Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.79557207T>C | CA668801811 | SFTPA2 | c.*2A>G (n.*2A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557207T>G | CA2788683858 | SFTPA2 | c.*2A>C (n.*2A>C) | |
10 | g.79557207T= | CA1922240563 | SFTPA2 | c.*2A= (n.*2A=) | |
10 | g.79557209T>A | CA377352583 | SFTPA2 | c.747A>T (p.Ter249Cys) c.798A>T (p.Ter266Cys) c.777A>T (p.Ter259Cys) | |
10 | g.79557209T>C | CA377352584 | SFTPA2 | c.747A>G (p.Ter249Trp) c.798A>G (p.Ter266Trp) c.777A>G (p.Ter259Trp) | |
10 | g.79557209T>G | CA377352585 | SFTPA2 | c.747A>C (p.Ter249Cys) c.798A>C (p.Ter266Cys) c.777A>C (p.Ter259Cys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557209T= | CA1922240564 | SFTPA2 | c.747A= (p.Ter249=) c.798A= (p.Ter266=) c.777A= (p.Ter259=) | |
10 | g.79557210C>A | CA377352586 | SFTPA2 | c.746G>T (p.Ter249Leu) c.797G>T (p.Ter266Leu) c.776G>T (p.Ter259Leu) | |
10 | g.79557210C>G | CA377352587 | SFTPA2 | c.746G>C (p.Ter249Ser) c.797G>C (p.Ter266Ser) c.776G>C (p.Ter259Ser) | |
10 | g.79557210C>T | CA470414435 | SFTPA2 | c.746G>A (p.Ter249=) c.797G>A (p.Ter266=) c.776G>A (p.Ter259=) | |
10 | g.79557211A= | CA1922240567 | SFTPA2 | c.745T= (p.Ter249=) c.796T= (p.Ter266=) c.775T= (p.Ter259=) | |
10 | g.79557211A>C | CA377352589 | SFTPA2 | c.745T>G (p.Ter249Gly) c.796T>G (p.Ter266Gly) c.775T>G (p.Ter259Gly) | gnomAD v4 |
10 | g.79557211A>G | CA210248021 | SFTPA2 | c.745T>C (p.Ter249Arg) c.796T>C (p.Ter266Arg) c.775T>C (p.Ter259Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557211A>T | CA377352588 | SFTPA2 | c.745T>A (p.Ter249Arg) c.796T>A (p.Ter266Arg) c.775T>A (p.Ter259Arg) | |
10 | g.79557212G>A | CA470414436 | SFTPA2 | c.744C>T (p.Phe248=) c.795C>T (p.Phe265=) c.774C>T (p.Phe258=) | |
10 | g.79557212G>C | CA377352591 | SFTPA2 | c.744C>G (p.Phe248Leu) c.795C>G (p.Phe265Leu) c.774C>G (p.Phe258Leu) | |
10 | g.79557212G>T | CA377352590 | SFTPA2 | c.744C>A (p.Phe248Leu) c.795C>A (p.Phe265Leu) c.774C>A (p.Phe258Leu) | COSMIC |
10 | g.79557213A>C | CA377352593 | SFTPA2 | c.743T>G (p.Phe248Cys) c.794T>G (p.Phe265Cys) c.773T>G (p.Phe258Cys) | gnomAD v4 |
10 | g.79557213A>G | CA377352592 | SFTPA2 | c.743T>C (p.Phe248Ser) c.794T>C (p.Phe265Ser) c.773T>C (p.Phe258Ser) | |
10 | g.79557213A>T | CA377352594 | SFTPA2 | c.743T>A (p.Phe248Tyr) c.794T>A (p.Phe265Tyr) c.773T>A (p.Phe258Tyr) | |
10 | g.79557214A>C | CA377352595 | SFTPA2 | c.742T>G (p.Phe248Val) c.793T>G (p.Phe265Val) c.772T>G (p.Phe258Val) | |
10 | g.79557214A>G | CA377352597 | SFTPA2 | c.742T>C (p.Phe248Leu) c.793T>C (p.Phe265Leu) c.772T>C (p.Phe258Leu) | |
10 | g.79557214A>T | CA377352596 | SFTPA2 | c.742T>A (p.Phe248Ile) c.793T>A (p.Phe265Ile) c.772T>A (p.Phe258Ile) | gnomAD v4 |
10 | g.79557215C>A | CA377352598 | SFTPA2 | c.741G>T (p.Glu247Asp) c.792G>T (p.Glu264Asp) c.771G>T (p.Glu257Asp) | |
10 | g.79557215C>G | CA377352599 | SFTPA2 | c.741G>C (p.Glu247Asp) c.792G>C (p.Glu264Asp) c.771G>C (p.Glu257Asp) | |
10 | g.79557215C>T | CA470414437 | SFTPA2 | c.741G>A (p.Glu247=) c.792G>A (p.Glu264=) c.771G>A (p.Glu257=) | |
10 | g.79557216T>A | CA377352600 | SFTPA2 | c.740A>T (p.Glu247Val) c.791A>T (p.Glu264Val) c.770A>T (p.Glu257Val) | |
10 | g.79557216T>C | CA377352601 | SFTPA2 | c.740A>G (p.Glu247Gly) c.791A>G (p.Glu264Gly) c.770A>G (p.Glu257Gly) | |
10 | g.79557216T>G | CA377352602 | SFTPA2 | c.740A>C (p.Glu247Ala) c.791A>C (p.Glu264Ala) c.770A>C (p.Glu257Ala) | |
10 | g.79557217C>A | CA377352603 | SFTPA2 | c.739G>T (p.Glu247Ter) c.790G>T (p.Glu264Ter) c.769G>T (p.Glu257Ter) | |
10 | g.79557217C>G | CA377352604 | SFTPA2 | c.739G>C (p.Glu247Gln) c.790G>C (p.Glu264Gln) c.769G>C (p.Glu257Gln) | |
10 | g.79557217C>T | CA377352605 | SFTPA2 | c.739G>A (p.Glu247Lys) c.790G>A (p.Glu264Lys) c.769G>A (p.Glu257Lys) | |
10 | g.79557218A>C | CA377352606 | SFTPA2 | c.738T>G (p.Cys246Trp) c.789T>G (p.Cys263Trp) c.768T>G (p.Cys256Trp) | |
10 | g.79557218A>G | CA470414438 | SFTPA2 | c.738T>C (p.Cys246=) c.789T>C (p.Cys263=) c.768T>C (p.Cys256=) | |
10 | g.79557218A>T | CA377352607 | SFTPA2 | c.738T>A (p.Cys246Ter) c.789T>A (p.Cys263Ter) c.768T>A (p.Cys256Ter) | gnomAD v4 |
10 | g.79557219C>A | CA377352608 | SFTPA2 | c.737G>T (p.Cys246Phe) c.788G>T (p.Cys263Phe) c.767G>T (p.Cys256Phe) | |
10 | g.79557219C>G | CA377352609 | SFTPA2 | c.737G>C (p.Cys246Ser) c.788G>C (p.Cys263Ser) c.767G>C (p.Cys256Ser) | gnomAD v4 |
10 | g.79557219C>T | CA377352610 | SFTPA2 | c.737G>A (p.Cys246Tyr) c.788G>A (p.Cys263Tyr) c.767G>A (p.Cys256Tyr) | |
10 | g.79557220A>C | CA377352613 | SFTPA2 | c.736T>G (p.Cys246Gly) c.787T>G (p.Cys263Gly) c.766T>G (p.Cys256Gly) | |
10 | g.79557220A>G | CA377352611 | SFTPA2 | c.736T>C (p.Cys246Arg) c.787T>C (p.Cys263Arg) c.766T>C (p.Cys256Arg) | gnomAD v4 |
10 | g.79557220A>T | CA377352612 | SFTPA2 | c.736T>A (p.Cys246Ser) c.787T>A (p.Cys263Ser) c.766T>A (p.Cys256Ser) | gnomAD v4 |
10 | g.79557221G>A | CA470414439 | SFTPA2 | c.735C>T (p.Ile245=) c.786C>T (p.Ile262=) c.765C>T (p.Ile255=) | |
10 | g.79557221G>C | CA377352614 | SFTPA2 | c.735C>G (p.Ile245Met) c.786C>G (p.Ile262Met) c.765C>G (p.Ile255Met) | |
10 | g.79557221G>T | CA470414440 | SFTPA2 | c.735C>A (p.Ile245=) c.786C>A (p.Ile262=) c.765C>A (p.Ile255=) | |
10 | g.79557222A= | CA1922240571 | SFTPA2 | c.734T= (p.Ile245=) c.785T= (p.Ile262=) c.764T= (p.Ile255=) | |
10 | g.79557222A>C | CA377352615 | SFTPA2 | c.734T>G (p.Ile245Ser) c.785T>G (p.Ile262Ser) c.764T>G (p.Ile255Ser) | |
10 | g.79557222A>G | CA5573971 | SFTPA2 | c.734T>C (p.Ile245Thr) c.785T>C (p.Ile262Thr) c.764T>C (p.Ile255Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557222A>T | CA377352616 | SFTPA2 | c.734T>A (p.Ile245Asn) c.785T>A (p.Ile262Asn) c.764T>A (p.Ile255Asn) | |
10 | g.79557223T>A | CA377352617 | SFTPA2 | c.733A>T (p.Ile245Phe) c.784A>T (p.Ile262Phe) c.763A>T (p.Ile255Phe) | |
10 | g.79557223T>C | CA377352618 | SFTPA2 | c.733A>G (p.Ile245Val) c.784A>G (p.Ile262Val) c.763A>G (p.Ile255Val) | ClinVar gnomAD v4 |
10 | g.79557223T>G | CA377352619 | SFTPA2 | c.733A>C (p.Ile245Leu) c.784A>C (p.Ile262Leu) c.763A>C (p.Ile255Leu) | |
10 | g.79557224G>A | CA470414441 | SFTPA2 | c.732C>T (p.Thr244=) c.783C>T (p.Thr261=) c.762C>T (p.Thr254=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557224G>C | CA470414442 | SFTPA2 | c.732C>G (p.Thr244=) c.783C>G (p.Thr261=) c.762C>G (p.Thr254=) | |
10 | g.79557224G= | CA1922240577 | SFTPA2 | c.732C= (p.Thr244=) c.783C= (p.Thr261=) c.762C= (p.Thr254=) | |
10 | g.79557224G>T | CA470414443 | SFTPA2 | c.732C>A (p.Thr244=) c.783C>A (p.Thr261=) c.762C>A (p.Thr254=) | |
10 | g.79557225G>A | CA5573972 | SFTPA2 | c.731C>T (p.Thr244Ile) c.782C>T (p.Thr261Ile) c.761C>T (p.Thr254Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557225G>C | CA377352620 | SFTPA2 | c.731C>G (p.Thr244Ser) c.782C>G (p.Thr261Ser) c.761C>G (p.Thr254Ser) | |
10 | g.79557225G= | CA1922240583 | SFTPA2 | c.731C= (p.Thr244=) c.782C= (p.Thr261=) c.761C= (p.Thr254=) | |
10 | g.79557225G>T | CA377352621 | SFTPA2 | c.731C>A (p.Thr244Asn) c.782C>A (p.Thr261Asn) c.761C>A (p.Thr254Asn) | |
10 | g.79557226T>A | CA377352622 | SFTPA2 | c.730A>T (p.Thr244Ser) c.781A>T (p.Thr261Ser) c.760A>T (p.Thr254Ser) | |
10 | g.79557226T>C | CA377352623 | SFTPA2 | c.730A>G (p.Thr244Ala) c.781A>G (p.Thr261Ala) c.760A>G (p.Thr254Ala) | gnomAD v4 |
10 | g.79557226T>G | CA210248035 | SFTPA2 | c.730A>C (p.Thr244Pro) c.781A>C (p.Thr261Pro) c.760A>C (p.Thr254Pro) | dbSNP |
10 | g.79557226T= | CA1922240587 | SFTPA2 | c.730A= (p.Thr244=) c.781A= (p.Thr261=) c.760A= (p.Thr254=) | |
10 | g.79557227C>A | CA470414444 | SFTPA2 | c.729G>T (p.Leu243=) c.780G>T (p.Leu260=) c.759G>T (p.Leu253=) | |
10 | g.79557227C>G | CA470414445 | SFTPA2 | c.729G>C (p.Leu243=) c.780G>C (p.Leu260=) c.759G>C (p.Leu253=) | |
10 | g.79557227C>T | CA470414446 | SFTPA2 | c.729G>A (p.Leu243=) c.780G>A (p.Leu260=) c.759G>A (p.Leu253=) | |
10 | g.79557228A= | CA1922240589 | SFTPA2 | c.728T= (p.Leu243=) c.779T= (p.Leu260=) c.758T= (p.Leu253=) | |
10 | g.79557228A>C | CA377352624 | SFTPA2 | c.728T>G (p.Leu243Arg) c.779T>G (p.Leu260Arg) c.758T>G (p.Leu253Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557228A>G | CA377352625 | SFTPA2 | c.728T>C (p.Leu243Pro) c.779T>C (p.Leu260Pro) c.758T>C (p.Leu253Pro) | |
10 | g.79557228A>T | CA377352626 | SFTPA2 | c.728T>A (p.Leu243Gln) c.779T>A (p.Leu260Gln) c.758T>A (p.Leu253Gln) | |
10 | g.79557229G>A | CA470414447 | SFTPA2 | c.727C>T (p.Leu243=) c.778C>T (p.Leu260=) c.757C>T (p.Leu253=) | dbSNP gnomAD v4 |
10 | g.79557229G>C | CA377352627 | SFTPA2 | c.727C>G (p.Leu243Val) c.778C>G (p.Leu260Val) c.757C>G (p.Leu253Val) | |
10 | g.79557229G= | CA1922240591 | SFTPA2 | c.727C= (p.Leu243=) c.778C= (p.Leu260=) c.757C= (p.Leu253=) | |
10 | g.79557229G>T | CA377352628 | SFTPA2 | c.727C>A (p.Leu243Met) c.778C>A (p.Leu260Met) c.757C>A (p.Leu253Met) | gnomAD v4 |
10 | g.79557230T>A | CA470414448 | SFTPA2 | c.726A>T (p.Arg242=) c.777A>T (p.Arg259=) c.756A>T (p.Arg252=) | |
10 | g.79557230T>C | CA470414449 | SFTPA2 | c.726A>G (p.Arg242=) c.777A>G (p.Arg259=) c.756A>G (p.Arg252=) | |
10 | g.79557230T>G | CA470414450 | SFTPA2 | c.726A>C (p.Arg242=) c.777A>C (p.Arg259=) c.756A>C (p.Arg252=) | |
10 | g.79557231C>A | CA377352630 | SFTPA2 | c.725G>T (p.Arg242Leu) c.776G>T (p.Arg259Leu) c.755G>T (p.Arg252Leu) | |
10 | g.79557231C= | CA1922240595 | SFTPA2 | c.725G= (p.Arg242=) c.776G= (p.Arg259=) c.755G= (p.Arg252=) | |
10 | g.79557231C>G | CA377352629 | SFTPA2 | c.725G>C (p.Arg242Pro) c.776G>C (p.Arg259Pro) c.755G>C (p.Arg252Pro) | |
10 | g.79557231C>T | CA5573973 | SFTPA2 | c.725G>A (p.Arg242Gln) c.776G>A (p.Arg259Gln) c.755G>A (p.Arg252Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.79557232G>A | CA5573975 | SFTPA2 | c.724C>T (p.Arg242Ter) c.775C>T (p.Arg259Ter) c.754C>T (p.Arg252Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557232G>C | CA5573974 | SFTPA2 | c.724C>G (p.Arg242Gly) c.775C>G (p.Arg259Gly) c.754C>G (p.Arg252Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557232G= | CA1922240600 | SFTPA2 | c.724C= (p.Arg242=) c.775C= (p.Arg259=) c.754C= (p.Arg252=) | |
10 | g.79557232G>T | CA470414451 | SFTPA2 | c.724C>A (p.Arg242=) c.775C>A (p.Arg259=) c.754C>A (p.Arg252=) | |
10 | g.79557233G>A | CA470414452 | SFTPA2 | c.723C>T (p.Ser241=) c.774C>T (p.Ser258=) c.753C>T (p.Ser251=) | gnomAD v4 |
10 | g.79557233G>C | CA470414454 | SFTPA2 | c.723C>G (p.Ser241=) c.774C>G (p.Ser258=) c.753C>G (p.Ser251=) | |
10 | g.79557233G>T | CA470414453 | SFTPA2 | c.723C>A (p.Ser241=) c.774C>A (p.Ser258=) c.753C>A (p.Ser251=) | |
10 | g.79557234G>A | CA377352631 | SFTPA2 | c.722C>T (p.Ser241Phe) c.773C>T (p.Ser258Phe) c.752C>T (p.Ser251Phe) | |
10 | g.79557234G>C | CA377352632 | SFTPA2 | c.722C>G (p.Ser241Cys) c.773C>G (p.Ser258Cys) c.752C>G (p.Ser251Cys) | |
10 | g.79557234G= | CA1922240603 | SFTPA2 | c.722C= (p.Ser241=) c.773C= (p.Ser258=) c.752C= (p.Ser251=) | |
10 | g.79557234G>T | CA5573976 | SFTPA2 | c.722C>A (p.Ser241Tyr) c.773C>A (p.Ser258Tyr) c.752C>A (p.Ser251Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557235A>C | CA377352633 | SFTPA2 | c.721T>G (p.Ser241Ala) c.772T>G (p.Ser258Ala) c.751T>G (p.Ser251Ala) | |
10 | g.79557235A>G | CA377352635 | SFTPA2 | c.721T>C (p.Ser241Pro) c.772T>C (p.Ser258Pro) c.751T>C (p.Ser251Pro) | |
10 | g.79557235A>T | CA377352634 | SFTPA2 | c.721T>A (p.Ser241Thr) c.772T>A (p.Ser258Thr) c.751T>A (p.Ser251Thr) | |
10 | g.79557236_79557238del | CA2740093041 | SFTPA2 | c.719_721del (p.Tyr240del) c.770_772del (p.Tyr257del) c.749_751del (p.Tyr250del) | ClinVar |
10 | g.79557236G>A | CA470414455 | SFTPA2 | c.720C>T (p.Tyr240=) c.771C>T (p.Tyr257=) c.750C>T (p.Tyr250=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557236G>C | CA377352636 | SFTPA2 | c.720C>G (p.Tyr240Ter) c.771C>G (p.Tyr257Ter) c.750C>G (p.Tyr250Ter) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557236G= | CA1922240606 | SFTPA2 | c.720C= (p.Tyr240=) c.771C= (p.Tyr257=) c.750C= (p.Tyr250=) | |
10 | g.79557236G>T | CA377352637 | SFTPA2 | c.720C>A (p.Tyr240Ter) c.771C>A (p.Tyr257Ter) c.750C>A (p.Tyr250Ter) | |
10 | g.79557237T>A | CA377352638 | SFTPA2 | c.719A>T (p.Tyr240Phe) c.770A>T (p.Tyr257Phe) c.749A>T (p.Tyr250Phe) | |
10 | g.79557237T>C | CA377352639 | SFTPA2 | c.719A>G (p.Tyr240Cys) c.770A>G (p.Tyr257Cys) c.749A>G (p.Tyr250Cys) | |
10 | g.79557237T>G | CA377352640 | SFTPA2 | c.719A>C (p.Tyr240Ser) c.770A>C (p.Tyr257Ser) c.749A>C (p.Tyr250Ser) | |
10 | g.79557238A>C | CA377352641 | SFTPA2 | c.718T>G (p.Tyr240Asp) c.769T>G (p.Tyr257Asp) c.748T>G (p.Tyr250Asp) | |
10 | g.79557238A>G | CA377352642 | SFTPA2 | c.718T>C (p.Tyr240His) c.769T>C (p.Tyr257His) c.748T>C (p.Tyr250His) | gnomAD v4 |
10 | g.79557238A>T | CA377352643 | SFTPA2 | c.718T>A (p.Tyr240Asn) c.769T>A (p.Tyr257Asn) c.748T>A (p.Tyr250Asn) | |
10 | g.79557239C>A | CA470414456 | SFTPA2 | c.717G>T (p.Leu239=) c.768G>T (p.Leu256=) c.747G>T (p.Leu249=) | |
10 | g.79557239C= | CA1922240608 | SFTPA2 | c.717G= (p.Leu239=) c.768G= (p.Leu256=) c.747G= (p.Leu249=) | |
10 | g.79557239C>G | CA470414457 | SFTPA2 | c.717G>C (p.Leu239=) c.768G>C (p.Leu256=) c.747G>C (p.Leu249=) | |
10 | g.79557239C>T | CA5573977 | SFTPA2 | c.717G>A (p.Leu239=) c.768G>A (p.Leu256=) c.747G>A (p.Leu249=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557240A>C | CA377352644 | SFTPA2 | c.716T>G (p.Leu239Arg) c.767T>G (p.Leu256Arg) c.746T>G (p.Leu249Arg) | |
10 | g.79557240A>G | CA377352645 | SFTPA2 | c.716T>C (p.Leu239Pro) c.767T>C (p.Leu256Pro) c.746T>C (p.Leu249Pro) | |
10 | g.79557240A>T | CA377352646 | SFTPA2 | c.716T>A (p.Leu239Gln) c.767T>A (p.Leu256Gln) c.746T>A (p.Leu249Gln) | |
10 | g.79557241G>A | CA470414458 | SFTPA2 | c.715C>T (p.Leu239=) c.766C>T (p.Leu256=) c.745C>T (p.Leu249=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557241G>C | CA377352647 | SFTPA2 | c.715C>G (p.Leu239Val) c.766C>G (p.Leu256Val) c.745C>G (p.Leu249Val) | dbSNP |
10 | g.79557241G= | CA1922240612 | SFTPA2 | c.715C= (p.Leu239=) c.766C= (p.Leu256=) c.745C= (p.Leu249=) | |
10 | g.79557241G>T | CA377352648 | SFTPA2 | c.715C>A (p.Leu239Met) c.766C>A (p.Leu256Met) c.745C>A (p.Leu249Met) | |
10 | g.79557242G>A | CA470414459 | SFTPA2 | c.714C>T (p.Cys238=) c.765C>T (p.Cys255=) c.744C>T (p.Cys248=) | dbSNP gnomAD v4 |
10 | g.79557242G>C | CA377352649 | SFTPA2 | c.714C>G (p.Cys238Trp) c.765C>G (p.Cys255Trp) c.744C>G (p.Cys248Trp) | dbSNP |
10 | g.79557242G= | CA1922240614 | SFTPA2 | c.714C= (p.Cys238=) c.765C= (p.Cys255=) c.744C= (p.Cys248=) | |
10 | g.79557242G>T | CA377352650 | SFTPA2 | c.714C>A (p.Cys238Ter) c.765C>A (p.Cys255Ter) c.744C>A (p.Cys248Ter) | |
10 | g.79557243C>A | CA377352651 | SFTPA2 | c.713G>T (p.Cys238Phe) c.764G>T (p.Cys255Phe) c.743G>T (p.Cys248Phe) | dbSNP gnomAD v4 |
10 | g.79557243C= | CA1922240616 | SFTPA2 | c.713G= (p.Cys238=) c.764G= (p.Cys255=) c.743G= (p.Cys248=) | |
10 | g.79557243C>G | CA377352652 | SFTPA2 | c.713G>C (p.Cys238Ser) c.764G>C (p.Cys255Ser) c.743G>C (p.Cys248Ser) | |
10 | g.79557243C>T | CA377352653 | SFTPA2 | c.713G>A (p.Cys238Tyr) c.764G>A (p.Cys255Tyr) c.743G>A (p.Cys248Tyr) | |
10 | g.79557244A>C | CA377352654 | SFTPA2 | c.712T>G (p.Cys238Gly) c.763T>G (p.Cys255Gly) c.742T>G (p.Cys248Gly) | |
10 | g.79557244A>G | CA377352655 | SFTPA2 | c.712T>C (p.Cys238Arg) c.763T>C (p.Cys255Arg) c.742T>C (p.Cys248Arg) | |
10 | g.79557244A>T | CA377352656 | SFTPA2 | c.712T>A (p.Cys238Ser) c.763T>A (p.Cys255Ser) c.742T>A (p.Cys248Ser) | |
10 | g.79557245G>A | CA470414460 | SFTPA2 | c.711C>T (p.Asn237=) c.762C>T (p.Asn254=) c.741C>T (p.Asn247=) | dbSNP gnomAD v4 |
10 | g.79557245G>C | CA377352657 | SFTPA2 | c.711C>G (p.Asn237Lys) c.762C>G (p.Asn254Lys) c.741C>G (p.Asn247Lys) | |
10 | g.79557245G= | CA1922240618 | SFTPA2 | c.711C= (p.Asn237=) c.762C= (p.Asn254=) c.741C= (p.Asn247=) | |
10 | g.79557245G>T | CA377352658 | SFTPA2 | c.711C>A (p.Asn237Lys) c.762C>A (p.Asn254Lys) c.741C>A (p.Asn247Lys) | |
10 | g.79557246T>A | CA377352659 | SFTPA2 | c.710A>T (p.Asn237Ile) c.761A>T (p.Asn254Ile) c.740A>T (p.Asn247Ile) | |
10 | g.79557246T>C | CA377352660 | SFTPA2 | c.710A>G (p.Asn237Ser) c.761A>G (p.Asn254Ser) c.740A>G (p.Asn247Ser) | dbSNP |
10 | g.79557246T>G | CA377352661 | SFTPA2 | c.710A>C (p.Asn237Thr) c.761A>C (p.Asn254Thr) c.740A>C (p.Asn247Thr) | |
10 | g.79557246T= | CA1922240622 | SFTPA2 | c.710A= (p.Asn237=) c.761A= (p.Asn254=) c.740A= (p.Asn247=) | |
10 | g.79557247T>A | CA377352664 | SFTPA2 | c.709A>T (p.Asn237Tyr) c.760A>T (p.Asn254Tyr) c.739A>T (p.Asn247Tyr) | |
10 | g.79557247T>C | CA377352663 | SFTPA2 | c.709A>G (p.Asn237Asp) c.760A>G (p.Asn254Asp) c.739A>G (p.Asn247Asp) | |
10 | g.79557247T>G | CA377352662 | SFTPA2 | c.709A>C (p.Asn237His) c.760A>C (p.Asn254His) c.739A>C (p.Asn247His) | |
10 | g.79557248C>A | CA377352665 | SFTPA2 | c.708G>T (p.Arg236Ser) c.759G>T (p.Arg253Ser) c.738G>T (p.Arg246Ser) | gnomAD v4 |
10 | g.79557248C>G | CA377352666 | SFTPA2 | c.708G>C (p.Arg236Ser) c.759G>C (p.Arg253Ser) c.738G>C (p.Arg246Ser) | |
10 | g.79557248C>T | CA470414461 | SFTPA2 | c.708G>A (p.Arg236=) c.759G>A (p.Arg253=) c.738G>A (p.Arg246=) | |
10 | g.79557249C>A | CA377352667 | SFTPA2 | c.707G>T (p.Arg236Met) c.758G>T (p.Arg253Met) c.737G>T (p.Arg246Met) | |
10 | g.79557249C= | CA1922240624 | SFTPA2 | c.707G= (p.Arg236=) c.758G= (p.Arg253=) c.737G= (p.Arg246=) | |
10 | g.79557249C>G | CA377352668 | SFTPA2 | c.707G>C (p.Arg236Thr) c.758G>C (p.Arg253Thr) c.737G>C (p.Arg246Thr) | dbSNP gnomAD v4 |
10 | g.79557249C>T | CA377352669 | SFTPA2 | c.707G>A (p.Arg236Lys) c.758G>A (p.Arg253Lys) c.737G>A (p.Arg246Lys) | gnomAD v4 |
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.79557250T>A | CA377352670 | SFTPA2 | c.706A>T (p.Arg236Trp) c.757A>T (p.Arg253Trp) c.736A>T (p.Arg246Trp) | |
10 | g.79557250T>C | CA377352671 | SFTPA2 | c.706A>G (p.Arg236Gly) c.757A>G (p.Arg253Gly) c.736A>G (p.Arg246Gly) | |
10 | g.79557250T>G | CA470414462 | SFTPA2 | c.706A>C (p.Arg236=) c.757A>C (p.Arg253=) c.736A>C (p.Arg246=) | |
10 | g.79557251G>A | CA470414463 | SFTPA2 | c.705C>T (p.Asp235=) c.756C>T (p.Asp252=) c.735C>T (p.Asp245=) | dbSNP gnomAD v2 |
10 | g.79557251G>C | CA377352672 | SFTPA2 | c.705C>G (p.Asp235Glu) c.756C>G (p.Asp252Glu) c.735C>G (p.Asp245Glu) | |
10 | g.79557251G= | CA1922240626 | SFTPA2 | c.705C= (p.Asp235=) c.756C= (p.Asp252=) c.735C= (p.Asp245=) | |
10 | g.79557251G>T | CA377352673 | SFTPA2 | c.705C>A (p.Asp235Glu) c.756C>A (p.Asp252Glu) c.735C>A (p.Asp245Glu) | |
10 | g.79557252T>A | CA377352674 | SFTPA2 | c.704A>T (p.Asp235Val) c.755A>T (p.Asp252Val) c.734A>T (p.Asp245Val) | |
10 | g.79557252T>C | CA377352675 | SFTPA2 | c.704A>G (p.Asp235Gly) c.755A>G (p.Asp252Gly) c.734A>G (p.Asp245Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557252T>G | CA377352676 | SFTPA2 | c.704A>C (p.Asp235Ala) c.755A>C (p.Asp252Ala) c.734A>C (p.Asp245Ala) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557252T= | CA1922240628 | SFTPA2 | c.704A= (p.Asp235=) c.755A= (p.Asp252=) c.734A= (p.Asp245=) | |
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 |