Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.38144282G>A | CA460374910 | STAR | c.849C>T (p.Ala283=) n.2818C>T c.691C>T c.755C>T (p.Pro252Leu) | |
8 | g.38144282G>C | CA460374912 | STAR | c.849C>G (p.Ala283=) n.2818C>G c.691C>G c.755C>G (p.Pro252Arg) | |
8 | g.38144282G= | CA1777409232 | STAR | c.849C= (p.Ala283=) n.2818C= c.691C= c.755C= (p.Pro252=) | |
8 | g.38144282G>T | CA460374911 | STAR | c.849C>A (p.Ala283=) n.2818C>A c.691C>A c.755C>A (p.Pro252Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144283G>A | CA4715114 | STAR | c.848C>T (p.Ala283Val) n.2817C>T c.690C>T c.754C>T (p.Pro252Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144283G>C | CA370695507 | STAR | c.848C>G (p.Ala283Gly) n.2817C>G c.690C>G c.754C>G (p.Pro252Ala) | |
8 | g.38144283G= | CA1777409235 | STAR | c.848C= (p.Ala283=) n.2817C= c.690C= c.754C= (p.Pro252=) | |
8 | g.38144283G>T | CA370695509 | STAR | c.848C>A (p.Ala283Asp) n.2817C>A c.690C>A c.754C>A (p.Pro252Thr) | gnomAD v4 |
8 | g.38144284C>A | CA370695512 | STAR | c.847G>T (p.Ala283Ser) n.2816G>T c.689G>T c.753G>T (p.Lys251Asn) | |
8 | g.38144284C= | CA1777409237 | STAR | c.847G= (p.Ala283=) n.2816G= c.689G= c.753G= (p.Lys251=) | |
8 | g.38144284C>G | CA370695513 | STAR | c.847G>C (p.Ala283Pro) n.2816G>C c.689G>C c.753G>C (p.Lys251Asn) | |
8 | g.38144284C>T | CA370695515 | STAR | c.847G>A (p.Ala283Thr) n.2816G>A c.689G>A c.753G>A (p.Lys251=) | dbSNP gnomAD v2 |
8 | g.38144285T>A | CA370695517 | STAR | c.846A>T (p.Glu282Asp) n.2815A>T c.688A>T c.752A>T (p.Lys251Met) | |
8 | g.38144285T>C | CA460374913 | STAR | c.846A>G (p.Glu282=) n.2815A>G c.688A>G c.752A>G (p.Lys251Arg) | |
8 | g.38144285T>G | CA370695519 | STAR | c.846A>C (p.Glu282Asp) n.2815A>C c.688A>C c.752A>C (p.Lys251Thr) | |
8 | g.38144286T>A | CA370695520 | STAR | c.845A>T (p.Glu282Val) n.2814A>T c.687A>T c.751A>T (p.Lys251Ter) | |
8 | g.38144286T>C | CA370695522 | STAR | c.845A>G (p.Glu282Gly) n.2814A>G c.687A>G c.751A>G (p.Lys251Glu) | |
8 | g.38144286T>G | CA370695524 | STAR | c.845A>C (p.Glu282Ala) n.2814A>C c.687A>C c.751A>C (p.Lys251Gln) | |
8 | g.38144287C>A | CA370695527 | STAR | c.844G>T (p.Glu282Ter) n.2813G>T c.686G>T c.750G>T (p.Leu250=) | |
8 | g.38144287C= | CA1777409239 | STAR | c.844G= (p.Glu282=) n.2813G= c.686G= c.750G= (p.Leu250=) | |
8 | g.38144287C>G | CA370695529 | STAR | c.844G>C (p.Glu282Gln) n.2813G>C c.686G>C c.750G>C (p.Leu250=) | |
8 | g.38144287C>T | CA370695525 | STAR | c.844G>A (p.Glu282Lys) n.2813G>A c.686G>A c.750G>A (p.Leu250=) | gnomAD v4 |
8 | g.38144287_38144288insG | CA1777409241 | STAR | c.843_844insC (p.Glu282ArgfsTer?) n.2812_2813insC c.685_686insC c.749_750insC (p.Lys251GlufsTer5) | dbSNP |
8 | g.38144288A= | CA1777409242 | STAR | c.843T= (p.Ser281=) n.2812T= c.685T= c.749T= (p.Leu250=) | |
8 | g.38144288A>C | CA460374914 | STAR | c.843T>G (p.Ser281=) n.2812T>G c.685T>G c.749T>G (p.Leu250Arg) | |
8 | g.38144288A>G | CA4715115 | STAR | c.843T>C (p.Ser281=) n.2812T>C c.685T>C c.749T>C (p.Leu250Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144288A>T | CA460374915 | STAR | c.843T>A (p.Ser281=) n.2812T>A c.685T>A c.749T>A (p.Leu250Gln) | gnomAD v4 |
8 | g.38144289G>A | CA4715116 | STAR | c.842C>T (p.Ser281Phe) n.2811C>T c.684C>T c.748C>T (p.Leu250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144289G>C | CA370695530 | STAR | c.842C>G (p.Ser281Cys) n.2811C>G c.684C>G c.748C>G (p.Leu250Val) | |
8 | g.38144289G= | CA1777409245 | STAR | c.842C= (p.Ser281=) n.2811C= c.684C= c.748C= (p.Leu250=) | |
8 | g.38144289G>T | CA370695532 | STAR | c.842C>A (p.Ser281Tyr) n.2811C>A c.684C>A c.748C>A (p.Leu250Met) | |
8 | g.38144290A= | CA1777409247 | STAR | c.841T= (p.Ser281=) n.2810T= c.683T= c.747T= (p.Pro249=) | |
8 | g.38144290A>C | CA370695534 | STAR | c.841T>G (p.Ser281Ala) n.2810T>G c.683T>G c.747T>G (p.Pro249=) | |
8 | g.38144290A>G | CA370695540 | STAR | c.841T>C (p.Ser281Pro) n.2810T>C c.683T>C c.747T>C (p.Pro249=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144290A>T | CA4715117 | STAR | c.841T>A (p.Ser281Thr) n.2810T>A c.683T>A c.747T>A (p.Pro249=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144291G>A | CA460374916 | STAR | c.840C>T (p.Ala280=) n.2809C>T c.682C>T c.746C>T (p.Pro249Leu) | |
8 | g.38144291G>C | CA460374917 | STAR | c.840C>G (p.Ala280=) n.2809C>G c.682C>G c.746C>G (p.Pro249Arg) | |
8 | g.38144291G>T | CA460374918 | STAR | c.840C>A (p.Ala280=) n.2809C>A c.682C>A c.746C>A (p.Pro249His) | gnomAD v4 |
8 | g.38144292G>A | CA370695546 | STAR | c.839C>T (p.Ala280Val) n.2808C>T c.681C>T c.745C>T (p.Pro249Ser) | |
8 | g.38144292G>C | CA370695550 | STAR | c.839C>G (p.Ala280Gly) n.2808C>G c.681C>G c.745C>G (p.Pro249Ala) | |
8 | g.38144292G>T | CA370695552 | STAR | c.839C>A (p.Ala280Asp) n.2808C>A c.681C>A c.745C>A (p.Pro249Thr) | |
8 | g.38144293C>A | CA370695556 | STAR | c.838G>T (p.Ala280Ser) n.2807G>T c.680G>T c.744G>T (p.Leu248=) | dbSNP |
8 | g.38144293C= | CA1777409250 | STAR | c.838G= (p.Ala280=) n.2807G= c.680G= c.744G= (p.Leu248=) | |
8 | g.38144293C>G | CA370695558 | STAR | c.838G>C (p.Ala280Pro) n.2807G>C c.680G>C c.744G>C (p.Leu248=) | |
8 | g.38144293C>T | CA370695563 | STAR | c.838G>A (p.Ala280Thr) n.2807G>A c.680G>A c.744G>A (p.Leu248=) | gnomAD v4 |
8 | g.38144294A>C | CA460374919 | STAR | c.837T>G (p.Pro279=) n.2806T>G c.679T>G c.743T>G (p.Leu248Arg) | |
8 | g.38144294A>G | CA460374920 | STAR | c.837T>C (p.Pro279=) n.2806T>C c.679T>C c.743T>C (p.Leu248Pro) | ClinVar |
8 | g.38144294A>T | CA460374921 | STAR | c.837T>A (p.Pro279=) n.2806T>A c.679T>A c.743T>A (p.Leu248Gln) | |
8 | g.38144295G>A | CA370695569 | STAR | c.836C>T (p.Pro279Leu) n.2805C>T c.678C>T c.742C>T (p.Leu248=) | gnomAD v4 |
8 | g.38144295G>C | CA4715118 | STAR | c.836C>G (p.Pro279Arg) n.2805C>G c.678C>G c.742C>G (p.Leu248Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |