Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.79559458delCA2609869156SFTPA2c.28del (p.Leu10SerfsTer3)
c.73del (p.Leu25SerfsTer3)
c.79del (p.Leu27SerfsTer3)
c.58del (p.Leu20SerfsTer3)
 gnomAD v4
10g.79559458G>ACA377354402SFTPA2c.26C>T (p.Thr9Ile)
c.71C>T (p.Thr24Ile)
c.77C>T (p.Thr26Ile)
c.56C>T (p.Thr19Ile)
 gnomAD v4
10g.79559458G>CCA5574232SFTPA2c.26C>G (p.Thr9Ser)
c.71C>G (p.Thr24Ser)
c.77C>G (p.Thr26Ser)
c.56C>G (p.Thr19Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559458G=CA1922245573SFTPA2c.26C= (p.Thr9=)
c.71C= (p.Thr24=)
c.77C= (p.Thr26=)
c.56C= (p.Thr19=)
10g.79559458G>TCA5574231SFTPA2c.26C>A (p.Thr9Asn)
c.71C>A (p.Thr24Asn)
c.77C>A (p.Thr26Asn)
c.56C>A (p.Thr19Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559459T>ACA377354408SFTPA2c.25A>T (p.Thr9Ser)
c.70A>T (p.Thr24Ser)
c.76A>T (p.Thr26Ser)
c.55A>T (p.Thr19Ser)
10g.79559459T>CCA377354410SFTPA2c.25A>G (p.Thr9Ala)
c.70A>G (p.Thr24Ala)
c.76A>G (p.Thr26Ala)
c.55A>G (p.Thr19Ala)
10g.79559459T>GCA377354412SFTPA2c.25A>C (p.Thr9Pro)
c.70A>C (p.Thr24Pro)
c.76A>C (p.Thr26Pro)
c.55A>C (p.Thr19Pro)
10g.79559460G>ACA470417730SFTPA2c.24C>T (p.Leu8=)
c.69C>T (p.Leu23=)
c.75C>T (p.Leu25=)
c.54C>T (p.Leu18=)
10g.79559460G>CCA470417732SFTPA2c.24C>G (p.Leu8=)
c.69C>G (p.Leu23=)
c.75C>G (p.Leu25=)
c.54C>G (p.Leu18=)
10g.79559460G>TCA470417734SFTPA2c.24C>A (p.Leu8=)
c.69C>A (p.Leu23=)
c.75C>A (p.Leu25=)
c.54C>A (p.Leu18=)
10g.79559461A>CCA377354415SFTPA2c.23T>G (p.Leu8Arg)
c.68T>G (p.Leu23Arg)
c.74T>G (p.Leu25Arg)
c.53T>G (p.Leu18Arg)
10g.79559461A>GCA377354417SFTPA2c.23T>C (p.Leu8Pro)
c.68T>C (p.Leu23Pro)
c.74T>C (p.Leu25Pro)
c.53T>C (p.Leu18Pro)
10g.79559461A>TCA377354425SFTPA2c.23T>A (p.Leu8His)
c.68T>A (p.Leu23His)
c.74T>A (p.Leu25His)
c.53T>A (p.Leu18His)
10g.79559462G>ACA377354426SFTPA2c.22C>T (p.Leu8Phe)
c.67C>T (p.Leu23Phe)
c.73C>T (p.Leu25Phe)
c.52C>T (p.Leu18Phe)
10g.79559462G>CCA377354427SFTPA2c.22C>G (p.Leu8Val)
c.67C>G (p.Leu23Val)
c.73C>G (p.Leu25Val)
c.52C>G (p.Leu18Val)
10g.79559462G>TCA377354429SFTPA2c.22C>A (p.Leu8Ile)
c.67C>A (p.Leu23Ile)
c.73C>A (p.Leu25Ile)
c.52C>A (p.Leu18Ile)
10g.79559463G>ACA5574233SFTPA2c.21C>T (p.Ala7=)
c.66C>T (p.Ala22=)
c.72C>T (p.Ala24=)
c.51C>T (p.Ala17=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559463G>CCA470417749SFTPA2c.21C>G (p.Ala7=)
c.66C>G (p.Ala22=)
c.72C>G (p.Ala24=)
c.51C>G (p.Ala17=)
10g.79559463G=CA1922245574SFTPA2c.21C= (p.Ala7=)
c.66C= (p.Ala22=)
c.72C= (p.Ala24=)
c.51C= (p.Ala17=)
10g.79559463G>TCA470417752SFTPA2c.21C>A (p.Ala7=)
c.66C>A (p.Ala22=)
c.72C>A (p.Ala24=)
c.51C>A (p.Ala17=)
 gnomAD v4
10g.79559464G>ACA210251331SFTPA2c.20C>T (p.Ala7Val)
c.65C>T (p.Ala22Val)
c.71C>T (p.Ala24Val)
c.50C>T (p.Ala17Val)
 dbSNP gnomAD v3 gnomAD v4
10g.79559464G>CCA377354450SFTPA2c.20C>G (p.Ala7Gly)
c.65C>G (p.Ala22Gly)
c.71C>G (p.Ala24Gly)
c.50C>G (p.Ala17Gly)
10g.79559464G=CA1922245575SFTPA2c.20C= (p.Ala7=)
c.65C= (p.Ala22=)
c.71C= (p.Ala24=)
c.50C= (p.Ala17=)
10g.79559464G>TCA377354453SFTPA2c.20C>A (p.Ala7Asp)
c.65C>A (p.Ala22Asp)
c.71C>A (p.Ala24Asp)
c.50C>A (p.Ala17Asp)
 COSMIC
10g.79559465C>ACA377354472SFTPA2c.19G>T (p.Ala7Ser)
c.64G>T (p.Ala22Ser)
c.70G>T (p.Ala24Ser)
c.49G>T (p.Ala17Ser)
10g.79559465C>GCA377354473SFTPA2c.19G>C (p.Ala7Pro)
c.64G>C (p.Ala22Pro)
c.70G>C (p.Ala24Pro)
c.49G>C (p.Ala17Pro)
10g.79559465C>TCA377354470SFTPA2c.19G>A (p.Ala7Thr)
c.64G>A (p.Ala22Thr)
c.70G>A (p.Ala24Thr)
c.49G>A (p.Ala17Thr)
 gnomAD v4
10g.79559466C>ACA470417764SFTPA2c.18G>T (p.Leu6=)
c.63G>T (p.Leu21=)
c.69G>T (p.Leu23=)
c.48G>T (p.Leu16=)
10g.79559466C>GCA470417765SFTPA2c.18G>C (p.Leu6=)
c.63G>C (p.Leu21=)
c.69G>C (p.Leu23=)
c.48G>C (p.Leu16=)
10g.79559466C>TCA470417768SFTPA2c.18G>A (p.Leu6=)
c.63G>A (p.Leu21=)
c.69G>A (p.Leu23=)
c.48G>A (p.Leu16=)
10g.79559467A=CA1922245576SFTPA2c.17T= (p.Leu6=)
c.62T= (p.Leu21=)
c.68T= (p.Leu23=)
c.47T= (p.Leu16=)
10g.79559467A>CCA377354477SFTPA2c.17T>G (p.Leu6Arg)
c.62T>G (p.Leu21Arg)
c.68T>G (p.Leu23Arg)
c.47T>G (p.Leu16Arg)
10g.79559467A>GCA377354482SFTPA2c.17T>C (p.Leu6Pro)
c.62T>C (p.Leu21Pro)
c.68T>C (p.Leu23Pro)
c.47T>C (p.Leu16Pro)
10g.79559467A>TCA377354479SFTPA2c.17T>A (p.Leu6Gln)
c.62T>A (p.Leu21Gln)
c.68T>A (p.Leu23Gln)
c.47T>A (p.Leu16Gln)
 dbSNP gnomAD v3 gnomAD v4
10g.79559468G>ACA470417775SFTPA2c.16C>T (p.Leu6=)
c.61C>T (p.Leu21=)
c.67C>T (p.Leu23=)
c.46C>T (p.Leu16=)
10g.79559468G>CCA377354484SFTPA2c.16C>G (p.Leu6Val)
c.61C>G (p.Leu21Val)
c.67C>G (p.Leu23Val)
c.46C>G (p.Leu16Val)
10g.79559468G>TCA377354487SFTPA2c.16C>A (p.Leu6Met)
c.61C>A (p.Leu21Met)
c.67C>A (p.Leu23Met)
c.46C>A (p.Leu16Met)
 gnomAD v4
10g.79559469A=CA1922245577SFTPA2c.15T= (p.Pro5=)
c.60T= (p.Pro20=)
c.66T= (p.Pro22=)
c.45T= (p.Pro15=)
10g.79559469A>CCA470417780SFTPA2c.15T>G (p.Pro5=)
c.60T>G (p.Pro20=)
c.66T>G (p.Pro22=)
c.45T>G (p.Pro15=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79559469A>GCA470417782SFTPA2c.15T>C (p.Pro5=)
c.60T>C (p.Pro20=)
c.66T>C (p.Pro22=)
c.45T>C (p.Pro15=)
 dbSNP gnomAD v2 gnomAD v4
10g.79559469A>TCA470417784SFTPA2c.15T>A (p.Pro5=)
c.60T>A (p.Pro20=)
c.66T>A (p.Pro22=)
c.45T>A (p.Pro15=)
10g.79559470G>ACA5574234SFTPA2c.14C>T (p.Pro5Leu)
c.59C>T (p.Pro20Leu)
c.65C>T (p.Pro22Leu)
c.44C>T (p.Pro15Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79559470G>CCA377354491SFTPA2c.14C>G (p.Pro5Arg)
c.59C>G (p.Pro20Arg)
c.65C>G (p.Pro22Arg)
c.44C>G (p.Pro15Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79559470G=CA1922245578SFTPA2c.14C= (p.Pro5=)
c.59C= (p.Pro20=)
c.65C= (p.Pro22=)
c.44C= (p.Pro15=)
10g.79559470G>TCA377354494SFTPA2c.14C>A (p.Pro5His)
c.59C>A (p.Pro20His)
c.65C>A (p.Pro22His)
c.44C>A (p.Pro15His)
 gnomAD v4
10g.79559471G>ACA377354496SFTPA2c.13C>T (p.Pro5Ser)
c.58C>T (p.Pro20Ser)
c.64C>T (p.Pro22Ser)
c.43C>T (p.Pro15Ser)
10g.79559471G>CCA377354497SFTPA2c.13C>G (p.Pro5Ala)
c.58C>G (p.Pro20Ala)
c.64C>G (p.Pro22Ala)
c.43C>G (p.Pro15Ala)
10g.79559471G>TCA377354498SFTPA2c.13C>A (p.Pro5Thr)
c.58C>A (p.Pro20Thr)
c.64C>A (p.Pro22Thr)
c.43C>A (p.Pro15Thr)
10g.79559472G>ACA470417797SFTPA2c.12C>T (p.Cys4=)
c.57C>T (p.Cys19=)
c.63C>T (p.Cys21=)
c.42C>T (p.Cys14=)

Number of alleles fetched