Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.74525316A>CCA377397941ADKc.616A>C (p.Asn206His)
c.565A>C (p.Asn189His)
c.340A>C (p.Asn114His)
c.556-63966A>C (n.556-63966A>C)
c.356A>C
c.*361A>C (n.*361A>C)
c.511A>C (p.Asn171His)
n.259+2450T>G
c.532A>C (p.Asn178His)
c.421A>C (p.Asn141His)
c.505-63966A>C (n.505-63966A>C)
10g.74525316A>GCA377397942ADKc.616A>G (p.Asn206Asp)
c.565A>G (p.Asn189Asp)
c.340A>G (p.Asn114Asp)
c.556-63966A>G (n.556-63966A>G)
c.356A>G
c.*361A>G (n.*361A>G)
c.511A>G (p.Asn171Asp)
n.259+2450T>C
c.532A>G (p.Asn178Asp)
c.421A>G (p.Asn141Asp)
c.505-63966A>G (n.505-63966A>G)
10g.74525316A>TCA377397943ADKc.616A>T (p.Asn206Tyr)
c.565A>T (p.Asn189Tyr)
c.340A>T (p.Asn114Tyr)
c.556-63966A>T (n.556-63966A>T)
c.356A>T
c.*361A>T (n.*361A>T)
c.511A>T (p.Asn171Tyr)
n.259+2450T>A
c.532A>T (p.Asn178Tyr)
c.421A>T (p.Asn141Tyr)
c.505-63966A>T (n.505-63966A>T)
10g.74525317A>CCA377397946ADKc.617A>C (p.Asn206Thr)
c.566A>C (p.Asn189Thr)
c.341A>C (p.Asn114Thr)
c.556-63965A>C (n.556-63965A>C)
c.357A>C
c.*362A>C (n.*362A>C)
c.512A>C (p.Asn171Thr)
n.259+2449T>G
c.533A>C (p.Asn178Thr)
c.422A>C (p.Asn141Thr)
c.505-63965A>C (n.505-63965A>C)
10g.74525317A>GCA377397945ADKc.617A>G (p.Asn206Ser)
c.566A>G (p.Asn189Ser)
c.341A>G (p.Asn114Ser)
c.556-63965A>G (n.556-63965A>G)
c.357A>G
c.*362A>G (n.*362A>G)
c.512A>G (p.Asn171Ser)
n.259+2449T>C
c.533A>G (p.Asn178Ser)
c.422A>G (p.Asn141Ser)
c.505-63965A>G (n.505-63965A>G)
10g.74525317A>TCA377397944ADKc.617A>T (p.Asn206Ile)
c.566A>T (p.Asn189Ile)
c.341A>T (p.Asn114Ile)
c.556-63965A>T (n.556-63965A>T)
c.357A>T
c.*362A>T (n.*362A>T)
c.512A>T (p.Asn171Ile)
n.259+2449T>A
c.533A>T (p.Asn178Ile)
c.422A>T (p.Asn141Ile)
c.505-63965A>T (n.505-63965A>T)
10g.74525318C>ACA377397947ADKc.618C>A (p.Asn206Lys)
c.567C>A (p.Asn189Lys)
c.342C>A (p.Asn114Lys)
c.556-63964C>A (n.556-63964C>A)
c.358C>A
c.*363C>A (n.*363C>A)
c.513C>A (p.Asn171Lys)
n.259+2448G>T
c.534C>A (p.Asn178Lys)
c.423C>A (p.Asn141Lys)
c.505-63964C>A (n.505-63964C>A)
10g.74525318C>GCA377397948ADKc.618C>G (p.Asn206Lys)
c.567C>G (p.Asn189Lys)
c.342C>G (p.Asn114Lys)
c.556-63964C>G (n.556-63964C>G)
c.358C>G
c.*363C>G (n.*363C>G)
c.513C>G (p.Asn171Lys)
n.259+2448G>C
c.534C>G (p.Asn178Lys)
c.423C>G (p.Asn141Lys)
c.505-63964C>G (n.505-63964C>G)
10g.74525318C>TCA470254809ADKc.618C>T (p.Asn206=)
c.567C>T (p.Asn189=)
c.342C>T (p.Asn114=)
c.556-63964C>T (n.556-63964C>T)
c.358C>T
c.*363C>T (n.*363C>T)
c.513C>T (p.Asn171=)
n.259+2448G>A
c.534C>T (p.Asn178=)
c.423C>T (p.Asn141=)
c.505-63964C>T (n.505-63964C>T)
gnomAD v4
10g.74525319A>CCA377397949ADKc.619A>C (p.Asn207His)
c.568A>C (p.Asn190His)
c.343A>C (p.Asn115His)
c.556-63963A>C (n.556-63963A>C)
c.359A>C
c.*364A>C (n.*364A>C)
c.514A>C (p.Asn172His)
n.259+2447T>G
c.535A>C (p.Asn179His)
c.424A>C (p.Asn142His)
c.505-63963A>C (n.505-63963A>C)
10g.74525319A>GCA377397950ADKc.619A>G (p.Asn207Asp)
c.568A>G (p.Asn190Asp)
c.343A>G (p.Asn115Asp)
c.556-63963A>G (n.556-63963A>G)
c.359A>G
c.*364A>G (n.*364A>G)
c.514A>G (p.Asn172Asp)
n.259+2447T>C
c.535A>G (p.Asn179Asp)
c.424A>G (p.Asn142Asp)
c.505-63963A>G (n.505-63963A>G)
10g.74525319A>TCA377397951ADKc.619A>T (p.Asn207Tyr)
c.568A>T (p.Asn190Tyr)
c.343A>T (p.Asn115Tyr)
c.556-63963A>T (n.556-63963A>T)
c.359A>T
c.*364A>T (n.*364A>T)
c.514A>T (p.Asn172Tyr)
n.259+2447T>A
c.535A>T (p.Asn179Tyr)
c.424A>T (p.Asn142Tyr)
c.505-63963A>T (n.505-63963A>T)
10g.74525320A>CCA377397952ADKc.620A>C (p.Asn207Thr)
c.569A>C (p.Asn190Thr)
c.344A>C (p.Asn115Thr)
c.556-63962A>C (n.556-63962A>C)
c.360A>C
c.*365A>C (n.*365A>C)
c.515A>C (p.Asn172Thr)
n.259+2446T>G
c.536A>C (p.Asn179Thr)
c.425A>C (p.Asn142Thr)
c.505-63962A>C (n.505-63962A>C)
ClinVar dbSNP
10g.74525320A>GCA377397953ADKc.620A>G (p.Asn207Ser)
c.569A>G (p.Asn190Ser)
c.344A>G (p.Asn115Ser)
c.556-63962A>G (n.556-63962A>G)
c.360A>G
c.*365A>G (n.*365A>G)
c.515A>G (p.Asn172Ser)
n.259+2446T>C
c.536A>G (p.Asn179Ser)
c.425A>G (p.Asn142Ser)
c.505-63962A>G (n.505-63962A>G)
10g.74525320A>TCA377397954ADKc.620A>T (p.Asn207Ile)
c.569A>T (p.Asn190Ile)
c.344A>T (p.Asn115Ile)
c.556-63962A>T (n.556-63962A>T)
c.360A>T
c.*365A>T (n.*365A>T)
c.515A>T (p.Asn172Ile)
n.259+2446T>A
c.536A>T (p.Asn179Ile)
c.425A>T (p.Asn142Ile)
c.505-63962A>T (n.505-63962A>T)
10g.74525321C>ACA377397955ADKc.621C>A (p.Asn207Lys)
c.570C>A (p.Asn190Lys)
c.345C>A (p.Asn115Lys)
c.556-63961C>A (n.556-63961C>A)
c.361C>A
c.*366C>A (n.*366C>A)
c.516C>A (p.Asn172Lys)
n.259+2445G>T
c.537C>A (p.Asn179Lys)
c.426C>A (p.Asn142Lys)
c.505-63961C>A (n.505-63961C>A)
10g.74525321C>GCA377397956ADKc.621C>G (p.Asn207Lys)
c.570C>G (p.Asn190Lys)
c.345C>G (p.Asn115Lys)
c.556-63961C>G (n.556-63961C>G)
c.361C>G
c.*366C>G (n.*366C>G)
c.516C>G (p.Asn172Lys)
n.259+2445G>C
c.537C>G (p.Asn179Lys)
c.426C>G (p.Asn142Lys)
c.505-63961C>G (n.505-63961C>G)
10g.74525321C>TCA470254810ADKc.621C>T (p.Asn207=)
c.570C>T (p.Asn190=)
c.345C>T (p.Asn115=)
c.556-63961C>T (n.556-63961C>T)
c.361C>T
c.*366C>T (n.*366C>T)
c.516C>T (p.Asn172=)
n.259+2445G>A
c.537C>T (p.Asn179=)
c.426C>T (p.Asn142=)
c.505-63961C>T (n.505-63961C>T)
gnomAD v4
10g.74525322A>CCA470254811ADKc.622A>C (p.Arg208=)
c.571A>C (p.Arg191=)
c.346A>C (p.Arg116=)
c.556-63960A>C (n.556-63960A>C)
c.362A>C
c.*367A>C (n.*367A>C)
c.517A>C (p.Arg173=)
n.259+2444T>G
c.538A>C (p.Arg180=)
c.427A>C (p.Arg143=)
c.505-63960A>C (n.505-63960A>C)
10g.74525322A>GCA377397957ADKc.622A>G (p.Arg208Gly)
c.571A>G (p.Arg191Gly)
c.346A>G (p.Arg116Gly)
c.556-63960A>G (n.556-63960A>G)
c.362A>G
c.*367A>G (n.*367A>G)
c.517A>G (p.Arg173Gly)
n.259+2444T>C
c.538A>G (p.Arg180Gly)
c.427A>G (p.Arg143Gly)
c.505-63960A>G (n.505-63960A>G)
10g.74525322A>TCA377397958ADKc.622A>T (p.Arg208Trp)
c.571A>T (p.Arg191Trp)
c.346A>T (p.Arg116Trp)
c.556-63960A>T (n.556-63960A>T)
c.362A>T
c.*367A>T (n.*367A>T)
c.517A>T (p.Arg173Trp)
n.259+2444T>A
c.538A>T (p.Arg180Trp)
c.427A>T (p.Arg143Trp)
c.505-63960A>T (n.505-63960A>T)
10g.74525323G>ACA377397961ADKc.623G>A (p.Arg208Lys)
c.572G>A (p.Arg191Lys)
c.347G>A (p.Arg116Lys)
c.556-63959G>A (n.556-63959G>A)
c.363G>A
c.*368G>A (n.*368G>A)
c.518G>A (p.Arg173Lys)
n.259+2443C>T
c.539G>A (p.Arg180Lys)
c.428G>A (p.Arg143Lys)
c.505-63959G>A (n.505-63959G>A)
10g.74525323G>CCA377397960ADKc.623G>C (p.Arg208Thr)
c.572G>C (p.Arg191Thr)
c.347G>C (p.Arg116Thr)
c.556-63959G>C (n.556-63959G>C)
c.363G>C
c.*368G>C (n.*368G>C)
c.518G>C (p.Arg173Thr)
n.259+2443C>G
c.539G>C (p.Arg180Thr)
c.428G>C (p.Arg143Thr)
c.505-63959G>C (n.505-63959G>C)
10g.74525323G>TCA377397959ADKc.623G>T (p.Arg208Met)
c.572G>T (p.Arg191Met)
c.347G>T (p.Arg116Met)
c.556-63959G>T (n.556-63959G>T)
c.363G>T
c.*368G>T (n.*368G>T)
c.518G>T (p.Arg173Met)
n.259+2443C>A
c.539G>T (p.Arg180Met)
c.428G>T (p.Arg143Met)
c.505-63959G>T (n.505-63959G>T)
10g.74525324G>ACA470254812ADKc.624G>A (p.Arg208=)
c.573G>A (p.Arg191=)
c.348G>A (p.Arg116=)
c.556-63958G>A (n.556-63958G>A)
c.364G>A
c.*369G>A (n.*369G>A)
c.519G>A (p.Arg173=)
n.259+2442C>T
c.540G>A (p.Arg180=)
c.429G>A (p.Arg143=)
c.505-63958G>A (n.505-63958G>A)
10g.74525324G>CCA377397962ADKc.624G>C (p.Arg208Ser)
c.573G>C (p.Arg191Ser)
c.348G>C (p.Arg116Ser)
c.556-63958G>C (n.556-63958G>C)
c.364G>C
c.*369G>C (n.*369G>C)
c.519G>C (p.Arg173Ser)
n.259+2442C>G
c.540G>C (p.Arg180Ser)
c.429G>C (p.Arg143Ser)
c.505-63958G>C (n.505-63958G>C)
10g.74525324G>TCA377397963ADKc.624G>T (p.Arg208Ser)
c.573G>T (p.Arg191Ser)
c.348G>T (p.Arg116Ser)
c.556-63958G>T (n.556-63958G>T)
c.364G>T
c.*369G>T (n.*369G>T)
c.519G>T (p.Arg173Ser)
n.259+2442C>A
c.540G>T (p.Arg180Ser)
c.429G>T (p.Arg143Ser)
c.505-63958G>T (n.505-63958G>T)
10g.74525325A=CA1920088378ADKc.625A= (p.Ile209=)
c.574A= (p.Ile192=)
c.349A= (p.Ile117=)
c.556-63957A= (n.556-63957A=)
c.365A=
c.*370A= (n.*370A=)
c.520A= (p.Ile174=)
n.259+2441T=
c.541A= (p.Ile181=)
c.430A= (p.Ile144=)
c.505-63957A= (n.505-63957A=)
10g.74525325A>CCA377397964ADKc.625A>C (p.Ile209Leu)
c.574A>C (p.Ile192Leu)
c.349A>C (p.Ile117Leu)
c.556-63957A>C (n.556-63957A>C)
c.365A>C
c.*370A>C (n.*370A>C)
c.520A>C (p.Ile174Leu)
n.259+2441T>G
c.541A>C (p.Ile181Leu)
c.430A>C (p.Ile144Leu)
c.505-63957A>C (n.505-63957A>C)
10g.74525325A>GCA377397965ADKc.625A>G (p.Ile209Val)
c.574A>G (p.Ile192Val)
c.349A>G (p.Ile117Val)
c.556-63957A>G (n.556-63957A>G)
c.365A>G
c.*370A>G (n.*370A>G)
c.520A>G (p.Ile174Val)
n.259+2441T>C
c.541A>G (p.Ile181Val)
c.430A>G (p.Ile144Val)
c.505-63957A>G (n.505-63957A>G)
10g.74525325A>TCA5564005ADKc.625A>T (p.Ile209Phe)
c.574A>T (p.Ile192Phe)
c.349A>T (p.Ile117Phe)
c.556-63957A>T (n.556-63957A>T)
c.365A>T
c.*370A>T (n.*370A>T)
c.520A>T (p.Ile174Phe)
n.259+2441T>A
c.541A>T (p.Ile181Phe)
c.430A>T (p.Ile144Phe)
c.505-63957A>T (n.505-63957A>T)
dbSNP ExAC gnomAD v2
10g.74525326T>ACA377397966ADKc.626T>A (p.Ile209Asn)
c.575T>A (p.Ile192Asn)
c.350T>A (p.Ile117Asn)
c.556-63956T>A (n.556-63956T>A)
c.366T>A
c.*371T>A (n.*371T>A)
c.521T>A (p.Ile174Asn)
n.259+2440A>T
c.542T>A (p.Ile181Asn)
c.431T>A (p.Ile144Asn)
c.505-63956T>A (n.505-63956T>A)
10g.74525326T>CCA377397967ADKc.626T>C (p.Ile209Thr)
c.575T>C (p.Ile192Thr)
c.350T>C (p.Ile117Thr)
c.556-63956T>C (n.556-63956T>C)
c.366T>C
c.*371T>C (n.*371T>C)
c.521T>C (p.Ile174Thr)
n.259+2440A>G
c.542T>C (p.Ile181Thr)
c.431T>C (p.Ile144Thr)
c.505-63956T>C (n.505-63956T>C)
10g.74525326T>GCA377397968ADKc.626T>G (p.Ile209Ser)
c.575T>G (p.Ile192Ser)
c.350T>G (p.Ile117Ser)
c.556-63956T>G (n.556-63956T>G)
c.366T>G
c.*371T>G (n.*371T>G)
c.521T>G (p.Ile174Ser)
n.259+2440A>C
c.542T>G (p.Ile181Ser)
c.431T>G (p.Ile144Ser)
c.505-63956T>G (n.505-63956T>G)
10g.74525327T>ACA470254813ADKc.627T>A (p.Ile209=)
c.576T>A (p.Ile192=)
c.351T>A (p.Ile117=)
c.556-63955T>A (n.556-63955T>A)
c.367T>A
c.*372T>A (n.*372T>A)
c.522T>A (p.Ile174=)
n.259+2439A>T
c.543T>A (p.Ile181=)
c.432T>A (p.Ile144=)
c.505-63955T>A (n.505-63955T>A)
10g.74525327T>CCA470254814ADKc.627T>C (p.Ile209=)
c.576T>C (p.Ile192=)
c.351T>C (p.Ile117=)
c.556-63955T>C (n.556-63955T>C)
c.367T>C
c.*372T>C (n.*372T>C)
c.522T>C (p.Ile174=)
n.259+2439A>G
c.543T>C (p.Ile181=)
c.432T>C (p.Ile144=)
c.505-63955T>C (n.505-63955T>C)
dbSNP gnomAD v3 gnomAD v4
10g.74525327T>GCA377397969ADKc.627T>G (p.Ile209Met)
c.576T>G (p.Ile192Met)
c.351T>G (p.Ile117Met)
c.556-63955T>G (n.556-63955T>G)
c.367T>G
c.*372T>G (n.*372T>G)
c.522T>G (p.Ile174Met)
n.259+2439A>C
c.543T>G (p.Ile181Met)
c.432T>G (p.Ile144Met)
c.505-63955T>G (n.505-63955T>G)
10g.74525327T=CA1920088381ADKc.627T= (p.Ile209=)
c.576T= (p.Ile192=)
c.351T= (p.Ile117=)
c.556-63955T= (n.556-63955T=)
c.367T=
c.*372T= (n.*372T=)
c.522T= (p.Ile174=)
n.259+2439A=
c.543T= (p.Ile181=)
c.432T= (p.Ile144=)
c.505-63955T= (n.505-63955T=)
10g.74525328T>ACA377397970ADKc.628T>A (p.Phe210Ile)
c.577T>A (p.Phe193Ile)
c.352T>A (p.Phe118Ile)
c.556-63954T>A (n.556-63954T>A)
c.368T>A
c.*373T>A (n.*373T>A)
c.523T>A (p.Phe175Ile)
n.259+2438A>T
c.544T>A (p.Phe182Ile)
c.433T>A (p.Phe145Ile)
c.505-63954T>A (n.505-63954T>A)
10g.74525328T>CCA377397971ADKc.628T>C (p.Phe210Leu)
c.577T>C (p.Phe193Leu)
c.352T>C (p.Phe118Leu)
c.556-63954T>C (n.556-63954T>C)
c.368T>C
c.*373T>C (n.*373T>C)
c.523T>C (p.Phe175Leu)
n.259+2438A>G
c.544T>C (p.Phe182Leu)
c.433T>C (p.Phe145Leu)
c.505-63954T>C (n.505-63954T>C)
10g.74525328T>GCA377397972ADKc.628T>G (p.Phe210Val)
c.577T>G (p.Phe193Val)
c.352T>G (p.Phe118Val)
c.556-63954T>G (n.556-63954T>G)
c.368T>G
c.*373T>G (n.*373T>G)
c.523T>G (p.Phe175Val)
n.259+2438A>C
c.544T>G (p.Phe182Val)
c.433T>G (p.Phe145Val)
c.505-63954T>G (n.505-63954T>G)
10g.74525329T>ACA377397973ADKc.629T>A (p.Phe210Tyr)
c.578T>A (p.Phe193Tyr)
c.353T>A (p.Phe118Tyr)
c.556-63953T>A (n.556-63953T>A)
c.369T>A
c.*374T>A (n.*374T>A)
c.524T>A (p.Phe175Tyr)
n.259+2437A>T
c.545T>A (p.Phe182Tyr)
c.434T>A (p.Phe145Tyr)
c.505-63953T>A (n.505-63953T>A)
10g.74525329T>CCA377397974ADKc.629T>C (p.Phe210Ser)
c.578T>C (p.Phe193Ser)
c.353T>C (p.Phe118Ser)
c.556-63953T>C (n.556-63953T>C)
c.369T>C
c.*374T>C (n.*374T>C)
c.524T>C (p.Phe175Ser)
n.259+2437A>G
c.545T>C (p.Phe182Ser)
c.434T>C (p.Phe145Ser)
c.505-63953T>C (n.505-63953T>C)
10g.74525329T>GCA377397975ADKc.629T>G (p.Phe210Cys)
c.578T>G (p.Phe193Cys)
c.353T>G (p.Phe118Cys)
c.556-63953T>G (n.556-63953T>G)
c.369T>G
c.*374T>G (n.*374T>G)
c.524T>G (p.Phe175Cys)
n.259+2437A>C
c.545T>G (p.Phe182Cys)
c.434T>G (p.Phe145Cys)
c.505-63953T>G (n.505-63953T>G)
10g.74525330C>ACA377397976ADKc.630C>A (p.Phe210Leu)
c.579C>A (p.Phe193Leu)
c.354C>A (p.Phe118Leu)
c.556-63952C>A (n.556-63952C>A)
c.370C>A
c.*375C>A (n.*375C>A)
c.525C>A (p.Phe175Leu)
n.259+2436G>T
c.546C>A (p.Phe182Leu)
c.435C>A (p.Phe145Leu)
c.505-63952C>A (n.505-63952C>A)
10g.74525330C>GCA377397977ADKc.630C>G (p.Phe210Leu)
c.579C>G (p.Phe193Leu)
c.354C>G (p.Phe118Leu)
c.556-63952C>G (n.556-63952C>G)
c.370C>G
c.*375C>G (n.*375C>G)
c.525C>G (p.Phe175Leu)
n.259+2436G>C
c.546C>G (p.Phe182Leu)
c.435C>G (p.Phe145Leu)
c.505-63952C>G (n.505-63952C>G)
10g.74525330C>TCA470254815ADKc.630C>T (p.Phe210=)
c.579C>T (p.Phe193=)
c.354C>T (p.Phe118=)
c.556-63952C>T (n.556-63952C>T)
c.370C>T
c.*375C>T (n.*375C>T)
c.525C>T (p.Phe175=)
n.259+2436G>A
c.546C>T (p.Phe182=)
c.435C>T (p.Phe145=)
c.505-63952C>T (n.505-63952C>T)
10g.74525331A=CA1920088384ADKc.631A= (p.Thr211=)
c.580A= (p.Thr194=)
c.355A= (p.Thr119=)
c.556-63951A= (n.556-63951A=)
c.371A=
c.*376A= (n.*376A=)
c.526A= (p.Thr176=)
n.259+2435T=
c.547A= (p.Thr183=)
c.436A= (p.Thr146=)
c.505-63951A= (n.505-63951A=)
10g.74525331A>CCA377397978ADKc.631A>C (p.Thr211Pro)
c.580A>C (p.Thr194Pro)
c.355A>C (p.Thr119Pro)
c.556-63951A>C (n.556-63951A>C)
c.371A>C
c.*376A>C (n.*376A>C)
c.526A>C (p.Thr176Pro)
n.259+2435T>G
c.547A>C (p.Thr183Pro)
c.436A>C (p.Thr146Pro)
c.505-63951A>C (n.505-63951A>C)
10g.74525331A>GCA377397979ADKc.631A>G (p.Thr211Ala)
c.580A>G (p.Thr194Ala)
c.355A>G (p.Thr119Ala)
c.556-63951A>G (n.556-63951A>G)
c.371A>G
c.*376A>G (n.*376A>G)
c.526A>G (p.Thr176Ala)
n.259+2435T>C
c.547A>G (p.Thr183Ala)
c.436A>G (p.Thr146Ala)
c.505-63951A>G (n.505-63951A>G)

Number of alleles fetched