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 |
|---|---|---|---|---|---|
| 8 | g.22163910G>A | CA370538247 | SFTPC | c.445G>A (p.Ala149Thr) c.463G>A (p.Ala155Thr) c.*90G>A (n.*90G>A) c.277-356G>A (n.277-356G>A) c.*346G>A (n.*346G>A) c.286G>A (p.Ala96Thr) c.304G>A (p.Ala102Thr) | gnomAD v4 |
| 8 | g.22163910G>C | CA4664059 | SFTPC | c.445G>C (p.Ala149Pro) c.463G>C (p.Ala155Pro) c.*90G>C (n.*90G>C) c.277-356G>C (n.277-356G>C) c.*346G>C (n.*346G>C) c.286G>C (p.Ala96Pro) c.304G>C (p.Ala102Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163910G= | CA1770260231 | SFTPC | c.445G= (p.Ala149=) c.463G= (p.Ala155=) c.*90G= (n.*90G=) c.277-356G= (n.277-356G=) c.*346G= (n.*346G=) c.286G= (p.Ala96=) c.304G= (p.Ala102=) | |
| 8 | g.22163910G>T | CA370538248 | SFTPC | c.445G>T (p.Ala149Ser) c.463G>T (p.Ala155Ser) c.*90G>T (n.*90G>T) c.277-356G>T (n.277-356G>T) c.*346G>T (n.*346G>T) c.286G>T (p.Ala96Ser) c.304G>T (p.Ala102Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.22163911C>A | CA370538249 | SFTPC | c.446C>A (p.Ala149Glu) c.464C>A (p.Ala155Glu) c.*91C>A (n.*91C>A) c.277-355C>A (n.277-355C>A) c.*347C>A (n.*347C>A) c.287C>A (p.Ala96Glu) c.305C>A (p.Ala102Glu) | |
| 8 | g.22163911C= | CA1770260240 | SFTPC | c.446C= (p.Ala149=) c.464C= (p.Ala155=) c.*91C= (n.*91C=) c.277-355C= (n.277-355C=) c.*347C= (n.*347C=) c.287C= (p.Ala96=) c.305C= (p.Ala102=) | |
| 8 | g.22163911C>G | CA370538250 | SFTPC | c.446C>G (p.Ala149Gly) c.464C>G (p.Ala155Gly) c.*91C>G (n.*91C>G) c.277-355C>G (n.277-355C>G) c.*347C>G (n.*347C>G) c.287C>G (p.Ala96Gly) c.305C>G (p.Ala102Gly) | |
| 8 | g.22163911C>T | CA370538251 | SFTPC | c.446C>T (p.Ala149Val) c.464C>T (p.Ala155Val) c.*91C>T (n.*91C>T) c.277-355C>T (n.277-355C>T) c.*347C>T (n.*347C>T) c.287C>T (p.Ala96Val) c.305C>T (p.Ala102Val) | dbSNP gnomAD v2 |
| 8 | g.22163912A>C | CA460170500 | SFTPC | c.447A>C (p.Ala149=) c.465A>C (p.Ala155=) c.*92A>C (n.*92A>C) c.277-354A>C (n.277-354A>C) c.*348A>C (n.*348A>C) c.288A>C (p.Ala96=) c.306A>C (p.Ala102=) | |
| 8 | g.22163912A>G | CA460170501 | SFTPC | c.447A>G (p.Ala149=) c.465A>G (p.Ala155=) c.*92A>G (n.*92A>G) c.277-354A>G (n.277-354A>G) c.*348A>G (n.*348A>G) c.288A>G (p.Ala96=) c.306A>G (p.Ala102=) | |
| 8 | g.22163912A>T | CA460170504 | SFTPC | c.447A>T (p.Ala149=) c.465A>T (p.Ala155=) c.*92A>T (n.*92A>T) c.277-354A>T (n.277-354A>T) c.*348A>T (n.*348A>T) c.288A>T (p.Ala96=) c.306A>T (p.Ala102=) | |
| 8 | g.22163913G>A | CA370538252 | SFTPC | c.448G>A (p.Val150Met) c.466G>A (p.Val156Met) c.*93G>A (n.*93G>A) c.277-353G>A (n.277-353G>A) c.*349G>A (n.*349G>A) c.289G>A (p.Val97Met) c.307G>A (p.Val103Met) | |
| 8 | g.22163913G>C | CA370538253 | SFTPC | c.448G>C (p.Val150Leu) c.466G>C (p.Val156Leu) c.*93G>C (n.*93G>C) c.277-353G>C (n.277-353G>C) c.*349G>C (n.*349G>C) c.289G>C (p.Val97Leu) c.307G>C (p.Val103Leu) | |
| 8 | g.22163913G>T | CA370538254 | SFTPC | c.448G>T (p.Val150Leu) c.466G>T (p.Val156Leu) c.*93G>T (n.*93G>T) c.277-353G>T (n.277-353G>T) c.*349G>T (n.*349G>T) c.289G>T (p.Val97Leu) c.307G>T (p.Val103Leu) | |
| 8 | g.22163914T>A | CA370538255 | SFTPC | c.449T>A (p.Val150Glu) c.467T>A (p.Val156Glu) c.*94T>A (n.*94T>A) c.277-352T>A (n.277-352T>A) c.*350T>A (n.*350T>A) c.290T>A (p.Val97Glu) c.308T>A (p.Val103Glu) | |
| 8 | g.22163914T>C | CA370538256 | SFTPC | c.449T>C (p.Val150Ala) c.467T>C (p.Val156Ala) c.*94T>C (n.*94T>C) c.277-352T>C (n.277-352T>C) c.*350T>C (n.*350T>C) c.290T>C (p.Val97Ala) c.308T>C (p.Val103Ala) | |
| 8 | g.22163914T>G | CA4664060 | SFTPC | c.449T>G (p.Val150Gly) c.467T>G (p.Val156Gly) c.*94T>G (n.*94T>G) c.277-352T>G (n.277-352T>G) c.*350T>G (n.*350T>G) c.290T>G (p.Val97Gly) c.308T>G (p.Val103Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.22163914T= | CA1770260244 | SFTPC | c.449T= (p.Val150=) c.467T= (p.Val156=) c.*94T= (n.*94T=) c.277-352T= (n.277-352T=) c.*350T= (n.*350T=) c.290T= (p.Val97=) c.308T= (p.Val103=) | |
| 8 | g.22163915G>A | CA460170505 | SFTPC | c.450G>A (p.Val150=) c.468G>A (p.Val156=) c.*95G>A (n.*95G>A) c.277-351G>A (n.277-351G>A) c.*351G>A (n.*351G>A) c.291G>A (p.Val97=) c.309G>A (p.Val103=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163915G>C | CA460170506 | SFTPC | c.450G>C (p.Val150=) c.468G>C (p.Val156=) c.*95G>C (n.*95G>C) c.277-351G>C (n.277-351G>C) c.*351G>C (n.*351G>C) c.291G>C (p.Val97=) c.309G>C (p.Val103=) | |
| 8 | g.22163915G= | CA1770260249 | SFTPC | c.450G= (p.Val150=) c.468G= (p.Val156=) c.*95G= (n.*95G=) c.277-351G= (n.277-351G=) c.*351G= (n.*351G=) c.291G= (p.Val97=) c.309G= (p.Val103=) | |
| 8 | g.22163915G>T | CA460170507 | SFTPC | c.450G>T (p.Val150=) c.468G>T (p.Val156=) c.*95G>T (n.*95G>T) c.277-351G>T (n.277-351G>T) c.*351G>T (n.*351G>T) c.291G>T (p.Val97=) c.309G>T (p.Val103=) | |
| 8 | g.22163916C>A | CA370538257 | SFTPC | c.451C>A (p.Pro151Thr) c.469C>A (p.Pro157Thr) c.*96C>A (n.*96C>A) c.277-350C>A (n.277-350C>A) c.*352C>A (n.*352C>A) c.292C>A (p.Pro98Thr) c.310C>A (p.Pro104Thr) | COSMIC |
| 8 | g.22163916C= | CA1770260253 | SFTPC | c.451C= (p.Pro151=) c.469C= (p.Pro157=) c.*96C= (n.*96C=) c.277-350C= (n.277-350C=) c.*352C= (n.*352C=) c.292C= (p.Pro98=) c.310C= (p.Pro104=) | |
| 8 | g.22163916C>G | CA370538258 | SFTPC | c.451C>G (p.Pro151Ala) c.469C>G (p.Pro157Ala) c.*96C>G (n.*96C>G) c.277-350C>G (n.277-350C>G) c.*352C>G (n.*352C>G) c.292C>G (p.Pro98Ala) c.310C>G (p.Pro104Ala) | |
| 8 | g.22163916C>T | CA4664061 | SFTPC | c.451C>T (p.Pro151Ser) c.469C>T (p.Pro157Ser) c.*96C>T (n.*96C>T) c.277-350C>T (n.277-350C>T) c.*352C>T (n.*352C>T) c.292C>T (p.Pro98Ser) c.310C>T (p.Pro104Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163917C>A | CA370538259 | SFTPC | c.452C>A (p.Pro151His) c.470C>A (p.Pro157His) c.*97C>A (n.*97C>A) c.277-349C>A (n.277-349C>A) c.*353C>A (n.*353C>A) c.293C>A (p.Pro98His) c.311C>A (p.Pro104His) | |
| 8 | g.22163917C= | CA1770260260 | SFTPC | c.452C= (p.Pro151=) c.470C= (p.Pro157=) c.*97C= (n.*97C=) c.277-349C= (n.277-349C=) c.*353C= (n.*353C=) c.293C= (p.Pro98=) c.311C= (p.Pro104=) | |
| 8 | g.22163917C>G | CA370538260 | SFTPC | c.452C>G (p.Pro151Arg) c.470C>G (p.Pro157Arg) c.*97C>G (n.*97C>G) c.277-349C>G (n.277-349C>G) c.*353C>G (n.*353C>G) c.293C>G (p.Pro98Arg) c.311C>G (p.Pro104Arg) | |
| 8 | g.22163917C>T | CA370538261 | SFTPC | c.452C>T (p.Pro151Leu) c.470C>T (p.Pro157Leu) c.*97C>T (n.*97C>T) c.277-349C>T (n.277-349C>T) c.*353C>T (n.*353C>T) c.293C>T (p.Pro98Leu) c.311C>T (p.Pro104Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22163918T>A | CA460170519 | SFTPC | c.453T>A (p.Pro151=) c.471T>A (p.Pro157=) c.*98T>A (n.*98T>A) c.277-348T>A (n.277-348T>A) c.*354T>A (n.*354T>A) c.294T>A (p.Pro98=) c.312T>A (p.Pro104=) | |
| 8 | g.22163918T>C | CA460170520 | SFTPC | c.453T>C (p.Pro151=) c.471T>C (p.Pro157=) c.*98T>C (n.*98T>C) c.277-348T>C (n.277-348T>C) c.*354T>C (n.*354T>C) c.294T>C (p.Pro98=) c.312T>C (p.Pro104=) | gnomAD v4 |
| 8 | g.22163918T>G | CA173483953 | SFTPC | c.453T>G (p.Pro151=) c.471T>G (p.Pro157=) c.*98T>G (n.*98T>G) c.277-348T>G (n.277-348T>G) c.*354T>G (n.*354T>G) c.294T>G (p.Pro98=) c.312T>G (p.Pro104=) | dbSNP |
| 8 | g.22163918T= | CA1770260264 | SFTPC | c.453T= (p.Pro151=) c.471T= (p.Pro157=) c.*98T= (n.*98T=) c.277-348T= (n.277-348T=) c.*354T= (n.*354T=) c.294T= (p.Pro98=) c.312T= (p.Pro104=) | |
| 8 | g.22163919A= | CA1770260272 | SFTPC | c.454A= (p.Thr152=) c.472A= (p.Thr158=) c.*99A= (n.*99A=) c.277-347A= (n.277-347A=) c.*355A= (n.*355A=) c.295A= (p.Thr99=) c.313A= (p.Thr105=) | |
| 8 | g.22163919A>C | CA370538262 | SFTPC | c.454A>C (p.Thr152Pro) c.472A>C (p.Thr158Pro) c.*99A>C (n.*99A>C) c.277-347A>C (n.277-347A>C) c.*355A>C (n.*355A>C) c.295A>C (p.Thr99Pro) c.313A>C (p.Thr105Pro) | |
| 8 | g.22163919A>G | CA4664062 | SFTPC | c.454A>G (p.Thr152Ala) c.472A>G (p.Thr158Ala) c.*99A>G (n.*99A>G) c.277-347A>G (n.277-347A>G) c.*355A>G (n.*355A>G) c.295A>G (p.Thr99Ala) c.313A>G (p.Thr105Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163919A>T | CA370538263 | SFTPC | c.454A>T (p.Thr152Ser) c.472A>T (p.Thr158Ser) c.*99A>T (n.*99A>T) c.277-347A>T (n.277-347A>T) c.*355A>T (n.*355A>T) c.295A>T (p.Thr99Ser) c.313A>T (p.Thr105Ser) | |
| 8 | g.22163920C>A | CA370538264 | SFTPC | c.455C>A (p.Thr152Lys) c.473C>A (p.Thr158Lys) c.*100C>A (n.*100C>A) c.277-346C>A (n.277-346C>A) c.*356C>A (n.*356C>A) c.296C>A (p.Thr99Lys) c.314C>A (p.Thr105Lys) | |
| 8 | g.22163920C= | CA1770260276 | SFTPC | c.455C= (p.Thr152=) c.473C= (p.Thr158=) c.*100C= (n.*100C=) c.277-346C= (n.277-346C=) c.*356C= (n.*356C=) c.296C= (p.Thr99=) c.314C= (p.Thr105=) | |
| 8 | g.22163920C>G | CA370538266 | SFTPC | c.455C>G (p.Thr152Arg) c.473C>G (p.Thr158Arg) c.*100C>G (n.*100C>G) c.277-346C>G (n.277-346C>G) c.*356C>G (n.*356C>G) c.296C>G (p.Thr99Arg) c.314C>G (p.Thr105Arg) | |
| 8 | g.22163920C>T | CA370538265 | SFTPC | c.455C>T (p.Thr152Met) c.473C>T (p.Thr158Met) c.*100C>T (n.*100C>T) c.277-346C>T (n.277-346C>T) c.*356C>T (n.*356C>T) c.296C>T (p.Thr99Met) c.314C>T (p.Thr105Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163921G>A | CA460170523 | SFTPC | c.456G>A (p.Thr152=) c.474G>A (p.Thr158=) c.*101G>A (n.*101G>A) c.277-345G>A (n.277-345G>A) c.*357G>A (n.*357G>A) c.297G>A (p.Thr99=) c.315G>A (p.Thr105=) | gnomAD v4 |
| 8 | g.22163921G>C | CA4664063 | SFTPC | c.456G>C (p.Thr152=) c.474G>C (p.Thr158=) c.*101G>C (n.*101G>C) c.277-345G>C (n.277-345G>C) c.*357G>C (n.*357G>C) c.297G>C (p.Thr99=) c.315G>C (p.Thr105=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.22163921G= | CA1770260280 | SFTPC | c.456G= (p.Thr152=) c.474G= (p.Thr158=) c.*101G= (n.*101G=) c.277-345G= (n.277-345G=) c.*357G= (n.*357G=) c.297G= (p.Thr99=) c.315G= (p.Thr105=) | |
| 8 | g.22163921G>T | CA460170524 | SFTPC | c.456G>T (p.Thr152=) c.474G>T (p.Thr158=) c.*101G>T (n.*101G>T) c.277-345G>T (n.277-345G>T) c.*357G>T (n.*357G>T) c.297G>T (p.Thr99=) c.315G>T (p.Thr105=) | |
| 8 | g.22163922T>A | CA370538267 | SFTPC | c.457T>A (p.Ser153Thr) c.475T>A (p.Ser159Thr) c.*102T>A (n.*102T>A) c.277-344T>A (n.277-344T>A) c.*358T>A (n.*358T>A) c.298T>A (p.Ser100Thr) c.316T>A (p.Ser106Thr) | |
| 8 | g.22163922T>C | CA370538268 | SFTPC | c.457T>C (p.Ser153Pro) c.475T>C (p.Ser159Pro) c.*102T>C (n.*102T>C) c.277-344T>C (n.277-344T>C) c.*358T>C (n.*358T>C) c.298T>C (p.Ser100Pro) c.316T>C (p.Ser106Pro) | |
| 8 | g.22163922T>G | CA370538269 | SFTPC | c.457T>G (p.Ser153Ala) c.475T>G (p.Ser159Ala) c.*102T>G (n.*102T>G) c.277-344T>G (n.277-344T>G) c.*358T>G (n.*358T>G) c.298T>G (p.Ser100Ala) c.316T>G (p.Ser106Ala) | |
| 8 | g.22163923C>A | CA370538270 | SFTPC | c.458C>A (p.Ser153Tyr) c.476C>A (p.Ser159Tyr) c.*103C>A (n.*103C>A) c.277-343C>A (n.277-343C>A) c.*359C>A (n.*359C>A) c.299C>A (p.Ser100Tyr) c.317C>A (p.Ser106Tyr) | |
| 8 | g.22163923C>G | CA370538272 | SFTPC | c.458C>G (p.Ser153Cys) c.476C>G (p.Ser159Cys) c.*103C>G (n.*103C>G) c.277-343C>G (n.277-343C>G) c.*359C>G (n.*359C>G) c.299C>G (p.Ser100Cys) c.317C>G (p.Ser106Cys) | |
| 8 | g.22163923C>T | CA370538271 | SFTPC | c.458C>T (p.Ser153Phe) c.476C>T (p.Ser159Phe) c.*103C>T (n.*103C>T) c.277-343C>T (n.277-343C>T) c.*359C>T (n.*359C>T) c.299C>T (p.Ser100Phe) c.317C>T (p.Ser106Phe) | |
| 8 | g.22163924T>A | CA460170531 | SFTPC | c.459T>A (p.Ser153=) c.477T>A (p.Ser159=) c.*104T>A (n.*104T>A) c.277-342T>A (n.277-342T>A) c.*360T>A (n.*360T>A) c.300T>A (p.Ser100=) c.318T>A (p.Ser106=) | |
| 8 | g.22163924T>C | CA460170532 | SFTPC | c.459T>C (p.Ser153=) c.477T>C (p.Ser159=) c.*104T>C (n.*104T>C) c.277-342T>C (n.277-342T>C) c.*360T>C (n.*360T>C) c.300T>C (p.Ser100=) c.318T>C (p.Ser106=) | |
| 8 | g.22163924T>G | CA460170533 | SFTPC | c.459T>G (p.Ser153=) c.477T>G (p.Ser159=) c.*104T>G (n.*104T>G) c.277-342T>G (n.277-342T>G) c.*360T>G (n.*360T>G) c.300T>G (p.Ser100=) c.318T>G (p.Ser106=) | |
| 8 | g.22163925A>C | CA370538273 | SFTPC | c.460A>C (p.Lys154Gln) c.478A>C (p.Lys160Gln) c.*105A>C (n.*105A>C) c.277-341A>C (n.277-341A>C) c.*361A>C (n.*361A>C) c.301A>C (p.Lys101Gln) c.319A>C (p.Lys107Gln) | |
| 8 | g.22163925A>G | CA370538274 | SFTPC | c.460A>G (p.Lys154Glu) c.478A>G (p.Lys160Glu) c.*105A>G (n.*105A>G) c.277-341A>G (n.277-341A>G) c.*361A>G (n.*361A>G) c.301A>G (p.Lys101Glu) c.319A>G (p.Lys107Glu) | |
| 8 | g.22163925A>T | CA370538275 | SFTPC | c.460A>T (p.Lys154Ter) c.478A>T (p.Lys160Ter) c.*105A>T (n.*105A>T) c.277-341A>T (n.277-341A>T) c.*361A>T (n.*361A>T) c.301A>T (p.Lys101Ter) c.319A>T (p.Lys107Ter) | |
| 8 | g.22163926A>C | CA370538276 | SFTPC | c.461A>C (p.Lys154Thr) c.479A>C (p.Lys160Thr) c.*106A>C (n.*106A>C) c.277-340A>C (n.277-340A>C) c.*362A>C (n.*362A>C) c.302A>C (p.Lys101Thr) c.320A>C (p.Lys107Thr) | gnomAD v4 |
| 8 | g.22163926A>G | CA370538277 | SFTPC | c.461A>G (p.Lys154Arg) c.479A>G (p.Lys160Arg) c.*106A>G (n.*106A>G) c.277-340A>G (n.277-340A>G) c.*362A>G (n.*362A>G) c.302A>G (p.Lys101Arg) c.320A>G (p.Lys107Arg) | |
| 8 | g.22163926A>T | CA370538278 | SFTPC | c.461A>T (p.Lys154Met) c.479A>T (p.Lys160Met) c.*106A>T (n.*106A>T) c.277-340A>T (n.277-340A>T) c.*362A>T (n.*362A>T) c.302A>T (p.Lys101Met) c.320A>T (p.Lys107Met) | |
| 8 | g.22163927G>A | CA4664064 | SFTPC | c.462G>A (p.Lys154=) c.480G>A (p.Lys160=) c.*107G>A (n.*107G>A) c.277-339G>A (n.277-339G>A) c.*363G>A (n.*363G>A) c.303G>A (p.Lys101=) c.321G>A (p.Lys107=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163927G>C | CA370538279 | SFTPC | c.462G>C (p.Lys154Asn) c.480G>C (p.Lys160Asn) c.*107G>C (n.*107G>C) c.277-339G>C (n.277-339G>C) c.*363G>C (n.*363G>C) c.303G>C (p.Lys101Asn) c.321G>C (p.Lys107Asn) | |
| 8 | g.22163927G= | CA1770260283 | SFTPC | c.462G= (p.Lys154=) c.480G= (p.Lys160=) c.*107G= (n.*107G=) c.277-339G= (n.277-339G=) c.*363G= (n.*363G=) c.303G= (p.Lys101=) c.321G= (p.Lys107=) | |
| 8 | g.22163927G>T | CA370538280 | SFTPC | c.462G>T (p.Lys154Asn) c.480G>T (p.Lys160Asn) c.*107G>T (n.*107G>T) c.277-339G>T (n.277-339G>T) c.*363G>T (n.*363G>T) c.303G>T (p.Lys101Asn) c.321G>T (p.Lys107Asn) | |
| 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) | |
| 8 | g.22163941A>T | CA370538310 | SFTPC | c.476A>T (p.Glu159Val) c.494A>T (p.Glu165Val) c.*121A>T (n.*121A>T) c.277-325A>T (n.277-325A>T) c.*377A>T (n.*377A>T) c.317A>T (p.Glu106Val) c.335A>T (p.Glu112Val) | |
| 8 | g.22163942G>A | CA460170572 | SFTPC | c.477G>A (p.Glu159=) c.495G>A (p.Glu165=) c.*122G>A (n.*122G>A) c.277-324G>A (n.277-324G>A) c.*378G>A (n.*378G>A) c.318G>A (p.Glu106=) c.336G>A (p.Glu112=) | gnomAD v4 |
| 8 | g.22163942G>C | CA370538311 | SFTPC | c.477G>C (p.Glu159Asp) c.495G>C (p.Glu165Asp) c.*122G>C (n.*122G>C) c.277-324G>C (n.277-324G>C) c.*378G>C (n.*378G>C) c.318G>C (p.Glu106Asp) c.336G>C (p.Glu112Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163942G= | CA1770260332 | SFTPC | c.477G= (p.Glu159=) c.495G= (p.Glu165=) c.*122G= (n.*122G=) c.277-324G= (n.277-324G=) c.*378G= (n.*378G=) c.318G= (p.Glu106=) c.336G= (p.Glu112=) | |
| 8 | g.22163942G>T | CA370538312 | SFTPC | c.477G>T (p.Glu159Asp) c.495G>T (p.Glu165Asp) c.*122G>T (n.*122G>T) c.277-324G>T (n.277-324G>T) c.*378G>T (n.*378G>T) c.318G>T (p.Glu106Asp) c.336G>T (p.Glu112Asp) | |
| 8 | g.22163945dup | CA2580078067 | SFTPC | c.480dup (p.Arg161AlafsTer?) c.498dup (p.Arg167AlafsTer?) c.*125dup (n.*125dup) c.277-321dup (n.277-321dup) c.*381dup (n.*381dup) c.321dup (p.Arg108AlafsTer?) c.339dup (p.Arg114AlafsTer?) | ClinVar |
| 8 | g.22163943G>A | CA370538315 | SFTPC | c.478G>A (p.Gly160Arg) c.496G>A (p.Gly166Arg) c.*123G>A (n.*123G>A) c.277-323G>A (n.277-323G>A) c.*379G>A (n.*379G>A) c.319G>A (p.Gly107Arg) c.337G>A (p.Gly113Arg) | dbSNP |
| 8 | g.22163943G>C | CA370538314 | SFTPC | c.478G>C (p.Gly160Arg) c.496G>C (p.Gly166Arg) c.*123G>C (n.*123G>C) c.277-323G>C (n.277-323G>C) c.*379G>C (n.*379G>C) c.319G>C (p.Gly107Arg) c.337G>C (p.Gly113Arg) | |
| 8 | g.22163943G= | CA1770260335 | SFTPC | c.478G= (p.Gly160=) c.496G= (p.Gly166=) c.*123G= (n.*123G=) c.277-323G= (n.277-323G=) c.*379G= (n.*379G=) c.319G= (p.Gly107=) c.337G= (p.Gly113=) | |
| 8 | g.22163943G>T | CA370538313 | SFTPC | c.478G>T (p.Gly160Trp) c.496G>T (p.Gly166Trp) c.*123G>T (n.*123G>T) c.277-323G>T (n.277-323G>T) c.*379G>T (n.*379G>T) c.319G>T (p.Gly107Trp) c.337G>T (p.Gly113Trp) | |
| 8 | g.22163944G>A | CA173483977 | SFTPC | c.479G>A (p.Gly160Glu) c.497G>A (p.Gly166Glu) c.*124G>A (n.*124G>A) c.277-322G>A (n.277-322G>A) c.*380G>A (n.*380G>A) c.320G>A (p.Gly107Glu) c.338G>A (p.Gly113Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22163944G>C | CA370538316 | SFTPC | c.479G>C (p.Gly160Ala) c.497G>C (p.Gly166Ala) c.*124G>C (n.*124G>C) c.277-322G>C (n.277-322G>C) c.*380G>C (n.*380G>C) c.320G>C (p.Gly107Ala) c.338G>C (p.Gly113Ala) | |
| 8 | g.22163944G= | CA1770260339 | SFTPC | c.479G= (p.Gly160=) c.497G= (p.Gly166=) c.*124G= (n.*124G=) c.277-322G= (n.277-322G=) c.*380G= (n.*380G=) c.320G= (p.Gly107=) c.338G= (p.Gly113=) | |
| 8 | g.22163944G>T | CA370538317 | SFTPC | c.479G>T (p.Gly160Val) c.497G>T (p.Gly166Val) c.*124G>T (n.*124G>T) c.277-322G>T (n.277-322G>T) c.*380G>T (n.*380G>T) c.320G>T (p.Gly107Val) c.338G>T (p.Gly113Val) | |
| 8 | g.22163945G>A | CA4664066 | SFTPC | c.480G>A (p.Gly160=) c.498G>A (p.Gly166=) c.*125G>A (n.*125G>A) c.277-321G>A (n.277-321G>A) c.*381G>A (n.*381G>A) c.321G>A (p.Gly107=) c.339G>A (p.Gly113=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163945G>C | CA460170577 | SFTPC | c.480G>C (p.Gly160=) c.498G>C (p.Gly166=) c.*125G>C (n.*125G>C) c.277-321G>C (n.277-321G>C) c.*381G>C (n.*381G>C) c.321G>C (p.Gly107=) c.339G>C (p.Gly113=) | |
| 8 | g.22163945G= | CA1770260345 | SFTPC | c.480G= (p.Gly160=) c.498G= (p.Gly166=) c.*125G= (n.*125G=) c.277-321G= (n.277-321G=) c.*381G= (n.*381G=) c.321G= (p.Gly107=) c.339G= (p.Gly113=) | |
| 8 | g.22163945G>T | CA460170576 | SFTPC | c.480G>T (p.Gly160=) c.498G>T (p.Gly166=) c.*125G>T (n.*125G>T) c.277-321G>T (n.277-321G>T) c.*381G>T (n.*381G>T) c.321G>T (p.Gly107=) c.339G>T (p.Gly113=) | |
| 8 | g.22163946C>A | CA460170581 | SFTPC | c.481C>A (p.Arg161=) c.499C>A (p.Arg167=) c.*126C>A (n.*126C>A) c.277-320C>A (n.277-320C>A) c.*382C>A (n.*382C>A) c.322C>A (p.Arg108=) c.340C>A (p.Arg114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163946C= | CA1770260350 | SFTPC | c.481C= (p.Arg161=) c.499C= (p.Arg167=) c.*126C= (n.*126C=) c.277-320C= (n.277-320C=) c.*382C= (n.*382C=) c.322C= (p.Arg108=) c.340C= (p.Arg114=) | |
| 8 | g.22163946C>G | CA370538318 | SFTPC | c.481C>G (p.Arg161Gly) c.499C>G (p.Arg167Gly) c.*126C>G (n.*126C>G) c.277-320C>G (n.277-320C>G) c.*382C>G (n.*382C>G) c.322C>G (p.Arg108Gly) c.340C>G (p.Arg114Gly) | |
| 8 | g.22163946C>T | CA370538319 | SFTPC | c.481C>T (p.Arg161Ter) c.499C>T (p.Arg167Ter) c.*126C>T (n.*126C>T) c.277-320C>T (n.277-320C>T) c.*382C>T (n.*382C>T) c.322C>T (p.Arg108Ter) c.340C>T (p.Arg114Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163947G>A | CA210538 | SFTPC | c.482G>A (p.Arg161Gln) c.500G>A (p.Arg167Gln) c.*127G>A (n.*127G>A) c.277-319G>A (n.277-319G>A) c.*383G>A (n.*383G>A) c.323G>A (p.Arg108Gln) c.341G>A (p.Arg114Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163947G>C | CA370538320 | SFTPC | c.482G>C (p.Arg161Pro) c.500G>C (p.Arg167Pro) c.*127G>C (n.*127G>C) c.277-319G>C (n.277-319G>C) c.*383G>C (n.*383G>C) c.323G>C (p.Arg108Pro) c.341G>C (p.Arg114Pro) | |
| 8 | g.22163947G= | CA1770260356 | SFTPC | c.482G= (p.Arg161=) c.500G= (p.Arg167=) c.*127G= (n.*127G=) c.277-319G= (n.277-319G=) c.*383G= (n.*383G=) c.323G= (p.Arg108=) c.341G= (p.Arg114=) | |
| 8 | g.22163947G>T | CA370538321 | SFTPC | c.482G>T (p.Arg161Leu) c.500G>T (p.Arg167Leu) c.*127G>T (n.*127G>T) c.277-319G>T (n.277-319G>T) c.*383G>T (n.*383G>T) c.323G>T (p.Arg108Leu) c.341G>T (p.Arg114Leu) | gnomAD v4 |
| 8 | g.22163948A>C | CA460170585 | SFTPC | c.483A>C (p.Arg161=) c.501A>C (p.Arg167=) c.*128A>C (n.*128A>C) c.277-318A>C (n.277-318A>C) c.*384A>C (n.*384A>C) c.324A>C (p.Arg108=) c.342A>C (p.Arg114=) | |
| 8 | g.22163948A>G | CA460170589 | SFTPC | c.483A>G (p.Arg161=) c.501A>G (p.Arg167=) c.*128A>G (n.*128A>G) c.277-318A>G (n.277-318A>G) c.*384A>G (n.*384A>G) c.324A>G (p.Arg108=) c.342A>G (p.Arg114=) | |
| 8 | g.22163948A>T | CA460170587 | SFTPC | c.483A>T (p.Arg161=) c.501A>T (p.Arg167=) c.*128A>T (n.*128A>T) c.277-318A>T (n.277-318A>T) c.*384A>T (n.*384A>T) c.324A>T (p.Arg108=) c.342A>T (p.Arg114=) | |
| 8 | g.22163949G>A | CA370538322 | SFTPC | c.484G>A (p.Asp162Asn) c.502G>A (p.Asp168Asn) c.*129G>A (n.*129G>A) c.277-317G>A (n.277-317G>A) c.*385G>A (n.*385G>A) c.325G>A (p.Asp109Asn) c.343G>A (p.Asp115Asn) | |
| 8 | g.22163949G>C | CA370538323 | SFTPC | c.484G>C (p.Asp162His) c.502G>C (p.Asp168His) c.*129G>C (n.*129G>C) c.277-317G>C (n.277-317G>C) c.*385G>C (n.*385G>C) c.325G>C (p.Asp109His) c.343G>C (p.Asp115His) | gnomAD v4 |
| 8 | g.22163949G>T | CA370538324 | SFTPC | c.484G>T (p.Asp162Tyr) c.502G>T (p.Asp168Tyr) c.*129G>T (n.*129G>T) c.277-317G>T (n.277-317G>T) c.*385G>T (n.*385G>T) c.325G>T (p.Asp109Tyr) c.343G>T (p.Asp115Tyr) | |
| 8 | g.22163950A>C | CA370538326 | SFTPC | c.485A>C (p.Asp162Ala) c.503A>C (p.Asp168Ala) c.*130A>C (n.*130A>C) c.277-316A>C (n.277-316A>C) c.*386A>C (n.*386A>C) c.326A>C (p.Asp109Ala) c.344A>C (p.Asp115Ala) | |
| 8 | g.22163950A>G | CA370538327 | SFTPC | c.485A>G (p.Asp162Gly) c.503A>G (p.Asp168Gly) c.*130A>G (n.*130A>G) c.277-316A>G (n.277-316A>G) c.*386A>G (n.*386A>G) c.326A>G (p.Asp109Gly) c.344A>G (p.Asp115Gly) | |
| 8 | g.22163950A>T | CA370538325 | SFTPC | c.485A>T (p.Asp162Val) c.503A>T (p.Asp168Val) c.*130A>T (n.*130A>T) c.277-316A>T (n.277-316A>T) c.*386A>T (n.*386A>T) c.326A>T (p.Asp109Val) c.344A>T (p.Asp115Val) | |
| 8 | g.22163951T>A | CA370538328 | SFTPC | c.486T>A (p.Asp162Glu) c.504T>A (p.Asp168Glu) c.*131T>A (n.*131T>A) c.277-315T>A (n.277-315T>A) c.*387T>A (n.*387T>A) c.327T>A (p.Asp109Glu) c.345T>A (p.Asp115Glu) | |
| 8 | g.22163951T>C | CA460170593 | SFTPC | c.486T>C (p.Asp162=) c.504T>C (p.Asp168=) c.*131T>C (n.*131T>C) c.277-315T>C (n.277-315T>C) c.*387T>C (n.*387T>C) c.327T>C (p.Asp109=) c.345T>C (p.Asp115=) | dbSNP gnomAD v4 |
| 8 | g.22163951T>G | CA370538329 | SFTPC | c.486T>G (p.Asp162Glu) c.504T>G (p.Asp168Glu) c.*131T>G (n.*131T>G) c.277-315T>G (n.277-315T>G) c.*387T>G (n.*387T>G) c.327T>G (p.Asp109Glu) c.345T>G (p.Asp115Glu) | |
| 8 | g.22163951T= | CA1770260370 | SFTPC | c.486T= (p.Asp162=) c.504T= (p.Asp168=) c.*131T= (n.*131T=) c.277-315T= (n.277-315T=) c.*387T= (n.*387T=) c.327T= (p.Asp109=) c.345T= (p.Asp115=) | |
| 8 | g.22163952G>A | CA370538330 | SFTPC | c.487G>A (p.Ala163Thr) c.505G>A (p.Ala169Thr) c.*132G>A (n.*132G>A) c.277-314G>A (n.277-314G>A) c.*388G>A (n.*388G>A) c.328G>A (p.Ala110Thr) c.346G>A (p.Ala116Thr) | |
| 8 | g.22163952G>C | CA370538331 | SFTPC | c.487G>C (p.Ala163Pro) c.505G>C (p.Ala169Pro) c.*132G>C (n.*132G>C) c.277-314G>C (n.277-314G>C) c.*388G>C (n.*388G>C) c.328G>C (p.Ala110Pro) c.346G>C (p.Ala116Pro) | |
| 8 | g.22163952G>T | CA370538332 | SFTPC | c.487G>T (p.Ala163Ser) c.505G>T (p.Ala169Ser) c.*132G>T (n.*132G>T) c.277-314G>T (n.277-314G>T) c.*388G>T (n.*388G>T) c.328G>T (p.Ala110Ser) c.346G>T (p.Ala116Ser) | |
| 8 | g.22163953C>A | CA370538335 | SFTPC | c.488C>A (p.Ala163Glu) c.506C>A (p.Ala169Glu) c.*133C>A (n.*133C>A) c.277-313C>A (n.277-313C>A) c.*389C>A (n.*389C>A) c.329C>A (p.Ala110Glu) c.347C>A (p.Ala116Glu) | |
| 8 | g.22163953C>G | CA370538333 | SFTPC | c.488C>G (p.Ala163Gly) c.506C>G (p.Ala169Gly) c.*133C>G (n.*133C>G) c.277-313C>G (n.277-313C>G) c.*389C>G (n.*389C>G) c.329C>G (p.Ala110Gly) c.347C>G (p.Ala116Gly) | |
| 8 | g.22163953C>T | CA370538334 | SFTPC | c.488C>T (p.Ala163Val) c.506C>T (p.Ala169Val) c.*133C>T (n.*133C>T) c.277-313C>T (n.277-313C>T) c.*389C>T (n.*389C>T) c.329C>T (p.Ala110Val) c.347C>T (p.Ala116Val) | |
| 8 | g.22163954A= | CA1770260379 | SFTPC | c.489A= (p.Ala163=) c.507A= (p.Ala169=) c.*134A= (n.*134A=) c.277-312A= (n.277-312A=) c.*390A= (n.*390A=) c.330A= (p.Ala110=) c.348A= (p.Ala116=) | |
| 8 | g.22163954A>C | CA460170597 | SFTPC | c.489A>C (p.Ala163=) c.507A>C (p.Ala169=) c.*134A>C (n.*134A>C) c.277-312A>C (n.277-312A>C) c.*390A>C (n.*390A>C) c.330A>C (p.Ala110=) c.348A>C (p.Ala116=) | |
| 8 | g.22163954A>G | CA460170598 | SFTPC | c.489A>G (p.Ala163=) c.507A>G (p.Ala169=) c.*134A>G (n.*134A>G) c.277-312A>G (n.277-312A>G) c.*390A>G (n.*390A>G) c.330A>G (p.Ala110=) c.348A>G (p.Ala116=) | |
| 8 | g.22163954A>T | CA460170600 | SFTPC | c.489A>T (p.Ala163=) c.507A>T (p.Ala169=) c.*134A>T (n.*134A>T) c.277-312A>T (n.277-312A>T) c.*390A>T (n.*390A>T) c.330A>T (p.Ala110=) c.348A>T (p.Ala116=) | dbSNP |
| 8 | g.22163955G>A | CA4664067 | SFTPC | c.490G>A (p.Gly164Ser) c.508G>A (p.Gly170Ser) c.*135G>A (n.*135G>A) c.277-311G>A (n.277-311G>A) c.*391G>A (n.*391G>A) c.331G>A (p.Gly111Ser) c.349G>A (p.Gly117Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.22163955G>C | CA370538336 | SFTPC | c.490G>C (p.Gly164Arg) c.508G>C (p.Gly170Arg) c.*135G>C (n.*135G>C) c.277-311G>C (n.277-311G>C) c.*391G>C (n.*391G>C) c.331G>C (p.Gly111Arg) c.349G>C (p.Gly117Arg) | dbSNP gnomAD v4 |
| 8 | g.22163955G= | CA1770260384 | SFTPC | c.490G= (p.Gly164=) c.508G= (p.Gly170=) c.*135G= (n.*135G=) c.277-311G= (n.277-311G=) c.*391G= (n.*391G=) c.331G= (p.Gly111=) c.349G= (p.Gly117=) | |
| 8 | g.22163955G>T | CA370538337 | SFTPC | c.490G>T (p.Gly164Cys) c.508G>T (p.Gly170Cys) c.*135G>T (n.*135G>T) c.277-311G>T (n.277-311G>T) c.*391G>T (n.*391G>T) c.331G>T (p.Gly111Cys) c.349G>T (p.Gly117Cys) | |
| 8 | g.22163956G>A | CA370538338 | SFTPC | c.491G>A (p.Gly164Asp) c.509G>A (p.Gly170Asp) c.*136G>A (n.*136G>A) c.277-310G>A (n.277-310G>A) c.*392G>A (n.*392G>A) c.332G>A (p.Gly111Asp) c.350G>A (p.Gly117Asp) | gnomAD v4 |
| 8 | g.22163956G>C | CA370538339 | SFTPC | c.491G>C (p.Gly164Ala) c.509G>C (p.Gly170Ala) c.*136G>C (n.*136G>C) c.277-310G>C (n.277-310G>C) c.*392G>C (n.*392G>C) c.332G>C (p.Gly111Ala) c.350G>C (p.Gly117Ala) | |
| 8 | g.22163956G>T | CA370538340 | SFTPC | c.491G>T (p.Gly164Val) c.509G>T (p.Gly170Val) c.*136G>T (n.*136G>T) c.277-310G>T (n.277-310G>T) c.*392G>T (n.*392G>T) c.332G>T (p.Gly111Val) c.350G>T (p.Gly117Val) | |
| 8 | g.22163957C>A | CA460170605 | SFTPC | c.492C>A (p.Gly164=) c.510C>A (p.Gly170=) c.*137C>A (n.*137C>A) c.277-309C>A (n.277-309C>A) c.*393C>A (n.*393C>A) c.333C>A (p.Gly111=) c.351C>A (p.Gly117=) | |
| 8 | g.22163957C>G | CA460170606 | SFTPC | c.492C>G (p.Gly164=) c.510C>G (p.Gly170=) c.*137C>G (n.*137C>G) c.277-309C>G (n.277-309C>G) c.*393C>G (n.*393C>G) c.333C>G (p.Gly111=) c.351C>G (p.Gly117=) | |
| 8 | g.22163957C>T | CA460170607 | SFTPC | c.492C>T (p.Gly164=) c.510C>T (p.Gly170=) c.*137C>T (n.*137C>T) c.277-309C>T (n.277-309C>T) c.*393C>T (n.*393C>T) c.333C>T (p.Gly111=) c.351C>T (p.Gly117=) | |
| 8 | g.22163958T>A | CA370538343 | SFTPC | c.493T>A (p.Ser165Thr) c.511T>A (p.Ser171Thr) c.*138T>A (n.*138T>A) c.277-308T>A (n.277-308T>A) c.*394T>A (n.*394T>A) c.334T>A (p.Ser112Thr) c.352T>A (p.Ser118Thr) | |
| 8 | g.22163958T>C | CA370538342 | SFTPC | c.493T>C (p.Ser165Pro) c.511T>C (p.Ser171Pro) c.*138T>C (n.*138T>C) c.277-308T>C (n.277-308T>C) c.*394T>C (n.*394T>C) c.334T>C (p.Ser112Pro) c.352T>C (p.Ser118Pro) | |
| 8 | g.22163958T>G | CA370538341 | SFTPC | c.493T>G (p.Ser165Ala) c.511T>G (p.Ser171Ala) c.*138T>G (n.*138T>G) c.277-308T>G (n.277-308T>G) c.*394T>G (n.*394T>G) c.334T>G (p.Ser112Ala) c.352T>G (p.Ser118Ala) | |
| 8 | g.22163959C>A | CA370538345 | SFTPC | c.494C>A (p.Ser165Ter) c.512C>A (p.Ser171Ter) c.*139C>A (n.*139C>A) c.277-307C>A (n.277-307C>A) c.*395C>A (n.*395C>A) c.335C>A (p.Ser112Ter) c.353C>A (p.Ser118Ter) | |
| 8 | g.22163959C= | CA1770260386 | SFTPC | c.494C= (p.Ser165=) c.512C= (p.Ser171=) c.*139C= (n.*139C=) c.277-307C= (n.277-307C=) c.*395C= (n.*395C=) c.335C= (p.Ser112=) c.353C= (p.Ser118=) | |
| 8 | g.22163959C>G | CA370538344 | SFTPC | c.494C>G (p.Ser165Ter) c.512C>G (p.Ser171Ter) c.*139C>G (n.*139C>G) c.277-307C>G (n.277-307C>G) c.*395C>G (n.*395C>G) c.335C>G (p.Ser112Ter) c.353C>G (p.Ser118Ter) | |
| 8 | g.22163959C>T | CA4664068 | SFTPC | c.494C>T (p.Ser165Leu) c.512C>T (p.Ser171Leu) c.*139C>T (n.*139C>T) c.277-307C>T (n.277-307C>T) c.*395C>T (n.*395C>T) c.335C>T (p.Ser112Leu) c.353C>T (p.Ser118Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.22163960A>C | CA460170614 | SFTPC | c.495A>C (p.Ser165=) c.513A>C (p.Ser171=) c.*140A>C (n.*140A>C) c.277-306A>C (n.277-306A>C) c.*396A>C (n.*396A>C) c.336A>C (p.Ser112=) c.354A>C (p.Ser118=) | |
| 8 | g.22163960A>G | CA460170616 | SFTPC | c.495A>G (p.Ser165=) c.513A>G (p.Ser171=) c.*140A>G (n.*140A>G) c.277-306A>G (n.277-306A>G) c.*396A>G (n.*396A>G) c.336A>G (p.Ser112=) c.354A>G (p.Ser118=) | |
| 8 | g.22163960A>T | CA460170617 | SFTPC | c.495A>T (p.Ser165=) c.513A>T (p.Ser171=) c.*140A>T (n.*140A>T) c.277-306A>T (n.277-306A>T) c.*396A>T (n.*396A>T) c.336A>T (p.Ser112=) c.354A>T (p.Ser118=) | |
| 8 | g.22163961G>A | CA370538346 | SFTPC | c.496G>A (p.Ala166Thr) c.514G>A (p.Ala172Thr) c.*141G>A (n.*141G>A) c.277-305G>A (n.277-305G>A) c.*397G>A (n.*397G>A) c.337G>A (p.Ala113Thr) c.355G>A (p.Ala119Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22163961G>C | CA370538348 | SFTPC | c.496G>C (p.Ala166Pro) c.514G>C (p.Ala172Pro) c.*141G>C (n.*141G>C) c.277-305G>C (n.277-305G>C) c.*397G>C (n.*397G>C) c.337G>C (p.Ala113Pro) c.355G>C (p.Ala119Pro) | gnomAD v4 |
| 8 | g.22163961G= | CA1770260394 | SFTPC | c.496G= (p.Ala166=) c.514G= (p.Ala172=) c.*141G= (n.*141G=) c.277-305G= (n.277-305G=) c.*397G= (n.*397G=) c.337G= (p.Ala113=) c.355G= (p.Ala119=) | |
| 8 | g.22163961G>T | CA370538347 | SFTPC | c.496G>T (p.Ala166Ser) c.514G>T (p.Ala172Ser) c.*141G>T (n.*141G>T) c.277-305G>T (n.277-305G>T) c.*397G>T (n.*397G>T) c.337G>T (p.Ala113Ser) c.355G>T (p.Ala119Ser) | |
| 8 | g.22163962C>A | CA370538349 | SFTPC | c.497C>A (p.Ala166Glu) c.515C>A (p.Ala172Glu) c.*142C>A (n.*142C>A) c.277-304C>A (n.277-304C>A) c.*398C>A (n.*398C>A) c.338C>A (p.Ala113Glu) c.356C>A (p.Ala119Glu) | |
| 8 | g.22163962C>G | CA370538350 | SFTPC | c.497C>G (p.Ala166Gly) c.515C>G (p.Ala172Gly) c.*142C>G (n.*142C>G) c.277-304C>G (n.277-304C>G) c.*398C>G (n.*398C>G) c.338C>G (p.Ala113Gly) c.356C>G (p.Ala119Gly) | |
| 8 | g.22163962C>T | CA370538351 | SFTPC | c.497C>T (p.Ala166Val) c.515C>T (p.Ala172Val) c.*142C>T (n.*142C>T) c.277-304C>T (n.277-304C>T) c.*398C>T (n.*398C>T) c.338C>T (p.Ala113Val) c.356C>T (p.Ala119Val) | gnomAD v4 |
| 8 | g.22163963A= | CA1770260395 | SFTPC | c.498A= (p.Ala166=) c.516A= (p.Ala172=) c.*143A= (n.*143A=) c.277-303A= (n.277-303A=) c.*399A= (n.*399A=) c.339A= (p.Ala113=) c.357A= (p.Ala119=) | |
| 8 | g.22163963A>C | CA460170622 | SFTPC | c.498A>C (p.Ala166=) c.516A>C (p.Ala172=) c.*143A>C (n.*143A>C) c.277-303A>C (n.277-303A>C) c.*399A>C (n.*399A>C) c.339A>C (p.Ala113=) c.357A>C (p.Ala119=) | dbSNP |
| 8 | g.22163963A>G | CA460170624 | SFTPC | c.498A>G (p.Ala166=) c.516A>G (p.Ala172=) c.*143A>G (n.*143A>G) c.277-303A>G (n.277-303A>G) c.*399A>G (n.*399A>G) c.339A>G (p.Ala113=) c.357A>G (p.Ala119=) | dbSNP |
| 8 | g.22163963A>T | CA460170625 | SFTPC | c.498A>T (p.Ala166=) c.516A>T (p.Ala172=) c.*143A>T (n.*143A>T) c.277-303A>T (n.277-303A>T) c.*399A>T (n.*399A>T) c.339A>T (p.Ala113=) c.357A>T (p.Ala119=) | |
| 8 | g.22163964C>A | CA370538352 | SFTPC | c.499C>A (p.Pro167Thr) c.517C>A (p.Pro173Thr) c.*144C>A (n.*144C>A) c.277-302C>A (n.277-302C>A) c.*400C>A (n.*400C>A) c.340C>A (p.Pro114Thr) c.358C>A (p.Pro120Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22163964C= | CA1770260401 | SFTPC | c.499C= (p.Pro167=) c.517C= (p.Pro173=) c.*144C= (n.*144C=) c.277-302C= (n.277-302C=) c.*400C= (n.*400C=) c.340C= (p.Pro114=) c.358C= (p.Pro120=) | |
| 8 | g.22163964C>G | CA370538353 | SFTPC | c.499C>G (p.Pro167Ala) c.517C>G (p.Pro173Ala) c.*144C>G (n.*144C>G) c.277-302C>G (n.277-302C>G) c.*400C>G (n.*400C>G) c.340C>G (p.Pro114Ala) c.358C>G (p.Pro120Ala) | |
| 8 | g.22163964C>T | CA370538354 | SFTPC | c.499C>T (p.Pro167Ser) c.517C>T (p.Pro173Ser) c.*144C>T (n.*144C>T) c.277-302C>T (n.277-302C>T) c.*400C>T (n.*400C>T) c.340C>T (p.Pro114Ser) c.358C>T (p.Pro120Ser) | gnomAD v4 |
| 8 | g.22163965C>A | CA370538355 | SFTPC | c.500C>A (p.Pro167His) c.518C>A (p.Pro173His) c.*145C>A (n.*145C>A) c.277-301C>A (n.277-301C>A) c.*401C>A (n.*401C>A) c.341C>A (p.Pro114His) c.359C>A (p.Pro120His) | gnomAD v4 |
| 8 | g.22163965C= | CA1770260405 | SFTPC | c.500C= (p.Pro167=) c.518C= (p.Pro173=) c.*145C= (n.*145C=) c.277-301C= (n.277-301C=) c.*401C= (n.*401C=) c.341C= (p.Pro114=) c.359C= (p.Pro120=) | |
| 8 | g.22163965C>G | CA370538356 | SFTPC | c.500C>G (p.Pro167Arg) c.518C>G (p.Pro173Arg) c.*145C>G (n.*145C>G) c.277-301C>G (n.277-301C>G) c.*401C>G (n.*401C>G) c.341C>G (p.Pro114Arg) c.359C>G (p.Pro120Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22163965C>T | CA370538357 | SFTPC | c.500C>T (p.Pro167Leu) c.518C>T (p.Pro173Leu) c.*145C>T (n.*145C>T) c.277-301C>T (n.277-301C>T) c.*401C>T (n.*401C>T) c.341C>T (p.Pro114Leu) c.359C>T (p.Pro120Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22163966C>A | CA460170627 | SFTPC | c.501C>A (p.Pro167=) c.519C>A (p.Pro173=) c.*146C>A (n.*146C>A) c.277-300C>A (n.277-300C>A) c.*402C>A (n.*402C>A) c.342C>A (p.Pro114=) c.360C>A (p.Pro120=) | |
| 8 | g.22163966C>G | CA460170628 | SFTPC | c.501C>G (p.Pro167=) c.519C>G (p.Pro173=) c.*146C>G (n.*146C>G) c.277-300C>G (n.277-300C>G) c.*402C>G (n.*402C>G) c.342C>G (p.Pro114=) c.360C>G (p.Pro120=) | |
| 8 | g.22163966C>T | CA460170629 | SFTPC | c.501C>T (p.Pro167=) c.519C>T (p.Pro173=) c.*146C>T (n.*146C>T) c.277-300C>T (n.277-300C>T) c.*402C>T (n.*402C>T) c.342C>T (p.Pro114=) c.360C>T (p.Pro120=) | |
| 8 | g.22163967T>A | CA4664069 | SFTPC | c.502T>A (p.Ser168Thr) c.520T>A (p.Ser174Thr) c.*147T>A (n.*147T>A) c.277-299T>A (n.277-299T>A) c.*403T>A (n.*403T>A) c.343T>A (p.Ser115Thr) c.361T>A (p.Ser121Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163967T>C | CA370538358 | SFTPC | c.502T>C (p.Ser168Pro) c.520T>C (p.Ser174Pro) c.*147T>C (n.*147T>C) c.277-299T>C (n.277-299T>C) c.*403T>C (n.*403T>C) c.343T>C (p.Ser115Pro) c.361T>C (p.Ser121Pro) | |
| 8 | g.22163967T>G | CA370538359 | SFTPC | c.502T>G (p.Ser168Ala) c.520T>G (p.Ser174Ala) c.*147T>G (n.*147T>G) c.277-299T>G (n.277-299T>G) c.*403T>G (n.*403T>G) c.343T>G (p.Ser115Ala) c.361T>G (p.Ser121Ala) | |
| 8 | g.22163967T= | CA1770260409 | SFTPC | c.502T= (p.Ser168=) c.520T= (p.Ser174=) c.*147T= (n.*147T=) c.277-299T= (n.277-299T=) c.*403T= (n.*403T=) c.343T= (p.Ser115=) c.361T= (p.Ser121=) | |
| 8 | g.22163968C>A | CA370538360 | SFTPC | c.503C>A (p.Ser168Tyr) c.521C>A (p.Ser174Tyr) c.*148C>A (n.*148C>A) c.277-298C>A (n.277-298C>A) c.*404C>A (n.*404C>A) c.344C>A (p.Ser115Tyr) c.362C>A (p.Ser121Tyr) | |
| 8 | g.22163968C>G | CA370538362 | SFTPC | c.503C>G (p.Ser168Cys) c.521C>G (p.Ser174Cys) c.*148C>G (n.*148C>G) c.277-298C>G (n.277-298C>G) c.*404C>G (n.*404C>G) c.344C>G (p.Ser115Cys) c.362C>G (p.Ser121Cys) | |
| 8 | g.22163968C>T | CA370538361 | SFTPC | c.503C>T (p.Ser168Phe) c.521C>T (p.Ser174Phe) c.*148C>T (n.*148C>T) c.277-298C>T (n.277-298C>T) c.*404C>T (n.*404C>T) c.344C>T (p.Ser115Phe) c.362C>T (p.Ser121Phe) | gnomAD v4 |
| 8 | g.22163969C>A | CA460170637 | SFTPC | c.504C>A (p.Ser168=) c.522C>A (p.Ser174=) c.*149C>A (n.*149C>A) c.277-297C>A (n.277-297C>A) c.*405C>A (n.*405C>A) c.345C>A (p.Ser115=) c.363C>A (p.Ser121=) | |
| 8 | g.22163969C>G | CA460170636 | SFTPC | c.504C>G (p.Ser168=) c.522C>G (p.Ser174=) c.*149C>G (n.*149C>G) c.277-297C>G (n.277-297C>G) c.*405C>G (n.*405C>G) c.345C>G (p.Ser115=) c.363C>G (p.Ser121=) | |
| 8 | g.22163969C>T | CA460170635 | SFTPC | c.504C>T (p.Ser168=) c.522C>T (p.Ser174=) c.*149C>T (n.*149C>T) c.277-297C>T (n.277-297C>T) c.*405C>T (n.*405C>T) c.345C>T (p.Ser115=) c.363C>T (p.Ser121=) | gnomAD v4 |
| 8 | g.22163970G>A | CA4664070 | SFTPC | c.505G>A (p.Gly169Arg) c.523G>A (p.Gly175Arg) c.*150G>A (n.*150G>A) c.277-296G>A (n.277-296G>A) c.*406G>A (n.*406G>A) c.346G>A (p.Gly116Arg) c.364G>A (p.Gly122Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163970G>C | CA370538363 | SFTPC | c.505G>C (p.Gly169Arg) c.523G>C (p.Gly175Arg) c.*150G>C (n.*150G>C) c.277-296G>C (n.277-296G>C) c.*406G>C (n.*406G>C) c.346G>C (p.Gly116Arg) c.364G>C (p.Gly122Arg) | |
| 8 | g.22163970G= | CA1770260417 | SFTPC | c.505G= (p.Gly169=) c.523G= (p.Gly175=) c.*150G= (n.*150G=) c.277-296G= (n.277-296G=) c.*406G= (n.*406G=) c.346G= (p.Gly116=) c.364G= (p.Gly122=) | |
| 8 | g.22163970G>T | CA370538364 | SFTPC | c.505G>T (p.Gly169Ter) c.523G>T (p.Gly175Ter) c.*150G>T (n.*150G>T) c.277-296G>T (n.277-296G>T) c.*406G>T (n.*406G>T) c.346G>T (p.Gly116Ter) c.364G>T (p.Gly122Ter) | dbSNP |
| 8 | g.22163971G>A | CA370538365 | SFTPC | c.506G>A (p.Gly169Glu) c.524G>A (p.Gly175Glu) c.*151G>A (n.*151G>A) c.277-295G>A (n.277-295G>A) c.*407G>A (n.*407G>A) c.347G>A (p.Gly116Glu) c.365G>A (p.Gly122Glu) | |
| 8 | g.22163971G>C | CA370538366 | SFTPC | c.506G>C (p.Gly169Ala) c.524G>C (p.Gly175Ala) c.*151G>C (n.*151G>C) c.277-295G>C (n.277-295G>C) c.*407G>C (n.*407G>C) c.347G>C (p.Gly116Ala) c.365G>C (p.Gly122Ala) | |
| 8 | g.22163971G>T | CA370538367 | SFTPC | c.506G>T (p.Gly169Val) c.524G>T (p.Gly175Val) c.*151G>T (n.*151G>T) c.277-295G>T (n.277-295G>T) c.*407G>T (n.*407G>T) c.347G>T (p.Gly116Val) c.365G>T (p.Gly122Val) | |
| 8 | g.22163972A>C | CA460170642 | SFTPC | c.507A>C (p.Gly169=) c.525A>C (p.Gly175=) c.*152A>C (n.*152A>C) c.277-294A>C (n.277-294A>C) c.*408A>C (n.*408A>C) c.348A>C (p.Gly116=) c.366A>C (p.Gly122=) | |
| 8 | g.22163972A>G | CA460170643 | SFTPC | c.507A>G (p.Gly169=) c.525A>G (p.Gly175=) c.*152A>G (n.*152A>G) c.277-294A>G (n.277-294A>G) c.*408A>G (n.*408A>G) c.348A>G (p.Gly116=) c.366A>G (p.Gly122=) | |
| 8 | g.22163972A>T | CA460170645 | SFTPC | c.507A>T (p.Gly169=) c.525A>T (p.Gly175=) c.*152A>T (n.*152A>T) c.277-294A>T (n.277-294A>T) c.*408A>T (n.*408A>T) c.348A>T (p.Gly116=) c.366A>T (p.Gly122=) | |
| 8 | g.22163973G>A | CA370538368 | SFTPC | c.508G>A (p.Gly170Arg) c.526G>A (p.Gly176Arg) c.*153G>A (n.*153G>A) c.277-293G>A (n.277-293G>A) c.*409G>A (n.*409G>A) c.349G>A (p.Gly117Arg) c.367G>A (p.Gly123Arg) | |
| 8 | g.22163973G>C | CA370538369 | SFTPC | c.508G>C (p.Gly170Arg) c.526G>C (p.Gly176Arg) c.*153G>C (n.*153G>C) c.277-293G>C (n.277-293G>C) c.*409G>C (n.*409G>C) c.349G>C (p.Gly117Arg) c.367G>C (p.Gly123Arg) | |
| 8 | g.22163973G= | CA1770260428 | SFTPC | c.508G= (p.Gly170=) c.526G= (p.Gly176=) c.*153G= (n.*153G=) c.277-293G= (n.277-293G=) c.*409G= (n.*409G=) c.349G= (p.Gly117=) c.367G= (p.Gly123=) | |
| 8 | g.22163973G>T | CA370538370 | SFTPC | c.508G>T (p.Gly170Trp) c.526G>T (p.Gly176Trp) c.*153G>T (n.*153G>T) c.277-293G>T (n.277-293G>T) c.*409G>T (n.*409G>T) c.349G>T (p.Gly117Trp) c.367G>T (p.Gly123Trp) | dbSNP gnomAD v2 |
| 8 | g.22163974G>A | CA4664071 | SFTPC | c.509G>A (p.Gly170Glu) c.527G>A (p.Gly176Glu) c.*154G>A (n.*154G>A) c.277-292G>A (n.277-292G>A) c.*410G>A (n.*410G>A) c.350G>A (p.Gly117Glu) c.368G>A (p.Gly123Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163974G>C | CA370538372 | SFTPC | c.509G>C (p.Gly170Ala) c.527G>C (p.Gly176Ala) c.*154G>C (n.*154G>C) c.277-292G>C (n.277-292G>C) c.*410G>C (n.*410G>C) c.350G>C (p.Gly117Ala) c.368G>C (p.Gly123Ala) | |
| 8 | g.22163974G= | CA1770260434 | SFTPC | c.509G= (p.Gly170=) c.527G= (p.Gly176=) c.*154G= (n.*154G=) c.277-292G= (n.277-292G=) c.*410G= (n.*410G=) c.350G= (p.Gly117=) c.368G= (p.Gly123=) | |
| 8 | g.22163974G>T | CA370538371 | SFTPC | c.509G>T (p.Gly170Val) c.527G>T (p.Gly176Val) c.*154G>T (n.*154G>T) c.277-292G>T (n.277-292G>T) c.*410G>T (n.*410G>T) c.350G>T (p.Gly117Val) c.368G>T (p.Gly123Val) | gnomAD v4 |
| 8 | g.22163975G>A | CA460170650 | SFTPC | c.510G>A (p.Gly170=) c.528G>A (p.Gly176=) c.*155G>A (n.*155G>A) c.277-291G>A (n.277-291G>A) c.*411G>A (n.*411G>A) c.351G>A (p.Gly117=) c.369G>A (p.Gly123=) | dbSNP gnomAD v4 |
| 8 | g.22163975G>C | CA460170656 | SFTPC | c.510G>C (p.Gly170=) c.528G>C (p.Gly176=) c.*155G>C (n.*155G>C) c.277-291G>C (n.277-291G>C) c.*411G>C (n.*411G>C) c.351G>C (p.Gly117=) c.369G>C (p.Gly123=) | gnomAD v4 |
| 8 | g.22163975G= | CA1770260437 | SFTPC | c.510G= (p.Gly170=) c.528G= (p.Gly176=) c.*155G= (n.*155G=) c.277-291G= (n.277-291G=) c.*411G= (n.*411G=) c.351G= (p.Gly117=) c.369G= (p.Gly123=) | |
| 8 | g.22163975G>T | CA460170653 | SFTPC | c.510G>T (p.Gly170=) c.528G>T (p.Gly176=) c.*155G>T (n.*155G>T) c.277-291G>T (n.277-291G>T) c.*411G>T (n.*411G>T) c.351G>T (p.Gly117=) c.369G>T (p.Gly123=) | gnomAD v4 |
| 8 | g.22163976G>A | CA370538373 | SFTPC | c.511G>A (p.Asp171Asn) c.529G>A (p.Asp177Asn) c.*156G>A (n.*156G>A) c.277-290G>A (n.277-290G>A) c.*412G>A (n.*412G>A) c.352G>A (p.Asp118Asn) c.370G>A (p.Asp124Asn) | |
| 8 | g.22163976G>C | CA370538374 | SFTPC | c.511G>C (p.Asp171His) c.529G>C (p.Asp177His) c.*156G>C (n.*156G>C) c.277-290G>C (n.277-290G>C) c.*412G>C (n.*412G>C) c.352G>C (p.Asp118His) c.370G>C (p.Asp124His) | |
| 8 | g.22163976G>T | CA370538375 | SFTPC | c.511G>T (p.Asp171Tyr) c.529G>T (p.Asp177Tyr) c.*156G>T (n.*156G>T) c.277-290G>T (n.277-290G>T) c.*412G>T (n.*412G>T) c.352G>T (p.Asp118Tyr) c.370G>T (p.Asp124Tyr) | |
| 8 | g.22163977A>C | CA370538376 | SFTPC | c.512A>C (p.Asp171Ala) c.530A>C (p.Asp177Ala) c.*157A>C (n.*157A>C) c.277-289A>C (n.277-289A>C) c.*413A>C (n.*413A>C) c.353A>C (p.Asp118Ala) c.371A>C (p.Asp124Ala) | |
| 8 | g.22163977A>G | CA370538377 | SFTPC | c.512A>G (p.Asp171Gly) c.530A>G (p.Asp177Gly) c.*157A>G (n.*157A>G) c.277-289A>G (n.277-289A>G) c.*413A>G (n.*413A>G) c.353A>G (p.Asp118Gly) c.371A>G (p.Asp124Gly) | |
| 8 | g.22163977A>T | CA370538378 | SFTPC | c.512A>T (p.Asp171Val) c.530A>T (p.Asp177Val) c.*157A>T (n.*157A>T) c.277-289A>T (n.277-289A>T) c.*413A>T (n.*413A>T) c.353A>T (p.Asp118Val) c.371A>T (p.Asp124Val) | |
| 8 | g.22163978C>A | CA370538379 | SFTPC | c.513C>A (p.Asp171Glu) c.531C>A (p.Asp177Glu) c.*158C>A (n.*158C>A) c.277-288C>A (n.277-288C>A) c.*414C>A (n.*414C>A) c.354C>A (p.Asp118Glu) c.372C>A (p.Asp124Glu) | |
| 8 | g.22163978C= | CA1770260438 | SFTPC | c.513C= (p.Asp171=) c.531C= (p.Asp177=) c.*158C= (n.*158C=) c.277-288C= (n.277-288C=) c.*414C= (n.*414C=) c.354C= (p.Asp118=) c.372C= (p.Asp124=) | |
| 8 | g.22163978C>G | CA370538380 | SFTPC | c.513C>G (p.Asp171Glu) c.531C>G (p.Asp177Glu) c.*158C>G (n.*158C>G) c.277-288C>G (n.277-288C>G) c.*414C>G (n.*414C>G) c.354C>G (p.Asp118Glu) c.372C>G (p.Asp124Glu) | |
| 8 | g.22163978C>T | CA460170667 | SFTPC | c.513C>T (p.Asp171=) c.531C>T (p.Asp177=) c.*158C>T (n.*158C>T) c.277-288C>T (n.277-288C>T) c.*414C>T (n.*414C>T) c.354C>T (p.Asp118=) c.372C>T (p.Asp124=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22163979C>A | CA370538381 | SFTPC | c.514C>A (p.Pro172Thr) c.532C>A (p.Pro178Thr) c.*159C>A (n.*159C>A) c.277-287C>A (n.277-287C>A) c.*415C>A (n.*415C>A) c.355C>A (p.Pro119Thr) c.373C>A (p.Pro125Thr) | |
| 8 | g.22163979C>G | CA370538382 | SFTPC | c.514C>G (p.Pro172Ala) c.532C>G (p.Pro178Ala) c.*159C>G (n.*159C>G) c.277-287C>G (n.277-287C>G) c.*415C>G (n.*415C>G) c.355C>G (p.Pro119Ala) c.373C>G (p.Pro125Ala) | |
| 8 | g.22163979C>T | CA370538383 | SFTPC | c.514C>T (p.Pro172Ser) c.532C>T (p.Pro178Ser) c.*159C>T (n.*159C>T) c.277-287C>T (n.277-287C>T) c.*415C>T (n.*415C>T) c.355C>T (p.Pro119Ser) c.373C>T (p.Pro125Ser) | |
| 8 | g.22163980C>A | CA370538384 | SFTPC | c.515C>A (p.Pro172Gln) c.533C>A (p.Pro178Gln) c.*160C>A (n.*160C>A) c.277-286C>A (n.277-286C>A) c.*416C>A (n.*416C>A) c.356C>A (p.Pro119Gln) c.374C>A (p.Pro125Gln) | |
| 8 | g.22163980C= | CA1770260442 | SFTPC | c.515C= (p.Pro172=) c.533C= (p.Pro178=) c.*160C= (n.*160C=) c.277-286C= (n.277-286C=) c.*416C= (n.*416C=) c.356C= (p.Pro119=) c.374C= (p.Pro125=) | |
| 8 | g.22163980C>G | CA370538385 | SFTPC | c.515C>G (p.Pro172Arg) c.533C>G (p.Pro178Arg) c.*160C>G (n.*160C>G) c.277-286C>G (n.277-286C>G) c.*416C>G (n.*416C>G) c.356C>G (p.Pro119Arg) c.374C>G (p.Pro125Arg) | gnomAD v4 |
| 8 | g.22163980C>T | CA4664072 | SFTPC | c.515C>T (p.Pro172Leu) c.533C>T (p.Pro178Leu) c.*160C>T (n.*160C>T) c.277-286C>T (n.277-286C>T) c.*416C>T (n.*416C>T) c.356C>T (p.Pro119Leu) c.374C>T (p.Pro125Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163981G>A | CA4664073 | SFTPC | c.516G>A (p.Pro172=) c.534G>A (p.Pro178=) c.*161G>A (n.*161G>A) c.277-285G>A (n.277-285G>A) c.*417G>A (n.*417G>A) c.357G>A (p.Pro119=) c.375G>A (p.Pro125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163981G>C | CA460170678 | SFTPC | c.516G>C (p.Pro172=) c.534G>C (p.Pro178=) c.*161G>C (n.*161G>C) c.277-285G>C (n.277-285G>C) c.*417G>C (n.*417G>C) c.357G>C (p.Pro119=) c.375G>C (p.Pro125=) | |
| 8 | g.22163981G= | CA1770260446 | SFTPC | c.516G= (p.Pro172=) c.534G= (p.Pro178=) c.*161G= (n.*161G=) c.277-285G= (n.277-285G=) c.*417G= (n.*417G=) c.357G= (p.Pro119=) c.375G= (p.Pro125=) | |
| 8 | g.22163981G>T | CA460170675 | SFTPC | c.516G>T (p.Pro172=) c.534G>T (p.Pro178=) c.*161G>T (n.*161G>T) c.277-285G>T (n.277-285G>T) c.*417G>T (n.*417G>T) c.357G>T (p.Pro119=) c.375G>T (p.Pro125=) | |
| 8 | g.22163982G>A | CA370538386 | SFTPC | c.517G>A (p.Ala173Thr) c.535G>A (p.Ala179Thr) c.*162G>A (n.*162G>A) c.277-284G>A (n.277-284G>A) c.*418G>A (n.*418G>A) c.358G>A (p.Ala120Thr) c.376G>A (p.Ala126Thr) | dbSNP gnomAD v2 |
| 8 | g.22163982G>C | CA4664074 | SFTPC | c.517G>C (p.Ala173Pro) c.535G>C (p.Ala179Pro) c.*162G>C (n.*162G>C) c.277-284G>C (n.277-284G>C) c.*418G>C (n.*418G>C) c.358G>C (p.Ala120Pro) c.376G>C (p.Ala126Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163982G= | CA1770260450 | SFTPC | c.517G= (p.Ala173=) c.535G= (p.Ala179=) c.*162G= (n.*162G=) c.277-284G= (n.277-284G=) c.*418G= (n.*418G=) c.358G= (p.Ala120=) c.376G= (p.Ala126=) | |
| 8 | g.22163982G>T | CA370538387 | SFTPC | c.517G>T (p.Ala173Ser) c.535G>T (p.Ala179Ser) c.*162G>T (n.*162G>T) c.277-284G>T (n.277-284G>T) c.*418G>T (n.*418G>T) c.358G>T (p.Ala120Ser) c.376G>T (p.Ala126Ser) | |
| 8 | g.22163983C>A | CA370538388 | SFTPC | c.518C>A (p.Ala173Asp) c.536C>A (p.Ala179Asp) c.*163C>A (n.*163C>A) c.277-283C>A (n.277-283C>A) c.*419C>A (n.*419C>A) c.359C>A (p.Ala120Asp) c.377C>A (p.Ala126Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163983C= | CA1770260455 | SFTPC | c.518C= (p.Ala173=) c.536C= (p.Ala179=) c.*163C= (n.*163C=) c.277-283C= (n.277-283C=) c.*419C= (n.*419C=) c.359C= (p.Ala120=) c.377C= (p.Ala126=) | |
| 8 | g.22163983C>G | CA370538389 | SFTPC | c.518C>G (p.Ala173Gly) c.536C>G (p.Ala179Gly) c.*163C>G (n.*163C>G) c.277-283C>G (n.277-283C>G) c.*419C>G (n.*419C>G) c.359C>G (p.Ala120Gly) c.377C>G (p.Ala126Gly) | |
| 8 | g.22163983C>T | CA173484029 | SFTPC | c.518C>T (p.Ala173Val) c.536C>T (p.Ala179Val) c.*163C>T (n.*163C>T) c.277-283C>T (n.277-283C>T) c.*419C>T (n.*419C>T) c.359C>T (p.Ala120Val) c.377C>T (p.Ala126Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22163984C>A | CA460170684 | SFTPC | c.519C>A (p.Ala173=) c.537C>A (p.Ala179=) c.*164C>A (n.*164C>A) c.277-282C>A (n.277-282C>A) c.*420C>A (n.*420C>A) c.360C>A (p.Ala120=) c.378C>A (p.Ala126=) | |
| 8 | g.22163984C>G | CA460170685 | SFTPC | c.519C>G (p.Ala173=) c.537C>G (p.Ala179=) c.*164C>G (n.*164C>G) c.277-282C>G (n.277-282C>G) c.*420C>G (n.*420C>G) c.360C>G (p.Ala120=) c.378C>G (p.Ala126=) | |
| 8 | g.22163984C>T | CA460170687 | SFTPC | c.519C>T (p.Ala173=) c.537C>T (p.Ala179=) c.*164C>T (n.*164C>T) c.277-282C>T (n.277-282C>T) c.*420C>T (n.*420C>T) c.360C>T (p.Ala120=) c.378C>T (p.Ala126=) | |
| 8 | g.22163985T>A | CA370538390 | SFTPC | c.520T>A (p.Phe174Ile) c.538T>A (p.Phe180Ile) c.*165T>A (n.*165T>A) c.277-281T>A (n.277-281T>A) c.*421T>A (n.*421T>A) c.361T>A (p.Phe121Ile) c.379T>A (p.Phe127Ile) | |
| 8 | g.22163985T>C | CA370538391 | SFTPC | c.520T>C (p.Phe174Leu) c.538T>C (p.Phe180Leu) c.*165T>C (n.*165T>C) c.277-281T>C (n.277-281T>C) c.*421T>C (n.*421T>C) c.361T>C (p.Phe121Leu) c.379T>C (p.Phe127Leu) | |
| 8 | g.22163985T>G | CA370538392 | SFTPC | c.520T>G (p.Phe174Val) c.538T>G (p.Phe180Val) c.*165T>G (n.*165T>G) c.277-281T>G (n.277-281T>G) c.*421T>G (n.*421T>G) c.361T>G (p.Phe121Val) c.379T>G (p.Phe127Val) | |
| 8 | g.22163986T>A | CA370538393 | SFTPC | c.521T>A (p.Phe174Tyr) c.539T>A (p.Phe180Tyr) c.*166T>A (n.*166T>A) c.277-280T>A (n.277-280T>A) c.*422T>A (n.*422T>A) c.362T>A (p.Phe121Tyr) c.380T>A (p.Phe127Tyr) | |
| 8 | g.22163986T>C | CA370538394 | SFTPC | c.521T>C (p.Phe174Ser) c.539T>C (p.Phe180Ser) c.*166T>C (n.*166T>C) c.277-280T>C (n.277-280T>C) c.*422T>C (n.*422T>C) c.362T>C (p.Phe121Ser) c.380T>C (p.Phe127Ser) | dbSNP |
| 8 | g.22163986T>G | CA370538395 | SFTPC | c.521T>G (p.Phe174Cys) c.539T>G (p.Phe180Cys) c.*166T>G (n.*166T>G) c.277-280T>G (n.277-280T>G) c.*422T>G (n.*422T>G) c.362T>G (p.Phe121Cys) c.380T>G (p.Phe127Cys) | |
| 8 | g.22163987C>A | CA370538396 | SFTPC | c.522C>A (p.Phe174Leu) c.540C>A (p.Phe180Leu) c.*167C>A (n.*167C>A) c.277-279C>A (n.277-279C>A) c.*423C>A (n.*423C>A) c.363C>A (p.Phe121Leu) c.381C>A (p.Phe127Leu) | |
| 8 | g.22163987C>G | CA370538397 | SFTPC | c.522C>G (p.Phe174Leu) c.540C>G (p.Phe180Leu) c.*167C>G (n.*167C>G) c.277-279C>G (n.277-279C>G) c.*423C>G (n.*423C>G) c.363C>G (p.Phe121Leu) c.381C>G (p.Phe127Leu) | |
| 8 | g.22163987C>T | CA460170698 | SFTPC | c.522C>T (p.Phe174=) c.540C>T (p.Phe180=) c.*167C>T (n.*167C>T) c.277-279C>T (n.277-279C>T) c.*423C>T (n.*423C>T) c.363C>T (p.Phe121=) c.381C>T (p.Phe127=) | |
| 8 | g.22163988del | CA2695203647 | SFTPC | c.523del (p.Leu175TrpfsTer5) c.541del (p.Leu181TrpfsTer5) c.*168del (n.*168del) c.277-278del (n.277-278del) c.*424del (n.*424del) c.364del (p.Leu122TrpfsTer?) c.382del (p.Leu128TrpfsTer5) | |
| 8 | g.22163988C>A | CA370538398 | SFTPC | c.523C>A (p.Leu175Met) c.541C>A (p.Leu181Met) c.*168C>A (n.*168C>A) c.277-278C>A (n.277-278C>A) c.*424C>A (n.*424C>A) c.364C>A (p.Leu122Met) c.382C>A (p.Leu128Met) | |
| 8 | g.22163988C= | CA1770260461 | SFTPC | c.523C= (p.Leu175=) c.541C= (p.Leu181=) c.*168C= (n.*168C=) c.277-278C= (n.277-278C=) c.*424C= (n.*424C=) c.364C= (p.Leu122=) c.382C= (p.Leu128=) | |
| 8 | g.22163988C>G | CA4664075 | SFTPC | c.523C>G (p.Leu175Val) c.541C>G (p.Leu181Val) c.*168C>G (n.*168C>G) c.277-278C>G (n.277-278C>G) c.*424C>G (n.*424C>G) c.364C>G (p.Leu122Val) c.382C>G (p.Leu128Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163988C>T | CA460170701 | SFTPC | c.523C>T (p.Leu175=) c.541C>T (p.Leu181=) c.*168C>T (n.*168C>T) c.277-278C>T (n.277-278C>T) c.*424C>T (n.*424C>T) c.364C>T (p.Leu122=) c.382C>T (p.Leu128=) | dbSNP gnomAD v4 |
| 8 | g.22163989_22163993dup | CA2739279125 | SFTPC | c.524_528dup (p.Met177TrpfsTer5) c.542_546dup (p.Met183TrpfsTer5) c.*169_*173dup (n.*169_*173dup) c.277-277_277-273dup (n.277-277_277-273dup) c.*425_*429dup (n.*425_*429dup) c.365_369dup (p.Met124TrpfsTer?) c.383_387dup (p.Met130TrpfsTer5) | ClinVar |
| 8 | g.22163989T>A | CA370538399 | SFTPC | c.524T>A (p.Leu175Gln) c.542T>A (p.Leu181Gln) c.*169T>A (n.*169T>A) c.277-277T>A (n.277-277T>A) c.*425T>A (n.*425T>A) c.365T>A (p.Leu122Gln) c.383T>A (p.Leu128Gln) | |
| 8 | g.22163989T>C | CA370538401 | SFTPC | c.524T>C (p.Leu175Pro) c.542T>C (p.Leu181Pro) c.*169T>C (n.*169T>C) c.277-277T>C (n.277-277T>C) c.*425T>C (n.*425T>C) c.365T>C (p.Leu122Pro) c.383T>C (p.Leu128Pro) | |
| 8 | g.22163989T>G | CA370538400 | SFTPC | c.524T>G (p.Leu175Arg) c.542T>G (p.Leu181Arg) c.*169T>G (n.*169T>G) c.277-277T>G (n.277-277T>G) c.*425T>G (n.*425T>G) c.365T>G (p.Leu122Arg) c.383T>G (p.Leu128Arg) | |
| 8 | g.22163990G>A | CA460170709 | SFTPC | c.525G>A (p.Leu175=) c.543G>A (p.Leu181=) c.*170G>A (n.*170G>A) c.277-276G>A (n.277-276G>A) c.*426G>A (n.*426G>A) c.366G>A (p.Leu122=) c.384G>A (p.Leu128=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22163990G>C | CA460170706 | SFTPC | c.525G>C (p.Leu175=) c.543G>C (p.Leu181=) c.*170G>C (n.*170G>C) c.277-276G>C (n.277-276G>C) c.*426G>C (n.*426G>C) c.366G>C (p.Leu122=) c.384G>C (p.Leu128=) | dbSNP |
| 8 | g.22163990G= | CA1770260468 | SFTPC | c.525G= (p.Leu175=) c.543G= (p.Leu181=) c.*170G= (n.*170G=) c.277-276G= (n.277-276G=) c.*426G= (n.*426G=) c.366G= (p.Leu122=) c.384G= (p.Leu128=) | |
| 8 | g.22163990G>T | CA460170708 | SFTPC | c.525G>T (p.Leu175=) c.543G>T (p.Leu181=) c.*170G>T (n.*170G>T) c.277-276G>T (n.277-276G>T) c.*426G>T (n.*426G>T) c.366G>T (p.Leu122=) c.384G>T (p.Leu128=) | |
| 8 | g.22163992del | CA2695203648 | SFTPC | c.527del (p.Gly176AlafsTer4) c.545del (p.Gly182AlafsTer4) c.*172del (n.*172del) c.277-274del (n.277-274del) c.*428del (n.*428del) c.368del (p.Gly123AlafsTer?) c.386del (p.Gly129AlafsTer4) | |
| 8 | g.22163991G>A | CA370538402 | SFTPC | c.526G>A (p.Gly176Ser) c.544G>A (p.Gly182Ser) c.*171G>A (n.*171G>A) c.277-275G>A (n.277-275G>A) c.*427G>A (n.*427G>A) c.367G>A (p.Gly123Ser) c.385G>A (p.Gly129Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22163991G>C | CA370538403 | SFTPC | c.526G>C (p.Gly176Arg) c.544G>C (p.Gly182Arg) c.*171G>C (n.*171G>C) c.277-275G>C (n.277-275G>C) c.*427G>C (n.*427G>C) c.367G>C (p.Gly123Arg) c.385G>C (p.Gly129Arg) | |
| 8 | g.22163991G= | CA1770260473 | SFTPC | c.526G= (p.Gly176=) c.544G= (p.Gly182=) c.*171G= (n.*171G=) c.277-275G= (n.277-275G=) c.*427G= (n.*427G=) c.367G= (p.Gly123=) c.385G= (p.Gly129=) | |
| 8 | g.22163991G>T | CA370538404 | SFTPC | c.526G>T (p.Gly176Cys) c.544G>T (p.Gly182Cys) c.*171G>T (n.*171G>T) c.277-275G>T (n.277-275G>T) c.*427G>T (n.*427G>T) c.367G>T (p.Gly123Cys) c.385G>T (p.Gly129Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22163992G>A | CA370538405 | SFTPC | c.527G>A (p.Gly176Asp) c.545G>A (p.Gly182Asp) c.*172G>A (n.*172G>A) c.277-274G>A (n.277-274G>A) c.*428G>A (n.*428G>A) c.368G>A (p.Gly123Asp) c.386G>A (p.Gly129Asp) | ClinVar gnomAD v4 |
| 8 | g.22163992G>C | CA370538406 | SFTPC | c.527G>C (p.Gly176Ala) c.545G>C (p.Gly182Ala) c.*172G>C (n.*172G>C) c.277-274G>C (n.277-274G>C) c.*428G>C (n.*428G>C) c.368G>C (p.Gly123Ala) c.386G>C (p.Gly129Ala) | |
| 8 | g.22163992G>T | CA370538407 | SFTPC | c.527G>T (p.Gly176Val) c.545G>T (p.Gly182Val) c.*172G>T (n.*172G>T) c.277-274G>T (n.277-274G>T) c.*428G>T (n.*428G>T) c.368G>T (p.Gly123Val) c.386G>T (p.Gly129Val) | |
| 8 | g.22163992_22164009dup | CA2695203649 | SFTPC | c.527_544dup (p.Thr181_Leu182insArgMetAlaValSerThr) c.545_562dup (p.Thr187_Leu188insArgMetAlaValSerThr) c.*172_*189dup (n.*172_*189dup) c.277-274_277-257dup (n.277-274_277-257dup) c.386_403dup (p.Thr134_Leu135insArgMetAlaValSerThr) | |
| 8 | g.22163993C>A | CA460170713 | SFTPC | c.528C>A (p.Gly176=) c.546C>A (p.Gly182=) c.*173C>A (n.*173C>A) c.277-273C>A (n.277-273C>A) c.*429C>A (n.*429C>A) c.369C>A (p.Gly123=) c.387C>A (p.Gly129=) | |
| 8 | g.22163993C= | CA1770260476 | SFTPC | c.528C= (p.Gly176=) c.546C= (p.Gly182=) c.*173C= (n.*173C=) c.277-273C= (n.277-273C=) c.*429C= (n.*429C=) c.369C= (p.Gly123=) c.387C= (p.Gly129=) | |
| 8 | g.22163993C>G | CA460170716 | SFTPC | c.528C>G (p.Gly176=) c.546C>G (p.Gly182=) c.*173C>G (n.*173C>G) c.277-273C>G (n.277-273C>G) c.*429C>G (n.*429C>G) c.369C>G (p.Gly123=) c.387C>G (p.Gly129=) | |
| 8 | g.22163993C>T | CA460170718 | SFTPC | c.528C>T (p.Gly176=) c.546C>T (p.Gly182=) c.*173C>T (n.*173C>T) c.277-273C>T (n.277-273C>T) c.*429C>T (n.*429C>T) c.369C>T (p.Gly123=) c.387C>T (p.Gly129=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.22163994A= | CA1770260482 | SFTPC | c.529A= (p.Met177=) c.547A= (p.Met183=) c.*174A= (n.*174A=) c.277-272A= (n.277-272A=) c.*430A= (n.*430A=) c.370A= (p.Met124=) c.388A= (p.Met130=) | |
| 8 | g.22163994A>C | CA370538408 | SFTPC | c.529A>C (p.Met177Leu) c.547A>C (p.Met183Leu) c.*174A>C (n.*174A>C) c.277-272A>C (n.277-272A>C) c.*430A>C (n.*430A>C) c.370A>C (p.Met124Leu) c.388A>C (p.Met130Leu) | |
| 8 | g.22163994A>G | CA4664076 | SFTPC | c.529A>G (p.Met177Val) c.547A>G (p.Met183Val) c.*174A>G (n.*174A>G) c.277-272A>G (n.277-272A>G) c.*430A>G (n.*430A>G) c.370A>G (p.Met124Val) c.388A>G (p.Met130Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163994A>T | CA370538409 | SFTPC | c.529A>T (p.Met177Leu) c.547A>T (p.Met183Leu) c.*174A>T (n.*174A>T) c.277-272A>T (n.277-272A>T) c.*430A>T (n.*430A>T) c.370A>T (p.Met124Leu) c.388A>T (p.Met130Leu) | |
| 8 | g.22163995T>A | CA370538410 | SFTPC | c.530T>A (p.Met177Lys) c.548T>A (p.Met183Lys) c.*175T>A (n.*175T>A) c.277-271T>A (n.277-271T>A) c.*431T>A (n.*431T>A) c.371T>A (p.Met124Lys) c.389T>A (p.Met130Lys) | |
| 8 | g.22163995T>C | CA370538411 | SFTPC | c.530T>C (p.Met177Thr) c.548T>C (p.Met183Thr) c.*175T>C (n.*175T>C) c.277-271T>C (n.277-271T>C) c.*431T>C (n.*431T>C) c.371T>C (p.Met124Thr) c.389T>C (p.Met130Thr) | |
| 8 | g.22163995T>G | CA4664077 | SFTPC | c.530T>G (p.Met177Arg) c.548T>G (p.Met183Arg) c.*175T>G (n.*175T>G) c.277-271T>G (n.277-271T>G) c.*431T>G (n.*431T>G) c.371T>G (p.Met124Arg) c.389T>G (p.Met130Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.22163995T= | CA1770260487 | SFTPC | c.530T= (p.Met177=) c.548T= (p.Met183=) c.*175T= (n.*175T=) c.277-271T= (n.277-271T=) c.*431T= (n.*431T=) c.371T= (p.Met124=) c.389T= (p.Met130=) | |
| 8 | g.22163996G>A | CA370538412 | SFTPC | c.531G>A (p.Met177Ile) c.549G>A (p.Met183Ile) c.*176G>A (n.*176G>A) c.277-270G>A (n.277-270G>A) c.*432G>A (n.*432G>A) c.372G>A (p.Met124Ile) c.390G>A (p.Met130Ile) | |
| 8 | g.22163996G>C | CA370538414 | SFTPC | c.531G>C (p.Met177Ile) c.549G>C (p.Met183Ile) c.*176G>C (n.*176G>C) c.277-270G>C (n.277-270G>C) c.*432G>C (n.*432G>C) c.372G>C (p.Met124Ile) c.390G>C (p.Met130Ile) | |
| 8 | g.22163996G>T | CA370538413 | SFTPC | c.531G>T (p.Met177Ile) c.549G>T (p.Met183Ile) c.*176G>T (n.*176G>T) c.277-270G>T (n.277-270G>T) c.*432G>T (n.*432G>T) c.372G>T (p.Met124Ile) c.390G>T (p.Met130Ile) | |
| 8 | g.22163997G>A | CA4664078 | SFTPC | c.532G>A (p.Ala178Thr) c.550G>A (p.Ala184Thr) c.*177G>A (n.*177G>A) c.277-269G>A (n.277-269G>A) c.*433G>A (n.*433G>A) c.373G>A c.391G>A (p.Ala131Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.22163997G>C | CA370538415 | SFTPC | c.532G>C (p.Ala178Pro) c.550G>C (p.Ala184Pro) c.*177G>C (n.*177G>C) c.277-269G>C (n.277-269G>C) c.*433G>C (n.*433G>C) c.373G>C c.391G>C (p.Ala131Pro) | |
| 8 | g.22163997G= | CA1770260490 | SFTPC | c.532G= (p.Ala178=) c.550G= (p.Ala184=) c.*177G= (n.*177G=) c.277-269G= (n.277-269G=) c.*433G= (n.*433G=) c.373G= c.391G= (p.Ala131=) | |
| 8 | g.22163997G>T | CA370538416 | SFTPC | c.532G>T (p.Ala178Ser) c.550G>T (p.Ala184Ser) c.*177G>T (n.*177G>T) c.277-269G>T (n.277-269G>T) c.*433G>T (n.*433G>T) c.373G>T c.391G>T (p.Ala131Ser) | |
| 8 | g.22163998C>A | CA370538417 | SFTPC | c.533C>A (p.Ala178Asp) c.551C>A (p.Ala184Asp) c.*178C>A (n.*178C>A) c.277-268C>A (n.277-268C>A) c.*434C>A (n.*434C>A) c.374C>A c.392C>A (p.Ala131Asp) | |
| 8 | g.22163998C= | CA1770260493 | SFTPC | c.533C= (p.Ala178=) c.551C= (p.Ala184=) c.*178C= (n.*178C=) c.277-268C= (n.277-268C=) c.*434C= (n.*434C=) c.374C= c.392C= (p.Ala131=) | |
| 8 | g.22163998C>G | CA370538418 | SFTPC | c.533C>G (p.Ala178Gly) c.551C>G (p.Ala184Gly) c.*178C>G (n.*178C>G) c.277-268C>G (n.277-268C>G) c.*434C>G (n.*434C>G) c.374C>G c.392C>G (p.Ala131Gly) | |
| 8 | g.22163998C>T | CA370538419 | SFTPC | c.533C>T (p.Ala178Val) c.551C>T (p.Ala184Val) c.*178C>T (n.*178C>T) c.277-268C>T (n.277-268C>T) c.*434C>T (n.*434C>T) c.374C>T c.392C>T (p.Ala131Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22163999C>A | CA460170731 | SFTPC | c.534C>A (p.Ala178=) c.552C>A (p.Ala184=) c.*179C>A (n.*179C>A) c.277-267C>A (n.277-267C>A) c.*435C>A (n.*435C>A) c.393C>A (p.Ala131=) | |
| 8 | g.22163999C= | CA1770260498 | SFTPC | c.534C= (p.Ala178=) c.552C= (p.Ala184=) c.*179C= (n.*179C=) c.277-267C= (n.277-267C=) c.*435C= (n.*435C=) c.393C= (p.Ala131=) | |
| 8 | g.22163999C>G | CA173484059 | SFTPC | c.534C>G (p.Ala178=) c.552C>G (p.Ala184=) c.*179C>G (n.*179C>G) c.277-267C>G (n.277-267C>G) c.*435C>G (n.*435C>G) c.393C>G (p.Ala131=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163999C>T | CA4664079 | SFTPC | c.534C>T (p.Ala178=) c.552C>T (p.Ala184=) c.*179C>T (n.*179C>T) c.277-267C>T (n.277-267C>T) c.*435C>T (n.*435C>T) c.393C>T (p.Ala131=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.22164000del | CA2579111060 | SFTPC | c.535del (p.Val179Ter) c.553del (p.Val185Ter) c.*180del (n.*180del) c.277-266del (n.277-266del) c.*436del (n.*436del) c.394del (p.Val132Ter) | |
| 8 | g.22164000G>A | CA370538420 | SFTPC | c.535G>A (p.Val179Met) c.553G>A (p.Val185Met) c.*180G>A (n.*180G>A) c.277-266G>A (n.277-266G>A) c.*436G>A (n.*436G>A) c.394G>A (p.Val132Met) | gnomAD v4 |
| 8 | g.22164000G>C | CA370538421 | SFTPC | c.535G>C (p.Val179Leu) c.553G>C (p.Val185Leu) c.*180G>C (n.*180G>C) c.277-266G>C (n.277-266G>C) c.*436G>C (n.*436G>C) c.394G>C (p.Val132Leu) | gnomAD v4 |
| 8 | g.22164000G= | CA1770260502 | SFTPC | c.535G= (p.Val179=) c.553G= (p.Val185=) c.*180G= (n.*180G=) c.277-266G= (n.277-266G=) c.*436G= (n.*436G=) c.394G= (p.Val132=) | |
| 8 | g.22164000G>T | CA370538422 | SFTPC | c.535G>T (p.Val179Leu) c.553G>T (p.Val185Leu) c.*180G>T (n.*180G>T) c.277-266G>T (n.277-266G>T) c.*436G>T (n.*436G>T) c.394G>T (p.Val132Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22164001T>A | CA370538424 | SFTPC | c.536T>A (p.Val179Glu) c.554T>A (p.Val185Glu) c.*181T>A (n.*181T>A) c.277-265T>A (n.277-265T>A) c.*437T>A (n.*437T>A) c.395T>A (p.Val132Glu) | |
| 8 | g.22164001T>C | CA370538425 | SFTPC | c.536T>C (p.Val179Ala) c.554T>C (p.Val185Ala) c.*181T>C (n.*181T>C) c.277-265T>C (n.277-265T>C) c.*437T>C (n.*437T>C) c.395T>C (p.Val132Ala) | |
| 8 | g.22164001T>G | CA370538423 | SFTPC | c.536T>G (p.Val179Gly) c.554T>G (p.Val185Gly) c.*181T>G (n.*181T>G) c.277-265T>G (n.277-265T>G) c.*437T>G (n.*437T>G) c.395T>G (p.Val132Gly) | COSMIC |
| 8 | g.22164002G>A | CA460170738 | SFTPC | c.537G>A (p.Val179=) c.555G>A (p.Val185=) c.*182G>A (n.*182G>A) c.277-264G>A (n.277-264G>A) c.*438G>A (n.*438G>A) c.396G>A (p.Val132=) | dbSNP |
| 8 | g.22164002G>C | CA460170739 | SFTPC | c.537G>C (p.Val179=) c.555G>C (p.Val185=) c.*182G>C (n.*182G>C) c.277-264G>C (n.277-264G>C) c.*438G>C (n.*438G>C) c.396G>C (p.Val132=) | |
| 8 | g.22164002G= | CA1770260506 | SFTPC | c.537G= (p.Val179=) c.555G= (p.Val185=) c.*182G= (n.*182G=) c.277-264G= (n.277-264G=) c.*438G= (n.*438G=) c.396G= (p.Val132=) | |
| 8 | g.22164002G>T | CA460170740 | SFTPC | c.537G>T (p.Val179=) c.555G>T (p.Val185=) c.*182G>T (n.*182G>T) c.277-264G>T (n.277-264G>T) c.*438G>T (n.*438G>T) c.396G>T (p.Val132=) | gnomAD v4 |
| 8 | g.22164003A= | CA1770260509 | SFTPC | c.538A= (p.Ser180=) c.556A= (p.Ser186=) c.*183A= (n.*183A=) c.277-263A= (n.277-263A=) c.*439A= (n.*439A=) c.397A= (p.Ser133=) | |
| 8 | g.22164003A>C | CA370538426 | SFTPC | c.538A>C (p.Ser180Arg) c.556A>C (p.Ser186Arg) c.*183A>C (n.*183A>C) c.277-263A>C (n.277-263A>C) c.*439A>C (n.*439A>C) c.397A>C (p.Ser133Arg) | |
| 8 | g.22164003A>G | CA370538427 | SFTPC | c.538A>G (p.Ser180Gly) c.556A>G (p.Ser186Gly) c.*183A>G (n.*183A>G) c.277-263A>G (n.277-263A>G) c.*439A>G (n.*439A>G) c.397A>G (p.Ser133Gly) | |
| 8 | g.22164003A>T | CA370538428 | SFTPC | c.538A>T (p.Ser180Cys) c.556A>T (p.Ser186Cys) c.*183A>T (n.*183A>T) c.277-263A>T (n.277-263A>T) c.*439A>T (n.*439A>T) c.397A>T (p.Ser133Cys) | dbSNP |
| 8 | g.22164004G>A | CA177960 | SFTPC | c.539G>A (p.Ser180Asn) c.557G>A (p.Ser186Asn) c.*184G>A (n.*184G>A) c.277-262G>A (n.277-262G>A) c.*440G>A (n.*440G>A) c.398G>A (p.Ser133Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22164004G>C | CA370538429 | SFTPC | c.539G>C (p.Ser180Thr) c.557G>C (p.Ser186Thr) c.*184G>C (n.*184G>C) c.277-262G>C (n.277-262G>C) c.*440G>C (n.*440G>C) c.398G>C (p.Ser133Thr) | |
| 8 | g.22164004G= | CA1630835123 | SFTPC | c.539G= (p.Ser180=) c.557G= (p.Ser186=) c.*184G= (n.*184G=) c.277-262G= (n.277-262G=) c.*440G= (n.*440G=) c.398G= (p.Ser133=) | |
| 8 | g.22164004G>T | CA370538430 | SFTPC | c.539G>T (p.Ser180Ile) c.557G>T (p.Ser186Ile) c.*184G>T (n.*184G>T) c.277-262G>T (n.277-262G>T) c.*440G>T (n.*440G>T) c.398G>T (p.Ser133Ile) | |
| 8 | g.22164005C>A | CA370538431 | SFTPC | c.540C>A (p.Ser180Arg) c.558C>A (p.Ser186Arg) c.*185C>A (n.*185C>A) c.277-261C>A (n.277-261C>A) c.*441C>A (n.*441C>A) c.399C>A (p.Ser133Arg) | |
| 8 | g.22164005C>G | CA370538432 | SFTPC | c.540C>G (p.Ser180Arg) c.558C>G (p.Ser186Arg) c.*185C>G (n.*185C>G) c.277-261C>G (n.277-261C>G) c.*441C>G (n.*441C>G) c.399C>G (p.Ser133Arg) | |
| 8 | g.22164005C>T | CA460170749 | SFTPC | c.540C>T (p.Ser180=) c.558C>T (p.Ser186=) c.*185C>T (n.*185C>T) c.277-261C>T (n.277-261C>T) c.*441C>T (n.*441C>T) c.399C>T (p.Ser133=) | |
| 8 | g.22164006A>C | CA370538433 | SFTPC | c.541A>C (p.Thr181Pro) c.559A>C (p.Thr187Pro) c.*186A>C (n.*186A>C) c.277-260A>C (n.277-260A>C) c.*442A>C (n.*442A>C) c.400A>C (p.Thr134Pro) | |
| 8 | g.22164006A>G | CA370538434 | SFTPC | c.541A>G (p.Thr181Ala) c.559A>G (p.Thr187Ala) c.*186A>G (n.*186A>G) c.277-260A>G (n.277-260A>G) c.*442A>G (n.*442A>G) c.400A>G (p.Thr134Ala) | |
| 8 | g.22164006A>T | CA370538435 | SFTPC | c.541A>T (p.Thr181Ser) c.559A>T (p.Thr187Ser) c.*186A>T (n.*186A>T) c.277-260A>T (n.277-260A>T) c.*442A>T (n.*442A>T) c.400A>T (p.Thr134Ser) | |
| 8 | g.22164007C>A | CA370538436 | SFTPC | c.542C>A (p.Thr181Asn) c.560C>A (p.Thr187Asn) c.*187C>A (n.*187C>A) c.277-259C>A (n.277-259C>A) c.*443C>A (n.*443C>A) c.401C>A (p.Thr134Asn) | ClinVar |
| 8 | g.22164007C>G | CA370538437 | SFTPC | c.542C>G (p.Thr181Ser) c.560C>G (p.Thr187Ser) c.*187C>G (n.*187C>G) c.277-259C>G (n.277-259C>G) c.*443C>G (n.*443C>G) c.401C>G (p.Thr134Ser) | |
| 8 | g.22164007C>T | CA370538438 | SFTPC | c.542C>T (p.Thr181Ile) c.560C>T (p.Thr187Ile) c.*187C>T (n.*187C>T) c.277-259C>T (n.277-259C>T) c.*443C>T (n.*443C>T) c.401C>T (p.Thr134Ile) | gnomAD v4 |
| 8 | g.22164008C>A | CA460170754 | SFTPC | c.543C>A (p.Thr181=) c.561C>A (p.Thr187=) c.*188C>A (n.*188C>A) c.277-258C>A (n.277-258C>A) c.*444C>A (n.*444C>A) c.402C>A (p.Thr134=) | |
| 8 | g.22164008C= | CA1770260519 | SFTPC | c.543C= (p.Thr181=) c.561C= (p.Thr187=) c.*188C= (n.*188C=) c.277-258C= (n.277-258C=) c.*444C= (n.*444C=) c.402C= (p.Thr134=) | |
| 8 | g.22164008C>G | CA460170756 | SFTPC | c.543C>G (p.Thr181=) c.561C>G (p.Thr187=) c.*188C>G (n.*188C>G) c.277-258C>G (n.277-258C>G) c.*444C>G (n.*444C>G) c.402C>G (p.Thr134=) | |
| 8 | g.22164008C>T | CA460170760 | SFTPC | c.543C>T (p.Thr181=) c.561C>T (p.Thr187=) c.*188C>T (n.*188C>T) c.277-258C>T (n.277-258C>T) c.*444C>T (n.*444C>T) c.402C>T (p.Thr134=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22164009C>A | CA370538439 | SFTPC | c.544C>A (p.Leu182Met) c.562C>A (p.Leu188Met) c.*189C>A (n.*189C>A) c.277-257C>A (n.277-257C>A) c.403C>A (p.Leu135Met) | |
| 8 | g.22164009C>G | CA370538440 | SFTPC | c.544C>G (p.Leu182Val) c.562C>G (p.Leu188Val) c.*189C>G (n.*189C>G) c.277-257C>G (n.277-257C>G) c.403C>G (p.Leu135Val) | |
| 8 | g.22164009C>T | CA460170762 | SFTPC | c.544C>T (p.Leu182=) c.562C>T (p.Leu188=) c.*189C>T (n.*189C>T) c.277-257C>T (n.277-257C>T) c.403C>T (p.Leu135=) | |
| 8 | g.22164010T>A | CA210540 | SFTPC | c.545T>A (p.Leu182Gln) c.563T>A (p.Leu188Gln) c.*190T>A (n.*190T>A) c.277-256T>A (n.277-256T>A) c.404T>A (p.Leu135Gln) | ClinVar dbSNP |
| 8 | g.22164010T>C | CA370538441 | SFTPC | c.545T>C (p.Leu182Pro) c.563T>C (p.Leu188Pro) c.*190T>C (n.*190T>C) c.277-256T>C (n.277-256T>C) c.404T>C (p.Leu135Pro) | |
| 8 | g.22164010T>G | CA370538442 | SFTPC | c.545T>G (p.Leu182Arg) c.563T>G (p.Leu188Arg) c.*190T>G (n.*190T>G) c.277-256T>G (n.277-256T>G) c.404T>G (p.Leu135Arg) | |
| 8 | g.22164010T= | CA1770260526 | SFTPC | c.545T= (p.Leu182=) c.563T= (p.Leu188=) c.*190T= (n.*190T=) c.277-256T= (n.277-256T=) c.404T= (p.Leu135=) | |
| 8 | g.22164014_22164015del | CA2695203650 | SFTPC | c.549_550del (p.Cys183TrpfsTer14) c.567_568del (p.Cys189TrpfsTer14) c.*194_*195del (n.*194_*195del) c.277-252_277-251del (n.277-252_277-251del) c.408_409del (p.Cys136TrpfsTer?) c.567_568del (p.Cys189TrpfsTer?) c.549_550del (p.Cys183TrpfsTer?) c.408_409del (p.Cys136TrpfsTer14) |