Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.79557252_79557262del | CA2609869137 | SFTPA2 | c.697_707del (p.Trp233GlufsTer11) c.748_758del (p.Trp250GlufsTer11) c.727_737del (p.Trp243GlufsTer11) | gnomAD v4 |
10 | g.79557253C>A | CA377352679 | SFTPA2 | c.703G>T (p.Asp235Tyr) c.754G>T (p.Asp252Tyr) c.733G>T (p.Asp245Tyr) | gnomAD v4 |
10 | g.79557253C>G | CA377352678 | SFTPA2 | c.703G>C (p.Asp235His) c.754G>C (p.Asp252His) c.733G>C (p.Asp245His) | gnomAD v4 |
10 | g.79557253C>T | CA377352677 | SFTPA2 | c.703G>A (p.Asp235Asn) c.754G>A (p.Asp252Asn) c.733G>A (p.Asp245Asn) | |
10 | g.79557254A>C | CA377352680 | SFTPA2 | c.702T>G (p.Asn234Lys) c.753T>G (p.Asn251Lys) c.732T>G (p.Asn244Lys) | |
10 | g.79557254A>G | CA470414465 | SFTPA2 | c.702T>C (p.Asn234=) c.753T>C (p.Asn251=) c.732T>C (p.Asn244=) | gnomAD v4 |
10 | g.79557254A>T | CA377352681 | SFTPA2 | c.702T>A (p.Asn234Lys) c.753T>A (p.Asn251Lys) c.732T>A (p.Asn244Lys) | |
10 | g.79557255T>A | CA377352682 | SFTPA2 | c.701A>T (p.Asn234Ile) c.752A>T (p.Asn251Ile) c.731A>T (p.Asn244Ile) | |
10 | g.79557255T>C | CA377352683 | SFTPA2 | c.701A>G (p.Asn234Ser) c.752A>G (p.Asn251Ser) c.731A>G (p.Asn244Ser) | |
10 | g.79557255T>G | CA377352684 | SFTPA2 | c.701A>C (p.Asn234Thr) c.752A>C (p.Asn251Thr) c.731A>C (p.Asn244Thr) | |
10 | g.79557256T>A | CA377352687 | SFTPA2 | c.700A>T (p.Asn234Tyr) c.751A>T (p.Asn251Tyr) c.730A>T (p.Asn244Tyr) | |
10 | g.79557256T>C | CA377352686 | SFTPA2 | c.700A>G (p.Asn234Asp) c.751A>G (p.Asn251Asp) c.730A>G (p.Asn244Asp) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557256T>G | CA377352685 | SFTPA2 | c.700A>C (p.Asn234His) c.751A>C (p.Asn251His) c.730A>C (p.Asn244His) | |
10 | g.79557256T= | CA1922240630 | SFTPA2 | c.700A= (p.Asn234=) c.751A= (p.Asn251=) c.730A= (p.Asn244=) | |
10 | g.79557257C>A | CA377352688 | SFTPA2 | c.699G>T (p.Trp233Cys) c.750G>T (p.Trp250Cys) c.729G>T (p.Trp243Cys) | |
10 | g.79557257C= | CA1922240634 | SFTPA2 | c.699G= (p.Trp233=) c.750G= (p.Trp250=) c.729G= (p.Trp243=) | |
10 | g.79557257C>G | CA377352689 | SFTPA2 | c.699G>C (p.Trp233Cys) c.750G>C (p.Trp250Cys) c.729G>C (p.Trp243Cys) | |
10 | g.79557257C>T | CA377352690 | SFTPA2 | c.699G>A (p.Trp233Ter) c.750G>A (p.Trp250Ter) c.729G>A (p.Trp243Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.79557258C>A | CA377352691 | SFTPA2 | c.698G>T (p.Trp233Leu) c.749G>T (p.Trp250Leu) c.728G>T (p.Trp243Leu) | |
10 | g.79557258C>G | CA377352692 | SFTPA2 | c.698G>C (p.Trp233Ser) c.749G>C (p.Trp250Ser) c.728G>C (p.Trp243Ser) | |
10 | g.79557258C>T | CA377352693 | SFTPA2 | c.698G>A (p.Trp233Ter) c.749G>A (p.Trp250Ter) c.728G>A (p.Trp243Ter) | |
10 | g.79557259A>C | CA377352694 | SFTPA2 | c.697T>G (p.Trp233Gly) c.748T>G (p.Trp250Gly) c.727T>G (p.Trp243Gly) | |
10 | g.79557259A>G | CA377352696 | SFTPA2 | c.697T>C (p.Trp233Arg) c.748T>C (p.Trp250Arg) c.727T>C (p.Trp243Arg) | |
10 | g.79557259A>T | CA377352695 | SFTPA2 | c.697T>A (p.Trp233Arg) c.748T>A (p.Trp250Arg) c.727T>A (p.Trp243Arg) | ClinVar dbSNP |
10 | g.79557260C>A | CA377352697 | SFTPA2 | c.696G>T (p.Gln232His) c.747G>T (p.Gln249His) c.726G>T (p.Gln242His) | |
10 | g.79557260C>G | CA377352698 | SFTPA2 | c.696G>C (p.Gln232His) c.747G>C (p.Gln249His) c.726G>C (p.Gln242His) | |
10 | g.79557260C>T | CA470414466 | SFTPA2 | c.696G>A (p.Gln232=) c.747G>A (p.Gln249=) c.726G>A (p.Gln242=) | |
10 | g.79557261T>A | CA377352699 | SFTPA2 | c.695A>T (p.Gln232Leu) c.746A>T (p.Gln249Leu) c.725A>T (p.Gln242Leu) | |
10 | g.79557261T>C | CA377352700 | SFTPA2 | c.695A>G (p.Gln232Arg) c.746A>G (p.Gln249Arg) c.725A>G (p.Gln242Arg) | |
10 | g.79557261T>G | CA377352701 | SFTPA2 | c.695A>C (p.Gln232Pro) c.746A>C (p.Gln249Pro) c.725A>C (p.Gln242Pro) | |
10 | g.79557262G>A | CA377352702 | SFTPA2 | c.694C>T (p.Gln232Ter) c.745C>T (p.Gln249Ter) c.724C>T (p.Gln242Ter) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557262G>C | CA377352703 | SFTPA2 | c.694C>G (p.Gln232Glu) c.745C>G (p.Gln249Glu) c.724C>G (p.Gln242Glu) | |
10 | g.79557262G= | CA1922240638 | SFTPA2 | c.694C= (p.Gln232=) c.745C= (p.Gln249=) c.724C= (p.Gln242=) | |
10 | g.79557262G>T | CA377352704 | SFTPA2 | c.694C>A (p.Gln232Lys) c.745C>A (p.Gln249Lys) c.724C>A (p.Gln242Lys) | |
10 | g.79557263C>A | CA470414467 | SFTPA2 | c.693G>T (p.Gly231=) c.744G>T (p.Gly248=) c.723G>T (p.Gly241=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557263C= | CA1922240641 | SFTPA2 | c.693G= (p.Gly231=) c.744G= (p.Gly248=) c.723G= (p.Gly241=) | |
10 | g.79557263C>G | CA470414468 | SFTPA2 | c.693G>C (p.Gly231=) c.744G>C (p.Gly248=) c.723G>C (p.Gly241=) | |
10 | g.79557263C>T | CA470414469 | SFTPA2 | c.693G>A (p.Gly231=) c.744G>A (p.Gly248=) c.723G>A (p.Gly241=) | |
10 | g.79557264C>A | CA256736 | SFTPA2 | c.692G>T (p.Gly231Val) c.743G>T (p.Gly248Val) c.722G>T (p.Gly241Val) | ClinVar dbSNP |
10 | g.79557264C= | CA1922240649 | SFTPA2 | c.692G= (p.Gly231=) c.743G= (p.Gly248=) c.722G= (p.Gly241=) | |
10 | g.79557264C>G | CA377352705 | SFTPA2 | c.692G>C (p.Gly231Ala) c.743G>C (p.Gly248Ala) c.722G>C (p.Gly241Ala) | |
10 | g.79557264C>T | CA377352706 | SFTPA2 | c.692G>A (p.Gly231Glu) c.743G>A (p.Gly248Glu) c.722G>A (p.Gly241Glu) | |
10 | g.79557265C>A | CA377352708 | SFTPA2 | c.691G>T (p.Gly231Trp) c.742G>T (p.Gly248Trp) c.721G>T (p.Gly241Trp) | |
10 | g.79557265C= | CA1922240655 | SFTPA2 | c.691G= (p.Gly231=) c.742G= (p.Gly248=) c.721G= (p.Gly241=) | |
10 | g.79557265C>G | CA377352709 | SFTPA2 | c.691G>C (p.Gly231Arg) c.742G>C (p.Gly248Arg) c.721G>C (p.Gly241Arg) | |
10 | g.79557265C>T | CA377352707 | SFTPA2 | c.691G>A (p.Gly231Arg) c.742G>A (p.Gly248Arg) c.721G>A (p.Gly241Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557266del | CA2609869138 | SFTPA2 | c.690del (p.Asp230GlufsTer14) c.741del (p.Asp247GlufsTer14) c.720del (p.Asp240GlufsTer14) | gnomAD v4 |
10 | g.79557266A= | CA1922240658 | SFTPA2 | c.690T= (p.Asp230=) c.741T= (p.Asp247=) c.720T= (p.Asp240=) | |
10 | g.79557266A>C | CA377352710 | SFTPA2 | c.690T>G (p.Asp230Glu) c.741T>G (p.Asp247Glu) c.720T>G (p.Asp240Glu) | |
10 | g.79557266A>G | CA5573978 | SFTPA2 | c.690T>C (p.Asp230=) c.741T>C (p.Asp247=) c.720T>C (p.Asp240=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557266A>T | CA377352711 | SFTPA2 | c.690T>A (p.Asp230Glu) c.741T>A (p.Asp247Glu) c.720T>A (p.Asp240Glu) | gnomAD v4 |
10 | g.79557267T>A | CA377352712 | SFTPA2 | c.689A>T (p.Asp230Val) c.740A>T (p.Asp247Val) c.719A>T (p.Asp240Val) | |
10 | g.79557267T>C | CA377352713 | SFTPA2 | c.689A>G (p.Asp230Gly) c.740A>G (p.Asp247Gly) c.719A>G (p.Asp240Gly) | |
10 | g.79557267T>G | CA377352714 | SFTPA2 | c.689A>C (p.Asp230Ala) c.740A>C (p.Asp247Ala) c.719A>C (p.Asp240Ala) | |
10 | g.79557268C>A | CA377352715 | SFTPA2 | c.688G>T (p.Asp230Tyr) c.739G>T (p.Asp247Tyr) c.718G>T (p.Asp240Tyr) | |
10 | g.79557268C>G | CA377352716 | SFTPA2 | c.688G>C (p.Asp230His) c.739G>C (p.Asp247His) c.718G>C (p.Asp240His) | |
10 | g.79557268C>T | CA377352717 | SFTPA2 | c.688G>A (p.Asp230Asn) c.739G>A (p.Asp247Asn) c.718G>A (p.Asp240Asn) | |
10 | g.79557269T>A | CA470414470 | SFTPA2 | c.687A>T (p.Thr229=) c.738A>T (p.Thr246=) c.717A>T (p.Thr239=) | |
10 | g.79557269T>C | CA470414472 | SFTPA2 | c.687A>G (p.Thr229=) c.738A>G (p.Thr246=) c.717A>G (p.Thr239=) | |
10 | g.79557269T>G | CA470414471 | SFTPA2 | c.687A>C (p.Thr229=) c.738A>C (p.Thr246=) c.717A>C (p.Thr239=) | COSMIC |
10 | g.79557270G>A | CA377352718 | SFTPA2 | c.686C>T (p.Thr229Ile) c.737C>T (p.Thr246Ile) c.716C>T (p.Thr239Ile) | |
10 | g.79557270G>C | CA377352719 | SFTPA2 | c.686C>G (p.Thr229Arg) c.737C>G (p.Thr246Arg) c.716C>G (p.Thr239Arg) | |
10 | g.79557270G>T | CA377352720 | SFTPA2 | c.686C>A (p.Thr229Lys) c.737C>A (p.Thr246Lys) c.716C>A (p.Thr239Lys) | |
10 | g.79557271T>A | CA377352721 | SFTPA2 | c.685A>T (p.Thr229Ser) c.736A>T (p.Thr246Ser) c.715A>T (p.Thr239Ser) | |
10 | g.79557271T>C | CA5573979 | SFTPA2 | c.685A>G (p.Thr229Ala) c.736A>G (p.Thr246Ala) c.715A>G (p.Thr239Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557271T>G | CA377352722 | SFTPA2 | c.685A>C (p.Thr229Pro) c.736A>C (p.Thr246Pro) c.715A>C (p.Thr239Pro) | |
10 | g.79557271T= | CA1922240662 | SFTPA2 | c.685A= (p.Thr229=) c.736A= (p.Thr246=) c.715A= (p.Thr239=) | |
10 | g.79557272G>A | CA470414473 | SFTPA2 | c.684C>T (p.Tyr228=) c.735C>T (p.Tyr245=) c.714C>T (p.Tyr238=) | |
10 | g.79557272G>C | CA377352724 | SFTPA2 | c.684C>G (p.Tyr228Ter) c.735C>G (p.Tyr245Ter) c.714C>G (p.Tyr238Ter) | gnomAD v4 |
10 | g.79557272G>T | CA377352723 | SFTPA2 | c.684C>A (p.Tyr228Ter) c.735C>A (p.Tyr245Ter) c.714C>A (p.Tyr238Ter) | |
10 | g.79557273T>A | CA377352725 | SFTPA2 | c.683A>T (p.Tyr228Phe) c.734A>T (p.Tyr245Phe) c.713A>T (p.Tyr238Phe) | |
10 | g.79557273T>C | CA377352726 | SFTPA2 | c.683A>G (p.Tyr228Cys) c.734A>G (p.Tyr245Cys) c.713A>G (p.Tyr238Cys) | COSMIC |
10 | g.79557273T>G | CA377352727 | SFTPA2 | c.683A>C (p.Tyr228Ser) c.734A>C (p.Tyr245Ser) c.713A>C (p.Tyr238Ser) | |
10 | g.79557274A= | CA1922240664 | SFTPA2 | c.682T= (p.Tyr228=) c.733T= (p.Tyr245=) c.712T= (p.Tyr238=) | |
10 | g.79557274A>C | CA377352728 | SFTPA2 | c.682T>G (p.Tyr228Asp) c.733T>G (p.Tyr245Asp) c.712T>G (p.Tyr238Asp) | |
10 | g.79557274A>G | CA5573980 | SFTPA2 | c.682T>C (p.Tyr228His) c.733T>C (p.Tyr245His) c.712T>C (p.Tyr238His) | dbSNP ExAC gnomAD v2 |
10 | g.79557274A>T | CA377352729 | SFTPA2 | c.682T>A (p.Tyr228Asn) c.733T>A (p.Tyr245Asn) c.712T>A (p.Tyr238Asn) | |
10 | g.79557275C>A | CA377352730 | SFTPA2 | c.681G>T (p.Met227Ile) c.732G>T (p.Met244Ile) c.711G>T (p.Met237Ile) | |
10 | g.79557275C= | CA1922240668 | SFTPA2 | c.681G= (p.Met227=) c.732G= (p.Met244=) c.711G= (p.Met237=) | |
10 | g.79557275C>G | CA377352731 | SFTPA2 | c.681G>C (p.Met227Ile) c.732G>C (p.Met244Ile) c.711G>C (p.Met237Ile) | |
10 | g.79557275C>T | CA5573981 | SFTPA2 | c.681G>A (p.Met227Ile) c.732G>A (p.Met244Ile) c.711G>A (p.Met237Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.79557276A>C | CA377352732 | SFTPA2 | c.680T>G (p.Met227Arg) c.731T>G (p.Met244Arg) c.710T>G (p.Met237Arg) | ClinVar dbSNP |
10 | g.79557276A>G | CA377352733 | SFTPA2 | c.680T>C (p.Met227Thr) c.731T>C (p.Met244Thr) c.710T>C (p.Met237Thr) | |
10 | g.79557276A>T | CA377352734 | SFTPA2 | c.680T>A (p.Met227Lys) c.731T>A (p.Met244Lys) c.710T>A (p.Met237Lys) | |
10 | g.79557277T>A | CA377352737 | SFTPA2 | c.679A>T (p.Met227Leu) c.730A>T (p.Met244Leu) c.709A>T (p.Met237Leu) | gnomAD v4 |
10 | g.79557277T>C | CA377352736 | SFTPA2 | c.679A>G (p.Met227Val) c.730A>G (p.Met244Val) c.709A>G (p.Met237Val) | |
10 | g.79557277T>G | CA377352735 | SFTPA2 | c.679A>C (p.Met227Leu) c.730A>C (p.Met244Leu) c.709A>C (p.Met237Leu) | |
10 | g.79557278C>A | CA5573982 | SFTPA2 | c.678G>T (p.Glu226Asp) c.729G>T (p.Glu243Asp) c.708G>T (p.Glu236Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557278C= | CA1922240671 | SFTPA2 | c.678G= (p.Glu226=) c.729G= (p.Glu243=) c.708G= (p.Glu236=) | |
10 | g.79557278C>G | CA377352738 | SFTPA2 | c.678G>C (p.Glu226Asp) c.729G>C (p.Glu243Asp) c.708G>C (p.Glu236Asp) | |
10 | g.79557278C>T | CA470414474 | SFTPA2 | c.678G>A (p.Glu226=) c.729G>A (p.Glu243=) c.708G>A (p.Glu236=) | dbSNP gnomAD v4 |
10 | g.79557279T>A | CA377352739 | SFTPA2 | c.677A>T (p.Glu226Val) c.728A>T (p.Glu243Val) c.707A>T (p.Glu236Val) | |
10 | g.79557279T>C | CA377352740 | SFTPA2 | c.677A>G (p.Glu226Gly) c.728A>G (p.Glu243Gly) c.707A>G (p.Glu236Gly) | |
10 | g.79557279T>G | CA377352741 | SFTPA2 | c.677A>C (p.Glu226Ala) c.728A>C (p.Glu243Ala) c.707A>C (p.Glu236Ala) | |
10 | g.79557280C>A | CA377352742 | SFTPA2 | c.676G>T (p.Glu226Ter) c.727G>T (p.Glu243Ter) c.706G>T (p.Glu236Ter) | |
10 | g.79557280C>G | CA377352743 | SFTPA2 | c.676G>C (p.Glu226Gln) c.727G>C (p.Glu243Gln) c.706G>C (p.Glu236Gln) | |
10 | g.79557280C>T | CA377352744 | SFTPA2 | c.676G>A (p.Glu226Lys) c.727G>A (p.Glu243Lys) c.706G>A (p.Glu236Lys) | ClinVar |
10 | g.79557281C>A | CA470414475 | SFTPA2 | c.675G>T (p.Val225=) c.726G>T (p.Val242=) c.705G>T (p.Val235=) | gnomAD v4 |
10 | g.79557281C>G | CA470414476 | SFTPA2 | c.675G>C (p.Val225=) c.726G>C (p.Val242=) c.705G>C (p.Val235=) | |
10 | g.79557281C>T | CA470414477 | SFTPA2 | c.675G>A (p.Val225=) c.726G>A (p.Val242=) c.705G>A (p.Val235=) | |
10 | g.79557282A>C | CA377352745 | SFTPA2 | c.674T>G (p.Val225Gly) c.725T>G (p.Val242Gly) c.704T>G (p.Val235Gly) | |
10 | g.79557282A>G | CA377352746 | SFTPA2 | c.674T>C (p.Val225Ala) c.725T>C (p.Val242Ala) c.704T>C (p.Val235Ala) | |
10 | g.79557282A>T | CA377352747 | SFTPA2 | c.674T>A (p.Val225Glu) c.725T>A (p.Val242Glu) c.704T>A (p.Val235Glu) | |
10 | g.79557283C>A | CA377352750 | SFTPA2 | c.673G>T (p.Val225Leu) c.724G>T (p.Val242Leu) c.703G>T (p.Val235Leu) | dbSNP gnomAD v4 |
10 | g.79557283C= | CA1922240674 | SFTPA2 | c.673G= (p.Val225=) c.724G= (p.Val242=) c.703G= (p.Val235=) | |
10 | g.79557283C>G | CA377352749 | SFTPA2 | c.673G>C (p.Val225Leu) c.724G>C (p.Val242Leu) c.703G>C (p.Val235Leu) | |
10 | g.79557283C>T | CA377352748 | SFTPA2 | c.673G>A (p.Val225Met) c.724G>A (p.Val242Met) c.703G>A (p.Val235Met) | |
10 | g.79557284A>C | CA377352751 | SFTPA2 | c.672T>G (p.Cys224Trp) c.723T>G (p.Cys241Trp) c.702T>G (p.Cys234Trp) | |
10 | g.79557284A>G | CA470414478 | SFTPA2 | c.672T>C (p.Cys224=) c.723T>C (p.Cys241=) c.702T>C (p.Cys234=) | |
10 | g.79557284A>T | CA377352752 | SFTPA2 | c.672T>A (p.Cys224Ter) c.723T>A (p.Cys241Ter) c.702T>A (p.Cys234Ter) | COSMIC |
10 | g.79557285C>A | CA377352753 | SFTPA2 | c.671G>T (p.Cys224Phe) c.722G>T (p.Cys241Phe) c.701G>T (p.Cys234Phe) | |
10 | g.79557285C>G | CA377352754 | SFTPA2 | c.671G>C (p.Cys224Ser) c.722G>C (p.Cys241Ser) c.701G>C (p.Cys234Ser) | |
10 | g.79557285C>T | CA377352755 | SFTPA2 | c.671G>A (p.Cys224Tyr) c.722G>A (p.Cys241Tyr) c.701G>A (p.Cys234Tyr) | gnomAD v4 |
10 | g.79557286A>C | CA377352756 | SFTPA2 | c.670T>G (p.Cys224Gly) c.721T>G (p.Cys241Gly) c.700T>G (p.Cys234Gly) | |
10 | g.79557286A>G | CA377352757 | SFTPA2 | c.670T>C (p.Cys224Arg) c.721T>C (p.Cys241Arg) c.700T>C (p.Cys234Arg) | |
10 | g.79557286A>T | CA377352758 | SFTPA2 | c.670T>A (p.Cys224Ser) c.721T>A (p.Cys241Ser) c.700T>A (p.Cys234Ser) | |
10 | g.79557287C>A | CA377352759 | SFTPA2 | c.669G>T (p.Gln223His) c.720G>T (p.Gln240His) c.699G>T (p.Gln233His) | |
10 | g.79557287C= | CA1922240676 | SFTPA2 | c.669G= (p.Gln223=) c.720G= (p.Gln240=) c.699G= (p.Gln233=) | |
10 | g.79557287C>G | CA377352760 | SFTPA2 | c.669G>C (p.Gln223His) c.720G>C (p.Gln240His) c.699G>C (p.Gln233His) | |
10 | g.79557287C>T | CA470414479 | SFTPA2 | c.669G>A (p.Gln223=) c.720G>A (p.Gln240=) c.699G>A (p.Gln233=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557288T>A | CA377352761 | SFTPA2 | c.668A>T (p.Gln223Leu) c.719A>T (p.Gln240Leu) c.698A>T (p.Gln233Leu) | |
10 | g.79557288T>C | CA377352762 | SFTPA2 | c.668A>G (p.Gln223Arg) c.719A>G (p.Gln240Arg) c.698A>G (p.Gln233Arg) | dbSNP |
10 | g.79557288T>G | CA377352763 | SFTPA2 | c.668A>C (p.Gln223Pro) c.719A>C (p.Gln240Pro) c.698A>C (p.Gln233Pro) | |
10 | g.79557288T= | CA1922240679 | SFTPA2 | c.668A= (p.Gln223=) c.719A= (p.Gln240=) c.698A= (p.Gln233=) | |
10 | g.79557289G>A | CA377352764 | SFTPA2 | c.667C>T (p.Gln223Ter) c.718C>T (p.Gln240Ter) c.697C>T (p.Gln233Ter) | gnomAD v4 |
10 | g.79557289G>C | CA377352765 | SFTPA2 | c.667C>G (p.Gln223Glu) c.718C>G (p.Gln240Glu) c.697C>G (p.Gln233Glu) | |
10 | g.79557289G= | CA1630848392 | SFTPA2 | c.667C= (p.Gln223=) c.718C= (p.Gln240=) c.697C= (p.Gln233=) | |
10 | g.79557289G>T | CA5573983 | SFTPA2 | c.667C>A (p.Gln223Lys) c.718C>A (p.Gln240Lys) c.697C>A (p.Gln233Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557290C>A | CA377352767 | SFTPA2 | c.666G>T (p.Glu222Asp) c.717G>T (p.Glu239Asp) c.696G>T (p.Glu232Asp) | |
10 | g.79557290C>G | CA377352766 | SFTPA2 | c.666G>C (p.Glu222Asp) c.717G>C (p.Glu239Asp) c.696G>C (p.Glu232Asp) | |
10 | g.79557290C>T | CA470414480 | SFTPA2 | c.666G>A (p.Glu222=) c.717G>A (p.Glu239=) c.696G>A (p.Glu232=) | gnomAD v4 |
10 | g.79557291T>A | CA377352768 | SFTPA2 | c.665A>T (p.Glu222Val) c.716A>T (p.Glu239Val) c.695A>T (p.Glu232Val) | |
10 | g.79557291T>C | CA377352769 | SFTPA2 | c.665A>G (p.Glu222Gly) c.716A>G (p.Glu239Gly) c.695A>G (p.Glu232Gly) | gnomAD v4 |
10 | g.79557291T>G | CA377352770 | SFTPA2 | c.665A>C (p.Glu222Ala) c.716A>C (p.Glu239Ala) c.695A>C (p.Glu232Ala) | |
10 | g.79557292C>A | CA5573984 | SFTPA2 | c.664G>T (p.Glu222Ter) c.715G>T (p.Glu239Ter) c.694G>T (p.Glu232Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.79557292C= | CA1922240687 | SFTPA2 | c.664G= (p.Glu222=) c.715G= (p.Glu239=) c.694G= (p.Glu232=) | |
10 | g.79557292C>G | CA377352771 | SFTPA2 | c.664G>C (p.Glu222Gln) c.715G>C (p.Glu239Gln) c.694G>C (p.Glu232Gln) | gnomAD v4 COSMIC |
10 | g.79557292C>T | CA377352772 | SFTPA2 | c.664G>A (p.Glu222Lys) c.715G>A (p.Glu239Lys) c.694G>A (p.Glu232Lys) | |
10 | g.79557293T>A | CA377352773 | SFTPA2 | c.663A>T (p.Lys221Asn) c.714A>T (p.Lys238Asn) c.693A>T (p.Lys231Asn) | |
10 | g.79557293T>C | CA470414481 | SFTPA2 | c.663A>G (p.Lys221=) c.714A>G (p.Lys238=) c.693A>G (p.Lys231=) | |
10 | g.79557293T>G | CA377352774 | SFTPA2 | c.663A>C (p.Lys221Asn) c.714A>C (p.Lys238Asn) c.693A>C (p.Lys231Asn) | |
10 | g.79557294T>A | CA377352775 | SFTPA2 | c.662A>T (p.Lys221Ile) c.713A>T (p.Lys238Ile) c.692A>T (p.Lys231Ile) | |
10 | g.79557294T>C | CA377352776 | SFTPA2 | c.662A>G (p.Lys221Arg) c.713A>G (p.Lys238Arg) c.692A>G (p.Lys231Arg) | |
10 | g.79557294T>G | CA377352777 | SFTPA2 | c.662A>C (p.Lys221Thr) c.713A>C (p.Lys238Thr) c.692A>C (p.Lys231Thr) | gnomAD v4 |
10 | g.79557295T>A | CA210248098 | SFTPA2 | c.661A>T (p.Lys221Ter) c.712A>T (p.Lys238Ter) c.691A>T (p.Lys231Ter) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557295T>C | CA377352779 | SFTPA2 | c.661A>G (p.Lys221Glu) c.712A>G (p.Lys238Glu) c.691A>G (p.Lys231Glu) | |
10 | g.79557295T>G | CA377352778 | SFTPA2 | c.661A>C (p.Lys221Gln) c.712A>C (p.Lys238Gln) c.691A>C (p.Lys231Gln) | |
10 | g.79557295T= | CA1922240692 | SFTPA2 | c.661A= (p.Lys221=) c.712A= (p.Lys238=) c.691A= (p.Lys231=) | |
10 | g.79557296T>A | CA470414483 | SFTPA2 | c.660A>T (p.Gly220=) c.711A>T (p.Gly237=) c.690A>T (p.Gly230=) | |
10 | g.79557296T>C | CA470414484 | SFTPA2 | c.660A>G (p.Gly220=) c.711A>G (p.Gly237=) c.690A>G (p.Gly230=) | gnomAD v4 |
10 | g.79557296T>G | CA470414485 | SFTPA2 | c.660A>C (p.Gly220=) c.711A>C (p.Gly237=) c.690A>C (p.Gly230=) | |
10 | g.79557297C>A | CA377352780 | SFTPA2 | c.659G>T (p.Gly220Val) c.710G>T (p.Gly237Val) c.689G>T (p.Gly230Val) | |
10 | g.79557297C= | CA1922240694 | SFTPA2 | c.659G= (p.Gly220=) c.710G= (p.Gly237=) c.689G= (p.Gly230=) | |
10 | g.79557297C>G | CA377352781 | SFTPA2 | c.659G>C (p.Gly220Ala) c.710G>C (p.Gly237Ala) c.689G>C (p.Gly230Ala) | |
10 | g.79557297C>T | CA377352782 | SFTPA2 | c.659G>A (p.Gly220Glu) c.710G>A (p.Gly237Glu) c.689G>A (p.Gly230Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557298C>A | CA377352783 | SFTPA2 | c.658G>T (p.Gly220Ter) c.709G>T (p.Gly237Ter) c.688G>T (p.Gly230Ter) | |
10 | g.79557298C>G | CA377352784 | SFTPA2 | c.658G>C (p.Gly220Arg) c.709G>C (p.Gly237Arg) c.688G>C (p.Gly230Arg) | |
10 | g.79557298C>T | CA377352785 | SFTPA2 | c.658G>A (p.Gly220Arg) c.709G>A (p.Gly237Arg) c.688G>A (p.Gly230Arg) | |
10 | g.79557299C>A | CA470414487 | SFTPA2 | c.657G>T (p.Arg219=) c.708G>T (p.Arg236=) c.687G>T (p.Arg229=) | |
10 | g.79557299C= | CA1922240697 | SFTPA2 | c.657G= (p.Arg219=) c.708G= (p.Arg236=) c.687G= (p.Arg229=) | |
10 | g.79557299C>G | CA470414488 | SFTPA2 | c.657G>C (p.Arg219=) c.708G>C (p.Arg236=) c.687G>C (p.Arg229=) | |
10 | g.79557299C>T | CA5573985 | SFTPA2 | c.657G>A (p.Arg219=) c.708G>A (p.Arg236=) c.687G>A (p.Arg229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557300C>A | CA377352786 | SFTPA2 | c.656G>T (p.Arg219Leu) c.707G>T (p.Arg236Leu) c.686G>T (p.Arg229Leu) | ClinVar dbSNP |
10 | g.79557300C= | CA1922240702 | SFTPA2 | c.656G= (p.Arg219=) c.707G= (p.Arg236=) c.686G= (p.Arg229=) | |
10 | g.79557300C>G | CA377352787 | SFTPA2 | c.656G>C (p.Arg219Pro) c.707G>C (p.Arg236Pro) c.686G>C (p.Arg229Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557300C>T | CA5573986 | SFTPA2 | c.656G>A (p.Arg219Gln) c.707G>A (p.Arg236Gln) c.686G>A (p.Arg229Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.79557301del | CA2609869139 | SFTPA2 | c.655del (p.Arg219GlyfsTer25) c.706del (p.Arg236GlyfsTer25) c.685del (p.Arg229GlyfsTer25) | gnomAD v4 |
10 | g.79557301G>A | CA5573987 | SFTPA2 | c.655C>T (p.Arg219Trp) c.706C>T (p.Arg236Trp) c.685C>T (p.Arg229Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557301G>C | CA377352788 | SFTPA2 | c.655C>G (p.Arg219Gly) c.706C>G (p.Arg236Gly) c.685C>G (p.Arg229Gly) | gnomAD v4 |
10 | g.79557301G= | CA1922240709 | SFTPA2 | c.655C= (p.Arg219=) c.706C= (p.Arg236=) c.685C= (p.Arg229=) | |
10 | g.79557301G>T | CA470414489 | SFTPA2 | c.655C>A (p.Arg219=) c.706C>A (p.Arg236=) c.685C>A (p.Arg229=) | gnomAD v4 |
10 | g.79557301_79557321delinsGACCTGCAGGCTCCCCTCGGT | CA1922240710 | SFTPA2 | c.635_655delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr212=) c.686_706delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr229=) c.665_685delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr222=) | |
10 | g.79557302A= | CA1922240716 | SFTPA2 | c.654T= (p.Gly218=) c.705T= (p.Gly235=) c.684T= (p.Gly228=) | |
10 | g.79557302A>C | CA470414490 | SFTPA2 | c.654T>G (p.Gly218=) c.705T>G (p.Gly235=) c.684T>G (p.Gly228=) | COSMIC |
10 | g.79557302A>G | CA470414492 | SFTPA2 | c.654T>C (p.Gly218=) c.705T>C (p.Gly235=) c.684T>C (p.Gly228=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557302A>T | CA470414491 | SFTPA2 | c.654T>A (p.Gly218=) c.705T>A (p.Gly235=) c.684T>A (p.Gly228=) | |
10 | g.79557305_79557324del | CA5573988 | SFTPA2 | c.635_654del (p.Tyr212SerfsTer17) c.686_705del (p.Tyr229SerfsTer17) c.665_684del (p.Tyr222SerfsTer17) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557303C>A | CA377352791 | SFTPA2 | c.653G>T (p.Gly218Val) c.704G>T (p.Gly235Val) c.683G>T (p.Gly228Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557303C= | CA1922240719 | SFTPA2 | c.653G= (p.Gly218=) c.704G= (p.Gly235=) c.683G= (p.Gly228=) | |
10 | g.79557303C>G | CA377352790 | SFTPA2 | c.653G>C (p.Gly218Ala) c.704G>C (p.Gly235Ala) c.683G>C (p.Gly228Ala) | |
10 | g.79557303C>T | CA377352789 | SFTPA2 | c.653G>A (p.Gly218Asp) c.704G>A (p.Gly235Asp) c.683G>A (p.Gly228Asp) | |
10 | g.79557304C>A | CA377352792 | SFTPA2 | c.652G>T (p.Gly218Cys) c.703G>T (p.Gly235Cys) c.682G>T (p.Gly228Cys) | |
10 | g.79557304C= | CA1922240723 | SFTPA2 | c.652G= (p.Gly218=) c.703G= (p.Gly235=) c.682G= (p.Gly228=) | |
10 | g.79557304C>G | CA377352793 | SFTPA2 | c.652G>C (p.Gly218Arg) c.703G>C (p.Gly235Arg) c.682G>C (p.Gly228Arg) | dbSNP gnomAD v4 |
10 | g.79557304C>T | CA377352794 | SFTPA2 | c.652G>A (p.Gly218Ser) c.703G>A (p.Gly235Ser) c.682G>A (p.Gly228Ser) | |
10 | g.79557305T>A | CA470414493 | SFTPA2 | c.651A>T (p.Ala217=) c.702A>T (p.Ala234=) c.681A>T (p.Ala227=) | |
10 | g.79557305T>C | CA470414494 | SFTPA2 | c.651A>G (p.Ala217=) c.702A>G (p.Ala234=) c.681A>G (p.Ala227=) | |
10 | g.79557305T>G | CA470414495 | SFTPA2 | c.651A>C (p.Ala217=) c.702A>C (p.Ala234=) c.681A>C (p.Ala227=) | |
10 | g.79557306G>A | CA377352795 | SFTPA2 | c.650C>T (p.Ala217Val) c.701C>T (p.Ala234Val) c.680C>T (p.Ala227Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557306G>C | CA377352796 | SFTPA2 | c.650C>G (p.Ala217Gly) c.701C>G (p.Ala234Gly) c.680C>G (p.Ala227Gly) | |
10 | g.79557306G= | CA1922240728 | SFTPA2 | c.650C= (p.Ala217=) c.701C= (p.Ala234=) c.680C= (p.Ala227=) | |
10 | g.79557306G>T | CA377352797 | SFTPA2 | c.650C>A (p.Ala217Glu) c.701C>A (p.Ala234Glu) c.680C>A (p.Ala227Glu) | gnomAD v4 |
10 | g.79557307C>A | CA5573989 | SFTPA2 | c.649G>T (p.Ala217Ser) c.700G>T (p.Ala234Ser) c.679G>T (p.Ala227Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557307C= | CA1922240731 | SFTPA2 | c.649G= (p.Ala217=) c.700G= (p.Ala234=) c.679G= (p.Ala227=) | |
10 | g.79557307C>G | CA5573990 | SFTPA2 | c.649G>C (p.Ala217Pro) c.700G>C (p.Ala234Pro) c.679G>C (p.Ala227Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557307C>T | CA377352798 | SFTPA2 | c.649G>A (p.Ala217Thr) c.700G>A (p.Ala234Thr) c.679G>A (p.Ala227Thr) | gnomAD v4 |
10 | g.79557308A= | CA1922240740 | SFTPA2 | c.648T= (p.Pro216=) c.699T= (p.Pro233=) c.678T= (p.Pro226=) | |
10 | g.79557308A>C | CA210248127 | SFTPA2 | c.648T>G (p.Pro216=) c.699T>G (p.Pro233=) c.678T>G (p.Pro226=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557308A>G | CA5573991 | SFTPA2 | c.648T>C (p.Pro216=) c.699T>C (p.Pro233=) c.678T>C (p.Pro226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557308A>T | CA470414496 | SFTPA2 | c.648T>A (p.Pro216=) c.699T>A (p.Pro233=) c.678T>A (p.Pro226=) | |
10 | g.79557309G>A | CA377352799 | SFTPA2 | c.647C>T (p.Pro216Leu) c.698C>T (p.Pro233Leu) c.677C>T (p.Pro226Leu) | |
10 | g.79557309G>C | CA377352800 | SFTPA2 | c.647C>G (p.Pro216Arg) c.698C>G (p.Pro233Arg) c.677C>G (p.Pro226Arg) | |
10 | g.79557309G>T | CA377352801 | SFTPA2 | c.647C>A (p.Pro216His) c.698C>A (p.Pro233His) c.677C>A (p.Pro226His) | |
10 | g.79557310G>A | CA377352803 | SFTPA2 | c.646C>T (p.Pro216Ser) c.697C>T (p.Pro233Ser) c.676C>T (p.Pro226Ser) | gnomAD v4 |
10 | g.79557310G>C | CA377352804 | SFTPA2 | c.646C>G (p.Pro216Ala) c.697C>G (p.Pro233Ala) c.676C>G (p.Pro226Ala) | |
10 | g.79557310G>T | CA377352802 | SFTPA2 | c.646C>A (p.Pro216Thr) c.697C>A (p.Pro233Thr) c.676C>A (p.Pro226Thr) | |
10 | g.79557310_79557311insA | CA2788683859 | SFTPA2 | c.645_646insT (p.Pro216SerfsTer20) c.696_697insT (p.Pro233SerfsTer20) c.675_676insT (p.Pro226SerfsTer20) | |
10 | g.79557311C>A | CA377352805 | SFTPA2 | c.645G>T (p.Glu215Asp) c.696G>T (p.Glu232Asp) c.675G>T (p.Glu225Asp) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557311C= | CA1922240743 | SFTPA2 | c.645G= (p.Glu215=) c.696G= (p.Glu232=) c.675G= (p.Glu225=) | |
10 | g.79557311C>G | CA377352806 | SFTPA2 | c.645G>C (p.Glu215Asp) c.696G>C (p.Glu232Asp) c.675G>C (p.Glu225Asp) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557311C>T | CA470414497 | SFTPA2 | c.645G>A (p.Glu215=) c.696G>A (p.Glu232=) c.675G>A (p.Glu225=) | gnomAD v4 |
10 | g.79557312T>A | CA377352807 | SFTPA2 | c.644A>T (p.Glu215Val) c.695A>T (p.Glu232Val) c.674A>T (p.Glu225Val) | |
10 | g.79557312T>C | CA377352808 | SFTPA2 | c.644A>G (p.Glu215Gly) c.695A>G (p.Glu232Gly) c.674A>G (p.Glu225Gly) | |
10 | g.79557312T>G | CA377352809 | SFTPA2 | c.644A>C (p.Glu215Ala) c.695A>C (p.Glu232Ala) c.674A>C (p.Glu225Ala) | |
10 | g.79557313C>A | CA377352812 | SFTPA2 | c.643G>T (p.Glu215Ter) c.694G>T (p.Glu232Ter) c.673G>T (p.Glu225Ter) | |
10 | g.79557313C= | CA1922240746 | SFTPA2 | c.643G= (p.Glu215=) c.694G= (p.Glu232=) c.673G= (p.Glu225=) | |
10 | g.79557313C>G | CA377352810 | SFTPA2 | c.643G>C (p.Glu215Gln) c.694G>C (p.Glu232Gln) c.673G>C (p.Glu225Gln) | |
10 | g.79557313C>T | CA377352811 | SFTPA2 | c.643G>A (p.Glu215Lys) c.694G>A (p.Glu232Lys) c.673G>A (p.Glu225Lys) | dbSNP gnomAD v4 |
10 | g.79557314C>A | CA470414498 | SFTPA2 | c.642G>T (p.Gly214=) c.693G>T (p.Gly231=) c.672G>T (p.Gly224=) | |
10 | g.79557314C>G | CA470414499 | SFTPA2 | c.642G>C (p.Gly214=) c.693G>C (p.Gly231=) c.672G>C (p.Gly224=) | |
10 | g.79557314C>T | CA470414500 | SFTPA2 | c.642G>A (p.Gly214=) c.693G>A (p.Gly231=) c.672G>A (p.Gly224=) | |
10 | g.79557315C>A | CA377352813 | SFTPA2 | c.641G>T (p.Gly214Val) c.692G>T (p.Gly231Val) c.671G>T (p.Gly224Val) | |
10 | g.79557315C= | CA1922240749 | SFTPA2 | c.641G= (p.Gly214=) c.692G= (p.Gly231=) c.671G= (p.Gly224=) | |
10 | g.79557315C>G | CA377352814 | SFTPA2 | c.641G>C (p.Gly214Ala) c.692G>C (p.Gly231Ala) c.671G>C (p.Gly224Ala) | |
10 | g.79557315C>T | CA5573992 | SFTPA2 | c.641G>A (p.Gly214Glu) c.692G>A (p.Gly231Glu) c.671G>A (p.Gly224Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557316C>A | CA377352815 | SFTPA2 | c.640G>T (p.Gly214Trp) c.691G>T (p.Gly231Trp) c.670G>T (p.Gly224Trp) | |
10 | g.79557316C>G | CA377352816 | SFTPA2 | c.640G>C (p.Gly214Arg) c.691G>C (p.Gly231Arg) c.670G>C (p.Gly224Arg) | |
10 | g.79557316C>T | CA377352817 | SFTPA2 | c.640G>A (p.Gly214Arg) c.691G>A (p.Gly231Arg) c.670G>A (p.Gly224Arg) | |
10 | g.79557317T>A | CA210248152 | SFTPA2 | c.639A>T (p.Arg213=) c.690A>T (p.Arg230=) c.669A>T (p.Arg223=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557317T>C | CA470414501 | SFTPA2 | c.639A>G (p.Arg213=) c.690A>G (p.Arg230=) c.669A>G (p.Arg223=) | |
10 | g.79557317T>G | CA470414502 | SFTPA2 | c.639A>C (p.Arg213=) c.690A>C (p.Arg230=) c.669A>C (p.Arg223=) | |
10 | g.79557317T= | CA1922240752 | SFTPA2 | c.639A= (p.Arg213=) c.690A= (p.Arg230=) c.669A= (p.Arg223=) | |
10 | g.79557318C>A | CA5573993 | SFTPA2 | c.638G>T (p.Arg213Leu) c.689G>T (p.Arg230Leu) c.668G>T (p.Arg223Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.79557318C= | CA1922240757 | SFTPA2 | c.638G= (p.Arg213=) c.689G= (p.Arg230=) c.668G= (p.Arg223=) | |
10 | g.79557318C>G | CA377352819 | SFTPA2 | c.638G>C (p.Arg213Pro) c.689G>C (p.Arg230Pro) c.668G>C (p.Arg223Pro) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557318C>T | CA377352818 | SFTPA2 | c.638G>A (p.Arg213Gln) c.689G>A (p.Arg230Gln) c.668G>A (p.Arg223Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.79557319G>A | CA5573995 | SFTPA2 | c.637C>T (p.Arg213Ter) c.688C>T (p.Arg230Ter) c.667C>T (p.Arg223Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.79557319G>C | CA5573994 | SFTPA2 | c.637C>G (p.Arg213Gly) c.688C>G (p.Arg230Gly) c.667C>G (p.Arg223Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557319G= | CA1922240760 | SFTPA2 | c.637C= (p.Arg213=) c.688C= (p.Arg230=) c.667C= (p.Arg223=) | |
10 | g.79557319G>T | CA470414504 | SFTPA2 | c.637C>A (p.Arg213=) c.688C>A (p.Arg230=) c.667C>A (p.Arg223=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557320G>A | CA470414505 | SFTPA2 | c.636C>T (p.Tyr212=) c.687C>T (p.Tyr229=) c.666C>T (p.Tyr222=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557320G>C | CA377352821 | SFTPA2 | c.636C>G (p.Tyr212Ter) c.687C>G (p.Tyr229Ter) c.666C>G (p.Tyr222Ter) | gnomAD v4 |
10 | g.79557320G= | CA1922240764 | SFTPA2 | c.636C= (p.Tyr212=) c.687C= (p.Tyr229=) c.666C= (p.Tyr222=) | |
10 | g.79557320G>T | CA377352820 | SFTPA2 | c.636C>A (p.Tyr212Ter) c.687C>A (p.Tyr229Ter) c.666C>A (p.Tyr222Ter) | |
10 | g.79557321T>A | CA377352824 | SFTPA2 | c.635A>T (p.Tyr212Phe) c.686A>T (p.Tyr229Phe) c.665A>T (p.Tyr222Phe) | |
10 | g.79557321T>C | CA377352822 | SFTPA2 | c.635A>G (p.Tyr212Cys) c.686A>G (p.Tyr229Cys) c.665A>G (p.Tyr222Cys) | |
10 | g.79557321T>G | CA377352823 | SFTPA2 | c.635A>C (p.Tyr212Ser) c.686A>C (p.Tyr229Ser) c.665A>C (p.Tyr222Ser) | |
10 | g.79557322A>C | CA377352825 | SFTPA2 | c.634T>G (p.Tyr212Asp) c.685T>G (p.Tyr229Asp) c.664T>G (p.Tyr222Asp) | |
10 | g.79557322A>G | CA377352826 | SFTPA2 | c.634T>C (p.Tyr212His) c.685T>C (p.Tyr229His) c.664T>C (p.Tyr222His) | |
10 | g.79557322A>T | CA377352827 | SFTPA2 | c.634T>A (p.Tyr212Asn) c.685T>A (p.Tyr229Asn) c.664T>A (p.Tyr222Asn) | |
10 | g.79557323C>A | CA377352828 | SFTPA2 | c.633G>T (p.Trp211Cys) c.684G>T (p.Trp228Cys) c.663G>T (p.Trp221Cys) | |
10 | g.79557323C>G | CA377352829 | SFTPA2 | c.633G>C (p.Trp211Cys) c.684G>C (p.Trp228Cys) c.663G>C (p.Trp221Cys) | |
10 | g.79557323C>T | CA377352830 | SFTPA2 | c.633G>A (p.Trp211Ter) c.684G>A (p.Trp228Ter) c.663G>A (p.Trp221Ter) | |
10 | g.79557324C>A | CA377352831 | SFTPA2 | c.632G>T (p.Trp211Leu) c.683G>T (p.Trp228Leu) c.662G>T (p.Trp221Leu) | |
10 | g.79557324C= | CA1922240767 | SFTPA2 | c.632G= (p.Trp211=) c.683G= (p.Trp228=) c.662G= (p.Trp221=) | |
10 | g.79557324C>G | CA377352832 | SFTPA2 | c.632G>C (p.Trp211Ser) c.683G>C (p.Trp228Ser) c.662G>C (p.Trp221Ser) | |
10 | g.79557324C>T | CA377352833 | SFTPA2 | c.632G>A (p.Trp211Ter) c.683G>A (p.Trp228Ter) c.662G>A (p.Trp221Ter) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557325A>C | CA377352836 | SFTPA2 | c.631T>G (p.Trp211Gly) c.682T>G (p.Trp228Gly) c.661T>G (p.Trp221Gly) | |
10 | g.79557325A>G | CA377352835 | SFTPA2 | c.631T>C (p.Trp211Arg) c.682T>C (p.Trp228Arg) c.661T>C (p.Trp221Arg) | |
10 | g.79557325A>T | CA377352834 | SFTPA2 | c.631T>A (p.Trp211Arg) c.682T>A (p.Trp228Arg) c.661T>A (p.Trp221Arg) | |
10 | g.79557326G>A | CA210248179 | SFTPA2 | c.630C>T (p.Asn210=) c.681C>T (p.Asn227=) c.660C>T (p.Asn220=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557326G>C | CA377352837 | SFTPA2 | c.630C>G (p.Asn210Lys) c.681C>G (p.Asn227Lys) c.660C>G (p.Asn220Lys) | dbSNP |
10 | g.79557326G= | CA1922240771 | SFTPA2 | c.630C= (p.Asn210=) c.681C= (p.Asn227=) c.660C= (p.Asn220=) | |
10 | g.79557326G>T | CA377352838 | SFTPA2 | c.630C>A (p.Asn210Lys) c.681C>A (p.Asn227Lys) c.660C>A (p.Asn220Lys) | |
10 | g.79557327T>A | CA377352839 | SFTPA2 | c.629A>T (p.Asn210Ile) c.680A>T (p.Asn227Ile) c.659A>T (p.Asn220Ile) | |
10 | g.79557327T>C | CA5573996 | SFTPA2 | c.629A>G (p.Asn210Ser) c.680A>G (p.Asn227Ser) c.659A>G (p.Asn220Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557327T>G | CA377352840 | SFTPA2 | c.629A>C (p.Asn210Thr) c.680A>C (p.Asn227Thr) c.659A>C (p.Asn220Thr) | |
10 | g.79557327T= | CA1922240778 | SFTPA2 | c.629A= (p.Asn210=) c.680A= (p.Asn227=) c.659A= (p.Asn220=) | |
10 | g.79557328T>A | CA377352841 | SFTPA2 | c.628A>T (p.Asn210Tyr) c.679A>T (p.Asn227Tyr) c.658A>T (p.Asn220Tyr) | |
10 | g.79557328T>C | CA377352842 | SFTPA2 | c.628A>G (p.Asn210Asp) c.679A>G (p.Asn227Asp) c.658A>G (p.Asn220Asp) | |
10 | g.79557328T>G | CA377352843 | SFTPA2 | c.628A>C (p.Asn210His) c.679A>C (p.Asn227His) c.658A>C (p.Asn220His) | |
10 | g.79557329G>A | CA470414506 | SFTPA2 | c.627C>T (p.Thr209=) c.678C>T (p.Thr226=) c.657C>T (p.Thr219=) | |
10 | g.79557329G>C | CA470414507 | SFTPA2 | c.627C>G (p.Thr209=) c.678C>G (p.Thr226=) c.657C>G (p.Thr219=) | |
10 | g.79557329G>T | CA470414508 | SFTPA2 | c.627C>A (p.Thr209=) c.678C>A (p.Thr226=) c.657C>A (p.Thr219=) | |
10 | g.79557330G>A | CA377352844 | SFTPA2 | c.626C>T (p.Thr209Ile) c.677C>T (p.Thr226Ile) c.656C>T (p.Thr219Ile) | |
10 | g.79557330G>C | CA377352845 | SFTPA2 | c.626C>G (p.Thr209Ser) c.677C>G (p.Thr226Ser) c.656C>G (p.Thr219Ser) | gnomAD v4 |
10 | g.79557330G>T | CA377352846 | SFTPA2 | c.626C>A (p.Thr209Asn) c.677C>A (p.Thr226Asn) c.656C>A (p.Thr219Asn) | |
10 | g.79557331T>A | CA377352849 | SFTPA2 | c.625A>T (p.Thr209Ser) c.676A>T (p.Thr226Ser) c.655A>T (p.Thr219Ser) | |
10 | g.79557331T>C | CA377352848 | SFTPA2 | c.625A>G (p.Thr209Ala) c.676A>G (p.Thr226Ala) c.655A>G (p.Thr219Ala) | |
10 | g.79557331T>G | CA377352847 | SFTPA2 | c.625A>C (p.Thr209Pro) c.676A>C (p.Thr226Pro) c.655A>C (p.Thr219Pro) | |
10 | g.79557332G>A | CA5573997 | SFTPA2 | c.624C>T (p.Tyr208=) c.675C>T (p.Tyr225=) c.654C>T (p.Tyr218=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.79557332G>C | CA377352850 | SFTPA2 | c.624C>G (p.Tyr208Ter) c.675C>G (p.Tyr225Ter) c.654C>G (p.Tyr218Ter) | |
10 | g.79557332G= | CA1922240780 | SFTPA2 | c.624C= (p.Tyr208=) c.675C= (p.Tyr225=) c.654C= (p.Tyr218=) | |
10 | g.79557332G>T | CA377352851 | SFTPA2 | c.624C>A (p.Tyr208Ter) c.675C>A (p.Tyr225Ter) c.654C>A (p.Tyr218Ter) | |
10 | g.79557333T>A | CA377352852 | SFTPA2 | c.623A>T (p.Tyr208Phe) c.674A>T (p.Tyr225Phe) c.653A>T (p.Tyr218Phe) | |
10 | g.79557333T>C | CA377352853 | SFTPA2 | c.623A>G (p.Tyr208Cys) c.674A>G (p.Tyr225Cys) c.653A>G (p.Tyr218Cys) | |
10 | g.79557333T>G | CA377352854 | SFTPA2 | c.623A>C (p.Tyr208Ser) c.674A>C (p.Tyr225Ser) c.653A>C (p.Tyr218Ser) | |
10 | g.79557334A>C | CA377352855 | SFTPA2 | c.622T>G (p.Tyr208Asp) c.673T>G (p.Tyr225Asp) c.652T>G (p.Tyr218Asp) | |
10 | g.79557334A>G | CA377352856 | SFTPA2 | c.622T>C (p.Tyr208His) c.673T>C (p.Tyr225His) c.652T>C (p.Tyr218His) | |
10 | g.79557334A>T | CA377352857 | SFTPA2 | c.622T>A (p.Tyr208Asn) c.673T>A (p.Tyr225Asn) c.652T>A (p.Tyr218Asn) | |
10 | g.79557335G>A | CA470414509 | SFTPA2 | c.621C>T (p.Asn207=) c.672C>T (p.Asn224=) c.651C>T (p.Asn217=) | |
10 | g.79557335G>C | CA377352858 | SFTPA2 | c.621C>G (p.Asn207Lys) c.672C>G (p.Asn224Lys) c.651C>G (p.Asn217Lys) | |
10 | g.79557335G>T | CA377352859 | SFTPA2 | c.621C>A (p.Asn207Lys) c.672C>A (p.Asn224Lys) c.651C>A (p.Asn217Lys) | |
10 | g.79557336T>A | CA377352862 | SFTPA2 | c.620A>T (p.Asn207Ile) c.671A>T (p.Asn224Ile) c.650A>T (p.Asn217Ile) | |
10 | g.79557336T>C | CA377352861 | SFTPA2 | c.620A>G (p.Asn207Ser) c.671A>G (p.Asn224Ser) c.650A>G (p.Asn217Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557336T>G | CA377352860 | SFTPA2 | c.620A>C (p.Asn207Thr) c.671A>C (p.Asn224Thr) c.650A>C (p.Asn217Thr) | |
10 | g.79557336T= | CA1922240782 | SFTPA2 | c.620A= (p.Asn207=) c.671A= (p.Asn224=) c.650A= (p.Asn217=) | |
10 | g.79557337T>A | CA377352863 | SFTPA2 | c.619A>T (p.Asn207Tyr) c.670A>T (p.Asn224Tyr) c.649A>T (p.Asn217Tyr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557337T>C | CA377352864 | SFTPA2 | c.619A>G (p.Asn207Asp) c.670A>G (p.Asn224Asp) c.649A>G (p.Asn217Asp) | |
10 | g.79557337T>G | CA377352865 | SFTPA2 | c.619A>C (p.Asn207His) c.670A>C (p.Asn224His) c.649A>C (p.Asn217His) | gnomAD v4 |
10 | g.79557337T= | CA1922240785 | SFTPA2 | c.619A= (p.Asn207=) c.670A= (p.Asn224=) c.649A= (p.Asn217=) | |
10 | g.79557338T>A | CA470414510 | SFTPA2 | c.618A>T (p.Val206=) c.669A>T (p.Val223=) c.648A>T (p.Val216=) | |
10 | g.79557338T>C | CA5573998 | SFTPA2 | c.618A>G (p.Val206=) c.669A>G (p.Val223=) c.648A>G (p.Val216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557338T>G | CA470414511 | SFTPA2 | c.618A>C (p.Val206=) c.669A>C (p.Val223=) c.648A>C (p.Val216=) | |
10 | g.79557338T= | CA1922240787 | SFTPA2 | c.618A= (p.Val206=) c.669A= (p.Val223=) c.648A= (p.Val216=) | |
10 | g.79557339A>C | CA377352866 | SFTPA2 | c.617T>G (p.Val206Gly) c.668T>G (p.Val223Gly) c.647T>G (p.Val216Gly) | |
10 | g.79557339A>G | CA377352867 | SFTPA2 | c.617T>C (p.Val206Ala) c.668T>C (p.Val223Ala) c.647T>C (p.Val216Ala) | |
10 | g.79557339A>T | CA377352868 | SFTPA2 | c.617T>A (p.Val206Glu) c.668T>A (p.Val223Glu) c.647T>A (p.Val216Glu) | gnomAD v3 gnomAD v4 |
10 | g.79557340C>A | CA377352869 | SFTPA2 | c.616G>T (p.Val206Leu) c.667G>T (p.Val223Leu) c.646G>T (p.Val216Leu) | |
10 | g.79557340C>G | CA377352870 | SFTPA2 | c.616G>C (p.Val206Leu) c.667G>C (p.Val223Leu) c.646G>C (p.Val216Leu) | |
10 | g.79557340C>T | CA377352871 | SFTPA2 | c.616G>A (p.Val206Ile) c.667G>A (p.Val223Ile) c.646G>A (p.Val216Ile) | gnomAD v4 |
10 | g.79557341A>C | CA470414512 | SFTPA2 | c.615T>G (p.Pro205=) c.666T>G (p.Pro222=) c.645T>G (p.Pro215=) | |
10 | g.79557341A>G | CA470414514 | SFTPA2 | c.615T>C (p.Pro205=) c.666T>C (p.Pro222=) c.645T>C (p.Pro215=) | |
10 | g.79557341A>T | CA470414513 | SFTPA2 | c.615T>A (p.Pro205=) c.666T>A (p.Pro222=) c.645T>A (p.Pro215=) | |
10 | g.79557341_79557343delinsAGG | CA1922240792 | SFTPA2 | c.613_615delinsCCT (p.Pro205=) c.664_666delinsCCT (p.Pro222=) c.643_645delinsCCT (p.Pro215=) | |
10 | g.79557342G>A | CA377352872 | SFTPA2 | c.614C>T (p.Pro205Leu) c.665C>T (p.Pro222Leu) c.644C>T (p.Pro215Leu) | |
10 | g.79557342G>C | CA377352873 | SFTPA2 | c.614C>G (p.Pro205Arg) c.665C>G (p.Pro222Arg) c.644C>G (p.Pro215Arg) | |
10 | g.79557342G>T | CA377352874 | SFTPA2 | c.614C>A (p.Pro205His) c.665C>A (p.Pro222His) c.644C>A (p.Pro215His) | |
10 | g.79557344_79557345del | CA1922240796 | SFTPA2 | c.613_614del (p.Pro205CysfsTer30) c.664_665del (p.Pro222CysfsTer30) c.643_644del (p.Pro215CysfsTer30) | dbSNP |
10 | g.79557343G>A | CA377352876 | SFTPA2 | c.613C>T (p.Pro205Ser) c.664C>T (p.Pro222Ser) c.643C>T (p.Pro215Ser) | |
10 | g.79557343G>C | CA5573999 | SFTPA2 | c.613C>G (p.Pro205Ala) c.664C>G (p.Pro222Ala) c.643C>G (p.Pro215Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557343G= | CA1922240798 | SFTPA2 | c.613C= (p.Pro205=) c.664C= (p.Pro222=) c.643C= (p.Pro215=) | |
10 | g.79557343G>T | CA377352875 | SFTPA2 | c.613C>A (p.Pro205Thr) c.664C>A (p.Pro222Thr) c.643C>A (p.Pro215Thr) | |
10 | g.79557344G>A | CA470414515 | SFTPA2 | c.612C>T (p.Thr204=) c.663C>T (p.Thr221=) c.642C>T (p.Thr214=) | |
10 | g.79557344G>C | CA470414516 | SFTPA2 | c.612C>G (p.Thr204=) c.663C>G (p.Thr221=) c.642C>G (p.Thr214=) | |
10 | g.79557344G>T | CA470414517 | SFTPA2 | c.612C>A (p.Thr204=) c.663C>A (p.Thr221=) c.642C>A (p.Thr214=) | |
10 | g.79557345G>A | CA377352879 | SFTPA2 | c.611C>T (p.Thr204Ile) c.662C>T (p.Thr221Ile) c.641C>T (p.Thr214Ile) | |
10 | g.79557345G>C | CA377352877 | SFTPA2 | c.611C>G (p.Thr204Ser) c.662C>G (p.Thr221Ser) c.641C>G (p.Thr214Ser) | |
10 | g.79557345G>T | CA377352878 | SFTPA2 | c.611C>A (p.Thr204Asn) c.662C>A (p.Thr221Asn) c.641C>A (p.Thr214Asn) | |
10 | g.79557346T>A | CA377352880 | SFTPA2 | c.610A>T (p.Thr204Ser) c.661A>T (p.Thr221Ser) c.640A>T (p.Thr214Ser) | |
10 | g.79557346T>C | CA377352881 | SFTPA2 | c.610A>G (p.Thr204Ala) c.661A>G (p.Thr221Ala) c.640A>G (p.Thr214Ala) | gnomAD v4 |
10 | g.79557346T>G | CA377352882 | SFTPA2 | c.610A>C (p.Thr204Pro) c.661A>C (p.Thr221Pro) c.640A>C (p.Thr214Pro) | gnomAD v4 |
10 | g.79557347C>A | CA470414518 | SFTPA2 | c.609G>T (p.Gly203=) c.660G>T (p.Gly220=) c.639G>T (p.Gly213=) | |
10 | g.79557347C>G | CA470414519 | SFTPA2 | c.609G>C (p.Gly203=) c.660G>C (p.Gly220=) c.639G>C (p.Gly213=) | |
10 | g.79557347C>T | CA470414520 | SFTPA2 | c.609G>A (p.Gly203=) c.660G>A (p.Gly220=) c.639G>A (p.Gly213=) | gnomAD v4 |
10 | g.79557348C>A | CA377352884 | SFTPA2 | c.608G>T (p.Gly203Val) c.659G>T (p.Gly220Val) c.638G>T (p.Gly213Val) | |
10 | g.79557348C= | CA1922240806 | SFTPA2 | c.608G= (p.Gly203=) c.659G= (p.Gly220=) c.638G= (p.Gly213=) | |
10 | g.79557348C>G | CA377352883 | SFTPA2 | c.608G>C (p.Gly203Ala) c.659G>C (p.Gly220Ala) c.638G>C (p.Gly213Ala) | |
10 | g.79557348C>T | CA5574000 | SFTPA2 | c.608G>A (p.Gly203Glu) c.659G>A (p.Gly220Glu) c.638G>A (p.Gly213Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557349C>A | CA377352885 | SFTPA2 | c.607G>T (p.Gly203Trp) c.658G>T (p.Gly220Trp) c.637G>T (p.Gly213Trp) | |
10 | g.79557349C>G | CA377352886 | SFTPA2 | c.607G>C (p.Gly203Arg) c.658G>C (p.Gly220Arg) c.637G>C (p.Gly213Arg) | |
10 | g.79557349C>T | CA377352887 | SFTPA2 | c.607G>A (p.Gly203Arg) c.658G>A (p.Gly220Arg) c.637G>A (p.Gly213Arg) | |
10 | g.79557350A= | CA1922240811 | SFTPA2 | c.606T= (p.Asp202=) c.657T= (p.Asp219=) c.636T= (p.Asp212=) | |
10 | g.79557350A>C | CA377352888 | SFTPA2 | c.606T>G (p.Asp202Glu) c.657T>G (p.Asp219Glu) c.636T>G (p.Asp212Glu) | gnomAD v4 |
10 | g.79557350A>G | CA5574001 | SFTPA2 | c.606T>C (p.Asp202=) c.657T>C (p.Asp219=) c.636T>C (p.Asp212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557350A>T | CA377352889 | SFTPA2 | c.606T>A (p.Asp202Glu) c.657T>A (p.Asp219Glu) c.636T>A (p.Asp212Glu) | gnomAD v4 |
10 | g.79557351T>A | CA377352890 | SFTPA2 | c.605A>T (p.Asp202Val) c.656A>T (p.Asp219Val) c.635A>T (p.Asp212Val) | |
10 | g.79557351T>C | CA377352892 | SFTPA2 | c.605A>G (p.Asp202Gly) c.656A>G (p.Asp219Gly) c.635A>G (p.Asp212Gly) | gnomAD v4 |
10 | g.79557351T>G | CA377352891 | SFTPA2 | c.605A>C (p.Asp202Ala) c.656A>C (p.Asp219Ala) c.635A>C (p.Asp212Ala) | gnomAD v4 |
10 | g.79557352C>A | CA377352893 | SFTPA2 | c.604G>T (p.Asp202Tyr) c.655G>T (p.Asp219Tyr) c.634G>T (p.Asp212Tyr) | gnomAD v4 |
10 | g.79557352C>G | CA377352894 | SFTPA2 | c.604G>C (p.Asp202His) c.655G>C (p.Asp219His) c.634G>C (p.Asp212His) | |
10 | g.79557352C>T | CA377352895 | SFTPA2 | c.604G>A (p.Asp202Asn) c.655G>A (p.Asp219Asn) c.634G>A (p.Asp212Asn) | gnomAD v4 |
10 | g.79557353T>A | CA470414521 | SFTPA2 | c.603A>T (p.Ser201=) c.654A>T (p.Ser218=) c.633A>T (p.Ser211=) | |
10 | g.79557353T>C | CA470414522 | SFTPA2 | c.603A>G (p.Ser201=) c.654A>G (p.Ser218=) c.633A>G (p.Ser211=) | gnomAD v4 |
10 | g.79557353T>G | CA470414523 | SFTPA2 | c.603A>C (p.Ser201=) c.654A>C (p.Ser218=) c.633A>C (p.Ser211=) |