Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.151186493_151186513delCA579077210ASB10c.470_490del (p.Ala157_Cys163del)
c.425_445del (p.Ala142_Cys148del)
c.605_625del (p.Ala202_Cys208del)
 dbSNP gnomAD v2 gnomAD v4
7g.151186502_151186515delCA2685657517ASB10c.461_474del (p.Glu154GlyfsTer20)
c.416_429del (p.Glu139GlyfsTer20)
c.596_609del (p.Glu199GlyfsTer20)
 gnomAD v4
7g.151186512G>ACA370036070ASB10c.464C>T (p.Ala155Val)
c.419C>T (p.Ala140Val)
c.599C>T (p.Ala200Val)
 gnomAD v4
7g.151186512G>CCA370036069ASB10c.464C>G (p.Ala155Gly)
c.419C>G (p.Ala140Gly)
c.599C>G (p.Ala200Gly)
7g.151186512G>TCA370036067ASB10c.464C>A (p.Ala155Asp)
c.419C>A (p.Ala140Asp)
c.599C>A (p.Ala200Asp)
 dbSNP gnomAD v4
7g.151186513C>ACA4573874ASB10c.463G>T (p.Ala155Ser)
c.418G>T (p.Ala140Ser)
c.598G>T (p.Ala200Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186513C=CA1752545017ASB10c.463G= (p.Ala155=)
c.418G= (p.Ala140=)
c.598G= (p.Ala200=)
7g.151186513C>GCA370036073ASB10c.463G>C (p.Ala155Pro)
c.418G>C (p.Ala140Pro)
c.598G>C (p.Ala200Pro)
7g.151186513C>TCA370036074ASB10c.463G>A (p.Ala155Thr)
c.418G>A (p.Ala140Thr)
c.598G>A (p.Ala200Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186514C>ACA370036075ASB10c.462G>T (p.Glu154Asp)
c.417G>T (p.Glu139Asp)
c.597G>T (p.Glu199Asp)
7g.151186514C>GCA370036077ASB10c.462G>C (p.Glu154Asp)
c.417G>C (p.Glu139Asp)
c.597G>C (p.Glu199Asp)
7g.151186514C>TCA458881570ASB10c.462G>A (p.Glu154=)
c.417G>A (p.Glu139=)
c.597G>A (p.Glu199=)
 gnomAD v4
7g.151186515T>ACA370036079ASB10c.461A>T (p.Glu154Val)
c.416A>T (p.Glu139Val)
c.596A>T (p.Glu199Val)
7g.151186515T>CCA370036080ASB10c.461A>G (p.Glu154Gly)
c.416A>G (p.Glu139Gly)
c.596A>G (p.Glu199Gly)
7g.151186515T>GCA370036081ASB10c.461A>C (p.Glu154Ala)
c.416A>C (p.Glu139Ala)
c.596A>C (p.Glu199Ala)
7g.151186516C>ACA370036083ASB10c.460G>T (p.Glu154Ter)
c.415G>T (p.Glu139Ter)
c.595G>T (p.Glu199Ter)
 gnomAD v4
7g.151186516C=CA1752545022ASB10c.460G= (p.Glu154=)
c.415G= (p.Glu139=)
c.595G= (p.Glu199=)
7g.151186516C>GCA370036084ASB10c.460G>C (p.Glu154Gln)
c.415G>C (p.Glu139Gln)
c.595G>C (p.Glu199Gln)
 dbSNP gnomAD v3 gnomAD v4
7g.151186516C>TCA4573875ASB10c.460G>A (p.Glu154Lys)
c.415G>A (p.Glu139Lys)
c.595G>A (p.Glu199Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186517G>ACA4573876ASB10c.459C>T (p.His153=)
c.414C>T (p.His138=)
c.594C>T (p.His198=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186517G>CCA370036089ASB10c.459C>G (p.His153Gln)
c.414C>G (p.His138Gln)
c.594C>G (p.His198Gln)
7g.151186517G=CA1752545027ASB10c.459C= (p.His153=)
c.414C= (p.His138=)
c.594C= (p.His198=)
7g.151186517G>TCA370036087ASB10c.459C>A (p.His153Gln)
c.414C>A (p.His138Gln)
c.594C>A (p.His198Gln)
7g.151186518T>ACA370036091ASB10c.458A>T (p.His153Leu)
c.413A>T (p.His138Leu)
c.593A>T (p.His198Leu)
7g.151186518T>CCA370036093ASB10c.458A>G (p.His153Arg)
c.413A>G (p.His138Arg)
c.593A>G (p.His198Arg)
7g.151186518T>GCA370036095ASB10c.458A>C (p.His153Pro)
c.413A>C (p.His138Pro)
c.593A>C (p.His198Pro)
7g.151186519G>ACA370036097ASB10c.457C>T (p.His153Tyr)
c.412C>T (p.His138Tyr)
c.592C>T (p.His198Tyr)
7g.151186519G>CCA370036098ASB10c.457C>G (p.His153Asp)
c.412C>G (p.His138Asp)
c.592C>G (p.His198Asp)
7g.151186519G>TCA370036100ASB10c.457C>A (p.His153Asn)
c.412C>A (p.His138Asn)
c.592C>A (p.His198Asn)
 gnomAD v4
7g.151186520C>ACA458881571ASB10c.456G>T (p.Leu152=)
c.411G>T (p.Leu137=)
c.591G>T (p.Leu197=)
 gnomAD v4
7g.151186520C>GCA458881572ASB10c.456G>C (p.Leu152=)
c.411G>C (p.Leu137=)
c.591G>C (p.Leu197=)
7g.151186520C>TCA458881573ASB10c.456G>A (p.Leu152=)
c.411G>A (p.Leu137=)
c.591G>A (p.Leu197=)
 gnomAD v4
7g.151186521A>CCA370036106ASB10c.455T>G (p.Leu152Arg)
c.410T>G (p.Leu137Arg)
c.590T>G (p.Leu197Arg)
7g.151186521A>GCA370036103ASB10c.455T>C (p.Leu152Pro)
c.410T>C (p.Leu137Pro)
c.590T>C (p.Leu197Pro)
 gnomAD v4
7g.151186521A>TCA370036104ASB10c.455T>A (p.Leu152Gln)
c.410T>A (p.Leu137Gln)
c.590T>A (p.Leu197Gln)
 gnomAD v4
7g.151186522G>ACA458881574ASB10c.454C>T (p.Leu152=)
c.409C>T (p.Leu137=)
c.589C>T (p.Leu197=)
7g.151186522G>CCA370036108ASB10c.454C>G (p.Leu152Val)
c.409C>G (p.Leu137Val)
c.589C>G (p.Leu197Val)
7g.151186522G>TCA370036110ASB10c.454C>A (p.Leu152Met)
c.409C>A (p.Leu137Met)
c.589C>A (p.Leu197Met)
7g.151186523G>ACA458881575ASB10c.453C>T (p.Ala151=)
c.408C>T (p.Ala136=)
c.588C>T (p.Ala196=)
 COSMIC COSMIC COSMIC COSMIC
7g.151186523G>CCA458881577ASB10c.453C>G (p.Ala151=)
c.408C>G (p.Ala136=)
c.588C>G (p.Ala196=)
7g.151186523G>TCA458881576ASB10c.453C>A (p.Ala151=)
c.408C>A (p.Ala136=)
c.588C>A (p.Ala196=)
7g.151186524G>ACA370036111ASB10c.452C>T (p.Ala151Val)
c.407C>T (p.Ala136Val)
c.587C>T (p.Ala196Val)
7g.151186524G>CCA370036113ASB10c.452C>G (p.Ala151Gly)
c.407C>G (p.Ala136Gly)
c.587C>G (p.Ala196Gly)
7g.151186524G>TCA370036114ASB10c.452C>A (p.Ala151Asp)
c.407C>A (p.Ala136Asp)
c.587C>A (p.Ala196Asp)
7g.151186525C>ACA370036117ASB10c.451G>T (p.Ala151Ser)
c.406G>T (p.Ala136Ser)
c.586G>T (p.Ala196Ser)
 gnomAD v4
7g.151186525C=CA1752545031ASB10c.451G= (p.Ala151=)
c.406G= (p.Ala136=)
c.586G= (p.Ala196=)
7g.151186525C>GCA370036118ASB10c.451G>C (p.Ala151Pro)
c.406G>C (p.Ala136Pro)
c.586G>C (p.Ala196Pro)
7g.151186525C>TCA4573877ASB10c.451G>A (p.Ala151Thr)
c.406G>A (p.Ala136Thr)
c.586G>A (p.Ala196Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186526G>ACA4573878ASB10c.450C>T (p.Thr150=)
c.405C>T (p.Thr135=)
c.585C>T (p.Thr195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186526G>CCA458881578ASB10c.450C>G (p.Thr150=)
c.405C>G (p.Thr135=)
c.585C>G (p.Thr195=)
7g.151186526G=CA1752545038ASB10c.450C= (p.Thr150=)
c.405C= (p.Thr135=)
c.585C= (p.Thr195=)
7g.151186526G>TCA4573879ASB10c.450C>A (p.Thr150=)
c.405C>A (p.Thr135=)
c.585C>A (p.Thr195=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186527G>ACA169125281ASB10c.449C>T (p.Thr150Ile)
c.404C>T (p.Thr135Ile)
c.584C>T (p.Thr195Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186527G>CCA370036125ASB10c.449C>G (p.Thr150Ser)
c.404C>G (p.Thr135Ser)
c.584C>G (p.Thr195Ser)
7g.151186527G=CA1752545048ASB10c.449C= (p.Thr150=)
c.404C= (p.Thr135=)
c.584C= (p.Thr195=)
7g.151186527G>TCA4573880ASB10c.449C>A (p.Thr150Asn)
c.404C>A (p.Thr135Asn)
c.584C>A (p.Thr195Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186528T>ACA370036127ASB10c.448A>T (p.Thr150Ser)
c.403A>T (p.Thr135Ser)
c.583A>T (p.Thr195Ser)
7g.151186528T>CCA370036128ASB10c.448A>G (p.Thr150Ala)
c.403A>G (p.Thr135Ala)
c.583A>G (p.Thr195Ala)
7g.151186528T>GCA370036130ASB10c.448A>C (p.Thr150Pro)
c.403A>C (p.Thr135Pro)
c.583A>C (p.Thr195Pro)
7g.151186529G>ACA458881579ASB10c.447C>T (p.Arg149=)
c.402C>T (p.Arg134=)
c.582C>T (p.Arg194=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186529G>CCA458881580ASB10c.447C>G (p.Arg149=)
c.402C>G (p.Arg134=)
c.582C>G (p.Arg194=)
7g.151186529G=CA1752545053ASB10c.447C= (p.Arg149=)
c.402C= (p.Arg134=)
c.582C= (p.Arg194=)
7g.151186529G>TCA458881581ASB10c.447C>A (p.Arg149=)
c.402C>A (p.Arg134=)
c.582C>A (p.Arg194=)
 gnomAD v4
7g.151186530C>ACA370036132ASB10c.446G>T (p.Arg149Leu)
c.401G>T (p.Arg134Leu)
c.581G>T (p.Arg194Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.151186530C=CA1752545060ASB10c.446G= (p.Arg149=)
c.401G= (p.Arg134=)
c.581G= (p.Arg194=)
7g.151186530C>GCA370036134ASB10c.446G>C (p.Arg149Pro)
c.401G>C (p.Arg134Pro)
c.581G>C (p.Arg194Pro)
7g.151186530C>TCA4573881ASB10c.446G>A (p.Arg149His)
c.401G>A (p.Arg134His)
c.581G>A (p.Arg194His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186531G>ACA4573882ASB10c.445C>T (p.Arg149Cys)
c.400C>T (p.Arg134Cys)
c.580C>T (p.Arg194Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186531G>CCA370036139ASB10c.445C>G (p.Arg149Gly)
c.400C>G (p.Arg134Gly)
c.580C>G (p.Arg194Gly)
7g.151186531G=CA1752545064ASB10c.445C= (p.Arg149=)
c.400C= (p.Arg134=)
c.580C= (p.Arg194=)
7g.151186531G>TCA370036137ASB10c.445C>A (p.Arg149Ser)
c.400C>A (p.Arg134Ser)
c.580C>A (p.Arg194Ser)
 gnomAD v4
7g.151186532delCA2685657518ASB10c.445del (p.Arg149AlafsTer?)
c.400del (p.Arg134AlafsTer?)
c.580del (p.Arg194AlafsTer?)
 gnomAD v4
7g.151186532G>ACA458881584ASB10c.444C>T (p.Gly148=)
c.399C>T (p.Gly133=)
c.579C>T (p.Gly193=)
 gnomAD v4
7g.151186532G>CCA458881582ASB10c.444C>G (p.Gly148=)
c.399C>G (p.Gly133=)
c.579C>G (p.Gly193=)
7g.151186532G=CA1752545068ASB10c.444C= (p.Gly148=)
c.399C= (p.Gly133=)
c.579C= (p.Gly193=)
7g.151186532G>TCA458881583ASB10c.444C>A (p.Gly148=)
c.399C>A (p.Gly133=)
c.579C>A (p.Gly193=)
 dbSNP gnomAD v2 gnomAD v4
7g.151186533C>ACA370036143ASB10c.443G>T (p.Gly148Val)
c.398G>T (p.Gly133Val)
c.578G>T (p.Gly193Val)
7g.151186533C>GCA370036141ASB10c.443G>C (p.Gly148Ala)
c.398G>C (p.Gly133Ala)
c.578G>C (p.Gly193Ala)
7g.151186533C>TCA370036145ASB10c.443G>A (p.Gly148Asp)
c.398G>A (p.Gly133Asp)
c.578G>A (p.Gly193Asp)
 gnomAD v4
7g.151186537delCA2685657519ASB10c.443del (p.Gly148AlafsTer?)
c.398del (p.Gly133AlafsTer?)
c.578del (p.Gly193AlafsTer?)
 gnomAD v4
7g.151186534C>ACA370036147ASB10c.442G>T (p.Gly148Cys)
c.397G>T (p.Gly133Cys)
c.577G>T (p.Gly193Cys)
 gnomAD v4
7g.151186534C>GCA370036150ASB10c.442G>C (p.Gly148Arg)
c.397G>C (p.Gly133Arg)
c.577G>C (p.Gly193Arg)
7g.151186534C>TCA370036148ASB10c.442G>A (p.Gly148Ser)
c.397G>A (p.Gly133Ser)
c.577G>A (p.Gly193Ser)
7g.151186535C>ACA4573883ASB10c.441G>T (p.Gly147=)
c.396G>T (p.Gly132=)
c.576G>T (p.Gly192=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186535C=CA1752545071ASB10c.441G= (p.Gly147=)
c.396G= (p.Gly132=)
c.576G= (p.Gly192=)
7g.151186535C>GCA458881585ASB10c.441G>C (p.Gly147=)
c.396G>C (p.Gly132=)
c.576G>C (p.Gly192=)
7g.151186535C>TCA458881586ASB10c.441G>A (p.Gly147=)
c.396G>A (p.Gly132=)
c.576G>A (p.Gly192=)
 gnomAD v4
7g.151186536C>ACA370036157ASB10c.440G>T (p.Gly147Val)
c.395G>T (p.Gly132Val)
c.575G>T (p.Gly192Val)
7g.151186536C>GCA370036154ASB10c.440G>C (p.Gly147Ala)
c.395G>C (p.Gly132Ala)
c.575G>C (p.Gly192Ala)
7g.151186536C>TCA370036156ASB10c.440G>A (p.Gly147Glu)
c.395G>A (p.Gly132Glu)
c.575G>A (p.Gly192Glu)
7g.151186537C>ACA370036159ASB10c.439G>T (p.Gly147Trp)
c.394G>T (p.Gly132Trp)
c.574G>T (p.Gly192Trp)
 gnomAD v4
7g.151186537C>GCA370036161ASB10c.439G>C (p.Gly147Arg)
c.394G>C (p.Gly132Arg)
c.574G>C (p.Gly192Arg)
 gnomAD v4
7g.151186537C>TCA370036162ASB10c.439G>A (p.Gly147Arg)
c.394G>A (p.Gly132Arg)
c.574G>A (p.Gly192Arg)
7g.151186538A>CCA458881587ASB10c.438T>G (p.Pro146=)
c.393T>G (p.Pro131=)
c.573T>G (p.Pro191=)
7g.151186538A>GCA458881589ASB10c.438T>C (p.Pro146=)
c.393T>C (p.Pro131=)
c.573T>C (p.Pro191=)
7g.151186538A>TCA458881588ASB10c.438T>A (p.Pro146=)
c.393T>A (p.Pro131=)
c.573T>A (p.Pro191=)
7g.151186538_151186539delinsAGCA1752545075ASB10c.437_438delinsCT (p.Pro146=)
c.392_393delinsCT (p.Pro131=)
c.572_573delinsCT (p.Pro191=)
7g.151186539G>ACA370036171ASB10c.437C>T (p.Pro146Leu)
c.392C>T (p.Pro131Leu)
c.572C>T (p.Pro191Leu)
 dbSNP gnomAD v4
7g.151186539G>CCA370036169ASB10c.437C>G (p.Pro146Arg)
c.392C>G (p.Pro131Arg)
c.572C>G (p.Pro191Arg)
7g.151186539G=CA1752545080ASB10c.437C= (p.Pro146=)
c.392C= (p.Pro131=)
c.572C= (p.Pro191=)
7g.151186539G>TCA370036172ASB10c.437C>A (p.Pro146His)
c.392C>A (p.Pro131His)
c.572C>A (p.Pro191His)
 gnomAD v4
7g.151186542delCA4573884ASB10c.437del (p.Pro146LeufsTer?)
c.392del (p.Pro131LeufsTer?)
c.572del (p.Pro191LeufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186540G>ACA370036173ASB10c.436C>T (p.Pro146Ser)
c.391C>T (p.Pro131Ser)
c.571C>T (p.Pro191Ser)
7g.151186540G>CCA370036175ASB10c.436C>G (p.Pro146Ala)
c.391C>G (p.Pro131Ala)
c.571C>G (p.Pro191Ala)
7g.151186540G>TCA370036177ASB10c.436C>A (p.Pro146Thr)
c.391C>A (p.Pro131Thr)
c.571C>A (p.Pro191Thr)
 COSMIC COSMIC COSMIC COSMIC
7g.151186541G>ACA458881590ASB10c.435C>T (p.Ala145=)
c.390C>T (p.Ala130=)
c.570C>T (p.Ala190=)
 dbSNP gnomAD v4
7g.151186541G>CCA458881591ASB10c.435C>G (p.Ala145=)
c.390C>G (p.Ala130=)
c.570C>G (p.Ala190=)
7g.151186541G=CA1752545085ASB10c.435C= (p.Ala145=)
c.390C= (p.Ala130=)
c.570C= (p.Ala190=)
7g.151186541G>TCA4573885ASB10c.435C>A (p.Ala145=)
c.390C>A (p.Ala130=)
c.570C>A (p.Ala190=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186542G>ACA370036183ASB10c.434C>T (p.Ala145Val)
c.389C>T (p.Ala130Val)
c.569C>T (p.Ala190Val)
 dbSNP gnomAD v2 gnomAD v4
7g.151186542G>CCA370036182ASB10c.434C>G (p.Ala145Gly)
c.389C>G (p.Ala130Gly)
c.569C>G (p.Ala190Gly)
7g.151186542G=CA1752545088ASB10c.434C= (p.Ala145=)
c.389C= (p.Ala130=)
c.569C= (p.Ala190=)
7g.151186542G>TCA370036180ASB10c.434C>A (p.Ala145Asp)
c.389C>A (p.Ala130Asp)
c.569C>A (p.Ala190Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186543C>ACA370036185ASB10c.433G>T (p.Ala145Ser)
c.388G>T (p.Ala130Ser)
c.568G>T (p.Ala190Ser)
 gnomAD v4
7g.151186543C>GCA370036187ASB10c.433G>C (p.Ala145Pro)
c.388G>C (p.Ala130Pro)
c.568G>C (p.Ala190Pro)
7g.151186543C>TCA370036189ASB10c.433G>A (p.Ala145Thr)
c.388G>A (p.Ala130Thr)
c.568G>A (p.Ala190Thr)
7g.151186544A>CCA370036192ASB10c.432T>G (p.Ser144Arg)
c.387T>G (p.Ser129Arg)
c.567T>G (p.Ser189Arg)
7g.151186544A>GCA458881592ASB10c.432T>C (p.Ser144=)
c.387T>C (p.Ser129=)
c.567T>C (p.Ser189=)
7g.151186544A>TCA370036193ASB10c.432T>A (p.Ser144Arg)
c.387T>A (p.Ser129Arg)
c.567T>A (p.Ser189Arg)
7g.151186545C>ACA370036195ASB10c.431G>T (p.Ser144Ile)
c.386G>T (p.Ser129Ile)
c.566G>T (p.Ser189Ile)
 gnomAD v4
7g.151186545C=CA1752545094ASB10c.431G= (p.Ser144=)
c.386G= (p.Ser129=)
c.566G= (p.Ser189=)
7g.151186545C>GCA370036197ASB10c.431G>C (p.Ser144Thr)
c.386G>C (p.Ser129Thr)
c.566G>C (p.Ser189Thr)
7g.151186545C>TCA370036198ASB10c.431G>A (p.Ser144Asn)
c.386G>A (p.Ser129Asn)
c.566G>A (p.Ser189Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186546T>ACA370036203ASB10c.430A>T (p.Ser144Cys)
c.385A>T (p.Ser129Cys)
c.565A>T (p.Ser189Cys)
 dbSNP gnomAD v2
7g.151186546T>CCA4573886ASB10c.430A>G (p.Ser144Gly)
c.385A>G (p.Ser129Gly)
c.565A>G (p.Ser189Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186546T>GCA370036202ASB10c.430A>C (p.Ser144Arg)
c.385A>C (p.Ser129Arg)
c.565A>C (p.Ser189Arg)
 gnomAD v4
7g.151186546T=CA1752545101ASB10c.430A= (p.Ser144=)
c.385A= (p.Ser129=)
c.565A= (p.Ser189=)
7g.151186547G>ACA458881593ASB10c.429C>T (p.Asp143=)
c.384C>T (p.Asp128=)
c.564C>T (p.Asp188=)
 dbSNP gnomAD v4
7g.151186547G>CCA169125339ASB10c.429C>G (p.Asp143Glu)
c.384C>G (p.Asp128Glu)
c.564C>G (p.Asp188Glu)
 dbSNP
7g.151186547G=CA1752545105ASB10c.429C= (p.Asp143=)
c.384C= (p.Asp128=)
c.564C= (p.Asp188=)
7g.151186547G>TCA370036207ASB10c.429C>A (p.Asp143Glu)
c.384C>A (p.Asp128Glu)
c.564C>A (p.Asp188Glu)
7g.151186548T>ACA370036209ASB10c.428A>T (p.Asp143Val)
c.383A>T (p.Asp128Val)
c.563A>T (p.Asp188Val)
7g.151186548T>CCA370036211ASB10c.428A>G (p.Asp143Gly)
c.383A>G (p.Asp128Gly)
c.563A>G (p.Asp188Gly)
 dbSNP
7g.151186548T>GCA370036213ASB10c.428A>C (p.Asp143Ala)
c.383A>C (p.Asp128Ala)
c.563A>C (p.Asp188Ala)
7g.151186548T=CA1752545110ASB10c.428A= (p.Asp143=)
c.383A= (p.Asp128=)
c.563A= (p.Asp188=)
7g.151186549C>ACA370036215ASB10c.427G>T (p.Asp143Tyr)
c.382G>T (p.Asp128Tyr)
c.562G>T (p.Asp188Tyr)
7g.151186549C=CA1752545119ASB10c.427G= (p.Asp143=)
c.382G= (p.Asp128=)
c.562G= (p.Asp188=)
7g.151186549C>GCA370036217ASB10c.427G>C (p.Asp143His)
c.382G>C (p.Asp128His)
c.562G>C (p.Asp188His)
7g.151186549C>TCA370036219ASB10c.427G>A (p.Asp143Asn)
c.382G>A (p.Asp128Asn)
c.562G>A (p.Asp188Asn)
 dbSNP gnomAD v4
7g.151186550T>ACA458881594ASB10c.426A>T (p.Pro142=)
c.381A>T (p.Pro127=)
c.561A>T (p.Pro187=)
7g.151186550T>CCA458881595ASB10c.426A>G (p.Pro142=)
c.381A>G (p.Pro127=)
c.561A>G (p.Pro187=)
7g.151186550T>GCA458881596ASB10c.426A>C (p.Pro142=)
c.381A>C (p.Pro127=)
c.561A>C (p.Pro187=)
7g.151186551G>ACA370036220ASB10c.425C>T (p.Pro142Leu)
c.380C>T (p.Pro127Leu)
c.560C>T (p.Pro187Leu)
7g.151186551G>CCA370036221ASB10c.425C>G (p.Pro142Arg)
c.380C>G (p.Pro127Arg)
c.560C>G (p.Pro187Arg)
7g.151186551G>TCA370036223ASB10c.425C>A (p.Pro142Gln)
c.380C>A (p.Pro127Gln)
c.560C>A (p.Pro187Gln)
7g.151186551_151186563delinsGGCCTTGCTCGCCCA1752545124ASB10c.413_425delinsGGCGAGCAAGGCC (p.Arg138=)
c.368_380delinsGGCGAGCAAGGCC (p.Arg123=)
c.548_560delinsGGCGAGCAAGGCC (p.Arg183=)
7g.151186552G>ACA370036228ASB10c.424C>T (p.Pro142Ser)
c.379C>T (p.Pro127Ser)
c.559C>T (p.Pro187Ser)
7g.151186552G>CCA370036230ASB10c.424C>G (p.Pro142Ala)
c.379C>G (p.Pro127Ala)
c.559C>G (p.Pro187Ala)
7g.151186552G>TCA370036226ASB10c.424C>A (p.Pro142Thr)
c.379C>A (p.Pro127Thr)
c.559C>A (p.Pro187Thr)
7g.151186556_151186567delCA4573887ASB10c.413_424del (p.Arg138_Arg141del)
c.368_379del (p.Arg123_Arg126del)
c.548_559del (p.Arg183_Arg186del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186553C>ACA370036232ASB10c.423G>T (p.Arg141Ser)
c.378G>T (p.Arg126Ser)
c.558G>T (p.Arg186Ser)
7g.151186553C=CA1752545133ASB10c.423G= (p.Arg141=)
c.378G= (p.Arg126=)
c.558G= (p.Arg186=)
7g.151186553C>GCA370036234ASB10c.423G>C (p.Arg141Ser)
c.378G>C (p.Arg126Ser)
c.558G>C (p.Arg186Ser)
7g.151186553C>TCA458881597ASB10c.423G>A (p.Arg141=)
c.378G>A (p.Arg126=)
c.558G>A (p.Arg186=)
 dbSNP gnomAD v2 gnomAD v4
7g.151186554C>ACA370036236ASB10c.422G>T (p.Arg141Met)
c.377G>T (p.Arg126Met)
c.557G>T (p.Arg186Met)
7g.151186554C>GCA370036237ASB10c.422G>C (p.Arg141Thr)
c.377G>C (p.Arg126Thr)
c.557G>C (p.Arg186Thr)
7g.151186554C>TCA370036239ASB10c.422G>A (p.Arg141Lys)
c.377G>A (p.Arg126Lys)
c.557G>A (p.Arg186Lys)
 gnomAD v4
7g.151186555T>ACA370036243ASB10c.421A>T (p.Arg141Trp)
c.376A>T (p.Arg126Trp)
c.556A>T (p.Arg186Trp)
7g.151186555T>CCA370036241ASB10c.421A>G (p.Arg141Gly)
c.376A>G (p.Arg126Gly)
c.556A>G (p.Arg186Gly)
7g.151186555T>GCA458881598ASB10c.421A>C (p.Arg141=)
c.376A>C (p.Arg126=)
c.556A>C (p.Arg186=)
7g.151186556T>ACA458881599ASB10c.420A>T (p.Ala140=)
c.375A>T (p.Ala125=)
c.555A>T (p.Ala185=)
 dbSNP gnomAD v2 gnomAD v4
7g.151186556T>CCA458881600ASB10c.420A>G (p.Ala140=)
c.375A>G (p.Ala125=)
c.555A>G (p.Ala185=)
7g.151186556T>GCA458881601ASB10c.420A>C (p.Ala140=)
c.375A>C (p.Ala125=)
c.555A>C (p.Ala185=)
7g.151186556T=CA1752545137ASB10c.420A= (p.Ala140=)
c.375A= (p.Ala125=)
c.555A= (p.Ala185=)
7g.151186557G>ACA370036244ASB10c.419C>T (p.Ala140Val)
c.374C>T (p.Ala125Val)
c.554C>T (p.Ala185Val)
 COSMIC COSMIC COSMIC COSMIC
7g.151186557G>CCA370036246ASB10c.419C>G (p.Ala140Gly)
c.374C>G (p.Ala125Gly)
c.554C>G (p.Ala185Gly)
7g.151186557G>TCA370036248ASB10c.419C>A (p.Ala140Glu)
c.374C>A (p.Ala125Glu)
c.554C>A (p.Ala185Glu)
7g.151186558C>ACA370036250ASB10c.418G>T (p.Ala140Ser)
c.373G>T (p.Ala125Ser)
c.553G>T (p.Ala185Ser)
7g.151186558C=CA1752545139ASB10c.418G= (p.Ala140=)
c.373G= (p.Ala125=)
c.553G= (p.Ala185=)
7g.151186558C>GCA370036251ASB10c.418G>C (p.Ala140Pro)
c.373G>C (p.Ala125Pro)
c.553G>C (p.Ala185Pro)
7g.151186558C>TCA4573888ASB10c.418G>A (p.Ala140Thr)
c.373G>A (p.Ala125Thr)
c.553G>A (p.Ala185Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186559T>ACA458881602ASB10c.417A>T (p.Arg139=)
c.372A>T (p.Arg124=)
c.552A>T (p.Arg184=)
 dbSNP gnomAD v2 gnomAD v4
7g.151186559T>CCA458881603ASB10c.417A>G (p.Arg139=)
c.372A>G (p.Arg124=)
c.552A>G (p.Arg184=)
7g.151186559T>GCA458881604ASB10c.417A>C (p.Arg139=)
c.372A>C (p.Arg124=)
c.552A>C (p.Arg184=)
7g.151186559T=CA1752545143ASB10c.417A= (p.Arg139=)
c.372A= (p.Arg124=)
c.552A= (p.Arg184=)
7g.151186560C>ACA370036257ASB10c.416G>T (p.Arg139Leu)
c.371G>T (p.Arg124Leu)
c.551G>T (p.Arg184Leu)
7g.151186560C=CA1752545144ASB10c.416G= (p.Arg139=)
c.371G= (p.Arg124=)
c.551G= (p.Arg184=)
7g.151186560C>GCA370036255ASB10c.416G>C (p.Arg139Pro)
c.371G>C (p.Arg124Pro)
c.551G>C (p.Arg184Pro)
 gnomAD v4
7g.151186560C>TCA4573889ASB10c.416G>A (p.Arg139Gln)
c.371G>A (p.Arg124Gln)
c.551G>A (p.Arg184Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186561G>ACA4573890ASB10c.415C>T (p.Arg139Ter)
c.370C>T (p.Arg124Ter)
c.550C>T (p.Arg184Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186561G>CCA370036259ASB10c.415C>G (p.Arg139Gly)
c.370C>G (p.Arg124Gly)
c.550C>G (p.Arg184Gly)
7g.151186561G=CA1752545145ASB10c.415C= (p.Arg139=)
c.370C= (p.Arg124=)
c.550C= (p.Arg184=)
7g.151186561G>TCA458881605ASB10c.415C>A (p.Arg139=)
c.370C>A (p.Arg124=)
c.550C>A (p.Arg184=)
 gnomAD v4
7g.151186562C>ACA458881606ASB10c.414G>T (p.Arg138=)
c.369G>T (p.Arg123=)
c.549G>T (p.Arg183=)
7g.151186562C>GCA458881607ASB10c.414G>C (p.Arg138=)
c.369G>C (p.Arg123=)
c.549G>C (p.Arg183=)
7g.151186562C>TCA458881608ASB10c.414G>A (p.Arg138=)
c.369G>A (p.Arg123=)
c.549G>A (p.Arg183=)
 gnomAD v4
7g.151186563C>ACA370036261ASB10c.413G>T (p.Arg138Leu)
c.368G>T (p.Arg123Leu)
c.548G>T (p.Arg183Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.151186563C=CA1752545147ASB10c.413G= (p.Arg138=)
c.368G= (p.Arg123=)
c.548G= (p.Arg183=)
7g.151186563C>GCA370036263ASB10c.413G>C (p.Arg138Pro)
c.368G>C (p.Arg123Pro)
c.548G>C (p.Arg183Pro)
7g.151186563C>TCA4573891ASB10c.413G>A (p.Arg138Gln)
c.368G>A (p.Arg123Gln)
c.548G>A (p.Arg183Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186564G>ACA4573892ASB10c.412C>T (p.Arg138Trp)
c.367C>T (p.Arg123Trp)
c.547C>T (p.Arg183Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186564G>CCA370036265ASB10c.412C>G (p.Arg138Gly)
c.367C>G (p.Arg123Gly)
c.547C>G (p.Arg183Gly)
7g.151186564G=CA1752545153ASB10c.412C= (p.Arg138=)
c.367C= (p.Arg123=)
c.547C= (p.Arg183=)
7g.151186564G>TCA458881612ASB10c.412C>A (p.Arg138=)
c.367C>A (p.Arg123=)
c.547C>A (p.Arg183=)
 gnomAD v4
7g.151186565C>ACA370036267ASB10c.411G>T (p.Arg137Ser)
c.366G>T (p.Arg122Ser)
c.546G>T (p.Arg182Ser)
7g.151186565C>GCA370036269ASB10c.411G>C (p.Arg137Ser)
c.366G>C (p.Arg122Ser)
c.546G>C (p.Arg182Ser)
7g.151186565C>TCA458881613ASB10c.411G>A (p.Arg137=)
c.366G>A (p.Arg122=)
c.546G>A (p.Arg182=)
 gnomAD v4
7g.151186566C>ACA370036272ASB10c.410G>T (p.Arg137Met)
c.365G>T (p.Arg122Met)
c.545G>T (p.Arg182Met)
7g.151186566C=CA1752545156ASB10c.410G= (p.Arg137=)
c.365G= (p.Arg122=)
c.545G= (p.Arg182=)
7g.151186566C>GCA370036273ASB10c.410G>C (p.Arg137Thr)
c.365G>C (p.Arg122Thr)
c.545G>C (p.Arg182Thr)
7g.151186566C>TCA4573893ASB10c.410G>A (p.Arg137Lys)
c.365G>A (p.Arg122Lys)
c.545G>A (p.Arg182Lys)
 dbSNP ExAC gnomAD v2
7g.151186567T>ACA370036276ASB10c.409A>T (p.Arg137Trp)
c.364A>T (p.Arg122Trp)
c.544A>T (p.Arg182Trp)
7g.151186567T>CCA370036277ASB10c.409A>G (p.Arg137Gly)
c.364A>G (p.Arg122Gly)
c.544A>G (p.Arg182Gly)
7g.151186567T>GCA458881615ASB10c.409A>C (p.Arg137=)
c.364A>C (p.Arg122=)
c.544A>C (p.Arg182=)
7g.151186568C>ACA458881616ASB10c.408G>T (p.Leu136=)
c.363G>T (p.Leu121=)
c.543G>T (p.Leu181=)
 gnomAD v4
7g.151186568C=CA1752545157ASB10c.408G= (p.Leu136=)
c.363G= (p.Leu121=)
c.543G= (p.Leu181=)
7g.151186568C>GCA458881617ASB10c.408G>C (p.Leu136=)
c.363G>C (p.Leu121=)
c.543G>C (p.Leu181=)
7g.151186568C>TCA458881618ASB10c.408G>A (p.Leu136=)
c.363G>A (p.Leu121=)
c.543G>A (p.Leu181=)
 dbSNP gnomAD v3 gnomAD v4
7g.151186569A=CA1752545160ASB10c.407T= (p.Leu136=)
c.362T= (p.Leu121=)
c.542T= (p.Leu181=)
7g.151186569A>CCA4573894ASB10c.407T>G (p.Leu136Arg)
c.362T>G (p.Leu121Arg)
c.542T>G (p.Leu181Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186569A>GCA4573895ASB10c.407T>C (p.Leu136Pro)
c.362T>C (p.Leu121Pro)
c.542T>C (p.Leu181Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186569A>TCA370036279ASB10c.407T>A (p.Leu136Gln)
c.362T>A (p.Leu121Gln)
c.542T>A (p.Leu181Gln)
 dbSNP
7g.151186570G>ACA458881621ASB10c.406C>T (p.Leu136=)
c.361C>T (p.Leu121=)
c.541C>T (p.Leu181=)
 dbSNP gnomAD v3 gnomAD v4
7g.151186570G>CCA370036282ASB10c.406C>G (p.Leu136Val)
c.361C>G (p.Leu121Val)
c.541C>G (p.Leu181Val)
7g.151186570G=CA1752545164ASB10c.406C= (p.Leu136=)
c.361C= (p.Leu121=)
c.541C= (p.Leu181=)
7g.151186570G>TCA370036283ASB10c.406C>A (p.Leu136Met)
c.361C>A (p.Leu121Met)
c.541C>A (p.Leu181Met)
7g.151186571C>ACA458881622ASB10c.405G>T (p.Leu135=)
c.360G>T (p.Leu120=)
c.540G>T (p.Leu180=)
7g.151186571C>GCA458881623ASB10c.405G>C (p.Leu135=)
c.360G>C (p.Leu120=)
c.540G>C (p.Leu180=)
7g.151186571C>TCA458881624ASB10c.405G>A (p.Leu135=)
c.360G>A (p.Leu120=)
c.540G>A (p.Leu180=)
 gnomAD v4
7g.151186572A>CCA370036284ASB10c.404T>G (p.Leu135Arg)
c.359T>G (p.Leu120Arg)
c.539T>G (p.Leu180Arg)
7g.151186572A>GCA370036286ASB10c.404T>C (p.Leu135Pro)
c.359T>C (p.Leu120Pro)
c.539T>C (p.Leu180Pro)
7g.151186572A>TCA370036287ASB10c.404T>A (p.Leu135Gln)
c.359T>A (p.Leu120Gln)
c.539T>A (p.Leu180Gln)
7g.151186573G>ACA458881627ASB10c.403C>T (p.Leu135=)
c.358C>T (p.Leu120=)
c.538C>T (p.Leu180=)
 COSMIC COSMIC COSMIC COSMIC
7g.151186573G>CCA370036289ASB10c.403C>G (p.Leu135Val)
c.358C>G (p.Leu120Val)
c.538C>G (p.Leu180Val)
7g.151186573G>TCA370036291ASB10c.403C>A (p.Leu135Met)
c.358C>A (p.Leu120Met)
c.538C>A (p.Leu180Met)
7g.151186574C>ACA458881631ASB10c.402G>T (p.Leu134=)
c.357G>T (p.Leu119=)
c.537G>T (p.Leu179=)
 dbSNP gnomAD v2 gnomAD v4
7g.151186574C=CA1752545166ASB10c.402G= (p.Leu134=)
c.357G= (p.Leu119=)
c.537G= (p.Leu179=)
7g.151186574C>GCA458881629ASB10c.402G>C (p.Leu134=)
c.357G>C (p.Leu119=)
c.537G>C (p.Leu179=)
7g.151186574C>TCA458881628ASB10c.402G>A (p.Leu134=)
c.357G>A (p.Leu119=)
c.537G>A (p.Leu179=)
7g.151186575A>CCA370036293ASB10c.401T>G (p.Leu134Arg)
c.356T>G (p.Leu119Arg)
c.536T>G (p.Leu179Arg)
7g.151186575A>GCA370036295ASB10c.401T>C (p.Leu134Pro)
c.356T>C (p.Leu119Pro)
c.536T>C (p.Leu179Pro)
7g.151186575A>TCA370036297ASB10c.401T>A (p.Leu134Gln)
c.356T>A (p.Leu119Gln)
c.536T>A (p.Leu179Gln)
7g.151186576G>ACA458881634ASB10c.400C>T (p.Leu134=)
c.355C>T (p.Leu119=)
c.535C>T (p.Leu179=)
7g.151186576G>CCA370036299ASB10c.400C>G (p.Leu134Val)
c.355C>G (p.Leu119Val)
c.535C>G (p.Leu179Val)
 dbSNP gnomAD v3 gnomAD v4
7g.151186576G=CA1752545170ASB10c.400C= (p.Leu134=)
c.355C= (p.Leu119=)
c.535C= (p.Leu179=)
7g.151186576G>TCA4573896ASB10c.400C>A (p.Leu134Met)
c.355C>A (p.Leu119Met)
c.535C>A (p.Leu179Met)
 dbSNP ExAC gnomAD v2
7g.151186577C>ACA458881635ASB10c.399G>T (p.Arg133=)
c.354G>T (p.Arg118=)
c.534G>T (p.Arg178=)
 gnomAD v4
7g.151186577C=CA1752545177ASB10c.399G= (p.Arg133=)
c.354G= (p.Arg118=)
c.534G= (p.Arg178=)
7g.151186577C>GCA458881636ASB10c.399G>C (p.Arg133=)
c.354G>C (p.Arg118=)
c.534G>C (p.Arg178=)
 dbSNP gnomAD v2
7g.151186577C>TCA458881638ASB10c.399G>A (p.Arg133=)
c.354G>A (p.Arg118=)
c.534G>A (p.Arg178=)
 gnomAD v4
7g.151186578dupCA2579066555ASB10c.399dup (p.Leu134AlafsTer?)
c.354dup (p.Leu119AlafsTer?)
c.534dup (p.Leu179AlafsTer?)
7g.151186578C>ACA169125417ASB10c.398G>T (p.Arg133Leu)
c.353G>T (p.Arg118Leu)
c.533G>T (p.Arg178Leu)
 dbSNP gnomAD v4
7g.151186578C=CA1752545180ASB10c.398G= (p.Arg133=)
c.353G= (p.Arg118=)
c.533G= (p.Arg178=)
7g.151186578C>GCA370036303ASB10c.398G>C (p.Arg133Pro)
c.353G>C (p.Arg118Pro)
c.533G>C (p.Arg178Pro)
7g.151186578C>TCA4573897ASB10c.398G>A (p.Arg133Gln)
c.353G>A (p.Arg118Gln)
c.533G>A (p.Arg178Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186579G>ACA4573898ASB10c.397C>T (p.Arg133Trp)
c.352C>T (p.Arg118Trp)
c.532C>T (p.Arg178Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186579G>CCA370036307ASB10c.397C>G (p.Arg133Gly)
c.352C>G (p.Arg118Gly)
c.532C>G (p.Arg178Gly)
7g.151186579G=CA1752545186ASB10c.397C= (p.Arg133=)
c.352C= (p.Arg118=)
c.532C= (p.Arg178=)
7g.151186579G>TCA458881642ASB10c.397C>A (p.Arg133=)
c.352C>A (p.Arg118=)
c.532C>A (p.Arg178=)
 dbSNP gnomAD v4
7g.151186580C>ACA458881643ASB10c.396G>T (p.Leu132=)
c.351G>T (p.Leu117=)
c.531G>T (p.Leu177=)
7g.151186580C=CA1752545192ASB10c.396G= (p.Leu132=)
c.351G= (p.Leu117=)
c.531G= (p.Leu177=)
7g.151186580C>GCA458881645ASB10c.396G>C (p.Leu132=)
c.351G>C (p.Leu117=)
c.531G>C (p.Leu177=)
7g.151186580C>TCA458881644ASB10c.396G>A (p.Leu132=)
c.351G>A (p.Leu117=)
c.531G>A (p.Leu177=)
 dbSNP gnomAD v2 gnomAD v4
7g.151186581A>CCA370036309ASB10c.395T>G (p.Leu132Arg)
c.350T>G (p.Leu117Arg)
c.530T>G (p.Leu177Arg)
7g.151186581A>GCA370036311ASB10c.395T>C (p.Leu132Pro)
c.350T>C (p.Leu117Pro)
c.530T>C (p.Leu177Pro)
7g.151186581A>TCA370036313ASB10c.395T>A (p.Leu132Gln)
c.350T>A (p.Leu117Gln)
c.530T>A (p.Leu177Gln)
7g.151186581dupCA1752545197ASB10c.395dup (p.Arg133AlafsTer?)
c.350dup (p.Arg118AlafsTer?)
c.530dup (p.Arg178AlafsTer?)
 dbSNP
7g.151186582G>ACA458881649ASB10c.394C>T (p.Leu132=)
c.349C>T (p.Leu117=)
c.529C>T (p.Leu177=)
7g.151186582G>CCA370036314ASB10c.394C>G (p.Leu132Val)
c.349C>G (p.Leu117Val)
c.529C>G (p.Leu177Val)
7g.151186582G>TCA370036316ASB10c.394C>A (p.Leu132Met)
c.349C>A (p.Leu117Met)
c.529C>A (p.Leu177Met)
7g.151186583G>ACA458881650ASB10c.393C>T (p.Val131=)
c.348C>T (p.Val116=)
c.528C>T (p.Val176=)
7g.151186583G>CCA458881651ASB10c.393C>G (p.Val131=)
c.348C>G (p.Val116=)
c.528C>G (p.Val176=)
7g.151186583G>TCA458881652ASB10c.393C>A (p.Val131=)
c.348C>A (p.Val116=)
c.528C>A (p.Val176=)
7g.151186584A=CA1752545201ASB10c.392T= (p.Val131=)
c.347T= (p.Val116=)
c.527T= (p.Val176=)
7g.151186584A>CCA370036318ASB10c.392T>G (p.Val131Gly)
c.347T>G (p.Val116Gly)
c.527T>G (p.Val176Gly)
7g.151186584A>GCA4573899ASB10c.392T>C (p.Val131Ala)
c.347T>C (p.Val116Ala)
c.527T>C (p.Val176Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186584A>TCA370036320ASB10c.392T>A (p.Val131Asp)
c.347T>A (p.Val116Asp)
c.527T>A (p.Val176Asp)
7g.151186585C>ACA370036322ASB10c.391G>T (p.Val131Phe)
c.346G>T (p.Val116Phe)
c.526G>T (p.Val176Phe)
7g.151186585C>GCA370036324ASB10c.391G>C (p.Val131Leu)
c.346G>C (p.Val116Leu)
c.526G>C (p.Val176Leu)
7g.151186585C>TCA370036325ASB10c.391G>A (p.Val131Ile)
c.346G>A (p.Val116Ile)
c.526G>A (p.Val176Ile)
7g.151186586T>ACA370036328ASB10c.390A>T (p.Glu130Asp)
c.345A>T (p.Glu115Asp)
c.525A>T (p.Glu175Asp)
7g.151186586T>CCA458881654ASB10c.390A>G (p.Glu130=)
c.345A>G (p.Glu115=)
c.525A>G (p.Glu175=)
7g.151186586T>GCA370036327ASB10c.390A>C (p.Glu130Asp)
c.345A>C (p.Glu115Asp)
c.525A>C (p.Glu175Asp)
7g.151186587T>ACA370036331ASB10c.389A>T (p.Glu130Val)
c.344A>T (p.Glu115Val)
c.524A>T (p.Glu175Val)
7g.151186587T>CCA4573900ASB10c.389A>G (p.Glu130Gly)
c.344A>G (p.Glu115Gly)
c.524A>G (p.Glu175Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186587T>GCA370036333ASB10c.389A>C (p.Glu130Ala)
c.344A>C (p.Glu115Ala)
c.524A>C (p.Glu175Ala)
7g.151186587T=CA1752545207ASB10c.389A= (p.Glu130=)
c.344A= (p.Glu115=)
c.524A= (p.Glu175=)
7g.151186587_151186588insTGCA2685657520ASB10c.388_389insCA (p.Glu130AlafsTer8)
c.343_344insCA (p.Glu115AlafsTer8)
c.523_524insCA (p.Glu175AlafsTer8)
 gnomAD v4
7g.151186588C>ACA370036336ASB10c.388G>T (p.Glu130Ter)
c.343G>T (p.Glu115Ter)
c.523G>T (p.Glu175Ter)
7g.151186588C>GCA370036337ASB10c.388G>C (p.Glu130Gln)
c.343G>C (p.Glu115Gln)
c.523G>C (p.Glu175Gln)
7g.151186588C>TCA370036339ASB10c.388G>A (p.Glu130Lys)
c.343G>A (p.Glu115Lys)
c.523G>A (p.Glu175Lys)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186589delCA2685657521ASB10c.388del (p.Glu130LysfsTer7)
c.343del (p.Glu115LysfsTer7)
c.523del (p.Glu175LysfsTer7)
 gnomAD v4
7g.151186589C>ACA458881656ASB10c.387G>T (p.Thr129=)
c.342G>T (p.Thr114=)
c.522G>T (p.Thr174=)
7g.151186589C=CA1752545210ASB10c.387G= (p.Thr129=)
c.342G= (p.Thr114=)
c.522G= (p.Thr174=)
7g.151186589C>GCA458881655ASB10c.387G>C (p.Thr129=)
c.342G>C (p.Thr114=)
c.522G>C (p.Thr174=)
7g.151186589C>TCA169125436ASB10c.387G>A (p.Thr129=)
c.342G>A (p.Thr114=)
c.522G>A (p.Thr174=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186590G>ACA4573901ASB10c.386C>T (p.Thr129Met)
c.341C>T (p.Thr114Met)
c.521C>T (p.Thr174Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186590G>CCA370036343ASB10c.386C>G (p.Thr129Arg)
c.341C>G (p.Thr114Arg)
c.521C>G (p.Thr174Arg)
 gnomAD v4
7g.151186590G=CA1752545218ASB10c.386C= (p.Thr129=)
c.341C= (p.Thr114=)
c.521C= (p.Thr174=)
7g.151186590G>TCA370036345ASB10c.386C>A (p.Thr129Lys)
c.341C>A (p.Thr114Lys)
c.521C>A (p.Thr174Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186591T>ACA370036347ASB10c.385A>T (p.Thr129Ser)
c.340A>T (p.Thr114Ser)
c.520A>T (p.Thr174Ser)
7g.151186591T>CCA370036348ASB10c.385A>G (p.Thr129Ala)
c.340A>G (p.Thr114Ala)
c.520A>G (p.Thr174Ala)
 gnomAD v4
7g.151186591T>GCA370036349ASB10c.385A>C (p.Thr129Pro)
c.340A>C (p.Thr114Pro)
c.520A>C (p.Thr174Pro)
7g.151186592G>ACA458881657ASB10c.384C>T (p.His128=)
c.339C>T (p.His113=)
c.519C>T (p.His173=)
7g.151186592G>CCA370036350ASB10c.384C>G (p.His128Gln)
c.339C>G (p.His113Gln)
c.519C>G (p.His173Gln)
7g.151186592G>TCA370036351ASB10c.384C>A (p.His128Gln)
c.339C>A (p.His113Gln)
c.519C>A (p.His173Gln)
7g.151186593T>ACA370036352ASB10c.383A>T (p.His128Leu)
c.338A>T (p.His113Leu)
c.518A>T (p.His173Leu)
7g.151186593T>CCA370036353ASB10c.383A>G (p.His128Arg)
c.338A>G (p.His113Arg)
c.518A>G (p.His173Arg)
7g.151186593T>GCA4573902ASB10c.383A>C (p.His128Pro)
c.338A>C (p.His113Pro)
c.518A>C (p.His173Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186593T=CA1752545221ASB10c.383A= (p.His128=)
c.338A= (p.His113=)
c.518A= (p.His173=)
7g.151186597_151186606delCA2778433434ASB10c.374_383del (p.Ser125ThrfsTer9)
c.329_338del (p.Ser110ThrfsTer9)
c.509_518del (p.Ser170ThrfsTer9)
7g.151186594G>ACA370036354ASB10c.382C>T (p.His128Tyr)
c.337C>T (p.His113Tyr)
c.517C>T (p.His173Tyr)
7g.151186594G>CCA370036356ASB10c.382C>G (p.His128Asp)
c.337C>G (p.His113Asp)
c.517C>G (p.His173Asp)
7g.151186594G>TCA370036355ASB10c.382C>A (p.His128Asn)
c.337C>A (p.His113Asn)
c.517C>A (p.His173Asn)
7g.151186595G>ACA458881661ASB10c.381C>T (p.Gly127=)
c.336C>T (p.Gly112=)
c.516C>T (p.Gly172=)
 gnomAD v4
7g.151186595G>CCA458881662ASB10c.381C>G (p.Gly127=)
c.336C>G (p.Gly112=)
c.516C>G (p.Gly172=)
7g.151186595G>TCA458881663ASB10c.381C>A (p.Gly127=)
c.336C>A (p.Gly112=)
c.516C>A (p.Gly172=)
 gnomAD v4
7g.151186596C>ACA370036357ASB10c.380G>T (p.Gly127Val)
c.335G>T (p.Gly112Val)
c.515G>T (p.Gly172Val)
 gnomAD v4
7g.151186596C=CA1752545226ASB10c.380G= (p.Gly127=)
c.335G= (p.Gly112=)
c.515G= (p.Gly172=)
7g.151186596C>GCA370036358ASB10c.380G>C (p.Gly127Ala)
c.335G>C (p.Gly112Ala)
c.515G>C (p.Gly172Ala)
7g.151186596C>TCA370036359ASB10c.380G>A (p.Gly127Asp)
c.335G>A (p.Gly112Asp)
c.515G>A (p.Gly172Asp)
 dbSNP
7g.151186597C>ACA370036360ASB10c.379G>T (p.Gly127Cys)
c.334G>T (p.Gly112Cys)
c.514G>T (p.Gly172Cys)
7g.151186597C>GCA370036361ASB10c.379G>C (p.Gly127Arg)
c.334G>C (p.Gly112Arg)
c.514G>C (p.Gly172Arg)
7g.151186597C>TCA370036362ASB10c.379G>A (p.Gly127Ser)
c.334G>A (p.Gly112Ser)
c.514G>A (p.Gly172Ser)
7g.151186598A=CA1752545229ASB10c.378T= (p.Arg126=)
c.333T= (p.Arg111=)
c.513T= (p.Arg171=)
7g.151186598A>CCA458881667ASB10c.378T>G (p.Arg126=)
c.333T>G (p.Arg111=)
c.513T>G (p.Arg171=)
7g.151186598A>GCA458881668ASB10c.378T>C (p.Arg126=)
c.333T>C (p.Arg111=)
c.513T>C (p.Arg171=)
 gnomAD v4
7g.151186598A>TCA458881669ASB10c.378T>A (p.Arg126=)
c.333T>A (p.Arg111=)
c.513T>A (p.Arg171=)
 dbSNP gnomAD v3 gnomAD v4
7g.151186599C>ACA370036363ASB10c.377G>T (p.Arg126Leu)
c.332G>T (p.Arg111Leu)
c.512G>T (p.Arg171Leu)
7g.151186599C=CA1752545239ASB10c.377G= (p.Arg126=)
c.332G= (p.Arg111=)
c.512G= (p.Arg171=)
7g.151186599C>GCA370036364ASB10c.377G>C (p.Arg126Pro)
c.332G>C (p.Arg111Pro)
c.512G>C (p.Arg171Pro)
 gnomAD v4
7g.151186599C>TCA4573903ASB10c.377G>A (p.Arg126His)
c.332G>A (p.Arg111His)
c.512G>A (p.Arg171His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186600G>ACA4573904ASB10c.376C>T (p.Arg126Cys)
c.331C>T (p.Arg111Cys)
c.511C>T (p.Arg171Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186600G>CCA370036365ASB10c.376C>G (p.Arg126Gly)
c.331C>G (p.Arg111Gly)
c.511C>G (p.Arg171Gly)
7g.151186600G=CA1752545243ASB10c.376C= (p.Arg126=)
c.331C= (p.Arg111=)
c.511C= (p.Arg171=)
7g.151186600G>TCA370036366ASB10c.376C>A (p.Arg126Ser)
c.331C>A (p.Arg111Ser)
c.511C>A (p.Arg171Ser)
7g.151186601G>ACA458881670ASB10c.375C>T (p.Ser125=)
c.330C>T (p.Ser110=)
c.510C>T (p.Ser170=)
 gnomAD v4
7g.151186601G>CCA370036367ASB10c.375C>G (p.Ser125Arg)
c.330C>G (p.Ser110Arg)
c.510C>G (p.Ser170Arg)
7g.151186601G>TCA370036368ASB10c.375C>A (p.Ser125Arg)
c.330C>A (p.Ser110Arg)
c.510C>A (p.Ser170Arg)
7g.151186602C>ACA370036369ASB10c.374G>T (p.Ser125Ile)
c.329G>T (p.Ser110Ile)
c.509G>T (p.Ser170Ile)
7g.151186602C=CA1752545247ASB10c.374G= (p.Ser125=)
c.329G= (p.Ser110=)
c.509G= (p.Ser170=)
7g.151186602C>GCA370036370ASB10c.374G>C (p.Ser125Thr)
c.329G>C (p.Ser110Thr)
c.509G>C (p.Ser170Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.151186602C>TCA370036371ASB10c.374G>A (p.Ser125Asn)
c.329G>A (p.Ser110Asn)
c.509G>A (p.Ser170Asn)
7g.151186603T>ACA370036372ASB10c.373A>T (p.Ser125Cys)
c.328A>T (p.Ser110Cys)
c.508A>T (p.Ser170Cys)
7g.151186603T>CCA370036373ASB10c.373A>G (p.Ser125Gly)
c.328A>G (p.Ser110Gly)
c.508A>G (p.Ser170Gly)
7g.151186603T>GCA370036374ASB10c.373A>C (p.Ser125Arg)
c.328A>C (p.Ser110Arg)
c.508A>C (p.Ser170Arg)
7g.151186604G>ACA4573905ASB10c.372C>T (p.Ala124=)
c.327C>T (p.Ala109=)
c.507C>T (p.Ala169=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186604G>CCA458881674ASB10c.372C>G (p.Ala124=)
c.327C>G (p.Ala109=)
c.507C>G (p.Ala169=)
7g.151186604G=CA1752545252ASB10c.372C= (p.Ala124=)
c.327C= (p.Ala109=)
c.507C= (p.Ala169=)
7g.151186604G>TCA458881675ASB10c.372C>A (p.Ala124=)
c.327C>A (p.Ala109=)
c.507C>A (p.Ala169=)
7g.151186605G>ACA4573907ASB10c.371C>T (p.Ala124Val)
c.326C>T (p.Ala109Val)
c.506C>T (p.Ala169Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186605G>CCA4573906ASB10c.371C>G (p.Ala124Gly)
c.326C>G (p.Ala109Gly)
c.506C>G (p.Ala169Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186605G=CA1752545256ASB10c.371C= (p.Ala124=)
c.326C= (p.Ala109=)
c.506C= (p.Ala169=)
7g.151186605G>TCA370036375ASB10c.371C>A (p.Ala124Asp)
c.326C>A (p.Ala109Asp)
c.506C>A (p.Ala169Asp)
7g.151186606C>ACA370036377ASB10c.370G>T (p.Ala124Ser)
c.325G>T (p.Ala109Ser)
c.505G>T (p.Ala169Ser)
 gnomAD v4
7g.151186606C=CA1752545263ASB10c.370G= (p.Ala124=)
c.325G= (p.Ala109=)
c.505G= (p.Ala169=)
7g.151186606C>GCA169125452ASB10c.370G>C (p.Ala124Pro)
c.325G>C (p.Ala109Pro)
c.505G>C (p.Ala169Pro)
 dbSNP gnomAD v4
7g.151186606C>TCA370036376ASB10c.370G>A (p.Ala124Thr)
c.325G>A (p.Ala109Thr)
c.505G>A (p.Ala169Thr)
7g.151186607T>ACA458881679ASB10c.369A>T (p.Ala123=)
c.324A>T (p.Ala108=)
c.504A>T (p.Ala168=)
7g.151186607T>CCA458881680ASB10c.369A>G (p.Ala123=)
c.324A>G (p.Ala108=)
c.504A>G (p.Ala168=)
7g.151186607T>GCA458881681ASB10c.369A>C (p.Ala123=)
c.324A>C (p.Ala108=)
c.504A>C (p.Ala168=)
7g.151186608G>ACA370036378ASB10c.368C>T (p.Ala123Val)
c.323C>T (p.Ala108Val)
c.503C>T (p.Ala168Val)
7g.151186608G>CCA370036379ASB10c.368C>G (p.Ala123Gly)
c.323C>G (p.Ala108Gly)
c.503C>G (p.Ala168Gly)
7g.151186608G>TCA370036380ASB10c.368C>A (p.Ala123Glu)
c.323C>A (p.Ala108Glu)
c.503C>A (p.Ala168Glu)
7g.151186609C>ACA370036381ASB10c.367G>T (p.Ala123Ser)
c.322G>T (p.Ala108Ser)
c.502G>T (p.Ala168Ser)
7g.151186609C>GCA370036382ASB10c.367G>C (p.Ala123Pro)
c.322G>C (p.Ala108Pro)
c.502G>C (p.Ala168Pro)
7g.151186609C>TCA370036383ASB10c.367G>A (p.Ala123Thr)
c.322G>A (p.Ala108Thr)
c.502G>A (p.Ala168Thr)
 gnomAD v4
7g.151186610C>ACA458881686ASB10c.366G>T (p.Val122=)
c.321G>T (p.Val107=)
c.501G>T (p.Val167=)
7g.151186610C>GCA458881684ASB10c.366G>C (p.Val122=)
c.321G>C (p.Val107=)
c.501G>C (p.Val167=)
7g.151186610C>TCA458881682ASB10c.366G>A (p.Val122=)
c.321G>A (p.Val107=)
c.501G>A (p.Val167=)
 gnomAD v4
7g.151186611A=CA1752545268ASB10c.365T= (p.Val122=)
c.320T= (p.Val107=)
c.500T= (p.Val167=)
7g.151186611A>CCA4573908ASB10c.365T>G (p.Val122Gly)
c.320T>G (p.Val107Gly)
c.500T>G (p.Val167Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186611A>GCA370036384ASB10c.365T>C (p.Val122Ala)
c.320T>C (p.Val107Ala)
c.500T>C (p.Val167Ala)
7g.151186611A>TCA370036385ASB10c.365T>A (p.Val122Glu)
c.320T>A (p.Val107Glu)
c.500T>A (p.Val167Glu)
7g.151186612C>ACA370036386ASB10c.364G>T (p.Val122Leu)
c.319G>T (p.Val107Leu)
c.499G>T (p.Val167Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186612C=CA1752545276ASB10c.364G= (p.Val122=)
c.319G= (p.Val107=)
c.499G= (p.Val167=)
7g.151186612C>GCA370036387ASB10c.364G>C (p.Val122Leu)
c.319G>C (p.Val107Leu)
c.499G>C (p.Val167Leu)
7g.151186612C>TCA370036388ASB10c.364G>A (p.Val122Met)
c.319G>A (p.Val107Met)
c.499G>A (p.Val167Met)

Number of alleles fetched