| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.22163928C>A | CA370538281 | SFTPC | c.463C>A (p.Leu155Met) c.481C>A (p.Leu161Met) c.*108C>A (n.*108C>A) c.277-338C>A (n.277-338C>A) c.*364C>A (n.*364C>A) c.304C>A (p.Leu102Met) c.322C>A (p.Leu108Met) | |
| 8 | g.22163928C>G | CA370538282 | SFTPC | c.463C>G (p.Leu155Val) c.481C>G (p.Leu161Val) c.*108C>G (n.*108C>G) c.277-338C>G (n.277-338C>G) c.*364C>G (n.*364C>G) c.304C>G (p.Leu102Val) c.322C>G (p.Leu108Val) | |
| 8 | g.22163928C>T | CA460170541 | SFTPC | c.463C>T (p.Leu155=) c.481C>T (p.Leu161=) c.*108C>T (n.*108C>T) c.277-338C>T (n.277-338C>T) c.*364C>T (n.*364C>T) c.304C>T (p.Leu102=) c.322C>T (p.Leu108=) | |
| 8 | g.22163929T>A | CA370538284 | SFTPC | c.464T>A (p.Leu155Gln) c.482T>A (p.Leu161Gln) c.*109T>A (n.*109T>A) c.277-337T>A (n.277-337T>A) c.*365T>A (n.*365T>A) c.305T>A (p.Leu102Gln) c.323T>A (p.Leu108Gln) | dbSNP |
| 8 | g.22163929T>C | CA370538285 | SFTPC | c.464T>C (p.Leu155Pro) c.482T>C (p.Leu161Pro) c.*109T>C (n.*109T>C) c.277-337T>C (n.277-337T>C) c.*365T>C (n.*365T>C) c.305T>C (p.Leu102Pro) c.323T>C (p.Leu108Pro) | gnomAD v4 |
| 8 | g.22163929T>G | CA370538283 | SFTPC | c.464T>G (p.Leu155Arg) c.482T>G (p.Leu161Arg) c.*109T>G (n.*109T>G) c.277-337T>G (n.277-337T>G) c.*365T>G (n.*365T>G) c.305T>G (p.Leu102Arg) c.323T>G (p.Leu108Arg) | |
| 8 | g.22163929T= | CA1770260290 | SFTPC | c.464T= (p.Leu155=) c.482T= (p.Leu161=) c.*109T= (n.*109T=) c.277-337T= (n.277-337T=) c.*365T= (n.*365T=) c.305T= (p.Leu102=) c.323T= (p.Leu108=) | |
| 8 | g.22163930G>A | CA460170543 | SFTPC | c.465G>A (p.Leu155=) c.483G>A (p.Leu161=) c.*110G>A (n.*110G>A) c.277-336G>A (n.277-336G>A) c.*366G>A (n.*366G>A) c.306G>A (p.Leu102=) c.324G>A (p.Leu108=) | |
| 8 | g.22163930G>C | CA460170544 | SFTPC | c.465G>C (p.Leu155=) c.483G>C (p.Leu161=) c.*110G>C (n.*110G>C) c.277-336G>C (n.277-336G>C) c.*366G>C (n.*366G>C) c.306G>C (p.Leu102=) c.324G>C (p.Leu108=) | |
| 8 | g.22163930G>T | CA460170545 | SFTPC | c.465G>T (p.Leu155=) c.483G>T (p.Leu161=) c.*110G>T (n.*110G>T) c.277-336G>T (n.277-336G>T) c.*366G>T (n.*366G>T) c.306G>T (p.Leu102=) c.324G>T (p.Leu108=) | |
| 8 | g.22163931G>A | CA370538288 | SFTPC | c.466G>A (p.Gly156Ser) c.484G>A (p.Gly162Ser) c.*111G>A (n.*111G>A) c.277-335G>A (n.277-335G>A) c.*367G>A (n.*367G>A) c.307G>A (p.Gly103Ser) c.325G>A (p.Gly109Ser) | gnomAD v4 |
| 8 | g.22163931G>C | CA370538286 | SFTPC | c.466G>C (p.Gly156Arg) c.484G>C (p.Gly162Arg) c.*111G>C (n.*111G>C) c.277-335G>C (n.277-335G>C) c.*367G>C (n.*367G>C) c.307G>C (p.Gly103Arg) c.325G>C (p.Gly109Arg) | |
| 8 | g.22163931G>T | CA370538287 | SFTPC | c.466G>T (p.Gly156Cys) c.484G>T (p.Gly162Cys) c.*111G>T (n.*111G>T) c.277-335G>T (n.277-335G>T) c.*367G>T (n.*367G>T) c.307G>T (p.Gly103Cys) c.325G>T (p.Gly109Cys) | gnomAD v4 |
| 8 | g.22163932G>A | CA370538289 | SFTPC | c.467G>A (p.Gly156Asp) c.485G>A (p.Gly162Asp) c.*112G>A (n.*112G>A) c.277-334G>A (n.277-334G>A) c.*368G>A (n.*368G>A) c.308G>A (p.Gly103Asp) c.326G>A (p.Gly109Asp) | gnomAD v4 |
| 8 | g.22163932G>C | CA370538290 | SFTPC | c.467G>C (p.Gly156Ala) c.485G>C (p.Gly162Ala) c.*112G>C (n.*112G>C) c.277-334G>C (n.277-334G>C) c.*368G>C (n.*368G>C) c.308G>C (p.Gly103Ala) c.326G>C (p.Gly109Ala) | |
| 8 | g.22163932G= | CA1770260299 | SFTPC | c.467G= (p.Gly156=) c.485G= (p.Gly162=) c.*112G= (n.*112G=) c.277-334G= (n.277-334G=) c.*368G= (n.*368G=) c.308G= (p.Gly103=) c.326G= (p.Gly109=) | |
| 8 | g.22163932G>T | CA370538291 | SFTPC | c.467G>T (p.Gly156Val) c.485G>T (p.Gly162Val) c.*112G>T (n.*112G>T) c.277-334G>T (n.277-334G>T) c.*368G>T (n.*368G>T) c.308G>T (p.Gly103Val) c.326G>T (p.Gly109Val) | gnomAD v4 |
| 8 | g.22163933C>A | CA460170553 | SFTPC | c.468C>A (p.Gly156=) c.486C>A (p.Gly162=) c.*113C>A (n.*113C>A) c.277-333C>A (n.277-333C>A) c.*369C>A (n.*369C>A) c.309C>A (p.Gly103=) c.327C>A (p.Gly109=) | dbSNP |
| 8 | g.22163933C= | CA1770260307 | SFTPC | c.468C= (p.Gly156=) c.486C= (p.Gly162=) c.*113C= (n.*113C=) c.277-333C= (n.277-333C=) c.*369C= (n.*369C=) c.309C= (p.Gly103=) c.327C= (p.Gly109=) | |
| 8 | g.22163933C>G | CA173483961 | SFTPC | c.468C>G (p.Gly156=) c.486C>G (p.Gly162=) c.*113C>G (n.*113C>G) c.277-333C>G (n.277-333C>G) c.*369C>G (n.*369C>G) c.309C>G (p.Gly103=) c.327C>G (p.Gly109=) | dbSNP |
| 8 | g.22163933C>T | CA460170555 | SFTPC | c.468C>T (p.Gly156=) c.486C>T (p.Gly162=) c.*113C>T (n.*113C>T) c.277-333C>T (n.277-333C>T) c.*369C>T (n.*369C>T) c.309C>T (p.Gly103=) c.327C>T (p.Gly109=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22163934dup | CA1770260308 | SFTPC | c.469dup (p.Gln157ProfsTer?) c.487dup (p.Gln163ProfsTer?) c.*114dup (n.*114dup) c.277-332dup (n.277-332dup) c.*370dup (n.*370dup) c.310dup (p.Gln104ProfsTer?) c.328dup (p.Gln110ProfsTer?) | dbSNP |
| 8 | g.22163934C>A | CA370538292 | SFTPC | c.469C>A (p.Gln157Lys) c.487C>A (p.Gln163Lys) c.*114C>A (n.*114C>A) c.277-332C>A (n.277-332C>A) c.*370C>A (n.*370C>A) c.310C>A (p.Gln104Lys) c.328C>A (p.Gln110Lys) | |
| 8 | g.22163934C= | CA1770260316 | SFTPC | c.469C= (p.Gln157=) c.487C= (p.Gln163=) c.*114C= (n.*114C=) c.277-332C= (n.277-332C=) c.*370C= (n.*370C=) c.310C= (p.Gln104=) c.328C= (p.Gln110=) | |
| 8 | g.22163934C>G | CA370538293 | SFTPC | c.469C>G (p.Gln157Glu) c.487C>G (p.Gln163Glu) c.*114C>G (n.*114C>G) c.277-332C>G (n.277-332C>G) c.*370C>G (n.*370C>G) c.310C>G (p.Gln104Glu) c.328C>G (p.Gln110Glu) | gnomAD v4 |
| 8 | g.22163934C>T | CA370538294 | SFTPC | c.469C>T (p.Gln157Ter) c.487C>T (p.Gln163Ter) c.*114C>T (n.*114C>T) c.277-332C>T (n.277-332C>T) c.*370C>T (n.*370C>T) c.310C>T (p.Gln104Ter) c.328C>T (p.Gln110Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22163935A>C | CA370538295 | SFTPC | c.470A>C (p.Gln157Pro) c.488A>C (p.Gln163Pro) c.*115A>C (n.*115A>C) c.277-331A>C (n.277-331A>C) c.*371A>C (n.*371A>C) c.311A>C (p.Gln104Pro) c.329A>C (p.Gln110Pro) | |
| 8 | g.22163935A>G | CA370538296 | SFTPC | c.470A>G (p.Gln157Arg) c.488A>G (p.Gln163Arg) c.*115A>G (n.*115A>G) c.277-331A>G (n.277-331A>G) c.*371A>G (n.*371A>G) c.311A>G (p.Gln104Arg) c.329A>G (p.Gln110Arg) | |
| 8 | g.22163935A>T | CA370538297 | SFTPC | c.470A>T (p.Gln157Leu) c.488A>T (p.Gln163Leu) c.*115A>T (n.*115A>T) c.277-331A>T (n.277-331A>T) c.*371A>T (n.*371A>T) c.311A>T (p.Gln104Leu) c.329A>T (p.Gln110Leu) | |
| 8 | g.22163936G>A | CA460170559 | SFTPC | c.471G>A (p.Gln157=) c.489G>A (p.Gln163=) c.*116G>A (n.*116G>A) c.277-330G>A (n.277-330G>A) c.*372G>A (n.*372G>A) c.312G>A (p.Gln104=) c.330G>A (p.Gln110=) | dbSNP gnomAD v4 |
| 8 | g.22163936G>C | CA370538298 | SFTPC | c.471G>C (p.Gln157His) c.489G>C (p.Gln163His) c.*116G>C (n.*116G>C) c.277-330G>C (n.277-330G>C) c.*372G>C (n.*372G>C) c.312G>C (p.Gln104His) c.330G>C (p.Gln110His) | gnomAD v4 |
| 8 | g.22163936G= | CA1770260319 | SFTPC | c.471G= (p.Gln157=) c.489G= (p.Gln163=) c.*116G= (n.*116G=) c.277-330G= (n.277-330G=) c.*372G= (n.*372G=) c.312G= (p.Gln104=) c.330G= (p.Gln110=) | |
| 8 | g.22163936G>T | CA370538299 | SFTPC | c.471G>T (p.Gln157His) c.489G>T (p.Gln163His) c.*116G>T (n.*116G>T) c.277-330G>T (n.277-330G>T) c.*372G>T (n.*372G>T) c.312G>T (p.Gln104His) c.330G>T (p.Gln110His) | |
| 8 | g.22163937G>A | CA4664065 | SFTPC | c.472G>A (p.Ala158Thr) c.490G>A (p.Ala164Thr) c.*117G>A (n.*117G>A) c.277-329G>A (n.277-329G>A) c.*373G>A (n.*373G>A) c.313G>A (p.Ala105Thr) c.331G>A (p.Ala111Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163937G>C | CA370538300 | SFTPC | c.472G>C (p.Ala158Pro) c.490G>C (p.Ala164Pro) c.*117G>C (n.*117G>C) c.277-329G>C (n.277-329G>C) c.*373G>C (n.*373G>C) c.313G>C (p.Ala105Pro) c.331G>C (p.Ala111Pro) | |
| 8 | g.22163937G= | CA1770260325 | SFTPC | c.472G= (p.Ala158=) c.490G= (p.Ala164=) c.*117G= (n.*117G=) c.277-329G= (n.277-329G=) c.*373G= (n.*373G=) c.313G= (p.Ala105=) c.331G= (p.Ala111=) | |
| 8 | g.22163937G>T | CA370538301 | SFTPC | c.472G>T (p.Ala158Ser) c.490G>T (p.Ala164Ser) c.*117G>T (n.*117G>T) c.277-329G>T (n.277-329G>T) c.*373G>T (n.*373G>T) c.313G>T (p.Ala105Ser) c.331G>T (p.Ala111Ser) | |
| 8 | g.22163938C>A | CA370538302 | SFTPC | c.473C>A (p.Ala158Glu) c.491C>A (p.Ala164Glu) c.*118C>A (n.*118C>A) c.277-328C>A (n.277-328C>A) c.*374C>A (n.*374C>A) c.314C>A (p.Ala105Glu) c.332C>A (p.Ala111Glu) | |
| 8 | g.22163938C= | CA1770260329 | SFTPC | c.473C= (p.Ala158=) c.491C= (p.Ala164=) c.*118C= (n.*118C=) c.277-328C= (n.277-328C=) c.*374C= (n.*374C=) c.314C= (p.Ala105=) c.332C= (p.Ala111=) | |
| 8 | g.22163938C>G | CA370538303 | SFTPC | c.473C>G (p.Ala158Gly) c.491C>G (p.Ala164Gly) c.*118C>G (n.*118C>G) c.277-328C>G (n.277-328C>G) c.*374C>G (n.*374C>G) c.314C>G (p.Ala105Gly) c.332C>G (p.Ala111Gly) | dbSNP |
| 8 | g.22163938C>T | CA370538304 | SFTPC | c.473C>T (p.Ala158Val) c.491C>T (p.Ala164Val) c.*118C>T (n.*118C>T) c.277-328C>T (n.277-328C>T) c.*374C>T (n.*374C>T) c.314C>T (p.Ala105Val) c.332C>T (p.Ala111Val) | |
| 8 | g.22163939A>C | CA460170566 | SFTPC | c.474A>C (p.Ala158=) c.492A>C (p.Ala164=) c.*119A>C (n.*119A>C) c.277-327A>C (n.277-327A>C) c.*375A>C (n.*375A>C) c.315A>C (p.Ala105=) c.333A>C (p.Ala111=) | |
| 8 | g.22163939A>G | CA460170567 | SFTPC | c.474A>G (p.Ala158=) c.492A>G (p.Ala164=) c.*119A>G (n.*119A>G) c.277-327A>G (n.277-327A>G) c.*375A>G (n.*375A>G) c.315A>G (p.Ala105=) c.333A>G (p.Ala111=) | |
| 8 | g.22163939A>T | CA460170569 | SFTPC | c.474A>T (p.Ala158=) c.492A>T (p.Ala164=) c.*119A>T (n.*119A>T) c.277-327A>T (n.277-327A>T) c.*375A>T (n.*375A>T) c.315A>T (p.Ala105=) c.333A>T (p.Ala111=) | |
| 8 | g.22163941_22163942del | CA2580614314 | SFTPC | c.476_477del (p.Glu159GlyfsTer?) c.494_495del (p.Glu165GlyfsTer?) c.*121_*122del (n.*121_*122del) c.277-325_277-324del (n.277-325_277-324del) c.*377_*378del (n.*377_*378del) c.317_318del (p.Glu106GlyfsTer?) c.335_336del (p.Glu112GlyfsTer?) | ClinVar |
| 8 | g.22163940G>A | CA370538305 | SFTPC | c.475G>A (p.Glu159Lys) c.493G>A (p.Glu165Lys) c.*120G>A (n.*120G>A) c.277-326G>A (n.277-326G>A) c.*376G>A (n.*376G>A) c.316G>A (p.Glu106Lys) c.334G>A (p.Glu112Lys) | |
| 8 | g.22163940G>C | CA370538306 | SFTPC | c.475G>C (p.Glu159Gln) c.493G>C (p.Glu165Gln) c.*120G>C (n.*120G>C) c.277-326G>C (n.277-326G>C) c.*376G>C (n.*376G>C) c.316G>C (p.Glu106Gln) c.334G>C (p.Glu112Gln) | gnomAD v4 |
| 8 | g.22163940G>T | CA370538307 | SFTPC | c.475G>T (p.Glu159Ter) c.493G>T (p.Glu165Ter) c.*120G>T (n.*120G>T) c.277-326G>T (n.277-326G>T) c.*376G>T (n.*376G>T) c.316G>T (p.Glu106Ter) c.334G>T (p.Glu112Ter) | |
| 8 | g.22163941A>C | CA370538308 | SFTPC | c.476A>C (p.Glu159Ala) c.494A>C (p.Glu165Ala) c.*121A>C (n.*121A>C) c.277-325A>C (n.277-325A>C) c.*377A>C (n.*377A>C) c.317A>C (p.Glu106Ala) c.335A>C (p.Glu112Ala) | |
| 8 | g.22163941A>G | CA370538309 | SFTPC | c.476A>G (p.Glu159Gly) c.494A>G (p.Glu165Gly) c.*121A>G (n.*121A>G) c.277-325A>G (n.277-325A>G) c.*377A>G (n.*377A>G) c.317A>G (p.Glu106Gly) c.335A>G (p.Glu112Gly) |