Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.81646365delCA2499867GBE1c.782+31del (n.782+31del)
c.659+31del (n.659+31del)
n.332+31del
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.81646362A>GCA2666623867GBE1c.782+30T>C (n.782+30T>C)
c.659+30T>C (n.659+30T>C)
n.332+30T>C
 gnomAD v4
3g.81646363A=CA1378729086GBE1c.782+29T= (n.782+29T=)
c.659+29T= (n.659+29T=)
n.332+29T=
3g.81646363A>GCA2666623868GBE1c.782+29T>C (n.782+29T>C)
c.659+29T>C (n.659+29T>C)
n.332+29T>C
 gnomAD v4
3g.81646363A>TCA1378729087GBE1c.782+29T>A (n.782+29T>A)
c.659+29T>A (n.659+29T>A)
n.332+29T>A
 dbSNP
3g.81646364A>GCA2666623869GBE1c.782+28T>C (n.782+28T>C)
c.659+28T>C (n.659+28T>C)
n.332+28T>C
 gnomAD v4
3g.81646365A>GCA2666623870GBE1c.782+27T>C (n.782+27T>C)
c.659+27T>C (n.659+27T>C)
n.332+27T>C
 gnomAD v4
3g.81646365A>TCA2666623871GBE1c.782+27T>A (n.782+27T>A)
c.659+27T>A (n.659+27T>A)
n.332+27T>A
 gnomAD v4
3g.81646366T>CCA2499868GBE1c.782+26A>G (n.782+26A>G)
c.659+26A>G (n.659+26A>G)
n.332+26A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.81646366T>GCA2666623872GBE1c.782+26A>C (n.782+26A>C)
c.659+26A>C (n.659+26A>C)
n.332+26A>C
 gnomAD v4
3g.81646366T=CA1378729088GBE1c.782+26A= (n.782+26A=)
c.659+26A= (n.659+26A=)
n.332+26A=
3g.81646367G>ACA2666623873GBE1c.782+25C>T (n.782+25C>T)
c.659+25C>T (n.659+25C>T)
n.332+25C>T
 gnomAD v4
3g.81646367G>TCA2666623874GBE1c.782+25C>A (n.782+25C>A)
c.659+25C>A (n.659+25C>A)
n.332+25C>A
 gnomAD v4
3g.81646369A>GCA2666623875GBE1c.782+23T>C (n.782+23T>C)
c.659+23T>C (n.659+23T>C)
n.332+23T>C
 gnomAD v4
3g.81646370C=CA1378729089GBE1c.782+22G= (n.782+22G=)
c.659+22G= (n.659+22G=)
n.332+22G=
3g.81646370C>TCA1050115951GBE1c.782+22G>A (n.782+22G>A)
c.659+22G>A (n.659+22G>A)
n.332+22G>A
 dbSNP gnomAD v3 gnomAD v4
3g.81646371A>GCA2666623876GBE1c.782+21T>C (n.782+21T>C)
c.659+21T>C (n.659+21T>C)
n.332+21T>C
 gnomAD v4
3g.81646372C=CA1378729090GBE1c.782+20G= (n.782+20G=)
c.659+20G= (n.659+20G=)
n.332+20G=
3g.81646372C>TCA544277739GBE1c.782+20G>A (n.782+20G>A)
c.659+20G>A (n.659+20G>A)
n.332+20G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.81646373A=CA1378729091GBE1c.782+19T= (n.782+19T=)
c.659+19T= (n.659+19T=)
n.332+19T=
3g.81646373A>GCA544277743GBE1c.782+19T>C (n.782+19T>C)
c.659+19T>C (n.659+19T>C)
n.332+19T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.81646374A>GCA2666623877GBE1c.782+18T>C (n.782+18T>C)
c.659+18T>C (n.659+18T>C)
n.332+18T>C
 ClinVar gnomAD v4
3g.81646375T>CCA78292183GBE1c.782+17A>G (n.782+17A>G)
c.659+17A>G (n.659+17A>G)
n.332+17A>G
 dbSNP gnomAD v3 gnomAD v4
3g.81646375T=CA1378729092GBE1c.782+17A= (n.782+17A=)
c.659+17A= (n.659+17A=)
n.332+17A=
3g.81646376G>ACA2666623878GBE1c.782+16C>T (n.782+16C>T)
c.659+16C>T (n.659+16C>T)
n.332+16C>T
 gnomAD v4
3g.81646376G>TCA2666623879GBE1c.782+16C>A (n.782+16C>A)
c.659+16C>A (n.659+16C>A)
n.332+16C>A
 gnomAD v4
3g.81646377A>GCA2666623880GBE1c.782+15T>C (n.782+15T>C)
c.659+15T>C (n.659+15T>C)
n.332+15T>C
 gnomAD v4
3g.81646377A>TCA2666623881GBE1c.782+15T>A (n.782+15T>A)
c.659+15T>A (n.659+15T>A)
n.332+15T>A
 gnomAD v4
3g.81646378G>TCA2577825866GBE1c.782+14C>A (n.782+14C>A)
c.659+14C>A (n.659+14C>A)
n.332+14C>A
 gnomAD v4
3g.81646379T>ACA2666623882GBE1c.782+13A>T (n.782+13A>T)
c.659+13A>T (n.659+13A>T)
n.332+13A>T
 gnomAD v4
3g.81646379T>CCA2666623883GBE1c.782+13A>G (n.782+13A>G)
c.659+13A>G (n.659+13A>G)
n.332+13A>G
 gnomAD v4
3g.81646381T>ACA2666623884GBE1c.782+11A>T (n.782+11A>T)
c.659+11A>T (n.659+11A>T)
n.332+11A>T
 gnomAD v4
3g.81646381T>CCA2577825867GBE1c.782+11A>G (n.782+11A>G)
c.659+11A>G (n.659+11A>G)
n.332+11A>G
 gnomAD v4
3g.81646381T>GCA2577825868GBE1c.782+11A>C (n.782+11A>C)
c.659+11A>C (n.659+11A>C)
n.332+11A>C
3g.81646383T>CCA2666623885GBE1c.782+9A>G (n.782+9A>G)
c.659+9A>G (n.659+9A>G)
n.332+9A>G
 gnomAD v4
3g.81646384G>TCA2666623886GBE1c.782+8C>A (n.782+8C>A)
c.659+8C>A (n.659+8C>A)
n.332+8C>A
 gnomAD v4
3g.81646384_81646385delCA2542255062GBE1c.782+7_782+8del (n.782+7_782+8del)
c.659+7_659+8del (n.659+7_659+8del)
n.332+7_332+8del
3g.81646385A=CA1378729093GBE1c.782+7T= (n.782+7T=)
c.659+7T= (n.659+7T=)
n.332+7T=
3g.81646385A>CCA1050115954GBE1c.782+7T>G (n.782+7T>G)
c.659+7T>G (n.659+7T>G)
n.332+7T>G
 dbSNP gnomAD v3 gnomAD v4
3g.81646389delCA2577825869GBE1c.782+6del (n.782+6del)
c.659+6del (n.659+6del)
n.332+6del
3g.81646386_81646387insCTCCTCCAGCCCA2500780184GBE1c.782+5_782+6insGGCTGGAGGAG (n.782+5_782+6insGGCTGGAGGAG)
c.659+5_659+6insGGCTGGAGGAG (n.659+5_659+6insGGCTGGAGGAG)
n.332+5_332+6insGGCTGGAGGAG
3g.81646388T>CCA2666623887GBE1c.782+4A>G (n.782+4A>G)
c.659+4A>G (n.659+4A>G)
n.332+4A>G
 gnomAD v4
3g.81646389T>CCA2577825870GBE1c.782+3A>G (n.782+3A>G)
c.659+3A>G (n.659+3A>G)
n.332+3A>G
 gnomAD v4
3g.81646394_81649923delCA2580101946GBE1c.433_782+3del
c.310_659+3del
3g.81646390A>CCA353687986GBE1c.782+2T>G (n.782+2T>G)
c.659+2T>G (n.659+2T>G)
n.332+2T>G
3g.81646390A>GCA353687987GBE1c.782+2T>C (n.782+2T>C)
c.659+2T>C (n.659+2T>C)
n.332+2T>C
 gnomAD v4
3g.81646390A>TCA353687988GBE1c.782+2T>A (n.782+2T>A)
c.659+2T>A (n.659+2T>A)
n.332+2T>A
 gnomAD v4
3g.81646390dupCA2666623888GBE1c.782+2dup (n.782+2dup)
c.659+2dup (n.659+2dup)
n.332+2dup
 gnomAD v4
3g.81646391C>ACA2499869GBE1c.782+1G>T (n.782+1G>T)
c.659+1G>T (n.659+1G>T)
n.332+1G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.81646391C=CA1378729094GBE1c.782+1G= (n.782+1G=)
c.659+1G= (n.659+1G=)
n.332+1G=
3g.81646391C>GCA353687990GBE1c.782+1G>C (n.782+1G>C)
c.659+1G>C (n.659+1G>C)
n.332+1G>C
3g.81646391C>TCA353687989GBE1c.782+1G>A (n.782+1G>A)
c.659+1G>A (n.659+1G>A)
n.332+1G>A
 gnomAD v4
3g.81646392C>ACA353687991GBE1c.782G>T (p.Ser261Ile)
c.659G>T (p.Ser220Ile)
n.332G>T
 gnomAD v4
3g.81646392C>GCA353687992GBE1c.782G>C (p.Ser261Thr)
c.659G>C (p.Ser220Thr)
n.332G>C
 gnomAD v4
3g.81646392C>TCA353687993GBE1c.782G>A (p.Ser261Asn)
c.659G>A (p.Ser220Asn)
n.332G>A
3g.81646393delCA2577825871GBE1c.781del (p.Ser261AlafsTer13)
c.658del (p.Ser220AlafsTer13)
n.331del
3g.81646393T>ACA353687994GBE1c.781A>T (p.Ser261Cys)
c.658A>T (p.Ser220Cys)
n.331A>T
3g.81646393T>CCA353687995GBE1c.781A>G (p.Ser261Gly)
c.658A>G (p.Ser220Gly)
n.331A>G
 gnomAD v4
3g.81646393T>GCA353687996GBE1c.781A>C (p.Ser261Arg)
c.658A>C (p.Ser220Arg)
n.331A>C
 dbSNP
3g.81646393T=CA1378729095GBE1c.781A= (p.Ser261=)
c.658A= (p.Ser220=)
n.331A=
3g.81646394G>ACA434493938GBE1c.780C>T (p.Ser260=)
c.657C>T (p.Ser219=)
n.330C>T
 gnomAD v4
3g.81646394G>CCA434493939GBE1c.780C>G (p.Ser260=)
c.657C>G (p.Ser219=)
n.330C>G
3g.81646394G>TCA434493940GBE1c.780C>A (p.Ser260=)
c.657C>A (p.Ser219=)
n.330C>A
3g.81646395G>ACA353687997GBE1c.779C>T (p.Ser260Phe)
c.656C>T (p.Ser219Phe)
n.329C>T
 dbSNP
3g.81646395G>CCA2499870GBE1c.779C>G (p.Ser260Cys)
c.656C>G (p.Ser219Cys)
n.329C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.81646395G=CA1378729096GBE1c.779C= (p.Ser260=)
c.656C= (p.Ser219=)
n.329C=
3g.81646395G>TCA353687998GBE1c.779C>A (p.Ser260Tyr)
c.656C>A (p.Ser219Tyr)
n.329C>A
3g.81646396A>CCA353687999GBE1c.778T>G (p.Ser260Ala)
c.655T>G (p.Ser219Ala)
n.328T>G
3g.81646396A>GCA353688000GBE1c.778T>C (p.Ser260Pro)
c.655T>C (p.Ser219Pro)
n.328T>C
 gnomAD v4
3g.81646396A>TCA353688001GBE1c.778T>A (p.Ser260Thr)
c.655T>A (p.Ser219Thr)
n.328T>A
3g.81646397A>CCA434493941GBE1c.777T>G (p.Ala259=)
c.654T>G (p.Ala218=)
n.327T>G
3g.81646397A>GCA434493943GBE1c.777T>C (p.Ala259=)
c.654T>C (p.Ala218=)
n.327T>C
 gnomAD v4
3g.81646397A>TCA434493942GBE1c.777T>A (p.Ala259=)
c.654T>A (p.Ala218=)
n.327T>A
3g.81646398G>ACA353688003GBE1c.776C>T (p.Ala259Val)
c.653C>T (p.Ala218Val)
n.326C>T
3g.81646398G>CCA353688004GBE1c.776C>G (p.Ala259Gly)
c.653C>G (p.Ala218Gly)
n.326C>G
 ClinVar dbSNP
3g.81646398G=CA1378729097GBE1c.776C= (p.Ala259=)
c.653C= (p.Ala218=)
n.326C=
3g.81646398G>TCA353688002GBE1c.776C>A (p.Ala259Asp)
c.653C>A (p.Ala218Asp)
n.326C>A
 gnomAD v4
3g.81646399C>ACA353688005GBE1c.775G>T (p.Ala259Ser)
c.652G>T (p.Ala218Ser)
n.325G>T
 dbSNP
3g.81646399C=CA1378729098GBE1c.775G= (p.Ala259=)
c.652G= (p.Ala218=)
n.325G=
3g.81646399C>GCA353688006GBE1c.775G>C (p.Ala259Pro)
c.652G>C (p.Ala218Pro)
n.325G>C
3g.81646399C>TCA2499871GBE1c.775G>A (p.Ala259Thr)
c.652G>A (p.Ala218Thr)
n.325G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.81646400T>ACA434493944GBE1c.774A>T (p.Ala258=)
c.651A>T (p.Ala217=)
n.324A>T
3g.81646400T>CCA434493945GBE1c.774A>G (p.Ala258=)
c.651A>G (p.Ala217=)
n.324A>G
3g.81646400T>GCA434493946GBE1c.774A>C (p.Ala258=)
c.651A>C (p.Ala217=)
n.324A>C
 ClinVar dbSNP
3g.81646400T=CA1378729099GBE1c.774A= (p.Ala258=)
c.651A= (p.Ala217=)
n.324A=
3g.81646401G>ACA353688007GBE1c.773C>T (p.Ala258Val)
c.650C>T (p.Ala217Val)
n.323C>T
 dbSNP gnomAD v4
3g.81646401G>CCA353688008GBE1c.773C>G (p.Ala258Gly)
c.650C>G (p.Ala217Gly)
n.323C>G
3g.81646401G=CA1378729100GBE1c.773C= (p.Ala258=)
c.650C= (p.Ala217=)
n.323C=
3g.81646401G>TCA353688009GBE1c.773C>A (p.Ala258Glu)
c.650C>A (p.Ala217Glu)
n.323C>A
 gnomAD v4
3g.81646402C>ACA353688012GBE1c.772G>T (p.Ala258Ser)
c.649G>T (p.Ala217Ser)
n.322G>T
3g.81646402C>GCA353688010GBE1c.772G>C (p.Ala258Pro)
c.649G>C (p.Ala217Pro)
n.322G>C
3g.81646402C>TCA353688011GBE1c.772G>A (p.Ala258Thr)
c.649G>A (p.Ala217Thr)
n.322G>A
3g.81646403A=CA1378729101GBE1c.771T= (p.Phe257=)
c.648T= (p.Phe216=)
n.321T=
3g.81646403A>CCA353688013GBE1c.771T>G (p.Phe257Leu)
c.648T>G (p.Phe216Leu)
n.321T>G
3g.81646403A>GCA434493947GBE1c.771T>C (p.Phe257=)
c.648T>C (p.Phe216=)
n.321T>C
3g.81646403A>TCA115749GBE1c.771T>A (p.Phe257Leu)
c.648T>A (p.Phe216Leu)
n.321T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.81646404A=CA1378729102GBE1c.770T= (p.Phe257=)
c.647T= (p.Phe216=)
n.320T=
3g.81646404A>CCA353688014GBE1c.770T>G (p.Phe257Cys)
c.647T>G (p.Phe216Cys)
n.320T>G
3g.81646404A>GCA353688015GBE1c.770T>C (p.Phe257Ser)
c.647T>C (p.Phe216Ser)
n.320T>C
 ClinVar dbSNP
3g.81646404A>TCA353688016GBE1c.770T>A (p.Phe257Tyr)
c.647T>A (p.Phe216Tyr)
n.320T>A
3g.81646405A>CCA353688019GBE1c.769T>G (p.Phe257Val)
c.646T>G (p.Phe216Val)
n.319T>G
3g.81646405A>GCA353688018GBE1c.769T>C (p.Phe257Leu)
c.646T>C (p.Phe216Leu)
n.319T>C
3g.81646405A>TCA353688017GBE1c.769T>A (p.Phe257Ile)
c.646T>A (p.Phe216Ile)
n.319T>A
3g.81646406G>ACA434493948GBE1c.768C>T (p.Phe256=)
c.645C>T (p.Phe215=)
n.318C>T
 ClinVar dbSNP
3g.81646406G>CCA353688020GBE1c.768C>G (p.Phe256Leu)
c.645C>G (p.Phe215Leu)
n.318C>G
3g.81646406G=CA1378729103GBE1c.768C= (p.Phe256=)
c.645C= (p.Phe215=)
n.318C=
3g.81646406G>TCA353688021GBE1c.768C>A (p.Phe256Leu)
c.645C>A (p.Phe215Leu)
n.318C>A
3g.81646407A>CCA353688022GBE1c.767T>G (p.Phe256Cys)
c.644T>G (p.Phe215Cys)
n.317T>G
3g.81646407A>GCA353688023GBE1c.767T>C (p.Phe256Ser)
c.644T>C (p.Phe215Ser)
n.317T>C
3g.81646407A>TCA353688024GBE1c.767T>A (p.Phe256Tyr)
c.644T>A (p.Phe215Tyr)
n.317T>A
3g.81646408A>CCA353688025GBE1c.766T>G (p.Phe256Val)
c.643T>G (p.Phe215Val)
n.316T>G
 COSMIC COSMIC
3g.81646408A>GCA353688026GBE1c.766T>C (p.Phe256Leu)
c.643T>C (p.Phe215Leu)
n.316T>C
3g.81646408A>TCA353688027GBE1c.766T>A (p.Phe256Ile)
c.643T>A (p.Phe215Ile)
n.316T>A
3g.81646409G>ACA434493949GBE1c.765C>T (p.Ser255=)
c.642C>T (p.Ser214=)
n.315C>T
 gnomAD v4
3g.81646409G>CCA353688028GBE1c.765C>G (p.Ser255Arg)
c.642C>G (p.Ser214Arg)
n.315C>G
 gnomAD v4
3g.81646409G>TCA353688029GBE1c.765C>A (p.Ser255Arg)
c.642C>A (p.Ser214Arg)
n.315C>A
 gnomAD v4
3g.81646410C>ACA353688030GBE1c.764G>T (p.Ser255Ile)
c.641G>T (p.Ser214Ile)
n.314G>T
3g.81646410C=CA1378729104GBE1c.764G= (p.Ser255=)
c.641G= (p.Ser214=)
n.314G=
3g.81646410C>GCA353688031GBE1c.764G>C (p.Ser255Thr)
c.641G>C (p.Ser214Thr)
n.314G>C
 gnomAD v4
3g.81646410C>TCA353688032GBE1c.764G>A (p.Ser255Asn)
c.641G>A (p.Ser214Asn)
n.314G>A
 dbSNP gnomAD v2 gnomAD v4
3g.81646411T>ACA353688033GBE1c.763A>T (p.Ser255Cys)
c.640A>T (p.Ser214Cys)
n.313A>T
3g.81646411T>CCA353688034GBE1c.763A>G (p.Ser255Gly)
c.640A>G (p.Ser214Gly)
n.313A>G
3g.81646411T>GCA353688035GBE1c.763A>C (p.Ser255Arg)
c.640A>C (p.Ser214Arg)
n.313A>C
3g.81646412T>ACA434493950GBE1c.762A>T (p.Thr254=)
c.639A>T (p.Thr213=)
n.312A>T
3g.81646412T>CCA434493951GBE1c.762A>G (p.Thr254=)
c.639A>G (p.Thr213=)
n.312A>G
 ClinVar
3g.81646412T>GCA434493952GBE1c.762A>C (p.Thr254=)
c.639A>C (p.Thr213=)
n.312A>C
3g.81646413G>ACA353688036GBE1c.761C>T (p.Thr254Ile)
c.638C>T (p.Thr213Ile)
n.311C>T
3g.81646413G>CCA353688038GBE1c.761C>G (p.Thr254Arg)
c.638C>G (p.Thr213Arg)
n.311C>G
3g.81646413G>TCA353688037GBE1c.761C>A (p.Thr254Lys)
c.638C>A (p.Thr213Lys)
n.311C>A
3g.81646414T>ACA353688039GBE1c.760A>T (p.Thr254Ser)
c.637A>T (p.Thr213Ser)
n.310A>T
3g.81646414T>CCA2499872GBE1c.760A>G (p.Thr254Ala)
c.637A>G (p.Thr213Ala)
n.310A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.81646414T>GCA353688040GBE1c.760A>C (p.Thr254Pro)
c.637A>C (p.Thr213Pro)
n.310A>C
3g.81646414T=CA1378729105GBE1c.760A= (p.Thr254=)
c.637A= (p.Thr213=)
n.310A=
3g.81646415G>ACA434493953GBE1c.759C>T (p.Ile253=)
c.636C>T (p.Ile212=)
n.309C>T
3g.81646415G>CCA353688041GBE1c.759C>G (p.Ile253Met)
c.636C>G (p.Ile212Met)
n.309C>G
3g.81646415G>TCA434493954GBE1c.759C>A (p.Ile253=)
c.636C>A (p.Ile212=)
n.309C>A
3g.81646416A>CCA353688042GBE1c.758T>G (p.Ile253Ser)
c.635T>G (p.Ile212Ser)
n.308T>G
3g.81646416A>GCA353688043GBE1c.758T>C (p.Ile253Thr)
c.635T>C (p.Ile212Thr)
n.308T>C
3g.81646416A>TCA353688044GBE1c.758T>A (p.Ile253Asn)
c.635T>A (p.Ile212Asn)
n.308T>A
3g.81646417T>ACA353688045GBE1c.757A>T (p.Ile253Phe)
c.634A>T (p.Ile212Phe)
n.307A>T
3g.81646417T>CCA353688046GBE1c.757A>G (p.Ile253Val)
c.634A>G (p.Ile212Val)
n.307A>G
 ClinVar dbSNP
3g.81646417T>GCA353688047GBE1c.757A>C (p.Ile253Leu)
c.634A>C (p.Ile212Leu)
n.307A>C
3g.81646418T>ACA353688048GBE1c.756A>T (p.Gln252His)
c.633A>T (p.Gln211His)
n.306A>T
3g.81646418T>CCA434493955GBE1c.756A>G (p.Gln252=)
c.633A>G (p.Gln211=)
n.306A>G
3g.81646418T>GCA353688049GBE1c.756A>C (p.Gln252His)
c.633A>C (p.Gln211His)
n.306A>C
3g.81646418_81646419delinsGCA2695197944GBE1c.755_756delinsC (p.Gln252ProfsTer22)
c.632_633delinsC (p.Gln211ProfsTer22)
n.305_306delinsC
 ClinVar
3g.81646419T>ACA353688050GBE1c.755A>T (p.Gln252Leu)
c.632A>T (p.Gln211Leu)
n.305A>T
3g.81646419T>CCA353688052GBE1c.755A>G (p.Gln252Arg)
c.632A>G (p.Gln211Arg)
n.305A>G
 gnomAD v4
3g.81646419T>GCA353688051GBE1c.755A>C (p.Gln252Pro)
c.632A>C (p.Gln211Pro)
n.305A>C
3g.81646420G>ACA353688053GBE1c.754C>T (p.Gln252Ter)
c.631C>T (p.Gln211Ter)
n.304C>T
 ClinVar
3g.81646420G>CCA353688054GBE1c.754C>G (p.Gln252Glu)
c.631C>G (p.Gln211Glu)
n.304C>G
3g.81646420G>TCA353688055GBE1c.754C>A (p.Gln252Lys)
c.631C>A (p.Gln211Lys)
n.304C>A
 gnomAD v4
3g.81646421G>ACA434493956GBE1c.753C>T (p.Tyr251=)
c.630C>T (p.Tyr210=)
n.303C>T
3g.81646421G>CCA353688056GBE1c.753C>G (p.Tyr251Ter)
c.630C>G (p.Tyr210Ter)
n.303C>G
 ClinVar
3g.81646421G=CA1378729106GBE1c.753C= (p.Tyr251=)
c.630C= (p.Tyr210=)
n.303C=
3g.81646421G>TCA353688057GBE1c.753C>A (p.Tyr251Ter)
c.630C>A (p.Tyr210Ter)
n.303C>A
 dbSNP
3g.81646422T>ACA353688060GBE1c.752A>T (p.Tyr251Phe)
c.629A>T (p.Tyr210Phe)
n.302A>T
3g.81646422T>CCA353688059GBE1c.752A>G (p.Tyr251Cys)
c.629A>G (p.Tyr210Cys)
n.302A>G
3g.81646422T>GCA353688058GBE1c.752A>C (p.Tyr251Ser)
c.629A>C (p.Tyr210Ser)
n.302A>C
3g.81646423A>CCA353688061GBE1c.751T>G (p.Tyr251Asp)
c.628T>G (p.Tyr210Asp)
n.301T>G
3g.81646423A>GCA353688062GBE1c.751T>C (p.Tyr251His)
c.628T>C (p.Tyr210His)
n.301T>C
3g.81646423A>TCA353688063GBE1c.751T>A (p.Tyr251Asn)
c.628T>A (p.Tyr210Asn)
n.301T>A
3g.81646424A>CCA434493957GBE1c.750T>G (p.Gly250=)
c.627T>G (p.Gly209=)
n.300T>G
3g.81646424A>GCA434493959GBE1c.750T>C (p.Gly250=)
c.627T>C (p.Gly209=)
n.300T>C
3g.81646424A>TCA434493958GBE1c.750T>A (p.Gly250=)
c.627T>A (p.Gly209=)
n.300T>A
3g.81646425C>ACA353688064GBE1c.749G>T (p.Gly250Val)
c.626G>T (p.Gly209Val)
n.299G>T
3g.81646425C>GCA353688065GBE1c.749G>C (p.Gly250Ala)
c.626G>C (p.Gly209Ala)
n.299G>C
 COSMIC COSMIC
3g.81646425C>TCA353688066GBE1c.749G>A (p.Gly250Asp)
c.626G>A (p.Gly209Asp)
n.299G>A
3g.81646426C>ACA353688067GBE1c.748G>T (p.Gly250Cys)
c.625G>T (p.Gly209Cys)
n.298G>T
 ClinVar
3g.81646426C>GCA353688069GBE1c.748G>C (p.Gly250Arg)
c.625G>C (p.Gly209Arg)
n.298G>C
3g.81646426C>TCA353688068GBE1c.748G>A (p.Gly250Ser)
c.625G>A (p.Gly209Ser)
n.298G>A
3g.81646427A>CCA353688070GBE1c.747T>G (p.Phe249Leu)
c.624T>G (p.Phe208Leu)
n.297T>G
3g.81646427A>GCA434493960GBE1c.747T>C (p.Phe249=)
c.624T>C (p.Phe208=)
n.297T>C
3g.81646427A>TCA353688071GBE1c.747T>A (p.Phe249Leu)
c.624T>A (p.Phe208Leu)
n.297T>A
3g.81646428A=CA1378729107GBE1c.746T= (p.Phe249=)
c.623T= (p.Phe208=)
n.296T=
3g.81646428A>CCA353688072GBE1c.746T>G (p.Phe249Cys)
c.623T>G (p.Phe208Cys)
n.296T>G
 COSMIC COSMIC
3g.81646428A>GCA353688073GBE1c.746T>C (p.Phe249Ser)
c.623T>C (p.Phe208Ser)
n.296T>C
 dbSNP gnomAD v2 gnomAD v4
3g.81646428A>TCA353688074GBE1c.746T>A (p.Phe249Tyr)
c.623T>A (p.Phe208Tyr)
n.296T>A
3g.81646429A=CA1378729108GBE1c.745T= (p.Phe249=)
c.622T= (p.Phe208=)
n.295T=
3g.81646429A>CCA353688075GBE1c.745T>G (p.Phe249Val)
c.622T>G (p.Phe208Val)
n.295T>G
3g.81646429A>GCA353688076GBE1c.745T>C (p.Phe249Leu)
c.622T>C (p.Phe208Leu)
n.295T>C
 dbSNP gnomAD v3 gnomAD v4
3g.81646429A>TCA353688077GBE1c.745T>A (p.Phe249Ile)
c.622T>A (p.Phe208Ile)
n.295T>A
3g.81646430G>ACA434493961GBE1c.744C>T (p.Ser248=)
c.621C>T (p.Ser207=)
n.294C>T
3g.81646430G>CCA2499873GBE1c.744C>G (p.Ser248Arg)
c.621C>G (p.Ser207Arg)
n.294C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.81646430G=CA1378729109GBE1c.744C= (p.Ser248=)
c.621C= (p.Ser207=)
n.294C=
3g.81646430G>TCA353688078GBE1c.744C>A (p.Ser248Arg)
c.621C>A (p.Ser207Arg)
n.294C>A
3g.81646431C>ACA353688079GBE1c.743G>T (p.Ser248Ile)
c.620G>T (p.Ser207Ile)
n.293G>T
3g.81646431C>GCA353688081GBE1c.743G>C (p.Ser248Thr)
c.620G>C (p.Ser207Thr)
n.293G>C
3g.81646431C>TCA353688080GBE1c.743G>A (p.Ser248Asn)
c.620G>A (p.Ser207Asn)
n.293G>A
3g.81646432T>ACA353688082GBE1c.742A>T (p.Ser248Cys)
c.619A>T (p.Ser207Cys)
n.292A>T
3g.81646432T>CCA353688084GBE1c.742A>G (p.Ser248Gly)
c.619A>G (p.Ser207Gly)
n.292A>G
3g.81646432T>GCA353688083GBE1c.742A>C (p.Ser248Arg)
c.619A>C (p.Ser207Arg)
n.292A>C
3g.81646433G>ACA434493962GBE1c.741C>T (p.Ala247=)
c.618C>T (p.Ala206=)
n.291C>T
 gnomAD v4
3g.81646433G>CCA434493963GBE1c.741C>G (p.Ala247=)
c.618C>G (p.Ala206=)
n.291C>G
3g.81646433G>TCA434493964GBE1c.741C>A (p.Ala247=)
c.618C>A (p.Ala206=)
n.291C>A
3g.81646434delCA2666623889GBE1c.741del (p.Ser248AlafsTer26)
c.618del (p.Ser207AlafsTer26)
n.291del
 gnomAD v4
3g.81646434G>ACA353688085GBE1c.740C>T (p.Ala247Val)
c.617C>T (p.Ala206Val)
n.290C>T
 COSMIC COSMIC
3g.81646434G>CCA353688086GBE1c.740C>G (p.Ala247Gly)
c.617C>G (p.Ala206Gly)
n.290C>G
 gnomAD v4
3g.81646434G>TCA353688087GBE1c.740C>A (p.Ala247Asp)
c.617C>A (p.Ala206Asp)
n.290C>A
3g.81646435C>ACA353688088GBE1c.739G>T (p.Ala247Ser)
c.616G>T (p.Ala206Ser)
n.289G>T
3g.81646435C>GCA353688089GBE1c.739G>C (p.Ala247Pro)
c.616G>C (p.Ala206Pro)
n.289G>C
3g.81646435C>TCA353688090GBE1c.739G>A (p.Ala247Thr)
c.616G>A (p.Ala206Thr)
n.289G>A
 dbSNP gnomAD v3 gnomAD v4
3g.81646436A=CA1378729110GBE1c.738T= (p.Tyr246=)
c.615T= (p.Tyr205=)
n.288T=
3g.81646436A>CCA353688091GBE1c.738T>G (p.Tyr246Ter)
c.615T>G (p.Tyr205Ter)
n.288T>G
3g.81646436A>GCA434493965GBE1c.738T>C (p.Tyr246=)
c.615T>C (p.Tyr205=)
n.288T>C
 dbSNP
3g.81646436A>TCA353688092GBE1c.738T>A (p.Tyr246Ter)
c.615T>A (p.Tyr205Ter)
n.288T>A
3g.81646437T>ACA353688093GBE1c.737A>T (p.Tyr246Phe)
c.614A>T (p.Tyr205Phe)
n.287A>T
3g.81646437T>CCA353688094GBE1c.737A>G (p.Tyr246Cys)
c.614A>G (p.Tyr205Cys)
n.287A>G
3g.81646437T>GCA353688095GBE1c.737A>C (p.Tyr246Ser)
c.614A>C (p.Tyr205Ser)
n.287A>C
 dbSNP
3g.81646437T=CA1378729111GBE1c.737A= (p.Tyr246=)
c.614A= (p.Tyr205=)
n.287A=
3g.81646438A>CCA353688096GBE1c.736T>G (p.Tyr246Asp)
c.613T>G (p.Tyr205Asp)
n.286T>G
3g.81646438A>GCA353688097GBE1c.736T>C (p.Tyr246His)
c.613T>C (p.Tyr205His)
n.286T>C
3g.81646438A>TCA353688098GBE1c.736T>A (p.Tyr246Asn)
c.613T>A (p.Tyr205Asn)
n.286T>A
3g.81646439G>ACA434493966GBE1c.735C>T (p.Tyr245=)
c.612C>T (p.Tyr204=)
n.285C>T
 dbSNP gnomAD v4
3g.81646439G>CCA353688099GBE1c.735C>G (p.Tyr245Ter)
c.612C>G (p.Tyr204Ter)
n.285C>G
3g.81646439G=CA1378729112GBE1c.735C= (p.Tyr245=)
c.612C= (p.Tyr204=)
n.285C=
3g.81646439G>TCA353688100GBE1c.735C>A (p.Tyr245Ter)
c.612C>A (p.Tyr204Ter)
n.285C>A
3g.81646440T>ACA353688101GBE1c.734A>T (p.Tyr245Phe)
c.611A>T (p.Tyr204Phe)
n.284A>T
3g.81646440T>CCA353688102GBE1c.734A>G (p.Tyr245Cys)
c.611A>G (p.Tyr204Cys)
n.284A>G
3g.81646440T>GCA353688103GBE1c.734A>C (p.Tyr245Ser)
c.611A>C (p.Tyr204Ser)
n.284A>C
3g.81646441A>CCA353688104GBE1c.733T>G (p.Tyr245Asp)
c.610T>G (p.Tyr204Asp)
n.283T>G
 gnomAD v4
3g.81646441A>GCA353688105GBE1c.733T>C (p.Tyr245His)
c.610T>C (p.Tyr204His)
n.283T>C
 ClinVar dbSNP gnomAD v4
3g.81646441A>TCA353688106GBE1c.733T>A (p.Tyr245Asn)
c.610T>A (p.Tyr204Asn)
n.283T>A
3g.81646442A>CCA434493967GBE1c.732T>G (p.Ala244=)
c.609T>G (p.Ala203=)
n.282T>G
3g.81646442A>GCA434493968GBE1c.732T>C (p.Ala244=)
c.609T>C (p.Ala203=)
n.282T>C
3g.81646442A>TCA434493969GBE1c.732T>A (p.Ala244=)
c.609T>A (p.Ala203=)
n.282T>A
3g.81646443G>ACA353688107GBE1c.731C>T (p.Ala244Val)
c.608C>T (p.Ala203Val)
n.281C>T
 dbSNP
3g.81646443G>CCA353688108GBE1c.731C>G (p.Ala244Gly)
c.608C>G (p.Ala203Gly)
n.281C>G
 gnomAD v4
3g.81646443G=CA1378729113GBE1c.731C= (p.Ala244=)
c.608C= (p.Ala203=)
n.281C=
3g.81646443G>TCA353688109GBE1c.731C>A (p.Ala244Asp)
c.608C>A (p.Ala203Asp)
n.281C>A
3g.81646444C>ACA353688110GBE1c.730G>T (p.Ala244Ser)
c.607G>T (p.Ala203Ser)
n.280G>T
3g.81646444C>GCA353688111GBE1c.730G>C (p.Ala244Pro)
c.607G>C (p.Ala203Pro)
n.280G>C
3g.81646444C>TCA353688112GBE1c.730G>A (p.Ala244Thr)
c.607G>A (p.Ala203Thr)
n.280G>A
 gnomAD v4
3g.81646445A>CCA353688114GBE1c.729T>G (p.His243Gln)
c.606T>G (p.His202Gln)
n.279T>G
3g.81646445A>GCA434493970GBE1c.729T>C (p.His243=)
c.606T>C (p.His202=)
n.279T>C
3g.81646445A>TCA353688113GBE1c.729T>A (p.His243Gln)
c.606T>A (p.His202Gln)
n.279T>A
3g.81646446T>ACA353688115GBE1c.728A>T (p.His243Leu)
c.605A>T (p.His202Leu)
n.278A>T
 gnomAD v4
3g.81646446T>CCA353688116GBE1c.728A>G (p.His243Arg)
c.605A>G (p.His202Arg)
n.278A>G
3g.81646446T>GCA353688117GBE1c.728A>C (p.His243Pro)
c.605A>C (p.His202Pro)
n.278A>C
3g.81646447G>ACA353688118GBE1c.727C>T (p.His243Tyr)
c.604C>T (p.His202Tyr)
n.277C>T
3g.81646447G>CCA353688119GBE1c.727C>G (p.His243Asp)
c.604C>G (p.His202Asp)
n.277C>G
3g.81646447G>TCA353688120GBE1c.727C>A (p.His243Asn)
c.604C>A (p.His202Asn)
n.277C>A
 gnomAD v4
3g.81646448C>ACA353688122GBE1c.726G>T (p.Glu242Asp)
c.603G>T (p.Glu201Asp)
n.276G>T
 gnomAD v4
3g.81646448C>GCA353688121GBE1c.726G>C (p.Glu242Asp)
c.603G>C (p.Glu201Asp)
n.276G>C
3g.81646448C>TCA434493971GBE1c.726G>A (p.Glu242=)
c.603G>A (p.Glu201=)
n.276G>A
3g.81646449T>ACA353688123GBE1c.725A>T (p.Glu242Val)
c.602A>T (p.Glu201Val)
n.275A>T
3g.81646449T>CCA353688124GBE1c.725A>G (p.Glu242Gly)
c.602A>G (p.Glu201Gly)
n.275A>G
 gnomAD v4
3g.81646449T>GCA353688125GBE1c.725A>C (p.Glu242Ala)
c.602A>C (p.Glu201Ala)
n.275A>C
3g.81646450C>ACA353688126GBE1c.724G>T (p.Glu242Ter)
c.601G>T (p.Glu201Ter)
n.274G>T
3g.81646450C=CA1378729114GBE1c.724G= (p.Glu242=)
c.601G= (p.Glu201=)
n.274G=
3g.81646450C>GCA353688127GBE1c.724G>C (p.Glu242Gln)
c.601G>C (p.Glu201Gln)
n.274G>C
 gnomAD v4
3g.81646450C>TCA353688128GBE1c.724G>A (p.Glu242Lys)
c.601G>A (p.Glu201Lys)
n.274G>A
 dbSNP gnomAD v4
3g.81646451C>ACA353688131GBE1c.723G>T (p.Met241Ile)
c.600G>T (p.Met200Ile)
n.273G>T
 dbSNP
3g.81646451C=CA1378729115GBE1c.723G= (p.Met241=)
c.600G= (p.Met200=)
n.273G=
3g.81646451C>GCA353688129GBE1c.723G>C (p.Met241Ile)
c.600G>C (p.Met200Ile)
n.273G>C
3g.81646451C>TCA353688130GBE1c.723G>A (p.Met241Ile)
c.600G>A (p.Met200Ile)
n.273G>A
 gnomAD v4
3g.81646452A=CA1378729116GBE1c.722T= (p.Met241=)
c.599T= (p.Met200=)
n.272T=
3g.81646452A>CCA353688132GBE1c.722T>G (p.Met241Arg)
c.599T>G (p.Met200Arg)
n.272T>G
3g.81646452A>GCA353688133GBE1c.722T>C (p.Met241Thr)
c.599T>C (p.Met200Thr)
n.272T>C
 dbSNP gnomAD v2 gnomAD v4
3g.81646452A>TCA353688134GBE1c.722T>A (p.Met241Lys)
c.599T>A (p.Met200Lys)
n.272T>A
3g.81646453T>ACA353688135GBE1c.721A>T (p.Met241Leu)
c.598A>T (p.Met200Leu)
n.271A>T
 dbSNP gnomAD v3 gnomAD v4
3g.81646453T>CCA2499874GBE1c.721A>G (p.Met241Val)
c.598A>G (p.Met200Val)
n.271A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.81646453T>GCA353688136GBE1c.721A>C (p.Met241Leu)
c.598A>C (p.Met200Leu)
n.271A>C
3g.81646453T=CA1378729117GBE1c.721A= (p.Met241=)
c.598A= (p.Met200=)
n.271A=
3g.81646454G>ACA434493972GBE1c.720C>T (p.Ile240=)
c.597C>T (p.Ile199=)
n.270C>T
 ClinVar
3g.81646454G>CCA353688137GBE1c.720C>G (p.Ile240Met)
c.597C>G (p.Ile199Met)
n.270C>G
3g.81646454G>TCA434493973GBE1c.720C>A (p.Ile240=)
c.597C>A (p.Ile199=)
n.270C>A
3g.81646454_81646455delinsGACA1378729118GBE1c.719_720delinsTC (p.Ile240=)
c.596_597delinsTC (p.Ile199=)
n.269_270delinsTC
3g.81646455delCA911022032GBE1c.719del (p.Ile240ThrfsTer?)
c.596del (p.Ile199ThrfsTer?)
n.269del
 dbSNP
3g.81646455A>CCA353688138GBE1c.719T>G (p.Ile240Ser)
c.596T>G (p.Ile199Ser)
n.269T>G
3g.81646455A>GCA353688139GBE1c.719T>C (p.Ile240Thr)
c.596T>C (p.Ile199Thr)
n.269T>C
3g.81646455A>TCA353688140GBE1c.719T>A (p.Ile240Asn)
c.596T>A (p.Ile199Asn)
n.269T>A
3g.81646456T>ACA353688141GBE1c.718A>T (p.Ile240Phe)
c.595A>T (p.Ile199Phe)
n.268A>T
3g.81646456T>CCA78292184GBE1c.718A>G (p.Ile240Val)
c.595A>G (p.Ile199Val)
n.268A>G
 ClinVar dbSNP gnomAD v4
3g.81646456T>GCA353688142GBE1c.718A>C (p.Ile240Leu)
c.595A>C (p.Ile199Leu)
n.268A>C
 dbSNP gnomAD v2 gnomAD v4
3g.81646456T=CA1378729119GBE1c.718A= (p.Ile240=)
c.595A= (p.Ile199=)
n.268A=
3g.81646457T>ACA434493975GBE1c.717A>T (p.Ala239=)
c.594A>T (p.Ala198=)
n.267A>T
 gnomAD v4
3g.81646457T>CCA434493976GBE1c.717A>G (p.Ala239=)
c.594A>G (p.Ala198=)
n.267A>G
3g.81646457T>GCA434493977GBE1c.717A>C (p.Ala239=)
c.594A>C (p.Ala198=)
n.267A>C
3g.81646458G>ACA353688143GBE1c.716C>T (p.Ala239Val)
c.593C>T (p.Ala198Val)
n.266C>T
 gnomAD v4
3g.81646458G>CCA353688145GBE1c.716C>G (p.Ala239Gly)
c.593C>G (p.Ala198Gly)
n.266C>G
3g.81646458G>TCA353688144GBE1c.716C>A (p.Ala239Glu)
c.593C>A (p.Ala198Glu)
n.266C>A
3g.81646459C>ACA353688146GBE1c.715G>T (p.Ala239Ser)
c.592G>T (p.Ala198Ser)
n.265G>T
3g.81646459C>GCA353688148GBE1c.715G>C (p.Ala239Pro)
c.592G>C (p.Ala198Pro)
n.265G>C
3g.81646459C>TCA353688147GBE1c.715G>A (p.Ala239Thr)
c.592G>A (p.Ala198Thr)
n.265G>A
 gnomAD v4
3g.81646460C>ACA353688149GBE1c.714G>T (p.Met238Ile)
c.591G>T (p.Met197Ile)
n.264G>T
3g.81646460C=CA1378729120GBE1c.714G= (p.Met238=)
c.591G= (p.Met197=)
n.264G=
3g.81646460C>GCA353688150GBE1c.714G>C (p.Met238Ile)
c.591G>C (p.Met197Ile)
n.264G>C
3g.81646460C>TCA2499875GBE1c.714G>A (p.Met238Ile)
c.591G>A (p.Met197Ile)
n.264G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.81646461A=CA1378729121GBE1c.713T= (p.Met238=)
c.590T= (p.Met197=)
n.263T=
3g.81646461A>CCA353688151GBE1c.713T>G (p.Met238Arg)
c.590T>G (p.Met197Arg)
n.263T>G
 dbSNP
3g.81646461A>GCA353688152GBE1c.713T>C (p.Met238Thr)
c.590T>C (p.Met197Thr)
n.263T>C
 ClinVar
3g.81646461A>TCA353688153GBE1c.713T>A (p.Met238Lys)
c.590T>A (p.Met197Lys)
n.263T>A
3g.81646462T>ACA353688154GBE1c.712A>T (p.Met238Leu)
c.589A>T (p.Met197Leu)
n.262A>T
 COSMIC COSMIC
3g.81646462T>CCA353688155GBE1c.712A>G (p.Met238Val)
c.589A>G (p.Met197Val)
n.262A>G
 gnomAD v4
3g.81646462T>GCA353688156GBE1c.712A>C (p.Met238Leu)
c.589A>C (p.Met197Leu)
n.262A>C

Number of alleles fetched