UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.79557169_79557178del | CA2609869123 | SFTPA2 | c.*32_*41del (n.*32_*41del) | gnomAD v4 |
| 10 | g.79557171C>G | CA2609869127 | SFTPA2 | c.*38G>C (n.*38G>C) | gnomAD v4 |
| 10 | g.79557171C>T | CA2609869128 | SFTPA2 | c.*38G>A (n.*38G>A) | gnomAD v4 |
| 10 | g.79557172A>T | CA2609869129 | SFTPA2 | c.*37T>A (n.*37T>A) | gnomAD v4 |
| 10 | g.79557175C= | CA1922240508 | SFTPA2 | c.*34G= (n.*34G=) | |
| 10 | g.79557175C>G | CA5573959 | SFTPA2 | c.*34G>C (n.*34G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79557176A>T | CA2574596518 | SFTPA2 | c.*33T>A (n.*33T>A) | |
| 10 | g.79557178G>A | CA5573961 | SFTPA2 | c.*31C>T (n.*31C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.79557178G>C | CA210247951 | SFTPA2 | c.*31C>G (n.*31C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.79557178G= | CA1922240511 | SFTPA2 | c.*31C= (n.*31C=) | |
| 10 | g.79557178G>T | CA5573960 | SFTPA2 | c.*31C>A (n.*31C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79557179A= | CA1922240517 | SFTPA2 | c.*30T= (n.*30T=) | |
| 10 | g.79557179A>G | CA210247962 | SFTPA2 | c.*30T>C (n.*30T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.79557179A>T | CA5573962 | SFTPA2 | c.*30T>A (n.*30T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79557180T>A | CA1922240521 | SFTPA2 | c.*29A>T (n.*29A>T) | dbSNP |
| 10 | g.79557180T>C | CA5573963 | SFTPA2 | c.*29A>G (n.*29A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79557180T>G | CA2580951674 | SFTPA2 | c.*29A>C (n.*29A>C) | |
| 10 | g.79557180T= | CA1922240520 | SFTPA2 | c.*29A= (n.*29A=) | |
| 10 | g.79557181C>A | CA2580951676 | SFTPA2 | c.*28G>T (n.*28G>T) | gnomAD v4 |
| 10 | g.79557181C= | CA1922240525 | SFTPA2 | c.*28G= (n.*28G=) | |
| 10 | g.79557181C>G | CA2580951675 | SFTPA2 | c.*28G>C (n.*28G>C) | |
| 10 | g.79557181C>T | CA5573964 | SFTPA2 | c.*28G>A (n.*28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79557182dup | CA653600364 | SFTPA2 | c.*28dup (n.*28dup) | |
| 10 | g.79557182C>A | CA2609869130 | SFTPA2 | c.*27G>T (n.*27G>T) | gnomAD v4 |
| 10 | g.79557182C>T | CA2557683649 | SFTPA2 | c.*27G>A (n.*27G>A) | |
| 10 | g.79557184C>T | CA2609869131 | SFTPA2 | c.*25G>A (n.*25G>A) | gnomAD v4 |
| 10 | g.79557185C>A | CA5573965 | SFTPA2 | c.*24G>T (n.*24G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.79557185C= | CA1922240532 | SFTPA2 | c.*24G= (n.*24G=) | |
| 10 | g.79557185C>G | CA2609869132 | SFTPA2 | c.*24G>C (n.*24G>C) | gnomAD v4 |
| 10 | g.79557185C>T | CA5573966 | SFTPA2 | c.*24G>A (n.*24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.79557186C>A | CA5573967 | SFTPA2 | c.*23G>T (n.*23G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79557186C= | CA1922240535 | SFTPA2 | c.*23G= (n.*23G=) | |
| 10 | g.79557186C>T | CA668801779 | SFTPA2 | c.*23G>A (n.*23G>A) | dbSNP gnomAD v4 |
| 10 | g.79557187T>A | CA2609869133 | SFTPA2 | c.*22A>T (n.*22A>T) | gnomAD v4 |
| 10 | g.79557187T>C | CA594711236 | SFTPA2 | c.*22A>G (n.*22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79557187T= | CA1922240537 | SFTPA2 | c.*22A= (n.*22A=) | |
| 10 | g.79557188G>A | CA1922240541 | SFTPA2 | c.*21C>T (n.*21C>T) | dbSNP |
| 10 | g.79557188G= | CA1922240539 | SFTPA2 | c.*21C= (n.*21C=) | |
| 10 | g.79557189T>C | CA1922240543 | SFTPA2 | c.*20A>G (n.*20A>G) | dbSNP |
| 10 | g.79557189T= | CA1922240542 | SFTPA2 | c.*20A= (n.*20A=) | |
| 10 | g.79557190C>A | CA594711237 | SFTPA2 | c.*19G>T (n.*19G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.79557190C= | CA1922240545 | SFTPA2 | c.*19G= (n.*19G=) | |
| 10 | g.79557190C>T | CA2609869134 | SFTPA2 | c.*19G>A (n.*19G>A) | gnomAD v4 |
| 10 | g.79557191C= | CA1922240547 | SFTPA2 | c.*18G= (n.*18G=) | |
| 10 | g.79557191C>T | CA5573968 | SFTPA2 | c.*18G>A (n.*18G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79557192C>T | CA930320755 | SFTPA2 | c.*17G>A (n.*17G>A) | gnomAD v3 gnomAD v4 |
| 10 | g.79557193A= | CA1922240549 | SFTPA2 | c.*16T= (n.*16T=) | |
| 10 | g.79557193A>G | CA594711238 | SFTPA2 | c.*16T>C (n.*16T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79557194T>C | CA668801806 | SFTPA2 | c.*15A>G (n.*15A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.79557194T= | CA1922240551 | SFTPA2 | c.*15A= (n.*15A=) | |
| 10 | g.79557195G>A | CA2609869135 | SFTPA2 | c.*14C>T (n.*14C>T) | gnomAD v4 |
| 10 | g.79557197C= | CA1922240552 | SFTPA2 | c.*12G= (n.*12G=) | |
| 10 | g.79557197C>T | CA1922240554 | SFTPA2 | c.*12G>A (n.*12G>A) | dbSNP gnomAD v4 |
| 10 | g.79557198C>A | CA930320767 | SFTPA2 | c.*11G>T (n.*11G>T) | gnomAD v3 gnomAD v4 |
| 10 | g.79557202A>G | CA2609869136 | SFTPA2 | c.*7T>C (n.*7T>C) | gnomAD v4 |
| 10 | g.79557203T>C | CA210248019 | SFTPA2 | c.*6A>G (n.*6A>G) | dbSNP |
| 10 | g.79557203T= | CA1922240555 | SFTPA2 | c.*6A= (n.*6A=) | |
| 10 | g.79557204G>A | CA5573969 | SFTPA2 | c.*5C>T (n.*5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79557204G>C | CA5573970 | SFTPA2 | c.*5C>G (n.*5C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.79557204G= | CA1922240558 | SFTPA2 | c.*5C= (n.*5C=) | |
| 10 | g.79557204G>T | CA930320776 | SFTPA2 | c.*5C>A (n.*5C>A) | gnomAD v3 gnomAD v4 |
| 10 | g.79557205C>G | CA2517304672 | SFTPA2 | c.*4G>C (n.*4G>C) | gnomAD v4 |
| 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=) |