Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.79557363A= | CA1922240827 | SFTPA2 | c.593T= (p.Phe198=) c.644T= (p.Phe215=) c.623T= (p.Phe208=) | |
10 | g.79557363A>C | CA377352914 | SFTPA2 | c.593T>G (p.Phe198Cys) c.644T>G (p.Phe215Cys) c.623T>G (p.Phe208Cys) | |
10 | g.79557363A>G | CA256738 | SFTPA2 | c.593T>C (p.Phe198Ser) c.644T>C (p.Phe215Ser) c.623T>C (p.Phe208Ser) | ClinVar dbSNP |
10 | g.79557363A>T | CA377352915 | SFTPA2 | c.593T>A (p.Phe198Tyr) c.644T>A (p.Phe215Tyr) c.623T>A (p.Phe208Tyr) | |
10 | g.79557364A>C | CA377352916 | SFTPA2 | c.592T>G (p.Phe198Val) c.643T>G (p.Phe215Val) c.622T>G (p.Phe208Val) | |
10 | g.79557364A>G | CA377352918 | SFTPA2 | c.592T>C (p.Phe198Leu) c.643T>C (p.Phe215Leu) c.622T>C (p.Phe208Leu) | |
10 | g.79557364A>T | CA377352917 | SFTPA2 | c.592T>A (p.Phe198Ile) c.643T>A (p.Phe215Ile) c.622T>A (p.Phe208Ile) | |
10 | g.79557365G>A | CA470414529 | SFTPA2 | c.591C>T (p.Asp197=) c.642C>T (p.Asp214=) c.621C>T (p.Asp207=) | gnomAD v4 |
10 | g.79557365G>C | CA377352919 | SFTPA2 | c.591C>G (p.Asp197Glu) c.642C>G (p.Asp214Glu) c.621C>G (p.Asp207Glu) | |
10 | g.79557365G>T | CA377352920 | SFTPA2 | c.591C>A (p.Asp197Glu) c.642C>A (p.Asp214Glu) c.621C>A (p.Asp207Glu) | |
10 | g.79557366T>A | CA377352921 | SFTPA2 | c.590A>T (p.Asp197Val) c.641A>T (p.Asp214Val) c.620A>T (p.Asp207Val) | |
10 | g.79557366T>C | CA5574005 | SFTPA2 | c.590A>G (p.Asp197Gly) c.641A>G (p.Asp214Gly) c.620A>G (p.Asp207Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557366T>G | CA377352922 | SFTPA2 | c.590A>C (p.Asp197Ala) c.641A>C (p.Asp214Ala) c.620A>C (p.Asp207Ala) | |
10 | g.79557366T= | CA1922240832 | SFTPA2 | c.590A= (p.Asp197=) c.641A= (p.Asp214=) c.620A= (p.Asp207=) | |
10 | g.79557367C>A | CA377352923 | SFTPA2 | c.589G>T (p.Asp197Tyr) c.640G>T (p.Asp214Tyr) c.619G>T (p.Asp207Tyr) | dbSNP gnomAD v4 |
10 | g.79557367C= | CA1922240834 | SFTPA2 | c.589G= (p.Asp197=) c.640G= (p.Asp214=) c.619G= (p.Asp207=) | |
10 | g.79557367C>G | CA377352924 | SFTPA2 | c.589G>C (p.Asp197His) c.640G>C (p.Asp214His) c.619G>C (p.Asp207His) | |
10 | g.79557367C>T | CA377352925 | SFTPA2 | c.589G>A (p.Asp197Asn) c.640G>A (p.Asp214Asn) c.619G>A (p.Asp207Asn) | |
10 | g.79557368T>A | CA470414530 | SFTPA2 | c.588A>T (p.Gly196=) c.639A>T (p.Gly213=) c.618A>T (p.Gly206=) | |
10 | g.79557368T>C | CA5574006 | SFTPA2 | c.588A>G (p.Gly196=) c.639A>G (p.Gly213=) c.618A>G (p.Gly206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557368T>G | CA470414531 | SFTPA2 | c.588A>C (p.Gly196=) c.639A>C (p.Gly213=) c.618A>C (p.Gly206=) | |
10 | g.79557368T= | CA1922240838 | SFTPA2 | c.588A= (p.Gly196=) c.639A= (p.Gly213=) c.618A= (p.Gly206=) | |
10 | g.79557369C>A | CA5574007 | SFTPA2 | c.587G>T (p.Gly196Val) c.638G>T (p.Gly213Val) c.617G>T (p.Gly206Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557369C= | CA1922240842 | SFTPA2 | c.587G= (p.Gly196=) c.638G= (p.Gly213=) c.617G= (p.Gly206=) | |
10 | g.79557369C>G | CA377352926 | SFTPA2 | c.587G>C (p.Gly196Ala) c.638G>C (p.Gly213Ala) c.617G>C (p.Gly206Ala) | |
10 | g.79557369C>T | CA377352927 | SFTPA2 | c.587G>A (p.Gly196Glu) c.638G>A (p.Gly213Glu) c.617G>A (p.Gly206Glu) | |
10 | g.79557370C>A | CA377352929 | SFTPA2 | c.586G>T (p.Gly196Ter) c.637G>T (p.Gly213Ter) c.616G>T (p.Gly206Ter) | |
10 | g.79557370C>G | CA377352930 | SFTPA2 | c.586G>C (p.Gly196Arg) c.637G>C (p.Gly213Arg) c.616G>C (p.Gly206Arg) | |
10 | g.79557370C>T | CA377352928 | SFTPA2 | c.586G>A (p.Gly196Arg) c.637G>A (p.Gly213Arg) c.616G>A (p.Gly206Arg) | |
10 | g.79557371A>C | CA470414532 | SFTPA2 | c.585T>G (p.Pro195=) c.636T>G (p.Pro212=) c.615T>G (p.Pro205=) | gnomAD v4 |
10 | g.79557371A>G | CA470414533 | SFTPA2 | c.585T>C (p.Pro195=) c.636T>C (p.Pro212=) c.615T>C (p.Pro205=) | |
10 | g.79557371A>T | CA470414534 | SFTPA2 | c.585T>A (p.Pro195=) c.636T>A (p.Pro212=) c.615T>A (p.Pro205=) | |
10 | g.79557372G>A | CA377352932 | SFTPA2 | c.584C>T (p.Pro195Leu) c.635C>T (p.Pro212Leu) c.614C>T (p.Pro205Leu) | |
10 | g.79557372G>C | CA377352931 | SFTPA2 | c.584C>G (p.Pro195Arg) c.635C>G (p.Pro212Arg) c.614C>G (p.Pro205Arg) | |
10 | g.79557372G>T | CA377352933 | SFTPA2 | c.584C>A (p.Pro195His) c.635C>A (p.Pro212His) c.614C>A (p.Pro205His) | dbSNP |
10 | g.79557373G>A | CA210248228 | SFTPA2 | c.583C>T (p.Pro195Ser) c.634C>T (p.Pro212Ser) c.613C>T (p.Pro205Ser) | dbSNP gnomAD v4 COSMIC |
10 | g.79557373G>C | CA377352934 | SFTPA2 | c.583C>G (p.Pro195Ala) c.634C>G (p.Pro212Ala) c.613C>G (p.Pro205Ala) | |
10 | g.79557373G= | CA1922240846 | SFTPA2 | c.583C= (p.Pro195=) c.634C= (p.Pro212=) c.613C= (p.Pro205=) | |
10 | g.79557373G>T | CA377352935 | SFTPA2 | c.583C>A (p.Pro195Thr) c.634C>A (p.Pro212Thr) c.613C>A (p.Pro205Thr) | |
10 | g.79557374G>A | CA470414535 | SFTPA2 | c.582C>T (p.Ser194=) c.633C>T (p.Ser211=) c.612C>T (p.Ser204=) | |
10 | g.79557374G>C | CA377352936 | SFTPA2 | c.582C>G (p.Ser194Arg) c.633C>G (p.Ser211Arg) c.612C>G (p.Ser204Arg) | |
10 | g.79557374G>T | CA377352937 | SFTPA2 | c.582C>A (p.Ser194Arg) c.633C>A (p.Ser211Arg) c.612C>A (p.Ser204Arg) | |
10 | g.79557375C>A | CA377352940 | SFTPA2 | c.581G>T (p.Ser194Ile) c.632G>T (p.Ser211Ile) c.611G>T (p.Ser204Ile) | |
10 | g.79557375C>G | CA377352939 | SFTPA2 | c.581G>C (p.Ser194Thr) c.632G>C (p.Ser211Thr) c.611G>C (p.Ser204Thr) | |
10 | g.79557375C>T | CA377352938 | SFTPA2 | c.581G>A (p.Ser194Asn) c.632G>A (p.Ser211Asn) c.611G>A (p.Ser204Asn) | |
10 | g.79557376T>A | CA377352941 | SFTPA2 | c.580A>T (p.Ser194Cys) c.631A>T (p.Ser211Cys) c.610A>T (p.Ser204Cys) | |
10 | g.79557376T>C | CA377352942 | SFTPA2 | c.580A>G (p.Ser194Gly) c.631A>G (p.Ser211Gly) c.610A>G (p.Ser204Gly) | |
10 | g.79557376T>G | CA377352943 | SFTPA2 | c.580A>C (p.Ser194Arg) c.631A>C (p.Ser211Arg) c.610A>C (p.Ser204Arg) | |
10 | g.79557377G>A | CA470414536 | SFTPA2 | c.579C>T (p.Pro193=) c.630C>T (p.Pro210=) c.609C>T (p.Pro203=) | |
10 | g.79557377G>C | CA470414537 | SFTPA2 | c.579C>G (p.Pro193=) c.630C>G (p.Pro210=) c.609C>G (p.Pro203=) |