Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.22164028T>ACA370538475SFTPCc.563T>A (p.Leu188His)
c.581T>A (p.Leu194His)
c.*208T>A (n.*208T>A)
c.277-238T>A (n.277-238T>A)
c.422T>A (p.Leu141His)
8g.22164028T>CCA210546SFTPCc.563T>C (p.Leu188Pro)
c.581T>C (p.Leu194Pro)
c.*208T>C (n.*208T>C)
c.277-238T>C (n.277-238T>C)
c.422T>C (p.Leu141Pro)
 ClinVar dbSNP
8g.22164028T>GCA370538476SFTPCc.563T>G (p.Leu188Arg)
c.581T>G (p.Leu194Arg)
c.*208T>G (n.*208T>G)
c.277-238T>G (n.277-238T>G)
c.422T>G (p.Leu141Arg)
8g.22164028T=CA1770260598SFTPCc.563T= (p.Leu188=)
c.581T= (p.Leu194=)
c.*208T= (n.*208T=)
c.277-238T= (n.277-238T=)
c.422T= (p.Leu141=)
8g.22164029C>ACA460170829SFTPCc.564C>A (p.Leu188=)
c.582C>A (p.Leu194=)
c.*209C>A (n.*209C>A)
c.277-237C>A (n.277-237C>A)
c.423C>A (p.Leu141=)
8g.22164029C>GCA460170830SFTPCc.564C>G (p.Leu188=)
c.582C>G (p.Leu194=)
c.*209C>G (n.*209C>G)
c.277-237C>G (n.277-237C>G)
c.423C>G (p.Leu141=)
 COSMIC
8g.22164029C>TCA460170827SFTPCc.564C>T (p.Leu188=)
c.582C>T (p.Leu194=)
c.*209C>T (n.*209C>T)
c.277-237C>T (n.277-237C>T)
c.423C>T (p.Leu141=)
 gnomAD v4
8g.22164030T>ACA370538477SFTPCc.565T>A (p.Tyr189Asn)
c.583T>A (p.Tyr195Asn)
c.*210T>A (n.*210T>A)
c.277-236T>A (n.277-236T>A)
c.424T>A (p.Tyr142Asn)
8g.22164030T>CCA370538478SFTPCc.565T>C (p.Tyr189His)
c.583T>C (p.Tyr195His)
c.*210T>C (n.*210T>C)
c.277-236T>C (n.277-236T>C)
c.424T>C (p.Tyr142His)
8g.22164030T>GCA370538479SFTPCc.565T>G (p.Tyr189Asp)
c.583T>G (p.Tyr195Asp)
c.*210T>G (n.*210T>G)
c.277-236T>G (n.277-236T>G)
c.424T>G (p.Tyr142Asp)
8g.22164031A>CCA370538481SFTPCc.566A>C (p.Tyr189Ser)
c.584A>C (p.Tyr195Ser)
c.*211A>C (n.*211A>C)
c.277-235A>C (n.277-235A>C)
c.425A>C (p.Tyr142Ser)
8g.22164031A>GCA370538482SFTPCc.566A>G (p.Tyr189Cys)
c.584A>G (p.Tyr195Cys)
c.*211A>G (n.*211A>G)
c.277-235A>G (n.277-235A>G)
c.425A>G (p.Tyr142Cys)
 gnomAD v4
8g.22164031A>TCA370538480SFTPCc.566A>T (p.Tyr189Phe)
c.584A>T (p.Tyr195Phe)
c.*211A>T (n.*211A>T)
c.277-235A>T (n.277-235A>T)
c.425A>T (p.Tyr142Phe)
8g.22164032C>ACA370538483SFTPCc.567C>A (p.Tyr189Ter)
c.585C>A (p.Tyr195Ter)
c.*212C>A (n.*212C>A)
c.277-234C>A (n.277-234C>A)
c.426C>A (p.Tyr142Ter)
8g.22164032C>GCA370538484SFTPCc.567C>G (p.Tyr189Ter)
c.585C>G (p.Tyr195Ter)
c.*212C>G (n.*212C>G)
c.277-234C>G (n.277-234C>G)
c.426C>G (p.Tyr142Ter)
8g.22164032C>TCA460170839SFTPCc.567C>T (p.Tyr189=)
c.585C>T (p.Tyr195=)
c.*212C>T (n.*212C>T)
c.277-234C>T (n.277-234C>T)
c.426C>T (p.Tyr142=)
 gnomAD v4
8g.22164033T>ACA370538485SFTPCc.568T>A (p.Tyr190Asn)
c.586T>A (p.Tyr196Asn)
c.*213T>A (n.*213T>A)
c.277-233T>A (n.277-233T>A)
c.427T>A (p.Tyr143Asn)
8g.22164033T>CCA370538486SFTPCc.568T>C (p.Tyr190His)
c.586T>C (p.Tyr196His)
c.*213T>C (n.*213T>C)
c.277-233T>C (n.277-233T>C)
c.427T>C (p.Tyr143His)
 dbSNP gnomAD v4
8g.22164033T>GCA370538487SFTPCc.568T>G (p.Tyr190Asp)
c.586T>G (p.Tyr196Asp)
c.*213T>G (n.*213T>G)
c.277-233T>G (n.277-233T>G)
c.427T>G (p.Tyr143Asp)
8g.22164033T=CA1770260607SFTPCc.568T= (p.Tyr190=)
c.586T= (p.Tyr196=)
c.*213T= (n.*213T=)
c.277-233T= (n.277-233T=)
c.427T= (p.Tyr143=)
8g.22164034A>CCA370538490SFTPCc.569A>C (p.Tyr190Ser)
c.587A>C (p.Tyr196Ser)
c.*214A>C (n.*214A>C)
c.277-232A>C (n.277-232A>C)
c.428A>C (p.Tyr143Ser)
8g.22164034A>GCA370538488SFTPCc.569A>G (p.Tyr190Cys)
c.587A>G (p.Tyr196Cys)
c.*214A>G (n.*214A>G)
c.277-232A>G (n.277-232A>G)
c.428A>G (p.Tyr143Cys)
8g.22164034A>TCA370538489SFTPCc.569A>T (p.Tyr190Phe)
c.587A>T (p.Tyr196Phe)
c.*214A>T (n.*214A>T)
c.277-232A>T (n.277-232A>T)
c.428A>T (p.Tyr143Phe)
8g.22164035C>ACA370538491SFTPCc.570C>A (p.Tyr190Ter)
c.588C>A (p.Tyr196Ter)
c.*215C>A (n.*215C>A)
c.277-231C>A (n.277-231C>A)
c.429C>A (p.Tyr143Ter)
8g.22164035C>GCA370538492SFTPCc.570C>G (p.Tyr190Ter)
c.588C>G (p.Tyr196Ter)
c.*215C>G (n.*215C>G)
c.277-231C>G (n.277-231C>G)
c.429C>G (p.Tyr143Ter)
8g.22164035C>TCA460170850SFTPCc.570C>T (p.Tyr190=)
c.588C>T (p.Tyr196=)
c.*215C>T (n.*215C>T)
c.277-231C>T (n.277-231C>T)
c.429C>T (p.Tyr143=)
8g.22164036A=CA1770260612SFTPCc.571A= (p.Ile191=)
c.589A= (p.Ile197=)
c.*216A= (n.*216A=)
c.277-230A= (n.277-230A=)
c.430A= (p.Ile144=)
8g.22164036A>CCA370538493SFTPCc.571A>C (p.Ile191Leu)
c.589A>C (p.Ile197Leu)
c.*216A>C (n.*216A>C)
c.277-230A>C (n.277-230A>C)
c.430A>C (p.Ile144Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.22164036A>GCA370538494SFTPCc.571A>G (p.Ile191Val)
c.589A>G (p.Ile197Val)
c.*216A>G (n.*216A>G)
c.277-230A>G (n.277-230A>G)
c.430A>G (p.Ile144Val)
8g.22164036A>TCA370538495SFTPCc.571A>T (p.Ile191Phe)
c.589A>T (p.Ile197Phe)
c.*216A>T (n.*216A>T)
c.277-230A>T (n.277-230A>T)
c.430A>T (p.Ile144Phe)
8g.22164037T>ACA370538496SFTPCc.572T>A (p.Ile191Asn)
c.590T>A (p.Ile197Asn)
c.*217T>A (n.*217T>A)
c.277-229T>A (n.277-229T>A)
c.431T>A (p.Ile144Asn)
8g.22164037T>CCA370538498SFTPCc.572T>C (p.Ile191Thr)
c.590T>C (p.Ile197Thr)
c.*217T>C (n.*217T>C)
c.277-229T>C (n.277-229T>C)
c.431T>C (p.Ile144Thr)
8g.22164037T>GCA370538497SFTPCc.572T>G (p.Ile191Ser)
c.590T>G (p.Ile197Ser)
c.*217T>G (n.*217T>G)
c.277-229T>G (n.277-229T>G)
c.431T>G (p.Ile144Ser)
8g.22164038C>ACA460170865SFTPCc.573C>A (p.Ile191=)
c.591C>A (p.Ile197=)
c.*218C>A (n.*218C>A)
c.277-228C>A (n.277-228C>A)
c.432C>A (p.Ile144=)
8g.22164038C=CA1770260618SFTPCc.573C= (p.Ile191=)
c.591C= (p.Ile197=)
c.*218C= (n.*218C=)
c.277-228C= (n.277-228C=)
c.432C= (p.Ile144=)
8g.22164038C>GCA370538499SFTPCc.573C>G (p.Ile191Met)
c.591C>G (p.Ile197Met)
c.*218C>G (n.*218C>G)
c.277-228C>G (n.277-228C>G)
c.432C>G (p.Ile144Met)
 COSMIC
8g.22164038C>TCA173484085SFTPCc.573C>T (p.Ile191=)
c.591C>T (p.Ile197=)
c.*218C>T (n.*218C>T)
c.277-228C>T (n.277-228C>T)
c.432C>T (p.Ile144=)
 dbSNP
8g.22164039T>ACA370538500SFTPCc.574T>A (p.Ter192Lys)
c.592T>A (p.Ter198Lys)
c.*219T>A (n.*219T>A)
c.277-227T>A (n.277-227T>A)
c.433T>A (p.Ter145Lys)
8g.22164039T>CCA370538501SFTPCc.574T>C (p.Ter192Gln)
c.592T>C (p.Ter198Gln)
c.*219T>C (n.*219T>C)
c.277-227T>C (n.277-227T>C)
c.433T>C (p.Ter145Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.22164039T>GCA370538502SFTPCc.574T>G (p.Ter192Glu)
c.592T>G (p.Ter198Glu)
c.*219T>G (n.*219T>G)
c.277-227T>G (n.277-227T>G)
c.433T>G (p.Ter145Glu)
8g.22164039T=CA1770260622SFTPCc.574T= (p.Ter192=)
c.592T= (p.Ter198=)
c.*219T= (n.*219T=)
c.277-227T= (n.277-227T=)
c.433T= (p.Ter145=)
8g.22164040A=CA1770260628SFTPCc.575A= (p.Ter192=)
c.593A= (p.Ter198=)
c.*220A= (n.*220A=)
c.277-226A= (n.277-226A=)
c.434A= (p.Ter145=)
8g.22164040A>CCA370538503SFTPCc.575A>C (p.Ter192Ser)
c.593A>C (p.Ter198Ser)
c.*220A>C (n.*220A>C)
c.277-226A>C (n.277-226A>C)
c.434A>C (p.Ter145Ser)
8g.22164040A>GCA4664084SFTPCc.575A>G (p.Ter192Trp)
c.593A>G (p.Ter198Trp)
c.*220A>G (n.*220A>G)
c.277-226A>G (n.277-226A>G)
c.434A>G (p.Ter145Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.22164040A>TCA370538504SFTPCc.575A>T (p.Ter192Leu)
c.593A>T (p.Ter198Leu)
c.*220A>T (n.*220A>T)
c.277-226A>T (n.277-226A>T)
c.434A>T (p.Ter145Leu)
8g.22164041G>ACA460170873SFTPCc.576G>A (p.Ter192=)
c.594G>A (p.Ter198=)
c.*221G>A (n.*221G>A)
c.277-225G>A (n.277-225G>A)
c.435G>A (p.Ter145=)
8g.22164041G>CCA4664085SFTPCc.576G>C (p.Ter192Tyr)
c.594G>C (p.Ter198Tyr)
c.*221G>C (n.*221G>C)
c.277-225G>C (n.277-225G>C)
c.435G>C (p.Ter145Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.22164041G=CA1770260632SFTPCc.576G= (p.Ter192=)
c.594G= (p.Ter198=)
c.*221G= (n.*221G=)
c.277-225G= (n.277-225G=)
c.435G= (p.Ter145=)
8g.22164041G>TCA370538505SFTPCc.576G>T (p.Ter192Tyr)
c.594G>T (p.Ter198Tyr)
c.*221G>T (n.*221G>T)
c.277-225G>T (n.277-225G>T)
c.435G>T (p.Ter145Tyr)
8g.22164044C=CA1770260639SFTPCc.*3C= (n.*3C=)
c.*224C= (n.*224C=)
c.277-222C= (n.277-222C=)

Number of alleles fetched