Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.38144282G>ACA460374910STARc.849C>T (p.Ala283=)
n.2818C>T
c.691C>T
c.755C>T (p.Pro252Leu)
8g.38144282G>CCA460374912STARc.849C>G (p.Ala283=)
n.2818C>G
c.691C>G
c.755C>G (p.Pro252Arg)
8g.38144282G=CA1777409232STARc.849C= (p.Ala283=)
n.2818C=
c.691C=
c.755C= (p.Pro252=)
8g.38144282G>TCA460374911STARc.849C>A (p.Ala283=)
n.2818C>A
c.691C>A
c.755C>A (p.Pro252Gln)
dbSNP gnomAD v2 gnomAD v4
8g.38144283G>ACA4715114STARc.848C>T (p.Ala283Val)
n.2817C>T
c.690C>T
c.754C>T (p.Pro252Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144283G>CCA370695507STARc.848C>G (p.Ala283Gly)
n.2817C>G
c.690C>G
c.754C>G (p.Pro252Ala)
8g.38144283G=CA1777409235STARc.848C= (p.Ala283=)
n.2817C=
c.690C=
c.754C= (p.Pro252=)
8g.38144283G>TCA370695509STARc.848C>A (p.Ala283Asp)
n.2817C>A
c.690C>A
c.754C>A (p.Pro252Thr)
gnomAD v4
8g.38144284C>ACA370695512STARc.847G>T (p.Ala283Ser)
n.2816G>T
c.689G>T
c.753G>T (p.Lys251Asn)
8g.38144284C=CA1777409237STARc.847G= (p.Ala283=)
n.2816G=
c.689G=
c.753G= (p.Lys251=)
8g.38144284C>GCA370695513STARc.847G>C (p.Ala283Pro)
n.2816G>C
c.689G>C
c.753G>C (p.Lys251Asn)
8g.38144284C>TCA370695515STARc.847G>A (p.Ala283Thr)
n.2816G>A
c.689G>A
c.753G>A (p.Lys251=)
dbSNP gnomAD v2
8g.38144285T>ACA370695517STARc.846A>T (p.Glu282Asp)
n.2815A>T
c.688A>T
c.752A>T (p.Lys251Met)
8g.38144285T>CCA460374913STARc.846A>G (p.Glu282=)
n.2815A>G
c.688A>G
c.752A>G (p.Lys251Arg)
8g.38144285T>GCA370695519STARc.846A>C (p.Glu282Asp)
n.2815A>C
c.688A>C
c.752A>C (p.Lys251Thr)
8g.38144286T>ACA370695520STARc.845A>T (p.Glu282Val)
n.2814A>T
c.687A>T
c.751A>T (p.Lys251Ter)
8g.38144286T>CCA370695522STARc.845A>G (p.Glu282Gly)
n.2814A>G
c.687A>G
c.751A>G (p.Lys251Glu)
8g.38144286T>GCA370695524STARc.845A>C (p.Glu282Ala)
n.2814A>C
c.687A>C
c.751A>C (p.Lys251Gln)
8g.38144287C>ACA370695527STARc.844G>T (p.Glu282Ter)
n.2813G>T
c.686G>T
c.750G>T (p.Leu250=)
8g.38144287C=CA1777409239STARc.844G= (p.Glu282=)
n.2813G=
c.686G=
c.750G= (p.Leu250=)
8g.38144287C>GCA370695529STARc.844G>C (p.Glu282Gln)
n.2813G>C
c.686G>C
c.750G>C (p.Leu250=)
8g.38144287C>TCA370695525STARc.844G>A (p.Glu282Lys)
n.2813G>A
c.686G>A
c.750G>A (p.Leu250=)
gnomAD v4
8g.38144287_38144288insGCA1777409241STARc.843_844insC (p.Glu282ArgfsTer?)
n.2812_2813insC
c.685_686insC
c.749_750insC (p.Lys251GlufsTer5)
dbSNP
8g.38144288A=CA1777409242STARc.843T= (p.Ser281=)
n.2812T=
c.685T=
c.749T= (p.Leu250=)
8g.38144288A>CCA460374914STARc.843T>G (p.Ser281=)
n.2812T>G
c.685T>G
c.749T>G (p.Leu250Arg)
8g.38144288A>GCA4715115STARc.843T>C (p.Ser281=)
n.2812T>C
c.685T>C
c.749T>C (p.Leu250Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144288A>TCA460374915STARc.843T>A (p.Ser281=)
n.2812T>A
c.685T>A
c.749T>A (p.Leu250Gln)
gnomAD v4
8g.38144289G>ACA4715116STARc.842C>T (p.Ser281Phe)
n.2811C>T
c.684C>T
c.748C>T (p.Leu250=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144289G>CCA370695530STARc.842C>G (p.Ser281Cys)
n.2811C>G
c.684C>G
c.748C>G (p.Leu250Val)
8g.38144289G=CA1777409245STARc.842C= (p.Ser281=)
n.2811C=
c.684C=
c.748C= (p.Leu250=)
8g.38144289G>TCA370695532STARc.842C>A (p.Ser281Tyr)
n.2811C>A
c.684C>A
c.748C>A (p.Leu250Met)
8g.38144290A=CA1777409247STARc.841T= (p.Ser281=)
n.2810T=
c.683T=
c.747T= (p.Pro249=)
8g.38144290A>CCA370695534STARc.841T>G (p.Ser281Ala)
n.2810T>G
c.683T>G
c.747T>G (p.Pro249=)
8g.38144290A>GCA370695540STARc.841T>C (p.Ser281Pro)
n.2810T>C
c.683T>C
c.747T>C (p.Pro249=)
dbSNP gnomAD v2 gnomAD v4
8g.38144290A>TCA4715117STARc.841T>A (p.Ser281Thr)
n.2810T>A
c.683T>A
c.747T>A (p.Pro249=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144291G>ACA460374916STARc.840C>T (p.Ala280=)
n.2809C>T
c.682C>T
c.746C>T (p.Pro249Leu)
8g.38144291G>CCA460374917STARc.840C>G (p.Ala280=)
n.2809C>G
c.682C>G
c.746C>G (p.Pro249Arg)
8g.38144291G>TCA460374918STARc.840C>A (p.Ala280=)
n.2809C>A
c.682C>A
c.746C>A (p.Pro249His)
gnomAD v4
8g.38144292G>ACA370695546STARc.839C>T (p.Ala280Val)
n.2808C>T
c.681C>T
c.745C>T (p.Pro249Ser)
8g.38144292G>CCA370695550STARc.839C>G (p.Ala280Gly)
n.2808C>G
c.681C>G
c.745C>G (p.Pro249Ala)
8g.38144292G>TCA370695552STARc.839C>A (p.Ala280Asp)
n.2808C>A
c.681C>A
c.745C>A (p.Pro249Thr)
8g.38144293C>ACA370695556STARc.838G>T (p.Ala280Ser)
n.2807G>T
c.680G>T
c.744G>T (p.Leu248=)
dbSNP
8g.38144293C=CA1777409250STARc.838G= (p.Ala280=)
n.2807G=
c.680G=
c.744G= (p.Leu248=)
8g.38144293C>GCA370695558STARc.838G>C (p.Ala280Pro)
n.2807G>C
c.680G>C
c.744G>C (p.Leu248=)
8g.38144293C>TCA370695563STARc.838G>A (p.Ala280Thr)
n.2807G>A
c.680G>A
c.744G>A (p.Leu248=)
gnomAD v4
8g.38144294A>CCA460374919STARc.837T>G (p.Pro279=)
n.2806T>G
c.679T>G
c.743T>G (p.Leu248Arg)
8g.38144294A>GCA460374920STARc.837T>C (p.Pro279=)
n.2806T>C
c.679T>C
c.743T>C (p.Leu248Pro)
ClinVar
8g.38144294A>TCA460374921STARc.837T>A (p.Pro279=)
n.2806T>A
c.679T>A
c.743T>A (p.Leu248Gln)
8g.38144295G>ACA370695569STARc.836C>T (p.Pro279Leu)
n.2805C>T
c.678C>T
c.742C>T (p.Leu248=)
gnomAD v4
8g.38144295G>CCA4715118STARc.836C>G (p.Pro279Arg)
n.2805C>G
c.678C>G
c.742C>G (p.Leu248Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched