Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229431788T>ACA345145644ACTA1c.923A>T (p.Tyr308Phe)
c.788A>T (p.Tyr263Phe)
c.554A>T (p.Tyr185Phe)
1g.229431788T>CCA10575963ACTA1c.923A>G (p.Tyr308Cys)
c.788A>G (p.Tyr263Cys)
c.554A>G (p.Tyr185Cys)
 ClinVar dbSNP
1g.229431788T>GCA345145647ACTA1c.923A>C (p.Tyr308Ser)
c.788A>C (p.Tyr263Ser)
c.554A>C (p.Tyr185Ser)
1g.229431788T=CA1226125492ACTA1c.923A= (p.Tyr308=)
c.788A= (p.Tyr263=)
c.554A= (p.Tyr185=)
1g.229431789A>CCA345145649ACTA1c.922T>G (p.Tyr308Asp)
c.787T>G (p.Tyr263Asp)
c.553T>G (p.Tyr185Asp)
1g.229431789A>GCA345145651ACTA1c.922T>C (p.Tyr308His)
c.787T>C (p.Tyr263His)
c.553T>C (p.Tyr185His)
 ClinVar dbSNP
1g.229431789A>TCA345145652ACTA1c.922T>A (p.Tyr308Asn)
c.787T>A (p.Tyr263Asn)
c.553T>A (p.Tyr185Asn)
1g.229431790C>ACA345145657ACTA1c.921G>T (p.Met307Ile)
c.786G>T (p.Met262Ile)
c.552G>T (p.Met184Ile)
1g.229431790C>GCA345145658ACTA1c.921G>C (p.Met307Ile)
c.786G>C (p.Met262Ile)
c.552G>C (p.Met184Ile)
1g.229431790C>TCA345145655ACTA1c.921G>A (p.Met307Ile)
c.786G>A (p.Met262Ile)
c.552G>A (p.Met184Ile)
1g.229431791A>CCA345145661ACTA1c.920T>G (p.Met307Arg)
c.785T>G (p.Met262Arg)
c.551T>G (p.Met184Arg)
 ClinVar
1g.229431791A>GCA345145663ACTA1c.920T>C (p.Met307Thr)
c.785T>C (p.Met262Thr)
c.551T>C (p.Met184Thr)
1g.229431791A>TCA345145664ACTA1c.920T>A (p.Met307Lys)
c.785T>A (p.Met262Lys)
c.551T>A (p.Met184Lys)
1g.229431792T>ACA345145667ACTA1c.919A>T (p.Met307Leu)
c.784A>T (p.Met262Leu)
c.550A>T (p.Met184Leu)
1g.229431792T>CCA345145669ACTA1c.919A>G (p.Met307Val)
c.784A>G (p.Met262Val)
c.550A>G (p.Met184Val)
1g.229431792T>GCA345145670ACTA1c.919A>C (p.Met307Leu)
c.784A>C (p.Met262Leu)
c.550A>C (p.Met184Leu)
1g.229431793C>ACA423754999ACTA1c.918G>T (p.Thr306=)
c.783G>T (p.Thr261=)
c.549G>T (p.Thr183=)
 gnomAD v4
1g.229431793C=CA1226125493ACTA1c.918G= (p.Thr306=)
c.783G= (p.Thr261=)
c.549G= (p.Thr183=)
1g.229431793C>GCA423755001ACTA1c.918G>C (p.Thr306=)
c.783G>C (p.Thr261=)
c.549G>C (p.Thr183=)
 dbSNP gnomAD v4
1g.229431793C>TCA423755003ACTA1c.918G>A (p.Thr306=)
c.783G>A (p.Thr261=)
c.549G>A (p.Thr183=)
1g.229431794G>ACA345145671ACTA1c.917C>T (p.Thr306Met)
c.782C>T (p.Thr261Met)
c.548C>T (p.Thr183Met)
1g.229431794G>CCA1442753ACTA1c.917C>G (p.Thr306Arg)
c.782C>G (p.Thr261Arg)
c.548C>G (p.Thr183Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431794G=CA1147422018ACTA1c.917C= (p.Thr306=)
c.782C= (p.Thr261=)
c.548C= (p.Thr183=)
1g.229431794G>TCA345145673ACTA1c.917C>A (p.Thr306Lys)
c.782C>A (p.Thr261Lys)
c.548C>A (p.Thr183Lys)
1g.229431795T>ACA345145674ACTA1c.916A>T (p.Thr306Ser)
c.781A>T (p.Thr261Ser)
c.547A>T (p.Thr183Ser)
1g.229431795T>CCA345145675ACTA1c.916A>G (p.Thr306Ala)
c.781A>G (p.Thr261Ala)
c.547A>G (p.Thr183Ala)
1g.229431795T>GCA345145677ACTA1c.916A>C (p.Thr306Pro)
c.781A>C (p.Thr261Pro)
c.547A>C (p.Thr183Pro)
1g.229431796G>ACA423755010ACTA1c.915C>T (p.Thr305=)
c.780C>T (p.Thr260=)
c.546C>T (p.Thr182=)
 dbSNP
1g.229431796G>CCA423755011ACTA1c.915C>G (p.Thr305=)
c.780C>G (p.Thr260=)
c.546C>G (p.Thr182=)
 dbSNP gnomAD v2 gnomAD v4
1g.229431796G=CA1226125494ACTA1c.915C= (p.Thr305=)
c.780C= (p.Thr260=)
c.546C= (p.Thr182=)
1g.229431796G>TCA423755012ACTA1c.915C>A (p.Thr305=)
c.780C>A (p.Thr260=)
c.546C>A (p.Thr182=)
1g.229431797G>ACA345145681ACTA1c.914C>T (p.Thr305Ile)
c.779C>T (p.Thr260Ile)
c.545C>T (p.Thr182Ile)
 dbSNP gnomAD v3
1g.229431797G>CCA345145683ACTA1c.914C>G (p.Thr305Ser)
c.779C>G (p.Thr260Ser)
c.545C>G (p.Thr182Ser)
1g.229431797G>TCA345145680ACTA1c.914C>A (p.Thr305Asn)
c.779C>A (p.Thr260Asn)
c.545C>A (p.Thr182Asn)
1g.229431798T>ACA345145686ACTA1c.913A>T (p.Thr305Ser)
c.778A>T (p.Thr260Ser)
c.544A>T (p.Thr182Ser)
1g.229431798T>CCA345145687ACTA1c.913A>G (p.Thr305Ala)
c.778A>G (p.Thr260Ala)
c.544A>G (p.Thr182Ala)
 gnomAD v4
1g.229431798T>GCA345145688ACTA1c.913A>C (p.Thr305Pro)
c.778A>C (p.Thr260Pro)
c.544A>C (p.Thr182Pro)
1g.229431799G>ACA423755022ACTA1c.912C>T (p.Gly304=)
c.777C>T (p.Gly259=)
c.543C>T (p.Gly181=)
 dbSNP
1g.229431799G>CCA423755020ACTA1c.912C>G (p.Gly304=)
c.777C>G (p.Gly259=)
c.543C>G (p.Gly181=)
1g.229431799G=CA1226125495ACTA1c.912C= (p.Gly304=)
c.777C= (p.Gly259=)
c.543C= (p.Gly181=)
1g.229431799G>TCA423755023ACTA1c.912C>A (p.Gly304=)
c.777C>A (p.Gly259=)
c.543C>A (p.Gly181=)
1g.229431800C>ACA345145692ACTA1c.911G>T (p.Gly304Val)
c.776G>T (p.Gly259Val)
c.542G>T (p.Gly181Val)
1g.229431800C>GCA345145690ACTA1c.911G>C (p.Gly304Ala)
c.776G>C (p.Gly259Ala)
c.542G>C (p.Gly181Ala)
1g.229431800C>TCA345145689ACTA1c.911G>A (p.Gly304Asp)
c.776G>A (p.Gly259Asp)
c.542G>A (p.Gly181Asp)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.229431805dupCA1442754ACTA1c.911dup (p.Thr305HisfsTer9)
c.776dup (p.Thr260HisfsTer9)
c.542dup (p.Thr182HisfsTer9)
 dbSNP ExAC gnomAD v4
1g.229431805delCA423755024ACTA1c.911del (p.Gly304AlafsTer24)
c.776del (p.Gly259AlafsTer24)
c.542del (p.Gly181AlafsTer24)
 gnomAD v4 COSMIC
1g.229431801C>ACA345145695ACTA1c.910G>T (p.Gly304Cys)
c.775G>T (p.Gly259Cys)
c.541G>T (p.Gly181Cys)
1g.229431801C>GCA345145696ACTA1c.910G>C (p.Gly304Arg)
c.775G>C (p.Gly259Arg)
c.541G>C (p.Gly181Arg)
1g.229431801C>TCA345145698ACTA1c.910G>A (p.Gly304Ser)
c.775G>A (p.Gly259Ser)
c.541G>A (p.Gly181Ser)
1g.229431802C>ACA423755030ACTA1c.909G>T (p.Gly303=)
c.774G>T (p.Gly258=)
c.540G>T (p.Gly180=)
1g.229431802C=CA1226125496ACTA1c.909G= (p.Gly303=)
c.774G= (p.Gly258=)
c.540G= (p.Gly180=)
1g.229431802C>GCA423755031ACTA1c.909G>C (p.Gly303=)
c.774G>C (p.Gly258=)
c.540G>C (p.Gly180=)
1g.229431802C>TCA423755033ACTA1c.909G>A (p.Gly303=)
c.774G>A (p.Gly258=)
c.540G>A (p.Gly180=)
 dbSNP
1g.229431803C>ACA345145700ACTA1c.908G>T (p.Gly303Val)
c.773G>T (p.Gly258Val)
c.539G>T (p.Gly180Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431803C=CA1226125497ACTA1c.908G= (p.Gly303=)
c.773G= (p.Gly258=)
c.539G= (p.Gly180=)
1g.229431803C>GCA345145701ACTA1c.908G>C (p.Gly303Ala)
c.773G>C (p.Gly258Ala)
c.539G>C (p.Gly180Ala)
 dbSNP
1g.229431803C>TCA345145703ACTA1c.908G>A (p.Gly303Glu)
c.773G>A (p.Gly258Glu)
c.539G>A (p.Gly180Glu)
1g.229431804C>ACA345145711ACTA1c.907G>T (p.Gly303Trp)
c.772G>T (p.Gly258Trp)
c.538G>T (p.Gly180Trp)
1g.229431804C>GCA345145709ACTA1c.907G>C (p.Gly303Arg)
c.772G>C (p.Gly258Arg)
c.538G>C (p.Gly180Arg)
1g.229431804C>TCA345145707ACTA1c.907G>A (p.Gly303Arg)
c.772G>A (p.Gly258Arg)
c.538G>A (p.Gly180Arg)
1g.229431805C>ACA423755037ACTA1c.906G>T (p.Ser302=)
c.771G>T (p.Ser257=)
c.537G>T (p.Ser179=)
 dbSNP
1g.229431805C=CA1149104533ACTA1c.906G= (p.Ser302=)
c.771G= (p.Ser257=)
c.537G= (p.Ser179=)
1g.229431805C>GCA423755038ACTA1c.906G>C (p.Ser302=)
c.771G>C (p.Ser257=)
c.537G>C (p.Ser179=)
1g.229431805C>TCA1442755ACTA1c.906G>A (p.Ser302=)
c.771G>A (p.Ser257=)
c.537G>A (p.Ser179=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.229431806G>ACA345145722ACTA1c.905C>T (p.Ser302Leu)
c.770C>T (p.Ser257Leu)
c.536C>T (p.Ser179Leu)
 gnomAD v4
1g.229431806G>CCA345145718ACTA1c.905C>G (p.Ser302Trp)
c.770C>G (p.Ser257Trp)
c.536C>G (p.Ser179Trp)
1g.229431806G>TCA345145720ACTA1c.905C>A (p.Ser302Ter)
c.770C>A (p.Ser257Ter)
c.536C>A (p.Ser179Ter)
 gnomAD v4
1g.229431807A>CCA345145728ACTA1c.904T>G (p.Ser302Ala)
c.769T>G (p.Ser257Ala)
c.535T>G (p.Ser179Ala)
1g.229431807A>GCA345145730ACTA1c.904T>C (p.Ser302Pro)
c.769T>C (p.Ser257Pro)
c.535T>C (p.Ser179Pro)
1g.229431807A>TCA345145733ACTA1c.904T>A (p.Ser302Thr)
c.769T>A (p.Ser257Thr)
c.535T>A (p.Ser179Thr)
1g.229431808C>ACA345145736ACTA1c.903G>T (p.Met301Ile)
c.768G>T (p.Met256Ile)
c.534G>T (p.Met178Ile)
1g.229431808C>GCA345145738ACTA1c.903G>C (p.Met301Ile)
c.768G>C (p.Met256Ile)
c.534G>C (p.Met178Ile)
1g.229431808C>TCA345145741ACTA1c.903G>A (p.Met301Ile)
c.768G>A (p.Met256Ile)
c.534G>A (p.Met178Ile)
1g.229431809A>CCA345145742ACTA1c.902T>G (p.Met301Arg)
c.767T>G (p.Met256Arg)
c.533T>G (p.Met178Arg)
1g.229431809A>GCA345145744ACTA1c.902T>C (p.Met301Thr)
c.767T>C (p.Met256Thr)
c.533T>C (p.Met178Thr)
1g.229431809A>TCA345145746ACTA1c.902T>A (p.Met301Lys)
c.767T>A (p.Met256Lys)
c.533T>A (p.Met178Lys)
1g.229431810T>ACA345145754ACTA1c.901A>T (p.Met301Leu)
c.766A>T (p.Met256Leu)
c.532A>T (p.Met178Leu)
1g.229431810T>CCA345145752ACTA1c.901A>G (p.Met301Val)
c.766A>G (p.Met256Val)
c.532A>G (p.Met178Val)
1g.229431810T>GCA345145750ACTA1c.901A>C (p.Met301Leu)
c.766A>C (p.Met256Leu)
c.532A>C (p.Met178Leu)
 dbSNP
1g.229431810T=CA1226125498ACTA1c.901A= (p.Met301=)
c.766A= (p.Met256=)
c.532A= (p.Met178=)
1g.229431811G>ACA423754856ACTA1c.900C>T (p.Val300=)
c.765C>T (p.Val255=)
c.531C>T (p.Val177=)
1g.229431811G>CCA423754854ACTA1c.900C>G (p.Val300=)
c.765C>G (p.Val255=)
c.531C>G (p.Val177=)
1g.229431811G>TCA423754855ACTA1c.900C>A (p.Val300=)
c.765C>A (p.Val255=)
c.531C>A (p.Val177=)
1g.229431812A>CCA345145757ACTA1c.899T>G (p.Val300Gly)
c.764T>G (p.Val255Gly)
c.530T>G (p.Val177Gly)
1g.229431812A>GCA345145760ACTA1c.899T>C (p.Val300Ala)
c.764T>C (p.Val255Ala)
c.530T>C (p.Val177Ala)
1g.229431812A>TCA345145763ACTA1c.899T>A (p.Val300Asp)
c.764T>A (p.Val255Asp)
c.530T>A (p.Val177Asp)
1g.229431813C>ACA345145766ACTA1c.898G>T (p.Val300Phe)
c.763G>T (p.Val255Phe)
c.529G>T (p.Val177Phe)
 ClinVar dbSNP
1g.229431813C=CA1226125499ACTA1c.898G= (p.Val300=)
c.763G= (p.Val255=)
c.529G= (p.Val177=)
1g.229431813C>GCA345145768ACTA1c.898G>C (p.Val300Leu)
c.763G>C (p.Val255Leu)
c.529G>C (p.Val177Leu)
 gnomAD v4
1g.229431813C>TCA345145771ACTA1c.898G>A (p.Val300Ile)
c.763G>A (p.Val255Ile)
c.529G>A (p.Val177Ile)
1g.229431814G>ACA38815125ACTA1c.897C>T (p.Asn299=)
c.762C>T (p.Asn254=)
c.528C>T (p.Asn176=)
 dbSNP COSMIC
1g.229431814G>CCA345145774ACTA1c.897C>G (p.Asn299Lys)
c.762C>G (p.Asn254Lys)
c.528C>G (p.Asn176Lys)
1g.229431814G=CA1144738415ACTA1c.897C= (p.Asn299=)
c.762C= (p.Asn254=)
c.528C= (p.Asn176=)
1g.229431814G>TCA345145777ACTA1c.897C>A (p.Asn299Lys)
c.762C>A (p.Asn254Lys)
c.528C>A (p.Asn176Lys)
 ClinVar dbSNP
1g.229431815T>ACA345145781ACTA1c.896A>T (p.Asn299Ile)
c.761A>T (p.Asn254Ile)
c.527A>T (p.Asn176Ile)
1g.229431815T>CCA345145783ACTA1c.896A>G (p.Asn299Ser)
c.761A>G (p.Asn254Ser)
c.527A>G (p.Asn176Ser)
1g.229431815T>GCA345145785ACTA1c.896A>C (p.Asn299Thr)
c.761A>C (p.Asn254Thr)
c.527A>C (p.Asn176Thr)
1g.229431816T>ACA345145790ACTA1c.895A>T (p.Asn299Tyr)
c.760A>T (p.Asn254Tyr)
c.526A>T (p.Asn176Tyr)
1g.229431816T>CCA345145792ACTA1c.895A>G (p.Asn299Asp)
c.760A>G (p.Asn254Asp)
c.526A>G (p.Asn176Asp)
1g.229431816T>GCA345145788ACTA1c.895A>C (p.Asn299His)
c.760A>C (p.Asn254His)
c.526A>C (p.Asn176His)
1g.229431817G>ACA423754860ACTA1c.894C>T (p.Asn298=)
c.759C>T (p.Asn253=)
c.525C>T (p.Asn175=)
1g.229431817G>CCA345145795ACTA1c.894C>G (p.Asn298Lys)
c.759C>G (p.Asn253Lys)
c.525C>G (p.Asn175Lys)
1g.229431817G>TCA345145797ACTA1c.894C>A (p.Asn298Lys)
c.759C>A (p.Asn253Lys)
c.525C>A (p.Asn175Lys)
1g.229431818T>ACA345145802ACTA1c.893A>T (p.Asn298Ile)
c.758A>T (p.Asn253Ile)
c.524A>T (p.Asn175Ile)
1g.229431818T>CCA345145804ACTA1c.893A>G (p.Asn298Ser)
c.758A>G (p.Asn253Ser)
c.524A>G (p.Asn175Ser)
1g.229431818T>GCA345145805ACTA1c.893A>C (p.Asn298Thr)
c.758A>C (p.Asn253Thr)
c.524A>C (p.Asn175Thr)
1g.229431819T>ACA345145808ACTA1c.892A>T (p.Asn298Tyr)
c.757A>T (p.Asn253Tyr)
c.523A>T (p.Asn175Tyr)
1g.229431819T>CCA345145810ACTA1c.892A>G (p.Asn298Asp)
c.757A>G (p.Asn253Asp)
c.523A>G (p.Asn175Asp)
1g.229431819T>GCA345145812ACTA1c.892A>C (p.Asn298His)
c.757A>C (p.Asn253His)
c.523A>C (p.Asn175His)
1g.229431820G>ACA423754861ACTA1c.891C>T (p.Ala297=)
c.756C>T (p.Ala252=)
c.522C>T (p.Ala174=)
1g.229431820G>CCA38815130ACTA1c.891C>G (p.Ala297=)
c.756C>G (p.Ala252=)
c.522C>G (p.Ala174=)
 dbSNP gnomAD v4
1g.229431820G=CA1145775424ACTA1c.891C= (p.Ala297=)
c.756C= (p.Ala252=)
c.522C= (p.Ala174=)
1g.229431820G>TCA423754863ACTA1c.891C>A (p.Ala297=)
c.756C>A (p.Ala252=)
c.522C>A (p.Ala174=)
1g.229431821G>ACA345145817ACTA1c.890C>T (p.Ala297Val)
c.755C>T (p.Ala252Val)
c.521C>T (p.Ala174Val)
1g.229431821G>CCA345145820ACTA1c.890C>G (p.Ala297Gly)
c.755C>G (p.Ala252Gly)
c.521C>G (p.Ala174Gly)
 gnomAD v4
1g.229431821G>TCA345145822ACTA1c.890C>A (p.Ala297Asp)
c.755C>A (p.Ala252Asp)
c.521C>A (p.Ala174Asp)
1g.229431822C>ACA345145826ACTA1c.889G>T (p.Ala297Ser)
c.754G>T (p.Ala252Ser)
c.520G>T (p.Ala174Ser)
1g.229431822C>GCA345145829ACTA1c.889G>C (p.Ala297Pro)
c.754G>C (p.Ala252Pro)
c.520G>C (p.Ala174Pro)
1g.229431822C>TCA345145824ACTA1c.889G>A (p.Ala297Thr)
c.754G>A (p.Ala252Thr)
c.520G>A (p.Ala174Thr)
 ClinVar
1g.229431823A=CA1226125500ACTA1c.888T= (p.Tyr296=)
c.753T= (p.Tyr251=)
c.519T= (p.Tyr173=)
1g.229431823A>CCA345145832ACTA1c.888T>G (p.Tyr296Ter)
c.753T>G (p.Tyr251Ter)
c.519T>G (p.Tyr173Ter)
1g.229431823A>GCA1442756ACTA1c.888T>C (p.Tyr296=)
c.753T>C (p.Tyr251=)
c.519T>C (p.Tyr173=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431823A>TCA345145835ACTA1c.888T>A (p.Tyr296Ter)
c.753T>A (p.Tyr251Ter)
c.519T>A (p.Tyr173Ter)
1g.229431824T>ACA1442757ACTA1c.887A>T (p.Tyr296Phe)
c.752A>T (p.Tyr251Phe)
c.518A>T (p.Tyr173Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431824T>CCA345145840ACTA1c.887A>G (p.Tyr296Cys)
c.752A>G (p.Tyr251Cys)
c.518A>G (p.Tyr173Cys)
1g.229431824T>GCA345145843ACTA1c.887A>C (p.Tyr296Ser)
c.752A>C (p.Tyr251Ser)
c.518A>C (p.Tyr173Ser)
1g.229431824T=CA1226125501ACTA1c.887A= (p.Tyr296=)
c.752A= (p.Tyr251=)
c.518A= (p.Tyr173=)
1g.229431825A>CCA345145845ACTA1c.886T>G (p.Tyr296Asp)
c.751T>G (p.Tyr251Asp)
c.517T>G (p.Tyr173Asp)
1g.229431825A>GCA345145849ACTA1c.886T>C (p.Tyr296His)
c.751T>C (p.Tyr251His)
c.517T>C (p.Tyr173His)
 COSMIC
1g.229431825A>TCA345145847ACTA1c.886T>A (p.Tyr296Asn)
c.751T>A (p.Tyr251Asn)
c.517T>A (p.Tyr173Asn)
1g.229431826C>ACA423754868ACTA1c.885G>T (p.Leu295=)
c.750G>T (p.Leu250=)
c.516G>T (p.Leu172=)
 COSMIC
1g.229431826C=CA1226125502ACTA1c.885G= (p.Leu295=)
c.750G= (p.Leu250=)
c.516G= (p.Leu172=)
1g.229431826C>GCA423754869ACTA1c.885G>C (p.Leu295=)
c.750G>C (p.Leu250=)
c.516G>C (p.Leu172=)
 gnomAD v4
1g.229431826C>TCA423754870ACTA1c.885G>A (p.Leu295=)
c.750G>A (p.Leu250=)
c.516G>A (p.Leu172=)
 dbSNP gnomAD v2
1g.229431827A>CCA345145852ACTA1c.884T>G (p.Leu295Arg)
c.749T>G (p.Leu250Arg)
c.515T>G (p.Leu172Arg)
1g.229431827A>GCA345145854ACTA1c.884T>C (p.Leu295Pro)
c.749T>C (p.Leu250Pro)
c.515T>C (p.Leu172Pro)
1g.229431827A>TCA345145857ACTA1c.884T>A (p.Leu295Gln)
c.749T>A (p.Leu250Gln)
c.515T>A (p.Leu172Gln)
1g.229431828G>ACA423754871ACTA1c.883C>T (p.Leu295=)
c.748C>T (p.Leu250=)
c.514C>T (p.Leu172=)
 dbSNP
1g.229431828G>CCA345145861ACTA1c.883C>G (p.Leu295Val)
c.748C>G (p.Leu250Val)
c.514C>G (p.Leu172Val)
 dbSNP
1g.229431828G=CA1226125503ACTA1c.883C= (p.Leu295=)
c.748C= (p.Leu250=)
c.514C= (p.Leu172=)
1g.229431828G>TCA345145863ACTA1c.883C>A (p.Leu295Met)
c.748C>A (p.Leu250Met)
c.514C>A (p.Leu172Met)
1g.229431829G>ACA1442758ACTA1c.882C>T (p.Asp294=)
c.747C>T (p.Asp249=)
c.513C>T (p.Asp171=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431829G>CCA345145875ACTA1c.882C>G (p.Asp294Glu)
c.747C>G (p.Asp249Glu)
c.513C>G (p.Asp171Glu)
1g.229431829G=CA1148281720ACTA1c.882C= (p.Asp294=)
c.747C= (p.Asp249=)
c.513C= (p.Asp171=)
1g.229431829G>TCA345145866ACTA1c.882C>A (p.Asp294Glu)
c.747C>A (p.Asp249Glu)
c.513C>A (p.Asp171Glu)
1g.229431830T>ACA341495ACTA1c.881A>T (p.Asp294Val)
c.746A>T (p.Asp249Val)
c.512A>T (p.Asp171Val)
 ClinVar dbSNP
1g.229431830T>CCA345145880ACTA1c.881A>G (p.Asp294Gly)
c.746A>G (p.Asp249Gly)
c.512A>G (p.Asp171Gly)
1g.229431830T>GCA345145883ACTA1c.881A>C (p.Asp294Ala)
c.746A>C (p.Asp249Ala)
c.512A>C (p.Asp171Ala)
1g.229431830T=CA1141581373ACTA1c.881A= (p.Asp294=)
c.746A= (p.Asp249=)
c.512A= (p.Asp171=)
1g.229431831C>ACA345145886ACTA1c.880G>T (p.Asp294Tyr)
c.745G>T (p.Asp249Tyr)
c.511G>T (p.Asp171Tyr)
 ClinVar
1g.229431831C>GCA345145889ACTA1c.880G>C (p.Asp294His)
c.745G>C (p.Asp249His)
c.511G>C (p.Asp171His)
1g.229431831C>TCA345145892ACTA1c.880G>A (p.Asp294Asn)
c.745G>A (p.Asp249Asn)
c.511G>A (p.Asp171Asn)
 COSMIC
1g.229431832C>ACA345145895ACTA1c.879G>T (p.Lys293Asn)
c.744G>T (p.Lys248Asn)
c.510G>T (p.Lys170Asn)
1g.229431832C>GCA345145896ACTA1c.879G>C (p.Lys293Asn)
c.744G>C (p.Lys248Asn)
c.510G>C (p.Lys170Asn)
1g.229431832C>TCA423754873ACTA1c.879G>A (p.Lys293=)
c.744G>A (p.Lys248=)
c.510G>A (p.Lys170=)
1g.229431833T>ACA345145899ACTA1c.878A>T (p.Lys293Met)
c.743A>T (p.Lys248Met)
c.509A>T (p.Lys170Met)
1g.229431833T>CCA345145901ACTA1c.878A>G (p.Lys293Arg)
c.743A>G (p.Lys248Arg)
c.509A>G (p.Lys170Arg)
1g.229431833T>GCA345145903ACTA1c.878A>C (p.Lys293Thr)
c.743A>C (p.Lys248Thr)
c.509A>C (p.Lys170Thr)
1g.229431834T>ACA345145906ACTA1c.877A>T (p.Lys293Ter)
c.742A>T (p.Lys248Ter)
c.508A>T (p.Lys170Ter)
1g.229431834T>CCA345145908ACTA1c.877A>G (p.Lys293Glu)
c.742A>G (p.Lys248Glu)
c.508A>G (p.Lys170Glu)
1g.229431834T>GCA345145910ACTA1c.877A>C (p.Lys293Gln)
c.742A>C (p.Lys248Gln)
c.508A>C (p.Lys170Gln)
1g.229431835C>ACA345145916ACTA1c.876G>T (p.Arg292Ser)
c.741G>T (p.Arg247Ser)
c.507G>T (p.Arg169Ser)
 dbSNP
1g.229431835C=CA1226125504ACTA1c.876G= (p.Arg292=)
c.741G= (p.Arg247=)
c.507G= (p.Arg169=)
1g.229431835C>GCA345145914ACTA1c.876G>C (p.Arg292Ser)
c.741G>C (p.Arg247Ser)
c.507G>C (p.Arg169Ser)
1g.229431835C>TCA423754876ACTA1c.876G>A (p.Arg292=)
c.741G>A (p.Arg247=)
c.507G>A (p.Arg169=)
1g.229431836C>ACA345145919ACTA1c.875G>T (p.Arg292Met)
c.740G>T (p.Arg247Met)
c.506G>T (p.Arg169Met)
1g.229431836C>GCA345145921ACTA1c.875G>C (p.Arg292Thr)
c.740G>C (p.Arg247Thr)
c.506G>C (p.Arg169Thr)
1g.229431836C>TCA345145923ACTA1c.875G>A (p.Arg292Lys)
c.740G>A (p.Arg247Lys)
c.506G>A (p.Arg169Lys)
 ClinVar
1g.229431837T>ACA345145926ACTA1c.874A>T (p.Arg292Trp)
c.739A>T (p.Arg247Trp)
c.505A>T (p.Arg169Trp)
1g.229431837T>CCA345145928ACTA1c.874A>G (p.Arg292Gly)
c.739A>G (p.Arg247Gly)
c.505A>G (p.Arg169Gly)
1g.229431837T>GCA423754877ACTA1c.874A>C (p.Arg292=)
c.739A>C (p.Arg247=)
c.505A>C (p.Arg169=)
 dbSNP
1g.229431837T=CA1226125505ACTA1c.874A= (p.Arg292=)
c.739A= (p.Arg247=)
c.505A= (p.Arg169=)
1g.229431838G>ACA423754878ACTA1c.873C>T (p.Ile291=)
c.738C>T (p.Ile246=)
c.504C>T (p.Ile168=)
1g.229431838G>CCA345145930ACTA1c.873C>G (p.Ile291Met)
c.738C>G (p.Ile246Met)
c.504C>G (p.Ile168Met)
1g.229431838G>TCA423754879ACTA1c.873C>A (p.Ile291=)
c.738C>A (p.Ile246=)
c.504C>A (p.Ile168=)
1g.229431839A>CCA345145937ACTA1c.872T>G (p.Ile291Ser)
c.737T>G (p.Ile246Ser)
c.503T>G (p.Ile168Ser)
1g.229431839A>GCA345145933ACTA1c.872T>C (p.Ile291Thr)
c.737T>C (p.Ile246Thr)
c.503T>C (p.Ile168Thr)
1g.229431839A>TCA345145935ACTA1c.872T>A (p.Ile291Asn)
c.737T>A (p.Ile246Asn)
c.503T>A (p.Ile168Asn)
1g.229431840T>ACA345145941ACTA1c.871A>T (p.Ile291Phe)
c.736A>T (p.Ile246Phe)
c.502A>T (p.Ile168Phe)
1g.229431840T>CCA345145943ACTA1c.871A>G (p.Ile291Val)
c.736A>G (p.Ile246Val)
c.502A>G (p.Ile168Val)
1g.229431840T>GCA345145946ACTA1c.871A>C (p.Ile291Leu)
c.736A>C (p.Ile246Leu)
c.502A>C (p.Ile168Leu)
1g.229431841G>ACA423754880ACTA1c.870C>T (p.Asp290=)
c.735C>T (p.Asp245=)
c.501C>T (p.Asp167=)
1g.229431841G>CCA345145948ACTA1c.870C>G (p.Asp290Glu)
c.735C>G (p.Asp245Glu)
c.501C>G (p.Asp167Glu)
1g.229431841G>TCA345145950ACTA1c.870C>A (p.Asp290Glu)
c.735C>A (p.Asp245Glu)
c.501C>A (p.Asp167Glu)
1g.229431842T>ACA345145956ACTA1c.869A>T (p.Asp290Val)
c.734A>T (p.Asp245Val)
c.500A>T (p.Asp167Val)
1g.229431842T>CCA345145953ACTA1c.869A>G (p.Asp290Gly)
c.734A>G (p.Asp245Gly)
c.500A>G (p.Asp167Gly)
1g.229431842T>GCA345145954ACTA1c.869A>C (p.Asp290Ala)
c.734A>C (p.Asp245Ala)
c.500A>C (p.Asp167Ala)
1g.229431843C>ACA345145959ACTA1c.868G>T (p.Asp290Tyr)
c.733G>T (p.Asp245Tyr)
c.499G>T (p.Asp167Tyr)
1g.229431843C=CA1226125506ACTA1c.868G= (p.Asp290=)
c.733G= (p.Asp245=)
c.499G= (p.Asp167=)
1g.229431843C>GCA345145962ACTA1c.868G>C (p.Asp290His)
c.733G>C (p.Asp245His)
c.499G>C (p.Asp167His)
 ClinVar dbSNP
1g.229431843C>TCA345145964ACTA1c.868G>A (p.Asp290Asn)
c.733G>A (p.Asp245Asn)
c.499G>A (p.Asp167Asn)
 ClinVar COSMIC
1g.229431844G>ACA208117ACTA1c.867C>T (p.Ile289=)
c.732C>T (p.Ile244=)
c.498C>T (p.Ile166=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431844G>CCA345145967ACTA1c.867C>G (p.Ile289Met)
c.732C>G (p.Ile244Met)
c.498C>G (p.Ile166Met)
1g.229431844G=CA1141720053ACTA1c.867C= (p.Ile289=)
c.732C= (p.Ile244=)
c.498C= (p.Ile166=)
1g.229431844G>TCA423754881ACTA1c.867C>A (p.Ile289=)
c.732C>A (p.Ile244=)
c.498C>A (p.Ile166=)
1g.229431845A=CA1226125507ACTA1c.866T= (p.Ile289=)
c.731T= (p.Ile244=)
c.497T= (p.Ile166=)
1g.229431845A>CCA345145969ACTA1c.866T>G (p.Ile289Ser)
c.731T>G (p.Ile244Ser)
c.497T>G (p.Ile166Ser)
1g.229431845A>GCA345145971ACTA1c.866T>C (p.Ile289Thr)
c.731T>C (p.Ile244Thr)
c.497T>C (p.Ile166Thr)
1g.229431845A>TCA345145973ACTA1c.866T>A (p.Ile289Asn)
c.731T>A (p.Ile244Asn)
c.497T>A (p.Ile166Asn)
 ClinVar dbSNP
1g.229431846T>ACA345145977ACTA1c.865A>T (p.Ile289Phe)
c.730A>T (p.Ile244Phe)
c.496A>T (p.Ile166Phe)
1g.229431846T>CCA345145979ACTA1c.865A>G (p.Ile289Val)
c.730A>G (p.Ile244Val)
c.496A>G (p.Ile166Val)
 gnomAD v4
1g.229431846T>GCA345145981ACTA1c.865A>C (p.Ile289Leu)
c.730A>C (p.Ile244Leu)
c.496A>C (p.Ile166Leu)
1g.229431847G>ACA423754882ACTA1c.864C>T (p.Asp288=)
c.729C>T (p.Asp243=)
c.495C>T (p.Asp165=)
 gnomAD v4
1g.229431847G>CCA345145984ACTA1c.864C>G (p.Asp288Glu)
c.729C>G (p.Asp243Glu)
c.495C>G (p.Asp165Glu)
1g.229431847G>TCA345145986ACTA1c.864C>A (p.Asp288Glu)
c.729C>A (p.Asp243Glu)
c.495C>A (p.Asp165Glu)
1g.229431848T>ACA345145993ACTA1c.863A>T (p.Asp288Val)
c.728A>T (p.Asp243Val)
c.494A>T (p.Asp165Val)
1g.229431848T>CCA345145991ACTA1c.863A>G (p.Asp288Gly)
c.728A>G (p.Asp243Gly)
c.494A>G (p.Asp165Gly)
 ClinVar
1g.229431848T>GCA345145989ACTA1c.863A>C (p.Asp288Ala)
c.728A>C (p.Asp243Ala)
c.494A>C (p.Asp165Ala)
1g.229431849C>ACA345145995ACTA1c.862G>T (p.Asp288Tyr)
c.727G>T (p.Asp243Tyr)
c.493G>T (p.Asp165Tyr)
1g.229431849C>GCA345145997ACTA1c.862G>C (p.Asp288His)
c.727G>C (p.Asp243His)
c.493G>C (p.Asp165His)
1g.229431849C>TCA345145999ACTA1c.862G>A (p.Asp288Asn)
c.727G>A (p.Asp243Asn)
c.493G>A (p.Asp165Asn)
1g.229431850A=CA1226125508ACTA1c.861T= (p.Cys287=)
c.726T= (p.Cys242=)
c.492T= (p.Cys164=)
1g.229431850A>CCA345146000ACTA1c.861T>G (p.Cys287Trp)
c.726T>G (p.Cys242Trp)
c.492T>G (p.Cys164Trp)
1g.229431850A>GCA423754883ACTA1c.861T>C (p.Cys287=)
c.726T>C (p.Cys242=)
c.492T>C (p.Cys164=)
 dbSNP
1g.229431850A>TCA345146001ACTA1c.861T>A (p.Cys287Ter)
c.726T>A (p.Cys242Ter)
c.492T>A (p.Cys164Ter)
1g.229431851delCA2650926598ACTA1c.860del (p.Cys287LeufsTer?)
c.725del (p.Cys242LeufsTer?)
c.491del (p.Cys164LeufsTer?)
 gnomAD v4
1g.229431851C>ACA345146002ACTA1c.860G>T (p.Cys287Phe)
c.725G>T (p.Cys242Phe)
c.491G>T (p.Cys164Phe)
1g.229431851C>GCA345146003ACTA1c.860G>C (p.Cys287Ser)
c.725G>C (p.Cys242Ser)
c.491G>C (p.Cys164Ser)
1g.229431851C>TCA345146004ACTA1c.860G>A (p.Cys287Tyr)
c.725G>A (p.Cys242Tyr)
c.491G>A (p.Cys164Tyr)
 gnomAD v4
1g.229431852A>CCA345146005ACTA1c.859T>G (p.Cys287Gly)
c.724T>G (p.Cys242Gly)
c.490T>G (p.Cys164Gly)
1g.229431852A>GCA345146006ACTA1c.859T>C (p.Cys287Arg)
c.724T>C (p.Cys242Arg)
c.490T>C (p.Cys164Arg)
1g.229431852A>TCA345146007ACTA1c.859T>A (p.Cys287Ser)
c.724T>A (p.Cys242Ser)
c.490T>A (p.Cys164Ser)
1g.229431853C>ACA345146009ACTA1c.858G>T (p.Lys286Asn)
c.723G>T (p.Lys241Asn)
c.489G>T (p.Lys163Asn)
1g.229431853C=CA1226125509ACTA1c.858G= (p.Lys286=)
c.723G= (p.Lys241=)
c.489G= (p.Lys163=)
1g.229431853C>GCA345146010ACTA1c.858G>C (p.Lys286Asn)
c.723G>C (p.Lys241Asn)
c.489G>C (p.Lys163Asn)
 gnomAD v4
1g.229431853C>TCA423754884ACTA1c.858G>A (p.Lys286=)
c.723G>A (p.Lys241=)
c.489G>A (p.Lys163=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431854T>ACA345146015ACTA1c.857A>T (p.Lys286Met)
c.722A>T (p.Lys241Met)
c.488A>T (p.Lys163Met)
1g.229431854T>CCA345146017ACTA1c.857A>G (p.Lys286Arg)
c.722A>G (p.Lys241Arg)
c.488A>G (p.Lys163Arg)
 gnomAD v4
1g.229431854T>GCA345146013ACTA1c.857A>C (p.Lys286Thr)
c.722A>C (p.Lys241Thr)
c.488A>C (p.Lys163Thr)
1g.229431855T>ACA345146020ACTA1c.856A>T (p.Lys286Ter)
c.721A>T (p.Lys241Ter)
c.487A>T (p.Lys163Ter)
1g.229431855T>CCA345146024ACTA1c.856A>G (p.Lys286Glu)
c.721A>G (p.Lys241Glu)
c.487A>G (p.Lys163Glu)
1g.229431855T>GCA345146022ACTA1c.856A>C (p.Lys286Gln)
c.721A>C (p.Lys241Gln)
c.487A>C (p.Lys163Gln)
1g.229431856C>ACA345146026ACTA1c.855G>T (p.Met285Ile)
c.720G>T (p.Met240Ile)
c.486G>T (p.Met162Ile)
1g.229431856C>GCA345146028ACTA1c.855G>C (p.Met285Ile)
c.720G>C (p.Met240Ile)
c.486G>C (p.Met162Ile)
1g.229431856C>TCA345146030ACTA1c.855G>A (p.Met285Ile)
c.720G>A (p.Met240Ile)
c.486G>A (p.Met162Ile)
1g.229431857A>CCA345146033ACTA1c.854T>G (p.Met285Arg)
c.719T>G (p.Met240Arg)
c.485T>G (p.Met162Arg)
 ClinVar
1g.229431857A>GCA345146036ACTA1c.854T>C (p.Met285Thr)
c.719T>C (p.Met240Thr)
c.485T>C (p.Met162Thr)
1g.229431857A>TCA345146037ACTA1c.854T>A (p.Met285Lys)
c.719T>A (p.Met240Lys)
c.485T>A (p.Met162Lys)
1g.229431858T>ACA345146040ACTA1c.853A>T (p.Met285Leu)
c.718A>T (p.Met240Leu)
c.484A>T (p.Met162Leu)
1g.229431858T>CCA345146043ACTA1c.853A>G (p.Met285Val)
c.718A>G (p.Met240Val)
c.484A>G (p.Met162Val)
1g.229431858T>GCA345146045ACTA1c.853A>C (p.Met285Leu)
c.718A>C (p.Met240Leu)
c.484A>C (p.Met162Leu)
1g.229431859G>ACA423754885ACTA1c.852C>T (p.Ile284=)
c.717C>T (p.Ile239=)
c.483C>T (p.Ile161=)
 gnomAD v4
1g.229431859G>CCA345146048ACTA1c.852C>G (p.Ile284Met)
c.717C>G (p.Ile239Met)
c.483C>G (p.Ile161Met)
1g.229431859G=CA1226125510ACTA1c.852C= (p.Ile284=)
c.717C= (p.Ile239=)
c.483C= (p.Ile161=)
1g.229431859G>TCA423754886ACTA1c.852C>A (p.Ile284=)
c.717C>A (p.Ile239=)
c.483C>A (p.Ile161=)
 dbSNP
1g.229431860A>CCA345146051ACTA1c.851T>G (p.Ile284Ser)
c.716T>G (p.Ile239Ser)
c.482T>G (p.Ile161Ser)
1g.229431860A>GCA345146053ACTA1c.851T>C (p.Ile284Thr)
c.716T>C (p.Ile239Thr)
c.482T>C (p.Ile161Thr)
1g.229431860A>TCA345146055ACTA1c.851T>A (p.Ile284Asn)
c.716T>A (p.Ile239Asn)
c.482T>A (p.Ile161Asn)
1g.229431861T>ACA345146058ACTA1c.850A>T (p.Ile284Phe)
c.715A>T (p.Ile239Phe)
c.481A>T (p.Ile161Phe)
1g.229431861T>CCA345146063ACTA1c.850A>G (p.Ile284Val)
c.715A>G (p.Ile239Val)
c.481A>G (p.Ile161Val)
1g.229431861T>GCA345146061ACTA1c.850A>C (p.Ile284Leu)
c.715A>C (p.Ile239Leu)
c.481A>C (p.Ile161Leu)
1g.229431862G>ACA423754887ACTA1c.849C>T (p.Ser283=)
c.714C>T (p.Ser238=)
c.480C>T (p.Gly160=)
1g.229431862G>CCA345146066ACTA1c.849C>G (p.Ser283Arg)
c.714C>G (p.Ser238Arg)
c.480C>G (p.Gly160=)
1g.229431862G>TCA345146068ACTA1c.849C>A (p.Ser283Arg)
c.714C>A (p.Ser238Arg)
c.480C>A (p.Gly160=)
1g.229431863C>ACA345146072ACTA1c.848G>T (p.Ser283Ile)
c.713G>T (p.Ser238Ile)
c.480-1G>T (n.480-1G>T)
1g.229431863C>GCA345146074ACTA1c.848G>C (p.Ser283Thr)
c.713G>C (p.Ser238Thr)
c.480-1G>C (n.480-1G>C)
1g.229431863C>TCA345146077ACTA1c.848G>A (p.Ser283Asn)
c.713G>A (p.Ser238Asn)
c.480-1G>A (n.480-1G>A)
1g.229431864T>ACA345146080ACTA1c.847A>T (p.Ser283Cys)
c.712A>T (p.Ser238Cys)
c.480-2A>T (n.480-2A>T)
1g.229431864T>CCA345146082ACTA1c.847A>G (p.Ser283Gly)
c.712A>G (p.Ser238Gly)
c.480-2A>G (n.480-2A>G)
1g.229431864T>GCA345146085ACTA1c.847A>C (p.Ser283Arg)
c.712A>C (p.Ser238Arg)
c.480-2A>C (n.480-2A>C)
1g.229431865G>ACA423754888ACTA1c.846C>T (p.Asn282=)
c.711C>T (p.Asn237=)
c.480-3C>T (n.480-3C>T)
1g.229431865G>CCA345146088ACTA1c.846C>G (p.Asn282Lys)
c.711C>G (p.Asn237Lys)
c.480-3C>G (n.480-3C>G)
 ClinVar dbSNP
1g.229431865G>TCA345146090ACTA1c.846C>A (p.Asn282Lys)
c.711C>A (p.Asn237Lys)
c.480-3C>A (n.480-3C>A)
1g.229431866T>ACA345146100ACTA1c.845A>T (p.Asn282Ile)
c.710A>T (p.Asn237Ile)
c.480-4A>T (n.480-4A>T)
1g.229431866T>CCA345146097ACTA1c.845A>G (p.Asn282Ser)
c.710A>G (p.Asn237Ser)
c.480-4A>G (n.480-4A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.229431866T>GCA345146094ACTA1c.845A>C (p.Asn282Thr)
c.710A>C (p.Asn237Thr)
c.480-4A>C (n.480-4A>C)
1g.229431866T=CA1226125511ACTA1c.845A= (p.Asn282=)
c.710A= (p.Asn237=)
c.480-4A= (n.480-4A=)
1g.229431867T>ACA345146102ACTA1c.844A>T (p.Asn282Tyr)
c.709A>T (p.Asn237Tyr)
c.480-5A>T (n.480-5A>T)
1g.229431867T>CCA345146104ACTA1c.844A>G (p.Asn282Asp)
c.709A>G (p.Asn237Asp)
c.480-5A>G (n.480-5A>G)
1g.229431867T>GCA345146107ACTA1c.844A>C (p.Asn282His)
c.709A>C (p.Asn237His)
c.480-5A>C (n.480-5A>C)
 ClinVar
1g.229431868G>ACA423754889ACTA1c.843C>T (p.Tyr281=)
c.708C>T (p.Tyr236=)
c.480-6C>T (n.480-6C>T)
 dbSNP
1g.229431868G>CCA345146110ACTA1c.843C>G (p.Tyr281Ter)
c.708C>G (p.Tyr236Ter)
c.480-6C>G (n.480-6C>G)
1g.229431868G=CA1226125512ACTA1c.843C= (p.Tyr281=)
c.708C= (p.Tyr236=)
c.480-6C= (n.480-6C=)
1g.229431868G>TCA345146112ACTA1c.843C>A (p.Tyr281Ter)
c.708C>A (p.Tyr236Ter)
c.480-6C>A (n.480-6C>A)
1g.229431869T>ACA345146121ACTA1c.842A>T (p.Tyr281Phe)
c.707A>T (p.Tyr236Phe)
c.480-7A>T (n.480-7A>T)
1g.229431869T>CCA345146119ACTA1c.842A>G (p.Tyr281Cys)
c.707A>G (p.Tyr236Cys)
c.480-7A>G (n.480-7A>G)
 ClinVar dbSNP
1g.229431869T>GCA345146116ACTA1c.842A>C (p.Tyr281Ser)
c.707A>C (p.Tyr236Ser)
c.480-7A>C (n.480-7A>C)
1g.229431869T=CA1226125513ACTA1c.842A= (p.Tyr281=)
c.707A= (p.Tyr236=)
c.480-7A= (n.480-7A=)
1g.229431870A>CCA345146123ACTA1c.841T>G (p.Tyr281Asp)
c.706T>G (p.Tyr236Asp)
c.480-8T>G (n.480-8T>G)
1g.229431870A>GCA345146125ACTA1c.841T>C (p.Tyr281His)
c.706T>C (p.Tyr236His)
c.480-8T>C (n.480-8T>C)
 ClinVar dbSNP
1g.229431870A>TCA345146127ACTA1c.841T>A (p.Tyr281Asn)
c.706T>A (p.Tyr236Asn)
c.480-8T>A (n.480-8T>A)
1g.229431871G>ACA423754893ACTA1c.840C>T (p.Thr280=)
c.705C>T (p.Thr235=)
c.480-9C>T (n.480-9C>T)
 dbSNP
1g.229431871G>CCA423754892ACTA1c.840C>G (p.Thr280=)
c.705C>G (p.Thr235=)
c.480-9C>G (n.480-9C>G)
1g.229431871G=CA1226125514ACTA1c.840C= (p.Thr280=)
c.705C= (p.Thr235=)
c.480-9C= (n.480-9C=)
1g.229431871G>TCA423754891ACTA1c.840C>A (p.Thr280=)
c.705C>A (p.Thr235=)
c.480-9C>A (n.480-9C>A)
1g.229431872G>ACA345146131ACTA1c.839C>T (p.Thr280Ile)
c.704C>T (p.Thr235Ile)
c.480-10C>T (n.480-10C>T)
 gnomAD v4
1g.229431872G>CCA345146133ACTA1c.839C>G (p.Thr280Ser)
c.704C>G (p.Thr235Ser)
c.480-10C>G (n.480-10C>G)
1g.229431872G>TCA345146135ACTA1c.839C>A (p.Thr280Asn)
c.704C>A (p.Thr235Asn)
c.480-10C>A (n.480-10C>A)
1g.229431873T>ACA345146139ACTA1c.838A>T (p.Thr280Ser)
c.703A>T (p.Thr235Ser)
c.480-11A>T (n.480-11A>T)
1g.229431873T>CCA345146144ACTA1c.838A>G (p.Thr280Ala)
c.703A>G (p.Thr235Ala)
c.480-11A>G (n.480-11A>G)
 dbSNP
1g.229431873T>GCA345146141ACTA1c.838A>C (p.Thr280Pro)
c.703A>C (p.Thr235Pro)
c.480-11A>C (n.480-11A>C)
1g.229431873T=CA1226125515ACTA1c.838A= (p.Thr280=)
c.703A= (p.Thr235=)
c.480-11A= (n.480-11A=)
1g.229431874G>ACA38815184ACTA1c.837C>T (p.Thr279=)
c.702C>T (p.Thr234=)
c.480-12C>T (n.480-12C>T)
 dbSNP gnomAD v4
1g.229431874G>CCA423754895ACTA1c.837C>G (p.Thr279=)
c.702C>G (p.Thr234=)
c.480-12C>G (n.480-12C>G)
1g.229431874G=CA1226125516ACTA1c.837C= (p.Thr279=)
c.702C= (p.Thr234=)
c.480-12C= (n.480-12C=)
1g.229431874G>TCA38815189ACTA1c.837C>A (p.Thr279=)
c.702C>A (p.Thr234=)
c.480-12C>A (n.480-12C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229431875G>ACA345146148ACTA1c.836C>T (p.Thr279Ile)
c.701C>T (p.Thr234Ile)
c.480-13C>T (n.480-13C>T)
1g.229431875G>CCA345146150ACTA1c.836C>G (p.Thr279Ser)
c.701C>G (p.Thr234Ser)
c.480-13C>G (n.480-13C>G)
1g.229431875G=CA1226125517ACTA1c.836C= (p.Thr279=)
c.701C= (p.Thr234=)
c.480-13C= (n.480-13C=)
1g.229431875G>TCA1442759ACTA1c.836C>A (p.Thr279Asn)
c.701C>A (p.Thr234Asn)
c.480-13C>A (n.480-13C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431876T>ACA345146155ACTA1c.835A>T (p.Thr279Ser)
c.700A>T (p.Thr234Ser)
c.480-14A>T (n.480-14A>T)
1g.229431876T>CCA345146157ACTA1c.835A>G (p.Thr279Ala)
c.700A>G (p.Thr234Ala)
c.480-14A>G (n.480-14A>G)
1g.229431876T>GCA345146158ACTA1c.835A>C (p.Thr279Pro)
c.700A>C (p.Thr234Pro)
c.480-14A>C (n.480-14A>C)
1g.229431877C>ACA345146160ACTA1c.834G>T (p.Glu278Asp)
c.699G>T (p.Glu233Asp)
c.480-15G>T (n.480-15G>T)
 ClinVar
1g.229431877C=CA1226125518ACTA1c.834G= (p.Glu278=)
c.699G= (p.Glu233=)
c.480-15G= (n.480-15G=)
1g.229431877C>GCA345146162ACTA1c.834G>C (p.Glu278Asp)
c.699G>C (p.Glu233Asp)
c.480-15G>C (n.480-15G>C)
1g.229431877C>TCA423754897ACTA1c.834G>A (p.Glu278=)
c.699G>A (p.Glu233=)
c.480-15G>A (n.480-15G>A)
 dbSNP
1g.229431878T>ACA345146165ACTA1c.833A>T (p.Glu278Val)
c.698A>T (p.Glu233Val)
c.480-16A>T (n.480-16A>T)
1g.229431878T>CCA345146167ACTA1c.833A>G (p.Glu278Gly)
c.698A>G (p.Glu233Gly)
c.480-16A>G (n.480-16A>G)
1g.229431878T>GCA345146169ACTA1c.833A>C (p.Glu278Ala)
c.698A>C (p.Glu233Ala)
c.480-16A>C (n.480-16A>C)
1g.229431879C>ACA345146176ACTA1c.832G>T (p.Glu278Ter)
c.697G>T (p.Glu233Ter)
c.480-17G>T (n.480-17G>T)
1g.229431879C>GCA345146174ACTA1c.832G>C (p.Glu278Gln)
c.697G>C (p.Glu233Gln)
c.480-17G>C (n.480-17G>C)
1g.229431879C>TCA345146172ACTA1c.832G>A (p.Glu278Lys)
c.697G>A (p.Glu233Lys)
c.480-17G>A (n.480-17G>A)
1g.229431879_229431880delinsCGCA1226125519ACTA1c.831_832delinsCG (p.His277=)
c.696_697delinsCG (p.His232=)
c.480-18_480-17delinsCG (n.480-18_480-17delinsCG)
1g.229431880delCA1226125520ACTA1c.831del (p.His277GlnfsTer9)
c.696del (p.His232GlnfsTer9)
c.480-18del (n.480-18del)
 dbSNP
1g.229431880G>ACA423754899ACTA1c.831C>T (p.His277=)
c.696C>T (p.His232=)
c.480-18C>T (n.480-18C>T)
 dbSNP
1g.229431880G>CCA345146178ACTA1c.831C>G (p.His277Gln)
c.696C>G (p.His232Gln)
c.480-18C>G (n.480-18C>G)
1g.229431880G=CA1226125521ACTA1c.831C= (p.His277=)
c.696C= (p.His232=)
c.480-18C= (n.480-18C=)
1g.229431880G>TCA345146180ACTA1c.831C>A (p.His277Gln)
c.696C>A (p.His232Gln)
c.480-18C>A (n.480-18C>A)
 gnomAD v4
1g.229431881T>ACA345146182ACTA1c.830A>T (p.His277Leu)
c.695A>T (p.His232Leu)
c.480-19A>T (n.480-19A>T)
1g.229431881T>CCA345146184ACTA1c.830A>G (p.His277Arg)
c.695A>G (p.His232Arg)
c.480-19A>G (n.480-19A>G)
1g.229431881T>GCA345146186ACTA1c.830A>C (p.His277Pro)
c.695A>C (p.His232Pro)
c.480-19A>C (n.480-19A>C)
1g.229431882G>ACA345146190ACTA1c.829C>T (p.His277Tyr)
c.694C>T (p.His232Tyr)
c.480-20C>T (n.480-20C>T)
1g.229431882G>CCA345146191ACTA1c.829C>G (p.His277Asp)
c.694C>G (p.His232Asp)
c.480-20C>G (n.480-20C>G)
1g.229431882G=CA1226125522ACTA1c.829C= (p.His277=)
c.694C= (p.His232=)
c.480-20C= (n.480-20C=)
1g.229431882G>TCA345146193ACTA1c.829C>A (p.His277Asn)
c.694C>A (p.His232Asn)
c.480-20C>A (n.480-20C>A)
 dbSNP
1g.229431883A=CA1226125523ACTA1c.828T= (p.Ile276=)
c.693T= (p.Ile231=)
c.480-21T= (n.480-21T=)
1g.229431883A>CCA345146196ACTA1c.828T>G (p.Ile276Met)
c.693T>G (p.Ile231Met)
c.480-21T>G (n.480-21T>G)
1g.229431883A>GCA423754900ACTA1c.828T>C (p.Ile276=)
c.693T>C (p.Ile231=)
c.480-21T>C (n.480-21T>C)
 dbSNP
1g.229431883A>TCA423754901ACTA1c.828T>A (p.Ile276=)
c.693T>A (p.Ile231=)
c.480-21T>A (n.480-21T>A)
1g.229431884A=CA1226125524ACTA1c.827T= (p.Ile276=)
c.692T= (p.Ile231=)
c.480-22T= (n.480-22T=)
1g.229431884A>CCA345146200ACTA1c.827T>G (p.Ile276Ser)
c.692T>G (p.Ile231Ser)
c.480-22T>G (n.480-22T>G)
1g.229431884A>GCA1442760ACTA1c.827T>C (p.Ile276Thr)
c.692T>C (p.Ile231Thr)
c.480-22T>C (n.480-22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431884A>TCA345146199ACTA1c.827T>A (p.Ile276Asn)
c.692T>A (p.Ile231Asn)
c.480-22T>A (n.480-22T>A)
1g.229431884_229431885delinsGGCA2580062277ACTA1c.826_827delinsCC (p.Ile276Pro)
c.691_692delinsCC (p.Ile231Pro)
c.480-23_480-22delinsCC (n.480-23_480-22delinsCC)
 ClinVar
1g.229431885T>ACA345146204ACTA1c.826A>T (p.Ile276Phe)
c.691A>T (p.Ile231Phe)
c.480-23A>T (n.480-23A>T)
1g.229431885T>CCA345146206ACTA1c.826A>G (p.Ile276Val)
c.691A>G (p.Ile231Val)
c.480-23A>G (n.480-23A>G)
 gnomAD v4
1g.229431885T>GCA1442761ACTA1c.826A>C (p.Ile276Leu)
c.691A>C (p.Ile231Leu)
c.480-23A>C (n.480-23A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431885T=CA1226125525ACTA1c.826A= (p.Ile276=)
c.691A= (p.Ile231=)
c.480-23A= (n.480-23A=)
1g.229431886G>ACA423754902ACTA1c.825C>T (p.Gly275=)
c.690C>T (p.Gly230=)
c.480-24C>T (n.480-24C>T)
 gnomAD v4
1g.229431886G>CCA423754903ACTA1c.825C>G (p.Gly275=)
c.690C>G (p.Gly230=)
c.480-24C>G (n.480-24C>G)
 dbSNP
1g.229431886G=CA1226125526ACTA1c.825C= (p.Gly275=)
c.690C= (p.Gly230=)
c.480-24C= (n.480-24C=)
1g.229431886G>TCA423754904ACTA1c.825C>A (p.Gly275=)
c.690C>A (p.Gly230=)
c.480-24C>A (n.480-24C>A)
1g.229431887C>ACA345146210ACTA1c.824G>T (p.Gly275Val)
c.689G>T (p.Gly230Val)
c.480-25G>T (n.480-25G>T)
1g.229431887C>GCA345146212ACTA1c.824G>C (p.Gly275Ala)
c.689G>C (p.Gly230Ala)
c.480-25G>C (n.480-25G>C)
1g.229431887C>TCA345146214ACTA1c.824G>A (p.Gly275Asp)
c.689G>A (p.Gly230Asp)
c.480-25G>A (n.480-25G>A)
1g.229431888C>ACA345146217ACTA1c.823G>T (p.Gly275Cys)
c.688G>T (p.Gly230Cys)
c.480-26G>T (n.480-26G>T)
 COSMIC
1g.229431888C>GCA345146222ACTA1c.823G>C (p.Gly275Arg)
c.688G>C (p.Gly230Arg)
c.480-26G>C (n.480-26G>C)
1g.229431888C>TCA345146219ACTA1c.823G>A (p.Gly275Ser)
c.688G>A (p.Gly230Ser)
c.480-26G>A (n.480-26G>A)

Number of alleles fetched