G>A (p.Arg66=)
 ClinVar
9g.36246435C>ACA373419904CLTA,GNEc.305G>T (p.Arg102Met)
c.35G>T (p.Arg12Met)
c.212G>T (p.Arg71Met)
c.486-16763C>A (n.486-16763C>A)
c.197G>T (p.Arg66Met)
9g.36246435C=CA1846321124CLTA,GNEc.305G= (p.Arg102=)
c.35G= (p.Arg12=)
c.212G= (p.Arg71=)
c.486-16763C= (n.486-16763C=)
c.197G= (p.Arg66=)
9g.36246435C>GCA373419905CLTA,GNEc.305G>C (p.Arg102Thr)
c.35G>C (p.Arg12Thr)
c.212G>C (p.Arg71Thr)
c.486-16763C>G (n.486-16763C>G)
c.197G>C (p.Arg66Thr)
9g.36246435C>TCA5056745CLTA,GNEc.305G>A (p.Arg102Lys)
c.35G>A (p.Arg12Lys)
c.212G>A (p.Arg71Lys)
c.486-16763C>T (n.486-16763C>T)
c.197G>A (p.Arg66Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246436T>ACA10606885CLTA,GNEc.304A>T (p.Arg102Trp)
c.34A>T (p.Arg12Trp)
c.211A>T (p.Arg71Trp)
c.486-16762T>A (n.486-16762T>A)
c.196A>T (p.Arg66Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246436T>CCA373419906CLTA,GNEc.304A>G (p.Arg102Gly)
c.34A>G (p.Arg12Gly)
c.211A>G (p.Arg71Gly)
c.486-16762T>C (n.486-16762T>C)
c.196A>G (p.Arg66Gly)
9g.36246436T>GCA464620162CLTA,GNEc.304A>C (p.Arg102=)
c.34A>C (p.Arg12=)
c.211A>C (p.Arg71=)
c.486-16762T>G (n.486-16762T>G)
c.196A>C (p.Arg66=)
9g.36246436T=CA1846321130CLTA,GNEc.304A= (p.Arg102=)
c.34A= (p.Arg12=)
c.211A= (p.Arg71=)
c.486-16762T= (n.486-16762T=)
c.196A= (p.Arg66=)
9g.36246437G>ACA5056746CLTA,GNEc.303C>T (p.Thr101=)
c.33C>T (p.Thr11=)
c.210C>T (p.Thr70=)
c.486-16761G>A (n.486-16761G>A)
c.195C>T (p.Thr65=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246437G>CCA464620163CLTA,GNEc.303C>G (p.Thr101=)
c.33C>G (p.Thr11=)
c.210C>G (p.Thr70=)
c.486-16761G>C (n.486-16761G>C)
c.195C>G (p.Thr65=)
 gnomAD v4
9g.36246437G=CA1846321138CLTA,GNEc.303C= (p.Thr101=)
c.33C= (p.Thr11=)
c.210C= (p.Thr70=)
c.486-16761G= (n.486-16761G=)
c.195C= (p.Thr65=)
9g.36246437G>TCA464620164CLTA,GNEc.303C>A (p.Thr101=)
c.33C>A (p.Thr11=)
c.210C>A (p.Thr70=)
c.486-16761G>T (n.486-16761G>T)
c.195C>A (p.Thr65=)
9g.36246438G>ACA373419907CLTA,GNEc.302C>T (p.Thr101Ile)
c.32C>T (p.Thr11Ile)
c.209C>T (p.Thr70Ile)
c.486-16760G>A (n.486-16760G>A)
c.194C>T (p.Thr65Ile)
 gnomAD v4
9g.36246438G>CCA373419908CLTA,GNEc.302C>G (p.Thr101Ser)
c.32C>G (p.Thr11Ser)
c.209C>G (p.Thr70Ser)
c.486-16760G>C (n.486-16760G>C)
c.194C>G (p.Thr65Ser)
 dbSNP
9g.36246438G=CA1846321141CLTA,GNEc.302C= (p.Thr101=)
c.32C= (p.Thr11=)
c.209C= (p.Thr70=)
c.486-16760G= (n.486-16760G=)
c.194C= (p.Thr65=)
9g.36246438G>TCA373419909CLTA,GNEc.302C>A (p.Thr101Asn)
c.32C>A (p.Thr11Asn)
c.209C>A (p.Thr70Asn)
c.486-16760G>T (n.486-16760G>T)
c.194C>A (p.Thr65Asn)
9g.36246439T>ACA373419910CLTA,GNEc.301A>T (p.Thr101Ser)
c.31A>T (p.Thr11Ser)
c.208A>T (p.Thr70Ser)
c.486-16759T>A (n.486-16759T>A)
c.193A>T (p.Thr65Ser)
 gnomAD v4
9g.36246439T>CCA373419911CLTA,GNEc.301A>G (p.Thr101Ala)
c.31A>G (p.Thr11Ala)
c.208A>G (p.Thr70Ala)
c.486-16759T>C (n.486-16759T>C)
c.193A>G (p.Thr65Ala)
 ClinVar
9g.36246439T>GCA373419912CLTA,GNEc.301A>C (p.Thr101Pro)
c.31A>C (p.Thr11Pro)
c.208A>C (p.Thr70Pro)
c.486-16759T>G (n.486-16759T>G)
c.193A>C (p.Thr65Pro)
9g.36246440G>ACA5056747CLTA,GNEc.300C>T (p.Asn100=)
c.30C>T (p.Asn10=)
c.207C>T (p.Asn69=)
c.486-16758G>A (n.486-16758G>A)
c.192C>T (p.Asn64=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246440G>CCA373419913CLTA,GNEc.300C>G (p.Asn100Lys)
c.30C>G (p.Asn10Lys)
c.207C>G (p.Asn69Lys)
c.486-16758G>C (n.486-16758G>C)
c.192C>G (p.Asn64Lys)
9g.36246440G=CA1846321149CLTA,GNEc.300C= (p.Asn100=)
c.30C= (p.Asn10=)
c.207C= (p.Asn69=)
c.486-16758G= (n.486-16758G=)
c.192C= (p.Asn64=)
9g.36246440G>TCA373419914CLTA,GNEc.300C>A (p.Asn100Lys)
c.30C>A (p.Asn10Lys)
c.207C>A (p.Asn69Lys)
c.486-16758G>T (n.486-16758G>T)
c.192C>A (p.Asn64Lys)
9g.36246441T>ACA373419915CLTA,GNEc.299A>T (p.Asn100Ile)
c.29A>T (p.Asn10Ile)
c.206A>T (p.Asn69Ile)
c.486-16757T>A (n.486-16757T>A)
c.191A>T (p.Asn64Ile)
9g.36246441T>CCA373419916CLTA,GNEc.299A>G (p.Asn100Ser)
c.29A>G (p.Asn10Ser)
c.206A>G (p.Asn69Ser)
c.486-16757T>C (n.486-16757T>C)
c.191A>G (p.Asn64Ser)
9g.36246441T>GCA373419917CLTA,GNEc.299A>C (p.Asn100Thr)
c.29A>C (p.Asn10Thr)
c.206A>C (p.Asn69Thr)
c.486-16757T>G (n.486-16757T>G)
c.191A>C (p.Asn64Thr)
9g.36246442T>ACA373419919CLTA,GNEc.298A>T (p.Asn100Tyr)
c.28A>T (p.Asn10Tyr)
c.205A>T (p.Asn69Tyr)
c.486-16756T>A (n.486-16756T>A)
c.190A>T (p.Asn64Tyr)
9g.36246442T>CCA373419920CLTA,GNEc.298A>G (p.Asn100Asp)
c.28A>G (p.Asn10Asp)
c.205A>G (p.Asn69Asp)
c.486-16756T>C (n.486-16756T>C)
c.190A>G (p.Asn64Asp)
9g.36246442T>GCA373419918CLTA,GNEc.298A>C (p.Asn100His)
c.28A>C (p.Asn10His)
c.205A>C (p.Asn69His)
c.486-16756T>G (n.486-16756T>G)
c.190A>C (p.Asn64His)
9g.36246443A>CCA373419921CLTA,GNEc.297T>G (p.Ile99Met)
c.27T>G (p.Ile9Met)
c.204T>G (p.Ile68Met)
c.486-16755A>C (n.486-16755A>C)
c.189T>G (p.Ile63Met)
9g.36246443A>GCA464620167CLTA,GNEc.297T>C (p.Ile99=)
c.27T>C (p.Ile9=)
c.204T>C (p.Ile68=)
c.486-16755A>G (n.486-16755A>G)
c.189T>C (p.Ile63=)
 ClinVar
9g.36246443A>TCA464620168CLTA,GNEc.297T>A (p.Ile99=)
c.27T>A (p.Ile9=)
c.204T>A (p.Ile68=)
c.486-16755A>T (n.486-16755A>T)
c.189T>A (p.Ile63=)
9g.36246444A>CCA373419922CLTA,GNEc.296T>G (p.Ile99Ser)
c.26T>G (p.Ile9Ser)
c.203T>G (p.Ile68Ser)
c.486-16754A>C (n.486-16754A>C)
c.188T>G (p.Ile63Ser)
9g.36246444A>GCA373419923CLTA,GNEc.296T>C (p.Ile99Thr)
c.26T>C (p.Ile9Thr)
c.203T>C (p.Ile68Thr)
c.486-16754A>G (n.486-16754A>G)
c.188T>C (p.Ile63Thr)
 COSMIC COSMIC COSMIC
9g.36246444A>TCA373419924CLTA,GNEc.296T>A (p.Ile99Asn)
c.26T>A (p.Ile9Asn)
c.203T>A (p.Ile68Asn)
c.486-16754A>T (n.486-16754A>T)
c.188T>A (p.Ile63Asn)
9g.36246445T>ACA373419925CLTA,GNEc.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)
9g.36246445T>CCA373419926CLTA,GNEc.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)
9g.36246445T>GCA373419927CLTA,GNEc.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)
9g.36246446G>ACA464620171CLTA,GNEc.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=)
9g.36246446G>CCA373419928CLTA,GNEc.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)
9g.36246446G>TCA373419929CLTA,GNEc.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)
9g.36246447T>ACA373419930CLTA,GNEc.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)
9g.36246447T>CCA373419931CLTA,GNEc.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)
9g.36246447T>GCA373419932CLTA,GNEc.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)
9g.36246448C>ACA373419935CLTA,GNEc.292G>T (p.Asp98Tyr)
c.22G>T (p.Asp8Tyr)
c.199G>T (p.Asp67Tyr)
c.486-16750C>A (n.486-16750C>A)
c.184G>T (p.Asp62Tyr)
9g.36246448C>GCA373419934CLTA,GNEc.292G>C (p.Asp98His)
c.22G>C (p.Asp8His)
c.199G>C (p.Asp67His)
c.486-16750C>G (n.486-16750C>G)
c.184G>C (p.Asp62His)
9g.36246448C>TCA373419933CLTA,GNEc.292G>A (p.Asp98Asn)
c.22G>A (p.Asp8Asn)
c.199G>A (p.Asp67Asn)
c.486-16750C>T (n.486-16750C>T)
c.184G>A (p.Asp62Asn)
9g.36246449A>CCA373419936CLTA,GNEc.291T>G (p.Phe97Leu)
c.21T>G (p.Phe7Leu)
c.198T>G (p.Phe66Leu)
c.486-16749A>C (n.486-16749A>C)
c.183T>G (p.Phe61Leu)
9g.36246449A>GCA464620173CLTA,GNEc.291T>C (p.Phe97=)
c.21T>C (p.Phe7=)
c.198T>C (p.Phe66=)
c.486-16749A>G (n.486-16749A>G)
c.183T>C (p.Phe61=)
9g.36246449A>TCA373419937CLTA,GNEc.291T>A (p.Phe97Leu)
c.21T>A (p.Phe7Leu)
c.198T>A (p.Phe66Leu)
c.486-16749A>T (n.486-16749A>T)
c.183T>A (p.Phe61Leu)
9g.36246450A>CCA373419938CLTA,GNEc.290T>G (p.Phe97Cys)
c.20T>G (p.Phe7Cys)
c.197T>G (p.Phe66Cys)
c.486-16748A>C (n.486-16748A>C)
c.182T>G (p.Phe61Cys)
9g.36246450A>GCA373419939CLTA,GNEc.290T>C (p.Phe97Ser)
c.20T>C (p.Phe7Ser)
c.197T>C (p.Phe66Ser)
c.486-16748A>G (n.486-16748A>G)
c.182T>C (p.Phe61Ser)
9g.36246450A>TCA373419940CLTA,GNEc.290T>A (p.Phe97Tyr)
c.20T>A (p.Phe7Tyr)
c.197T>A (p.Phe66Tyr)
c.486-16748A>T (n.486-16748A>T)
c.182T>A (p.Phe61Tyr)
9g.36246451A=CA1846321159CLTA,GNEc.289T= (p.Phe97=)
c.19T= (p.Phe7=)
c.196T= (p.Phe66=)
c.486-16747A= (n.486-16747A=)
c.181T= (p.Phe61=)
9g.36246451A>CCA373419941CLTA,GNEc.289T>G (p.Phe97Val)
c.19T>G (p.Phe7Val)
c.196T>G (p.Phe66Val)
c.486-16747A>C (n.486-16747A>C)
c.181T>G (p.Phe61Val)
 dbSNP
9g.36246451A>GCA373419942CLTA,GNEc.289T>C (p.Phe97Leu)
c.19T>C (p.Phe7Leu)
c.196T>C (p.Phe66Leu)
c.486-16747A>G (n.486-16747A>G)
c.181T>C (p.Phe61Leu)
9g.36246451A>TCA373419943CLTA,GNEc.289T>A (p.Phe97Ile)
c.19T>A (p.Phe7Ile)
c.196T>A (p.Phe66Ile)
c.486-16747A>T (n.486-16747A>T)
c.181T>A (p.Phe61Ile)
9g.36246452G>ACA464620177CLTA,GNEc.288C>T (p.Asp96=)
c.18C>T (p.Asp6=)
c.195C>T (p.Asp65=)
c.486-16746G>A (n.486-16746G>A)
c.180C>T (p.Asp60=)
9g.36246452G>CCA373419944CLTA,GNEc.288C>G (p.Asp96Glu)
c.18C>G (p.Asp6Glu)
c.195C>G (p.Asp65Glu)
c.486-16746G>C (n.486-16746G>C)
c.180C>G (p.Asp60Glu)
9g.36246452G>TCA373419945CLTA,GNEc.288C>A (p.Asp96Glu)
c.18C>A (p.Asp6Glu)
c.195C>A (p.Asp65Glu)
c.486-16746G>T (n.486-16746G>T)
c.180C>A (p.Asp60Glu)
 gnomAD v4
9g.36246453T>ACA373419946CLTA,GNEc.287A>T (p.Asp96Val)
c.17A>T (p.Asp6Val)
c.194A>T (p.Asp65Val)
c.486-16745T>A (n.486-16745T>A)
c.179A>T (p.Asp60Val)
9g.36246453T>CCA373419947CLTA,GNEc.287A>G (p.Asp96Gly)
c.17A>G (p.Asp6Gly)
c.194A>G (p.Asp65Gly)
c.486-16745T>C (n.486-16745T>C)
c.179A>G (p.Asp60Gly)
 dbSNP
9g.36246453T>GCA373419948CLTA,GNEc.287A>C (p.Asp96Ala)
c.17A>C (p.Asp6Ala)
c.194A>C (p.Asp65Ala)
c.486-16745T>G (n.486-16745T>G)
c.179A>C (p.Asp60Ala)
9g.36246453T=CA1846321166CLTA,GNEc.287A= (p.Asp96=)
c.17A= (p.Asp6=)
c.194A= (p.Asp65=)
c.486-16745T= (n.486-16745T=)
c.179A= (p.Asp60=)
9g.36246454C>ACA373419950CLTA,GNEc.286G>T (p.Asp96Tyr)
c.16G>T (p.Asp6Tyr)
c.193G>T (p.Asp65Tyr)
c.486-16744C>A (n.486-16744C>A)
c.178G>T (p.Asp60Tyr)
9g.36246454C>GCA373419951CLTA,GNEc.286G>C (p.Asp96His)
c.16G>C (p.Asp6His)
c.193G>C (p.Asp65His)
c.486-16744C>G (n.486-16744C>G)
c.178G>C (p.Asp60His)
9g.36246454C>TCA373419949CLTA,GNEc.286G>A (p.Asp96Asn)
c.16G>A (p.Asp6Asn)
c.193G>A (p.Asp65Asn)
c.486-16744C>T (n.486-16744C>T)
c.178G>A (p.Asp60Asn)
9g.36246455A>CCA373419952CLTA,GNEc.285T>G (p.Asp95Glu)
c.15T>G (p.Asp5Glu)
c.192T>G (p.Asp64Glu)
c.486-16743A>C (n.486-16743A>C)
c.177T>G (p.Asp59Glu)
9g.36246455A>GCA464620182CLTA,GNEc.285T>C (p.Asp95=)
c.15T>C (p.Asp5=)
c.192T>C (p.Asp64=)
c.486-16743A>G (n.486-16743A>G)
c.177T>C (p.Asp59=)
 ClinVar dbSNP gnomAD v4
9g.36246455A>TCA373419953CLTA,GNEc.285T>A (p.Asp95Glu)
c.15T>A (p.Asp5Glu)
c.192T>A (p.Asp64Glu)
c.486-16743A>T (n.486-16743A>T)
c.177T>A (p.Asp59Glu)
9g.36246456T>ACA373419954CLTA,GNEc.284A>T (p.Asp95Val)
c.14A>T (p.Asp5Val)
c.191A>T (p.Asp64Val)
c.486-16742T>A (n.486-16742T>A)
c.176A>T (p.Asp59Val)
9g.36246456T>CCA373419955CLTA,GNEc.284A>G (p.Asp95Gly)
c.14A>G (p.Asp5Gly)
c.191A>G (p.Asp64Gly)
c.486-16742T>C (n.486-16742T>C)
c.176A>G (p.Asp59Gly)
9g.36246456T>GCA373419956CLTA,GNEc.284A>C (p.Asp95Ala)
c.14A>C (p.Asp5Ala)
c.191A>C (p.Asp64Ala)
c.486-16742T>G (n.486-16742T>G)
c.176A>C (p.Asp59Ala)
9g.36246457C>ACA373419959CLTA,GNEc.283G>T (p.Asp95Tyr)
c.13G>T (p.Asp5Tyr)
c.190G>T (p.Asp64Tyr)
c.486-16741C>A (n.486-16741C>A)
c.175G>T (p.Asp59Tyr)
9g.36246457C>GCA373419958CLTA,GNEc.283G>C (p.Asp95His)
c.13G>C (p.Asp5His)
c.190G>C (p.Asp64His)
c.486-16741C>G (n.486-16741C>G)
c.175G>C (p.Asp59His)
 ClinVar dbSNP
9g.36246457C>TCA373419957CLTA,GNEc.283G>A (p.Asp95Asn)
c.13G>A (p.Asp5Asn)
c.190G>A (p.Asp64Asn)
c.486-16741C>T (n.486-16741C>T)
c.175G>A (p.Asp59Asn)
9g.36246457_36246458delinsCTCA1846321171CLTA,GNEc.282_283delinsAG (p.Gln94=)
c.12_13delinsAG (p.Gln4=)
c.189_190delinsAG (p.Gln63=)
c.486-16741_486-16740delinsCT (n.486-16741_486-16740delinsCT)
c.174_175delinsAG (p.Gln58=)
9g.36246458T>ACA373419960CLTA,GNEc.282A>T (p.Gln94His)
c.12A>T (p.Gln4His)
c.189A>T (p.Gln63His)
c.486-16740T>A (n.486-16740T>A)
c.174A>T (p.Gln58His)
9g.36246458T>CCA5056748CLTA,GNEc.282A>G (p.Gln94=)
c.12A>G (p.Gln4=)
c.189A>G (p.Gln63=)
c.486-16740T>C (n.486-16740T>C)
c.174A>G (p.Gln58=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246458T>GCA373419961CLTA,GNEc.282A>C (p.Gln94His)
c.12A>C (p.Gln4His)
c.189A>C (p.Gln63His)
c.486-16740T>G (n.486-16740T>G)
c.174A>C (p.Gln58His)
9g.36246458T=CA1846321179CLTA,GNEc.282A= (p.Gln94=)
c.12A= (p.Gln4=)
c.189A= (p.Gln63=)
c.486-16740T= (n.486-16740T=)
c.174A= (p.Gln58=)
9g.36246459delCA588147231CLTA,GNEc.282del (p.Asp95MetfsTer13)
c.12del (p.Asp5MetfsTer13)
c.189del (p.Asp64MetfsTer13)
c.486-16739del (n.486-16739del)
c.174del (p.Asp59MetfsTer13)
 dbSNP gnomAD v2 gnomAD v4
9g.36246459T>ACA373419962CLTA,GNEc.281A>T (p.Gln94Leu)
c.11A>T (p.Gln4Leu)
c.188A>T (p.Gln63Leu)
c.486-16739T>A (n.486-16739T>A)
c.173A>T (p.Gln58Leu)
9g.36246459T>CCA373419963CLTA,GNEc.281A>G (p.Gln94Arg)
c.11A>G (p.Gln4Arg)
c.188A>G (p.Gln63Arg)
c.486-16739T>C (n.486-16739T>C)
c.173A>G (p.Gln58Arg)
9g.36246459T>GCA373419964CLTA,GNEc.281A>C (p.Gln94Pro)
c.11A>C (p.Gln4Pro)
c.188A>C (p.Gln63Pro)
c.486-16739T>G (n.486-16739T>G)
c.173A>C (p.Gln58Pro)
9g.36246460G>ACA373419965CLTA,GNEc.280C>T (p.Gln94Ter)
c.10C>T (p.Gln4Ter)
c.187C>T (p.Gln63Ter)
c.486-16738G>A (n.486-16738G>A)
c.172C>T (p.Gln58Ter)
 COSMIC COSMIC COSMIC
9g.36246460G>CCA373419967CLTA,GNEc.280C>G (p.Gln94Glu)
c.10C>G (p.Gln4Glu)
c.187C>G (p.Gln63Glu)
c.486-16738G>C (n.486-16738G>C)
c.172C>G (p.Gln58Glu)
9g.36246460G>TCA373419966CLTA,GNEc.280C>A (p.Gln94Lys)
c.10C>A (p.Gln4Lys)
c.187C>A (p.Gln63Lys)
c.486-16738G>T (n.486-16738G>T)
c.172C>A (p.Gln58Lys)
9g.36246461T>ACA373419968CLTA,GNEc.279A>T (p.Glu93Asp)
c.9A>T (p.Glu3Asp)
c.186A>T (p.Glu62Asp)
c.486-16737T>A (n.486-16737T>A)
c.171A>T (p.Glu57Asp)
9g.36246461T>CCA464620191CLTA,GNEc.279A>G (p.Glu93=)
c.9A>G (p.Glu3=)
c.186A>G (p.Glu62=)
c.486-16737T>C (n.486-16737T>C)
c.171A>G (p.Glu57=)
9g.36246461T>GCA373419969CLTA,GNEc.279A>C (p.Glu93Asp)
c.9A>C (p.Glu3Asp)
c.186A>C (p.Glu62Asp)
c.486-16737T>G (n.486-16737T>G)
c.171A>C (p.Glu57Asp)
9g.36246461_36246465delinsTTCAACA1846321186CLTA,GNEc.275_279delinsTTGAA (p.Ile92=)
c.5_9delinsTTGAA (p.Ile2=)
c.182_186delinsTTGAA (p.Ile61=)
c.486-16737_486-16733delinsTTCAA (n.486-16737_486-16733delinsTTCAA)
c.167_171delinsTTGAA (p.Ile56=)
9g.36246462T>ACA373419970CLTA,GNEc.278A>T (p.Glu93Val)
c.8A>T (p.Glu3Val)
c.185A>T (p.Glu62Val)
c.486-16736T>A (n.486-16736T>A)
c.170A>T (p.Glu57Val)
9g.36246462T>CCA373419971CLTA,GNEc.278A>G (p.Glu93Gly)
c.8A>G (p.Glu3Gly)
c.185A>G (p.Glu62Gly)
c.486-16736T>C (n.486-16736T>C)
c.170A>G (p.Glu57Gly)
9g.36246462T>GCA373419972CLTA,GNEc.278A>C (p.Glu93Ala)
c.8A>C (p.Glu3Ala)
c.185A>C (p.Glu62Ala)
c.486-16736T>G (n.486-16736T>G)
c.170A>C (p.Glu57Ala)
 ClinVar dbSNP
9g.36246465_36246468delCA588147232CLTA,GNEc.275_278del (p.Ile92AsnfsTer15)
c.5_8del (p.Ile2AsnfsTer15)
c.182_185del (p.Ile61AsnfsTer15)
c.486-16733_486-16730del (n.486-16733_486-16730del)
c.167_170del (p.Ile56AsnfsTer15)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246463C>ACA373419973CLTA,GNEc.277G>T (p.Glu93Ter)
c.7G>T (p.Glu3Ter)
c.184G>T (p.Glu62Ter)
c.486-16735C>A (n.486-16735C>A)
c.169G>T (p.Glu57Ter)
9g.36246463C>GCA373419974CLTA,GNEc.277G>C (p.Glu93Gln)
c.7G>C (p.Glu3Gln)
c.184G>C (p.Glu62Gln)
c.486-16735C>G (n.486-16735C>G)
c.169G>C (p.Glu57Gln)
9g.36246463C>TCA373419975CLTA,GNEc.277G>A (p.Glu93Lys)
c.7G>A (p.Glu3Lys)
c.184G>A (p.Glu62Lys)
c.486-16735C>T (n.486-16735C>T)
c.169G>A (p.Glu57Lys)
9g.36246464A>CCA373419976CLTA,GNEc.276T>G (p.Ile92Met)
c.6T>G (p.Ile2Met)
c.183T>G (p.Ile61Met)
c.486-16734A>C (n.486-16734A>C)
c.168T>G (p.Ile56Met)
9g.36246464A>GCA464620193CLTA,GNEc.276T>C (p.Ile92=)
c.6T>C (p.Ile2=)
c.183T>C (p.Ile61=)
c.486-16734A>G (n.486-16734A>G)
c.168T>C (p.Ile56=)
9g.36246464A>TCA464620194CLTA,GNEc.276T>A (p.Ile92=)
c.6T>A (p.Ile2=)
c.183T>A (p.Ile61=)
c.486-16734A>T (n.486-16734A>T)
c.168T>A (p.Ile56=)
9g.36246465A=CA1846321191CLTA,GNEc.275T= (p.Ile92=)
c.5T= (p.Ile2=)
c.182T= (p.Ile61=)
c.486-16733A= (n.486-16733A=)
c.167T= (p.Ile56=)
9g.36246465A>CCA373419977CLTA,GNEc.275T>G (p.Ile92Ser)
c.5T>G (p.Ile2Ser)
c.182T>G (p.Ile61Ser)
c.486-16733A>C (n.486-16733A>C)
c.167T>G (p.Ile56Ser)
9g.36246465A>GCA373419978CLTA,GNEc.275T>C (p.Ile92Thr)
c.5T>C (p.Ile2Thr)
c.182T>C (p.Ile61Thr)
c.486-16733A>G (n.486-16733A>G)
c.167T>C (p.Ile56Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246465A>TCA373419979CLTA,GNEc.275T>A (p.Ile92Asn)
c.5T>A (p.Ile2Asn)
c.182T>A (p.Ile61Asn)
c.486-16733A>T (n.486-16733A>T)
c.167T>A (p.Ile56Asn)
9g.36246466T>ACA373419982CLTA,GNEc.274A>T (p.Ile92Phe)
c.4A>T (p.Ile2Phe)
c.181A>T (p.Ile61Phe)
c.486-16732T>A (n.486-16732T>A)
c.166A>T (p.Ile56Phe)
9g.36246466T>CCA373419981CLTA,GNEc.274A>G (p.Ile92Val)
c.4A>G (p.Ile2Val)
c.181A>G (p.Ile61Val)
c.486-16732T>C (n.486-16732T>C)
c.166A>G (p.Ile56Val)
9g.36246466T>GCA373419980CLTA,GNEc.274A>C (p.Ile92Leu)
c.4A>C (p.Ile2Leu)
c.181A>C (p.Ile61Leu)
c.486-16732T>G (n.486-16732T>G)
c.166A>C (p.Ile56Leu)
9g.36246467C>ACA373419983CLTA,GNEc.273G>T (p.Met91Ile)
c.3G>T (p.Met1Ile)
c.180G>T (p.Met60Ile)
c.486-16731C>A (n.486-16731C>A)
c.165G>T (p.Met55Ile)
9g.36246467C>GCA373419985CLTA,GNEc.273G>C (p.Met91Ile)
c.3G>C (p.Met1Ile)
c.180G>C (p.Met60Ile)
c.486-16731C>G (n.486-16731C>G)
c.165G>C (p.Met55Ile)
9g.36246467C>TCA373419984CLTA,GNEc.273G>A (p.Met91Ile)
c.3G>A (p.Met1Ile)
c.180G>A (p.Met60Ile)
c.486-16731C>T (n.486-16731C>T)
c.165G>A (p.Met55Ile)
 gnomAD v4
9g.36246468A>CCA373419986CLTA,GNEc.272T>G (p.Met91Arg)
c.2T>G (p.Met1Arg)
c.179T>G (p.Met60Arg)
c.486-16730A>C (n.486-16730A>C)
c.164T>G (p.Met55Arg)
9g.36246468A>GCA373419988CLTA,GNEc.272T>C (p.Met91Thr)
c.2T>C (p.Met1Thr)
c.179T>C (p.Met60Thr)
c.486-16730A>G (n.486-16730A>G)
c.164T>C (p.Met55Thr)
9g.36246468A>TCA373419987CLTA,GNEc.272T>A (p.Met91Lys)
c.2T>A (p.Met1Lys)
c.179T>A (p.Met60Lys)
c.486-16730A>T (n.486-16730A>T)
c.164T>A (p.Met55Lys)
9g.36246469T>ACA373419989CLTA,GNEc.271A>T (p.Met91Leu)
c.1A>T (p.Met1Leu)
c.178A>T (p.Met60Leu)
c.486-16729T>A (n.486-16729T>A)
c.163A>T (p.Met55Leu)
9g.36246469T>CCA5056749CLTA,GNEc.271A>G (p.Met91Val)
c.1A>G (p.Met1Val)
c.178A>G (p.Met60Val)
c.486-16729T>C (n.486-16729T>C)
c.163A>G (p.Met55Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246469T>GCA5056750CLTA,GNEc.271A>C (p.Met91Leu)
c.1A>C (p.Met1Leu)
c.178A>C (p.Met60Leu)
c.486-16729T>G (n.486-16729T>G)
c.163A>C (p.Met55Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246469T=CA1846321196CLTA,GNEc.271A= (p.Met91=)
c.1A= (p.Met1=)
c.178A= (p.Met60=)
c.486-16729T= (n.486-16729T=)
c.163A= (p.Met55=)
9g.36246470T>ACA464620197CLTA,GNEc.270A>T (p.Arg90=)
c.-1A>T (n.-1A>T)
c.177A>T (p.Arg59=)
c.486-16728T>A (n.486-16728T>A)
c.162A>T (p.Arg54=)
9g.36246470T>CCA464620198CLTA,GNEc.270A>G (p.Arg90=)
c.-1A>G (n.-1A>G)
c.177A>G (p.Arg59=)
c.486-16728T>C (n.486-16728T>C)
c.162A>G (p.Arg54=)
9g.36246470T>GCA464620199CLTA,GNEc.270A>C (p.Arg90=)
c.-1A>C (n.-1A>C)
c.177A>C (p.Arg59=)
c.486-16728T>G (n.486-16728T>G)
c.162A>C (p.Arg54=)
9g.36246471_36246474dupCA2573144547CLTA,GNEc.267_270dup (p.Met91SerfsTer4)
c.-4_-1dup (p.Met1SerfsTer4)
c.174_177dup (p.Met60SerfsTer4)
c.486-16727_486-16724dup (n.486-16727_486-16724dup)
c.159_162dup (p.Met55SerfsTer4)
 ClinVar dbSNP
9g.36246471C>ACA373419990CLTA,GNEc.269G>T (p.Arg90Leu)
c.-2G>T (n.-2G>T)
c.176G>T (p.Arg59Leu)
c.486-16727C>A (n.486-16727C>A)
c.161G>T (p.Arg54Leu)
9g.36246471C=CA1846321199CLTA,GNEc.269G= (p.Arg90=)
c.-2G= (n.-2G=)
c.176G= (p.Arg59=)
c.486-16727C= (n.486-16727C=)
c.161G= (p.Arg54=)
9g.36246471C>GCA373419991CLTA,GNEc.269G>C (p.Arg90Pro)
c.-2G>C (n.-2G>C)
c.176G>C (p.Arg59Pro)
c.486-16727C>G (n.486-16727C>G)
c.161G>C (p.Arg54Pro)
 dbSNP
9g.36246471C>TCA373419992CLTA,GNEc.269G>A (p.Arg90Gln)
c.-2G>A (n.-2G>A)
c.176G>A (p.Arg59Gln)
c.486-16727C>T (n.486-16727C>T)
c.161G>A (p.Arg54Gln)
 ClinVar dbSNP gnomAD v4
9g.36246472G>ACA5056751CLTA,GNEc.268C>T (p.Arg90Ter)
c.-3C>T (n.-3C>T)
c.175C>T (p.Arg59Ter)
c.486-16726G>A (n.486-16726G>A)
c.160C>T (p.Arg54Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246472G>CCA373419993CLTA,GNEc.268C>G (p.Arg90Gly)
c.-3C>G (n.-3C>G)
c.175C>G (p.Arg59Gly)
c.486-16726G>C (n.486-16726G>C)
c.160C>G (p.Arg54Gly)
9g.36246472G=CA1846321203CLTA,GNEc.268C= (p.Arg90=)
c.-3C= (n.-3C=)
c.175C= (p.Arg59=)
c.486-16726G= (n.486-16726G=)
c.160C= (p.Arg54=)
9g.36246472G>TCA464620201CLTA,GNEc.268C>A (p.Arg90=)
c.-3C>A (n.-3C>A)
c.175C>A (p.Arg59=)
c.486-16726G>T (n.486-16726G>T)
c.160C>A (p.Arg54=)
 ClinVar
9g.36246473A>CCA373419994CLTA,GNEc.267T>G (p.Tyr89Ter)
c.-4T>G (n.-4T>G)
c.174T>G (p.Tyr58Ter)
c.486-16725A>C (n.486-16725A>C)
c.159T>G (p.Tyr53Ter)
9g.36246473A>GCA464620202CLTA,GNEc.267T>C (p.Tyr89=)
c.-4T>C (n.-4T>C)
c.174T>C (p.Tyr58=)
c.486-16725A>G (n.486-16725A>G)
c.159T>C (p.Tyr53=)
 gnomAD v4
9g.36246473A>TCA373419995CLTA,GNEc.267T>A (p.Tyr89Ter)
c.-4T>A (n.-4T>A)
c.174T>A (p.Tyr58Ter)
c.486-16725A>T (n.486-16725A>T)
c.159T>A (p.Tyr53Ter)
9g.36246474T>ACA373419998CLTA,GNEc.266A>T (p.Tyr89Phe)
c.-5A>T (n.-5A>T)
c.173A>T (p.Tyr58Phe)
c.486-16724T>A (n.486-16724T>A)
c.158A>T (p.Tyr53Phe)
9g.36246474T>CCA373419997CLTA,GNEc.266A>G (p.Tyr89Cys)
c.-5A>G (n.-5A>G)
c.173A>G (p.Tyr58Cys)
c.486-16724T>C (n.486-16724T>C)
c.158A>G (p.Tyr53Cys)
9g.36246474T>GCA373419996CLTA,GNEc.266A>C (p.Tyr89Ser)
c.-5A>C (n.-5A>C)
c.173A>C (p.Tyr58Ser)
c.486-16724T>G (n.486-16724T>G)
c.158A>C (p.Tyr53Ser)
9g.36246475A=CA1846321211CLTA,GNEc.265T= (p.Tyr89=)
c.-6T= (n.-6T=)
c.172T= (p.Tyr58=)
c.486-16723A= (n.486-16723A=)
c.157T= (p.Tyr53=)
9g.36246475A>CCA373419999CLTA,GNEc.265T>G (p.Tyr89Asp)
c.-6T>G (n.-6T>G)
c.172T>G (p.Tyr58Asp)
c.486-16723A>C (n.486-16723A>C)
c.157T>G (p.Tyr53Asp)
9g.36246475A>GCA373420000CLTA,GNEc.265T>C (p.Tyr89His)
c.-6T>C (n.-6T>C)
c.172T>C (p.Tyr58His)
c.486-16723A>G (n.486-16723A>G)
c.157T>C (p.Tyr53His)
 ClinVar dbSNP gnomAD v4
9g.36246475A>TCA373420001CLTA,GNEc.265T>A (p.Tyr89Asn)
c.-6T>A (n.-6T>A)
c.172T>A (p.Tyr58Asn)
c.486-16723A>T (n.486-16723A>T)
c.157T>A (p.Tyr53Asn)
9g.36246476T>ACA464620204CLTA,GNEc.264A>T (p.Thr88=)
c.-7A>T (n.-7A>T)
c.171A>T (p.Thr57=)
c.486-16722T>A (n.486-16722T>A)
c.156A>T (p.Thr52=)
 dbSNP
9g.36246476T>CCA192828468CLTA,GNEc.264A>G (p.Thr88=)
c.-7A>G (n.-7A>G)
c.171A>G (p.Thr57=)
c.486-16722T>C (n.486-16722T>C)
c.156A>G (p.Thr52=)
 ClinVar dbSNP gnomAD v4
9g.36246476T>GCA464620205CLTA,GNEc.264A>C (p.Thr88=)
c.-7A>C (n.-7A>C)
c.171A>C (p.Thr57=)
c.486-16722T>G (n.486-16722T>G)
c.156A>C (p.Thr52=)
9g.36246476T=CA1846321216CLTA,GNEc.264A= (p.Thr88=)
c.-7A= (n.-7A=)
c.171A= (p.Thr57=)
c.486-16722T= (n.486-16722T=)
c.156A= (p.Thr52=)

Number of alleles fetched