Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155904394G>ACA342802380RIT1c.*75C>T (n.*75C>T)
c.238C>T (p.Gln80Ter)
c.*17C>T (n.*17C>T)
c.346C>T (p.Gln116Ter)
c.349C>T (p.Gln117Ter)
c.397C>T (p.Gln133Ter)
 gnomAD v4
1g.155904394G>CCA342802382RIT1c.*75C>G (n.*75C>G)
c.238C>G (p.Gln80Glu)
c.*17C>G (n.*17C>G)
c.346C>G (p.Gln116Glu)
c.349C>G (p.Gln117Glu)
c.397C>G (p.Gln133Glu)
 dbSNP
1g.155904394G=CA1200375930RIT1c.*75C= (n.*75C=)
c.238C= (p.Gln80=)
c.*17C= (n.*17C=)
c.346C= (p.Gln116=)
c.349C= (p.Gln117=)
c.397C= (p.Gln133=)
1g.155904394G>TCA342802385RIT1c.*75C>A (n.*75C>A)
c.238C>A (p.Gln80Lys)
c.*17C>A (n.*17C>A)
c.346C>A (p.Gln116Lys)
c.349C>A (p.Gln117Lys)
c.397C>A (p.Gln133Lys)
1g.155904395T>ACA342802388RIT1c.*74A>T (n.*74A>T)
c.237A>T (p.Lys79Asn)
c.*16A>T (n.*16A>T)
c.345A>T (p.Lys115Asn)
c.348A>T (p.Lys116Asn)
c.396A>T (p.Lys132Asn)
1g.155904395T>CCA421058898RIT1c.*74A>G (n.*74A>G)
c.237A>G (p.Lys79=)
c.*16A>G (n.*16A>G)
c.345A>G (p.Lys115=)
c.348A>G (p.Lys116=)
c.396A>G (p.Lys132=)
1g.155904395T>GCA342802390RIT1c.*74A>C (n.*74A>C)
c.237A>C (p.Lys79Asn)
c.*16A>C (n.*16A>C)
c.345A>C (p.Lys115Asn)
c.348A>C (p.Lys116Asn)
c.396A>C (p.Lys132Asn)
1g.155904396T>ACA342802391RIT1c.*73A>T (n.*73A>T)
c.236A>T (p.Lys79Ile)
c.*15A>T (n.*15A>T)
c.344A>T (p.Lys115Ile)
c.347A>T (p.Lys116Ile)
c.395A>T (p.Lys132Ile)
1g.155904396T>CCA342802394RIT1c.*73A>G (n.*73A>G)
c.236A>G (p.Lys79Arg)
c.*15A>G (n.*15A>G)
c.344A>G (p.Lys115Arg)
c.347A>G (p.Lys116Arg)
c.395A>G (p.Lys132Arg)
1g.155904396T>GCA342802397RIT1c.*73A>C (n.*73A>C)
c.236A>C (p.Lys79Thr)
c.*15A>C (n.*15A>C)
c.344A>C (p.Lys115Thr)
c.347A>C (p.Lys116Thr)
c.395A>C (p.Lys132Thr)
1g.155904397T>ACA342802399RIT1c.*72A>T (n.*72A>T)
c.235A>T (p.Lys79Ter)
c.*14A>T (n.*14A>T)
c.343A>T (p.Lys115Ter)
c.346A>T (p.Lys116Ter)
c.394A>T (p.Lys132Ter)
1g.155904397T>CCA342802402RIT1c.*72A>G (n.*72A>G)
c.235A>G (p.Lys79Glu)
c.*14A>G (n.*14A>G)
c.343A>G (p.Lys115Glu)
c.346A>G (p.Lys116Glu)
c.394A>G (p.Lys132Glu)
1g.155904397T>GCA342802404RIT1c.*72A>C (n.*72A>C)
c.235A>C (p.Lys79Gln)
c.*14A>C (n.*14A>C)
c.343A>C (p.Lys115Gln)
c.346A>C (p.Lys116Gln)
c.394A>C (p.Lys132Gln)
1g.155904398A>CCA342802407RIT1c.*71T>G (n.*71T>G)
c.234T>G (p.Phe78Leu)
c.*13T>G (n.*13T>G)
c.342T>G (p.Phe114Leu)
c.345T>G (p.Phe115Leu)
c.393T>G (p.Phe131Leu)
1g.155904398A>GCA421058911RIT1c.*71T>C (n.*71T>C)
c.234T>C (p.Phe78=)
c.*13T>C (n.*13T>C)
c.342T>C (p.Phe114=)
c.345T>C (p.Phe115=)
c.393T>C (p.Phe131=)
1g.155904398A>TCA342802408RIT1c.*71T>A (n.*71T>A)
c.234T>A (p.Phe78Leu)
c.*13T>A (n.*13T>A)
c.342T>A (p.Phe114Leu)
c.345T>A (p.Phe115Leu)
c.393T>A (p.Phe131Leu)
1g.155904399A=CA1148263457RIT1c.*70T= (n.*70T=)
c.233T= (p.Phe78=)
c.*12T= (n.*12T=)
c.341T= (p.Phe114=)
c.344T= (p.Phe115=)
c.392T= (p.Phe131=)
1g.155904399A>CCA342802414RIT1c.*70T>G (n.*70T>G)
c.233T>G (p.Phe78Cys)
c.*12T>G (n.*12T>G)
c.341T>G (p.Phe114Cys)
c.344T>G (p.Phe115Cys)
c.392T>G (p.Phe131Cys)
1g.155904399A>GCA342802416RIT1c.*70T>C (n.*70T>C)
c.233T>C (p.Phe78Ser)
c.*12T>C (n.*12T>C)
c.341T>C (p.Phe114Ser)
c.344T>C (p.Phe115Ser)
c.392T>C (p.Phe131Ser)
1g.155904399A>TCA1151807RIT1c.*70T>A (n.*70T>A)
c.233T>A (p.Phe78Tyr)
c.*12T>A (n.*12T>A)
c.341T>A (p.Phe114Tyr)
c.344T>A (p.Phe115Tyr)
c.392T>A (p.Phe131Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155904400A=CA1200375931RIT1c.*69T= (n.*69T=)
c.232T= (p.Phe78=)
c.*11T= (n.*11T=)
c.340T= (p.Phe114=)
c.343T= (p.Phe115=)
c.391T= (p.Phe131=)
1g.155904400A>CCA342802419RIT1c.*69T>G (n.*69T>G)
c.232T>G (p.Phe78Val)
c.*11T>G (n.*11T>G)
c.340T>G (p.Phe114Val)
c.343T>G (p.Phe115Val)
c.391T>G (p.Phe131Val)
1g.155904400A>GCA342802421RIT1c.*69T>C (n.*69T>C)
c.232T>C (p.Phe78Leu)
c.*11T>C (n.*11T>C)
c.340T>C (p.Phe114Leu)
c.343T>C (p.Phe115Leu)
c.391T>C (p.Phe131Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.155904400A>TCA342802424RIT1c.*69T>A (n.*69T>A)
c.232T>A (p.Phe78Ile)
c.*11T>A (n.*11T>A)
c.340T>A (p.Phe114Ile)
c.343T>A (p.Phe115Ile)
c.391T>A (p.Phe131Ile)
1g.155904401C>ACA342802426RIT1c.*68G>T (n.*68G>T)
c.231G>T (p.Glu77Asp)
c.*10G>T (n.*10G>T)
c.339G>T (p.Glu113Asp)
c.342G>T (p.Glu114Asp)
c.390G>T (p.Glu130Asp)
1g.155904401C>GCA342802428RIT1c.*68G>C (n.*68G>C)
c.231G>C (p.Glu77Asp)
c.*10G>C (n.*10G>C)
c.339G>C (p.Glu113Asp)
c.342G>C (p.Glu114Asp)
c.390G>C (p.Glu130Asp)
1g.155904401C>TCA421058927RIT1c.*68G>A (n.*68G>A)
c.231G>A (p.Glu77=)
c.*10G>A (n.*10G>A)
c.339G>A (p.Glu113=)
c.342G>A (p.Glu114=)
c.390G>A (p.Glu130=)
1g.155904402T>ACA342802431RIT1c.*67A>T (n.*67A>T)
c.230A>T (p.Glu77Val)
c.*9A>T (n.*9A>T)
c.338A>T (p.Glu113Val)
c.341A>T (p.Glu114Val)
c.389A>T (p.Glu130Val)
 ClinVar dbSNP gnomAD v4
1g.155904402T>CCA342802433RIT1c.*67A>G (n.*67A>G)
c.230A>G (p.Glu77Gly)
c.*9A>G (n.*9A>G)
c.338A>G (p.Glu113Gly)
c.341A>G (p.Glu114Gly)
c.389A>G (p.Glu130Gly)
1g.155904402T>GCA342802435RIT1c.*67A>C (n.*67A>C)
c.230A>C (p.Glu77Ala)
c.*9A>C (n.*9A>C)
c.338A>C (p.Glu113Ala)
c.341A>C (p.Glu114Ala)
c.389A>C (p.Glu130Ala)
 dbSNP
1g.155904402T=CA1200375932RIT1c.*67A= (n.*67A=)
c.230A= (p.Glu77=)
c.*9A= (n.*9A=)
c.338A= (p.Glu113=)
c.341A= (p.Glu114=)
c.389A= (p.Glu130=)
1g.155904403C>ACA342802438RIT1c.*66G>T (n.*66G>T)
c.229G>T (p.Glu77Ter)
c.*8G>T (n.*8G>T)
c.337G>T (p.Glu113Ter)
c.340G>T (p.Glu114Ter)
c.388G>T (p.Glu130Ter)
1g.155904403C>GCA342802441RIT1c.*66G>C (n.*66G>C)
c.229G>C (p.Glu77Gln)
c.*8G>C (n.*8G>C)
c.337G>C (p.Glu113Gln)
c.340G>C (p.Glu114Gln)
c.388G>C (p.Glu130Gln)
1g.155904403C>TCA342802443RIT1c.*66G>A (n.*66G>A)
c.229G>A (p.Glu77Lys)
c.*8G>A (n.*8G>A)
c.337G>A (p.Glu113Lys)
c.340G>A (p.Glu114Lys)
c.388G>A (p.Glu130Lys)
1g.155904404A=CA1139849351RIT1c.*65T= (n.*65T=)
c.228T= (p.Arg76=)
c.*7T= (n.*7T=)
c.336T= (p.Arg112=)
c.339T= (p.Arg113=)
c.387T= (p.Arg129=)
1g.155904404A>CCA421058939RIT1c.*65T>G (n.*65T>G)
c.228T>G (p.Arg76=)
c.*7T>G (n.*7T>G)
c.336T>G (p.Arg112=)
c.339T>G (p.Arg113=)
c.387T>G (p.Arg129=)
1g.155904404A>GCA421058941RIT1c.*65T>C (n.*65T>C)
c.228T>C (p.Arg76=)
c.*7T>C (n.*7T>C)
c.336T>C (p.Arg112=)
c.339T>C (p.Arg113=)
c.387T>C (p.Arg129=)
1g.155904404A>TCA30984370RIT1c.*65T>A (n.*65T>A)
c.228T>A (p.Arg76=)
c.*7T>A (n.*7T>A)
c.336T>A (p.Arg112=)
c.339T>A (p.Arg113=)
c.387T>A (p.Arg129=)
 dbSNP
1g.155904405C>ACA342802453RIT1c.*64G>T (n.*64G>T)
c.227G>T (p.Arg76Leu)
c.*6G>T (n.*6G>T)
c.335G>T (p.Arg112Leu)
c.338G>T (p.Arg113Leu)
c.386G>T (p.Arg129Leu)
 gnomAD v4
1g.155904405C=CA1200375933RIT1c.*64G= (n.*64G=)
c.227G= (p.Arg76=)
c.*6G= (n.*6G=)
c.335G= (p.Arg112=)
c.338G= (p.Arg113=)
c.386G= (p.Arg129=)
1g.155904405C>GCA342802449RIT1c.*64G>C (n.*64G>C)
c.227G>C (p.Arg76Pro)
c.*6G>C (n.*6G>C)
c.335G>C (p.Arg112Pro)
c.338G>C (p.Arg113Pro)
c.386G>C (p.Arg129Pro)
1g.155904405C>TCA342802451RIT1c.*64G>A (n.*64G>A)
c.227G>A (p.Arg76His)
c.*6G>A (n.*6G>A)
c.335G>A (p.Arg112His)
c.338G>A (p.Arg113His)
c.386G>A (p.Arg129His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155904406G>ACA1151808RIT1c.*63C>T (n.*63C>T)
c.226C>T (p.Arg76Cys)
c.*5C>T (n.*5C>T)
c.334C>T (p.Arg112Cys)
c.337C>T (p.Arg113Cys)
c.385C>T (p.Arg129Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155904406G>CCA342802459RIT1c.*63C>G (n.*63C>G)
c.226C>G (p.Arg76Gly)
c.*5C>G (n.*5C>G)
c.334C>G (p.Arg112Gly)
c.337C>G (p.Arg113Gly)
c.385C>G (p.Arg129Gly)
1g.155904406G=CA1144079842RIT1c.*63C= (n.*63C=)
c.226C= (p.Arg76=)
c.*5C= (n.*5C=)
c.334C= (p.Arg112=)
c.337C= (p.Arg113=)
c.385C= (p.Arg129=)
1g.155904406G>TCA342802461RIT1c.*63C>A (n.*63C>A)
c.226C>A (p.Arg76Ser)
c.*5C>A (n.*5C>A)
c.334C>A (p.Arg112Ser)
c.337C>A (p.Arg113Ser)
c.385C>A (p.Arg129Ser)
1g.155904407A>CCA421058953RIT1c.*62T>G (n.*62T>G)
c.225T>G (p.Val75=)
c.*4T>G (n.*4T>G)
c.333T>G (p.Val111=)
c.336T>G (p.Val112=)
c.384T>G (p.Val128=)
1g.155904407A>GCA421058954RIT1c.*62T>C (n.*62T>C)
c.225T>C (p.Val75=)
c.*4T>C (n.*4T>C)
c.333T>C (p.Val111=)
c.336T>C (p.Val112=)
c.384T>C (p.Val128=)
1g.155904407A>TCA421058957RIT1c.*62T>A (n.*62T>A)
c.225T>A (p.Val75=)
c.*4T>A (n.*4T>A)
c.333T>A (p.Val111=)
c.336T>A (p.Val112=)
c.384T>A (p.Val128=)
1g.155904408A>CCA342802464RIT1c.*61T>G (n.*61T>G)
c.224T>G (p.Val75Gly)
c.*3T>G (n.*3T>G)
c.332T>G (p.Val111Gly)
c.335T>G (p.Val112Gly)
c.383T>G (p.Val128Gly)

Number of alleles fetched