Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37185382G>A | CA411432301 | C1QTNF6 | c.125C>T (p.Pro42Leu) n.3615C>T n.567C>T c.68C>T (p.Pro23Leu) | |
22 | g.37185382G>C | CA10217013 | C1QTNF6 | c.125C>G (p.Pro42Arg) n.3615C>G n.567C>G c.68C>G (p.Pro23Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37185382G= | CA2404224289 | C1QTNF6 | c.125C= (p.Pro42=) n.3615C= n.567C= c.68C= (p.Pro23=) | |
22 | g.37185382G>T | CA10217014 | C1QTNF6 | c.125C>A (p.Pro42His) n.3615C>A n.567C>A c.68C>A (p.Pro23His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37185383G>A | CA411432302 | C1QTNF6 | c.124C>T (p.Pro42Ser) n.3614C>T n.566C>T c.67C>T (p.Pro23Ser) | gnomAD v4 |
22 | g.37185383G>C | CA10217015 | C1QTNF6 | c.124C>G (p.Pro42Ala) n.3614C>G n.566C>G c.67C>G (p.Pro23Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37185383G= | CA2404224290 | C1QTNF6 | c.124C= (p.Pro42=) n.3614C= n.566C= c.67C= (p.Pro23=) | |
22 | g.37185383G>T | CA10217016 | C1QTNF6 | c.124C>A (p.Pro42Thr) n.3614C>A n.566C>A c.67C>A (p.Pro23Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37185384G>A | CA514767838 | C1QTNF6 | c.123C>T (p.Ile41=) n.3613C>T n.565C>T c.66C>T (p.Ile22=) | COSMIC |
22 | g.37185384G>C | CA411432303 | C1QTNF6 | c.123C>G (p.Ile41Met) n.3613C>G n.565C>G c.66C>G (p.Ile22Met) | |
22 | g.37185384G>T | CA514767839 | C1QTNF6 | c.123C>A (p.Ile41=) n.3613C>A n.565C>A c.66C>A (p.Ile22=) | |
22 | g.37185385A>C | CA411432304 | C1QTNF6 | c.122T>G (p.Ile41Ser) n.3612T>G n.564T>G c.65T>G (p.Ile22Ser) | gnomAD v4 |
22 | g.37185385A>G | CA411432305 | C1QTNF6 | c.122T>C (p.Ile41Thr) n.3612T>C n.564T>C c.65T>C (p.Ile22Thr) | |
22 | g.37185385A>T | CA411432306 | C1QTNF6 | c.122T>A (p.Ile41Asn) n.3612T>A n.564T>A c.65T>A (p.Ile22Asn) | |
22 | g.37185386del | CA2656502112 | C1QTNF6 | c.121del (p.Ile41SerfsTer?) n.3611del n.563del c.64del (p.Ile22SerfsTer?) | gnomAD v4 |
22 | g.37185386T>A | CA411432307 | C1QTNF6 | c.121A>T (p.Ile41Phe) n.3611A>T n.563A>T c.64A>T (p.Ile22Phe) | |
22 | g.37185386T>C | CA411432308 | C1QTNF6 | c.121A>G (p.Ile41Val) n.3611A>G n.563A>G c.64A>G (p.Ile22Val) | |
22 | g.37185386T>G | CA411432309 | C1QTNF6 | c.121A>C (p.Ile41Leu) n.3611A>C n.563A>C c.64A>C (p.Ile22Leu) | |
22 | g.37185387C>A | CA411432310 | C1QTNF6 | c.120G>T (p.Glu40Asp) n.3610G>T n.562G>T c.63G>T (p.Glu21Asp) | |
22 | g.37185387C>G | CA411432311 | C1QTNF6 | c.120G>C (p.Glu40Asp) n.3610G>C n.562G>C c.63G>C (p.Glu21Asp) | |
22 | g.37185387C>T | CA514767843 | C1QTNF6 | c.120G>A (p.Glu40=) n.3610G>A n.562G>A c.63G>A (p.Glu21=) | |
22 | g.37185388T>A | CA411432312 | C1QTNF6 | c.119A>T (p.Glu40Val) n.3609A>T n.561A>T c.62A>T (p.Glu21Val) | |
22 | g.37185388T>C | CA411432313 | C1QTNF6 | c.119A>G (p.Glu40Gly) n.3609A>G n.561A>G c.62A>G (p.Glu21Gly) | |
22 | g.37185388T>G | CA411432314 | C1QTNF6 | c.119A>C (p.Glu40Ala) n.3609A>C n.561A>C c.62A>C (p.Glu21Ala) | gnomAD v4 |
22 | g.37185389C>A | CA411432315 | C1QTNF6 | c.118G>T (p.Glu40Ter) n.3608G>T n.560G>T c.61G>T (p.Glu21Ter) | |
22 | g.37185389C>G | CA411432316 | C1QTNF6 | c.118G>C (p.Glu40Gln) n.3608G>C n.560G>C c.61G>C (p.Glu21Gln) | |
22 | g.37185389C>T | CA411432317 | C1QTNF6 | c.118G>A (p.Glu40Lys) n.3608G>A n.560G>A c.61G>A (p.Glu21Lys) | |
22 | g.37185389dup | CA2656502113 | C1QTNF6 | c.118dup (p.Glu40GlyfsTer10) n.3608dup n.560dup c.61dup (p.Glu21GlyfsTer10) | gnomAD v4 |
22 | g.37185390A>C | CA411432318 | C1QTNF6 | c.117T>G (p.Cys39Trp) n.3607T>G n.559T>G c.60T>G (p.Cys20Trp) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37185390A>G | CA514767846 | C1QTNF6 | c.117T>C (p.Cys39=) n.3607T>C n.559T>C c.60T>C (p.Cys20=) | |
22 | g.37185390A>T | CA411432319 | C1QTNF6 | c.117T>A (p.Cys39Ter) n.3607T>A n.559T>A c.60T>A (p.Cys20Ter) | |
22 | g.37185391C>A | CA411432320 | C1QTNF6 | c.116G>T (p.Cys39Phe) n.3606G>T n.558G>T c.59G>T (p.Cys20Phe) | |
22 | g.37185391C= | CA2404224291 | C1QTNF6 | c.116G= (p.Cys39=) n.3606G= n.558G= c.59G= (p.Cys20=) | |
22 | g.37185391C>G | CA411432321 | C1QTNF6 | c.116G>C (p.Cys39Ser) n.3606G>C n.558G>C c.59G>C (p.Cys20Ser) | |
22 | g.37185391C>T | CA411432322 | C1QTNF6 | c.116G>A (p.Cys39Tyr) n.3606G>A n.558G>A c.59G>A (p.Cys20Tyr) | dbSNP |
22 | g.37185392A= | CA2404224292 | C1QTNF6 | c.115T= (p.Cys39=) n.3605T= n.557T= c.58T= (p.Cys20=) | |
22 | g.37185392A>C | CA411432323 | C1QTNF6 | c.115T>G (p.Cys39Gly) n.3605T>G n.557T>G c.58T>G (p.Cys20Gly) | |
22 | g.37185392A>G | CA324042724 | C1QTNF6 | c.115T>C (p.Cys39Arg) n.3605T>C n.557T>C c.58T>C (p.Cys20Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37185392A>T | CA411432324 | C1QTNF6 | c.115T>A (p.Cys39Ser) n.3605T>A n.557T>A c.58T>A (p.Cys20Ser) | |
22 | g.37185393C>A | CA10217017 | C1QTNF6 | c.114G>T (p.Met38Ile) n.3604G>T n.556G>T c.57G>T (p.Met19Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37185393C= | CA2404224293 | C1QTNF6 | c.114G= (p.Met38=) n.3604G= n.556G= c.57G= (p.Met19=) | |
22 | g.37185393C>G | CA411432325 | C1QTNF6 | c.114G>C (p.Met38Ile) n.3604G>C n.556G>C c.57G>C (p.Met19Ile) | |
22 | g.37185393C>T | CA411432326 | C1QTNF6 | c.114G>A (p.Met38Ile) n.3604G>A n.556G>A c.57G>A (p.Met19Ile) | gnomAD v4 |
22 | g.37185394A= | CA2404224294 | C1QTNF6 | c.113T= (p.Met38=) n.3603T= n.555T= c.56T= (p.Met19=) | |
22 | g.37185394A>C | CA411432327 | C1QTNF6 | c.113T>G (p.Met38Arg) n.3603T>G n.555T>G c.56T>G (p.Met19Arg) | |
22 | g.37185394A>G | CA411432328 | C1QTNF6 | c.113T>C (p.Met38Thr) n.3603T>C n.555T>C c.56T>C (p.Met19Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37185394A>T | CA411432329 | C1QTNF6 | c.113T>A (p.Met38Lys) n.3603T>A n.555T>A c.56T>A (p.Met19Lys) | |
22 | g.37185395T>A | CA411432332 | C1QTNF6 | c.112A>T (p.Met38Leu) n.3602A>T n.554A>T c.55A>T (p.Met19Leu) | |
22 | g.37185395T>C | CA411432331 | C1QTNF6 | c.112A>G (p.Met38Val) n.3602A>G n.554A>G c.55A>G (p.Met19Val) | |
22 | g.37185395T>G | CA411432330 | C1QTNF6 | c.112A>C (p.Met38Leu) n.3602A>C n.554A>C c.55A>C (p.Met19Leu) |