Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.79557140C>T | CA2609869110 | SFTPA2 | c.*69G>A (n.*69G>A) | gnomAD v4 |
10 | g.79557141_79557142insGCCTTGAC | CA2552461520 | SFTPA2 | c.*67_*68insGTCAAGGC (n.*67_*68insGTCAAGGC) | |
10 | g.79557143G>A | CA210247865 | SFTPA2 | c.*66C>T (n.*66C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557143G= | CA1922240463 | SFTPA2 | c.*66C= (n.*66C=) | |
10 | g.79557145G>A | CA930320607 | SFTPA2 | c.*64C>T (n.*64C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557145G= | CA1922240464 | SFTPA2 | c.*64C= (n.*64C=) | |
10 | g.79557145_79557146insTA | CA2609869111 | SFTPA2 | c.*63_*64insTA (n.*63_*64insTA) | gnomAD v4 |
10 | g.79557146G>A | CA2609869112 | SFTPA2 | c.*63C>T (n.*63C>T) | gnomAD v4 |
10 | g.79557147A= | CA1922240465 | SFTPA2 | c.*62T= (n.*62T=) | |
10 | g.79557147A>T | CA210247871 | SFTPA2 | c.*62T>A (n.*62T>A) | dbSNP gnomAD v4 |
10 | g.79557148T>A | CA210247879 | SFTPA2 | c.*61A>T (n.*61A>T) | dbSNP gnomAD v4 |
10 | g.79557148T>G | CA210247883 | SFTPA2 | c.*61A>C (n.*61A>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557148T= | CA1922240468 | SFTPA2 | c.*61A= (n.*61A=) | |
10 | g.79557149C= | CA1922240471 | SFTPA2 | c.*60G= (n.*60G=) | |
10 | g.79557149C>T | CA210247888 | SFTPA2 | c.*60G>A (n.*60G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557150del | CA2609869113 | SFTPA2 | c.*60del (n.*60del) | gnomAD v4 |
10 | g.79557151T>A | CA2609869114 | SFTPA2 | c.*58A>T (n.*58A>T) | gnomAD v4 |
10 | g.79557151T>C | CA210247891 | SFTPA2 | c.*58A>G (n.*58A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557151T>G | CA2609869115 | SFTPA2 | c.*58A>C (n.*58A>C) | gnomAD v4 |
10 | g.79557151T= | CA1922240474 | SFTPA2 | c.*58A= (n.*58A=) | |
10 | g.79557152G>C | CA210247892 | SFTPA2 | c.*57C>G (n.*57C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557152G= | CA1922240476 | SFTPA2 | c.*57C= (n.*57C=) | |
10 | g.79557153G>A | CA210247898 | SFTPA2 | c.*56C>T (n.*56C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557153G>C | CA1922240479 | SFTPA2 | c.*56C>G (n.*56C>G) | dbSNP |
10 | g.79557153G= | CA1922240478 | SFTPA2 | c.*56C= (n.*56C=) | |
10 | g.79557154G>A | CA1922240482 | SFTPA2 | c.*55C>T (n.*55C>T) | dbSNP gnomAD v4 |
10 | g.79557154G= | CA1922240481 | SFTPA2 | c.*55C= (n.*55C=) | |
10 | g.79557155G>A | CA2609869116 | SFTPA2 | c.*54C>T (n.*54C>T) | gnomAD v4 |
10 | g.79557155G>C | CA668801758 | SFTPA2 | c.*54C>G (n.*54C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557155G= | CA1922240485 | SFTPA2 | c.*54C= (n.*54C=) | |
10 | g.79557155G>T | CA210247904 | SFTPA2 | c.*54C>A (n.*54C>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557155_79557156del | CA2609869117 | SFTPA2 | c.*53_*54del (n.*53_*54del) | gnomAD v4 |
10 | g.79557156A= | CA1922240489 | SFTPA2 | c.*53T= (n.*53T=) | |
10 | g.79557156A>G | CA930320647 | SFTPA2 | c.*53T>C (n.*53T>C) | dbSNP |
10 | g.79557157_79557165delinsTGGAAACTG | CA1922240490 | SFTPA2 | c.*44_*52delinsCAGTTTCCA (n.*44_*52delinsCAGTTTCCA) | |
10 | g.79557158G>A | CA930320654 | SFTPA2 | c.*51C>T (n.*51C>T) | gnomAD v3 gnomAD v4 |
10 | g.79557158_79557163del | CA2609869118 | SFTPA2 | c.*46_*51del (n.*46_*51del) | dbSNP gnomAD v4 |
10 | g.79557158_79557165del | CA1922240491 | SFTPA2 | c.*44_*51del (n.*44_*51del) | dbSNP |
10 | g.79557159G>A | CA5573955 | SFTPA2 | c.*50C>T (n.*50C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.79557159G>C | CA1922240493 | SFTPA2 | c.*50C>G (n.*50C>G) | dbSNP |
10 | g.79557159G= | CA1922240494 | SFTPA2 | c.*50C= (n.*50C=) | |
10 | g.79557159_79557160insTCGCCGTATCATTA | CA2609869119 | SFTPA2 | c.*49_*50insTAATGATACGGCGA (n.*49_*50insTAATGATACGGCGA) | gnomAD v4 |
10 | g.79557160A>T | CA2574596516 | SFTPA2 | c.*49T>A (n.*49T>A) | gnomAD v4 |
10 | g.79557161A>G | CA930320666 | SFTPA2 | c.*48T>C (n.*48T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557162A>G | CA930320675 | SFTPA2 | c.*47T>C (n.*47T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557163C>A | CA2609869121 | SFTPA2 | c.*46G>T (n.*46G>T) | gnomAD v4 |
10 | g.79557163C= | CA1922240496 | SFTPA2 | c.*46G= (n.*46G=) | |
10 | g.79557163C>T | CA5573956 | SFTPA2 | c.*46G>A (n.*46G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557163_79557165del | CA2609869120 | SFTPA2 | c.*44_*46del (n.*44_*46del) | gnomAD v4 |
10 | g.79557164T>C | CA5573957 | SFTPA2 | c.*45A>G (n.*45A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557164T= | CA1922240497 | SFTPA2 | c.*45A= (n.*45A=) | |
10 | g.79557165_79557166del | CA2609869122 | SFTPA2 | c.*43_*44del (n.*43_*44del) | dbSNP gnomAD v4 |
10 | g.79557166A= | CA1922240499 | SFTPA2 | c.*43T= (n.*43T=) | |
10 | g.79557166A>G | CA1922240500 | SFTPA2 | c.*43T>C (n.*43T>C) | dbSNP |
10 | g.79557166A>T | CA210247930 | SFTPA2 | c.*43T>A (n.*43T>A) | dbSNP |
10 | g.79557167A>G | CA2574596517 | SFTPA2 | c.*42T>C (n.*42T>C) | gnomAD v4 |
10 | g.79557168G>A | CA2609869124 | SFTPA2 | c.*41C>T (n.*41C>T) | gnomAD v4 |
10 | g.79557169_79557178del | CA2609869123 | SFTPA2 | c.*32_*41del (n.*32_*41del) | gnomAD v4 |
10 | g.79557169G>A | CA2609869125 | SFTPA2 | c.*40C>T (n.*40C>T) | gnomAD v4 |
10 | g.79557169G>C | CA1922240503 | SFTPA2 | c.*40C>G (n.*40C>G) | dbSNP gnomAD v4 |
10 | g.79557169G= | CA1922240502 | SFTPA2 | c.*40C= (n.*40C=) | |
10 | g.79557170C>A | CA2609869126 | SFTPA2 | c.*39G>T (n.*39G>T) | gnomAD v4 |
10 | g.79557170C= | CA1922240505 | SFTPA2 | c.*39G= (n.*39G=) | |
10 | g.79557170C>T | CA5573958 | SFTPA2 | c.*39G>A (n.*39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 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.79557172dup | CA2841851274 | SFTPA2 | c.*37dup (n.*37dup) | |
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) |