Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122119472G>ACA2569363CD86c.928G>A (p.Ala310Thr)
c.766G>A (p.Ala256Thr)
c.910G>A (p.Ala304Thr)
c.682G>A (p.Ala228Thr)
c.770G>A
c.592G>A (p.Ala198Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122119472G>CCA354163844CD86c.928G>C (p.Ala310Pro)
c.766G>C (p.Ala256Pro)
c.910G>C (p.Ala304Pro)
c.682G>C (p.Ala228Pro)
c.770G>C
c.592G>C (p.Ala198Pro)
dbSNP
3g.122119472G=CA1397810679CD86c.928G= (p.Ala310=)
c.766G= (p.Ala256=)
c.910G= (p.Ala304=)
c.682G= (p.Ala228=)
c.770G=
c.592G= (p.Ala198=)
3g.122119472G>TCA354163845CD86c.928G>T (p.Ala310Ser)
c.766G>T (p.Ala256Ser)
c.910G>T (p.Ala304Ser)
c.682G>T (p.Ala228Ser)
c.770G>T
c.592G>T (p.Ala198Ser)
3g.122119473C>ACA354163846CD86c.929C>A (p.Ala310Asp)
c.767C>A (p.Ala256Asp)
c.911C>A (p.Ala304Asp)
c.683C>A (p.Ala228Asp)
c.771C>A
c.593C>A (p.Ala198Asp)
gnomAD v4
3g.122119473C>GCA354163847CD86c.929C>G (p.Ala310Gly)
c.767C>G (p.Ala256Gly)
c.911C>G (p.Ala304Gly)
c.683C>G (p.Ala228Gly)
c.771C>G
c.593C>G (p.Ala198Gly)
gnomAD v4
3g.122119473C>TCA354163848CD86c.929C>T (p.Ala310Val)
c.767C>T (p.Ala256Val)
c.911C>T (p.Ala304Val)
c.683C>T (p.Ala228Val)
c.771C>T
c.593C>T (p.Ala198Val)
3g.122119474C>ACA435252269CD86c.930C>A (p.Ala310=)
c.768C>A (p.Ala256=)
c.912C>A (p.Ala304=)
c.684C>A (p.Ala228=)
c.772C>A
c.594C>A (p.Ala198=)
gnomAD v4
3g.122119474C>GCA435252270CD86c.930C>G (p.Ala310=)
c.768C>G (p.Ala256=)
c.912C>G (p.Ala304=)
c.684C>G (p.Ala228=)
c.772C>G
c.594C>G (p.Ala198=)
3g.122119474C>TCA435252271CD86c.930C>T (p.Ala310=)
c.768C>T (p.Ala256=)
c.912C>T (p.Ala304=)
c.684C>T (p.Ala228=)
c.772C>T
c.594C>T (p.Ala198=)
3g.122119475C>ACA354163849CD86c.931C>A (p.Gln311Lys)
c.769C>A (p.Gln257Lys)
c.913C>A (p.Gln305Lys)
c.685C>A (p.Gln229Lys)
c.773C>A
c.595C>A (p.Gln199Lys)
3g.122119475C=CA1397810682CD86c.931C= (p.Gln311=)
c.769C= (p.Gln257=)
c.913C= (p.Gln305=)
c.685C= (p.Gln229=)
c.773C=
c.595C= (p.Gln199=)
3g.122119475C>GCA2569364CD86c.931C>G (p.Gln311Glu)
c.769C>G (p.Gln257Glu)
c.913C>G (p.Gln305Glu)
c.685C>G (p.Gln229Glu)
c.773C>G
c.595C>G (p.Gln199Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122119475C>TCA354163850CD86c.931C>T (p.Gln311Ter)
c.769C>T (p.Gln257Ter)
c.913C>T (p.Gln305Ter)
c.685C>T (p.Gln229Ter)
c.773C>T
c.595C>T (p.Gln199Ter)
3g.122119476A>CCA354163851CD86c.932A>C (p.Gln311Pro)
c.770A>C (p.Gln257Pro)
c.914A>C (p.Gln305Pro)
c.686A>C (p.Gln229Pro)
c.774A>C
c.596A>C (p.Gln199Pro)
3g.122119476A>GCA354163852CD86c.932A>G (p.Gln311Arg)
c.770A>G (p.Gln257Arg)
c.914A>G (p.Gln305Arg)
c.686A>G (p.Gln229Arg)
c.774A>G
c.596A>G (p.Gln199Arg)
3g.122119476A>TCA354163853CD86c.932A>T (p.Gln311Leu)
c.770A>T (p.Gln257Leu)
c.914A>T (p.Gln305Leu)
c.686A>T (p.Gln229Leu)
c.774A>T
c.596A>T (p.Gln199Leu)
gnomAD v4
3g.122119477G>ACA435252272CD86c.933G>A (p.Gln311=)
c.771G>A (p.Gln257=)
c.915G>A (p.Gln305=)
c.687G>A (p.Gln229=)
c.775G>A
c.597G>A (p.Gln199=)
gnomAD v4
3g.122119477G>CCA354163854CD86c.933G>C (p.Gln311His)
c.771G>C (p.Gln257His)
c.915G>C (p.Gln305His)
c.687G>C (p.Gln229His)
c.775G>C
c.597G>C (p.Gln199His)
3g.122119477G>TCA354163855CD86c.933G>T (p.Gln311His)
c.771G>T (p.Gln257His)
c.915G>T (p.Gln305His)
c.687G>T (p.Gln229His)
c.775G>T
c.597G>T (p.Gln199His)
3g.122119478C>ACA2569366CD86c.934C>A (p.Arg312Ser)
c.772C>A (p.Arg258Ser)
c.916C>A (p.Arg306Ser)
c.688C>A (p.Arg230Ser)
c.776C>A
c.598C>A (p.Arg200Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122119478C=CA1397810687CD86c.934C= (p.Arg312=)
c.772C= (p.Arg258=)
c.916C= (p.Arg306=)
c.688C= (p.Arg230=)
c.776C=
c.598C= (p.Arg200=)
3g.122119478C>GCA354163856CD86c.934C>G (p.Arg312Gly)
c.772C>G (p.Arg258Gly)
c.916C>G (p.Arg306Gly)
c.688C>G (p.Arg230Gly)
c.776C>G
c.598C>G (p.Arg200Gly)
3g.122119478C>TCA2569365CD86c.934C>T (p.Arg312Cys)
c.772C>T (p.Arg258Cys)
c.916C>T (p.Arg306Cys)
c.688C>T (p.Arg230Cys)
c.776C>T
c.598C>T (p.Arg200Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122119479G>ACA2569367CD86c.935G>A (p.Arg312His)
c.773G>A (p.Arg258His)
c.917G>A (p.Arg306His)
c.689G>A (p.Arg230His)
c.777G>A
c.599G>A (p.Arg200His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122119479G>CCA354163857CD86c.935G>C (p.Arg312Pro)
c.773G>C (p.Arg258Pro)
c.917G>C (p.Arg306Pro)
c.689G>C (p.Arg230Pro)
c.777G>C
c.599G>C (p.Arg200Pro)
gnomAD v4
3g.122119479G=CA1397810692CD86c.935G= (p.Arg312=)
c.773G= (p.Arg258=)
c.917G= (p.Arg306=)
c.689G= (p.Arg230=)
c.777G=
c.599G= (p.Arg200=)
3g.122119479G>TCA354163858CD86c.935G>T (p.Arg312Leu)
c.773G>T (p.Arg258Leu)
c.917G>T (p.Arg306Leu)
c.689G>T (p.Arg230Leu)
c.777G>T
c.599G>T (p.Arg200Leu)
3g.122119481_122119482delCA2667228389CD86c.937_938del (p.Val313PhefsTer2)
c.775_776del (p.Val259PhefsTer2)
c.919_920del (p.Val307PhefsTer2)
c.691_692del (p.Val231PhefsTer2)
c.779_780del
c.601_602del (p.Val201PhefsTer2)
gnomAD v4
3g.122119480T>ACA435252273CD86c.936T>A (p.Arg312=)
c.774T>A (p.Arg258=)
c.918T>A (p.Arg306=)
c.690T>A (p.Arg230=)
c.778T>A
c.600T>A (p.Arg200=)
dbSNP gnomAD v3 gnomAD v4
3g.122119480T>CCA435252274CD86c.936T>C (p.Arg312=)
c.774T>C (p.Arg258=)
c.918T>C (p.Arg306=)
c.690T>C (p.Arg230=)
c.778T>C
c.600T>C (p.Arg200=)
3g.122119480T>GCA435252275CD86c.936T>G (p.Arg312=)
c.774T>G (p.Arg258=)
c.918T>G (p.Arg306=)
c.690T>G (p.Arg230=)
c.778T>G
c.600T>G (p.Arg200=)
3g.122119480T=CA1397810694CD86c.936T= (p.Arg312=)
c.774T= (p.Arg258=)
c.918T= (p.Arg306=)
c.690T= (p.Arg230=)
c.778T=
c.600T= (p.Arg200=)
3g.122119481G>ACA354163860CD86c.937G>A (p.Val313Ile)
c.775G>A (p.Val259Ile)
c.919G>A (p.Val307Ile)
c.691G>A (p.Val231Ile)
c.779G>A
c.601G>A (p.Val201Ile)
dbSNP gnomAD v3 gnomAD v4
3g.122119481G>CCA354163861CD86c.937G>C (p.Val313Leu)
c.775G>C (p.Val259Leu)
c.919G>C (p.Val307Leu)
c.691G>C (p.Val231Leu)
c.779G>C
c.601G>C (p.Val201Leu)
3g.122119481G=CA1397810695CD86c.937G= (p.Val313=)
c.775G= (p.Val259=)
c.919G= (p.Val307=)
c.691G= (p.Val231=)
c.779G=
c.601G= (p.Val201=)
3g.122119481G>TCA354163859CD86c.937G>T (p.Val313Phe)
c.775G>T (p.Val259Phe)
c.919G>T (p.Val307Phe)
c.691G>T (p.Val231Phe)
c.779G>T
c.601G>T (p.Val201Phe)
3g.122119482T>ACA354163863CD86c.938T>A (p.Val313Asp)
c.776T>A (p.Val259Asp)
c.920T>A (p.Val307Asp)
c.692T>A (p.Val231Asp)
c.780T>A
c.602T>A (p.Val201Asp)
3g.122119482T>CCA354163862CD86c.938T>C (p.Val313Ala)
c.776T>C (p.Val259Ala)
c.920T>C (p.Val307Ala)
c.692T>C (p.Val231Ala)
c.780T>C
c.602T>C (p.Val201Ala)
3g.122119482T>GCA354163864CD86c.938T>G (p.Val313Gly)
c.776T>G (p.Val259Gly)
c.920T>G (p.Val307Gly)
c.692T>G (p.Val231Gly)
c.780T>G
c.602T>G (p.Val201Gly)
3g.122119483T>ACA435252276CD86c.939T>A (p.Val313=)
c.777T>A (p.Val259=)
c.921T>A (p.Val307=)
c.693T>A (p.Val231=)
c.781T>A
c.603T>A (p.Val201=)
3g.122119483T>CCA435252277CD86c.939T>C (p.Val313=)
c.777T>C (p.Val259=)
c.921T>C (p.Val307=)
c.693T>C (p.Val231=)
c.781T>C
c.603T>C (p.Val201=)
3g.122119483T>GCA435252278CD86c.939T>G (p.Val313=)
c.777T>G (p.Val259=)
c.921T>G (p.Val307=)
c.693T>G (p.Val231=)
c.781T>G
c.603T>G (p.Val201=)
3g.122119484T>ACA354163865CD86c.940T>A (p.Phe314Ile)
c.778T>A (p.Phe260Ile)
c.922T>A (p.Phe308Ile)
c.694T>A (p.Phe232Ile)
c.782T>A
c.604T>A (p.Phe202Ile)
COSMIC
3g.122119484T>CCA354163867CD86c.940T>C (p.Phe314Leu)
c.778T>C (p.Phe260Leu)
c.922T>C (p.Phe308Leu)
c.694T>C (p.Phe232Leu)
c.782T>C
c.604T>C (p.Phe202Leu)
3g.122119484T>GCA354163866CD86c.940T>G (p.Phe314Val)
c.778T>G (p.Phe260Val)
c.922T>G (p.Phe308Val)
c.694T>G (p.Phe232Val)
c.782T>G
c.604T>G (p.Phe202Val)
3g.122119485T>ACA354163868CD86c.941T>A (p.Phe314Tyr)
c.779T>A (p.Phe260Tyr)
c.923T>A (p.Phe308Tyr)
c.695T>A (p.Phe232Tyr)
c.783T>A
c.605T>A (p.Phe202Tyr)
3g.122119485T>CCA354163870CD86c.941T>C (p.Phe314Ser)
c.779T>C (p.Phe260Ser)
c.923T>C (p.Phe308Ser)
c.695T>C (p.Phe232Ser)
c.783T>C
c.605T>C (p.Phe202Ser)
3g.122119485T>GCA354163869CD86c.941T>G (p.Phe314Cys)
c.779T>G (p.Phe260Cys)
c.923T>G (p.Phe308Cys)
c.695T>G (p.Phe232Cys)
c.783T>G
c.605T>G (p.Phe202Cys)
3g.122119486T>ACA354163871CD86c.942T>A (p.Phe314Leu)
c.780T>A (p.Phe260Leu)
c.924T>A (p.Phe308Leu)
c.696T>A (p.Phe232Leu)
c.784T>A
c.606T>A (p.Phe202Leu)
3g.122119486T>CCA82750723CD86c.942T>C (p.Phe314=)
c.780T>C (p.Phe260=)
c.924T>C (p.Phe308=)
c.696T>C (p.Phe232=)
c.784T>C
c.606T>C (p.Phe202=)
dbSNP
3g.122119486T>GCA354163872CD86c.942T>G (p.Phe314Leu)
c.780T>G (p.Phe260Leu)
c.924T>G (p.Phe308Leu)
c.696T>G (p.Phe232Leu)
c.784T>G
c.606T>G (p.Phe202Leu)
3g.122119486T=CA1397810699CD86c.942T= (p.Phe314=)
c.780T= (p.Phe260=)
c.924T= (p.Phe308=)
c.696T= (p.Phe232=)
c.784T=
c.606T= (p.Phe202=)
3g.122119487A>CCA354163873CD86c.943A>C (p.Lys315Gln)
c.781A>C (p.Lys261Gln)
c.925A>C (p.Lys309Gln)
c.697A>C (p.Lys233Gln)
c.785A>C
c.607A>C (p.Lys203Gln)
3g.122119487A>GCA354163874CD86c.943A>G (p.Lys315Glu)
c.781A>G (p.Lys261Glu)
c.925A>G (p.Lys309Glu)
c.697A>G (p.Lys233Glu)
c.785A>G
c.607A>G (p.Lys203Glu)
gnomAD v4 COSMIC
3g.122119487A>TCA354163875CD86c.943A>T (p.Lys315Ter)
c.781A>T (p.Lys261Ter)
c.925A>T (p.Lys309Ter)
c.697A>T (p.Lys233Ter)
c.785A>T
c.607A>T (p.Lys203Ter)
3g.122119488A=CA1397810702CD86c.944A= (p.Lys315=)
c.782A= (p.Lys261=)
c.926A= (p.Lys309=)
c.698A= (p.Lys233=)
c.786A=
c.608A= (p.Lys203=)
3g.122119488A>CCA354163876CD86c.944A>C (p.Lys315Thr)
c.782A>C (p.Lys261Thr)
c.926A>C (p.Lys309Thr)
c.698A>C (p.Lys233Thr)
c.786A>C
c.608A>C (p.Lys203Thr)
3g.122119488A>GCA354163877CD86c.944A>G (p.Lys315Arg)
c.782A>G (p.Lys261Arg)
c.926A>G (p.Lys309Arg)
c.698A>G (p.Lys233Arg)
c.786A>G
c.608A>G (p.Lys203Arg)
dbSNP gnomAD v2 gnomAD v4
3g.122119488A>TCA354163878CD86c.944A>T (p.Lys315Ile)
c.782A>T (p.Lys261Ile)
c.926A>T (p.Lys309Ile)
c.698A>T (p.Lys233Ile)
c.786A>T
c.608A>T (p.Lys203Ile)
3g.122119489A>CCA354163879CD86c.945A>C (p.Lys315Asn)
c.783A>C (p.Lys261Asn)
c.927A>C (p.Lys309Asn)
c.699A>C (p.Lys233Asn)
c.787A>C
c.609A>C (p.Lys203Asn)
3g.122119489A>GCA435252279CD86c.945A>G (p.Lys315=)
c.783A>G (p.Lys261=)
c.927A>G (p.Lys309=)
c.699A>G (p.Lys233=)
c.787A>G
c.609A>G (p.Lys203=)
3g.122119489A>TCA354163880CD86c.945A>T (p.Lys315Asn)
c.783A>T (p.Lys261Asn)
c.927A>T (p.Lys309Asn)
c.699A>T (p.Lys233Asn)
c.787A>T
c.609A>T (p.Lys203Asn)
3g.122119490A>CCA354163881CD86c.946A>C (p.Ser316Arg)
c.784A>C (p.Ser262Arg)
c.928A>C (p.Ser310Arg)
c.700A>C (p.Ser234Arg)
c.788A>C
c.610A>C (p.Ser204Arg)
3g.122119490A>GCA354163882CD86c.946A>G (p.Ser316Gly)
c.784A>G (p.Ser262Gly)
c.928A>G (p.Ser310Gly)
c.700A>G (p.Ser234Gly)
c.788A>G
c.610A>G (p.Ser204Gly)
gnomAD v4
3g.122119490A>TCA354163883CD86c.946A>T (p.Ser316Cys)
c.784A>T (p.Ser262Cys)
c.928A>T (p.Ser310Cys)
c.700A>T (p.Ser234Cys)
c.788A>T
c.610A>T (p.Ser204Cys)
3g.122119491G>ACA2569368CD86c.947G>A (p.Ser316Asn)
c.785G>A (p.Ser262Asn)
c.929G>A (p.Ser310Asn)
c.701G>A (p.Ser234Asn)
c.789G>A
c.611G>A (p.Ser204Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.122119491G>CCA354163884CD86c.947G>C (p.Ser316Thr)
c.785G>C (p.Ser262Thr)
c.929G>C (p.Ser310Thr)
c.701G>C (p.Ser234Thr)
c.789G>C
c.611G>C (p.Ser204Thr)
gnomAD v4
3g.122119491G=CA1397810706CD86c.947G= (p.Ser316=)
c.785G= (p.Ser262=)
c.929G= (p.Ser310=)
c.701G= (p.Ser234=)
c.789G=
c.611G= (p.Ser204=)
3g.122119491G>TCA354163885CD86c.947G>T (p.Ser316Ile)
c.785G>T (p.Ser262Ile)
c.929G>T (p.Ser310Ile)
c.701G>T (p.Ser234Ile)
c.789G>T
c.611G>T (p.Ser204Ile)
3g.122119492T>ACA354163886CD86c.948T>A (p.Ser316Arg)
c.786T>A (p.Ser262Arg)
c.930T>A (p.Ser310Arg)
c.702T>A (p.Ser234Arg)
c.790T>A
c.612T>A (p.Ser204Arg)
3g.122119492T>CCA435252280CD86c.948T>C (p.Ser316=)
c.786T>C (p.Ser262=)
c.930T>C (p.Ser310=)
c.702T>C (p.Ser234=)
c.790T>C
c.612T>C (p.Ser204=)
gnomAD v4
3g.122119492T>GCA354163887CD86c.948T>G (p.Ser316Arg)
c.786T>G (p.Ser262Arg)
c.930T>G (p.Ser310Arg)
c.702T>G (p.Ser234Arg)
c.790T>G
c.612T>G (p.Ser204Arg)
3g.122119493T>ACA354163888CD86c.949T>A (p.Ser317Thr)
c.787T>A (p.Ser263Thr)
c.931T>A (p.Ser311Thr)
c.703T>A (p.Ser235Thr)
c.791T>A
c.613T>A (p.Ser205Thr)
3g.122119493T>CCA82750731CD86c.949T>C (p.Ser317Pro)
c.787T>C (p.Ser263Pro)
c.931T>C (p.Ser311Pro)
c.703T>C (p.Ser235Pro)
c.791T>C
c.613T>C (p.Ser205Pro)
dbSNP gnomAD v4
3g.122119493T>GCA354163889CD86c.949T>G (p.Ser317Ala)
c.787T>G (p.Ser263Ala)
c.931T>G (p.Ser311Ala)
c.703T>G (p.Ser235Ala)
c.791T>G
c.613T>G (p.Ser205Ala)
3g.122119493T=CA1397810708CD86c.949T= (p.Ser317=)
c.787T= (p.Ser263=)
c.931T= (p.Ser311=)
c.703T= (p.Ser235=)
c.791T=
c.613T= (p.Ser205=)
3g.122119494C>ACA354163890CD86c.950C>A (p.Ser317Ter)
c.788C>A (p.Ser263Ter)
c.932C>A (p.Ser311Ter)
c.704C>A (p.Ser235Ter)
c.792C>A
c.614C>A (p.Ser205Ter)
gnomAD v4
3g.122119494C=CA1397810714CD86c.950C= (p.Ser317=)
c.788C= (p.Ser263=)
c.932C= (p.Ser311=)
c.704C= (p.Ser235=)
c.792C=
c.614C= (p.Ser205=)
3g.122119494C>GCA354163891CD86c.950C>G (p.Ser317Trp)
c.788C>G (p.Ser263Trp)
c.932C>G (p.Ser311Trp)
c.704C>G (p.Ser235Trp)
c.792C>G
c.614C>G (p.Ser205Trp)
3g.122119494C>TCA2569369CD86c.950C>T (p.Ser317Leu)
c.788C>T (p.Ser263Leu)
c.932C>T (p.Ser311Leu)
c.704C>T (p.Ser235Leu)
c.792C>T
c.614C>T (p.Ser205Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122119495G>ACA2569370CD86c.951G>A (p.Ser317=)
c.789G>A (p.Ser263=)
c.933G>A (p.Ser311=)
c.705G>A (p.Ser235=)
c.793G>A
c.615G>A (p.Ser205=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122119495G>CCA435252281CD86c.951G>C (p.Ser317=)
c.789G>C (p.Ser263=)
c.933G>C (p.Ser311=)
c.705G>C (p.Ser235=)
c.793G>C
c.615G>C (p.Ser205=)
3g.122119495G=CA1397810717CD86c.951G= (p.Ser317=)
c.789G= (p.Ser263=)
c.933G= (p.Ser311=)
c.705G= (p.Ser235=)
c.793G=
c.615G= (p.Ser205=)
3g.122119495G>TCA435252282CD86c.951G>T (p.Ser317=)
c.789G>T (p.Ser263=)
c.933G>T (p.Ser311=)
c.705G>T (p.Ser235=)
c.793G>T
c.615G>T (p.Ser205=)
3g.122119496A>CCA354163892CD86c.952A>C (p.Lys318Gln)
c.790A>C (p.Lys264Gln)
c.934A>C (p.Lys312Gln)
c.706A>C (p.Lys236Gln)
c.794A>C
c.616A>C (p.Lys206Gln)
3g.122119496A>GCA354163893CD86c.952A>G (p.Lys318Glu)
c.790A>G (p.Lys264Glu)
c.934A>G (p.Lys312Glu)
c.706A>G (p.Lys236Glu)
c.794A>G
c.616A>G (p.Lys206Glu)
3g.122119496A>TCA354163894CD86c.952A>T (p.Lys318Ter)
c.790A>T (p.Lys264Ter)
c.934A>T (p.Lys312Ter)
c.706A>T (p.Lys236Ter)
c.794A>T
c.616A>T (p.Lys206Ter)
3g.122119497A>CCA354163895CD86c.953A>C (p.Lys318Thr)
c.791A>C (p.Lys264Thr)
c.935A>C (p.Lys312Thr)
c.707A>C (p.Lys236Thr)
c.795A>C
c.617A>C (p.Lys206Thr)
3g.122119497A>GCA354163897CD86c.953A>G (p.Lys318Arg)
c.791A>G (p.Lys264Arg)
c.935A>G (p.Lys312Arg)
c.707A>G (p.Lys236Arg)
c.795A>G
c.617A>G (p.Lys206Arg)
3g.122119497A>TCA354163896CD86c.953A>T (p.Lys318Met)
c.791A>T (p.Lys264Met)
c.935A>T (p.Lys312Met)
c.707A>T (p.Lys236Met)
c.795A>T
c.617A>T (p.Lys206Met)
3g.122119498G>ACA435252283CD86c.954G>A (p.Lys318=)
c.792G>A (p.Lys264=)
c.936G>A (p.Lys312=)
c.708G>A (p.Lys236=)
c.796G>A
c.618G>A (p.Lys206=)
3g.122119498G>CCA354163898CD86c.954G>C (p.Lys318Asn)
c.792G>C (p.Lys264Asn)
c.936G>C (p.Lys312Asn)
c.708G>C (p.Lys236Asn)
c.796G>C
c.618G>C (p.Lys206Asn)
3g.122119498G>TCA354163899CD86c.954G>T (p.Lys318Asn)
c.792G>T (p.Lys264Asn)
c.936G>T (p.Lys312Asn)
c.708G>T (p.Lys236Asn)
c.796G>T
c.618G>T (p.Lys206Asn)
3g.122119499A>CCA354163900CD86c.955A>C (p.Thr319Pro)
c.793A>C (p.Thr265Pro)
c.937A>C (p.Thr313Pro)
c.709A>C (p.Thr237Pro)
c.797A>C
c.619A>C (p.Thr207Pro)
3g.122119499A>GCA354163901CD86c.955A>G (p.Thr319Ala)
c.793A>G (p.Thr265Ala)
c.937A>G (p.Thr313Ala)
c.709A>G (p.Thr237Ala)
c.797A>G
c.619A>G (p.Thr207Ala)
3g.122119499A>TCA354163902CD86c.955A>T (p.Thr319Ser)
c.793A>T (p.Thr265Ser)
c.937A>T (p.Thr313Ser)
c.709A>T (p.Thr237Ser)
c.797A>T
c.619A>T (p.Thr207Ser)
3g.122119500C>ACA354163903CD86c.956C>A (p.Thr319Lys)
c.794C>A (p.Thr265Lys)
c.938C>A (p.Thr313Lys)
c.710C>A (p.Thr237Lys)
c.798C>A
c.620C>A (p.Thr207Lys)
gnomAD v4
3g.122119500C=CA1397810719CD86c.956C= (p.Thr319=)
c.794C= (p.Thr265=)
c.938C= (p.Thr313=)
c.710C= (p.Thr237=)
c.798C=
c.620C= (p.Thr207=)
3g.122119500C>GCA354163904CD86c.956C>G (p.Thr319Arg)
c.794C>G (p.Thr265Arg)
c.938C>G (p.Thr313Arg)
c.710C>G (p.Thr237Arg)
c.798C>G
c.620C>G (p.Thr207Arg)
3g.122119500C>TCA354163905CD86c.956C>T (p.Thr319Ile)
c.794C>T (p.Thr265Ile)
c.938C>T (p.Thr313Ile)
c.710C>T (p.Thr237Ile)
c.798C>T
c.620C>T (p.Thr207Ile)
dbSNP gnomAD v3 gnomAD v4
3g.122119501A=CA1397810721CD86c.957A= (p.Thr319=)
c.795A= (p.Thr265=)
c.939A= (p.Thr313=)
c.711A= (p.Thr237=)
c.799A=
c.621A= (p.Thr207=)
3g.122119501A>CCA435252284CD86c.957A>C (p.Thr319=)
c.795A>C (p.Thr265=)
c.939A>C (p.Thr313=)
c.711A>C (p.Thr237=)
c.799A>C
c.621A>C (p.Thr207=)
gnomAD v4
3g.122119501A>GCA435252285CD86c.957A>G (p.Thr319=)
c.795A>G (p.Thr265=)
c.939A>G (p.Thr313=)
c.711A>G (p.Thr237=)
c.799A>G
c.621A>G (p.Thr207=)
dbSNP gnomAD v4
3g.122119501A>TCA435252286CD86c.957A>T (p.Thr319=)
c.795A>T (p.Thr265=)
c.939A>T (p.Thr313=)
c.711A>T (p.Thr237=)
c.799A>T
c.621A>T (p.Thr207=)
3g.122119502T>ACA354163906CD86c.958T>A (p.Ser320Thr)
c.796T>A (p.Ser266Thr)
c.940T>A (p.Ser314Thr)
c.712T>A (p.Ser238Thr)
c.800T>A
c.622T>A (p.Ser208Thr)
dbSNP gnomAD v2 gnomAD v4
3g.122119502T>CCA354163907CD86c.958T>C (p.Ser320Pro)
c.796T>C (p.Ser266Pro)
c.940T>C (p.Ser314Pro)
c.712T>C (p.Ser238Pro)
c.800T>C
c.622T>C (p.Ser208Pro)
dbSNP gnomAD v2 gnomAD v4
3g.122119502T>GCA354163908CD86c.958T>G (p.Ser320Ala)
c.796T>G (p.Ser266Ala)
c.940T>G (p.Ser314Ala)
c.712T>G (p.Ser238Ala)
c.800T>G
c.622T>G (p.Ser208Ala)
3g.122119502T=CA1397810725CD86c.958T= (p.Ser320=)
c.796T= (p.Ser266=)
c.940T= (p.Ser314=)
c.712T= (p.Ser238=)
c.800T=
c.622T= (p.Ser208=)
3g.122119503C>ACA354163911CD86c.959C>A (p.Ser320Tyr)
c.797C>A (p.Ser266Tyr)
c.941C>A (p.Ser314Tyr)
c.713C>A (p.Ser238Tyr)
c.801C>A
c.623C>A (p.Ser208Tyr)
gnomAD v4
3g.122119503C>GCA354163909CD86c.959C>G (p.Ser320Cys)
c.797C>G (p.Ser266Cys)
c.941C>G (p.Ser314Cys)
c.713C>G (p.Ser238Cys)
c.801C>G
c.623C>G (p.Ser208Cys)
3g.122119503C>TCA354163910CD86c.959C>T (p.Ser320Phe)
c.797C>T (p.Ser266Phe)
c.941C>T (p.Ser314Phe)
c.713C>T (p.Ser238Phe)
c.801C>T
c.623C>T (p.Ser208Phe)
3g.122119504T>ACA435252287CD86c.960T>A (p.Ser320=)
c.798T>A (p.Ser266=)
c.942T>A (p.Ser314=)
c.714T>A (p.Ser238=)
c.802T>A
c.624T>A (p.Ser208=)
3g.122119504T>CCA435252288CD86c.960T>C (p.Ser320=)
c.798T>C (p.Ser266=)
c.942T>C (p.Ser314=)
c.714T>C (p.Ser238=)
c.802T>C
c.624T>C (p.Ser208=)
dbSNP gnomAD v3 gnomAD v4
3g.122119504T>GCA435252289CD86c.960T>G (p.Ser320=)
c.798T>G (p.Ser266=)
c.942T>G (p.Ser314=)
c.714T>G (p.Ser238=)
c.802T>G
c.624T>G (p.Ser208=)
3g.122119504T=CA1397810729CD86c.960T= (p.Ser320=)
c.798T= (p.Ser266=)
c.942T= (p.Ser314=)
c.714T= (p.Ser238=)
c.802T=
c.624T= (p.Ser208=)
3g.122119505T>ACA354163912CD86c.961T>A (p.Ser321Thr)
c.799T>A (p.Ser267Thr)
c.943T>A (p.Ser315Thr)
c.715T>A (p.Ser239Thr)
c.803T>A
c.625T>A (p.Ser209Thr)
3g.122119505T>CCA354163913CD86c.961T>C (p.Ser321Pro)
c.799T>C (p.Ser267Pro)
c.943T>C (p.Ser315Pro)
c.715T>C (p.Ser239Pro)
c.803T>C
c.625T>C (p.Ser209Pro)
3g.122119505T>GCA354163914CD86c.961T>G (p.Ser321Ala)
c.799T>G (p.Ser267Ala)
c.943T>G (p.Ser315Ala)
c.715T>G (p.Ser239Ala)
c.803T>G
c.625T>G (p.Ser209Ala)
3g.122119506C>ACA354163915CD86c.962C>A (p.Ser321Ter)
c.800C>A (p.Ser267Ter)
c.944C>A (p.Ser315Ter)
c.716C>A (p.Ser239Ter)
c.804C>A
c.626C>A (p.Ser209Ter)
gnomAD v4 COSMIC
3g.122119506C>GCA354163916CD86c.962C>G (p.Ser321Ter)
c.800C>G (p.Ser267Ter)
c.944C>G (p.Ser315Ter)
c.716C>G (p.Ser239Ter)
c.804C>G
c.626C>G (p.Ser209Ter)
3g.122119506C>TCA354163917CD86c.962C>T (p.Ser321Leu)
c.800C>T (p.Ser267Leu)
c.944C>T (p.Ser315Leu)
c.716C>T (p.Ser239Leu)
c.804C>T
c.626C>T (p.Ser209Leu)
3g.122119507A=CA1397810735CD86c.963A= (p.Ser321=)
c.801A= (p.Ser267=)
c.945A= (p.Ser315=)
c.717A= (p.Ser239=)
c.805A=
c.627A= (p.Ser209=)
3g.122119507A>CCA2569371CD86c.963A>C (p.Ser321=)
c.801A>C (p.Ser267=)
c.945A>C (p.Ser315=)
c.717A>C (p.Ser239=)
c.805A>C
c.627A>C (p.Ser209=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122119507A>GCA2569372CD86c.963A>G (p.Ser321=)
c.801A>G (p.Ser267=)
c.945A>G (p.Ser315=)
c.717A>G (p.Ser239=)
c.805A>G
c.627A>G (p.Ser209=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.122119507A>TCA435252290CD86c.963A>T (p.Ser321=)
c.801A>T (p.Ser267=)
c.945A>T (p.Ser315=)
c.717A>T (p.Ser239=)
c.805A>T
c.627A>T (p.Ser209=)
dbSNP gnomAD v3 gnomAD v4
3g.122119508T>ACA354163918CD86c.964T>A (p.Cys322Ser)
c.802T>A (p.Cys268Ser)
c.946T>A (p.Cys316Ser)
c.718T>A (p.Cys240Ser)
c.806T>A
c.628T>A (p.Cys210Ser)
3g.122119508T>CCA354163919CD86c.964T>C (p.Cys322Arg)
c.802T>C (p.Cys268Arg)
c.946T>C (p.Cys316Arg)
c.718T>C (p.Cys240Arg)
c.806T>C
c.628T>C (p.Cys210Arg)
dbSNP gnomAD v4
3g.122119508T>GCA354163920CD86c.964T>G (p.Cys322Gly)
c.802T>G (p.Cys268Gly)
c.946T>G (p.Cys316Gly)
c.718T>G (p.Cys240Gly)
c.806T>G
c.628T>G (p.Cys210Gly)
3g.122119508T=CA1397810737CD86c.964T= (p.Cys322=)
c.802T= (p.Cys268=)
c.946T= (p.Cys316=)
c.718T= (p.Cys240=)
c.806T=
c.628T= (p.Cys210=)
3g.122119509G>ACA2569373CD86c.965G>A (p.Cys322Tyr)
c.803G>A (p.Cys268Tyr)
c.947G>A (p.Cys316Tyr)
c.719G>A (p.Cys240Tyr)
c.807G>A
c.629G>A (p.Cys210Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.122119509G>CCA354163922CD86c.965G>C (p.Cys322Ser)
c.803G>C (p.Cys268Ser)
c.947G>C (p.Cys316Ser)
c.719G>C (p.Cys240Ser)
c.807G>C
c.629G>C (p.Cys210Ser)
3g.122119509G=CA1397810741CD86c.965G= (p.Cys322=)
c.803G= (p.Cys268=)
c.947G= (p.Cys316=)
c.719G= (p.Cys240=)
c.807G=
c.629G= (p.Cys210=)
3g.122119509G>TCA354163921CD86c.965G>T (p.Cys322Phe)
c.803G>T (p.Cys268Phe)
c.947G>T (p.Cys316Phe)
c.719G>T (p.Cys240Phe)
c.807G>T
c.629G>T (p.Cys210Phe)
3g.122119510C>ACA82750753CD86c.966C>A (p.Cys322Ter)
c.804C>A (p.Cys268Ter)
c.948C>A (p.Cys316Ter)
c.720C>A (p.Cys240Ter)
c.808C>A
c.630C>A (p.Cys210Ter)
dbSNP gnomAD v3 gnomAD v4
3g.122119510C=CA1397810745CD86c.966C= (p.Cys322=)
c.804C= (p.Cys268=)
c.948C= (p.Cys316=)
c.720C= (p.Cys240=)
c.808C=
c.630C= (p.Cys210=)
3g.122119510C>GCA354163923CD86c.966C>G (p.Cys322Trp)
c.804C>G (p.Cys268Trp)
c.948C>G (p.Cys316Trp)
c.720C>G (p.Cys240Trp)
c.808C>G
c.630C>G (p.Cys210Trp)
gnomAD v4
3g.122119510C>TCA2569374CD86c.966C>T (p.Cys322=)
c.804C>T (p.Cys268=)
c.948C>T (p.Cys316=)
c.720C>T (p.Cys240=)
c.808C>T
c.630C>T (p.Cys210=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122119511G>ACA2569375CD86c.967G>A (p.Asp323Asn)
c.805G>A (p.Asp269Asn)
c.949G>A (p.Asp317Asn)
c.721G>A (p.Asp241Asn)
c.809G>A
c.631G>A (p.Asp211Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122119511G>CCA354163924CD86c.967G>C (p.Asp323His)
c.805G>C (p.Asp269His)
c.949G>C (p.Asp317His)
c.721G>C (p.Asp241His)
c.809G>C
c.631G>C (p.Asp211His)
3g.122119511G=CA1397810751CD86c.967G= (p.Asp323=)
c.805G= (p.Asp269=)
c.949G= (p.Asp317=)
c.721G= (p.Asp241=)
c.809G=
c.631G= (p.Asp211=)
3g.122119511G>TCA354163925CD86c.967G>T (p.Asp323Tyr)
c.805G>T (p.Asp269Tyr)
c.949G>T (p.Asp317Tyr)
c.721G>T (p.Asp241Tyr)
c.809G>T
c.631G>T (p.Asp211Tyr)
gnomAD v4
3g.122119512A=CA1397810756CD86c.968A= (p.Asp323=)
c.806A= (p.Asp269=)
c.950A= (p.Asp317=)
c.722A= (p.Asp241=)
c.810A=
c.632A= (p.Asp211=)
3g.122119512A>CCA354163928CD86c.968A>C (p.Asp323Ala)
c.806A>C (p.Asp269Ala)
c.950A>C (p.Asp317Ala)
c.722A>C (p.Asp241Ala)
c.810A>C
c.632A>C (p.Asp211Ala)
dbSNP
3g.122119512A>GCA354163926CD86c.968A>G (p.Asp323Gly)
c.806A>G (p.Asp269Gly)
c.950A>G (p.Asp317Gly)
c.722A>G (p.Asp241Gly)
c.810A>G
c.632A>G (p.Asp211Gly)
3g.122119512A>TCA354163927CD86c.968A>T (p.Asp323Val)
c.806A>T (p.Asp269Val)
c.950A>T (p.Asp317Val)
c.722A>T (p.Asp241Val)
c.810A>T
c.632A>T (p.Asp211Val)
3g.122119513C>ACA354163929CD86c.969C>A (p.Asp323Glu)
c.807C>A (p.Asp269Glu)
c.951C>A (p.Asp317Glu)
c.723C>A (p.Asp241Glu)
c.811C>A
c.633C>A (p.Asp211Glu)
gnomAD v4
3g.122119513C=CA1397810759CD86c.969C= (p.Asp323=)
c.807C= (p.Asp269=)
c.951C= (p.Asp317=)
c.723C= (p.Asp241=)
c.811C=
c.633C= (p.Asp211=)
3g.122119513C>GCA354163930CD86c.969C>G (p.Asp323Glu)
c.807C>G (p.Asp269Glu)
c.951C>G (p.Asp317Glu)
c.723C>G (p.Asp241Glu)
c.811C>G
c.633C>G (p.Asp211Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122119513C>TCA435252291CD86c.969C>T (p.Asp323=)
c.807C>T (p.Asp269=)
c.951C>T (p.Asp317=)
c.723C>T (p.Asp241=)
c.811C>T
c.633C>T (p.Asp211=)
3g.122119514A>CCA354163931CD86c.970A>C (p.Lys324Gln)
c.808A>C (p.Lys270Gln)
c.952A>C (p.Lys318Gln)
c.724A>C (p.Lys242Gln)
c.812A>C
c.634A>C (p.Lys212Gln)
3g.122119514A>GCA354163932CD86c.970A>G (p.Lys324Glu)
c.808A>G (p.Lys270Glu)
c.952A>G (p.Lys318Glu)
c.724A>G (p.Lys242Glu)
c.812A>G
c.634A>G (p.Lys212Glu)
gnomAD v4
3g.122119514A>TCA354163933CD86c.970A>T (p.Lys324Ter)
c.808A>T (p.Lys270Ter)
c.952A>T (p.Lys318Ter)
c.724A>T (p.Lys242Ter)
c.812A>T
c.634A>T (p.Lys212Ter)
3g.122119515A>CCA354163936CD86c.971A>C (p.Lys324Thr)
c.809A>C (p.Lys270Thr)
c.953A>C (p.Lys318Thr)
c.725A>C (p.Lys242Thr)
c.813A>C
c.635A>C (p.Lys212Thr)
3g.122119515A>GCA354163934CD86c.971A>G (p.Lys324Arg)
c.809A>G (p.Lys270Arg)
c.953A>G (p.Lys318Arg)
c.725A>G (p.Lys242Arg)
c.813A>G
c.635A>G (p.Lys212Arg)
COSMIC
3g.122119515A>TCA354163935CD86c.971A>T (p.Lys324Ile)
c.809A>T (p.Lys270Ile)
c.953A>T (p.Lys318Ile)
c.725A>T (p.Lys242Ile)
c.813A>T
c.635A>T (p.Lys212Ile)
3g.122119516A>CCA354163937CD86c.972A>C (p.Lys324Asn)
c.810A>C (p.Lys270Asn)
c.954A>C (p.Lys318Asn)
c.726A>C (p.Lys242Asn)
c.814A>C
c.636A>C (p.Lys212Asn)
3g.122119516A>GCA435252292CD86c.972A>G (p.Lys324=)
c.810A>G (p.Lys270=)
c.954A>G (p.Lys318=)
c.726A>G (p.Lys242=)
c.814A>G
c.636A>G (p.Lys212=)
3g.122119516A>TCA354163938CD86c.972A>T (p.Lys324Asn)
c.810A>T (p.Lys270Asn)
c.954A>T (p.Lys318Asn)
c.726A>T (p.Lys242Asn)
c.814A>T
c.636A>T (p.Lys212Asn)
3g.122119517A>CCA354163939CD86c.973A>C (p.Ser325Arg)
c.811A>C (p.Ser271Arg)
c.955A>C (p.Ser319Arg)
c.727A>C (p.Ser243Arg)
c.815A>C
c.637A>C (p.Ser213Arg)
3g.122119517A>GCA354163940CD86c.973A>G (p.Ser325Gly)
c.811A>G (p.Ser271Gly)
c.955A>G (p.Ser319Gly)
c.727A>G (p.Ser243Gly)
c.815A>G
c.637A>G (p.Ser213Gly)
3g.122119517A>TCA354163941CD86c.973A>T (p.Ser325Cys)
c.811A>T (p.Ser271Cys)
c.955A>T (p.Ser319Cys)
c.727A>T (p.Ser243Cys)
c.815A>T
c.637A>T (p.Ser213Cys)
3g.122119518G>ACA354163942CD86c.974G>A (p.Ser325Asn)
c.812G>A (p.Ser271Asn)
c.956G>A (p.Ser319Asn)
c.728G>A (p.Ser243Asn)
c.816G>A
c.638G>A (p.Ser213Asn)
3g.122119518G>CCA354163943CD86c.974G>C (p.Ser325Thr)
c.812G>C (p.Ser271Thr)
c.956G>C (p.Ser319Thr)
c.728G>C (p.Ser243Thr)
c.816G>C
c.638G>C (p.Ser213Thr)
3g.122119518G>TCA354163944CD86c.974G>T (p.Ser325Ile)
c.812G>T (p.Ser271Ile)
c.956G>T (p.Ser319Ile)
c.728G>T (p.Ser243Ile)
c.816G>T
c.638G>T (p.Ser213Ile)
3g.122119519T>ACA354163945CD86c.975T>A (p.Ser325Arg)
c.813T>A (p.Ser271Arg)
c.957T>A (p.Ser319Arg)
c.729T>A (p.Ser243Arg)
c.817T>A
c.639T>A (p.Ser213Arg)
gnomAD v4
3g.122119519T>CCA435252293CD86c.975T>C (p.Ser325=)
c.813T>C (p.Ser271=)
c.957T>C (p.Ser319=)
c.729T>C (p.Ser243=)
c.817T>C
c.639T>C (p.Ser213=)
3g.122119519T>GCA354163946CD86c.975T>G (p.Ser325Arg)
c.813T>G (p.Ser271Arg)
c.957T>G (p.Ser319Arg)
c.729T>G (p.Ser243Arg)
c.817T>G
c.639T>G (p.Ser213Arg)
COSMIC
3g.122119520G>ACA354163947CD86c.976G>A (p.Asp326Asn)
c.814G>A (p.Asp272Asn)
c.958G>A (p.Asp320Asn)
c.730G>A (p.Asp244Asn)
c.818G>A
c.640G>A (p.Asp214Asn)
dbSNP gnomAD v4 COSMIC
3g.122119520G>CCA354163948CD86c.976G>C (p.Asp326His)
c.814G>C (p.Asp272His)
c.958G>C (p.Asp320His)
c.730G>C (p.Asp244His)
c.818G>C
c.640G>C (p.Asp214His)
3g.122119520G=CA1397810762CD86c.976G= (p.Asp326=)
c.814G= (p.Asp272=)
c.958G= (p.Asp320=)
c.730G= (p.Asp244=)
c.818G=
c.640G= (p.Asp214=)
3g.122119520G>TCA354163949CD86c.976G>T (p.Asp326Tyr)
c.814G>T (p.Asp272Tyr)
c.958G>T (p.Asp320Tyr)
c.730G>T (p.Asp244Tyr)
c.818G>T
c.640G>T (p.Asp214Tyr)
3g.122119521A=CA1397810764CD86c.977A= (p.Asp326=)
c.815A= (p.Asp272=)
c.959A= (p.Asp320=)
c.731A= (p.Asp244=)
c.819A=
c.641A= (p.Asp214=)
3g.122119521A>CCA354163950CD86c.977A>C (p.Asp326Ala)
c.815A>C (p.Asp272Ala)
c.959A>C (p.Asp320Ala)
c.731A>C (p.Asp244Ala)
c.819A>C
c.641A>C (p.Asp214Ala)
3g.122119521A>GCA354163952CD86c.977A>G (p.Asp326Gly)
c.815A>G (p.Asp272Gly)
c.959A>G (p.Asp320Gly)
c.731A>G (p.Asp244Gly)
c.819A>G
c.641A>G (p.Asp214Gly)
gnomAD v4
3g.122119521A>TCA354163951CD86c.977A>T (p.Asp326Val)
c.815A>T (p.Asp272Val)
c.959A>T (p.Asp320Val)
c.731A>T (p.Asp244Val)
c.819A>T
c.641A>T (p.Asp214Val)
dbSNP gnomAD v2 gnomAD v4
3g.122119522T>ACA354163953CD86c.978T>A (p.Asp326Glu)
c.816T>A (p.Asp272Glu)
c.960T>A (p.Asp320Glu)
c.732T>A (p.Asp244Glu)
c.820T>A
c.642T>A (p.Asp214Glu)
3g.122119522T>CCA435252294CD86c.978T>C (p.Asp326=)
c.816T>C (p.Asp272=)
c.960T>C (p.Asp320=)
c.732T>C (p.Asp244=)
c.820T>C
c.642T>C (p.Asp214=)
dbSNP gnomAD v2 gnomAD v4
3g.122119522T>GCA354163954CD86c.978T>G (p.Asp326Glu)
c.816T>G (p.Asp272Glu)
c.960T>G (p.Asp320Glu)
c.732T>G (p.Asp244Glu)
c.820T>G
c.642T>G (p.Asp214Glu)
3g.122119522T=CA1397810772CD86c.978T= (p.Asp326=)
c.816T= (p.Asp272=)
c.960T= (p.Asp320=)
c.732T= (p.Asp244=)
c.820T=
c.642T= (p.Asp214=)
3g.122119523A>CCA354163955CD86c.979A>C (p.Thr327Pro)
c.817A>C (p.Thr273Pro)
c.961A>C (p.Thr321Pro)
c.733A>C (p.Thr245Pro)
c.821A>C
c.643A>C (p.Thr215Pro)
3g.122119523A>GCA354163956CD86c.979A>G (p.Thr327Ala)
c.817A>G (p.Thr273Ala)
c.961A>G (p.Thr321Ala)
c.733A>G (p.Thr245Ala)
c.821A>G
c.643A>G (p.Thr215Ala)
3g.122119523A>TCA354163957CD86c.979A>T (p.Thr327Ser)
c.817A>T (p.Thr273Ser)
c.961A>T (p.Thr321Ser)
c.733A>T (p.Thr245Ser)
c.821A>T
c.643A>T (p.Thr215Ser)
3g.122119524C>ACA354163958CD86c.980C>A (p.Thr327Lys)
c.818C>A (p.Thr273Lys)
c.962C>A (p.Thr321Lys)
c.734C>A (p.Thr245Lys)
c.822C>A
c.644C>A (p.Thr215Lys)
gnomAD v4
3g.122119524C>GCA354163959CD86c.980C>G (p.Thr327Arg)
c.818C>G (p.Thr273Arg)
c.962C>G (p.Thr321Arg)
c.734C>G (p.Thr245Arg)
c.822C>G
c.644C>G (p.Thr215Arg)
3g.122119524C>TCA354163960CD86c.980C>T (p.Thr327Ile)
c.818C>T (p.Thr273Ile)
c.962C>T (p.Thr321Ile)
c.734C>T (p.Thr245Ile)
c.822C>T
c.644C>T (p.Thr215Ile)
3g.122119524_122119526delinsCATCA1397810775CD86c.980_982delinsCAT (p.Thr327=)
c.818_820delinsCAT (p.Thr273=)
c.962_964delinsCAT (p.Thr321=)
c.734_736delinsCAT (p.Thr245=)
c.822_824delinsCAT
c.644_646delinsCAT (p.Thr215=)
3g.122119525A=CA1397810778CD86c.981A= (p.Thr327=)
c.819A= (p.Thr273=)
c.963A= (p.Thr321=)
c.735A= (p.Thr245=)
c.823A=
c.645A= (p.Thr215=)
3g.122119525A>CCA435252295CD86c.981A>C (p.Thr327=)
c.819A>C (p.Thr273=)
c.963A>C (p.Thr321=)
c.735A>C (p.Thr245=)
c.823A>C
c.645A>C (p.Thr215=)
3g.122119525A>GCA2569376CD86c.981A>G (p.Thr327=)
c.819A>G (p.Thr273=)
c.963A>G (p.Thr321=)
c.735A>G (p.Thr245=)
c.823A>G
c.645A>G (p.Thr215=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122119525A>TCA435252296CD86c.981A>T (p.Thr327=)
c.819A>T (p.Thr273=)
c.963A>T (p.Thr321=)
c.735A>T (p.Thr245=)
c.823A>T
c.645A>T (p.Thr215=)
3g.122119525_122119526delCA898116130CD86c.981_982del (p.Cys328PhefsTer6)
c.819_820del (p.Cys274PhefsTer6)
c.963_964del (p.Cys322PhefsTer6)
c.735_736del (p.Cys246PhefsTer6)
c.823_824del
c.645_646del (p.Cys216PhefsTer6)
dbSNP gnomAD v4
3g.122119526T>ACA354163961CD86c.982T>A (p.Cys328Ser)
c.820T>A (p.Cys274Ser)
c.964T>A (p.Cys322Ser)
c.736T>A (p.Cys246Ser)
c.824T>A
c.646T>A (p.Cys216Ser)
gnomAD v4
3g.122119526T>CCA354163962CD86c.982T>C (p.Cys328Arg)
c.820T>C (p.Cys274Arg)
c.964T>C (p.Cys322Arg)
c.736T>C (p.Cys246Arg)
c.824T>C
c.646T>C (p.Cys216Arg)
dbSNP gnomAD v2 gnomAD v4
3g.122119526T>GCA354163963CD86c.982T>G (p.Cys328Gly)
c.820T>G (p.Cys274Gly)
c.964T>G (p.Cys322Gly)
c.736T>G (p.Cys246Gly)
c.824T>G
c.646T>G (p.Cys216Gly)
dbSNP
3g.122119526T=CA1397810782CD86c.982T= (p.Cys328=)
c.820T= (p.Cys274=)
c.964T= (p.Cys322=)
c.736T= (p.Cys246=)
c.824T=
c.646T= (p.Cys216=)
3g.122119527G>ACA354163966CD86c.983G>A (p.Cys328Tyr)
c.821G>A (p.Cys274Tyr)
c.965G>A (p.Cys322Tyr)
c.737G>A (p.Cys246Tyr)
c.825G>A
c.647G>A (p.Cys216Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122119527G>CCA354163965CD86c.983G>C (p.Cys328Ser)
c.821G>C (p.Cys274Ser)
c.965G>C (p.Cys322Ser)
c.737G>C (p.Cys246Ser)
c.825G>C
c.647G>C (p.Cys216Ser)
3g.122119527G=CA1397810785CD86c.983G= (p.Cys328=)
c.821G= (p.Cys274=)
c.965G= (p.Cys322=)
c.737G= (p.Cys246=)
c.825G=
c.647G= (p.Cys216=)
3g.122119527G>TCA354163964CD86c.983G>T (p.Cys328Phe)
c.821G>T (p.Cys274Phe)
c.965G>T (p.Cys322Phe)
c.737G>T (p.Cys246Phe)
c.825G>T
c.647G>T (p.Cys216Phe)
3g.122119528T>ACA354163967CD86c.984T>A (p.Cys328Ter)
c.822T>A (p.Cys274Ter)
c.966T>A (p.Cys322Ter)
c.738T>A (p.Cys246Ter)
c.826T>A
c.648T>A (p.Cys216Ter)
3g.122119528T>CCA435252298CD86c.984T>C (p.Cys328=)
c.822T>C (p.Cys274=)
c.966T>C (p.Cys322=)
c.738T>C (p.Cys246=)
c.826T>C
c.648T>C (p.Cys216=)
3g.122119528T>GCA354163968CD86c.984T>G (p.Cys328Trp)
c.822T>G (p.Cys274Trp)
c.966T>G (p.Cys322Trp)
c.738T>G (p.Cys246Trp)
c.826T>G
c.648T>G (p.Cys216Trp)
3g.122119532delCA2667228390CD86c.988del (p.Ter330AsnextTer2)
c.826del (p.Ter276AsnextTer2)
c.970del (p.Ter324AsnextTer2)
c.742del (p.Ter248AsnextTer2)
c.830del
c.652del (p.Ter218AsnextTer2)
gnomAD v4
3g.122119529T>ACA354163969CD86c.985T>A (p.Phe329Ile)
c.823T>A (p.Phe275Ile)
c.967T>A (p.Phe323Ile)
c.739T>A (p.Phe247Ile)
c.827T>A
c.649T>A (p.Phe217Ile)
3g.122119529T>CCA354163970CD86c.985T>C (p.Phe329Leu)
c.823T>C (p.Phe275Leu)
c.967T>C (p.Phe323Leu)
c.739T>C (p.Phe247Leu)
c.827T>C
c.649T>C (p.Phe217Leu)
gnomAD v4
3g.122119529T>GCA354163971CD86c.985T>G (p.Phe329Val)
c.823T>G (p.Phe275Val)
c.967T>G (p.Phe323Val)
c.739T>G (p.Phe247Val)
c.827T>G
c.649T>G (p.Phe217Val)
3g.122119530T>ACA354163972CD86c.986T>A (p.Phe329Tyr)
c.824T>A (p.Phe275Tyr)
c.968T>A (p.Phe323Tyr)
c.740T>A (p.Phe247Tyr)
c.828T>A
c.650T>A (p.Phe217Tyr)
3g.122119530T>CCA354163973CD86c.986T>C (p.Phe329Ser)
c.824T>C (p.Phe275Ser)
c.968T>C (p.Phe323Ser)
c.740T>C (p.Phe247Ser)
c.828T>C
c.650T>C (p.Phe217Ser)
3g.122119530T>GCA354163974CD86c.986T>G (p.Phe329Cys)
c.824T>G (p.Phe275Cys)
c.968T>G (p.Phe323Cys)
c.740T>G (p.Phe247Cys)
c.828T>G
c.650T>G (p.Phe217Cys)
3g.122119531T>ACA354163975CD86c.987T>A (p.Phe329Leu)
c.825T>A (p.Phe275Leu)
c.969T>A (p.Phe323Leu)
c.741T>A (p.Phe247Leu)
c.829T>A
c.651T>A (p.Phe217Leu)
dbSNP
3g.122119531T>CCA435252299CD86c.987T>C (p.Phe329=)
c.825T>C (p.Phe275=)
c.969T>C (p.Phe323=)
c.741T>C (p.Phe247=)
c.829T>C
c.651T>C (p.Phe217=)
3g.122119531T>GCA354163976CD86c.987T>G (p.Phe329Leu)
c.825T>G (p.Phe275Leu)
c.969T>G (p.Phe323Leu)
c.741T>G (p.Phe247Leu)
c.829T>G
c.651T>G (p.Phe217Leu)
3g.122119532T>ACA354163977CD86c.988T>A (p.Ter330Lys)
c.826T>A (p.Ter276Lys)
c.970T>A (p.Ter324Lys)
c.742T>A (p.Ter248Lys)
c.830T>A
c.652T>A (p.Ter218Lys)
3g.122119532T>CCA354163978CD86c.988T>C (p.Ter330Gln)
c.826T>C (p.Ter276Gln)
c.970T>C (p.Ter324Gln)
c.742T>C (p.Ter248Gln)
c.830T>C
c.652T>C (p.Ter218Gln)
3g.122119532T>GCA354163979CD86c.988T>G (p.Ter330Glu)
c.826T>G (p.Ter276Glu)
c.970T>G (p.Ter324Glu)
c.742T>G (p.Ter248Glu)
c.830T>G
c.652T>G (p.Ter218Glu)
3g.122119533A>CCA354163980CD86c.989A>C (p.Ter330Ser)
c.827A>C (p.Ter276Ser)
c.971A>C (p.Ter324Ser)
c.743A>C (p.Ter248Ser)
c.831A>C
c.653A>C (p.Ter218Ser)
3g.122119533A>GCA435252300CD86c.989A>G (p.Ter330=)
c.827A>G (p.Ter276=)
c.971A>G (p.Ter324=)
c.743A>G (p.Ter248=)
c.831A>G
c.653A>G (p.Ter218=)
3g.122119533A>TCA354163981CD86c.989A>T (p.Ter330Leu)
c.827A>T (p.Ter276Leu)
c.971A>T (p.Ter324Leu)
c.743A>T (p.Ter248Leu)
c.831A>T
c.653A>T (p.Ter218Leu)
3g.122119534A>CCA354163982CD86c.990A>C (p.Ter330Tyr)
c.828A>C (p.Ter276Tyr)
c.972A>C (p.Ter324Tyr)
c.744A>C (p.Ter248Tyr)
c.832A>C
c.654A>C (p.Ter218Tyr)
3g.122119534A>GCA435252301CD86c.990A>G (p.Ter330=)
c.828A>G (p.Ter276=)
c.972A>G (p.Ter324=)
c.744A>G (p.Ter248=)
c.832A>G
c.654A>G (p.Ter218=)
3g.122119534A>TCA354163983CD86c.990A>T (p.Ter330Tyr)
c.828A>T (p.Ter276Tyr)
c.972A>T (p.Ter324Tyr)
c.744A>T (p.Ter248Tyr)
c.832A>T
c.654A>T (p.Ter218Tyr)
3g.122119535T>CCA2667228391CD86c.*1T>C (n.*1T>C)
c.833T>C
gnomAD v4
3g.122119536T>ACA2667228392CD86c.*2T>A (n.*2T>A)
c.834T>A
gnomAD v4
3g.122119536_122119537delinsTACA1397810788CD86c.*2_*3delinsTA (n.*2_*3delinsTA)
c.834_835delinsTA
3g.122119537A>GCA2544512540CD86c.*3A>G (n.*3A>G)
c.835A>G
gnomAD v4
3g.122119539delCA898116140CD86c.*5del (n.*5del)
c.837del
dbSNP
3g.122119538A>GCA2667228393CD86c.*4A>G (n.*4A>G)
c.836A>G
gnomAD v4
3g.122119540G>ACA545648314CD86c.*6G>A (n.*6G>A)
c.838G>A
dbSNP gnomAD v2 gnomAD v4
3g.122119540G=CA1397810790CD86c.*6G= (n.*6G=)
c.838G=
3g.122119540_122119549delCA2667228394CD86c.*6_*15del (n.*6_*15del)
c.838_847del
gnomAD v4
3g.122119541A>GCA2667228395CD86c.*7A>G (n.*7A>G)
c.839A>G
gnomAD v4
3g.122119542G>ACA2667228396CD86c.*8G>A (n.*8G>A)
c.840G>A
gnomAD v4
3g.122119542G>CCA1397810792CD86c.*8G>C (n.*8G>C)
c.840G>C
dbSNP
3g.122119542G=CA1397810791CD86c.*8G= (n.*8G=)
c.840G=
3g.122119543T>ACA2667228397CD86c.*9T>A (n.*9T>A)
c.841T>A
gnomAD v4
3g.122119543T>CCA2667228398CD86c.*9T>C (n.*9T>C)
c.841T>C
gnomAD v4
3g.122119544A=CA1397810797CD86c.*10A= (n.*10A=)
c.842A=
3g.122119544A>GCA2569377CD86c.*10A>G (n.*10A>G)
c.842A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122119545A>GCA2667228399CD86c.*11A>G (n.*11A>G)
c.843A>G
gnomAD v4
3g.122119546A>GCA2667228400CD86c.*12A>G (n.*12A>G)
c.844A>G
gnomAD v4
3g.122119547G>ACA2667228401CD86c.*13G>A (n.*13G>A)
c.845G>A
gnomAD v4
3g.122119547G>CCA1397810803CD86c.*13G>C (n.*13G>C)
c.845G>C
dbSNP gnomAD v4
3g.122119547G=CA1397810801CD86c.*13G= (n.*13G=)
c.845G=
3g.122119548C>ACA2667228402CD86c.*14C>A (n.*14C>A)
c.846C>A
gnomAD v4
3g.122119548C>TCA2667228403CD86c.*14C>T (n.*14C>T)
c.846C>T
gnomAD v4
3g.122119549C>ACA2577869927CD86c.*15C>A (n.*15C>A)
c.847C>A
gnomAD v4
3g.122119550C>ACA2667228404CD86c.*16C>A (n.*16C>A)
c.848C>A
gnomAD v4
3g.122119551A=CA1397810805CD86c.*17A= (n.*17A=)
c.849A=
3g.122119551A>CCA2569379CD86c.*17A>C (n.*17A>C)
c.849A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122119551A>GCA2569378CD86c.*17A>G (n.*17A>G)
c.849A>G
dbSNP ExAC gnomAD v2 gnomAD v4
3g.122119552T>ACA1397810809CD86c.*18T>A (n.*18T>A)
c.850T>A
dbSNP
3g.122119552T>CCA2667228405CD86c.*18T>C (n.*18T>C)
c.850T>C
gnomAD v4
3g.122119552T=CA1397810808CD86c.*18T= (n.*18T=)
c.850T=
3g.122119553A=CA1397810811CD86c.*19A= (n.*19A=)
c.851A=
3g.122119553A>GCA2569380CD86c.*19A>G (n.*19A>G)
c.851A>G
dbSNP ExAC gnomAD v2 gnomAD v4
3g.122119554C>ACA2577869928CD86c.*20C>A (n.*20C>A)
c.852C>A
gnomAD v4
3g.122119555A>GCA2667228406CD86c.*21A>G (n.*21A>G)
c.853A>G
gnomAD v4
3g.122119556A>GCA2667228407CD86c.*22A>G (n.*22A>G)
c.854A>G
gnomAD v4
3g.122119557G>ACA2569381CD86c.*23G>A (n.*23G>A)
c.855G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122119557G>CCA2667228408CD86c.*23G>C (n.*23G>C)
c.855G>C
gnomAD v4
3g.122119557G=CA1397810814CD86c.*23G= (n.*23G=)
c.855G=
3g.122119558T>CCA2667228409CD86c.*24T>C (n.*24T>C)
c.856T>C
gnomAD v4
3g.122119559_122119560delinsATCA1397810817CD86c.*25_*26delinsAT (n.*25_*26delinsAT)
c.857_858delinsAT
3g.122119561delCA2569382CD86c.*27del (n.*27del)
c.859del
dbSNP ExAC gnomAD v2 gnomAD v4
3g.122119561T>GCA2703867070CD86c.*27T>G (n.*27T>G)
c.859T>G
dbSNP
3g.122119562C>ACA2577869929CD86c.*28C>A (n.*28C>A)
c.860C>A
gnomAD v4
3g.122119563A=CA1397810819CD86c.*29A= (n.*29A=)
c.861A=
3g.122119564T>CCA2667228411CD86c.*30T>C (n.*30T>C)
c.862T>C
gnomAD v4
3g.122119569dupCA898116148CD86c.*35dup (n.*35dup)
c.867dup
dbSNP gnomAD v3 gnomAD v4
3g.122119569delCA2667228410CD86c.*35del (n.*35del)
c.867del
gnomAD v4
3g.122119565T>CCA545648397CD86c.*31T>C (n.*31T>C)
c.863T>C
dbSNP gnomAD v2 gnomAD v4
3g.122119565T>GCA2569383CD86c.*31T>G (n.*31T>G)
c.863T>G
dbSNP ExAC
3g.122119565T=CA1397810823CD86c.*31T= (n.*31T=)
c.863T=
3g.122119569T>GCA2569384CD86c.*35T>G (n.*35T>G)
c.867T>G
dbSNP ExAC gnomAD v2 gnomAD v4
3g.122119569T=CA1397810828CD86c.*35T= (n.*35T=)
c.867T=
3g.122119570C=CA1397810833CD86c.*36C= (n.*36C=)
c.868C=
3g.122119570C>GCA898116155CD86c.*36C>G (n.*36C>G)
c.868C>G
dbSNP
3g.122119572A=CA1397810834CD86c.*38A= (n.*38A=)
c.870A=
3g.122119572A>GCA2667228412CD86c.*38A>G (n.*38A>G)
c.870A>G
gnomAD v4
3g.122119572A>TCA2569385CD86c.*38A>T (n.*38A>T)
c.870A>T
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched