Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.113148998G>ACA388792150F10c.948G>A (p.Lys316=)
c.938G>A (p.Arg313Lys)
c.944G>A (p.Arg315Lys)
c.816G>A (p.Lys272=)
13g.113148998G>CCA388792148F10c.948G>C (p.Lys316Asn)
c.938G>C (p.Arg313Thr)
c.944G>C (p.Arg315Thr)
c.816G>C (p.Lys272Asn)
 gnomAD v4
13g.113148998G>TCA388792152F10c.948G>T (p.Lys316Asn)
c.938G>T (p.Arg313Met)
c.944G>T (p.Arg315Met)
c.816G>T (p.Lys272Asn)
13g.113148999G>ACA388792154F10c.949G>A (p.Glu317Lys)
c.939G>A (p.Arg313=)
c.945G>A (p.Arg315=)
c.817G>A (p.Glu273Lys)
 COSMIC
13g.113148999G>CCA388792157F10c.949G>C (p.Glu317Gln)
c.939G>C (p.Arg313Ser)
c.945G>C (p.Arg315Ser)
c.817G>C (p.Glu273Gln)
13g.113148999G>TCA388792156F10c.949G>T (p.Glu317Ter)
c.939G>T (p.Arg313Ser)
c.945G>T (p.Arg315Ser)
c.817G>T (p.Glu273Ter)
13g.113149000A>CCA388792158F10c.950A>C (p.Glu317Ala)
c.940A>C (p.Arg314=)
c.946A>C (p.Arg316=)
c.818A>C (p.Glu273Ala)
13g.113149000A>GCA388792160F10c.950A>G (p.Glu317Gly)
c.940A>G (p.Arg314Gly)
c.946A>G (p.Arg316Gly)
c.818A>G (p.Glu273Gly)
13g.113149000A>TCA388792159F10c.950A>T (p.Glu317Val)
c.940A>T (p.Arg314Ter)
c.946A>T (p.Arg316Ter)
c.818A>T (p.Glu273Val)
13g.113149001G>ACA388792161F10c.951G>A (p.Glu317=)
c.941G>A (p.Arg314Lys)
c.947G>A (p.Arg316Lys)
c.819G>A (p.Glu273=)
13g.113149001G>CCA388792164F10c.951G>C (p.Glu317Asp)
c.941G>C (p.Arg314Thr)
c.947G>C (p.Arg316Thr)
c.819G>C (p.Glu273Asp)
13g.113149001G>TCA388792163F10c.951G>T (p.Glu317Asp)
c.941G>T (p.Arg314Ile)
c.947G>T (p.Arg316Ile)
c.819G>T (p.Glu273Asp)
 gnomAD v4
13g.113149002A>CCA388792166F10c.952A>C (p.Thr318Pro)
c.942A>C (p.Arg314Ser)
c.948A>C (p.Arg316Ser)
c.820A>C (p.Thr274Pro)
13g.113149002A>GCA388792171F10c.952A>G (p.Thr318Ala)
c.942A>G (p.Arg314=)
c.948A>G (p.Arg316=)
c.820A>G (p.Thr274Ala)
13g.113149002A>TCA388792168F10c.952A>T (p.Thr318Ser)
c.942A>T (p.Arg314Ser)
c.948A>T (p.Arg316Ser)
c.820A>T (p.Thr274Ser)
13g.113149003C>ACA388792173F10c.953C>A (p.Thr318Asn)
c.943C>A (p.Pro315Thr)
c.949C>A (p.Pro317Thr)
c.821C>A (p.Thr274Asn)
13g.113149003C>GCA388792175F10c.953C>G (p.Thr318Ser)
c.943C>G (p.Pro315Ala)
c.949C>G (p.Pro317Ala)
c.821C>G (p.Thr274Ser)
 gnomAD v4
13g.113149003C>TCA388792178F10c.953C>T (p.Thr318Ile)
c.943C>T (p.Pro315Ser)
c.949C>T (p.Pro317Ser)
c.821C>T (p.Thr274Ile)
13g.113149004C>ACA388792180F10c.954C>A (p.Thr318=)
c.944C>A (p.Pro315His)
c.950C>A (p.Pro317His)
c.822C>A (p.Thr274=)
13g.113149004C>GCA388792184F10c.954C>G (p.Thr318=)
c.944C>G (p.Pro315Arg)
c.950C>G (p.Pro317Arg)
c.822C>G (p.Thr274=)
13g.113149004C>TCA388792187F10c.954C>T (p.Thr318=)
c.944C>T (p.Pro315Leu)
c.950C>T (p.Pro317Leu)
c.822C>T (p.Thr274=)
13g.113149005T>ACA388792190F10c.955T>A (p.Tyr319Asn)
c.945T>A (p.Pro315=)
c.951T>A (p.Pro317=)
c.823T>A (p.Tyr275Asn)
13g.113149005T>CCA256478651F10c.955T>C (p.Tyr319His)
c.945T>C (p.Pro315=)
c.951T>C (p.Pro317=)
c.823T>C (p.Tyr275His)
 dbSNP gnomAD v3 gnomAD v4
13g.113149005T>GCA388792193F10c.955T>G (p.Tyr319Asp)
c.945T>G (p.Pro315=)
c.951T>G (p.Pro317=)
c.823T>G (p.Tyr275Asp)
 gnomAD v4
13g.113149005T=CA2120139958F10c.955T= (p.Tyr319=)
c.945T= (p.Pro315=)
c.951T= (p.Pro317=)
c.823T= (p.Tyr275=)
13g.113149006A>CCA388792194F10c.956A>C (p.Tyr319Ser)
c.946A>C (p.Met316Leu)
c.952A>C (p.Met318Leu)
c.824A>C (p.Tyr275Ser)
13g.113149006A>GCA388792195F10c.956A>G (p.Tyr319Cys)
c.946A>G (p.Met316Val)
c.952A>G (p.Met318Val)
c.824A>G (p.Tyr275Cys)
13g.113149006A>TCA388792196F10c.956A>T (p.Tyr319Phe)
c.946A>T (p.Met316Leu)
c.952A>T (p.Met318Leu)
c.824A>T (p.Tyr275Phe)
13g.113149007T>ACA388792202F10c.957T>A (p.Tyr319Ter)
c.947T>A (p.Met316Lys)
c.953T>A (p.Met318Lys)
c.825T>A (p.Tyr275Ter)
13g.113149007T>CCA7060646F10c.957T>C (p.Tyr319=)
c.947T>C (p.Met316Thr)
c.953T>C (p.Met318Thr)
c.825T>C (p.Tyr275=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149007T>GCA388792197F10c.957T>G (p.Tyr319Ter)
c.947T>G (p.Met316Arg)
c.953T>G (p.Met318Arg)
c.825T>G (p.Tyr275Ter)
13g.113149007T=CA2120139963F10c.957T= (p.Tyr319=)
c.947T= (p.Met316=)
c.953T= (p.Met318=)
c.825T= (p.Tyr275=)
13g.113149008G>ACA388792205F10c.958G>A (p.Asp320Asn)
c.948G>A (p.Met316Ile)
c.954G>A (p.Met318Ile)
c.826G>A (p.Asp276Asn)
 dbSNP
13g.113149008G>CCA7060647F10c.958G>C (p.Asp320His)
c.948G>C (p.Met316Ile)
c.954G>C (p.Met318Ile)
c.826G>C (p.Asp276His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149008G=CA2120139967F10c.958G= (p.Asp320=)
c.948G= (p.Met316=)
c.954G= (p.Met318=)
c.826G= (p.Asp276=)
13g.113149008G>TCA388792208F10c.958G>T (p.Asp320Tyr)
c.948G>T (p.Met316Ile)
c.954G>T (p.Met318Ile)
c.826G>T (p.Asp276Tyr)
13g.113149009A>CCA388792211F10c.959A>C (p.Asp320Ala)
c.949A>C (p.Thr317Pro)
c.955A>C (p.Thr319Pro)
c.827A>C (p.Asp276Ala)
13g.113149009A>GCA388792214F10c.959A>G (p.Asp320Gly)
c.949A>G (p.Thr317Ala)
c.955A>G (p.Thr319Ala)
c.827A>G (p.Asp276Gly)
13g.113149009A>TCA388792217F10c.959A>T (p.Asp320Val)
c.949A>T (p.Thr317Ser)
c.955A>T (p.Thr319Ser)
c.827A>T (p.Asp276Val)
13g.113149010C>ACA388792224F10c.960C>A (p.Asp320Glu)
c.950C>A (p.Thr317Asn)
c.956C>A (p.Thr319Asn)
c.828C>A (p.Asp276Glu)
13g.113149010C=CA2120139975F10c.960C= (p.Asp320=)
c.950C= (p.Thr317=)
c.956C= (p.Thr319=)
c.828C= (p.Asp276=)
13g.113149010C>GCA388792226F10c.960C>G (p.Asp320Glu)
c.950C>G (p.Thr317Ser)
c.956C>G (p.Thr319Ser)
c.828C>G (p.Asp276Glu)
13g.113149010C>TCA7060648F10c.960C>T (p.Asp320=)
c.950C>T (p.Thr317Ile)
c.956C>T (p.Thr319Ile)
c.828C>T (p.Asp276=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149011_113149021delCA2575514503F10c.961_971del (p.Phe321ArgfsTer23)
c.951_961del (p.Ser318ValfsTer?)
c.957_967del (p.Ser320ValfsTer?)
c.829_839del (p.Phe277ArgfsTer23)
 gnomAD v4
13g.113149011T>ACA7060649F10c.961T>A (p.Phe321Ile)
c.951T>A (p.Thr317=)
c.957T>A (p.Thr319=)
c.829T>A (p.Phe277Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149011T>CCA388792237F10c.961T>C (p.Phe321Leu)
c.951T>C (p.Thr317=)
c.957T>C (p.Thr319=)
c.829T>C (p.Phe277Leu)
 dbSNP
13g.113149011T>GCA388792238F10c.961T>G (p.Phe321Val)
c.951T>G (p.Thr317=)
c.957T>G (p.Thr319=)
c.829T>G (p.Phe277Val)
13g.113149011T=CA2120139981F10c.961T= (p.Phe321=)
c.951T= (p.Thr317=)
c.957T= (p.Thr319=)
c.829T= (p.Phe277=)
13g.113149012T>ACA388792240F10c.962T>A (p.Phe321Tyr)
c.952T>A (p.Ser318Thr)
c.958T>A (p.Ser320Thr)
c.830T>A (p.Phe277Tyr)
13g.113149012T>CCA388792245F10c.962T>C (p.Phe321Ser)
c.952T>C (p.Ser318Pro)
c.958T>C (p.Ser320Pro)
c.830T>C (p.Phe277Ser)
13g.113149012T>GCA388792243F10c.962T>G (p.Phe321Cys)
c.952T>G (p.Ser318Ala)
c.958T>G (p.Ser320Ala)
c.830T>G (p.Phe277Cys)
13g.113149013C>ACA388792248F10c.963C>A (p.Phe321Leu)
c.953C>A (p.Ser318Ter)
c.959C>A (p.Ser320Ter)
c.831C>A (p.Phe277Leu)
 gnomAD v4
13g.113149013C=CA2120139987F10c.963C= (p.Phe321=)
c.953C= (p.Ser318=)
c.959C= (p.Ser320=)
c.831C= (p.Phe277=)
13g.113149013C>GCA388792251F10c.963C>G (p.Phe321Leu)
c.953C>G (p.Ser318Trp)
c.959C>G (p.Ser320Trp)
c.831C>G (p.Phe277Leu)
13g.113149013C>TCA7060650F10c.963C>T (p.Phe321=)
c.953C>T (p.Ser318Leu)
c.959C>T (p.Ser320Leu)
c.831C>T (p.Phe277=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149014G>ACA256478655F10c.964G>A (p.Asp322Asn)
c.954G>A (p.Ser318=)
c.960G>A (p.Ser320=)
c.832G>A (p.Asp278Asn)
 ClinVar dbSNP gnomAD v4
13g.113149014G>CCA388792256F10c.964G>C (p.Asp322His)
c.954G>C (p.Ser318=)
c.960G>C (p.Ser320=)
c.832G>C (p.Asp278His)
 gnomAD v4
13g.113149014G=CA2120139988F10c.964G= (p.Asp322=)
c.954G= (p.Ser318=)
c.960G= (p.Ser320=)
c.832G= (p.Asp278=)
13g.113149014G>TCA388792258F10c.964G>T (p.Asp322Tyr)
c.954G>T (p.Ser318=)
c.960G>T (p.Ser320=)
c.832G>T (p.Asp278Tyr)
13g.113149015A>CCA388792260F10c.965A>C (p.Asp322Ala)
c.955A>C (p.Thr319Pro)
c.961A>C (p.Thr321Pro)
c.833A>C (p.Asp278Ala)
13g.113149015A>GCA388792263F10c.965A>G (p.Asp322Gly)
c.955A>G (p.Thr319Ala)
c.961A>G (p.Thr321Ala)
c.833A>G (p.Asp278Gly)
13g.113149015A>TCA388792265F10c.965A>T (p.Asp322Val)
c.955A>T (p.Thr319Ser)
c.961A>T (p.Thr321Ser)
c.833A>T (p.Asp278Val)
13g.113149016C>ACA7060651F10c.966C>A (p.Asp322Glu)
c.956C>A (p.Thr319Lys)
c.962C>A (p.Thr321Lys)
c.834C>A (p.Asp278Glu)
 dbSNP ExAC gnomAD v2
13g.113149016C=CA2120139990F10c.966C= (p.Asp322=)
c.956C= (p.Thr319=)
c.962C= (p.Thr321=)
c.834C= (p.Asp278=)
13g.113149016C>GCA388792270F10c.966C>G (p.Asp322Glu)
c.956C>G (p.Thr319Arg)
c.962C>G (p.Thr321Arg)
c.834C>G (p.Asp278Glu)
 gnomAD v4
13g.113149016C>TCA388792271F10c.966C>T (p.Asp322=)
c.956C>T (p.Thr319Ile)
c.962C>T (p.Thr321Ile)
c.834C>T (p.Asp278=)
13g.113149017A>CCA388792273F10c.967A>C (p.Ile323Leu)
c.957A>C (p.Thr319=)
c.963A>C (p.Thr321=)
c.835A>C (p.Ile279Leu)
13g.113149017A>GCA388792277F10c.967A>G (p.Ile323Val)
c.957A>G (p.Thr319=)
c.963A>G (p.Thr321=)
c.835A>G (p.Ile279Val)
13g.113149017A>TCA388792275F10c.967A>T (p.Ile323Phe)
c.957A>T (p.Thr319=)
c.963A>T (p.Thr321=)
c.835A>T (p.Ile279Phe)
13g.113149018T>ACA388792279F10c.968T>A (p.Ile323Asn)
c.958T>A (p.Ser320Thr)
c.964T>A (p.Ser322Thr)
c.836T>A (p.Ile279Asn)
13g.113149018T>CCA388792282F10c.968T>C (p.Ile323Thr)
c.958T>C (p.Ser320Pro)
c.964T>C (p.Ser322Pro)
c.836T>C (p.Ile279Thr)
13g.113149018T>GCA388792285F10c.968T>G (p.Ile323Ser)
c.958T>G (p.Ser320Ala)
c.964T>G (p.Ser322Ala)
c.836T>G (p.Ile279Ser)
13g.113149019C>ACA388792288F10c.969C>A (p.Ile323=)
c.959C>A (p.Ser320Ter)
c.965C>A (p.Ser322Ter)
c.837C>A (p.Ile279=)
13g.113149019C=CA2120139995F10c.969C= (p.Ile323=)
c.959C= (p.Ser320=)
c.965C= (p.Ser322=)
c.837C= (p.Ile279=)
13g.113149019C>GCA388792290F10c.969C>G (p.Ile323Met)
c.959C>G (p.Ser320Trp)
c.965C>G (p.Ser322Trp)
c.837C>G (p.Ile279Met)
 COSMIC
13g.113149019C>TCA388792292F10c.969C>T (p.Ile323=)
c.959C>T (p.Ser320Leu)
c.965C>T (p.Ser322Leu)
c.837C>T (p.Ile279=)
 dbSNP gnomAD v2 gnomAD v4
13g.113149020G>ACA388792299F10c.970G>A (p.Ala324Thr)
c.960G>A (p.Ser320=)
c.966G>A (p.Ser322=)
c.838G>A (p.Ala280Thr)
 dbSNP gnomAD v2 gnomAD v4
13g.113149020G>CCA388792302F10c.970G>C (p.Ala324Pro)
c.960G>C (p.Ser320=)
c.966G>C (p.Ser322=)
c.838G>C (p.Ala280Pro)
 dbSNP gnomAD v4
13g.113149020G=CA2120139997F10c.970G= (p.Ala324=)
c.960G= (p.Ser320=)
c.966G= (p.Ser322=)
c.838G= (p.Ala280=)
13g.113149020G>TCA388792305F10c.970G>T (p.Ala324Ser)
c.960G>T (p.Ser320=)
c.966G>T (p.Ser322=)
c.838G>T (p.Ala280Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149021C>ACA388792311F10c.971C>A (p.Ala324Asp)
c.961C>A (p.Pro321Thr)
c.967C>A (p.Pro323Thr)
c.839C>A (p.Ala280Asp)
13g.113149021C>GCA388792313F10c.971C>G (p.Ala324Gly)
c.961C>G (p.Pro321Ala)
c.967C>G (p.Pro323Ala)
c.839C>G (p.Ala280Gly)
13g.113149021C>TCA388792309F10c.971C>T (p.Ala324Val)
c.961C>T (p.Pro321Ser)
c.967C>T (p.Pro323Ser)
c.839C>T (p.Ala280Val)
13g.113149022C>ACA388792315F10c.972C>A (p.Ala324=)
c.962C>A (p.Pro321Gln)
c.968C>A (p.Pro323Gln)
c.840C>A (p.Ala280=)
13g.113149022C=CA2120140001F10c.972C= (p.Ala324=)
c.962C= (p.Pro321=)
c.968C= (p.Pro323=)
c.840C= (p.Ala280=)
13g.113149022C>GCA7060652F10c.972C>G (p.Ala324=)
c.962C>G (p.Pro321Arg)
c.968C>G (p.Pro323Arg)
c.840C>G (p.Ala280=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149022C>TCA7060653F10c.972C>T (p.Ala324=)
c.962C>T (p.Pro321Leu)
c.968C>T (p.Pro323Leu)
c.840C>T (p.Ala280=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149023G>ACA7060654F10c.973G>A (p.Val325Met)
c.963G>A (p.Pro321=)
c.969G>A (p.Pro323=)
c.841G>A (p.Val281Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149023G>CCA388792319F10c.973G>C (p.Val325Leu)
c.963G>C (p.Pro321=)
c.969G>C (p.Pro323=)
c.841G>C (p.Val281Leu)
 gnomAD v4
13g.113149023G=CA2120140006F10c.973G= (p.Val325=)
c.963G= (p.Pro321=)
c.969G= (p.Pro323=)
c.841G= (p.Val281=)
13g.113149023G>TCA388792320F10c.973G>T (p.Val325Leu)
c.963G>T (p.Pro321=)
c.969G>T (p.Pro323=)
c.841G>T (p.Val281Leu)
13g.113149024T>ACA388792321F10c.974T>A (p.Val325Glu)
c.964T>A (p.Cys322Ser)
c.970T>A (p.Cys324Ser)
c.842T>A (p.Val281Glu)
 gnomAD v4
13g.113149024T>CCA388792322F10c.974T>C (p.Val325Ala)
c.964T>C (p.Cys322Arg)
c.970T>C (p.Cys324Arg)
c.842T>C (p.Val281Ala)
13g.113149024T>GCA388792323F10c.974T>G (p.Val325Gly)
c.964T>G (p.Cys322Gly)
c.970T>G (p.Cys324Gly)
c.842T>G (p.Val281Gly)
13g.113149025G>ACA388792326F10c.975G>A (p.Val325=)
c.965G>A (p.Cys322Tyr)
c.971G>A (p.Cys324Tyr)
c.843G>A (p.Val281=)
13g.113149025G>CCA388792328F10c.975G>C (p.Val325=)
c.965G>C (p.Cys322Ser)
c.971G>C (p.Cys324Ser)
c.843G>C (p.Val281=)
13g.113149025G>TCA388792329F10c.975G>T (p.Val325=)
c.965G>T (p.Cys322Phe)
c.971G>T (p.Cys324Phe)
c.843G>T (p.Val281=)
 gnomAD v4
13g.113149026C>ACA388792334F10c.976C>A (p.Leu326Ile)
c.966C>A (p.Cys322Ter)
c.972C>A (p.Cys324Ter)
c.844C>A (p.Leu282Ile)
13g.113149026C=CA2120140010F10c.976C= (p.Leu326=)
c.966C= (p.Cys322=)
c.972C= (p.Cys324=)
c.844C= (p.Leu282=)
13g.113149026C>GCA7060655F10c.976C>G (p.Leu326Val)
c.966C>G (p.Cys322Trp)
c.972C>G (p.Cys324Trp)
c.844C>G (p.Leu282Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149026C>TCA388792332F10c.976C>T (p.Leu326Phe)
c.966C>T (p.Cys322=)
c.972C>T (p.Cys324=)
c.844C>T (p.Leu282Phe)
 gnomAD v4
13g.113149027T>ACA388792337F10c.977T>A (p.Leu326His)
c.967T>A (p.Ser323Thr)
c.973T>A (p.Ser325Thr)
c.845T>A (p.Leu282His)
13g.113149027T>CCA388792338F10c.977T>C (p.Leu326Pro)
c.967T>C (p.Ser323Pro)
c.973T>C (p.Ser325Pro)
c.845T>C (p.Leu282Pro)
13g.113149027T>GCA388792343F10c.977T>G (p.Leu326Arg)
c.967T>G (p.Ser323Ala)
c.973T>G (p.Ser325Ala)
c.845T>G (p.Leu282Arg)
13g.113149028C>ACA388792345F10c.978C>A (p.Leu326=)
c.968C>A (p.Ser323Tyr)
c.974C>A (p.Ser325Tyr)
c.846C>A (p.Leu282=)
13g.113149028C=CA2120140015F10c.978C= (p.Leu326=)
c.968C= (p.Ser323=)
c.974C= (p.Ser325=)
c.846C= (p.Leu282=)
13g.113149028C>GCA388792347F10c.978C>G (p.Leu326=)
c.968C>G (p.Ser323Cys)
c.974C>G (p.Ser325Cys)
c.846C>G (p.Leu282=)
13g.113149028C>TCA388792349F10c.978C>T (p.Leu326=)
c.968C>T (p.Ser323Phe)
c.974C>T (p.Ser325Phe)
c.846C>T (p.Leu282=)
 gnomAD v4
13g.113149029C>ACA485424050F10c.979C>A (p.Arg327=)
c.969C>A (p.Ser323=)
c.975C>A (p.Ser325=)
c.847C>A (p.Arg283=)
13g.113149029C=CA2120140018F10c.979C= (p.Arg327=)
c.969C= (p.Ser323=)
c.975C= (p.Ser325=)
c.847C= (p.Arg283=)
13g.113149029C>GCA388792352F10c.979C>G (p.Arg327Gly)
c.969C>G (p.Ser323=)
c.975C>G (p.Ser325=)
c.847C>G (p.Arg283Gly)
13g.113149029C>TCA7060656F10c.979C>T (p.Arg327Trp)
c.969C>T (p.Ser323=)
c.975C>T (p.Ser325=)
c.847C>T (p.Arg283Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149029_113149030dupCA612868318F10c.979_980dup (p.Leu328GlyfsTer10)
c.969_970dup (p.Gly324AlafsTer21)
c.975_976dup (p.Gly326AlafsTer21)
c.847_848dup (p.Leu284GlyfsTer10)
 dbSNP gnomAD v2
13g.113149030G>ACA7060657F10c.980G>A (p.Arg327Gln)
c.970G>A (p.Gly324Ser)
c.976G>A (p.Gly326Ser)
c.848G>A (p.Arg283Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149030G>CCA388792357F10c.980G>C (p.Arg327Pro)
c.970G>C (p.Gly324Arg)
c.976G>C (p.Gly326Arg)
c.848G>C (p.Arg283Pro)
13g.113149030G=CA2120140022F10c.980G= (p.Arg327=)
c.970G= (p.Gly324=)
c.976G= (p.Gly326=)
c.848G= (p.Arg283=)
13g.113149030G>TCA388792358F10c.980G>T (p.Arg327Leu)
c.970G>T (p.Gly324Cys)
c.976G>T (p.Gly326Cys)
c.848G>T (p.Arg283Leu)
13g.113149031G>ACA388792361F10c.981G>A (p.Arg327=)
c.971G>A (p.Gly324Asp)
c.977G>A (p.Gly326Asp)
c.849G>A (p.Arg283=)
13g.113149031G>CCA388792363F10c.981G>C (p.Arg327=)
c.971G>C (p.Gly324Ala)
c.977G>C (p.Gly326Ala)
c.849G>C (p.Arg283=)
13g.113149031G>TCA388792364F10c.981G>T (p.Arg327=)
c.971G>T (p.Gly324Val)
c.977G>T (p.Gly326Val)
c.849G>T (p.Arg283=)
13g.113149032C>ACA388792367F10c.982C>A (p.Leu328Ile)
c.972C>A (p.Gly324=)
c.978C>A (p.Gly326=)
c.850C>A (p.Leu284Ile)
13g.113149032C>GCA388792370F10c.982C>G (p.Leu328Val)
c.972C>G (p.Gly324=)
c.978C>G (p.Gly326=)
c.850C>G (p.Leu284Val)
13g.113149032C>TCA388792366F10c.982C>T (p.Leu328Phe)
c.972C>T (p.Gly324=)
c.978C>T (p.Gly326=)
c.850C>T (p.Leu284Phe)
13g.113149033T>ACA388792373F10c.983T>A (p.Leu328His)
c.973T>A (p.Ser325Thr)
c.979T>A (p.Ser327Thr)
c.851T>A (p.Leu284His)
13g.113149033T>CCA388792375F10c.983T>C (p.Leu328Pro)
c.973T>C (p.Ser325Pro)
c.979T>C (p.Ser327Pro)
c.851T>C (p.Leu284Pro)
13g.113149033T>GCA388792377F10c.983T>G (p.Leu328Arg)
c.973T>G (p.Ser325Ala)
c.979T>G (p.Ser327Ala)
c.851T>G (p.Leu284Arg)
13g.113149034C>ACA388792383F10c.984C>A (p.Leu328=)
c.974C>A (p.Ser325Ter)
c.980C>A (p.Ser327Ter)
c.852C>A (p.Leu284=)
13g.113149034C=CA2120140026F10c.984C= (p.Leu328=)
c.974C= (p.Ser325=)
c.980C= (p.Ser327=)
c.852C= (p.Leu284=)
13g.113149034C>GCA388792385F10c.984C>G (p.Leu328=)
c.974C>G (p.Ser325Ter)
c.980C>G (p.Ser327Ter)
c.852C>G (p.Leu284=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149034C>TCA388792394F10c.984C>T (p.Leu328=)
c.974C>T (p.Ser325Leu)
c.980C>T (p.Ser327Leu)
c.852C>T (p.Leu284=)
13g.113149036_113149044delCA2623809556F10c.986_994del (p.Lys329_Pro331del)
c.976_984del (p.Arg326_Pro328del)
c.982_990del (p.Arg328_Pro330del)
c.854_862del (p.Lys285_Pro287del)
 gnomAD v4
13g.113149035A>CCA388792398F10c.985A>C (p.Lys329Gln)
c.975A>C (p.Ser325=)
c.981A>C (p.Ser327=)
c.853A>C (p.Lys285Gln)
13g.113149035A>GCA388792400F10c.985A>G (p.Lys329Glu)
c.975A>G (p.Ser325=)
c.981A>G (p.Ser327=)
c.853A>G (p.Lys285Glu)
13g.113149035A>TCA388792403F10c.985A>T (p.Lys329Ter)
c.975A>T (p.Ser325=)
c.981A>T (p.Ser327=)
c.853A>T (p.Lys285Ter)
13g.113149036A>CCA388792406F10c.986A>C (p.Lys329Thr)
c.976A>C (p.Arg326=)
c.982A>C (p.Arg328=)
c.854A>C (p.Lys285Thr)
13g.113149036A>GCA388792408F10c.986A>G (p.Lys329Arg)
c.976A>G (p.Arg326Gly)
c.982A>G (p.Arg328Gly)
c.854A>G (p.Lys285Arg)
13g.113149036A>TCA388792411F10c.986A>T (p.Lys329Met)
c.976A>T (p.Arg326Ter)
c.982A>T (p.Arg328Ter)
c.854A>T (p.Lys285Met)
13g.113149037G>ACA388792418F10c.987G>A (p.Lys329=)
c.977G>A (p.Arg326Lys)
c.983G>A (p.Arg328Lys)
c.855G>A (p.Lys285=)
13g.113149037G>CCA388792413F10c.987G>C (p.Lys329Asn)
c.977G>C (p.Arg326Thr)
c.983G>C (p.Arg328Thr)
c.855G>C (p.Lys285Asn)
13g.113149037G>TCA388792416F10c.987G>T (p.Lys329Asn)
c.977G>T (p.Arg326Ile)
c.983G>T (p.Arg328Ile)
c.855G>T (p.Lys285Asn)
13g.113149038A>CCA388792420F10c.988A>C (p.Thr330Pro)
c.978A>C (p.Arg326Ser)
c.984A>C (p.Arg328Ser)
c.856A>C (p.Thr286Pro)
13g.113149038A>GCA388792422F10c.988A>G (p.Thr330Ala)
c.978A>G (p.Arg326=)
c.984A>G (p.Arg328=)
c.856A>G (p.Thr286Ala)
13g.113149038A>TCA388792424F10c.988A>T (p.Thr330Ser)
c.978A>T (p.Arg326Ser)
c.984A>T (p.Arg328Ser)
c.856A>T (p.Thr286Ser)
13g.113149039C>ACA388792426F10c.989C>A (p.Thr330Asn)
c.979C>A (p.Pro327Thr)
c.985C>A (p.Pro329Thr)
c.857C>A (p.Thr286Asn)
13g.113149039C=CA2120140029F10c.989C= (p.Thr330=)
c.979C= (p.Pro327=)
c.985C= (p.Pro329=)
c.857C= (p.Thr286=)
13g.113149039C>GCA388792428F10c.989C>G (p.Thr330Ser)
c.979C>G (p.Pro327Ala)
c.985C>G (p.Pro329Ala)
c.857C>G (p.Thr286Ser)
13g.113149039C>TCA7060658F10c.989C>T (p.Thr330Ile)
c.979C>T (p.Pro327Ser)
c.985C>T (p.Pro329Ser)
c.857C>T (p.Thr286Ile)
 dbSNP ExAC gnomAD v2
13g.113149040C>ACA388792433F10c.990C>A (p.Thr330=)
c.980C>A (p.Pro327His)
c.986C>A (p.Pro329His)
c.858C>A (p.Thr286=)
 COSMIC
13g.113149040C=CA2120140032F10c.990C= (p.Thr330=)
c.980C= (p.Pro327=)
c.986C= (p.Pro329=)
c.858C= (p.Thr286=)
13g.113149040C>GCA388792436F10c.990C>G (p.Thr330=)
c.980C>G (p.Pro327Arg)
c.986C>G (p.Pro329Arg)
c.858C>G (p.Thr286=)
13g.113149040C>TCA388792439F10c.990C>T (p.Thr330=)
c.980C>T (p.Pro327Leu)
c.986C>T (p.Pro329Leu)
c.858C>T (p.Thr286=)
 dbSNP gnomAD v4
13g.113149041C>ACA388792443F10c.991C>A (p.Pro331Thr)
c.981C>A (p.Pro327=)
c.987C>A (p.Pro329=)
c.859C>A (p.Pro287Thr)
13g.113149041C=CA2120140036F10c.991C= (p.Pro331=)
c.981C= (p.Pro327=)
c.987C= (p.Pro329=)
c.859C= (p.Pro287=)
13g.113149041C>GCA388792446F10c.991C>G (p.Pro331Ala)
c.981C>G (p.Pro327=)
c.987C>G (p.Pro329=)
c.859C>G (p.Pro287Ala)
13g.113149041C>TCA388792448F10c.991C>T (p.Pro331Ser)
c.981C>T (p.Pro327=)
c.987C>T (p.Pro329=)
c.859C>T (p.Pro287Ser)
13g.113149042C>ACA388792452F10c.992C>A (p.Pro331His)
c.982C>A (p.Pro328Thr)
c.988C>A (p.Pro330Thr)
c.860C>A (p.Pro287His)
13g.113149042C>GCA388792455F10c.992C>G (p.Pro331Arg)
c.982C>G (p.Pro328Ala)
c.988C>G (p.Pro330Ala)
c.860C>G (p.Pro287Arg)
13g.113149042C>TCA388792450F10c.992C>T (p.Pro331Leu)
c.982C>T (p.Pro328Ser)
c.988C>T (p.Pro330Ser)
c.860C>T (p.Pro287Leu)
 ClinVar dbSNP
13g.113149043_113149046dupCA2120140038F10c.993_996dup (p.Thr333HisfsTer16)
c.983_986dup (p.Pro330IlefsTer?)
c.989_992dup (p.Pro332IlefsTer?)
c.861_864dup (p.Thr289HisfsTer16)
 dbSNP
13g.113149043C>ACA388792460F10c.993C>A (p.Pro331=)
c.983C>A (p.Pro328Gln)
c.989C>A (p.Pro330Gln)
c.861C>A (p.Pro287=)
13g.113149043C=CA2120140039F10c.993C= (p.Pro331=)
c.983C= (p.Pro328=)
c.989C= (p.Pro330=)
c.861C= (p.Pro287=)
13g.113149043C>GCA388792457F10c.993C>G (p.Pro331=)
c.983C>G (p.Pro328Arg)
c.989C>G (p.Pro330Arg)
c.861C>G (p.Pro287=)
13g.113149043C>TCA7060659F10c.993C>T (p.Pro331=)
c.983C>T (p.Pro328Leu)
c.989C>T (p.Pro330Leu)
c.861C>T (p.Pro287=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149044A=CA2120140041F10c.994A= (p.Ile332=)
c.984A= (p.Pro328=)
c.990A= (p.Pro330=)
c.862A= (p.Ile288=)
13g.113149044A>CCA388792466F10c.994A>C (p.Ile332Leu)
c.984A>C (p.Pro328=)
c.990A>C (p.Pro330=)
c.862A>C (p.Ile288Leu)
13g.113149044A>GCA388792469F10c.994A>G (p.Ile332Val)
c.984A>G (p.Pro328=)
c.990A>G (p.Pro330=)
c.862A>G (p.Ile288Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149044A>TCA388792471F10c.994A>T (p.Ile332Phe)
c.984A>T (p.Pro328=)
c.990A>T (p.Pro330=)
c.862A>T (p.Ile288Phe)
13g.113149045T>ACA388792472F10c.995T>A (p.Ile332Asn)
c.985T>A (p.Ser329Thr)
c.991T>A (p.Ser331Thr)
c.863T>A (p.Ile288Asn)
13g.113149045T>CCA388792477F10c.995T>C (p.Ile332Thr)
c.985T>C (p.Ser329Pro)
c.991T>C (p.Ser331Pro)
c.863T>C (p.Ile288Thr)
13g.113149045T>GCA388792480F10c.995T>G (p.Ile332Ser)
c.985T>G (p.Ser329Ala)
c.991T>G (p.Ser331Ala)
c.863T>G (p.Ile288Ser)
13g.113149046C>ACA388792481F10c.996C>A (p.Ile332=)
c.986C>A (p.Ser329Ter)
c.992C>A (p.Ser331Ter)
c.864C>A (p.Ile288=)
13g.113149046C>GCA388792483F10c.996C>G (p.Ile332Met)
c.986C>G (p.Ser329Ter)
c.992C>G (p.Ser331Ter)
c.864C>G (p.Ile288Met)
13g.113149046C>TCA388792485F10c.996C>T (p.Ile332=)
c.986C>T (p.Ser329Leu)
c.992C>T (p.Ser331Leu)
c.864C>T (p.Ile288=)
13g.113149047A>CCA388792487F10c.997A>C (p.Thr333Pro)
c.987A>C (p.Ser329=)
c.993A>C (p.Ser331=)
c.865A>C (p.Thr289Pro)
13g.113149047A>GCA388792490F10c.997A>G (p.Thr333Ala)
c.987A>G (p.Ser329=)
c.993A>G (p.Ser331=)
c.865A>G (p.Thr289Ala)
13g.113149047A>TCA388792491F10c.997A>T (p.Thr333Ser)
c.987A>T (p.Ser329=)
c.993A>T (p.Ser331=)
c.865A>T (p.Thr289Ser)
13g.113149048C>ACA388792498F10c.998C>A (p.Thr333Asn)
c.988C>A (p.Pro330Thr)
c.994C>A (p.Pro332Thr)
c.866C>A (p.Thr289Asn)
 dbSNP gnomAD v3 gnomAD v4
13g.113149048C=CA2120140043F10c.998C= (p.Thr333=)
c.988C= (p.Pro330=)
c.994C= (p.Pro332=)
c.866C= (p.Thr289=)
13g.113149048C>GCA388792495F10c.998C>G (p.Thr333Ser)
c.988C>G (p.Pro330Ala)
c.994C>G (p.Pro332Ala)
c.866C>G (p.Thr289Ser)
13g.113149048C>TCA388792494F10c.998C>T (p.Thr333Ile)
c.988C>T (p.Pro330Ser)
c.994C>T (p.Pro332Ser)
c.866C>T (p.Thr289Ile)
13g.113149049C>ACA388792502F10c.999C>A (p.Thr333=)
c.989C>A (p.Pro330His)
c.995C>A (p.Pro332His)
c.867C>A (p.Thr289=)
13g.113149049C>GCA388792503F10c.999C>G (p.Thr333=)
c.989C>G (p.Pro330Arg)
c.995C>G (p.Pro332Arg)
c.867C>G (p.Thr289=)
13g.113149049C>TCA388792507F10c.999C>T (p.Thr333=)
c.989C>T (p.Pro330Leu)
c.995C>T (p.Pro332Leu)
c.867C>T (p.Thr289=)
 gnomAD v4
13g.113149050T>ACA388792509F10c.1000T>A (p.Phe334Ile)
c.990T>A (p.Pro330=)
c.996T>A (p.Pro332=)
c.868T>A (p.Phe290Ile)
 gnomAD v4
13g.113149050T>CCA388792511F10c.1000T>C (p.Phe334Leu)
c.990T>C (p.Pro330=)
c.996T>C (p.Pro332=)
c.868T>C (p.Phe290Leu)
13g.113149050T>GCA388792513F10c.1000T>G (p.Phe334Val)
c.990T>G (p.Pro330=)
c.996T>G (p.Pro332=)
c.868T>G (p.Phe290Val)
13g.113149051T>ACA388792516F10c.1001T>A (p.Phe334Tyr)
c.991T>A (p.Ser331Thr)
c.997T>A (p.Ser333Thr)
c.869T>A (p.Phe290Tyr)
13g.113149051T>CCA388792518F10c.1001T>C (p.Phe334Ser)
c.991T>C (p.Ser331Pro)
c.997T>C (p.Ser333Pro)
c.869T>C (p.Phe290Ser)
13g.113149051T>GCA388792520F10c.1001T>G (p.Phe334Cys)
c.991T>G (p.Ser331Ala)
c.997T>G (p.Ser333Ala)
c.869T>G (p.Phe290Cys)
13g.113149052C>ACA388792521F10c.1002C>A (p.Phe334Leu)
c.992C>A (p.Ser331Tyr)
c.998C>A (p.Ser333Tyr)
c.870C>A (p.Phe290Leu)
13g.113149052C>GCA388792523F10c.1002C>G (p.Phe334Leu)
c.992C>G (p.Ser331Cys)
c.998C>G (p.Ser333Cys)
c.870C>G (p.Phe290Leu)
 gnomAD v4
13g.113149052C>TCA388792526F10c.1002C>T (p.Phe334=)
c.992C>T (p.Ser331Phe)
c.998C>T (p.Ser333Phe)
c.870C>T (p.Phe290=)
13g.113149053C>ACA388792532F10c.1003C>A (p.Arg335Ser)
c.993C>A (p.Ser331=)
c.999C>A (p.Ser333=)
c.871C>A (p.Arg291Ser)
13g.113149053C=CA2120140045F10c.1003C= (p.Arg335=)
c.993C= (p.Ser331=)
c.999C= (p.Ser333=)
c.871C= (p.Arg291=)
13g.113149053C>GCA388792530F10c.1003C>G (p.Arg335Gly)
c.993C>G (p.Ser331=)
c.999C>G (p.Ser333=)
c.871C>G (p.Arg291Gly)
13g.113149053C>TCA7060660F10c.1003C>T (p.Arg335Cys)
c.993C>T (p.Ser331=)
c.999C>T (p.Ser333=)
c.871C>T (p.Arg291Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149054G>ACA7060661F10c.1004G>A (p.Arg335His)
c.994G>A (p.Ala332Thr)
c.1000G>A (p.Ala334Thr)
c.872G>A (p.Arg291His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149054G>CCA388792537F10c.1004G>C (p.Arg335Pro)
c.994G>C (p.Ala332Pro)
c.1000G>C (p.Ala334Pro)
c.872G>C (p.Arg291Pro)
 COSMIC
13g.113149054G=CA2120140055F10c.1004G= (p.Arg335=)
c.994G= (p.Ala332=)
c.1000G= (p.Ala334=)
c.872G= (p.Arg291=)
13g.113149054G>TCA388792539F10c.1004G>T (p.Arg335Leu)
c.994G>T (p.Ala332Ser)
c.1000G>T (p.Ala334Ser)
c.872G>T (p.Arg291Leu)
 gnomAD v4
13g.113149055delCA2623809558F10c.1005del (p.Met336Ter)
c.995del (p.Ala332AspfsTer12)
c.1001del (p.Ala334AspfsTer12)
c.873del (p.Met292Ter)
 gnomAD v4
13g.113149055C>ACA388792542F10c.1005C>A (p.Arg335=)
c.995C>A (p.Ala332Glu)
c.1001C>A (p.Ala334Glu)
c.873C>A (p.Arg291=)
13g.113149055C>GCA388792543F10c.1005C>G (p.Arg335=)
c.995C>G (p.Ala332Gly)
c.1001C>G (p.Ala334Gly)
c.873C>G (p.Arg291=)
13g.113149055C>TCA388792545F10c.1005C>T (p.Arg335=)
c.995C>T (p.Ala332Val)
c.1001C>T (p.Ala334Val)
c.873C>T (p.Arg291=)
13g.113149056A=CA2120140061F10c.1006A= (p.Met336=)
c.996A= (p.Ala332=)
c.1002A= (p.Ala334=)
c.874A= (p.Met292=)
13g.113149056A>CCA388792548F10c.1006A>C (p.Met336Leu)
c.996A>C (p.Ala332=)
c.1002A>C (p.Ala334=)
c.874A>C (p.Met292Leu)
13g.113149056A>GCA256478663F10c.1006A>G (p.Met336Val)
c.996A>G (p.Ala332=)
c.1002A>G (p.Ala334=)
c.874A>G (p.Met292Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149056A>TCA388792551F10c.1006A>T (p.Met336Leu)
c.996A>T (p.Ala332=)
c.1002A>T (p.Ala334=)
c.874A>T (p.Met292Leu)
13g.113149057T>ACA388792554F10c.1007T>A (p.Met336Lys)
c.997T>A (p.Ter333Arg)
c.1003T>A (p.Ter335Arg)
c.875T>A (p.Met292Lys)
13g.113149057T>CCA388792556F10c.1007T>C (p.Met336Thr)
c.997T>C (p.Ter333Arg)
c.1003T>C (p.Ter335Arg)
c.875T>C (p.Met292Thr)
13g.113149057T>GCA388792558F10c.1007T>G (p.Met336Arg)
c.997T>G (p.Ter333Gly)
c.1003T>G (p.Ter335Gly)
c.875T>G (p.Met292Arg)
13g.113149058G>ACA388792566F10c.1008G>A (p.Met336Ile)
c.998G>A (p.Ter333=)
c.1004G>A (p.Ter335=)
c.876G>A (p.Met292Ile)
 COSMIC
13g.113149058G>CCA388792563F10c.1008G>C (p.Met336Ile)
c.998G>C (p.Ter333Ser)
c.1004G>C (p.Ter335Ser)
c.876G>C (p.Met292Ile)
13g.113149058G>TCA388792560F10c.1008G>T (p.Met336Ile)
c.998G>T (p.Ter333Leu)
c.1004G>T (p.Ter335Leu)
c.876G>T (p.Met292Ile)
13g.113149059A>CCA388792569F10c.1009A>C (p.Asn337His)
c.999A>C (p.Ter333Cys)
c.1005A>C (p.Ter335Cys)
c.877A>C (p.Asn293His)
13g.113149059A>GCA388792572F10c.1009A>G (p.Asn337Asp)
c.999A>G (p.Ter333Trp)
c.1005A>G (p.Ter335Trp)
c.877A>G (p.Asn293Asp)
13g.113149059A>TCA388792574F10c.1009A>T (p.Asn337Tyr)
c.999A>T (p.Ter333Cys)
c.1005A>T (p.Ter335Cys)
c.877A>T (p.Asn293Tyr)
13g.113149060A>CCA388792577F10c.1010A>C (p.Asn337Thr)
c.*1A>C (n.*1A>C)
c.878A>C (p.Asn293Thr)
13g.113149060A>GCA388792578F10c.1010A>G (p.Asn337Ser)
c.*1A>G (n.*1A>G)
c.878A>G (p.Asn293Ser)
13g.113149060A>TCA388792581F10c.1010A>T (p.Asn337Ile)
c.*1A>T (n.*1A>T)
c.878A>T (p.Asn293Ile)
13g.113149061C>ACA256478665F10c.1011C>A (p.Asn337Lys)
c.*2C>A (n.*2C>A)
c.879C>A (p.Asn293Lys)
 dbSNP gnomAD v3 gnomAD v4
13g.113149061C=CA2120140069F10c.1011C= (p.Asn337=)
c.*2C= (n.*2C=)
c.879C= (p.Asn293=)
13g.113149061C>GCA388792585F10c.1011C>G (p.Asn337Lys)
c.*2C>G (n.*2C>G)
c.879C>G (p.Asn293Lys)
13g.113149061C>TCA7060662F10c.1011C>T (p.Asn337=)
c.*2C>T (n.*2C>T)
c.879C>T (p.Asn293=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149062G>ACA256478666F10c.1012G>A (p.Val338Met)
c.*3G>A (n.*3G>A)
c.880G>A (p.Val294Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149062G>CCA388792588F10c.1012G>C (p.Val338Leu)
c.*3G>C (n.*3G>C)
c.880G>C (p.Val294Leu)
13g.113149062G=CA2120140078F10c.1012G= (p.Val338=)
c.*3G= (n.*3G=)
c.880G= (p.Val294=)
13g.113149062G>TCA388792591F10c.1012G>T (p.Val338Leu)
c.*3G>T (n.*3G>T)
c.880G>T (p.Val294Leu)
 gnomAD v4
13g.113149063T>ACA388792599F10c.1013T>A (p.Val338Glu)
c.*4T>A (n.*4T>A)
c.881T>A (p.Val294Glu)
13g.113149063T>CCA388792597F10c.1013T>C (p.Val338Ala)
c.*4T>C (n.*4T>C)
c.881T>C (p.Val294Ala)
13g.113149063T>GCA388792595F10c.1013T>G (p.Val338Gly)
c.*4T>G (n.*4T>G)
c.881T>G (p.Val294Gly)
13g.113149064G>ACA485424051F10c.1014G>A (p.Val338=)
c.*5G>A (n.*5G>A)
c.882G>A (p.Val294=)
13g.113149064G>CCA7060663F10c.1014G>C (p.Val338=)
c.*5G>C (n.*5G>C)
c.882G>C (p.Val294=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149064G=CA2120140081F10c.1014G= (p.Val338=)
c.*5G= (n.*5G=)
c.882G= (p.Val294=)
13g.113149064G>TCA485424052F10c.1014G>T (p.Val338=)
c.*5G>T (n.*5G>T)
c.882G>T (p.Val294=)
13g.113149065G>ACA388792608F10c.1015G>A (p.Ala339Thr)
c.*6G>A (n.*6G>A)
c.883G>A (p.Ala295Thr)
13g.113149065G>CCA388792603F10c.1015G>C (p.Ala339Pro)
c.*6G>C (n.*6G>C)
c.883G>C (p.Ala295Pro)
13g.113149065G>TCA388792605F10c.1015G>T (p.Ala339Ser)
c.*6G>T (n.*6G>T)
c.883G>T (p.Ala295Ser)
13g.113149066C>ACA388792612F10c.1016C>A (p.Ala339Glu)
c.*7C>A (n.*7C>A)
c.884C>A (p.Ala295Glu)
13g.113149066C=CA2120140083F10c.1016C= (p.Ala339=)
c.*7C= (n.*7C=)
c.884C= (p.Ala295=)
13g.113149066C>GCA388792614F10c.1016C>G (p.Ala339Gly)
c.*7C>G (n.*7C>G)
c.884C>G (p.Ala295Gly)
13g.113149066C>TCA7060664F10c.1016C>T (p.Ala339Val)
c.*7C>T (n.*7C>T)
c.884C>T (p.Ala295Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149067G>ACA7060665F10c.1017G>A (p.Ala339=)
c.*8G>A (n.*8G>A)
c.885G>A (p.Ala295=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149067G>CCA485424053F10c.1017G>C (p.Ala339=)
c.*8G>C (n.*8G>C)
c.885G>C (p.Ala295=)
13g.113149067G=CA2120140086F10c.1017G= (p.Ala339=)
c.*8G= (n.*8G=)
c.885G= (p.Ala295=)
13g.113149067G>TCA485424054F10c.1017G>T (p.Ala339=)
c.*8G>T (n.*8G>T)
c.885G>T (p.Ala295=)
 dbSNP gnomAD v2 gnomAD v4
13g.113149075_113149078dupCA2623809560F10c.1025_1028dup (p.Glu345ProfsTer4)
c.*16_*19dup (n.*16_*19dup)
c.893_896dup (p.Glu301ProfsTer4)
 gnomAD v4
13g.113149068C>ACA388792621F10c.1018C>A (p.Pro340Thr)
c.*9C>A (n.*9C>A)
c.886C>A (p.Pro296Thr)
13g.113149068C=CA2120140089F10c.1018C= (p.Pro340=)
c.*9C= (n.*9C=)
c.886C= (p.Pro296=)
13g.113149068C>GCA256478670F10c.1018C>G (p.Pro340Ala)
c.*9C>G (n.*9C>G)
c.886C>G (p.Pro296Ala)
 dbSNP gnomAD v4
13g.113149068C>TCA7060666F10c.1018C>T (p.Pro340Ser)
c.*9C>T (n.*9C>T)
c.886C>T (p.Pro296Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149069C>ACA388792626F10c.1019C>A (p.Pro340His)
c.*10C>A (n.*10C>A)
c.887C>A (p.Pro296His)
13g.113149069C>GCA388792629F10c.1019C>G (p.Pro340Arg)
c.*10C>G (n.*10C>G)
c.887C>G (p.Pro296Arg)
13g.113149069C>TCA388792631F10c.1019C>T (p.Pro340Leu)
c.*10C>T (n.*10C>T)
c.887C>T (p.Pro296Leu)
 gnomAD v4
13g.113149070T>ACA485424055F10c.1020T>A (p.Pro340=)
c.*11T>A (n.*11T>A)
c.888T>A (p.Pro296=)
13g.113149070T>CCA485424056F10c.1020T>C (p.Pro340=)
c.*11T>C (n.*11T>C)
c.888T>C (p.Pro296=)
 dbSNP
13g.113149070T>GCA485424057F10c.1020T>G (p.Pro340=)
c.*11T>G (n.*11T>G)
c.888T>G (p.Pro296=)
13g.113149071G>ACA256478672F10c.1021G>A (p.Ala341Thr)
c.*12G>A (n.*12G>A)
c.889G>A (p.Ala297Thr)
 dbSNP
13g.113149071G>CCA388792633F10c.1021G>C (p.Ala341Pro)
c.*12G>C (n.*12G>C)
c.889G>C (p.Ala297Pro)
 dbSNP gnomAD v2 gnomAD v4
13g.113149071G=CA2120140092F10c.1021G= (p.Ala341=)
c.*12G= (n.*12G=)
c.889G= (p.Ala297=)
13g.113149071G>TCA388792634F10c.1021G>T (p.Ala341Ser)
c.*12G>T (n.*12G>T)
c.889G>T (p.Ala297Ser)
13g.113149072C>ACA388792637F10c.1022C>A (p.Ala341Asp)
c.*13C>A (n.*13C>A)
c.890C>A (p.Ala297Asp)
13g.113149072C>GCA388792639F10c.1022C>G (p.Ala341Gly)
c.*13C>G (n.*13C>G)
c.890C>G (p.Ala297Gly)
13g.113149072C>TCA388792641F10c.1022C>T (p.Ala341Val)
c.*13C>T (n.*13C>T)
c.890C>T (p.Ala297Val)
13g.113149073C>ACA485424058F10c.1023C>A (p.Ala341=)
c.*14C>A (n.*14C>A)
c.891C>A (p.Ala297=)
13g.113149073C>GCA485424059F10c.1023C>G (p.Ala341=)
c.*14C>G (n.*14C>G)
c.891C>G (p.Ala297=)
13g.113149073C>TCA485424060F10c.1023C>T (p.Ala341=)
c.*14C>T (n.*14C>T)
c.891C>T (p.Ala297=)
13g.113149074T>ACA388792642F10c.1024T>A (p.Cys342Ser)
c.*15T>A (n.*15T>A)
c.892T>A (p.Cys298Ser)
13g.113149074T>CCA388792644F10c.1024T>C (p.Cys342Arg)
c.*15T>C (n.*15T>C)
c.892T>C (p.Cys298Arg)
 dbSNP gnomAD v2 gnomAD v4
13g.113149074T>GCA388792647F10c.1024T>G (p.Cys342Gly)
c.*15T>G (n.*15T>G)
c.892T>G (p.Cys298Gly)
13g.113149074T=CA2120140095F10c.1024T= (p.Cys342=)
c.*15T= (n.*15T=)
c.892T= (p.Cys298=)
13g.113149075G>ACA388792650F10c.1025G>A (p.Cys342Tyr)
c.*16G>A (n.*16G>A)
c.893G>A (p.Cys298Tyr)
13g.113149075G>CCA388792653F10c.1025G>C (p.Cys342Ser)
c.*16G>C (n.*16G>C)
c.893G>C (p.Cys298Ser)
13g.113149075G>TCA388792655F10c.1025G>T (p.Cys342Phe)
c.*16G>T (n.*16G>T)
c.893G>T (p.Cys298Phe)
13g.113149076C>ACA388792657F10c.1026C>A (p.Cys342Ter)
c.*17C>A (n.*17C>A)
c.894C>A (p.Cys298Ter)
13g.113149076C>GCA388792660F10c.1026C>G (p.Cys342Trp)
c.*17C>G (n.*17C>G)
c.894C>G (p.Cys298Trp)
13g.113149076C>TCA485424061F10c.1026C>T (p.Cys342=)
c.*17C>T (n.*17C>T)
c.894C>T (p.Cys298=)
13g.113149077C>ACA388792665F10c.1027C>A (p.Leu343Ile)
c.*18C>A (n.*18C>A)
c.895C>A (p.Leu299Ile)
 gnomAD v4
13g.113149077C>GCA388792668F10c.1027C>G (p.Leu343Val)
c.*18C>G (n.*18C>G)
c.895C>G (p.Leu299Val)
13g.113149077C>TCA388792663F10c.1027C>T (p.Leu343Phe)
c.*18C>T (n.*18C>T)
c.895C>T (p.Leu299Phe)
13g.113149078T>ACA388792669F10c.1028T>A (p.Leu343His)
c.*19T>A (n.*19T>A)
c.896T>A (p.Leu299His)
13g.113149078T>CCA388792671F10c.1028T>C (p.Leu343Pro)
c.*19T>C (n.*19T>C)
c.896T>C (p.Leu299Pro)
 COSMIC
13g.113149078T>GCA388792673F10c.1028T>G (p.Leu343Arg)
c.*19T>G (n.*19T>G)
c.896T>G (p.Leu299Arg)
13g.113149079C>ACA485424062F10c.1029C>A (p.Leu343=)
c.*20C>A (n.*20C>A)
c.897C>A (p.Leu299=)
13g.113149079C>GCA485424063F10c.1029C>G (p.Leu343=)
c.*20C>G (n.*20C>G)
c.897C>G (p.Leu299=)
13g.113149079C>TCA485424064F10c.1029C>T (p.Leu343=)
c.*20C>T (n.*20C>T)
c.897C>T (p.Leu299=)
13g.113149080C>ACA388792675F10c.1030C>A (p.Pro344Thr)
c.*21C>A (n.*21C>A)
c.898C>A (p.Pro300Thr)
13g.113149080C>GCA388792677F10c.1030C>G (p.Pro344Ala)
c.*21C>G (n.*21C>G)
c.898C>G (p.Pro300Ala)
13g.113149080C>TCA388792679F10c.1030C>T (p.Pro344Ser)
c.*21C>T (n.*21C>T)
c.898C>T (p.Pro300Ser)
13g.113149081C>ACA388792681F10c.1031C>A (p.Pro344His)
c.*22C>A (n.*22C>A)
c.899C>A (p.Pro300His)
 COSMIC
13g.113149081C>GCA388792684F10c.1031C>G (p.Pro344Arg)
c.*22C>G (n.*22C>G)
c.899C>G (p.Pro300Arg)
 gnomAD v4
13g.113149081C>TCA388792686F10c.1031C>T (p.Pro344Leu)
c.*22C>T (n.*22C>T)
c.899C>T (p.Pro300Leu)
13g.113149082C>ACA485424065F10c.1032C>A (p.Pro344=)
c.*23C>A (n.*23C>A)
c.900C>A (p.Pro300=)
 COSMIC
13g.113149082C=CA2120140126F10c.1032C= (p.Pro344=)
c.*23C= (n.*23C=)
c.900C= (p.Pro300=)
13g.113149082C>GCA485424066F10c.1032C>G (p.Pro344=)
c.*23C>G (n.*23C>G)
c.900C>G (p.Pro300=)
 gnomAD v4
13g.113149082C>TCA7060667F10c.1032C>T (p.Pro344=)
c.*23C>T (n.*23C>T)
c.900C>T (p.Pro300=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149083G>ACA7060668F10c.1033G>A (p.Glu345Lys)
c.*24G>A (n.*24G>A)
c.901G>A (p.Glu301Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149083G>CCA388792692F10c.1033G>C (p.Glu345Gln)
c.*24G>C (n.*24G>C)
c.901G>C (p.Glu301Gln)
 gnomAD v4
13g.113149083G=CA2120140133F10c.1033G= (p.Glu345=)
c.*24G= (n.*24G=)
c.901G= (p.Glu301=)
13g.113149083G>TCA388792694F10c.1033G>T (p.Glu345Ter)
c.*24G>T (n.*24G>T)
c.901G>T (p.Glu301Ter)
13g.113149084A>CCA388792702F10c.1034A>C (p.Glu345Ala)
c.*25A>C (n.*25A>C)
c.902A>C (p.Glu301Ala)
13g.113149084A>GCA388792700F10c.1034A>G (p.Glu345Gly)
c.*25A>G (n.*25A>G)
c.902A>G (p.Glu301Gly)
13g.113149084A>TCA388792697F10c.1034A>T (p.Glu345Val)
c.*25A>T (n.*25A>T)
c.902A>T (p.Glu301Val)
13g.113149085G>ACA7060669F10c.1035G>A (p.Glu345=)
c.*26G>A (n.*26G>A)
c.903G>A (p.Glu301=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149085G>CCA388792706F10c.1035G>C (p.Glu345Asp)
c.*26G>C (n.*26G>C)
c.903G>C (p.Glu301Asp)
13g.113149085G=CA2120140137F10c.1035G= (p.Glu345=)
c.*26G= (n.*26G=)
c.903G= (p.Glu301=)
13g.113149085G>TCA388792707F10c.1035G>T (p.Glu345Asp)
c.*26G>T (n.*26G>T)
c.903G>T (p.Glu301Asp)
13g.113149086C>ACA388792709F10c.1036C>A (p.Arg346Ser)
c.*27C>A (n.*27C>A)
c.904C>A (p.Arg302Ser)
 gnomAD v4
13g.113149086C=CA2120140139F10c.1036C= (p.Arg346=)
c.*27C= (n.*27C=)
c.904C= (p.Arg302=)
13g.113149086C>GCA388792710F10c.1036C>G (p.Arg346Gly)
c.*27C>G (n.*27C>G)
c.904C>G (p.Arg302Gly)
13g.113149086C>TCA7060670F10c.1036C>T (p.Arg346Cys)
c.*27C>T (n.*27C>T)
c.904C>T (p.Arg302Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149087G>ACA7060671F10c.1037G>A (p.Arg346His)
c.*28G>A (n.*28G>A)
c.905G>A (p.Arg302His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149087G>CCA388792718F10c.1037G>C (p.Arg346Pro)
c.*28G>C (n.*28G>C)
c.905G>C (p.Arg302Pro)
13g.113149087G=CA2120140142F10c.1037G= (p.Arg346=)
c.*28G= (n.*28G=)
c.905G= (p.Arg302=)
13g.113149087G>TCA388792720F10c.1037G>T (p.Arg346Leu)
c.*28G>T (n.*28G>T)
c.905G>T (p.Arg302Leu)
 dbSNP gnomAD v2 gnomAD v4
13g.113149088T>ACA485424067F10c.1038T>A (p.Arg346=)
c.*29T>A (n.*29T>A)
c.906T>A (p.Arg302=)
13g.113149088T>CCA485424068F10c.1038T>C (p.Arg346=)
c.*29T>C (n.*29T>C)
c.906T>C (p.Arg302=)
13g.113149088T>GCA7060672F10c.1038T>G (p.Arg346=)
c.*29T>G (n.*29T>G)
c.906T>G (p.Arg302=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149088T=CA2120140146F10c.1038T= (p.Arg346=)
c.*29T= (n.*29T=)
c.906T= (p.Arg302=)
13g.113149089G>ACA388792723F10c.1039G>A (p.Asp347Asn)
c.*30G>A (n.*30G>A)
c.907G>A (p.Asp303Asn)
 gnomAD v4
13g.113149089G>CCA388792725F10c.1039G>C (p.Asp347His)
c.*30G>C (n.*30G>C)
c.907G>C (p.Asp303His)
13g.113149089G>TCA388792728F10c.1039G>T (p.Asp347Tyr)
c.*30G>T (n.*30G>T)
c.907G>T (p.Asp303Tyr)
13g.113149090A>CCA388792733F10c.1040A>C (p.Asp347Ala)
c.*31A>C (n.*31A>C)
c.908A>C (p.Asp303Ala)
13g.113149090A>GCA388792734F10c.1040A>G (p.Asp347Gly)
c.*31A>G (n.*31A>G)
c.908A>G (p.Asp303Gly)
 gnomAD v4
13g.113149090A>TCA388792731F10c.1040A>T (p.Asp347Val)
c.*31A>T (n.*31A>T)
c.908A>T (p.Asp303Val)
13g.113149091C>ACA388792735F10c.1041C>A (p.Asp347Glu)
c.*32C>A (n.*32C>A)
c.909C>A (p.Asp303Glu)
13g.113149091C=CA2120140149F10c.1041C= (p.Asp347=)
c.*32C= (n.*32C=)
c.909C= (p.Asp303=)
13g.113149091C>GCA388792737F10c.1041C>G (p.Asp347Glu)
c.*32C>G (n.*32C>G)
c.909C>G (p.Asp303Glu)
13g.113149091C>TCA485424069F10c.1041C>T (p.Asp347=)
c.*32C>T (n.*32C>T)
c.909C>T (p.Asp303=)
 dbSNP gnomAD v3 gnomAD v4
13g.113149092T>ACA388792738F10c.1042T>A (p.Trp348Arg)
c.*33T>A (n.*33T>A)
c.910T>A (p.Trp304Arg)
13g.113149092T>CCA7060673F10c.1042T>C (p.Trp348Arg)
c.*33T>C (n.*33T>C)
c.910T>C (p.Trp304Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149092T>GCA388792742F10c.1042T>G (p.Trp348Gly)
c.*33T>G (n.*33T>G)
c.910T>G (p.Trp304Gly)
13g.113149092T=CA2120140151F10c.1042T= (p.Trp348=)
c.*33T= (n.*33T=)
c.910T= (p.Trp304=)
13g.113149093G>ACA388792748F10c.1043G>A (p.Trp348Ter)
c.*34G>A (n.*34G>A)
c.911G>A (p.Trp304Ter)
 ClinVar dbSNP
13g.113149093G>CCA388792746F10c.1043G>C (p.Trp348Ser)
c.*34G>C (n.*34G>C)
c.911G>C (p.Trp304Ser)
13g.113149093G=CA2120140155F10c.1043G= (p.Trp348=)
c.*34G= (n.*34G=)
c.911G= (p.Trp304=)
13g.113149093G>TCA388792745F10c.1043G>T (p.Trp348Leu)
c.*34G>T (n.*34G>T)
c.911G>T (p.Trp304Leu)
 gnomAD v4
13g.113149094G>ACA388792750F10c.1044G>A (p.Trp348Ter)
c.*35G>A (n.*35G>A)
c.912G>A (p.Trp304Ter)
 dbSNP gnomAD v3 gnomAD v4
13g.113149094G>CCA388792752F10c.1044G>C (p.Trp348Cys)
c.*35G>C (n.*35G>C)
c.912G>C (p.Trp304Cys)
13g.113149094G=CA2120140160F10c.1044G= (p.Trp348=)
c.*35G= (n.*35G=)
c.912G= (p.Trp304=)
13g.113149094G>TCA388792755F10c.1044G>T (p.Trp348Cys)
c.*35G>T (n.*35G>T)
c.912G>T (p.Trp304Cys)
13g.113149095G>ACA7060674F10c.1045G>A (p.Ala349Thr)
c.*36G>A (n.*36G>A)
c.913G>A (p.Ala305Thr)
 dbSNP ExAC gnomAD v2
13g.113149095G>CCA388792757F10c.1045G>C (p.Ala349Pro)
c.*36G>C (n.*36G>C)
c.913G>C (p.Ala305Pro)
13g.113149095G=CA2120140163F10c.1045G= (p.Ala349=)
c.*36G= (n.*36G=)
c.913G= (p.Ala305=)
13g.113149095G>TCA388792758F10c.1045G>T (p.Ala349Ser)
c.*36G>T (n.*36G>T)
c.913G>T (p.Ala305Ser)
13g.113149096C>ACA388792766F10c.1046C>A (p.Ala349Asp)
c.*37C>A (n.*37C>A)
c.914C>A (p.Ala305Asp)
13g.113149096C>GCA388792761F10c.1046C>G (p.Ala349Gly)
c.*37C>G (n.*37C>G)
c.914C>G (p.Ala305Gly)
13g.113149096C>TCA388792764F10c.1046C>T (p.Ala349Val)
c.*37C>T (n.*37C>T)
c.914C>T (p.Ala305Val)
13g.113149097C>ACA485424070F10c.1047C>A (p.Ala349=)
c.*38C>A (n.*38C>A)
c.915C>A (p.Ala305=)
 gnomAD v4
13g.113149097C=CA2120140166F10c.1047C= (p.Ala349=)
c.*38C= (n.*38C=)
c.915C= (p.Ala305=)
13g.113149097C>GCA485424071F10c.1047C>G (p.Ala349=)
c.*38C>G (n.*38C>G)
c.915C>G (p.Ala305=)
 gnomAD v4
13g.113149097C>TCA256478678F10c.1047C>T (p.Ala349=)
c.*38C>T (n.*38C>T)
c.915C>T (p.Ala305=)
 dbSNP gnomAD v3 gnomAD v4
13g.113149098delCA2623809576F10c.1048del (p.Glu350SerfsTer4)
c.*39del (n.*39del)
c.916del (p.Glu306SerfsTer4)
 gnomAD v4
13g.113149098G>ACA256478679F10c.1048G>A (p.Glu350Lys)
c.*39G>A (n.*39G>A)
c.916G>A (p.Glu306Lys)
 dbSNP gnomAD v3 gnomAD v4
13g.113149098G>CCA388792770F10c.1048G>C (p.Glu350Gln)
c.*39G>C (n.*39G>C)
c.916G>C (p.Glu306Gln)
13g.113149098G=CA2120140169F10c.1048G= (p.Glu350=)
c.*39G= (n.*39G=)
c.916G= (p.Glu306=)
13g.113149098G>TCA388792773F10c.1048G>T (p.Glu350Ter)
c.*39G>T (n.*39G>T)
c.916G>T (p.Glu306Ter)

Number of alleles fetched