Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.16993134G>ACA370394279FGF20c.574C>T (p.Pro192Ser)
c.278C>T
8g.16993134G>CCA4641557FGF20c.574C>G (p.Pro192Ala)
c.278C>G
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993134G=CA1767396136FGF20c.574C= (p.Pro192=)
c.278C=
8g.16993134G>TCA370394280FGF20c.574C>A (p.Pro192Thr)
c.278C>A
8g.16993135T>ACA370394281FGF20c.573A>T (p.Leu191Phe)
c.277A>T
8g.16993135T>CCA459633855FGF20c.573A>G (p.Leu191=)
c.277A>G
8g.16993135T>GCA4641558FGF20c.573A>C (p.Leu191Phe)
c.277A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993135T=CA1767396137FGF20c.573A= (p.Leu191=)
c.277A=
8g.16993136A>CCA370394282FGF20c.572T>G (p.Leu191Ter)
c.276T>G
8g.16993136A>GCA370394283FGF20c.572T>C (p.Leu191Ser)
c.276T>C
8g.16993136A>TCA370394284FGF20c.572T>A (p.Leu191Ter)
c.276T>A
8g.16993137A=CA1767396139FGF20c.571T= (p.Leu191=)
c.275T=
8g.16993137A>CCA370394285FGF20c.571T>G (p.Leu191Val)
c.275T>G
8g.16993137A>GCA4641559FGF20c.571T>C (p.Leu191=)
c.275T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993137A>TCA370394286FGF20c.571T>A (p.Leu191Ile)
c.275T>A
8g.16993138G>ACA172904126FGF20c.570C>T (p.Phe190=)
c.274C>T
dbSNP gnomAD v4
8g.16993138G>CCA370394287FGF20c.570C>G (p.Phe190Leu)
c.274C>G
gnomAD v4
8g.16993138G=CA1767396141FGF20c.570C= (p.Phe190=)
c.274C=
8g.16993138G>TCA370394288FGF20c.570C>A (p.Phe190Leu)
c.274C>A
8g.16993139A>CCA370394289FGF20c.569T>G (p.Phe190Cys)
c.273T>G
8g.16993139A>GCA370394290FGF20c.569T>C (p.Phe190Ser)
c.273T>C
COSMIC
8g.16993139A>TCA370394291FGF20c.569T>A (p.Phe190Tyr)
c.273T>A
8g.16993140A>CCA370394294FGF20c.568T>G (p.Phe190Val)
c.272T>G
8g.16993140A>GCA370394292FGF20c.568T>C (p.Phe190Leu)
c.272T>C
8g.16993140A>TCA370394293FGF20c.568T>A (p.Phe190Ile)
c.272T>A
8g.16993141A=CA1767396144FGF20c.567T= (p.His189=)
c.271T=
8g.16993141A>CCA370394295FGF20c.567T>G (p.His189Gln)
c.271T>G
8g.16993141A>GCA459633857FGF20c.567T>C (p.His189=)
c.271T>C
8g.16993141A>TCA370394296FGF20c.567T>A (p.His189Gln)
c.271T>A
dbSNP gnomAD v2 gnomAD v4
8g.16993142T>ACA370394297FGF20c.566A>T (p.His189Leu)
c.270A>T
8g.16993142T>CCA370394298FGF20c.566A>G (p.His189Arg)
c.270A>G
gnomAD v4
8g.16993142T>GCA370394299FGF20c.566A>C (p.His189Pro)
c.270A>C
8g.16993143G>ACA370394300FGF20c.565C>T (p.His189Tyr)
c.269C>T
8g.16993143G>CCA370394302FGF20c.565C>G (p.His189Asp)
c.269C>G
dbSNP
8g.16993143G=CA1767396147FGF20c.565C= (p.His189=)
c.269C=
8g.16993143G>TCA370394301FGF20c.565C>A (p.His189Asn)
c.269C>A
8g.16993144T>ACA459633860FGF20c.564A>T (p.Thr188=)
c.268A>T
gnomAD v4
8g.16993144T>CCA459633862FGF20c.564A>G (p.Thr188=)
c.268A>G
8g.16993144T>GCA459633863FGF20c.564A>C (p.Thr188=)
c.268A>C
8g.16993145G>ACA370394303FGF20c.563C>T (p.Thr188Ile)
c.267C>T
8g.16993145G>CCA370394304FGF20c.563C>G (p.Thr188Arg)
c.267C>G
8g.16993145G>TCA370394305FGF20c.563C>A (p.Thr188Lys)
c.267C>A
8g.16993146T>ACA370394306FGF20c.562A>T (p.Thr188Ser)
c.266A>T
8g.16993146T>CCA370394307FGF20c.562A>G (p.Thr188Ala)
c.266A>G
dbSNP gnomAD v3 gnomAD v4
8g.16993146T>GCA370394308FGF20c.562A>C (p.Thr188Pro)
c.266A>C
8g.16993146T=CA1767396150FGF20c.562A= (p.Thr188=)
c.266A=
8g.16993147A>CCA370394309FGF20c.561T>G (p.Phe187Leu)
c.265T>G
8g.16993147A>GCA459633864FGF20c.561T>C (p.Phe187=)
c.265T>C
COSMIC
8g.16993147A>TCA370394310FGF20c.561T>A (p.Phe187Leu)
c.265T>A
8g.16993148A>CCA370394311FGF20c.560T>G (p.Phe187Cys)
c.264T>G
8g.16993148A>GCA370394312FGF20c.560T>C (p.Phe187Ser)
c.264T>C
gnomAD v4
8g.16993148A>TCA370394313FGF20c.560T>A (p.Phe187Tyr)
c.264T>A
8g.16993149A>CCA370394316FGF20c.559T>G (p.Phe187Val)
c.263T>G
8g.16993149A>GCA370394314FGF20c.559T>C (p.Phe187Leu)
c.263T>C
8g.16993149A>TCA370394315FGF20c.559T>A (p.Phe187Ile)
c.263T>A
8g.16993150T>ACA370394317FGF20c.558A>T (p.Lys186Asn)
c.262A>T
8g.16993150T>CCA459633869FGF20c.558A>G (p.Lys186=)
c.262A>G
dbSNP COSMIC
8g.16993150T>GCA370394318FGF20c.558A>C (p.Lys186Asn)
c.262A>C
8g.16993150T=CA1767396153FGF20c.558A= (p.Lys186=)
c.262A=
8g.16993151T>ACA370394319FGF20c.557A>T (p.Lys186Ile)
c.261A>T
gnomAD v4
8g.16993151T>CCA370394320FGF20c.557A>G (p.Lys186Arg)
c.261A>G
8g.16993151T>GCA370394321FGF20c.557A>C (p.Lys186Thr)
c.261A>C
8g.16993152T>ACA370394322FGF20c.556A>T (p.Lys186Ter)
c.260A>T
8g.16993152T>CCA370394323FGF20c.556A>G (p.Lys186Glu)
c.260A>G
gnomAD v4
8g.16993152T>GCA370394324FGF20c.556A>C (p.Lys186Gln)
c.260A>C
8g.16993153C>ACA4641561FGF20c.555G>T (p.Gln185His)
c.259G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993153C=CA1767396157FGF20c.555G= (p.Gln185=)
c.259G=
8g.16993153C>GCA4641560FGF20c.555G>C (p.Gln185His)
c.259G>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993153C>TCA459633874FGF20c.555G>A (p.Gln185=)
c.259G>A
8g.16993154T>ACA370394325FGF20c.554A>T (p.Gln185Leu)
c.258A>T
8g.16993154T>CCA370394326FGF20c.554A>G (p.Gln185Arg)
c.258A>G
8g.16993154T>GCA370394327FGF20c.554A>C (p.Gln185Pro)
c.258A>C
8g.16993155G>ACA370394328FGF20c.553C>T (p.Gln185Ter)
c.257C>T
gnomAD v4 COSMIC
8g.16993155G>CCA370394329FGF20c.553C>G (p.Gln185Glu)
c.257C>G
8g.16993155G>TCA370394330FGF20c.553C>A (p.Gln185Lys)
c.257C>A
gnomAD v4
8g.16993156A=CA1767396160FGF20c.552T= (p.His184=)
c.256T=
8g.16993156A>CCA370394331FGF20c.552T>G (p.His184Gln)
c.256T>G
8g.16993156A>GCA459633875FGF20c.552T>C (p.His184=)
c.256T>C
dbSNP gnomAD v3 gnomAD v4
8g.16993156A>TCA370394332FGF20c.552T>A (p.His184Gln)
c.256T>A
8g.16993157T>ACA370394333FGF20c.551A>T (p.His184Leu)
c.255A>T
8g.16993157T>CCA370394334FGF20c.551A>G (p.His184Arg)
c.255A>G
dbSNP gnomAD v4
8g.16993157T>GCA370394335FGF20c.551A>C (p.His184Pro)
c.255A>C
8g.16993157T=CA1767396163FGF20c.551A= (p.His184=)
c.255A=
8g.16993158G>ACA370394336FGF20c.550C>T (p.His184Tyr)
c.254C>T
8g.16993158G>CCA370394337FGF20c.550C>G (p.His184Asp)
c.254C>G
8g.16993158G>TCA370394338FGF20c.550C>A (p.His184Asn)
c.254C>A
gnomAD v4
8g.16993159C>ACA4641562FGF20c.549G>T (p.Arg183Ser)
c.253G>T
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993159C=CA1767396167FGF20c.549G= (p.Arg183=)
c.253G=
8g.16993159C>GCA370394339FGF20c.549G>C (p.Arg183Ser)
c.253G>C
8g.16993159C>TCA459633880FGF20c.549G>A (p.Arg183=)
c.253G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.16993160C>ACA370394340FGF20c.548G>T (p.Arg183Met)
c.252G>T
dbSNP
8g.16993160C=CA1767396171FGF20c.548G= (p.Arg183=)
c.252G=
8g.16993160C>GCA370394341FGF20c.548G>C (p.Arg183Thr)
c.252G>C
8g.16993160C>TCA4641563FGF20c.548G>A (p.Arg183Lys)
c.252G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993161T>ACA370394342FGF20c.547A>T (p.Arg183Trp)
c.251A>T
8g.16993161T>CCA4641564FGF20c.547A>G (p.Arg183Gly)
c.251A>G
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993161T>GCA459633881FGF20c.547A>C (p.Arg183=)
c.251A>C
8g.16993161T=CA1767396173FGF20c.547A= (p.Arg183=)
c.251A=
8g.16993162C>ACA370394343FGF20c.546G>T (p.Lys182Asn)
c.250G>T
COSMIC
8g.16993162C=CA1767396177FGF20c.546G= (p.Lys182=)
c.250G=
8g.16993162C>GCA370394344FGF20c.546G>C (p.Lys182Asn)
c.250G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.16993162C>TCA459633883FGF20c.546G>A (p.Lys182=)
c.250G>A
gnomAD v4
8g.16993163T>ACA370394345FGF20c.545A>T (p.Lys182Met)
c.249A>T
8g.16993163T>CCA370394346FGF20c.545A>G (p.Lys182Arg)
c.249A>G
dbSNP gnomAD v2 gnomAD v4
8g.16993163T>GCA370394347FGF20c.545A>C (p.Lys182Thr)
c.249A>C
8g.16993163T=CA1767396181FGF20c.545A= (p.Lys182=)
c.249A=
8g.16993164delCA2686252553FGF20c.545del (p.Lys182ArgfsTer27)
c.249del
gnomAD v4
8g.16993164T>ACA370394348FGF20c.544A>T (p.Lys182Ter)
c.248A>T
8g.16993164T>CCA370394349FGF20c.544A>G (p.Lys182Glu)
c.248A>G
8g.16993164T>GCA370394350FGF20c.544A>C (p.Lys182Gln)
c.248A>C
8g.16993165G>ACA459633885FGF20c.543C>T (p.Ser181=)
c.247C>T
dbSNP COSMIC
8g.16993165G>CCA459633886FGF20c.543C>G (p.Ser181=)
c.247C>G
gnomAD v4
8g.16993165G=CA1767396183FGF20c.543C= (p.Ser181=)
c.247C=
8g.16993165G>TCA4641565FGF20c.543C>A (p.Ser181=)
c.247C>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993166G>ACA370394351FGF20c.542C>T (p.Ser181Phe)
c.246C>T
8g.16993166G>CCA370394352FGF20c.542C>G (p.Ser181Cys)
c.246C>G
COSMIC
8g.16993166G>TCA370394353FGF20c.542C>A (p.Ser181Tyr)
c.246C>A
8g.16993167A=CA1767396188FGF20c.541T= (p.Ser181=)
c.245T=
8g.16993167A>CCA370394354FGF20c.541T>G (p.Ser181Ala)
c.245T>G
8g.16993167A>GCA370394355FGF20c.541T>C (p.Ser181Pro)
c.245T>C
8g.16993167A>TCA172904173FGF20c.541T>A (p.Ser181Thr)
c.245T>A
dbSNP gnomAD v4
8g.16993168C>ACA370394356FGF20c.540G>T (p.Arg180Ser)
c.244G>T
dbSNP
8g.16993168C=CA1767396191FGF20c.540G= (p.Arg180=)
c.244G=
8g.16993168C>GCA172904174FGF20c.540G>C (p.Arg180Ser)
c.244G>C
dbSNP gnomAD v4
8g.16993168C>TCA4641566FGF20c.540G>A (p.Arg180=)
c.244G>A
dbSNP ExAC gnomAD v3 gnomAD v4
8g.16993169C>ACA370394357FGF20c.539G>T (p.Arg180Met)
c.243G>T
8g.16993169C>GCA370394358FGF20c.539G>C (p.Arg180Thr)
c.243G>C
8g.16993169C>TCA370394359FGF20c.539G>A (p.Arg180Lys)
c.243G>A
8g.16993170T>ACA370394360FGF20c.538A>T (p.Arg180Trp)
c.242A>T
8g.16993170T>CCA370394361FGF20c.538A>G (p.Arg180Gly)
c.242A>G
8g.16993170T>GCA459633893FGF20c.538A>C (p.Arg180=)
c.242A>C
8g.16993171G>ACA459633894FGF20c.537C>T (p.Ala179=)
c.241C>T
8g.16993171G>CCA459633895FGF20c.537C>G (p.Ala179=)
c.241C>G
8g.16993171G>TCA459633896FGF20c.537C>A (p.Ala179=)
c.241C>A
8g.16993172G>ACA370394362FGF20c.536C>T (p.Ala179Val)
c.240C>T
8g.16993172G>CCA370394363FGF20c.536C>G (p.Ala179Gly)
c.240C>G
8g.16993172G>TCA370394364FGF20c.536C>A (p.Ala179Asp)
c.240C>A
8g.16993173C>ACA4641568FGF20c.535G>T (p.Ala179Ser)
c.239G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993173C=CA1767396194FGF20c.535G= (p.Ala179=)
c.239G=
8g.16993173C>GCA370394365FGF20c.535G>C (p.Ala179Pro)
c.239G>C
gnomAD v4
8g.16993173C>TCA4641567FGF20c.535G>A (p.Ala179Thr)
c.239G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993174G>ACA4641569FGF20c.534C>T (p.Gly178=)
c.238C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.16993174G>CCA459633899FGF20c.534C>G (p.Gly178=)
c.238C>G
8g.16993174G=CA1767396199FGF20c.534C= (p.Gly178=)
c.238C=
8g.16993174G>TCA459633900FGF20c.534C>A (p.Gly178=)
c.238C>A
dbSNP gnomAD v4
8g.16993175C>ACA370394368FGF20c.533G>T (p.Gly178Val)
c.237G>T
8g.16993175C>GCA370394366FGF20c.533G>C (p.Gly178Ala)
c.237G>C
8g.16993175C>TCA370394367FGF20c.533G>A (p.Gly178Asp)
c.237G>A
gnomAD v4
8g.16993176C>ACA370394369FGF20c.532G>T (p.Gly178Cys)
c.236G>T
dbSNP
8g.16993176C>GCA370394370FGF20c.532G>C (p.Gly178Arg)
c.236G>C
8g.16993176C>TCA370394371FGF20c.532G>A (p.Gly178Ser)
c.236G>A
8g.16993177A>CCA370394372FGF20c.531T>G (p.Asp177Glu)
c.235T>G
8g.16993177A>GCA459633905FGF20c.531T>C (p.Asp177=)
c.235T>C
gnomAD v4
8g.16993177A>TCA370394373FGF20c.531T>A (p.Asp177Glu)
c.235T>A
8g.16993178T>ACA370394374FGF20c.530A>T (p.Asp177Val)
c.234A>T
8g.16993178T>CCA370394375FGF20c.530A>G (p.Asp177Gly)
c.234A>G
COSMIC
8g.16993178T>GCA370394376FGF20c.530A>C (p.Asp177Ala)
c.234A>C
8g.16993179C>ACA370394377FGF20c.529G>T (p.Asp177Tyr)
c.233G>T
8g.16993179C=CA1767396204FGF20c.529G= (p.Asp177=)
c.233G=
8g.16993179C>GCA370394378FGF20c.529G>C (p.Asp177His)
c.233G>C
dbSNP gnomAD v3 gnomAD v4
8g.16993179C>TCA370394379FGF20c.529G>A (p.Asp177Asn)
c.233G>A
8g.16993180T>ACA370394380FGF20c.528A>T (p.Arg176Ser)
c.232A>T
8g.16993180T>CCA459633908FGF20c.528A>G (p.Arg176=)
c.232A>G
8g.16993180T>GCA370394381FGF20c.528A>C (p.Arg176Ser)
c.232A>C
8g.16993181C>ACA370394384FGF20c.527G>T (p.Arg176Ile)
c.231G>T
8g.16993181C=CA1767396205FGF20c.527G= (p.Arg176=)
c.231G=
8g.16993181C>GCA370394383FGF20c.527G>C (p.Arg176Thr)
c.231G>C
8g.16993181C>TCA370394382FGF20c.527G>A (p.Arg176Lys)
c.231G>A
dbSNP gnomAD v4 COSMIC
8g.16993182T>ACA370394385FGF20c.526A>T (p.Arg176Ter)
c.230A>T
8g.16993182T>CCA370394386FGF20c.526A>G (p.Arg176Gly)
c.230A>G
8g.16993182T>GCA459633911FGF20c.526A>C (p.Arg176=)
c.230A>C
8g.16993183T>ACA459633912FGF20c.525A>T (p.Pro175=)
c.229A>T
COSMIC
8g.16993183T>CCA459633914FGF20c.525A>G (p.Pro175=)
c.229A>G
8g.16993183T>GCA459633913FGF20c.525A>C (p.Pro175=)
c.229A>C
8g.16993184G>ACA4641571FGF20c.524C>T (p.Pro175Leu)
c.228C>T
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993184G>CCA370394387FGF20c.524C>G (p.Pro175Arg)
c.228C>G
8g.16993184G=CA1767396208FGF20c.524C= (p.Pro175=)
c.228C=
8g.16993184G>TCA4641570FGF20c.524C>A (p.Pro175Gln)
c.228C>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993185G>ACA370394388FGF20c.523C>T (p.Pro175Ser)
c.227C>T
COSMIC
8g.16993185G>CCA4641572FGF20c.523C>G (p.Pro175Ala)
c.227C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993185G=CA1767396211FGF20c.523C= (p.Pro175=)
c.227C=
8g.16993185G>TCA4641573FGF20c.523C>A (p.Pro175Thr)
c.227C>A
dbSNP ExAC gnomAD v2
8g.16993186A=CA1767396213FGF20c.522T= (p.Thr174=)
c.226T=
8g.16993186A>CCA459633918FGF20c.522T>G (p.Thr174=)
c.226T>G
8g.16993186A>GCA459633919FGF20c.522T>C (p.Thr174=)
c.226T>C
dbSNP
8g.16993186A>TCA459633920FGF20c.522T>A (p.Thr174=)
c.226T>A
dbSNP gnomAD v2 gnomAD v4
8g.16993187G>ACA370394389FGF20c.521C>T (p.Thr174Ile)
c.225C>T
gnomAD v4
8g.16993187G>CCA370394390FGF20c.521C>G (p.Thr174Ser)
c.225C>G
8g.16993187G>TCA370394391FGF20c.521C>A (p.Thr174Asn)
c.225C>A
8g.16993188T>ACA370394392FGF20c.520A>T (p.Thr174Ser)
c.224A>T
gnomAD v4
8g.16993188T>CCA172904188FGF20c.520A>G (p.Thr174Ala)
c.224A>G
dbSNP
8g.16993188T>GCA370394393FGF20c.520A>C (p.Thr174Pro)
c.224A>C
8g.16993188T=CA1767396215FGF20c.520A= (p.Thr174=)
c.224A=
8g.16993189T>ACA459633921FGF20c.519A>T (p.Gly173=)
c.223A>T
8g.16993189T>CCA459633922FGF20c.519A>G (p.Gly173=)
c.223A>G
8g.16993189T>GCA459633923FGF20c.519A>C (p.Gly173=)
c.223A>C
gnomAD v4
8g.16993190C>ACA370394396FGF20c.518G>T (p.Gly173Val)
c.222G>T
gnomAD v4
8g.16993190C>GCA370394395FGF20c.518G>C (p.Gly173Ala)
c.222G>C
8g.16993190C>TCA370394394FGF20c.518G>A (p.Gly173Glu)
c.222G>A
8g.16993191C>ACA370394397FGF20c.517G>T (p.Gly173Ter)
c.221G>T
8g.16993191C=CA1767396218FGF20c.517G= (p.Gly173=)
c.221G=
8g.16993191C>GCA370394398FGF20c.517G>C (p.Gly173Arg)
c.221G>C
8g.16993191C>TCA370394399FGF20c.517G>A (p.Gly173Arg)
c.221G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.16993192G>ACA4641574FGF20c.516C>T (p.Asp172=)
c.220C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.16993192G>CCA370394400FGF20c.516C>G (p.Asp172Glu)
c.220C>G
8g.16993192G=CA1767396220FGF20c.516C= (p.Asp172=)
c.220C=
8g.16993192G>TCA370394401FGF20c.516C>A (p.Asp172Glu)
c.220C>A
8g.16993193T>ACA4641575FGF20c.515A>T (p.Asp172Val)
c.219A>T
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993193T>CCA370394402FGF20c.515A>G (p.Asp172Gly)
c.219A>G
dbSNP gnomAD v2 gnomAD v4
8g.16993193T>GCA370394403FGF20c.515A>C (p.Asp172Ala)
c.219A>C
8g.16993193T=CA1767396222FGF20c.515A= (p.Asp172=)
c.219A=
8g.16993194C>ACA370394404FGF20c.514G>T (p.Asp172Tyr)
c.218G>T
gnomAD v4
8g.16993194C>GCA370394405FGF20c.514G>C (p.Asp172His)
c.218G>C
gnomAD v4
8g.16993194C>TCA370394406FGF20c.514G>A (p.Asp172Asn)
c.218G>A
8g.16993195T>ACA370394407FGF20c.513A>T (p.Lys171Asn)
c.217A>T
8g.16993195T>CCA459633930FGF20c.513A>G (p.Lys171=)
c.217A>G
COSMIC
8g.16993195T>GCA370394408FGF20c.513A>C (p.Lys171Asn)
c.217A>C
dbSNP
8g.16993195T=CA1767396224FGF20c.513A= (p.Lys171=)
c.217A=
8g.16993196T>ACA370394409FGF20c.512A>T (p.Lys171Ile)
c.216A>T
8g.16993196T>CCA4641576FGF20c.512A>G (p.Lys171Arg)
c.216A>G
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993196T>GCA370394410FGF20c.512A>C (p.Lys171Thr)
c.216A>C
8g.16993196T=CA1767396226FGF20c.512A= (p.Lys171=)
c.216A=
8g.16993197T>ACA370394411FGF20c.511A>T (p.Lys171Ter)
c.215A>T
8g.16993197T>CCA370394412FGF20c.511A>G (p.Lys171Glu)
c.215A>G
8g.16993197T>GCA370394413FGF20c.511A>C (p.Lys171Gln)
c.215A>C
8g.16993198G>ACA459633934FGF20c.510C>T (p.Asn170=)
c.214C>T
dbSNP gnomAD v2 gnomAD v4
8g.16993198G>CCA370394414FGF20c.510C>G (p.Asn170Lys)
c.214C>G
8g.16993198G=CA1767396228FGF20c.510C= (p.Asn170=)
c.214C=
8g.16993198G>TCA370394415FGF20c.510C>A (p.Asn170Lys)
c.214C>A
8g.16993199T>ACA370394416FGF20c.509A>T (p.Asn170Ile)
c.213A>T
8g.16993199T>CCA4641577FGF20c.509A>G (p.Asn170Ser)
c.213A>G
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993199T>GCA370394417FGF20c.509A>C (p.Asn170Thr)
c.213A>C
8g.16993199T=CA1767396229FGF20c.509A= (p.Asn170=)
c.213A=
8g.16993200T>ACA370394418FGF20c.508A>T (p.Asn170Tyr)
c.212A>T
8g.16993200T>CCA370394419FGF20c.508A>G (p.Asn170Asp)
c.212A>G
8g.16993200T>GCA370394420FGF20c.508A>C (p.Asn170His)
c.212A>C
8g.16993201A>CCA459633936FGF20c.507T>G (p.Leu169=)
c.211T>G
8g.16993201A>GCA459633937FGF20c.507T>C (p.Leu169=)
c.211T>C
8g.16993201A>TCA459633938FGF20c.507T>A (p.Leu169=)
c.211T>A
8g.16993202A>CCA370394423FGF20c.506T>G (p.Leu169Arg)
c.210T>G
8g.16993202A>GCA370394421FGF20c.506T>C (p.Leu169Pro)
c.210T>C
8g.16993202A>TCA370394422FGF20c.506T>A (p.Leu169His)
c.210T>A
8g.16993203G>ACA370394424FGF20c.505C>T (p.Leu169Phe)
c.209C>T
dbSNP gnomAD v3 gnomAD v4
8g.16993203G>CCA370394426FGF20c.505C>G (p.Leu169Val)
c.209C>G
8g.16993203G=CA1767396231FGF20c.505C= (p.Leu169=)
c.209C=
8g.16993203G>TCA370394425FGF20c.505C>A (p.Leu169Ile)
c.209C>A
8g.16993204T>ACA459633944FGF20c.504A>T (p.Ala168=)
c.208A>T
8g.16993204T>CCA459633942FGF20c.504A>G (p.Ala168=)
c.208A>G
gnomAD v4
8g.16993204T>GCA459633943FGF20c.504A>C (p.Ala168=)
c.208A>C
ClinVar
8g.16993205G>ACA370394427FGF20c.503C>T (p.Ala168Val)
c.207C>T
dbSNP gnomAD v4
8g.16993205G>CCA370394428FGF20c.503C>G (p.Ala168Gly)
c.207C>G
8g.16993205G=CA1767396234FGF20c.503C= (p.Ala168=)
c.207C=
8g.16993205G>TCA370394429FGF20c.503C>A (p.Ala168Glu)
c.207C>A
8g.16993206C>ACA370394430FGF20c.502G>T (p.Ala168Ser)
c.206G>T
8g.16993206C>GCA370394431FGF20c.502G>C (p.Ala168Pro)
c.206G>C
8g.16993206C>TCA370394432FGF20c.502G>A (p.Ala168Thr)
c.206G>A
8g.16993207C>ACA459633946FGF20c.501G>T (p.Val167=)
c.205G>T
8g.16993207C>GCA459633947FGF20c.501G>C (p.Val167=)
c.205G>C
gnomAD v4
8g.16993207C>TCA459633948FGF20c.501G>A (p.Val167=)
c.205G>A
gnomAD v4 COSMIC
8g.16993208A>CCA370394433FGF20c.500T>G (p.Val167Gly)
c.204T>G
8g.16993208A>GCA370394434FGF20c.500T>C (p.Val167Ala)
c.204T>C
8g.16993208A>TCA370394435FGF20c.500T>A (p.Val167Glu)
c.204T>A
8g.16993209C>ACA370394436FGF20c.499G>T (p.Val167Leu)
c.203G>T
8g.16993209C>GCA370394437FGF20c.499G>C (p.Val167Leu)
c.203G>C
8g.16993209C>TCA370394438FGF20c.499G>A (p.Val167Met)
c.203G>A
8g.16993210A>CCA370394439FGF20c.498T>G (p.Phe166Leu)
c.202T>G
8g.16993210A>GCA459633949FGF20c.498T>C (p.Phe166=)
c.202T>C
8g.16993210A>TCA370394440FGF20c.498T>A (p.Phe166Leu)
c.202T>A
8g.16993211A=CA1767396235FGF20c.497T= (p.Phe166=)
c.201T=
8g.16993211A>CCA370394441FGF20c.497T>G (p.Phe166Cys)
c.201T>G
gnomAD v4
8g.16993211A>GCA4641578FGF20c.497T>C (p.Phe166Ser)
c.201T>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993211A>TCA370394442FGF20c.497T>A (p.Phe166Tyr)
c.201T>A
8g.16993212A=CA1767396237FGF20c.496T= (p.Phe166=)
c.200T=
8g.16993212A>CCA370394443FGF20c.496T>G (p.Phe166Val)
c.200T>G
8g.16993212A>GCA370394444FGF20c.496T>C (p.Phe166Leu)
c.200T>C
dbSNP
8g.16993212A>TCA370394445FGF20c.496T>A (p.Phe166Ile)
c.200T>A
8g.16993213A=CA1767396239FGF20c.495T= (p.Tyr165=)
c.199T=
8g.16993213A>CCA370394446FGF20c.495T>G (p.Tyr165Ter)
c.199T>G
8g.16993213A>GCA459634008FGF20c.495T>C (p.Tyr165=)
c.199T>C
dbSNP
8g.16993213A>TCA370394447FGF20c.495T>A (p.Tyr165Ter)
c.199T>A
8g.16993214T>ACA370394448FGF20c.494A>T (p.Tyr165Phe)
c.198A>T
8g.16993214T>CCA370394449FGF20c.494A>G (p.Tyr165Cys)
c.198A>G
8g.16993214T>GCA370394450FGF20c.494A>C (p.Tyr165Ser)
c.198A>C
8g.16993215A>CCA370394453FGF20c.493T>G (p.Tyr165Asp)
c.197T>G
8g.16993215A>GCA370394452FGF20c.493T>C (p.Tyr165His)
c.197T>C
8g.16993215A>TCA370394451FGF20c.493T>A (p.Tyr165Asn)
c.197T>A
8g.16993216C>ACA172904220FGF20c.492G>T (p.Arg164Ser)
c.196G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.16993216C=CA1767396241FGF20c.492G= (p.Arg164=)
c.196G=
8g.16993216C>GCA370394454FGF20c.492G>C (p.Arg164Ser)
c.196G>C
8g.16993216C>TCA4641579FGF20c.492G>A (p.Arg164=)
c.196G>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993217C>ACA370394455FGF20c.491G>T (p.Arg164Met)
c.195G>T
8g.16993217C=CA1767396244FGF20c.491G= (p.Arg164=)
c.195G=
8g.16993217C>GCA370394456FGF20c.491G>C (p.Arg164Thr)
c.195G>C
8g.16993217C>TCA4641580FGF20c.491G>A (p.Arg164Lys)
c.195G>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993218T>ACA370394457FGF20c.490A>T (p.Arg164Trp)
c.194A>T
8g.16993218T>CCA370394458FGF20c.490A>G (p.Arg164Gly)
c.194A>G
8g.16993218T>GCA459634010FGF20c.490A>C (p.Arg164=)
c.194A>C
8g.16993219G>ACA459634011FGF20c.489C>T (p.Arg163=)
c.193C>T
dbSNP gnomAD v4
8g.16993219G>CCA459634012FGF20c.489C>G (p.Arg163=)
c.193C>G
8g.16993219G=CA1767396245FGF20c.489C= (p.Arg163=)
c.193C=
8g.16993219G>TCA459634013FGF20c.489C>A (p.Arg163=)
c.193C>A
8g.16993219_16993220delinsGCCA1767396246FGF20c.488_489delinsGC (p.Arg163=)
c.192_193delinsGC
8g.16993221_16993223delCA2579098527FGF20c.487_489del (p.Arg163del)
c.191_193del
gnomAD v4
8g.16993220delCA1111331336FGF20c.488del (p.Arg163ProfsTer?)
c.192del
dbSNP gnomAD v3 gnomAD v4
8g.16993220C>ACA370394459FGF20c.488G>T (p.Arg163Leu)
c.192G>T
dbSNP
8g.16993220C=CA1767396249FGF20c.488G= (p.Arg163=)
c.192G=
8g.16993220C>GCA370394460FGF20c.488G>C (p.Arg163Pro)
c.192G>C
8g.16993220C>TCA4641581FGF20c.488G>A (p.Arg163His)
c.192G>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993221G>ACA370394461FGF20c.487C>T (p.Arg163Cys)
c.191C>T
dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.16993221G>CCA370394462FGF20c.487C>G (p.Arg163Gly)
c.191C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.16993221G=CA1767396253FGF20c.487C= (p.Arg163=)
c.191C=
8g.16993221G>TCA370394463FGF20c.487C>A (p.Arg163Ser)
c.191C>A
8g.16993222G>ACA459634016FGF20c.486C>T (p.Gly162=)
c.190C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.16993222G>CCA459634017FGF20c.486C>G (p.Gly162=)
c.190C>G
8g.16993222G=CA1767396255FGF20c.486C= (p.Gly162=)
c.190C=
8g.16993222G>TCA459634018FGF20c.486C>A (p.Gly162=)
c.190C>A
8g.16993223C>ACA370394466FGF20c.485G>T (p.Gly162Val)
c.189G>T
8g.16993223C>GCA370394464FGF20c.485G>C (p.Gly162Ala)
c.189G>C
8g.16993223C>TCA370394465FGF20c.485G>A (p.Gly162Asp)
c.189G>A
gnomAD v4
8g.16993223_16993224insACTTATATAACA2686252554FGF20c.484_485insTTATATAAGT (p.Gly162ValfsTer3)
c.188_189insTTATATAAGT
gnomAD v4
8g.16993224C>ACA370394467FGF20c.484G>T (p.Gly162Cys)
c.188G>T
8g.16993224C=CA1767396257FGF20c.484G= (p.Gly162=)
c.188G=
8g.16993224C>GCA370394468FGF20c.484G>C (p.Gly162Arg)
c.188G>C
8g.16993224C>TCA4641582FGF20c.484G>A (p.Gly162Ser)
c.188G>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993225A=CA1767396259FGF20c.483T= (p.Thr161=)
c.187T=
8g.16993225A>CCA459634019FGF20c.483T>G (p.Thr161=)
c.187T>G
gnomAD v4
8g.16993225A>GCA4641583FGF20c.483T>C (p.Thr161=)
c.187T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993225A>TCA459634020FGF20c.483T>A (p.Thr161=)
c.187T>A
dbSNP gnomAD v2
8g.16993225_16993226insTCA2686252555FGF20c.482_483insA (p.Gly162TrpfsTer9)
c.186_187insA
gnomAD v4
8g.16993226G>ACA4641584FGF20c.482C>T (p.Thr161Ile)
c.186C>T
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993226G>CCA370394469FGF20c.482C>G (p.Thr161Ser)
c.186C>G
gnomAD v4
8g.16993226G=CA1767396264FGF20c.482C= (p.Thr161=)
c.186C=
8g.16993226G>TCA4641585FGF20c.482C>A (p.Thr161Asn)
c.186C>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993227T>ACA370394470FGF20c.481A>T (p.Thr161Ser)
c.185A>T
8g.16993227T>CCA370394471FGF20c.481A>G (p.Thr161Ala)
c.185A>G
dbSNP gnomAD v2 gnomAD v4
8g.16993227T>GCA370394472FGF20c.481A>C (p.Thr161Pro)
c.185A>C
8g.16993227T=CA1767396266FGF20c.481A= (p.Thr161=)
c.185A=
8g.16993228G>ACA172904293FGF20c.480C>T (p.Asp160=)
c.184C>T
dbSNP gnomAD v4
8g.16993228G>CCA370394473FGF20c.480C>G (p.Asp160Glu)
c.184C>G
8g.16993228G=CA1767396267FGF20c.480C= (p.Asp160=)
c.184C=
8g.16993228G>TCA370394474FGF20c.480C>A (p.Asp160Glu)
c.184C>A
8g.16993229T>ACA370394476FGF20c.479A>T (p.Asp160Val)
c.183A>T
8g.16993229T>CCA370394477FGF20c.479A>G (p.Asp160Gly)
c.183A>G
gnomAD v4
8g.16993229T>GCA370394475FGF20c.479A>C (p.Asp160Ala)
c.183A>C
8g.16993230C>ACA370394478FGF20c.478G>T (p.Asp160Tyr)
c.182G>T
8g.16993230C>GCA370394480FGF20c.478G>C (p.Asp160His)
c.182G>C
gnomAD v4
8g.16993230C>TCA370394479FGF20c.478G>A (p.Asp160Asn)
c.182G>A
8g.16993231T>ACA459634027FGF20c.477A>T (p.Gly159=)
c.181A>T
8g.16993231T>CCA459634029FGF20c.477A>G (p.Gly159=)
c.181A>G
8g.16993231T>GCA459634028FGF20c.477A>C (p.Gly159=)
c.181A>C
8g.16993232C>ACA370394481FGF20c.476G>T (p.Gly159Val)
c.180G>T
8g.16993232C>GCA370394483FGF20c.476G>C (p.Gly159Ala)
c.180G>C
8g.16993232C>TCA370394482FGF20c.476G>A (p.Gly159Glu)
c.180G>A
gnomAD v4
8g.16993233C>ACA370394484FGF20c.475G>T (p.Gly159Ter)
c.179G>T
8g.16993233C>GCA370394486FGF20c.475G>C (p.Gly159Arg)
c.179G>C
8g.16993233C>TCA370394485FGF20c.475G>A (p.Gly159Arg)
c.179G>A
gnomAD v4
8g.16993234A=CA1767396269FGF20c.474T= (p.His158=)
c.178T=
8g.16993234A>CCA370394487FGF20c.474T>G (p.His158Gln)
c.178T>G
8g.16993234A>GCA459634030FGF20c.474T>C (p.His158=)
c.178T>C
dbSNP gnomAD v4
8g.16993234A>TCA370394488FGF20c.474T>A (p.His158Gln)
c.178T>A

Number of alleles fetched