Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.174571843_174571851dup | CA537975069 | WIPF1 | c.960_968dup (p.Pro323_Ser324insLeuProPro) n.965_973dup c.957_965dup (p.Pro322_Ser323insLeuProPro) c.582_590dup (p.Pro197_Ser198insLeuProPro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571841G>A | CA349340921 | WIPF1 | c.964C>T (p.Pro322Ser) n.969C>T c.961C>T (p.Pro321Ser) c.586C>T (p.Pro196Ser) | |
2 | g.174571841G>C | CA349340924 | WIPF1 | c.964C>G (p.Pro322Ala) n.969C>G c.961C>G (p.Pro321Ala) c.586C>G (p.Pro196Ala) | |
2 | g.174571841G>T | CA349340925 | WIPF1 | c.964C>A (p.Pro322Thr) n.969C>A c.961C>A (p.Pro321Thr) c.586C>A (p.Pro196Thr) | |
2 | g.174571842C>A | CA430228812 | WIPF1 | c.963G>T (p.Leu321=) n.968G>T c.960G>T (p.Leu320=) c.585G>T (p.Leu195=) | |
2 | g.174571842C>G | CA430228813 | WIPF1 | c.963G>C (p.Leu321=) n.968G>C c.960G>C (p.Leu320=) c.585G>C (p.Leu195=) | |
2 | g.174571842C>T | CA430228814 | WIPF1 | c.963G>A (p.Leu321=) n.968G>A c.960G>A (p.Leu320=) c.585G>A (p.Leu195=) | gnomAD v4 |
2 | g.174571843A>C | CA349340930 | WIPF1 | c.962T>G (p.Leu321Arg) n.967T>G c.959T>G (p.Leu320Arg) c.584T>G (p.Leu195Arg) | |
2 | g.174571843A>G | CA349340932 | WIPF1 | c.962T>C (p.Leu321Pro) n.967T>C c.959T>C (p.Leu320Pro) c.584T>C (p.Leu195Pro) | |
2 | g.174571843A>T | CA349340936 | WIPF1 | c.962T>A (p.Leu321Gln) n.967T>A c.959T>A (p.Leu320Gln) c.584T>A (p.Leu195Gln) | |
2 | g.174571844G>A | CA430228817 | WIPF1 | c.961C>T (p.Leu321=) n.966C>T c.958C>T (p.Leu320=) c.583C>T (p.Leu195=) | ClinVar dbSNP |
2 | g.174571844G>C | CA349340938 | WIPF1 | c.961C>G (p.Leu321Val) n.966C>G c.958C>G (p.Leu320Val) c.583C>G (p.Leu195Val) | |
2 | g.174571844G= | CA1308757316 | WIPF1 | c.961C= (p.Leu321=) n.966C= c.958C= (p.Leu320=) c.583C= (p.Leu195=) | |
2 | g.174571844G>T | CA349340940 | WIPF1 | c.961C>A (p.Leu321Met) n.966C>A c.958C>A (p.Leu320Met) c.583C>A (p.Leu195Met) | |
2 | g.174571848_174571850dup | CA2662015690 | WIPF1 | c.959_961dup (p.Pro320_Leu321insPro) n.964_966dup c.956_958dup (p.Pro319_Leu320insPro) c.581_583dup (p.Pro194_Leu195insPro) | gnomAD v4 |
2 | g.174571845A>C | CA430228818 | WIPF1 | c.960T>G (p.Pro320=) n.965T>G c.957T>G (p.Pro319=) c.582T>G (p.Pro194=) | |
2 | g.174571845A>G | CA430228819 | WIPF1 | c.960T>C (p.Pro320=) n.965T>C c.957T>C (p.Pro319=) c.582T>C (p.Pro194=) | |
2 | g.174571845A>T | CA430228820 | WIPF1 | c.960T>A (p.Pro320=) n.965T>A c.957T>A (p.Pro319=) c.582T>A (p.Pro194=) | |
2 | g.174571846G>A | CA349340948 | WIPF1 | c.959C>T (p.Pro320Leu) n.964C>T c.956C>T (p.Pro319Leu) c.581C>T (p.Pro194Leu) | |
2 | g.174571846G>C | CA349340951 | WIPF1 | c.959C>G (p.Pro320Arg) n.964C>G c.956C>G (p.Pro319Arg) c.581C>G (p.Pro194Arg) | |
2 | g.174571846G>T | CA349340953 | WIPF1 | c.959C>A (p.Pro320His) n.964C>A c.956C>A (p.Pro319His) c.581C>A (p.Pro194His) | |
2 | g.174571847G>A | CA349340956 | WIPF1 | c.958C>T (p.Pro320Ser) n.963C>T c.955C>T (p.Pro319Ser) c.580C>T (p.Pro194Ser) | gnomAD v4 |
2 | g.174571847G>C | CA349340965 | WIPF1 | c.958C>G (p.Pro320Ala) n.963C>G c.955C>G (p.Pro319Ala) c.580C>G (p.Pro194Ala) | gnomAD v4 |
2 | g.174571847G>T | CA349340967 | WIPF1 | c.958C>A (p.Pro320Thr) n.963C>A c.955C>A (p.Pro319Thr) c.580C>A (p.Pro194Thr) | gnomAD v4 |
2 | g.174571847_174571848delinsGA | CA1308757317 | WIPF1 | c.957_958delinsTC (p.Pro319=) n.962_963delinsTC c.954_955delinsTC (p.Pro318=) c.579_580delinsTC (p.Pro193=) | |
2 | g.174571848A= | CA1308757318 | WIPF1 | c.957T= (p.Pro319=) n.962T= c.954T= (p.Pro318=) c.579T= (p.Pro193=) | |
2 | g.174571848A>C | CA1974024 | WIPF1 | c.957T>G (p.Pro319=) n.962T>G c.954T>G (p.Pro318=) c.579T>G (p.Pro193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571848A>G | CA430228823 | WIPF1 | c.957T>C (p.Pro319=) n.962T>C c.954T>C (p.Pro318=) c.579T>C (p.Pro193=) | |
2 | g.174571848A>T | CA430228824 | WIPF1 | c.957T>A (p.Pro319=) n.962T>A c.954T>A (p.Pro318=) c.579T>A (p.Pro193=) | |
2 | g.174571848delinsCG | CA916714698 | WIPF1 | c.957delinsCG (p.Pro320AlafsTer10) n.962delinsCG c.954delinsCG (p.Pro319AlafsTer10) c.579delinsCG (p.Pro194AlafsTer10) | dbSNP |
2 | g.174571849G>A | CA349340975 | WIPF1 | c.956C>T (p.Pro319Leu) n.961C>T c.953C>T (p.Pro318Leu) c.578C>T (p.Pro193Leu) | gnomAD v4 |
2 | g.174571849G>C | CA349340972 | WIPF1 | c.956C>G (p.Pro319Arg) n.961C>G c.953C>G (p.Pro318Arg) c.578C>G (p.Pro193Arg) | |
2 | g.174571849G>T | CA349340979 | WIPF1 | c.956C>A (p.Pro319His) n.961C>A c.953C>A (p.Pro318His) c.578C>A (p.Pro193His) | |
2 | g.174571850G>A | CA349340981 | WIPF1 | c.955C>T (p.Pro319Ser) n.960C>T c.952C>T (p.Pro318Ser) c.577C>T (p.Pro193Ser) | |
2 | g.174571850G>C | CA349340985 | WIPF1 | c.955C>G (p.Pro319Ala) n.960C>G c.952C>G (p.Pro318Ala) c.577C>G (p.Pro193Ala) | |
2 | g.174571850G>T | CA349340983 | WIPF1 | c.955C>A (p.Pro319Thr) n.960C>A c.952C>A (p.Pro318Thr) c.577C>A (p.Pro193Thr) | |
2 | g.174571851C>A | CA430228828 | WIPF1 | c.954G>T (p.Pro318=) n.959G>T c.951G>T (p.Pro317=) c.576G>T (p.Pro192=) | gnomAD v4 |
2 | g.174571851C= | CA1308757319 | WIPF1 | c.954G= (p.Pro318=) n.959G= c.951G= (p.Pro317=) c.576G= (p.Pro192=) | |
2 | g.174571851C>G | CA430228829 | WIPF1 | c.954G>C (p.Pro318=) n.959G>C c.951G>C (p.Pro317=) c.576G>C (p.Pro192=) | |
2 | g.174571851C>T | CA60843092 | WIPF1 | c.954G>A (p.Pro318=) n.959G>A c.951G>A (p.Pro317=) c.576G>A (p.Pro192=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571852G>A | CA349340988 | WIPF1 | c.953C>T (p.Pro318Leu) n.958C>T c.950C>T (p.Pro317Leu) c.575C>T (p.Pro192Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.174571852G>C | CA349340990 | WIPF1 | c.953C>G (p.Pro318Arg) n.958C>G c.950C>G (p.Pro317Arg) c.575C>G (p.Pro192Arg) | |
2 | g.174571852G= | CA1308757320 | WIPF1 | c.953C= (p.Pro318=) n.958C= c.950C= (p.Pro317=) c.575C= (p.Pro192=) | |
2 | g.174571852G>T | CA349340993 | WIPF1 | c.953C>A (p.Pro318Gln) n.958C>A c.950C>A (p.Pro317Gln) c.575C>A (p.Pro192Gln) | |
2 | g.174571853G>A | CA349340996 | WIPF1 | c.952C>T (p.Pro318Ser) n.957C>T c.949C>T (p.Pro317Ser) c.574C>T (p.Pro192Ser) | dbSNP |
2 | g.174571853G>C | CA349340999 | WIPF1 | c.952C>G (p.Pro318Ala) n.957C>G c.949C>G (p.Pro317Ala) c.574C>G (p.Pro192Ala) | |
2 | g.174571853G= | CA1308757321 | WIPF1 | c.952C= (p.Pro318=) n.957C= c.949C= (p.Pro317=) c.574C= (p.Pro192=) | |
2 | g.174571853G>T | CA349341001 | WIPF1 | c.952C>A (p.Pro318Thr) n.957C>A c.949C>A (p.Pro317Thr) c.574C>A (p.Pro192Thr) | |
2 | g.174571854C>A | CA430228832 | WIPF1 | c.951G>T (p.Gly317=) n.956G>T c.948G>T (p.Gly316=) c.573G>T (p.Gly191=) | gnomAD v4 |
2 | g.174571854C>G | CA430228833 | WIPF1 | c.951G>C (p.Gly317=) n.956G>C c.948G>C (p.Gly316=) c.573G>C (p.Gly191=) | |
2 | g.174571854C>T | CA430228831 | WIPF1 | c.951G>A (p.Gly317=) n.956G>A c.948G>A (p.Gly316=) c.573G>A (p.Gly191=) | |
2 | g.174571855C>A | CA349341005 | WIPF1 | c.950G>T (p.Gly317Val) n.955G>T c.947G>T (p.Gly316Val) c.572G>T (p.Gly191Val) | |
2 | g.174571855C= | CA1308757322 | WIPF1 | c.950G= (p.Gly317=) n.955G= c.947G= (p.Gly316=) c.572G= (p.Gly191=) | |
2 | g.174571855C>G | CA349341009 | WIPF1 | c.950G>C (p.Gly317Ala) n.955G>C c.947G>C (p.Gly316Ala) c.572G>C (p.Gly191Ala) | ClinVar |
2 | g.174571855C>T | CA349341010 | WIPF1 | c.950G>A (p.Gly317Glu) n.955G>A c.947G>A (p.Gly316Glu) c.572G>A (p.Gly191Glu) | dbSNP |
2 | g.174571856C>A | CA349341011 | WIPF1 | c.949G>T (p.Gly317Trp) n.954G>T c.946G>T (p.Gly316Trp) c.571G>T (p.Gly191Trp) | dbSNP |
2 | g.174571856C= | CA1308757323 | WIPF1 | c.949G= (p.Gly317=) n.954G= c.946G= (p.Gly316=) c.571G= (p.Gly191=) | |
2 | g.174571856C>G | CA1974025 | WIPF1 | c.949G>C (p.Gly317Arg) n.954G>C c.946G>C (p.Gly316Arg) c.571G>C (p.Gly191Arg) | dbSNP ExAC gnomAD v4 |
2 | g.174571856C>T | CA349341012 | WIPF1 | c.949G>A (p.Gly317Arg) n.954G>A c.946G>A (p.Gly316Arg) c.571G>A (p.Gly191Arg) | dbSNP |
2 | g.174571857G>A | CA1974026 | WIPF1 | c.948C>T (p.Pro316=) n.953C>T c.945C>T (p.Pro315=) c.570C>T (p.Pro190=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571857G>C | CA430228837 | WIPF1 | c.948C>G (p.Pro316=) n.953C>G c.945C>G (p.Pro315=) c.570C>G (p.Pro190=) | |
2 | g.174571857G= | CA1308757324 | WIPF1 | c.948C= (p.Pro316=) n.953C= c.945C= (p.Pro315=) c.570C= (p.Pro190=) | |
2 | g.174571857G>T | CA430228838 | WIPF1 | c.948C>A (p.Pro316=) n.953C>A c.945C>A (p.Pro315=) c.570C>A (p.Pro190=) | |
2 | g.174571858G>A | CA349341013 | WIPF1 | c.947C>T (p.Pro316Leu) n.952C>T c.944C>T (p.Pro315Leu) c.569C>T (p.Pro190Leu) | gnomAD v4 |
2 | g.174571858G>C | CA349341016 | WIPF1 | c.947C>G (p.Pro316Arg) n.952C>G c.944C>G (p.Pro315Arg) c.569C>G (p.Pro190Arg) | |
2 | g.174571858G>T | CA349341014 | WIPF1 | c.947C>A (p.Pro316His) n.952C>A c.944C>A (p.Pro315His) c.569C>A (p.Pro190His) | |
2 | g.174571859G>A | CA349341019 | WIPF1 | c.946C>T (p.Pro316Ser) n.951C>T c.943C>T (p.Pro315Ser) c.568C>T (p.Pro190Ser) | |
2 | g.174571859G>C | CA349341021 | WIPF1 | c.946C>G (p.Pro316Ala) n.951C>G c.943C>G (p.Pro315Ala) c.568C>G (p.Pro190Ala) | |
2 | g.174571859G>T | CA349341024 | WIPF1 | c.946C>A (p.Pro316Thr) n.951C>A c.943C>A (p.Pro315Thr) c.568C>A (p.Pro190Thr) | |
2 | g.174571860C>A | CA349341025 | WIPF1 | c.945G>T (p.Arg315Ser) n.950G>T c.942G>T (p.Arg314Ser) c.567G>T (p.Arg189Ser) | |
2 | g.174571860C>G | CA349341026 | WIPF1 | c.945G>C (p.Arg315Ser) n.950G>C c.942G>C (p.Arg314Ser) c.567G>C (p.Arg189Ser) | gnomAD v3 gnomAD v4 |
2 | g.174571860C>T | CA430228842 | WIPF1 | c.945G>A (p.Arg315=) n.950G>A c.942G>A (p.Arg314=) c.567G>A (p.Arg189=) | |
2 | g.174571861C>A | CA349341027 | WIPF1 | c.944G>T (p.Arg315Met) n.949G>T c.941G>T (p.Arg314Met) c.566G>T (p.Arg189Met) | |
2 | g.174571861C= | CA1308757325 | WIPF1 | c.944G= (p.Arg315=) n.949G= c.941G= (p.Arg314=) c.566G= (p.Arg189=) | |
2 | g.174571861C>G | CA349341028 | WIPF1 | c.944G>C (p.Arg315Thr) n.949G>C c.941G>C (p.Arg314Thr) c.566G>C (p.Arg189Thr) | |
2 | g.174571861C>T | CA349341029 | WIPF1 | c.944G>A (p.Arg315Lys) n.949G>A c.941G>A (p.Arg314Lys) c.566G>A (p.Arg189Lys) | dbSNP |
2 | g.174571862T>A | CA349341031 | WIPF1 | c.943A>T (p.Arg315Trp) n.948A>T c.940A>T (p.Arg314Trp) c.565A>T (p.Arg189Trp) | COSMIC |
2 | g.174571862T>C | CA349341032 | WIPF1 | c.943A>G (p.Arg315Gly) n.948A>G c.940A>G (p.Arg314Gly) c.565A>G (p.Arg189Gly) | |
2 | g.174571862T>G | CA430228846 | WIPF1 | c.943A>C (p.Arg315=) n.948A>C c.940A>C (p.Arg314=) c.565A>C (p.Arg189=) | |
2 | g.174571863G>A | CA430228847 | WIPF1 | c.942C>T (p.Ser314=) n.947C>T c.939C>T (p.Ser313=) c.564C>T (p.Ser188=) | |
2 | g.174571863G>C | CA349341036 | WIPF1 | c.942C>G (p.Ser314Arg) n.947C>G c.939C>G (p.Ser313Arg) c.564C>G (p.Ser188Arg) | |
2 | g.174571863G>T | CA349341034 | WIPF1 | c.942C>A (p.Ser314Arg) n.947C>A c.939C>A (p.Ser313Arg) c.564C>A (p.Ser188Arg) | |
2 | g.174571863_174571864insGG | CA1039437880 | WIPF1 | c.942_943insCC (p.Arg315ProfsTer?) n.947_948insCC c.939_940insCC (p.Arg314ProfsTer?) c.564_565insCC (p.Arg189ProfsTer?) | gnomAD v3 gnomAD v4 |
2 | g.174571864C>A | CA349341039 | WIPF1 | c.941G>T (p.Ser314Ile) n.946G>T c.938G>T (p.Ser313Ile) c.563G>T (p.Ser188Ile) | |
2 | g.174571864C= | CA1308757326 | WIPF1 | c.941G= (p.Ser314=) n.946G= c.938G= (p.Ser313=) c.563G= (p.Ser188=) | |
2 | g.174571864C>G | CA349341043 | WIPF1 | c.941G>C (p.Ser314Thr) n.946G>C c.938G>C (p.Ser313Thr) c.563G>C (p.Ser188Thr) | |
2 | g.174571864C>T | CA60843118 | WIPF1 | c.941G>A (p.Ser314Asn) n.946G>A c.938G>A (p.Ser313Asn) c.563G>A (p.Ser188Asn) | ClinVar dbSNP |
2 | g.174571865T>A | CA349341048 | WIPF1 | c.940A>T (p.Ser314Cys) n.945A>T c.937A>T (p.Ser313Cys) c.562A>T (p.Ser188Cys) | |
2 | g.174571865T>C | CA1974027 | WIPF1 | c.940A>G (p.Ser314Gly) n.945A>G c.937A>G (p.Ser313Gly) c.562A>G (p.Ser188Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174571865T>G | CA349341057 | WIPF1 | c.940A>C (p.Ser314Arg) n.945A>C c.937A>C (p.Ser313Arg) c.562A>C (p.Ser188Arg) | |
2 | g.174571865T= | CA1308757327 | WIPF1 | c.940A= (p.Ser314=) n.945A= c.937A= (p.Ser313=) c.562A= (p.Ser188=) | |
2 | g.174571866G>A | CA430228851 | WIPF1 | c.939C>T (p.Pro313=) n.944C>T c.936C>T (p.Pro312=) c.561C>T (p.Pro187=) | gnomAD v4 |
2 | g.174571866G>C | CA430228852 | WIPF1 | c.939C>G (p.Pro313=) n.944C>G c.936C>G (p.Pro312=) c.561C>G (p.Pro187=) | |
2 | g.174571866G>T | CA430228853 | WIPF1 | c.939C>A (p.Pro313=) n.944C>A c.936C>A (p.Pro312=) c.561C>A (p.Pro187=) | |
2 | g.174571866_174571878delinsGGGAGGTGGCGGC | CA1308757328 | WIPF1 | c.927_939delinsGCCGCCACCTCCC (p.Pro309=) n.932_944delinsGCCGCCACCTCCC c.926_936delinsGCCGCCACCTCCC c.549_561delinsGCCGCCACCTCCC (p.Pro183=) | |
2 | g.174571867G>A | CA349341061 | WIPF1 | c.938C>T (p.Pro313Leu) n.943C>T c.935C>T (p.Pro312Leu) c.560C>T (p.Pro187Leu) | gnomAD v4 |
2 | g.174571867G>C | CA349341063 | WIPF1 | c.938C>G (p.Pro313Arg) n.943C>G c.935C>G (p.Pro312Arg) c.560C>G (p.Pro187Arg) | |
2 | g.174571867G>T | CA349341067 | WIPF1 | c.938C>A (p.Pro313His) n.943C>A c.935C>A (p.Pro312His) c.560C>A (p.Pro187His) | |
2 | g.174571875_174571886del | CA1974028 | WIPF1 | c.927_938del (p.Pro310_Pro313del) n.932_943del c.926_935del c.549_560del (p.Pro184_Pro187del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571868G>A | CA1974029 | WIPF1 | c.937C>T (p.Pro313Ser) n.942C>T c.934C>T (p.Pro312Ser) c.559C>T (p.Pro187Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174571868G>C | CA349341073 | WIPF1 | c.937C>G (p.Pro313Ala) n.942C>G c.934C>G (p.Pro312Ala) c.559C>G (p.Pro187Ala) | |
2 | g.174571868G= | CA1308757329 | WIPF1 | c.937C= (p.Pro313=) n.942C= c.934C= (p.Pro312=) c.559C= (p.Pro187=) | |
2 | g.174571868G>T | CA349341074 | WIPF1 | c.937C>A (p.Pro313Thr) n.942C>A c.934C>A (p.Pro312Thr) c.559C>A (p.Pro187Thr) | |
2 | g.174571869A= | CA1308757330 | WIPF1 | c.936T= (p.Pro312=) n.941T= c.933T= (p.Pro311=) c.558T= (p.Pro186=) | |
2 | g.174571869A>C | CA60843140 | WIPF1 | c.936T>G (p.Pro312=) n.941T>G c.933T>G (p.Pro311=) c.558T>G (p.Pro186=) | ClinVar dbSNP gnomAD v4 |
2 | g.174571869A>G | CA430228858 | WIPF1 | c.936T>C (p.Pro312=) n.941T>C c.933T>C (p.Pro311=) c.558T>C (p.Pro186=) | |
2 | g.174571869A>T | CA60843146 | WIPF1 | c.936T>A (p.Pro312=) n.941T>A c.933T>A (p.Pro311=) c.558T>A (p.Pro186=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571870G>A | CA349341083 | WIPF1 | c.935C>T (p.Pro312Leu) n.940C>T c.932C>T (p.Pro311Leu) c.557C>T (p.Pro186Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.174571870G>C | CA349341078 | WIPF1 | c.935C>G (p.Pro312Arg) n.940C>G c.932C>G (p.Pro311Arg) c.557C>G (p.Pro186Arg) | |
2 | g.174571870G= | CA1308757331 | WIPF1 | c.935C= (p.Pro312=) n.940C= c.932C= (p.Pro311=) c.557C= (p.Pro186=) | |
2 | g.174571870G>T | CA349341081 | WIPF1 | c.935C>A (p.Pro312His) n.940C>A c.932C>A (p.Pro311His) c.557C>A (p.Pro186His) | gnomAD v4 |
2 | g.174571871G>A | CA349341086 | WIPF1 | c.934C>T (p.Pro312Ser) n.939C>T c.931C>T (p.Pro311Ser) c.556C>T (p.Pro186Ser) | gnomAD v4 |
2 | g.174571871G>C | CA349341087 | WIPF1 | c.934C>G (p.Pro312Ala) n.939C>G c.931C>G (p.Pro311Ala) c.556C>G (p.Pro186Ala) | |
2 | g.174571871G>T | CA349341088 | WIPF1 | c.934C>A (p.Pro312Thr) n.939C>A c.931C>A (p.Pro311Thr) c.556C>A (p.Pro186Thr) | |
2 | g.174571872T>A | CA430228862 | WIPF1 | c.933A>T (p.Pro311=) n.938A>T c.930A>T (p.Pro310=) c.555A>T (p.Pro185=) | |
2 | g.174571872T>C | CA430228863 | WIPF1 | c.933A>G (p.Pro311=) n.938A>G c.930A>G (p.Pro310=) c.555A>G (p.Pro185=) | |
2 | g.174571872T>G | CA430228865 | WIPF1 | c.933A>C (p.Pro311=) n.938A>C c.930A>C (p.Pro310=) c.555A>C (p.Pro185=) | gnomAD v4 |
2 | g.174571873G>A | CA349341091 | WIPF1 | c.932C>T (p.Pro311Leu) n.937C>T c.929C>T (p.Pro310Leu) c.554C>T (p.Pro185Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.174571873G>C | CA349341092 | WIPF1 | c.932C>G (p.Pro311Arg) n.937C>G c.929C>G (p.Pro310Arg) c.554C>G (p.Pro185Arg) | |
2 | g.174571873G= | CA1308757332 | WIPF1 | c.932C= (p.Pro311=) n.937C= c.929C= (p.Pro310=) c.554C= (p.Pro185=) | |
2 | g.174571873G>T | CA349341095 | WIPF1 | c.932C>A (p.Pro311Gln) n.937C>A c.929C>A (p.Pro310Gln) c.554C>A (p.Pro185Gln) | |
2 | g.174571874G>A | CA349341100 | WIPF1 | c.931C>T (p.Pro311Ser) n.936C>T c.928C>T (p.Pro310Ser) c.553C>T (p.Pro185Ser) | |
2 | g.174571874G>C | CA349341103 | WIPF1 | c.931C>G (p.Pro311Ala) n.936C>G c.928C>G (p.Pro310Ala) c.553C>G (p.Pro185Ala) | |
2 | g.174571874G>T | CA349341105 | WIPF1 | c.931C>A (p.Pro311Thr) n.936C>A c.928C>A (p.Pro310Thr) c.553C>A (p.Pro185Thr) | |
2 | g.174571875C>A | CA349341107 | WIPF1 | c.930G>T (p.Pro310=) n.935G>T c.928-1G>T (n.928-1G>T) c.552G>T (p.Pro184=) | |
2 | g.174571875C= | CA1308757333 | WIPF1 | c.930G= (p.Pro310=) n.935G= c.928-1G= (n.928-1G=) c.552G= (p.Pro184=) | |
2 | g.174571875C>G | CA349341108 | WIPF1 | c.930G>C (p.Pro310=) n.935G>C c.928-1G>C (n.928-1G>C) c.552G>C (p.Pro184=) | |
2 | g.174571875C>T | CA60843152 | WIPF1 | c.930G>A (p.Pro310=) n.935G>A c.928-1G>A (n.928-1G>A) c.552G>A (p.Pro184=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571876G>A | CA60843156 | WIPF1 | c.929C>T (p.Pro310Leu) n.934C>T c.928-2C>T (n.928-2C>T) c.551C>T (p.Pro184Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.174571876G>C | CA349341111 | WIPF1 | c.929C>G (p.Pro310Arg) n.934C>G c.928-2C>G (n.928-2C>G) c.551C>G (p.Pro184Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.174571876G= | CA1308757334 | WIPF1 | c.929C= (p.Pro310=) n.934C= c.928-2C= (n.928-2C=) c.551C= (p.Pro184=) | |
2 | g.174571876G>T | CA349341110 | WIPF1 | c.929C>A (p.Pro310Gln) n.934C>A c.928-2C>A (n.928-2C>A) c.551C>A (p.Pro184Gln) | |
2 | g.174571877G>A | CA349341115 | WIPF1 | c.928C>T (p.Pro310Ser) n.933C>T c.927C>T (p.Arg309=) c.550C>T (p.Pro184Ser) | |
2 | g.174571877G>C | CA349341117 | WIPF1 | c.928C>G (p.Pro310Ala) n.933C>G c.927C>G (p.Arg309=) c.550C>G (p.Pro184Ala) | |
2 | g.174571877G>T | CA349341119 | WIPF1 | c.928C>A (p.Pro310Thr) n.933C>A c.927C>A (p.Arg309=) c.550C>A (p.Pro184Thr) | |
2 | g.174571878C>A | CA349341122 | WIPF1 | c.927G>T (p.Pro309=) n.932G>T c.926G>T (p.Arg309Leu) c.549G>T (p.Pro183=) | |
2 | g.174571878C= | CA1308757335 | WIPF1 | c.927G= (p.Pro309=) n.932G= c.926G= (p.Arg309=) c.549G= (p.Pro183=) | |
2 | g.174571878C>G | CA349341124 | WIPF1 | c.927G>C (p.Pro309=) n.932G>C c.926G>C (p.Arg309Pro) c.549G>C (p.Pro183=) | |
2 | g.174571878C>T | CA349341126 | WIPF1 | c.927G>A (p.Pro309=) n.932G>A c.926G>A (p.Arg309His) c.549G>A (p.Pro183=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.174571879G>A | CA1974030 | WIPF1 | c.926C>T (p.Pro309Leu) n.931C>T c.925C>T (p.Arg309Cys) c.548C>T (p.Pro183Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571879G>C | CA349341128 | WIPF1 | c.926C>G (p.Pro309Arg) n.931C>G c.925C>G (p.Arg309Gly) c.548C>G (p.Pro183Arg) | |
2 | g.174571879G= | CA1308757336 | WIPF1 | c.926C= (p.Pro309=) n.931C= c.925C= (p.Arg309=) c.548C= (p.Pro183=) | |
2 | g.174571879G>T | CA349341127 | WIPF1 | c.926C>A (p.Pro309Gln) n.931C>A c.925C>A (p.Arg309Ser) c.548C>A (p.Pro183Gln) | |
2 | g.174571880G>A | CA349341131 | WIPF1 | c.925C>T (p.Pro309Ser) n.930C>T c.924C>T (p.Leu308=) c.547C>T (p.Pro183Ser) | dbSNP gnomAD v4 |
2 | g.174571880G>C | CA349341132 | WIPF1 | c.925C>G (p.Pro309Ala) n.930C>G c.924C>G (p.Leu308=) c.547C>G (p.Pro183Ala) | gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.174571880G= | CA1308757337 | WIPF1 | c.925C= (p.Pro309=) n.930C= c.924C= (p.Leu308=) c.547C= (p.Pro183=) | |
2 | g.174571880G>T | CA349341135 | WIPF1 | c.925C>A (p.Pro309Thr) n.930C>A c.924C>A (p.Leu308=) c.547C>A (p.Pro183Thr) | |
2 | g.174571881A= | CA1308757338 | WIPF1 | c.924T= (p.Pro308=) n.929T= c.923T= (p.Leu308=) c.546T= (p.Pro182=) | |
2 | g.174571881A>C | CA349341136 | WIPF1 | c.924T>G (p.Pro308=) n.929T>G c.923T>G (p.Leu308Arg) c.546T>G (p.Pro182=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.174571881A>G | CA349341138 | WIPF1 | c.924T>C (p.Pro308=) n.929T>C c.923T>C (p.Leu308Pro) c.546T>C (p.Pro182=) | |
2 | g.174571881A>T | CA349341139 | WIPF1 | c.924T>A (p.Pro308=) n.929T>A c.923T>A (p.Leu308His) c.546T>A (p.Pro182=) | |
2 | g.174571882G>A | CA60843173 | WIPF1 | c.923C>T (p.Pro308Leu) n.928C>T c.922C>T (p.Leu308Phe) c.545C>T (p.Pro182Leu) | dbSNP |
2 | g.174571882G>C | CA349341145 | WIPF1 | c.923C>G (p.Pro308Arg) n.928C>G c.922C>G (p.Leu308Val) c.545C>G (p.Pro182Arg) | |
2 | g.174571882G= | CA1308757339 | WIPF1 | c.923C= (p.Pro308=) n.928C= c.922C= (p.Leu308=) c.545C= (p.Pro182=) | |
2 | g.174571882G>T | CA349341143 | WIPF1 | c.923C>A (p.Pro308His) n.928C>A c.922C>A (p.Leu308Ile) c.545C>A (p.Pro182His) | |
2 | g.174571883G>A | CA349341147 | WIPF1 | c.922C>T (p.Pro308Ser) n.927C>T c.921C>T (p.His307=) c.544C>T (p.Pro182Ser) | |
2 | g.174571883G>C | CA349341148 | WIPF1 | c.922C>G (p.Pro308Ala) n.927C>G c.921C>G (p.His307Gln) c.544C>G (p.Pro182Ala) | gnomAD v4 |
2 | g.174571883G>T | CA349341150 | WIPF1 | c.922C>A (p.Pro308Thr) n.927C>A c.921C>A (p.His307Gln) c.544C>A (p.Pro182Thr) | |
2 | g.174571884T>A | CA349341153 | WIPF1 | c.921A>T (p.Pro307=) n.926A>T c.920A>T (p.His307Leu) c.543A>T (p.Pro181=) | |
2 | g.174571884T>C | CA349341155 | WIPF1 | c.921A>G (p.Pro307=) n.926A>G c.920A>G (p.His307Arg) c.543A>G (p.Pro181=) | |
2 | g.174571884T>G | CA349341158 | WIPF1 | c.921A>C (p.Pro307=) n.926A>C c.920A>C (p.His307Pro) c.543A>C (p.Pro181=) | dbSNP |
2 | g.174571884T= | CA1308757340 | WIPF1 | c.921A= (p.Pro307=) n.926A= c.920A= (p.His307=) c.543A= (p.Pro181=) | |
2 | g.174571885G>A | CA349341159 | WIPF1 | c.920C>T (p.Pro307Leu) n.925C>T c.919C>T (p.His307Tyr) c.542C>T (p.Pro181Leu) | |
2 | g.174571885G>C | CA349341162 | WIPF1 | c.920C>G (p.Pro307Arg) n.925C>G c.919C>G (p.His307Asp) c.542C>G (p.Pro181Arg) | |
2 | g.174571885G>T | CA349341164 | WIPF1 | c.920C>A (p.Pro307Gln) n.925C>A c.919C>A (p.His307Asn) c.542C>A (p.Pro181Gln) | |
2 | g.174571886G>A | CA349341167 | WIPF1 | c.919C>T (p.Pro307Ser) n.924C>T c.918C>T (p.Pro306=) c.541C>T (p.Pro181Ser) | |
2 | g.174571886G>C | CA349341169 | WIPF1 | c.919C>G (p.Pro307Ala) n.924C>G c.918C>G (p.Pro306=) c.541C>G (p.Pro181Ala) | |
2 | g.174571886G>T | CA349341171 | WIPF1 | c.919C>A (p.Pro307Thr) n.924C>A c.918C>A (p.Pro306=) c.541C>A (p.Pro181Thr) | |
2 | g.174571887G>A | CA349341174 | WIPF1 | c.918C>T (p.Ala306=) n.923C>T c.917C>T (p.Pro306Leu) c.540C>T (p.Ala180=) | gnomAD v4 |
2 | g.174571887G>C | CA349341181 | WIPF1 | c.918C>G (p.Ala306=) n.923C>G c.917C>G (p.Pro306Arg) c.540C>G (p.Ala180=) | gnomAD v4 |
2 | g.174571887G>T | CA349341179 | WIPF1 | c.918C>A (p.Ala306=) n.923C>A c.917C>A (p.Pro306His) c.540C>A (p.Ala180=) | |
2 | g.174571888G>A | CA349341184 | WIPF1 | c.917C>T (p.Ala306Val) n.922C>T c.916C>T (p.Pro306Ser) c.539C>T (p.Ala180Val) | |
2 | g.174571888G>C | CA349341185 | WIPF1 | c.917C>G (p.Ala306Gly) n.922C>G c.916C>G (p.Pro306Ala) c.539C>G (p.Ala180Gly) | |
2 | g.174571888G>T | CA349341186 | WIPF1 | c.917C>A (p.Ala306Asp) n.922C>A c.916C>A (p.Pro306Thr) c.539C>A (p.Ala180Asp) | |
2 | g.174571889C>A | CA349341189 | WIPF1 | c.916G>T (p.Ala306Ser) n.921G>T c.915G>T (p.Arg305Ser) c.538G>T (p.Ala180Ser) | dbSNP |
2 | g.174571889C>G | CA349341191 | WIPF1 | c.916G>C (p.Ala306Pro) n.921G>C c.915G>C (p.Arg305Ser) c.538G>C (p.Ala180Pro) | |
2 | g.174571889C>T | CA349341193 | WIPF1 | c.916G>A (p.Ala306Thr) n.921G>A c.915G>A (p.Arg305=) c.538G>A (p.Ala180Thr) | gnomAD v4 |
2 | g.174571890C>A | CA349341195 | WIPF1 | c.915G>T (p.Gln305His) n.920G>T c.914G>T (p.Arg305Met) c.537G>T (p.Gln179His) | |
2 | g.174571890C>G | CA349341197 | WIPF1 | c.915G>C (p.Gln305His) n.920G>C c.914G>C (p.Arg305Thr) c.537G>C (p.Gln179His) | |
2 | g.174571890C>T | CA349341199 | WIPF1 | c.915G>A (p.Gln305=) n.920G>A c.914G>A (p.Arg305Lys) c.537G>A (p.Gln179=) | gnomAD v4 |
2 | g.174571891T>A | CA349341201 | WIPF1 | c.914A>T (p.Gln305Leu) n.919A>T c.913A>T (p.Arg305Trp) c.536A>T (p.Gln179Leu) | |
2 | g.174571891T>C | CA349341203 | WIPF1 | c.914A>G (p.Gln305Arg) n.919A>G c.913A>G (p.Arg305Gly) c.536A>G (p.Gln179Arg) | |
2 | g.174571891T>G | CA349341205 | WIPF1 | c.914A>C (p.Gln305Pro) n.919A>C c.913A>C (p.Arg305=) c.536A>C (p.Gln179Pro) | |
2 | g.174571892G>A | CA349341212 | WIPF1 | c.913C>T (p.Gln305Ter) n.918C>T c.912C>T (p.His304=) c.535C>T (p.Gln179Ter) | |
2 | g.174571892G>C | CA349341208 | WIPF1 | c.913C>G (p.Gln305Glu) n.918C>G c.912C>G (p.His304Gln) c.535C>G (p.Gln179Glu) | |
2 | g.174571892G>T | CA349341210 | WIPF1 | c.913C>A (p.Gln305Lys) n.918C>A c.912C>A (p.His304Gln) c.535C>A (p.Gln179Lys) | |
2 | g.174571893T>A | CA349341214 | WIPF1 | c.912A>T (p.Ser304=) n.917A>T c.911A>T (p.His304Leu) c.534A>T (p.Ser178=) | |
2 | g.174571893T>C | CA1974031 | WIPF1 | c.912A>G (p.Ser304=) n.917A>G c.911A>G (p.His304Arg) c.534A>G (p.Ser178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174571893T>G | CA349341217 | WIPF1 | c.912A>C (p.Ser304=) n.917A>C c.911A>C (p.His304Pro) c.534A>C (p.Ser178=) | |
2 | g.174571893T= | CA1308757341 | WIPF1 | c.912A= (p.Ser304=) n.917A= c.911A= (p.His304=) c.534A= (p.Ser178=) | |
2 | g.174571894G>A | CA349341219 | WIPF1 | c.911C>T (p.Ser304Leu) n.916C>T c.910C>T (p.His304Tyr) c.533C>T (p.Ser178Leu) | |
2 | g.174571894G>C | CA349341221 | WIPF1 | c.911C>G (p.Ser304Ter) n.916C>G c.910C>G (p.His304Asp) c.533C>G (p.Ser178Ter) | |
2 | g.174571894G>T | CA349341223 | WIPF1 | c.911C>A (p.Ser304Ter) n.916C>A c.910C>A (p.His304Asn) c.533C>A (p.Ser178Ter) | |
2 | g.174571895A= | CA1308757342 | WIPF1 | c.910T= (p.Ser304=) n.915T= c.909T= (p.Pro303=) c.532T= (p.Ser178=) | |
2 | g.174571895A>C | CA60843187 | WIPF1 | c.910T>G (p.Ser304Ala) n.915T>G c.909T>G (p.Pro303=) c.532T>G (p.Ser178Ala) | dbSNP |
2 | g.174571895A>G | CA349341227 | WIPF1 | c.910T>C (p.Ser304Pro) n.915T>C c.909T>C (p.Pro303=) c.532T>C (p.Ser178Pro) | |
2 | g.174571895A>T | CA349341229 | WIPF1 | c.910T>A (p.Ser304Thr) n.915T>A c.909T>A (p.Pro303=) c.532T>A (p.Ser178Thr) | |
2 | g.174571896G>A | CA1974032 | WIPF1 | c.909C>T (p.Ser303=) n.914C>T c.908C>T (p.Pro303Leu) c.531C>T (p.Ser177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571896G>C | CA349341232 | WIPF1 | c.909C>G (p.Ser303=) n.914C>G c.908C>G (p.Pro303Arg) c.531C>G (p.Ser177=) | |
2 | g.174571896G= | CA1308757343 | WIPF1 | c.909C= (p.Ser303=) n.914C= c.908C= (p.Pro303=) c.531C= (p.Ser177=) | |
2 | g.174571896G>T | CA349341233 | WIPF1 | c.909C>A (p.Ser303=) n.914C>A c.908C>A (p.Pro303His) c.531C>A (p.Ser177=) | |
2 | g.174571897G>A | CA349341237 | WIPF1 | c.908C>T (p.Ser303Phe) n.913C>T c.907C>T (p.Pro303Ser) c.530C>T (p.Ser177Phe) | |
2 | g.174571897G>C | CA349341239 | WIPF1 | c.908C>G (p.Ser303Cys) n.913C>G c.907C>G (p.Pro303Ala) c.530C>G (p.Ser177Cys) | |
2 | g.174571897G>T | CA349341235 | WIPF1 | c.908C>A (p.Ser303Tyr) n.913C>A c.907C>A (p.Pro303Thr) c.530C>A (p.Ser177Tyr) | |
2 | g.174571898A>C | CA349341242 | WIPF1 | c.907T>G (p.Ser303Ala) n.912T>G c.907-1T>G (n.907-1T>G) c.529T>G (p.Ser177Ala) | |
2 | g.174571898A>G | CA349341241 | WIPF1 | c.907T>C (p.Ser303Pro) n.912T>C c.907-1T>C (n.907-1T>C) c.529T>C (p.Ser177Pro) | |
2 | g.174571898A>T | CA349341243 | WIPF1 | c.907T>A (p.Ser303Thr) n.912T>A c.907-1T>A (n.907-1T>A) c.529T>A (p.Ser177Thr) | |
2 | g.174571899G>A | CA349341244 | WIPF1 | c.906C>T (p.Ala302=) n.911C>T c.528C>T (p.Ala176=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571899G>C | CA1974033 | WIPF1 | c.906C>G (p.Ala302=) n.911C>G c.528C>G (p.Ala176=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174571899G= | CA1308757344 | WIPF1 | c.906C= (p.Ala302=) n.911C= c.528C= (p.Ala176=) | |
2 | g.174571899G>T | CA349341245 | WIPF1 | c.906C>A (p.Ala302=) n.911C>A c.528C>A (p.Ala176=) | |
2 | g.174571900G>A | CA349341246 | WIPF1 | c.905C>T (p.Ala302Val) n.910C>T c.527C>T (p.Ala176Val) | |
2 | g.174571900G>C | CA349341249 | WIPF1 | c.905C>G (p.Ala302Gly) n.910C>G c.527C>G (p.Ala176Gly) | gnomAD v4 |
2 | g.174571900G>T | CA349341248 | WIPF1 | c.905C>A (p.Ala302Asp) n.910C>A c.527C>A (p.Ala176Asp) | |
2 | g.174571901C>A | CA349341253 | WIPF1 | c.904G>T (p.Ala302Ser) n.909G>T c.526G>T (p.Ala176Ser) | |
2 | g.174571901C>G | CA349341255 | WIPF1 | c.904G>C (p.Ala302Pro) n.909G>C c.526G>C (p.Ala176Pro) | |
2 | g.174571901C>T | CA349341258 | WIPF1 | c.904G>A (p.Ala302Thr) n.909G>A c.526G>A (p.Ala176Thr) | |
2 | g.174571902C>A | CA430228905 | WIPF1 | c.903G>T (p.Ser301=) n.908G>T c.525G>T (p.Ser175=) | |
2 | g.174571902C= | CA1308757345 | WIPF1 | c.903G= (p.Ser301=) n.908G= c.525G= (p.Ser175=) | |
2 | g.174571902C>G | CA430228907 | WIPF1 | c.903G>C (p.Ser301=) n.908G>C c.525G>C (p.Ser175=) | dbSNP gnomAD v2 |
2 | g.174571902C>T | CA1974034 | WIPF1 | c.903G>A (p.Ser301=) n.908G>A c.525G>A (p.Ser175=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.174571903G>A | CA1974035 | WIPF1 | c.902C>T (p.Ser301Leu) n.907C>T c.524C>T (p.Ser175Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174571903G>C | CA349341264 | WIPF1 | c.902C>G (p.Ser301Trp) n.907C>G c.524C>G (p.Ser175Trp) | gnomAD v4 |
2 | g.174571903G= | CA1308757346 | WIPF1 | c.902C= (p.Ser301=) n.907C= c.524C= (p.Ser175=) | |
2 | g.174571903G>T | CA349341265 | WIPF1 | c.902C>A (p.Ser301Ter) n.907C>A c.524C>A (p.Ser175Ter) | |
2 | g.174571904A>C | CA349341267 | WIPF1 | c.901T>G (p.Ser301Ala) n.906T>G c.523T>G (p.Ser175Ala) | |
2 | g.174571904A>G | CA349341269 | WIPF1 | c.901T>C (p.Ser301Pro) n.906T>C c.523T>C (p.Ser175Pro) | |
2 | g.174571904A>T | CA349341270 | WIPF1 | c.901T>A (p.Ser301Thr) n.906T>A c.523T>A (p.Ser175Thr) | |
2 | g.174571905A>C | CA430228914 | WIPF1 | c.900T>G (p.Pro300=) n.905T>G c.522T>G (p.Pro174=) | |
2 | g.174571905A>G | CA430228915 | WIPF1 | c.900T>C (p.Pro300=) n.905T>C c.522T>C (p.Pro174=) | |
2 | g.174571905A>T | CA430228916 | WIPF1 | c.900T>A (p.Pro300=) n.905T>A c.522T>A (p.Pro174=) | |
2 | g.174571906G>A | CA349341271 | WIPF1 | c.899C>T (p.Pro300Leu) n.904C>T c.521C>T (p.Pro174Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.174571906G>C | CA349341272 | WIPF1 | c.899C>G (p.Pro300Arg) n.904C>G c.521C>G (p.Pro174Arg) | |
2 | g.174571906G= | CA1308757347 | WIPF1 | c.899C= (p.Pro300=) n.904C= c.521C= (p.Pro174=) | |
2 | g.174571906G>T | CA349341273 | WIPF1 | c.899C>A (p.Pro300His) n.904C>A c.521C>A (p.Pro174His) | |
2 | g.174571907G>A | CA349341275 | WIPF1 | c.898C>T (p.Pro300Ser) n.903C>T c.520C>T (p.Pro174Ser) | |
2 | g.174571907G>C | CA349341278 | WIPF1 | c.898C>G (p.Pro300Ala) n.903C>G c.520C>G (p.Pro174Ala) | |
2 | g.174571907G= | CA1308757348 | WIPF1 | c.898C= (p.Pro300=) n.903C= c.520C= (p.Pro174=) | |
2 | g.174571907G>T | CA349341277 | WIPF1 | c.898C>A (p.Pro300Thr) n.903C>A c.520C>A (p.Pro174Thr) | dbSNP |
2 | g.174571908C>A | CA430228605 | WIPF1 | c.897G>T (p.Arg299=) n.902G>T c.519G>T (p.Arg173=) | |
2 | g.174571908C>G | CA430228606 | WIPF1 | c.897G>C (p.Arg299=) n.902G>C c.519G>C (p.Arg173=) | |
2 | g.174571908C>T | CA430228607 | WIPF1 | c.897G>A (p.Arg299=) n.902G>A c.519G>A (p.Arg173=) | |
2 | g.174571909C>A | CA349341280 | WIPF1 | c.896G>T (p.Arg299Leu) n.901G>T c.518G>T (p.Arg173Leu) | |
2 | g.174571909C= | CA1308757349 | WIPF1 | c.896G= (p.Arg299=) n.901G= c.518G= (p.Arg173=) | |
2 | g.174571909C>G | CA349341281 | WIPF1 | c.896G>C (p.Arg299Pro) n.901G>C c.518G>C (p.Arg173Pro) | dbSNP |
2 | g.174571909C>T | CA349341282 | WIPF1 | c.896G>A (p.Arg299Gln) n.901G>A c.518G>A (p.Arg173Gln) | gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.174571910G>A | CA349341284 | WIPF1 | c.895C>T (p.Arg299Trp) n.900C>T c.517C>T (p.Arg173Trp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.174571910G>C | CA349341286 | WIPF1 | c.895C>G (p.Arg299Gly) n.900C>G c.517C>G (p.Arg173Gly) | |
2 | g.174571910G= | CA1308757350 | WIPF1 | c.895C= (p.Arg299=) n.900C= c.517C= (p.Arg173=) | |
2 | g.174571910G>T | CA430228611 | WIPF1 | c.895C>A (p.Arg299=) n.900C>A c.517C>A (p.Arg173=) | |
2 | g.174571911C>A | CA430228612 | WIPF1 | c.894G>T (p.Pro298=) n.899G>T c.516G>T (p.Pro172=) | |
2 | g.174571911C= | CA1308757351 | WIPF1 | c.894G= (p.Pro298=) n.899G= c.516G= (p.Pro172=) | |
2 | g.174571911C>G | CA430228613 | WIPF1 | c.894G>C (p.Pro298=) n.899G>C c.516G>C (p.Pro172=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.174571911C>T | CA1974036 | WIPF1 | c.894G>A (p.Pro298=) n.899G>A c.516G>A (p.Pro172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571912G>A | CA1974037 | WIPF1 | c.893C>T (p.Pro298Leu) n.898C>T c.515C>T (p.Pro172Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571912G>C | CA1974038 | WIPF1 | c.893C>G (p.Pro298Arg) n.898C>G c.515C>G (p.Pro172Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571912G= | CA1308757352 | WIPF1 | c.893C= (p.Pro298=) n.898C= c.515C= (p.Pro172=) | |
2 | g.174571912G>T | CA349341291 | WIPF1 | c.893C>A (p.Pro298Gln) n.898C>A c.515C>A (p.Pro172Gln) | |
2 | g.174571913G>A | CA349341297 | WIPF1 | c.892C>T (p.Pro298Ser) n.897C>T c.514C>T (p.Pro172Ser) | gnomAD v4 |
2 | g.174571913G>C | CA349341294 | WIPF1 | c.892C>G (p.Pro298Ala) n.897C>G c.514C>G (p.Pro172Ala) | |
2 | g.174571913G>T | CA349341293 | WIPF1 | c.892C>A (p.Pro298Thr) n.897C>A c.514C>A (p.Pro172Thr) | |
2 | g.174571914A= | CA1308757353 | WIPF1 | c.891T= (p.Thr297=) n.896T= c.513T= (p.Thr171=) | |
2 | g.174571914A>C | CA430228618 | WIPF1 | c.891T>G (p.Thr297=) n.896T>G c.513T>G (p.Thr171=) | |
2 | g.174571914A>G | CA430228617 | WIPF1 | c.891T>C (p.Thr297=) n.896T>C c.513T>C (p.Thr171=) | dbSNP |
2 | g.174571914A>T | CA430228615 | WIPF1 | c.891T>A (p.Thr297=) n.896T>A c.513T>A (p.Thr171=) | |
2 | g.174571915G>A | CA349341299 | WIPF1 | c.890C>T (p.Thr297Ile) n.895C>T c.512C>T (p.Thr171Ile) | gnomAD v4 |
2 | g.174571915G>C | CA349341301 | WIPF1 | c.890C>G (p.Thr297Ser) n.895C>G c.512C>G (p.Thr171Ser) | gnomAD v4 |
2 | g.174571915G>T | CA349341303 | WIPF1 | c.890C>A (p.Thr297Asn) n.895C>A c.512C>A (p.Thr171Asn) | |
2 | g.174571916T>A | CA1974039 | WIPF1 | c.889A>T (p.Thr297Ser) n.894A>T c.511A>T (p.Thr171Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571916T>C | CA349341306 | WIPF1 | c.889A>G (p.Thr297Ala) n.894A>G c.511A>G (p.Thr171Ala) | COSMIC COSMIC COSMIC |
2 | g.174571916T>G | CA349341308 | WIPF1 | c.889A>C (p.Thr297Pro) n.894A>C c.511A>C (p.Thr171Pro) | |
2 | g.174571916T= | CA1308757354 | WIPF1 | c.889A= (p.Thr297=) n.894A= c.511A= (p.Thr171=) | |
2 | g.174571917G>A | CA430228620 | WIPF1 | c.888C>T (p.Ser296=) n.893C>T c.510C>T (p.Ser170=) | gnomAD v4 |
2 | g.174571917G>C | CA430228621 | WIPF1 | c.888C>G (p.Ser296=) n.893C>G c.510C>G (p.Ser170=) | |
2 | g.174571917G>T | CA430228622 | WIPF1 | c.888C>A (p.Ser296=) n.893C>A c.510C>A (p.Ser170=) | |
2 | g.174571918G>A | CA349341310 | WIPF1 | c.887C>T (p.Ser296Phe) n.892C>T c.509C>T (p.Ser170Phe) | |
2 | g.174571918G>C | CA349341312 | WIPF1 | c.887C>G (p.Ser296Cys) n.892C>G c.509C>G (p.Ser170Cys) | |
2 | g.174571918G= | CA1308757355 | WIPF1 | c.887C= (p.Ser296=) n.892C= c.509C= (p.Ser170=) | |
2 | g.174571918G>T | CA1974040 | WIPF1 | c.887C>A (p.Ser296Tyr) n.892C>A c.509C>A (p.Ser170Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571919A>C | CA349341315 | WIPF1 | c.886T>G (p.Ser296Ala) n.891T>G c.508T>G (p.Ser170Ala) | |
2 | g.174571919A>G | CA349341317 | WIPF1 | c.886T>C (p.Ser296Pro) n.891T>C c.508T>C (p.Ser170Pro) | |
2 | g.174571919A>T | CA349341318 | WIPF1 | c.886T>A (p.Ser296Thr) n.891T>A c.508T>A (p.Ser170Thr) | |
2 | g.174571920A= | CA1308757356 | WIPF1 | c.885T= (p.Pro295=) n.890T= c.507T= (p.Pro169=) | |
2 | g.174571920A>C | CA430228626 | WIPF1 | c.885T>G (p.Pro295=) n.890T>G c.507T>G (p.Pro169=) | |
2 | g.174571920A>G | CA60843245 | WIPF1 | c.885T>C (p.Pro295=) n.890T>C c.507T>C (p.Pro169=) | dbSNP |
2 | g.174571920A>T | CA430228627 | WIPF1 | c.885T>A (p.Pro295=) n.890T>A c.507T>A (p.Pro169=) | |
2 | g.174571921G>A | CA349341325 | WIPF1 | c.884C>T (p.Pro295Leu) n.889C>T c.506C>T (p.Pro169Leu) | gnomAD v4 |
2 | g.174571921G>C | CA349341321 | WIPF1 | c.884C>G (p.Pro295Arg) n.889C>G c.506C>G (p.Pro169Arg) | |
2 | g.174571921G>T | CA349341323 | WIPF1 | c.884C>A (p.Pro295His) n.889C>A c.506C>A (p.Pro169His) | |
2 | g.174571922del | CA2662015762 | WIPF1 | c.884del (p.Pro295LeufsTer?) n.889del c.506del (p.Pro169LeufsTer?) | gnomAD v4 |
2 | g.174571922G>A | CA349341327 | WIPF1 | c.883C>T (p.Pro295Ser) n.888C>T c.505C>T (p.Pro169Ser) | |
2 | g.174571922G>C | CA349341329 | WIPF1 | c.883C>G (p.Pro295Ala) n.888C>G c.505C>G (p.Pro169Ala) | |
2 | g.174571922G>T | CA349341331 | WIPF1 | c.883C>A (p.Pro295Thr) n.888C>A c.505C>A (p.Pro169Thr) | |
2 | g.174571923C>A | CA430228628 | WIPF1 | c.882G>T (p.Val294=) n.887G>T c.504G>T (p.Val168=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.174571923C= | CA1308757357 | WIPF1 | c.882G= (p.Val294=) n.887G= c.504G= (p.Val168=) | |
2 | g.174571923C>G | CA430228629 | WIPF1 | c.882G>C (p.Val294=) n.887G>C c.504G>C (p.Val168=) | |
2 | g.174571923C>T | CA430228631 | WIPF1 | c.882G>A (p.Val294=) n.887G>A c.504G>A (p.Val168=) | |
2 | g.174571924A>C | CA349341334 | WIPF1 | c.881T>G (p.Val294Gly) n.886T>G c.503T>G (p.Val168Gly) | |
2 | g.174571924A>G | CA349341335 | WIPF1 | c.881T>C (p.Val294Ala) n.886T>C c.503T>C (p.Val168Ala) | |
2 | g.174571924A>T | CA349341337 | WIPF1 | c.881T>A (p.Val294Glu) n.886T>A c.503T>A (p.Val168Glu) | |
2 | g.174571925C>A | CA349341339 | WIPF1 | c.880G>T (p.Val294Leu) n.885G>T c.502G>T (p.Val168Leu) | |
2 | g.174571925C= | CA1308757358 | WIPF1 | c.880G= (p.Val294=) n.885G= c.502G= (p.Val168=) | |
2 | g.174571925C>G | CA349341341 | WIPF1 | c.880G>C (p.Val294Leu) n.885G>C c.502G>C (p.Val168Leu) | dbSNP |
2 | g.174571925C>T | CA60843247 | WIPF1 | c.880G>A (p.Val294Met) n.885G>A c.502G>A (p.Val168Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.174571926T>A | CA430228634 | WIPF1 | c.879A>T (p.Pro293=) n.884A>T c.501A>T (p.Pro167=) | |
2 | g.174571926T>C | CA430228635 | WIPF1 | c.879A>G (p.Pro293=) n.884A>G c.501A>G (p.Pro167=) | |
2 | g.174571926T>G | CA430228636 | WIPF1 | c.879A>C (p.Pro293=) n.884A>C c.501A>C (p.Pro167=) | |
2 | g.174571927G>A | CA349341343 | WIPF1 | c.878C>T (p.Pro293Leu) n.883C>T c.500C>T (p.Pro167Leu) | COSMIC COSMIC COSMIC |
2 | g.174571927G>C | CA349341345 | WIPF1 | c.878C>G (p.Pro293Arg) n.883C>G c.500C>G (p.Pro167Arg) | |
2 | g.174571927G>T | CA349341347 | WIPF1 | c.878C>A (p.Pro293Gln) n.883C>A c.500C>A (p.Pro167Gln) | |
2 | g.174571928G>A | CA349341353 | WIPF1 | c.877C>T (p.Pro293Ser) n.882C>T c.499C>T (p.Pro167Ser) | |
2 | g.174571928G>C | CA349341351 | WIPF1 | c.877C>G (p.Pro293Ala) n.882C>G c.499C>G (p.Pro167Ala) | |
2 | g.174571928G>T | CA349341349 | WIPF1 | c.877C>A (p.Pro293Thr) n.882C>A c.499C>A (p.Pro167Thr) | |
2 | g.174571929A= | CA1308757359 | WIPF1 | c.876T= (p.Pro292=) n.881T= c.498T= (p.Pro166=) | |
2 | g.174571929A>C | CA430228641 | WIPF1 | c.876T>G (p.Pro292=) n.881T>G c.498T>G (p.Pro166=) | |
2 | g.174571929A>G | CA430228642 | WIPF1 | c.876T>C (p.Pro292=) n.881T>C c.498T>C (p.Pro166=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571929A>T | CA430228640 | WIPF1 | c.876T>A (p.Pro292=) n.881T>A c.498T>A (p.Pro166=) | |
2 | g.174571930G>A | CA349341358 | WIPF1 | c.875C>T (p.Pro292Leu) n.880C>T c.497C>T (p.Pro166Leu) | gnomAD v4 |
2 | g.174571930G>C | CA349341356 | WIPF1 | c.875C>G (p.Pro292Arg) n.880C>G c.497C>G (p.Pro166Arg) | |
2 | g.174571930G>T | CA349341360 | WIPF1 | c.875C>A (p.Pro292His) n.880C>A c.497C>A (p.Pro166His) | COSMIC COSMIC |
2 | g.174571931G>A | CA1974041 | WIPF1 | c.874C>T (p.Pro292Ser) n.879C>T c.496C>T (p.Pro166Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174571931G>C | CA349341362 | WIPF1 | c.874C>G (p.Pro292Ala) n.879C>G c.496C>G (p.Pro166Ala) | gnomAD v4 |
2 | g.174571931G= | CA1308757360 | WIPF1 | c.874C= (p.Pro292=) n.879C= c.496C= (p.Pro166=) | |
2 | g.174571931G>T | CA349341363 | WIPF1 | c.874C>A (p.Pro292Thr) n.879C>A c.496C>A (p.Pro166Thr) | gnomAD v4 |
2 | g.174571932C>A | CA349341364 | WIPF1 | c.873G>T (p.Lys291Asn) n.878G>T c.495G>T (p.Lys165Asn) | gnomAD v4 |
2 | g.174571932C= | CA1308757361 | WIPF1 | c.873G= (p.Lys291=) n.878G= c.495G= (p.Lys165=) | |
2 | g.174571932C>G | CA349341365 | WIPF1 | c.873G>C (p.Lys291Asn) n.878G>C c.495G>C (p.Lys165Asn) | |
2 | g.174571932C>T | CA1974043 | WIPF1 | c.873G>A (p.Lys291=) n.878G>A c.495G>A (p.Lys165=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571932_174571935delinsCTTG | CA1308757362 | WIPF1 | c.870_873delinsCAAG (p.Asn290=) n.875_878delinsCAAG c.492_495delinsCAAG (p.Asn164=) | |
2 | g.174571933T>A | CA349341366 | WIPF1 | c.872A>T (p.Lys291Met) n.877A>T c.494A>T (p.Lys165Met) | |
2 | g.174571933T>C | CA349341367 | WIPF1 | c.872A>G (p.Lys291Arg) n.877A>G c.494A>G (p.Lys165Arg) | |
2 | g.174571933T>G | CA349341368 | WIPF1 | c.872A>C (p.Lys291Thr) n.877A>C c.494A>C (p.Lys165Thr) | dbSNP |
2 | g.174571933T= | CA1308757363 | WIPF1 | c.872A= (p.Lys291=) n.877A= c.494A= (p.Lys165=) | |
2 | g.174571938_174571940del | CA1974042 | WIPF1 | c.870_872del (p.Asn290del) n.875_877del c.492_494del (p.Asn164del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174571934T>A | CA349341369 | WIPF1 | c.871A>T (p.Lys291Ter) n.876A>T c.493A>T (p.Lys165Ter) | |
2 | g.174571934T>C | CA349341370 | WIPF1 | c.871A>G (p.Lys291Glu) n.876A>G c.493A>G (p.Lys165Glu) | dbSNP |
2 | g.174571934T>G | CA349341371 | WIPF1 | c.871A>C (p.Lys291Gln) n.876A>C c.493A>C (p.Lys165Gln) | |
2 | g.174571934_174571935delinsTG | CA1308757364 | WIPF1 | c.870_871delinsCA (p.Asn290=) n.875_876delinsCA c.492_493delinsCA (p.Asn164=) | |
2 | g.174571935del | CA1974044 | WIPF1 | c.870del (p.Asn290LysfsTer?) n.875del c.492del (p.Asn164LysfsTer?) | dbSNP ExAC gnomAD v2 |
2 | g.174571935G>A | CA430228649 | WIPF1 | c.870C>T (p.Asn290=) n.875C>T c.492C>T (p.Asn164=) | |
2 | g.174571935G>C | CA349341375 | WIPF1 | c.870C>G (p.Asn290Lys) n.875C>G c.492C>G (p.Asn164Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.174571935G>T | CA349341373 | WIPF1 | c.870C>A (p.Asn290Lys) n.875C>A c.492C>A (p.Asn164Lys) | |
2 | g.174571936T>A | CA349341377 | WIPF1 | c.869A>T (p.Asn290Ile) n.874A>T c.491A>T (p.Asn164Ile) | |
2 | g.174571936T>C | CA349341378 | WIPF1 | c.869A>G (p.Asn290Ser) n.874A>G c.491A>G (p.Asn164Ser) | dbSNP |
2 | g.174571936T>G | CA349341381 | WIPF1 | c.869A>C (p.Asn290Thr) n.874A>C c.491A>C (p.Asn164Thr) | |
2 | g.174571936T= | CA1308757365 | WIPF1 | c.869A= (p.Asn290=) n.874A= c.491A= (p.Asn164=) | |
2 | g.174571937T>A | CA349341385 | WIPF1 | c.868A>T (p.Asn290Tyr) n.873A>T c.490A>T (p.Asn164Tyr) | |
2 | g.174571937T>C | CA349341387 | WIPF1 | c.868A>G (p.Asn290Asp) n.873A>G c.490A>G (p.Asn164Asp) | gnomAD v4 |
2 | g.174571937T>G | CA349341389 | WIPF1 | c.868A>C (p.Asn290His) n.873A>C c.490A>C (p.Asn164His) | |
2 | g.174571938G>A | CA430228650 | WIPF1 | c.867C>T (p.Asn289=) n.872C>T c.489C>T (p.Asn163=) | dbSNP |
2 | g.174571938G>C | CA349341391 | WIPF1 | c.867C>G (p.Asn289Lys) n.872C>G c.489C>G (p.Asn163Lys) | |
2 | g.174571938G>T | CA349341393 | WIPF1 | c.867C>A (p.Asn289Lys) n.872C>A c.489C>A (p.Asn163Lys) | |
2 | g.174571939T>A | CA349341397 | WIPF1 | c.866A>T (p.Asn289Ile) n.871A>T c.488A>T (p.Asn163Ile) | |
2 | g.174571939T>C | CA349341398 | WIPF1 | c.866A>G (p.Asn289Ser) n.871A>G c.488A>G (p.Asn163Ser) | COSMIC COSMIC COSMIC |
2 | g.174571939T>G | CA349341400 | WIPF1 | c.866A>C (p.Asn289Thr) n.871A>C c.488A>C (p.Asn163Thr) | |
2 | g.174571940T>A | CA349341405 | WIPF1 | c.865A>T (p.Asn289Tyr) n.870A>T c.487A>T (p.Asn163Tyr) | |
2 | g.174571940T>C | CA349341403 | WIPF1 | c.865A>G (p.Asn289Asp) n.870A>G c.487A>G (p.Asn163Asp) | |
2 | g.174571940T>G | CA349341401 | WIPF1 | c.865A>C (p.Asn289His) n.870A>C c.487A>C (p.Asn163His) | |
2 | g.174571941C>A | CA349341406 | WIPF1 | c.864G>T (p.Gln288His) n.869G>T c.486G>T (p.Gln162His) | gnomAD v4 |
2 | g.174571941C= | CA1308757366 | WIPF1 | c.864G= (p.Gln288=) n.869G= c.486G= (p.Gln162=) | |
2 | g.174571941C>G | CA349341408 | WIPF1 | c.864G>C (p.Gln288His) n.869G>C c.486G>C (p.Gln162His) | |
2 | g.174571941C>T | CA60843269 | WIPF1 | c.864G>A (p.Gln288=) n.869G>A c.486G>A (p.Gln162=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |