| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27453428G>A | CA149735 | IFT172 | c.3907C>T (p.Arg1303Ter) c.*3420C>T (n.*3420C>T) c.*2355C>T (n.*2355C>T) c.*4353C>T (n.*4353C>T) c.*1778C>T (n.*1778C>T) c.3841C>T (p.Arg1281Ter) c.*3197C>T (n.*3197C>T) c.512C>T c.239C>T (p.Ala80Val) n.225C>T n.4188C>T c.302C>T c.3844C>T (p.Arg1282Ter) c.3226C>T (p.Arg1076Ter) c.2347C>T (p.Arg783Ter) c.1972C>T (p.Arg658Ter) c.3778C>T (p.Arg1260Ter) c.3797C>T (p.Ala1266Val) c.2044C>T (p.Arg682Ter) c.1840C>T (p.Arg614Ter) n.3852C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.27453428G>T | CA425609056 | IFT172 | c.3907C>A (p.Arg1303=) c.*3420C>A (n.*3420C>A) c.*2355C>A (n.*2355C>A) c.*4353C>A (n.*4353C>A) c.*1778C>A (n.*1778C>A) c.3841C>A (p.Arg1281=) c.*3197C>A (n.*3197C>A) c.512C>A c.239C>A (p.Ala80Glu) n.225C>A n.4188C>A c.302C>A c.3844C>A (p.Arg1282=) c.3226C>A (p.Arg1076=) c.2347C>A (p.Arg783=) c.1972C>A (p.Arg658=) c.3778C>A (p.Arg1260=) c.3797C>A (p.Ala1266Glu) c.2044C>A (p.Arg682=) c.1840C>A (p.Arg614=) n.3852C>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27453428G= | CA1240286537 | IFT172 | c.3907C= (p.Arg1303=) c.*3420C= (n.*3420C=) c.*2355C= (n.*2355C=) c.*4353C= (n.*4353C=) c.*1778C= (n.*1778C=) c.3841C= (p.Arg1281=) c.*3197C= (n.*3197C=) c.512C= c.239C= (p.Ala80=) n.225C= n.4188C= c.302C= c.3844C= (p.Arg1282=) c.3226C= (p.Arg1076=) c.2347C= (p.Arg783=) c.1972C= (p.Arg658=) c.3778C= (p.Arg1260=) c.3797C= (p.Ala1266=) c.2044C= (p.Arg682=) c.1840C= (p.Arg614=) n.3852C= | dbSNP |
| 2 | g.27453428G>C | CA346377670 | IFT172 | c.3907C>G (p.Arg1303Gly) c.*3420C>G (n.*3420C>G) c.*2355C>G (n.*2355C>G) c.*4353C>G (n.*4353C>G) c.*1778C>G (n.*1778C>G) c.3841C>G (p.Arg1281Gly) c.*3197C>G (n.*3197C>G) c.512C>G c.239C>G (p.Ala80Gly) n.225C>G n.4188C>G c.302C>G c.3844C>G (p.Arg1282Gly) c.3226C>G (p.Arg1076Gly) c.2347C>G (p.Arg783Gly) c.1972C>G (p.Arg658Gly) c.3778C>G (p.Arg1260Gly) c.3797C>G (p.Ala1266Gly) c.2044C>G (p.Arg682Gly) c.1840C>G (p.Arg614Gly) n.3852C>G | dbSNP gnomAD v4 |