Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.38351287dupCA2580089329SPRED1c.958dup (p.Ile320AsnfsTer2)
c.994dup (p.Ile332AsnfsTer2)
c.736dup (p.Ile246AsnfsTer2)
c.895dup (p.Ile299AsnfsTer2)
ClinVar
15g.38351284A>CCA391933617SPRED1c.955A>C (p.Lys319Gln)
c.991A>C (p.Lys331Gln)
c.733A>C (p.Lys245Gln)
c.892A>C (p.Lys298Gln)
15g.38351284A>GCA391933618SPRED1c.955A>G (p.Lys319Glu)
c.991A>G (p.Lys331Glu)
c.733A>G (p.Lys245Glu)
c.892A>G (p.Lys298Glu)
15g.38351284A>TCA391933619SPRED1c.955A>T (p.Lys319Ter)
c.991A>T (p.Lys331Ter)
c.733A>T (p.Lys245Ter)
c.892A>T (p.Lys298Ter)
15g.38351285A>CCA391933622SPRED1c.956A>C (p.Lys319Thr)
c.992A>C (p.Lys331Thr)
c.734A>C (p.Lys245Thr)
c.893A>C (p.Lys298Thr)
15g.38351285A>GCA391933621SPRED1c.956A>G (p.Lys319Arg)
c.992A>G (p.Lys331Arg)
c.734A>G (p.Lys245Arg)
c.893A>G (p.Lys298Arg)
15g.38351285A>TCA391933620SPRED1c.956A>T (p.Lys319Ile)
c.992A>T (p.Lys331Ile)
c.734A>T (p.Lys245Ile)
c.893A>T (p.Lys298Ile)
15g.38351286A>CCA391933623SPRED1c.957A>C (p.Lys319Asn)
c.993A>C (p.Lys331Asn)
c.735A>C (p.Lys245Asn)
c.894A>C (p.Lys298Asn)
gnomAD v4
15g.38351286A>GCA490012330SPRED1c.957A>G (p.Lys319=)
c.993A>G (p.Lys331=)
c.735A>G (p.Lys245=)
c.894A>G (p.Lys298=)
15g.38351286A>TCA391933624SPRED1c.957A>T (p.Lys319Asn)
c.993A>T (p.Lys331Asn)
c.735A>T (p.Lys245Asn)
c.894A>T (p.Lys298Asn)
15g.38351287A>CCA391933625SPRED1c.958A>C (p.Ile320Leu)
c.994A>C (p.Ile332Leu)
c.736A>C (p.Ile246Leu)
c.895A>C (p.Ile299Leu)
gnomAD v4
15g.38351287A>GCA391933626SPRED1c.958A>G (p.Ile320Val)
c.994A>G (p.Ile332Val)
c.736A>G (p.Ile246Val)
c.895A>G (p.Ile299Val)
ClinVar
15g.38351287A>TCA391933627SPRED1c.958A>T (p.Ile320Phe)
c.994A>T (p.Ile332Phe)
c.736A>T (p.Ile246Phe)
c.895A>T (p.Ile299Phe)
15g.38351288T>ACA391933628SPRED1c.959T>A (p.Ile320Asn)
c.995T>A (p.Ile332Asn)
c.737T>A (p.Ile246Asn)
c.896T>A (p.Ile299Asn)
15g.38351288T>CCA391933629SPRED1c.959T>C (p.Ile320Thr)
c.995T>C (p.Ile332Thr)
c.737T>C (p.Ile246Thr)
c.896T>C (p.Ile299Thr)
15g.38351288T>GCA391933630SPRED1c.959T>G (p.Ile320Ser)
c.995T>G (p.Ile332Ser)
c.737T>G (p.Ile246Ser)
c.896T>G (p.Ile299Ser)
15g.38351289_38351296delCA645591363SPRED1c.960_967del (p.Lys322ThrfsTer7)
c.996_1003del (p.Lys334ThrfsTer7)
c.738_745del (p.Lys248ThrfsTer7)
c.897_904del (p.Lys301ThrfsTer7)
COSMIC
15g.38351289T>ACA490012335SPRED1c.960T>A (p.Ile320=)
c.996T>A (p.Ile332=)
c.738T>A (p.Ile246=)
c.897T>A (p.Ile299=)
15g.38351289T>CCA490012336SPRED1c.960T>C (p.Ile320=)
c.996T>C (p.Ile332=)
c.738T>C (p.Ile246=)
c.897T>C (p.Ile299=)
gnomAD v4
15g.38351289T>GCA391933631SPRED1c.960T>G (p.Ile320Met)
c.996T>G (p.Ile332Met)
c.738T>G (p.Ile246Met)
c.897T>G (p.Ile299Met)
15g.38351290A>CCA391933632SPRED1c.961A>C (p.Lys321Gln)
c.997A>C (p.Lys333Gln)
c.739A>C (p.Lys247Gln)
c.898A>C (p.Lys300Gln)
15g.38351290A>GCA391933633SPRED1c.961A>G (p.Lys321Glu)
c.997A>G (p.Lys333Glu)
c.739A>G (p.Lys247Glu)
c.898A>G (p.Lys300Glu)
15g.38351290A>TCA391933634SPRED1c.961A>T (p.Lys321Ter)
c.997A>T (p.Lys333Ter)
c.739A>T (p.Lys247Ter)
c.898A>T (p.Lys300Ter)
15g.38351291A>CCA391933635SPRED1c.962A>C (p.Lys321Thr)
c.998A>C (p.Lys333Thr)
c.740A>C (p.Lys247Thr)
c.899A>C (p.Lys300Thr)
ClinVar
15g.38351291A>GCA391933636SPRED1c.962A>G (p.Lys321Arg)
c.998A>G (p.Lys333Arg)
c.740A>G (p.Lys247Arg)
c.899A>G (p.Lys300Arg)
ClinVar
15g.38351291A>TCA391933637SPRED1c.962A>T (p.Lys321Met)
c.998A>T (p.Lys333Met)
c.740A>T (p.Lys247Met)
c.899A>T (p.Lys300Met)
15g.38351291_38351297delinsAGAAGTCCA2170812648SPRED1c.962_968delinsAGAAGTC (p.Lys321=)
c.998_1004delinsAGAAGTC (p.Lys333=)
c.740_746delinsAGAAGTC (p.Lys247=)
c.899_905delinsAGAAGTC (p.Lys300=)
15g.38351292G>ACA7470212SPRED1c.963G>A (p.Lys321=)
c.999G>A (p.Lys333=)
c.741G>A (p.Lys247=)
c.900G>A (p.Lys300=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351292G>CCA391933639SPRED1c.963G>C (p.Lys321Asn)
c.999G>C (p.Lys333Asn)
c.741G>C (p.Lys247Asn)
c.900G>C (p.Lys300Asn)
ClinVar
15g.38351292G=CA2170812649SPRED1c.963G= (p.Lys321=)
c.999G= (p.Lys333=)
c.741G= (p.Lys247=)
c.900G= (p.Lys300=)
15g.38351292G>TCA391933638SPRED1c.963G>T (p.Lys321Asn)
c.999G>T (p.Lys333Asn)
c.741G>T (p.Lys247Asn)
c.900G>T (p.Lys300Asn)
15g.38351292_38351297delCA7470211SPRED1c.963_968del (p.Lys322_Ser323del)
c.999_1004del (p.Lys334_Ser335del)
c.741_746del (p.Lys248_Ser249del)
c.900_905del (p.Lys301_Ser302del)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351293A>CCA391933640SPRED1c.964A>C (p.Lys322Gln)
c.1000A>C (p.Lys334Gln)
c.742A>C (p.Lys248Gln)
c.901A>C (p.Lys301Gln)
15g.38351293A>GCA391933641SPRED1c.964A>G (p.Lys322Glu)
c.1000A>G (p.Lys334Glu)
c.742A>G (p.Lys248Glu)
c.901A>G (p.Lys301Glu)
gnomAD v4
15g.38351293A>TCA391933642SPRED1c.964A>T (p.Lys322Ter)
c.1000A>T (p.Lys334Ter)
c.742A>T (p.Lys248Ter)
c.901A>T (p.Lys301Ter)
ClinVar
15g.38351294A=CA2170812650SPRED1c.965A= (p.Lys322=)
c.1001A= (p.Lys334=)
c.743A= (p.Lys248=)
c.902A= (p.Lys301=)
15g.38351294A>CCA391933643SPRED1c.965A>C (p.Lys322Thr)
c.1001A>C (p.Lys334Thr)
c.743A>C (p.Lys248Thr)
c.902A>C (p.Lys301Thr)
dbSNP gnomAD v2 gnomAD v4
15g.38351294A>GCA391933644SPRED1c.965A>G (p.Lys322Arg)
c.1001A>G (p.Lys334Arg)
c.743A>G (p.Lys248Arg)
c.902A>G (p.Lys301Arg)
15g.38351294A>TCA391933645SPRED1c.965A>T (p.Lys322Met)
c.1001A>T (p.Lys334Met)
c.743A>T (p.Lys248Met)
c.902A>T (p.Lys301Met)
15g.38351295G>ACA490012350SPRED1c.966G>A (p.Lys322=)
c.1002G>A (p.Lys334=)
c.744G>A (p.Lys248=)
c.903G>A (p.Lys301=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.38351295G>CCA391933646SPRED1c.966G>C (p.Lys322Asn)
c.1002G>C (p.Lys334Asn)
c.744G>C (p.Lys248Asn)
c.903G>C (p.Lys301Asn)
15g.38351295G=CA2170812651SPRED1c.966G= (p.Lys322=)
c.1002G= (p.Lys334=)
c.744G= (p.Lys248=)
c.903G= (p.Lys301=)
15g.38351295G>TCA391933647SPRED1c.966G>T (p.Lys322Asn)
c.1002G>T (p.Lys334Asn)
c.744G>T (p.Lys248Asn)
c.903G>T (p.Lys301Asn)
15g.38351296T>ACA391933648SPRED1c.967T>A (p.Ser323Thr)
c.1003T>A (p.Ser335Thr)
c.745T>A (p.Ser249Thr)
c.904T>A (p.Ser302Thr)
15g.38351296T>CCA391933649SPRED1c.967T>C (p.Ser323Pro)
c.1003T>C (p.Ser335Pro)
c.745T>C (p.Ser249Pro)
c.904T>C (p.Ser302Pro)
15g.38351296T>GCA391933650SPRED1c.967T>G (p.Ser323Ala)
c.1003T>G (p.Ser335Ala)
c.745T>G (p.Ser249Ala)
c.904T>G (p.Ser302Ala)
ClinVar
15g.38351296_38351310delinsTCAAAACGAAGAAAACA2170812652SPRED1c.967_981delinsTCAAAACGAAGAAAA (p.Ser323=)
c.1003_1017delinsTCAAAACGAAGAAAA (p.Ser335=)
c.745_759delinsTCAAAACGAAGAAAA (p.Ser249=)
c.904_918delinsTCAAAACGAAGAAAA (p.Ser302=)
15g.38351297C>ACA391933653SPRED1c.968C>A (p.Ser323Ter)
c.1004C>A (p.Ser335Ter)
c.746C>A (p.Ser249Ter)
c.905C>A (p.Ser302Ter)
15g.38351297C>GCA391933651SPRED1c.968C>G (p.Ser323Ter)
c.1004C>G (p.Ser335Ter)
c.746C>G (p.Ser249Ter)
c.905C>G (p.Ser302Ter)
15g.38351297C>TCA391933652SPRED1c.968C>T (p.Ser323Leu)
c.1004C>T (p.Ser335Leu)
c.746C>T (p.Ser249Leu)
c.905C>T (p.Ser302Leu)
15g.38351297_38351310delCA2170812653SPRED1c.968_981del (p.Ser323Ter)
c.1004_1017del (p.Ser335Ter)
c.746_759del (p.Ser249Ter)
c.905_918del (p.Ser302Ter)
dbSNP
15g.38351298A>CCA490012355SPRED1c.969A>C (p.Ser323=)
c.1005A>C (p.Ser335=)
c.747A>C (p.Ser249=)
c.906A>C (p.Ser302=)
15g.38351298A>GCA490012356SPRED1c.969A>G (p.Ser323=)
c.1005A>G (p.Ser335=)
c.747A>G (p.Ser249=)
c.906A>G (p.Ser302=)
15g.38351298A>TCA490012357SPRED1c.969A>T (p.Ser323=)
c.1005A>T (p.Ser335=)
c.747A>T (p.Ser249=)
c.906A>T (p.Ser302=)
15g.38351299A>CCA391933654SPRED1c.970A>C (p.Lys324Gln)
c.1006A>C (p.Lys336Gln)
c.748A>C (p.Lys250Gln)
c.907A>C (p.Lys303Gln)
15g.38351299A>GCA391933655SPRED1c.970A>G (p.Lys324Glu)
c.1006A>G (p.Lys336Glu)
c.748A>G (p.Lys250Glu)
c.907A>G (p.Lys303Glu)
COSMIC
15g.38351299A>TCA391933656SPRED1c.970A>T (p.Lys324Ter)
c.1006A>T (p.Lys336Ter)
c.748A>T (p.Lys250Ter)
c.907A>T (p.Lys303Ter)
15g.38351300A>CCA391933657SPRED1c.971A>C (p.Lys324Thr)
c.1007A>C (p.Lys336Thr)
c.749A>C (p.Lys250Thr)
c.908A>C (p.Lys303Thr)
15g.38351300A>GCA391933658SPRED1c.971A>G (p.Lys324Arg)
c.1007A>G (p.Lys336Arg)
c.749A>G (p.Lys250Arg)
c.908A>G (p.Lys303Arg)
15g.38351300A>TCA391933659SPRED1c.971A>T (p.Lys324Ile)
c.1007A>T (p.Lys336Ile)
c.749A>T (p.Lys250Ile)
c.908A>T (p.Lys303Ile)
15g.38351301A=CA2170812654SPRED1c.972A= (p.Lys324=)
c.1008A= (p.Lys336=)
c.750A= (p.Lys250=)
c.909A= (p.Lys303=)
15g.38351301A>CCA391933660SPRED1c.972A>C (p.Lys324Asn)
c.1008A>C (p.Lys336Asn)
c.750A>C (p.Lys250Asn)
c.909A>C (p.Lys303Asn)
gnomAD v4
15g.38351301A>GCA490012361SPRED1c.972A>G (p.Lys324=)
c.1008A>G (p.Lys336=)
c.750A>G (p.Lys250=)
c.909A>G (p.Lys303=)
dbSNP gnomAD v4
15g.38351301A>TCA391933661SPRED1c.972A>T (p.Lys324Asn)
c.1008A>T (p.Lys336Asn)
c.750A>T (p.Lys250Asn)
c.909A>T (p.Lys303Asn)
15g.38351302C>ACA490012362SPRED1c.973C>A (p.Arg325=)
c.1009C>A (p.Arg337=)
c.751C>A (p.Arg251=)
c.910C>A (p.Arg304=)
15g.38351302C=CA2170812655SPRED1c.973C= (p.Arg325=)
c.1009C= (p.Arg337=)
c.751C= (p.Arg251=)
c.910C= (p.Arg304=)
15g.38351302C>GCA391933662SPRED1c.973C>G (p.Arg325Gly)
c.1009C>G (p.Arg337Gly)
c.751C>G (p.Arg251Gly)
c.910C>G (p.Arg304Gly)
ClinVar dbSNP
15g.38351302C>TCA16043687SPRED1c.973C>T (p.Arg325Ter)
c.1009C>T (p.Arg337Ter)
c.751C>T (p.Arg251Ter)
c.910C>T (p.Arg304Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351303G>ACA391933663SPRED1c.974G>A (p.Arg325Gln)
c.1010G>A (p.Arg337Gln)
c.752G>A (p.Arg251Gln)
c.911G>A (p.Arg304Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.38351303G>CCA391933664SPRED1c.974G>C (p.Arg325Pro)
c.1010G>C (p.Arg337Pro)
c.752G>C (p.Arg251Pro)
c.911G>C (p.Arg304Pro)
15g.38351303G=CA2170812656SPRED1c.974G= (p.Arg325=)
c.1010G= (p.Arg337=)
c.752G= (p.Arg251=)
c.911G= (p.Arg304=)
15g.38351303G>TCA391933665SPRED1c.974G>T (p.Arg325Leu)
c.1010G>T (p.Arg337Leu)
c.752G>T (p.Arg251Leu)
c.911G>T (p.Arg304Leu)
15g.38351304A=CA2170812657SPRED1c.975A= (p.Arg325=)
c.1011A= (p.Arg337=)
c.753A= (p.Arg251=)
c.912A= (p.Arg304=)
15g.38351304A>CCA490012366SPRED1c.975A>C (p.Arg325=)
c.1011A>C (p.Arg337=)
c.753A>C (p.Arg251=)
c.912A>C (p.Arg304=)
15g.38351304A>GCA490012364SPRED1c.975A>G (p.Arg325=)
c.1011A>G (p.Arg337=)
c.753A>G (p.Arg251=)
c.912A>G (p.Arg304=)
dbSNP
15g.38351304A>TCA490012365SPRED1c.975A>T (p.Arg325=)
c.1011A>T (p.Arg337=)
c.753A>T (p.Arg251=)
c.912A>T (p.Arg304=)
15g.38351305A=CA2170812658SPRED1c.976A= (p.Arg326=)
c.1012A= (p.Arg338=)
c.754A= (p.Arg252=)
c.913A= (p.Arg305=)
15g.38351305A>CCA490012367SPRED1c.976A>C (p.Arg326=)
c.1012A>C (p.Arg338=)
c.754A>C (p.Arg252=)
c.913A>C (p.Arg305=)
gnomAD v4
15g.38351305A>GCA391933667SPRED1c.976A>G (p.Arg326Gly)
c.1012A>G (p.Arg338Gly)
c.754A>G (p.Arg252Gly)
c.913A>G (p.Arg305Gly)
dbSNP gnomAD v3 gnomAD v4
15g.38351305A>TCA391933666SPRED1c.976A>T (p.Arg326Ter)
c.1012A>T (p.Arg338Ter)
c.754A>T (p.Arg252Ter)
c.913A>T (p.Arg305Ter)
15g.38351306G>ACA391933668SPRED1c.977G>A (p.Arg326Lys)
c.1013G>A (p.Arg338Lys)
c.755G>A (p.Arg252Lys)
c.914G>A (p.Arg305Lys)
15g.38351306G>CCA7470213SPRED1c.977G>C (p.Arg326Thr)
c.1013G>C (p.Arg338Thr)
c.755G>C (p.Arg252Thr)
c.914G>C (p.Arg305Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351306G=CA2170812659SPRED1c.977G= (p.Arg326=)
c.1013G= (p.Arg338=)
c.755G= (p.Arg252=)
c.914G= (p.Arg305=)
15g.38351306G>TCA391933669SPRED1c.977G>T (p.Arg326Ile)
c.1013G>T (p.Arg338Ile)
c.755G>T (p.Arg252Ile)
c.914G>T (p.Arg305Ile)
15g.38351307A=CA2170812660SPRED1c.978A= (p.Arg326=)
c.1014A= (p.Arg338=)
c.756A= (p.Arg252=)
c.915A= (p.Arg305=)
15g.38351307A>CCA391933670SPRED1c.978A>C (p.Arg326Ser)
c.1014A>C (p.Arg338Ser)
c.756A>C (p.Arg252Ser)
c.915A>C (p.Arg305Ser)
15g.38351307A>GCA269293454SPRED1c.978A>G (p.Arg326=)
c.1014A>G (p.Arg338=)
c.756A>G (p.Arg252=)
c.915A>G (p.Arg305=)
dbSNP
15g.38351307A>TCA391933671SPRED1c.978A>T (p.Arg326Ser)
c.1014A>T (p.Arg338Ser)
c.756A>T (p.Arg252Ser)
c.915A>T (p.Arg305Ser)
15g.38351309_38351310delCA2627716207SPRED1c.980_981del (p.Lys327ArgfsTer4)
c.1016_1017del (p.Lys339ArgfsTer4)
c.758_759del (p.Lys253ArgfsTer4)
c.917_918del (p.Lys306ArgfsTer4)
gnomAD v4
15g.38351308A>CCA391933672SPRED1c.979A>C (p.Lys327Gln)
c.1015A>C (p.Lys339Gln)
c.757A>C (p.Lys253Gln)
c.916A>C (p.Lys306Gln)
15g.38351308A>GCA391933673SPRED1c.979A>G (p.Lys327Glu)
c.1015A>G (p.Lys339Glu)
c.757A>G (p.Lys253Glu)
c.916A>G (p.Lys306Glu)
15g.38351308A>TCA391933674SPRED1c.979A>T (p.Lys327Ter)
c.1015A>T (p.Lys339Ter)
c.757A>T (p.Lys253Ter)
c.916A>T (p.Lys306Ter)
15g.38351309A>CCA391933675SPRED1c.980A>C (p.Lys327Thr)
c.1016A>C (p.Lys339Thr)
c.758A>C (p.Lys253Thr)
c.917A>C (p.Lys306Thr)
15g.38351309A>GCA391933676SPRED1c.980A>G (p.Lys327Arg)
c.1016A>G (p.Lys339Arg)
c.758A>G (p.Lys253Arg)
c.917A>G (p.Lys306Arg)
15g.38351309A>TCA391933677SPRED1c.980A>T (p.Lys327Ile)
c.1016A>T (p.Lys339Ile)
c.758A>T (p.Lys253Ile)
c.917A>T (p.Lys306Ile)
15g.38351310A>CCA391933678SPRED1c.981A>C (p.Lys327Asn)
c.1017A>C (p.Lys339Asn)
c.759A>C (p.Lys253Asn)
c.918A>C (p.Lys306Asn)
15g.38351310A>GCA490012374SPRED1c.981A>G (p.Lys327=)
c.1017A>G (p.Lys339=)
c.759A>G (p.Lys253=)
c.918A>G (p.Lys306=)
15g.38351310A>TCA391933679SPRED1c.981A>T (p.Lys327Asn)
c.1017A>T (p.Lys339Asn)
c.759A>T (p.Lys253Asn)
c.918A>T (p.Lys306Asn)
15g.38351311G>ACA391933682SPRED1c.982G>A (p.Glu328Lys)
c.1018G>A (p.Glu340Lys)
c.760G>A (p.Glu254Lys)
c.919G>A (p.Glu307Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.38351311G>CCA391933680SPRED1c.982G>C (p.Glu328Gln)
c.1018G>C (p.Glu340Gln)
c.760G>C (p.Glu254Gln)
c.919G>C (p.Glu307Gln)
15g.38351311G=CA2170812661SPRED1c.982G= (p.Glu328=)
c.1018G= (p.Glu340=)
c.760G= (p.Glu254=)
c.919G= (p.Glu307=)
15g.38351311G>TCA391933681SPRED1c.982G>T (p.Glu328Ter)
c.1018G>T (p.Glu340Ter)
c.760G>T (p.Glu254Ter)
c.919G>T (p.Glu307Ter)
COSMIC
15g.38351312A>CCA391933683SPRED1c.983A>C (p.Glu328Ala)
c.1019A>C (p.Glu340Ala)
c.761A>C (p.Glu254Ala)
c.920A>C (p.Glu307Ala)
15g.38351312A>GCA391933684SPRED1c.983A>G (p.Glu328Gly)
c.1019A>G (p.Glu340Gly)
c.761A>G (p.Glu254Gly)
c.920A>G (p.Glu307Gly)
15g.38351312A>TCA391933685SPRED1c.983A>T (p.Glu328Val)
c.1019A>T (p.Glu340Val)
c.761A>T (p.Glu254Val)
c.920A>T (p.Glu307Val)
15g.38351313G>ACA490012377SPRED1c.984G>A (p.Glu328=)
c.1020G>A (p.Glu340=)
c.762G>A (p.Glu254=)
c.921G>A (p.Glu307=)
ClinVar
15g.38351313G>CCA391933686SPRED1c.984G>C (p.Glu328Asp)
c.1020G>C (p.Glu340Asp)
c.762G>C (p.Glu254Asp)
c.921G>C (p.Glu307Asp)
15g.38351313G>TCA391933687SPRED1c.984G>T (p.Glu328Asp)
c.1020G>T (p.Glu340Asp)
c.762G>T (p.Glu254Asp)
c.921G>T (p.Glu307Asp)
15g.38351314G>ACA269293455SPRED1c.985G>A (p.Asp329Asn)
c.1021G>A (p.Asp341Asn)
c.763G>A (p.Asp255Asn)
c.922G>A (p.Asp308Asn)
dbSNP gnomAD v4
15g.38351314G>CCA7470214SPRED1c.985G>C (p.Asp329His)
c.1021G>C (p.Asp341His)
c.763G>C (p.Asp255His)
c.922G>C (p.Asp308His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351314G=CA2170812662SPRED1c.985G= (p.Asp329=)
c.1021G= (p.Asp341=)
c.763G= (p.Asp255=)
c.922G= (p.Asp308=)
15g.38351314G>TCA391933688SPRED1c.985G>T (p.Asp329Tyr)
c.1021G>T (p.Asp341Tyr)
c.763G>T (p.Asp255Tyr)
c.922G>T (p.Asp308Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351315A=CA2170812663SPRED1c.986A= (p.Asp329=)
c.1022A= (p.Asp341=)
c.764A= (p.Asp255=)
c.923A= (p.Asp308=)
15g.38351315A>CCA391933689SPRED1c.986A>C (p.Asp329Ala)
c.1022A>C (p.Asp341Ala)
c.764A>C (p.Asp255Ala)
c.923A>C (p.Asp308Ala)
15g.38351315A>GCA391933690SPRED1c.986A>G (p.Asp329Gly)
c.1022A>G (p.Asp341Gly)
c.764A>G (p.Asp255Gly)
c.923A>G (p.Asp308Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38351315A>TCA391933691SPRED1c.986A>T (p.Asp329Val)
c.1022A>T (p.Asp341Val)
c.764A>T (p.Asp255Val)
c.923A>T (p.Asp308Val)
15g.38351316T>ACA391933692SPRED1c.987T>A (p.Asp329Glu)
c.1023T>A (p.Asp341Glu)
c.765T>A (p.Asp255Glu)
c.924T>A (p.Asp308Glu)
dbSNP
15g.38351316T>CCA490012379SPRED1c.987T>C (p.Asp329=)
c.1023T>C (p.Asp341=)
c.765T>C (p.Asp255=)
c.924T>C (p.Asp308=)
15g.38351316T>GCA391933693SPRED1c.987T>G (p.Asp329Glu)
c.1023T>G (p.Asp341Glu)
c.765T>G (p.Asp255Glu)
c.924T>G (p.Asp308Glu)
15g.38351316T=CA2170812664SPRED1c.987T= (p.Asp329=)
c.1023T= (p.Asp341=)
c.765T= (p.Asp255=)
c.924T= (p.Asp308=)
15g.38351317G>ACA391933696SPRED1c.988G>A (p.Gly330Ser)
c.1024G>A (p.Gly342Ser)
c.766G>A (p.Gly256Ser)
c.925G>A (p.Gly309Ser)
dbSNP gnomAD v2 gnomAD v4
15g.38351317G>CCA391933695SPRED1c.988G>C (p.Gly330Arg)
c.1024G>C (p.Gly342Arg)
c.766G>C (p.Gly256Arg)
c.925G>C (p.Gly309Arg)
15g.38351317G=CA2170812665SPRED1c.988G= (p.Gly330=)
c.1024G= (p.Gly342=)
c.766G= (p.Gly256=)
c.925G= (p.Gly309=)
15g.38351317G>TCA391933694SPRED1c.988G>T (p.Gly330Cys)
c.1024G>T (p.Gly342Cys)
c.766G>T (p.Gly256Cys)
c.925G>T (p.Gly309Cys)
15g.38351318delCA658761242SPRED1c.989del (p.Gly330ValfsTer?)
c.1025del (p.Gly342ValfsTer?)
c.767del (p.Gly256ValfsTer?)
c.926del (p.Gly309ValfsTer?)
15g.38351317_38351329delinsGGTGAACGTTCTCCA2170812666SPRED1c.988_1000delinsGGTGAACGTTCTC (p.Gly330=)
c.1024_1036delinsGGTGAACGTTCTC (p.Gly342=)
c.766_778delinsGGTGAACGTTCTC (p.Gly256=)
c.925_937delinsGGTGAACGTTCTC (p.Gly309=)
15g.38351318G>ACA391933697SPRED1c.989G>A (p.Gly330Asp)
c.1025G>A (p.Gly342Asp)
c.767G>A (p.Gly256Asp)
c.926G>A (p.Gly309Asp)
ClinVar dbSNP gnomAD v4
15g.38351318G>CCA391933698SPRED1c.989G>C (p.Gly330Ala)
c.1025G>C (p.Gly342Ala)
c.767G>C (p.Gly256Ala)
c.926G>C (p.Gly309Ala)
15g.38351318G=CA2170812668SPRED1c.989G= (p.Gly330=)
c.1025G= (p.Gly342=)
c.767G= (p.Gly256=)
c.926G= (p.Gly309=)
15g.38351318G>TCA391933699SPRED1c.989G>T (p.Gly330Val)
c.1025G>T (p.Gly342Val)
c.767G>T (p.Gly256Val)
c.926G>T (p.Gly309Val)
dbSNP gnomAD v2 gnomAD v4
15g.38351319_38351330delCA2170812667SPRED1c.990_1001del (p.Glu331_Arg334del)
c.1026_1037del (p.Glu343_Arg346del)
c.768_779del (p.Glu257_Arg260del)
c.927_938del (p.Glu310_Arg313del)
dbSNP
15g.38351319T>ACA490012381SPRED1c.990T>A (p.Gly330=)
c.1026T>A (p.Gly342=)
c.768T>A (p.Gly256=)
c.927T>A (p.Gly309=)
15g.38351319T>CCA490012382SPRED1c.990T>C (p.Gly330=)
c.1026T>C (p.Gly342=)
c.768T>C (p.Gly256=)
c.927T>C (p.Gly309=)
15g.38351319T>GCA490012383SPRED1c.990T>G (p.Gly330=)
c.1026T>G (p.Gly342=)
c.768T>G (p.Gly256=)
c.927T>G (p.Gly309=)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.38351319T=CA2170812669SPRED1c.990T= (p.Gly330=)
c.1026T= (p.Gly342=)
c.768T= (p.Gly256=)
c.927T= (p.Gly309=)
15g.38351320G>ACA391933700SPRED1c.991G>A (p.Glu331Lys)
c.1027G>A (p.Glu343Lys)
c.769G>A (p.Glu257Lys)
c.928G>A (p.Glu310Lys)
15g.38351320G>CCA391933701SPRED1c.991G>C (p.Glu331Gln)
c.1027G>C (p.Glu343Gln)
c.769G>C (p.Glu257Gln)
c.928G>C (p.Glu310Gln)
15g.38351320G>TCA391933702SPRED1c.991G>T (p.Glu331Ter)
c.1027G>T (p.Glu343Ter)
c.769G>T (p.Glu257Ter)
c.928G>T (p.Glu310Ter)
15g.38351321A>CCA391933703SPRED1c.992A>C (p.Glu331Ala)
c.1028A>C (p.Glu343Ala)
c.770A>C (p.Glu257Ala)
c.929A>C (p.Glu310Ala)
15g.38351321A>GCA391933704SPRED1c.992A>G (p.Glu331Gly)
c.1028A>G (p.Glu343Gly)
c.770A>G (p.Glu257Gly)
c.929A>G (p.Glu310Gly)
gnomAD v4
15g.38351321A>TCA391933705SPRED1c.992A>T (p.Glu331Val)
c.1028A>T (p.Glu343Val)
c.770A>T (p.Glu257Val)
c.929A>T (p.Glu310Val)
15g.38351322dupCA2695219958SPRED1c.993dup (p.Arg332ThrfsTer12)
c.1029dup (p.Arg344ThrfsTer12)
c.771dup (p.Arg258ThrfsTer12)
c.930dup (p.Arg311ThrfsTer12)
15g.38351322A>CCA391933706SPRED1c.993A>C (p.Glu331Asp)
c.1029A>C (p.Glu343Asp)
c.771A>C (p.Glu257Asp)
c.930A>C (p.Glu310Asp)
15g.38351322A>GCA490012387SPRED1c.993A>G (p.Glu331=)
c.1029A>G (p.Glu343=)
c.771A>G (p.Glu257=)
c.930A>G (p.Glu310=)
ClinVar
15g.38351322A>TCA391933707SPRED1c.993A>T (p.Glu331Asp)
c.1029A>T (p.Glu343Asp)
c.771A>T (p.Glu257Asp)
c.930A>T (p.Glu310Asp)
15g.38351323C>ACA391933708SPRED1c.994C>A (p.Arg332Ser)
c.1030C>A (p.Arg344Ser)
c.772C>A (p.Arg258Ser)
c.931C>A (p.Arg311Ser)
15g.38351323C=CA2170812670SPRED1c.994C= (p.Arg332=)
c.1030C= (p.Arg344=)
c.772C= (p.Arg258=)
c.931C= (p.Arg311=)
15g.38351323C>GCA391933710SPRED1c.994C>G (p.Arg332Gly)
c.1030C>G (p.Arg344Gly)
c.772C>G (p.Arg258Gly)
c.931C>G (p.Arg311Gly)
15g.38351323C>TCA7470215SPRED1c.994C>T (p.Arg332Cys)
c.1030C>T (p.Arg344Cys)
c.772C>T (p.Arg258Cys)
c.931C>T (p.Arg311Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351324G>ACA7470216SPRED1c.995G>A (p.Arg332His)
c.1031G>A (p.Arg344His)
c.773G>A (p.Arg258His)
c.932G>A (p.Arg311His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351324G>CCA391933716SPRED1c.995G>C (p.Arg332Pro)
c.1031G>C (p.Arg344Pro)
c.773G>C (p.Arg258Pro)
c.932G>C (p.Arg311Pro)
15g.38351324G=CA2170812671SPRED1c.995G= (p.Arg332=)
c.1031G= (p.Arg344=)
c.773G= (p.Arg258=)
c.932G= (p.Arg311=)
15g.38351324G>TCA391933713SPRED1c.995G>T (p.Arg332Leu)
c.1031G>T (p.Arg344Leu)
c.773G>T (p.Arg258Leu)
c.932G>T (p.Arg311Leu)
15g.38351325T>ACA490012391SPRED1c.996T>A (p.Arg332=)
c.1032T>A (p.Arg344=)
c.774T>A (p.Arg258=)
c.933T>A (p.Arg311=)
15g.38351325T>CCA490012392SPRED1c.996T>C (p.Arg332=)
c.1032T>C (p.Arg344=)
c.774T>C (p.Arg258=)
c.933T>C (p.Arg311=)
15g.38351325T>GCA490012393SPRED1c.996T>G (p.Arg332=)
c.1032T>G (p.Arg344=)
c.774T>G (p.Arg258=)
c.933T>G (p.Arg311=)
15g.38351326T>ACA391933718SPRED1c.997T>A (p.Ser333Thr)
c.1033T>A (p.Ser345Thr)
c.775T>A (p.Ser259Thr)
c.934T>A (p.Ser312Thr)
15g.38351326T>CCA391933719SPRED1c.997T>C (p.Ser333Pro)
c.1033T>C (p.Ser345Pro)
c.775T>C (p.Ser259Pro)
c.934T>C (p.Ser312Pro)
15g.38351326T>GCA391933720SPRED1c.997T>G (p.Ser333Ala)
c.1033T>G (p.Ser345Ala)
c.775T>G (p.Ser259Ala)
c.934T>G (p.Ser312Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38351326T=CA2170812672SPRED1c.997T= (p.Ser333=)
c.1033T= (p.Ser345=)
c.775T= (p.Ser259=)
c.934T= (p.Ser312=)
15g.38351327C>ACA391933722SPRED1c.998C>A (p.Ser333Tyr)
c.1034C>A (p.Ser345Tyr)
c.776C>A (p.Ser259Tyr)
c.935C>A (p.Ser312Tyr)
15g.38351327C>GCA391933724SPRED1c.998C>G (p.Ser333Cys)
c.1034C>G (p.Ser345Cys)
c.776C>G (p.Ser259Cys)
c.935C>G (p.Ser312Cys)
15g.38351327C>TCA391933725SPRED1c.998C>T (p.Ser333Phe)
c.1034C>T (p.Ser345Phe)
c.776C>T (p.Ser259Phe)
c.935C>T (p.Ser312Phe)
15g.38351328T>ACA490012399SPRED1c.999T>A (p.Ser333=)
c.1035T>A (p.Ser345=)
c.777T>A (p.Ser259=)
c.936T>A (p.Ser312=)
15g.38351328T>CCA490012400SPRED1c.999T>C (p.Ser333=)
c.1035T>C (p.Ser345=)
c.777T>C (p.Ser259=)
c.936T>C (p.Ser312=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351328T>GCA490012402SPRED1c.999T>G (p.Ser333=)
c.1035T>G (p.Ser345=)
c.777T>G (p.Ser259=)
c.936T>G (p.Ser312=)
15g.38351328T=CA2170812673SPRED1c.999T= (p.Ser333=)
c.1035T= (p.Ser345=)
c.777T= (p.Ser259=)
c.936T= (p.Ser312=)
15g.38351329C>ACA391933727SPRED1c.1000C>A (p.Arg334Ser)
c.1036C>A (p.Arg346Ser)
c.778C>A (p.Arg260Ser)
c.937C>A (p.Arg313Ser)
15g.38351329C=CA2170812674SPRED1c.1000C= (p.Arg334=)
c.1036C= (p.Arg346=)
c.778C= (p.Arg260=)
c.937C= (p.Arg313=)
15g.38351329C>GCA391933729SPRED1c.1000C>G (p.Arg334Gly)
c.1036C>G (p.Arg346Gly)
c.778C>G (p.Arg260Gly)
c.937C>G (p.Arg313Gly)
15g.38351329C>TCA10641669SPRED1c.1000C>T (p.Arg334Cys)
c.1036C>T (p.Arg346Cys)
c.778C>T (p.Arg260Cys)
c.937C>T (p.Arg313Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38351330G>ACA7470217SPRED1c.1001G>A (p.Arg334His)
c.1037G>A (p.Arg346His)
c.779G>A (p.Arg260His)
c.938G>A (p.Arg313His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351330G>CCA391933732SPRED1c.1001G>C (p.Arg334Pro)
c.1037G>C (p.Arg346Pro)
c.779G>C (p.Arg260Pro)
c.938G>C (p.Arg313Pro)
gnomAD v4
15g.38351330G=CA2170812675SPRED1c.1001G= (p.Arg334=)
c.1037G= (p.Arg346=)
c.779G= (p.Arg260=)
c.938G= (p.Arg313=)
15g.38351330G>TCA391933733SPRED1c.1001G>T (p.Arg334Leu)
c.1037G>T (p.Arg346Leu)
c.779G>T (p.Arg260Leu)
c.938G>T (p.Arg313Leu)
dbSNP
15g.38351331C>ACA490012405SPRED1c.1002C>A (p.Arg334=)
c.1038C>A (p.Arg346=)
c.780C>A (p.Arg260=)
c.939C>A (p.Arg313=)
15g.38351331C>GCA490012406SPRED1c.1002C>G (p.Arg334=)
c.1038C>G (p.Arg346=)
c.780C>G (p.Arg260=)
c.939C>G (p.Arg313=)
15g.38351331C>TCA490012407SPRED1c.1002C>T (p.Arg334=)
c.1038C>T (p.Arg346=)
c.780C>T (p.Arg260=)
c.939C>T (p.Arg313=)
15g.38351332delCA2627716208SPRED1c.1003del (p.Cys335AlafsTer?)
c.1039del (p.Cys347AlafsTer?)
c.781del (p.Cys261AlafsTer?)
c.940del (p.Cys314AlafsTer?)
gnomAD v4
15g.38351332T>ACA391933738SPRED1c.1003T>A (p.Cys335Ser)
c.1039T>A (p.Cys347Ser)
c.781T>A (p.Cys261Ser)
c.940T>A (p.Cys314Ser)
15g.38351332T>CCA391933736SPRED1c.1003T>C (p.Cys335Arg)
c.1039T>C (p.Cys347Arg)
c.781T>C (p.Cys261Arg)
c.940T>C (p.Cys314Arg)
15g.38351332T>GCA391933735SPRED1c.1003T>G (p.Cys335Gly)
c.1039T>G (p.Cys347Gly)
c.781T>G (p.Cys261Gly)
c.940T>G (p.Cys314Gly)
15g.38351333G>ACA391933739SPRED1c.1004G>A (p.Cys335Tyr)
c.1040G>A (p.Cys347Tyr)
c.782G>A (p.Cys261Tyr)
c.941G>A (p.Cys314Tyr)
15g.38351333G>CCA391933741SPRED1c.1004G>C (p.Cys335Ser)
c.1040G>C (p.Cys347Ser)
c.782G>C (p.Cys261Ser)
c.941G>C (p.Cys314Ser)
15g.38351333G>TCA391933742SPRED1c.1004G>T (p.Cys335Phe)
c.1040G>T (p.Cys347Phe)
c.782G>T (p.Cys261Phe)
c.941G>T (p.Cys314Phe)
15g.38351334C>ACA391933744SPRED1c.1005C>A (p.Cys335Ter)
c.1041C>A (p.Cys347Ter)
c.783C>A (p.Cys261Ter)
c.942C>A (p.Cys314Ter)
15g.38351334C=CA2170812676SPRED1c.1005C= (p.Cys335=)
c.1041C= (p.Cys347=)
c.783C= (p.Cys261=)
c.942C= (p.Cys314=)
15g.38351334C>GCA391933745SPRED1c.1005C>G (p.Cys335Trp)
c.1041C>G (p.Cys347Trp)
c.783C>G (p.Cys261Trp)
c.942C>G (p.Cys314Trp)
15g.38351334C>TCA7470218SPRED1c.1005C>T (p.Cys335=)
c.1041C>T (p.Cys347=)
c.783C>T (p.Cys261=)
c.942C>T (p.Cys314=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351335G>ACA7470219SPRED1c.1006G>A (p.Val336Ile)
c.1042G>A (p.Val348Ile)
c.784G>A (p.Val262Ile)
c.943G>A (p.Val315Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351335G>CCA391933748SPRED1c.1006G>C (p.Val336Leu)
c.1042G>C (p.Val348Leu)
c.784G>C (p.Val262Leu)
c.943G>C (p.Val315Leu)
15g.38351335G=CA2170812677SPRED1c.1006G= (p.Val336=)
c.1042G= (p.Val348=)
c.784G= (p.Val262=)
c.943G= (p.Val315=)
15g.38351335G>TCA391933750SPRED1c.1006G>T (p.Val336Leu)
c.1042G>T (p.Val348Leu)
c.784G>T (p.Val262Leu)
c.943G>T (p.Val315Leu)
15g.38351336T>ACA391933751SPRED1c.1007T>A (p.Val336Glu)
c.1043T>A (p.Val348Glu)
c.785T>A (p.Val262Glu)
c.944T>A (p.Val315Glu)
15g.38351336T>CCA391933752SPRED1c.1007T>C (p.Val336Ala)
c.1043T>C (p.Val348Ala)
c.785T>C (p.Val262Ala)
c.944T>C (p.Val315Ala)
15g.38351336T>GCA391933753SPRED1c.1007T>G (p.Val336Gly)
c.1043T>G (p.Val348Gly)
c.785T>G (p.Val262Gly)
c.944T>G (p.Val315Gly)
15g.38351337A=CA2170812678SPRED1c.1008A= (p.Val336=)
c.1044A= (p.Val348=)
c.786A= (p.Val262=)
c.945A= (p.Val315=)
15g.38351337A>CCA490012413SPRED1c.1008A>C (p.Val336=)
c.1044A>C (p.Val348=)
c.786A>C (p.Val262=)
c.945A>C (p.Val315=)
15g.38351337A>GCA490012414SPRED1c.1008A>G (p.Val336=)
c.1044A>G (p.Val348=)
c.786A>G (p.Val262=)
c.945A>G (p.Val315=)
ClinVar dbSNP gnomAD v4
15g.38351337A>TCA490012415SPRED1c.1008A>T (p.Val336=)
c.1044A>T (p.Val348=)
c.786A>T (p.Val262=)
c.945A>T (p.Val315=)
15g.38351338T>ACA391933755SPRED1c.1009T>A (p.Tyr337Asn)
c.1045T>A (p.Tyr349Asn)
c.787T>A (p.Tyr263Asn)
c.946T>A (p.Tyr316Asn)
gnomAD v4
15g.38351338T>CCA391933758SPRED1c.1009T>C (p.Tyr337His)
c.1045T>C (p.Tyr349His)
c.787T>C (p.Tyr263His)
c.946T>C (p.Tyr316His)
15g.38351338T>GCA391933757SPRED1c.1009T>G (p.Tyr337Asp)
c.1045T>G (p.Tyr349Asp)
c.787T>G (p.Tyr263Asp)
c.946T>G (p.Tyr316Asp)
15g.38351339A>CCA391933761SPRED1c.1010A>C (p.Tyr337Ser)
c.1046A>C (p.Tyr349Ser)
c.788A>C (p.Tyr263Ser)
c.947A>C (p.Tyr316Ser)
15g.38351339A>GCA391933764SPRED1c.1010A>G (p.Tyr337Cys)
c.1046A>G (p.Tyr349Cys)
c.788A>G (p.Tyr263Cys)
c.947A>G (p.Tyr316Cys)
15g.38351339A>TCA391933762SPRED1c.1010A>T (p.Tyr337Phe)
c.1046A>T (p.Tyr349Phe)
c.788A>T (p.Tyr263Phe)
c.947A>T (p.Tyr316Phe)
15g.38351339_38351340insGGGGGGGGGGGGCA2803806069SPRED1c.1010_1011insGGGGGGGGGGGG (p.Tyr337Ter)
c.1046_1047insGGGGGGGGGGGG (p.Tyr349Ter)
c.788_789insGGGGGGGGGGGG (p.Tyr263Ter)
c.947_948insGGGGGGGGGGGG (p.Tyr316Ter)
15g.38351340C>ACA391933765SPRED1c.1011C>A (p.Tyr337Ter)
c.1047C>A (p.Tyr349Ter)
c.789C>A (p.Tyr263Ter)
c.948C>A (p.Tyr316Ter)
ClinVar dbSNP
15g.38351340C>GCA391933767SPRED1c.1011C>G (p.Tyr337Ter)
c.1047C>G (p.Tyr349Ter)
c.789C>G (p.Tyr263Ter)
c.948C>G (p.Tyr316Ter)
15g.38351340C>TCA490012420SPRED1c.1011C>T (p.Tyr337=)
c.1047C>T (p.Tyr349=)
c.789C>T (p.Tyr263=)
c.948C>T (p.Tyr316=)
ClinVar
15g.38351340_38351341insCTCGCCA2627716209SPRED1c.1011_1012insCTCGC (p.Cys338LeufsTer?)
c.1047_1048insCTCGC (p.Cys350LeufsTer?)
c.789_790insCTCGC (p.Cys264LeufsTer?)
c.948_949insCTCGC (p.Cys317LeufsTer?)
gnomAD v4
15g.38351341T>ACA391933769SPRED1c.1012T>A (p.Cys338Ser)
c.1048T>A (p.Cys350Ser)
c.790T>A (p.Cys264Ser)
c.949T>A (p.Cys317Ser)
15g.38351341T>CCA391933770SPRED1c.1012T>C (p.Cys338Arg)
c.1048T>C (p.Cys350Arg)
c.790T>C (p.Cys264Arg)
c.949T>C (p.Cys317Arg)
15g.38351341T>GCA391933772SPRED1c.1012T>G (p.Cys338Gly)
c.1048T>G (p.Cys350Gly)
c.790T>G (p.Cys264Gly)
c.949T>G (p.Cys317Gly)
15g.38351342G>ACA391933775SPRED1c.1013G>A (p.Cys338Tyr)
c.1049G>A (p.Cys350Tyr)
c.791G>A (p.Cys264Tyr)
c.950G>A (p.Cys317Tyr)
15g.38351342G>CCA391933776SPRED1c.1013G>C (p.Cys338Ser)
c.1049G>C (p.Cys350Ser)
c.791G>C (p.Cys264Ser)
c.950G>C (p.Cys317Ser)
15g.38351342G>TCA391933777SPRED1c.1013G>T (p.Cys338Phe)
c.1049G>T (p.Cys350Phe)
c.791G>T (p.Cys264Phe)
c.950G>T (p.Cys317Phe)
15g.38351343C>ACA391933779SPRED1c.1014C>A (p.Cys338Ter)
c.1050C>A (p.Cys350Ter)
c.792C>A (p.Cys264Ter)
c.951C>A (p.Cys317Ter)
15g.38351343C>GCA391933780SPRED1c.1014C>G (p.Cys338Trp)
c.1050C>G (p.Cys350Trp)
c.792C>G (p.Cys264Trp)
c.951C>G (p.Cys317Trp)
15g.38351343C>TCA490012425SPRED1c.1014C>T (p.Cys338=)
c.1050C>T (p.Cys350=)
c.792C>T (p.Cys264=)
c.951C>T (p.Cys317=)
15g.38351344C>ACA391933782SPRED1c.1015C>A (p.Gln339Lys)
c.1051C>A (p.Gln351Lys)
c.793C>A (p.Gln265Lys)
c.952C>A (p.Gln318Lys)
15g.38351344C=CA2170812679SPRED1c.1015C= (p.Gln339=)
c.1051C= (p.Gln351=)
c.793C= (p.Gln265=)
c.952C= (p.Gln318=)
15g.38351344C>GCA391933784SPRED1c.1015C>G (p.Gln339Glu)
c.1051C>G (p.Gln351Glu)
c.793C>G (p.Gln265Glu)
c.952C>G (p.Gln318Glu)
15g.38351344C>TCA391933783SPRED1c.1015C>T (p.Gln339Ter)
c.1051C>T (p.Gln351Ter)
c.793C>T (p.Gln265Ter)
c.952C>T (p.Gln318Ter)
ClinVar dbSNP
15g.38351344_38351346delCA2627716210SPRED1c.1015_1017del (p.Gln339del)
c.1051_1053del (p.Gln351del)
c.793_795del (p.Gln265del)
c.952_954del (p.Gln318del)
gnomAD v4
15g.38351345A>CCA391933786SPRED1c.1016A>C (p.Gln339Pro)
c.1052A>C (p.Gln351Pro)
c.794A>C (p.Gln265Pro)
c.953A>C (p.Gln318Pro)
15g.38351345A>GCA391933788SPRED1c.1016A>G (p.Gln339Arg)
c.1052A>G (p.Gln351Arg)
c.794A>G (p.Gln265Arg)
c.953A>G (p.Gln318Arg)
15g.38351345A>TCA391933791SPRED1c.1016A>T (p.Gln339Leu)
c.1052A>T (p.Gln351Leu)
c.794A>T (p.Gln265Leu)
c.953A>T (p.Gln318Leu)
15g.38351346G>ACA490012432SPRED1c.1017G>A (p.Gln339=)
c.1053G>A (p.Gln351=)
c.795G>A (p.Gln265=)
c.954G>A (p.Gln318=)
15g.38351346G>CCA391933793SPRED1c.1017G>C (p.Gln339His)
c.1053G>C (p.Gln351His)
c.795G>C (p.Gln265His)
c.954G>C (p.Gln318His)
15g.38351346G>TCA391933795SPRED1c.1017G>T (p.Gln339His)
c.1053G>T (p.Gln351His)
c.795G>T (p.Gln265His)
c.954G>T (p.Gln318His)
15g.38351347G>ACA391933797SPRED1c.1018G>A (p.Glu340Lys)
c.1054G>A (p.Glu352Lys)
c.796G>A (p.Glu266Lys)
c.955G>A (p.Glu319Lys)
15g.38351347G>CCA391933799SPRED1c.1018G>C (p.Glu340Gln)
c.1054G>C (p.Glu352Gln)
c.796G>C (p.Glu266Gln)
c.955G>C (p.Glu319Gln)
15g.38351347G>TCA391933798SPRED1c.1018G>T (p.Glu340Ter)
c.1054G>T (p.Glu352Ter)
c.796G>T (p.Glu266Ter)
c.955G>T (p.Glu319Ter)
15g.38351348A>CCA391933801SPRED1c.1019A>C (p.Glu340Ala)
c.1055A>C (p.Glu352Ala)
c.797A>C (p.Glu266Ala)
c.956A>C (p.Glu319Ala)
15g.38351348A>GCA391933803SPRED1c.1019A>G (p.Glu340Gly)
c.1055A>G (p.Glu352Gly)
c.797A>G (p.Glu266Gly)
c.956A>G (p.Glu319Gly)
15g.38351348A>TCA391933805SPRED1c.1019A>T (p.Glu340Val)
c.1055A>T (p.Glu352Val)
c.797A>T (p.Glu266Val)
c.956A>T (p.Glu319Val)
15g.38351349A>CCA391933806SPRED1c.1020A>C (p.Glu340Asp)
c.1056A>C (p.Glu352Asp)
c.798A>C (p.Glu266Asp)
c.957A>C (p.Glu319Asp)
15g.38351349A>GCA490012440SPRED1c.1020A>G (p.Glu340=)
c.1056A>G (p.Glu352=)
c.798A>G (p.Glu266=)
c.957A>G (p.Glu319=)
15g.38351349A>TCA391933808SPRED1c.1020A>T (p.Glu340Asp)
c.1056A>T (p.Glu352Asp)
c.798A>T (p.Glu266Asp)
c.957A>T (p.Glu319Asp)
15g.38351350A>CCA490012441SPRED1c.1021A>C (p.Arg341=)
c.1057A>C (p.Arg353=)
c.799A>C (p.Arg267=)
c.958A>C (p.Arg320=)
15g.38351350A>GCA391933809SPRED1c.1021A>G (p.Arg341Gly)
c.1057A>G (p.Arg353Gly)
c.799A>G (p.Arg267Gly)
c.958A>G (p.Arg320Gly)
gnomAD v4
15g.38351350A>TCA391933811SPRED1c.1021A>T (p.Arg341Trp)
c.1057A>T (p.Arg353Trp)
c.799A>T (p.Arg267Trp)
c.958A>T (p.Arg320Trp)
15g.38351351G>ACA391933812SPRED1c.1022G>A (p.Arg341Lys)
c.1058G>A (p.Arg353Lys)
c.800G>A (p.Arg267Lys)
c.959G>A (p.Arg320Lys)
15g.38351351G>CCA391933814SPRED1c.1022G>C (p.Arg341Thr)
c.1058G>C (p.Arg353Thr)
c.800G>C (p.Arg267Thr)
c.959G>C (p.Arg320Thr)
15g.38351351G>TCA391933815SPRED1c.1022G>T (p.Arg341Met)
c.1058G>T (p.Arg353Met)
c.800G>T (p.Arg267Met)
c.959G>T (p.Arg320Met)
15g.38351352delCA2627716211SPRED1c.1023del (p.Arg341SerfsTer?)
c.1059del (p.Arg353SerfsTer?)
c.801del (p.Arg267SerfsTer?)
c.960del (p.Arg320SerfsTer?)
gnomAD v4
15g.38351352G>ACA490012443SPRED1c.1023G>A (p.Arg341=)
c.1059G>A (p.Arg353=)
c.801G>A (p.Arg267=)
c.960G>A (p.Arg320=)
dbSNP
15g.38351352G>CCA391933816SPRED1c.1023G>C (p.Arg341Ser)
c.1059G>C (p.Arg353Ser)
c.801G>C (p.Arg267Ser)
c.960G>C (p.Arg320Ser)
dbSNP gnomAD v2 gnomAD v4
15g.38351352G=CA2170812680SPRED1c.1023G= (p.Arg341=)
c.1059G= (p.Arg353=)
c.801G= (p.Arg267=)
c.960G= (p.Arg320=)
15g.38351352G>TCA391933817SPRED1c.1023G>T (p.Arg341Ser)
c.1059G>T (p.Arg353Ser)
c.801G>T (p.Arg267Ser)
c.960G>T (p.Arg320Ser)
15g.38351353T>ACA391933818SPRED1c.1024T>A (p.Phe342Ile)
c.1060T>A (p.Phe354Ile)
c.802T>A (p.Phe268Ile)
c.961T>A (p.Phe321Ile)
15g.38351353T>CCA269293456SPRED1c.1024T>C (p.Phe342Leu)
c.1060T>C (p.Phe354Leu)
c.802T>C (p.Phe268Leu)
c.961T>C (p.Phe321Leu)
dbSNP
15g.38351353T>GCA391933820SPRED1c.1024T>G (p.Phe342Val)
c.1060T>G (p.Phe354Val)
c.802T>G (p.Phe268Val)
c.961T>G (p.Phe321Val)
15g.38351353T=CA2170812681SPRED1c.1024T= (p.Phe342=)
c.1060T= (p.Phe354=)
c.802T= (p.Phe268=)
c.961T= (p.Phe321=)
15g.38351354T>ACA391933821SPRED1c.1025T>A (p.Phe342Tyr)
c.1061T>A (p.Phe354Tyr)
c.803T>A (p.Phe268Tyr)
c.962T>A (p.Phe321Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351354T>CCA391933822SPRED1c.1025T>C (p.Phe342Ser)
c.1061T>C (p.Phe354Ser)
c.803T>C (p.Phe268Ser)
c.962T>C (p.Phe321Ser)
15g.38351354T>GCA391933824SPRED1c.1025T>G (p.Phe342Cys)
c.1061T>G (p.Phe354Cys)
c.803T>G (p.Phe268Cys)
c.962T>G (p.Phe321Cys)
15g.38351354T=CA2170812682SPRED1c.1025T= (p.Phe342=)
c.1061T= (p.Phe354=)
c.803T= (p.Phe268=)
c.962T= (p.Phe321=)
15g.38351355T>ACA391933827SPRED1c.1026T>A (p.Phe342Leu)
c.1062T>A (p.Phe354Leu)
c.804T>A (p.Phe268Leu)
c.963T>A (p.Phe321Leu)
15g.38351355T>CCA490012448SPRED1c.1026T>C (p.Phe342=)
c.1062T>C (p.Phe354=)
c.804T>C (p.Phe268=)
c.963T>C (p.Phe321=)
gnomAD v4
15g.38351355T>GCA391933829SPRED1c.1026T>G (p.Phe342Leu)
c.1062T>G (p.Phe354Leu)
c.804T>G (p.Phe268Leu)
c.963T>G (p.Phe321Leu)
15g.38351356A>CCA391933831SPRED1c.1027A>C (p.Asn343His)
c.1063A>C (p.Asn355His)
c.805A>C (p.Asn269His)
c.964A>C (p.Asn322His)
15g.38351356A>GCA391933833SPRED1c.1027A>G (p.Asn343Asp)
c.1063A>G (p.Asn355Asp)
c.805A>G (p.Asn269Asp)
c.964A>G (p.Asn322Asp)
ClinVar gnomAD v4
15g.38351356A>TCA391933834SPRED1c.1027A>T (p.Asn343Tyr)
c.1063A>T (p.Asn355Tyr)
c.805A>T (p.Asn269Tyr)
c.964A>T (p.Asn322Tyr)
15g.38351357A>CCA391933836SPRED1c.1028A>C (p.Asn343Thr)
c.1064A>C (p.Asn355Thr)
c.806A>C (p.Asn269Thr)
c.965A>C (p.Asn322Thr)
15g.38351357A>GCA391933837SPRED1c.1028A>G (p.Asn343Ser)
c.1064A>G (p.Asn355Ser)
c.806A>G (p.Asn269Ser)
c.965A>G (p.Asn322Ser)
COSMIC
15g.38351357A>TCA391933838SPRED1c.1028A>T (p.Asn343Ile)
c.1064A>T (p.Asn355Ile)
c.806A>T (p.Asn269Ile)
c.965A>T (p.Asn322Ile)
15g.38351358T>ACA391933840SPRED1c.1029T>A (p.Asn343Lys)
c.1065T>A (p.Asn355Lys)
c.807T>A (p.Asn269Lys)
c.966T>A (p.Asn322Lys)
15g.38351358T>CCA490012451SPRED1c.1029T>C (p.Asn343=)
c.1065T>C (p.Asn355=)
c.807T>C (p.Asn269=)
c.966T>C (p.Asn322=)
15g.38351358T>GCA391933841SPRED1c.1029T>G (p.Asn343Lys)
c.1065T>G (p.Asn355Lys)
c.807T>G (p.Asn269Lys)
c.966T>G (p.Asn322Lys)
dbSNP gnomAD v3 gnomAD v4
15g.38351358T=CA2170812683SPRED1c.1029T= (p.Asn343=)
c.1065T= (p.Asn355=)
c.807T= (p.Asn269=)
c.966T= (p.Asn322=)
15g.38351359C>ACA391933845SPRED1c.1030C>A (p.His344Asn)
c.1066C>A (p.His356Asn)
c.808C>A (p.His270Asn)
c.967C>A (p.His323Asn)
gnomAD v4
15g.38351359C=CA2170812684SPRED1c.1030C= (p.His344=)
c.1066C= (p.His356=)
c.808C= (p.His270=)
c.967C= (p.His323=)
15g.38351359C>GCA391933842SPRED1c.1030C>G (p.His344Asp)
c.1066C>G (p.His356Asp)
c.808C>G (p.His270Asp)
c.967C>G (p.His323Asp)
dbSNP gnomAD v2 gnomAD v4
15g.38351359C>TCA391933844SPRED1c.1030C>T (p.His344Tyr)
c.1066C>T (p.His356Tyr)
c.808C>T (p.His270Tyr)
c.967C>T (p.His323Tyr)
15g.38351360A=CA2170812685SPRED1c.1031A= (p.His344=)
c.1067A= (p.His356=)
c.809A= (p.His270=)
c.968A= (p.His323=)
15g.38351360A>CCA391933847SPRED1c.1031A>C (p.His344Pro)
c.1067A>C (p.His356Pro)
c.809A>C (p.His270Pro)
c.968A>C (p.His323Pro)
15g.38351360A>GCA7470220SPRED1c.1031A>G (p.His344Arg)
c.1067A>G (p.His356Arg)
c.809A>G (p.His270Arg)
c.968A>G (p.His323Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351360A>TCA391933850SPRED1c.1031A>T (p.His344Leu)
c.1067A>T (p.His356Leu)
c.809A>T (p.His270Leu)
c.968A>T (p.His323Leu)
15g.38351361T>ACA391933851SPRED1c.1032T>A (p.His344Gln)
c.1068T>A (p.His356Gln)
c.810T>A (p.His270Gln)
c.969T>A (p.His323Gln)
dbSNP
15g.38351361T>CCA490012455SPRED1c.1032T>C (p.His344=)
c.1068T>C (p.His356=)
c.810T>C (p.His270=)
c.969T>C (p.His323=)
dbSNP gnomAD v2 gnomAD v4
15g.38351361T>GCA391933852SPRED1c.1032T>G (p.His344Gln)
c.1068T>G (p.His356Gln)
c.810T>G (p.His270Gln)
c.969T>G (p.His323Gln)
15g.38351361T=CA2170812686SPRED1c.1032T= (p.His344=)
c.1068T= (p.His356=)
c.810T= (p.His270=)
c.969T= (p.His323=)
15g.38351362G>ACA391933854SPRED1c.1033G>A (p.Glu345Lys)
c.1069G>A (p.Glu357Lys)
c.811G>A (p.Glu271Lys)
c.970G>A (p.Glu324Lys)
15g.38351362G>CCA391933856SPRED1c.1033G>C (p.Glu345Gln)
c.1069G>C (p.Glu357Gln)
c.811G>C (p.Glu271Gln)
c.970G>C (p.Glu324Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351362G=CA2170812687SPRED1c.1033G= (p.Glu345=)
c.1069G= (p.Glu357=)
c.811G= (p.Glu271=)
c.970G= (p.Glu324=)
15g.38351362G>TCA391933858SPRED1c.1033G>T (p.Glu345Ter)
c.1069G>T (p.Glu357Ter)
c.811G>T (p.Glu271Ter)
c.970G>T (p.Glu324Ter)
15g.38351363A>CCA391933859SPRED1c.1034A>C (p.Glu345Ala)
c.1070A>C (p.Glu357Ala)
c.812A>C (p.Glu271Ala)
c.971A>C (p.Glu324Ala)
15g.38351363A>GCA391933861SPRED1c.1034A>G (p.Glu345Gly)
c.1070A>G (p.Glu357Gly)
c.812A>G (p.Glu271Gly)
c.971A>G (p.Glu324Gly)
15g.38351363A>TCA391933863SPRED1c.1034A>T (p.Glu345Val)
c.1070A>T (p.Glu357Val)
c.812A>T (p.Glu271Val)
c.971A>T (p.Glu324Val)
gnomAD v4
15g.38351364A=CA2170812688SPRED1c.1035A= (p.Glu345=)
c.1071A= (p.Glu357=)
c.813A= (p.Glu271=)
c.972A= (p.Glu324=)
15g.38351364A>CCA391933866SPRED1c.1035A>C (p.Glu345Asp)
c.1071A>C (p.Glu357Asp)
c.813A>C (p.Glu271Asp)
c.972A>C (p.Glu324Asp)
15g.38351364A>GCA7470221SPRED1c.1035A>G (p.Glu345=)
c.1071A>G (p.Glu357=)
c.813A>G (p.Glu271=)
c.972A>G (p.Glu324=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351364A>TCA391933868SPRED1c.1035A>T (p.Glu345Asp)
c.1071A>T (p.Glu357Asp)
c.813A>T (p.Glu271Asp)
c.972A>T (p.Glu324Asp)
15g.38351364_38351376delCA2740097249SPRED1c.1035_1047del (p.Gly350MetfsTer?)
c.1071_1083del (p.Gly362MetfsTer?)
c.813_825del (p.Gly276MetfsTer?)
c.972_984del (p.Gly329MetfsTer?)
ClinVar
15g.38351365G>ACA391933870SPRED1c.1036G>A (p.Glu346Lys)
c.1072G>A (p.Glu358Lys)
c.814G>A (p.Glu272Lys)
c.973G>A (p.Glu325Lys)
15g.38351365G>CCA391933873SPRED1c.1036G>C (p.Glu346Gln)
c.1072G>C (p.Glu358Gln)
c.814G>C (p.Glu272Gln)
c.973G>C (p.Glu325Gln)
gnomAD v4
15g.38351365G>TCA391933872SPRED1c.1036G>T (p.Glu346Ter)
c.1072G>T (p.Glu358Ter)
c.814G>T (p.Glu272Ter)
c.973G>T (p.Glu325Ter)
15g.38351372_38351373insCAGGGGAAAATGTCA2697554335SPRED1c.1043_1044insCAGGGGAAAATGT (p.Gln353Ter)
c.1079_1080insCAGGGGAAAATGT (p.Gln365Ter)
c.821_822insCAGGGGAAAATGT (p.Gln279Ter)
c.980_981insCAGGGGAAAATGT (p.Gln332Ter)
ClinVar
15g.38351373_38351385delCA617561334SPRED1c.1044_1056del (p.Gly350MetfsTer?)
c.1080_1092del (p.Gly362MetfsTer?)
c.822_834del (p.Gly276MetfsTer?)
c.981_993del (p.Gly329MetfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.38351366A=CA2170812689SPRED1c.1037A= (p.Glu346=)
c.1073A= (p.Glu358=)
c.815A= (p.Glu272=)
c.974A= (p.Glu325=)
15g.38351366A>CCA391933875SPRED1c.1037A>C (p.Glu346Ala)
c.1073A>C (p.Glu358Ala)
c.815A>C (p.Glu272Ala)
c.974A>C (p.Glu325Ala)
15g.38351366A>GCA7470222SPRED1c.1037A>G (p.Glu346Gly)
c.1073A>G (p.Glu358Gly)
c.815A>G (p.Glu272Gly)
c.974A>G (p.Glu325Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351366A>TCA391933877SPRED1c.1037A>T (p.Glu346Val)
c.1073A>T (p.Glu358Val)
c.815A>T (p.Glu272Val)
c.974A>T (p.Glu325Val)
15g.38351367A>CCA391933879SPRED1c.1038A>C (p.Glu346Asp)
c.1074A>C (p.Glu358Asp)
c.816A>C (p.Glu272Asp)
c.975A>C (p.Glu325Asp)
15g.38351367A>GCA490012459SPRED1c.1038A>G (p.Glu346=)
c.1074A>G (p.Glu358=)
c.816A>G (p.Glu272=)
c.975A>G (p.Glu325=)
15g.38351367A>TCA391933881SPRED1c.1038A>T (p.Glu346Asp)
c.1074A>T (p.Glu358Asp)
c.816A>T (p.Glu272Asp)
c.975A>T (p.Glu325Asp)
15g.38351368A>CCA391933882SPRED1c.1039A>C (p.Asn347His)
c.1075A>C (p.Asn359His)
c.817A>C (p.Asn273His)
c.976A>C (p.Asn326His)
15g.38351368A>GCA391933884SPRED1c.1039A>G (p.Asn347Asp)
c.1075A>G (p.Asn359Asp)
c.817A>G (p.Asn273Asp)
c.976A>G (p.Asn326Asp)
15g.38351368A>TCA391933885SPRED1c.1039A>T (p.Asn347Tyr)
c.1075A>T (p.Asn359Tyr)
c.817A>T (p.Asn273Tyr)
c.976A>T (p.Asn326Tyr)
15g.38351369A>CCA391933887SPRED1c.1040A>C (p.Asn347Thr)
c.1076A>C (p.Asn359Thr)
c.818A>C (p.Asn273Thr)
c.977A>C (p.Asn326Thr)
15g.38351369A>GCA391933889SPRED1c.1040A>G (p.Asn347Ser)
c.1076A>G (p.Asn359Ser)
c.818A>G (p.Asn273Ser)
c.977A>G (p.Asn326Ser)
15g.38351369A>TCA391933891SPRED1c.1040A>T (p.Asn347Ile)
c.1076A>T (p.Asn359Ile)
c.818A>T (p.Asn273Ile)
c.977A>T (p.Asn326Ile)
15g.38351369_38351370insAAACCAAACACACCCAACACACA2803806070SPRED1c.1040_1041insAAACCAAACACACCCAACACA (p.Asn347delinsLysAsnGlnThrHisProThrHis)
c.1076_1077insAAACCAAACACACCCAACACA (p.Asn359delinsLysAsnGlnThrHisProThrHis)
c.818_819insAAACCAAACACACCCAACACA (p.Asn273delinsLysAsnGlnThrHisProThrHis)
c.977_978insAAACCAAACACACCCAACACA (p.Asn326delinsLysAsnGlnThrHisProThrHis)
15g.38351370T>ACA391933894SPRED1c.1041T>A (p.Asn347Lys)
c.1077T>A (p.Asn359Lys)
c.819T>A (p.Asn273Lys)
c.978T>A (p.Asn326Lys)
15g.38351370T>CCA490012046SPRED1c.1041T>C (p.Asn347=)
c.1077T>C (p.Asn359=)
c.819T>C (p.Asn273=)
c.978T>C (p.Asn326=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351370T>GCA391933893SPRED1c.1041T>G (p.Asn347Lys)
c.1077T>G (p.Asn359Lys)
c.819T>G (p.Asn273Lys)
c.978T>G (p.Asn326Lys)
15g.38351370T=CA2170812690SPRED1c.1041T= (p.Asn347=)
c.1077T= (p.Asn359=)
c.819T= (p.Asn273=)
c.978T= (p.Asn326=)
15g.38351371G>ACA269293457SPRED1c.1042G>A (p.Val348Ile)
c.1078G>A (p.Val360Ile)
c.820G>A (p.Val274Ile)
c.979G>A (p.Val327Ile)
dbSNP gnomAD v4
15g.38351371G>CCA391933895SPRED1c.1042G>C (p.Val348Leu)
c.1078G>C (p.Val360Leu)
c.820G>C (p.Val274Leu)
c.979G>C (p.Val327Leu)
15g.38351371G=CA2170812691SPRED1c.1042G= (p.Val348=)
c.1078G= (p.Val360=)
c.820G= (p.Val274=)
c.979G= (p.Val327=)
15g.38351371G>TCA391933896SPRED1c.1042G>T (p.Val348Phe)
c.1078G>T (p.Val360Phe)
c.820G>T (p.Val274Phe)
c.979G>T (p.Val327Phe)
15g.38351372T>ACA391933898SPRED1c.1043T>A (p.Val348Asp)
c.1079T>A (p.Val360Asp)
c.821T>A (p.Val274Asp)
c.980T>A (p.Val327Asp)
15g.38351372T>CCA391933900SPRED1c.1043T>C (p.Val348Ala)
c.1079T>C (p.Val360Ala)
c.821T>C (p.Val274Ala)
c.980T>C (p.Val327Ala)
15g.38351372T>GCA391933901SPRED1c.1043T>G (p.Val348Gly)
c.1079T>G (p.Val360Gly)
c.821T>G (p.Val274Gly)
c.980T>G (p.Val327Gly)
15g.38351372_38351374delinsTTACA2170812692SPRED1c.1043_1045delinsTTA (p.Val348=)
c.1079_1081delinsTTA (p.Val360=)
c.821_823delinsTTA (p.Val274=)
c.980_982delinsTTA (p.Val327=)
15g.38351372_38351375delinsTTAGCA2170812693SPRED1c.1043_1046delinsTTAG (p.Val348=)
c.1079_1082delinsTTAG (p.Val360=)
c.821_824delinsTTAG (p.Val274=)
c.980_983delinsTTAG (p.Val327=)
15g.38351373T>ACA490012053SPRED1c.1044T>A (p.Val348=)
c.1080T>A (p.Val360=)
c.822T>A (p.Val274=)
c.981T>A (p.Val327=)
dbSNP gnomAD v3 gnomAD v4
15g.38351373T>CCA142266SPRED1c.1044T>C (p.Val348=)
c.1080T>C (p.Val360=)
c.822T>C (p.Val274=)
c.981T>C (p.Val327=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351373T>GCA7470223SPRED1c.1044T>G (p.Val348=)
c.1080T>G (p.Val360=)
c.822T>G (p.Val274=)
c.981T>G (p.Val327=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351373T=CA2170812694SPRED1c.1044T= (p.Val348=)
c.1080T= (p.Val360=)
c.822T= (p.Val274=)
c.981T= (p.Val327=)
15g.38351373_38351374delCA712576530SPRED1c.1044_1045del (p.Arg349GlyfsTer11)
c.1080_1081del (p.Arg361GlyfsTer11)
c.822_823del (p.Arg275GlyfsTer11)
c.981_982del (p.Arg328GlyfsTer11)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351373_38351374delinsCCCA2740097250SPRED1c.1044_1045delinsCC (p.Val348=)
c.1080_1081delinsCC (p.Val360=)
c.822_823delinsCC (p.Val274=)
c.981_982delinsCC (p.Val327=)
ClinVar
15g.38351373_38351374delinsCTCA2697554336SPRED1c.1044_1045delinsCT (p.Arg349Trp)
c.1080_1081delinsCT (p.Arg361Trp)
c.822_823delinsCT (p.Arg275Trp)
c.981_982delinsCT (p.Arg328Trp)
ClinVar
15g.38351373_38351375delinsCCA891843555SPRED1c.1044_1046delinsC (p.Arg349GlyfsTer11)
c.1080_1082delinsC (p.Arg361GlyfsTer11)
c.822_824delinsC (p.Arg275GlyfsTer11)
c.981_983delinsC (p.Arg328GlyfsTer11)
ClinVar dbSNP
15g.38351373_38351375delinsTAGCA2170812696SPRED1c.1044_1046delinsTAG (p.Val348=)
c.1080_1082delinsTAG (p.Val360=)
c.822_824delinsTAG (p.Val274=)
c.981_983delinsTAG (p.Val327=)
15g.38351373_38351386delinsTAGGGGAAAATGTCCA2170812695SPRED1c.1044_1057delinsTAGGGGAAAATGTC (p.Val348=)
c.1080_1093delinsTAGGGGAAAATGTC (p.Val360=)
c.822_835delinsTAGGGGAAAATGTC (p.Val274=)
c.981_994delinsTAGGGGAAAATGTC (p.Val327=)
15g.38351374A=CA2170812697SPRED1c.1045A= (p.Arg349=)
c.1081A= (p.Arg361=)
c.823A= (p.Arg275=)
c.982A= (p.Arg328=)
15g.38351374A>CCA269293458SPRED1c.1045A>C (p.Arg349=)
c.1081A>C (p.Arg361=)
c.823A>C (p.Arg275=)
c.982A>C (p.Arg328=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351374A>GCA391933903SPRED1c.1045A>G (p.Arg349Gly)
c.1081A>G (p.Arg361Gly)
c.823A>G (p.Arg275Gly)
c.982A>G (p.Arg328Gly)
dbSNP gnomAD v2 gnomAD v4
15g.38351374A>TCA7470224SPRED1c.1045A>T (p.Arg349Trp)
c.1081A>T (p.Arg361Trp)
c.823A>T (p.Arg275Trp)
c.982A>T (p.Arg328Trp)
ClinVar dbSNP ExAC gnomAD v2
15g.38351374_38351375delCA658761250SPRED1c.1045_1046del (p.Arg349GlyfsTer11)
c.1081_1082del (p.Arg361GlyfsTer11)
c.823_824del (p.Arg275GlyfsTer11)
c.982_983del (p.Arg328GlyfsTer11)
ClinVar dbSNP
15g.38351377_38351389delCA16042867SPRED1c.1048_1060del (p.Gly350MetfsTer?)
c.1084_1096del (p.Gly362MetfsTer?)
c.826_838del (p.Gly276MetfsTer?)
c.985_997del (p.Gly329MetfsTer?)
ClinVar dbSNP
15g.38351375G>ACA391933907SPRED1c.1046G>A (p.Arg349Lys)
c.1082G>A (p.Arg361Lys)
c.824G>A (p.Arg275Lys)
c.983G>A (p.Arg328Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.38351375G>CCA391933909SPRED1c.1046G>C (p.Arg349Thr)
c.1082G>C (p.Arg361Thr)
c.824G>C (p.Arg275Thr)
c.983G>C (p.Arg328Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351375G=CA2170812698SPRED1c.1046G= (p.Arg349=)
c.1082G= (p.Arg361=)
c.824G= (p.Arg275=)
c.983G= (p.Arg328=)
15g.38351375G>TCA391933906SPRED1c.1046G>T (p.Arg349Met)
c.1082G>T (p.Arg361Met)
c.824G>T (p.Arg275Met)
c.983G>T (p.Arg328Met)
15g.38351377_38351378delCA658761251SPRED1c.1048_1049del (p.Gly350LysfsTer10)
c.1084_1085del (p.Gly362LysfsTer10)
c.826_827del (p.Gly276LysfsTer10)
c.985_986del (p.Gly329LysfsTer10)
15g.38351376G>ACA490012061SPRED1c.1047G>A (p.Arg349=)
c.1083G>A (p.Arg361=)
c.825G>A (p.Arg275=)
c.984G>A (p.Arg328=)
15g.38351376G>CCA391933910SPRED1c.1047G>C (p.Arg349Ser)
c.1083G>C (p.Arg361Ser)
c.825G>C (p.Arg275Ser)
c.984G>C (p.Arg328Ser)
15g.38351376G=CA2170812699SPRED1c.1047G= (p.Arg349=)
c.1083G= (p.Arg361=)
c.825G= (p.Arg275=)
c.984G= (p.Arg328=)
15g.38351376G>TCA391933912SPRED1c.1047G>T (p.Arg349Ser)
c.1083G>T (p.Arg361Ser)
c.825G>T (p.Arg275Ser)
c.984G>T (p.Arg328Ser)
dbSNP gnomAD v3 gnomAD v4
15g.38351377G>ACA391933914SPRED1c.1048G>A (p.Gly350Arg)
c.1084G>A (p.Gly362Arg)
c.826G>A (p.Gly276Arg)
c.985G>A (p.Gly329Arg)
15g.38351377G>CCA391933915SPRED1c.1048G>C (p.Gly350Arg)
c.1084G>C (p.Gly362Arg)
c.826G>C (p.Gly276Arg)
c.985G>C (p.Gly329Arg)
15g.38351377G>TCA391933917SPRED1c.1048G>T (p.Gly350Ter)
c.1084G>T (p.Gly362Ter)
c.826G>T (p.Gly276Ter)
c.985G>T (p.Gly329Ter)
15g.38351378G>ACA391933918SPRED1c.1049G>A (p.Gly350Glu)
c.1085G>A (p.Gly362Glu)
c.827G>A (p.Gly276Glu)
c.986G>A (p.Gly329Glu)
15g.38351378G>CCA391933919SPRED1c.1049G>C (p.Gly350Ala)
c.1085G>C (p.Gly362Ala)
c.827G>C (p.Gly276Ala)
c.986G>C (p.Gly329Ala)
15g.38351378G>TCA391933921SPRED1c.1049G>T (p.Gly350Val)
c.1085G>T (p.Gly362Val)
c.827G>T (p.Gly276Val)
c.986G>T (p.Gly329Val)
15g.38351378_38351379delinsGACA2170812700SPRED1c.1049_1050delinsGA (p.Gly350=)
c.1085_1086delinsGA (p.Gly362=)
c.827_828delinsGA (p.Gly276=)
c.986_987delinsGA (p.Gly329=)
15g.38351379A>CCA490012067SPRED1c.1050A>C (p.Gly350=)
c.1086A>C (p.Gly362=)
c.828A>C (p.Gly276=)
c.987A>C (p.Gly329=)
15g.38351379A>GCA490012069SPRED1c.1050A>G (p.Gly350=)
c.1086A>G (p.Gly362=)
c.828A>G (p.Gly276=)
c.987A>G (p.Gly329=)
15g.38351379A>TCA490012070SPRED1c.1050A>T (p.Gly350=)
c.1086A>T (p.Gly362=)
c.828A>T (p.Gly276=)
c.987A>T (p.Gly329=)
15g.38351382delCA891843556SPRED1c.1053del (p.Lys351AsnfsTer?)
c.1089del (p.Lys363AsnfsTer?)
c.831del (p.Lys277AsnfsTer?)
c.990del (p.Lys330AsnfsTer?)
ClinVar dbSNP
15g.38351380_38351382delCA2627716212SPRED1c.1051_1053del (p.Lys351del)
c.1087_1089del (p.Lys363del)
c.829_831del (p.Lys277del)
c.988_990del (p.Lys330del)
gnomAD v4
15g.38351380A>CCA391933923SPRED1c.1051A>C (p.Lys351Gln)
c.1087A>C (p.Lys363Gln)
c.829A>C (p.Lys277Gln)
c.988A>C (p.Lys330Gln)
15g.38351380A>GCA391933925SPRED1c.1051A>G (p.Lys351Glu)
c.1087A>G (p.Lys363Glu)
c.829A>G (p.Lys277Glu)
c.988A>G (p.Lys330Glu)
15g.38351380A>TCA391933926SPRED1c.1051A>T (p.Lys351Ter)
c.1087A>T (p.Lys363Ter)
c.829A>T (p.Lys277Ter)
c.988A>T (p.Lys330Ter)
15g.38351381A>CCA391933930SPRED1c.1052A>C (p.Lys351Thr)
c.1088A>C (p.Lys363Thr)
c.830A>C (p.Lys277Thr)
c.989A>C (p.Lys330Thr)
15g.38351381A>GCA391933932SPRED1c.1052A>G (p.Lys351Arg)
c.1088A>G (p.Lys363Arg)
c.830A>G (p.Lys277Arg)
c.989A>G (p.Lys330Arg)
15g.38351381A>TCA391933928SPRED1c.1052A>T (p.Lys351Ile)
c.1088A>T (p.Lys363Ile)
c.830A>T (p.Lys277Ile)
c.989A>T (p.Lys330Ile)
15g.38351382A>CCA391933933SPRED1c.1053A>C (p.Lys351Asn)
c.1089A>C (p.Lys363Asn)
c.831A>C (p.Lys277Asn)
c.990A>C (p.Lys330Asn)
COSMIC
15g.38351382A>GCA490012077SPRED1c.1053A>G (p.Lys351=)
c.1089A>G (p.Lys363=)
c.831A>G (p.Lys277=)
c.990A>G (p.Lys330=)
15g.38351382A>TCA391933935SPRED1c.1053A>T (p.Lys351Asn)
c.1089A>T (p.Lys363Asn)
c.831A>T (p.Lys277Asn)
c.990A>T (p.Lys330Asn)
15g.38351383T>ACA391933937SPRED1c.1054T>A (p.Cys352Ser)
c.1090T>A (p.Cys364Ser)
c.832T>A (p.Cys278Ser)
c.991T>A (p.Cys331Ser)
15g.38351383T>CCA391933939SPRED1c.1054T>C (p.Cys352Arg)
c.1090T>C (p.Cys364Arg)
c.832T>C (p.Cys278Arg)
c.991T>C (p.Cys331Arg)
15g.38351383T>GCA391933940SPRED1c.1054T>G (p.Cys352Gly)
c.1090T>G (p.Cys364Gly)
c.832T>G (p.Cys278Gly)
c.991T>G (p.Cys331Gly)
15g.38351384G>ACA391933945SPRED1c.1055G>A (p.Cys352Tyr)
c.1091G>A (p.Cys364Tyr)
c.833G>A (p.Cys278Tyr)
c.992G>A (p.Cys331Tyr)
15g.38351384G>CCA391933943SPRED1c.1055G>C (p.Cys352Ser)
c.1091G>C (p.Cys364Ser)
c.833G>C (p.Cys278Ser)
c.992G>C (p.Cys331Ser)
15g.38351384G>TCA391933944SPRED1c.1055G>T (p.Cys352Phe)
c.1091G>T (p.Cys364Phe)
c.833G>T (p.Cys278Phe)
c.992G>T (p.Cys331Phe)

Number of alleles fetched