Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.44148538_44152555dupCA1139771162GCKc.*207-130_*678-705dup
c.209-130_680-705dup
n.695-130_2387dup
c.212-130_683-705dup
c.206-130_677-705dup
c.209-130_629-705dup
7g.44152320T>ACA367402726GCKc.*312A>T (n.*312A>T)
c.314A>T (p.His105Leu)
n.800A>T
c.317A>T (p.His106Leu)
c.311A>T (p.His104Leu)
7g.44152320T>CCA367402728GCKc.*312A>G (n.*312A>G)
c.314A>G (p.His105Arg)
n.800A>G
c.317A>G (p.His106Arg)
c.311A>G (p.His104Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44152320T>GCA367402729GCKc.*312A>C (n.*312A>C)
c.314A>C (p.His105Pro)
n.800A>C
c.317A>C (p.His106Pro)
c.311A>C (p.His104Pro)
7g.44152320T=CA1703637049GCKc.*312A= (n.*312A=)
c.314A= (p.His105=)
n.800A=
c.317A= (p.His106=)
c.311A= (p.His104=)
7g.44152322_44152325delCA2695202994GCKc.*309_*312del (n.*309_*312del)
c.311_314del (p.Lys104ThrfsTer11)
n.797_800del
c.314_317del (p.Lys105ThrfsTer11)
c.308_311del (p.Lys103ThrfsTer11)
7g.44152321delCA2695202995GCKc.*311del (n.*311del)
c.313del (p.His105ThrfsTer11)
n.799del
c.316del (p.His106ThrfsTer11)
c.310del (p.His104ThrfsTer11)
7g.44152321G>ACA367402731GCKc.*311C>T (n.*311C>T)
c.313C>T (p.His105Tyr)
n.799C>T
c.316C>T (p.His106Tyr)
c.310C>T (p.His104Tyr)
gnomAD v4
7g.44152321G>CCA367402733GCKc.*311C>G (n.*311C>G)
c.313C>G (p.His105Asp)
n.799C>G
c.316C>G (p.His106Asp)
c.310C>G (p.His104Asp)
7g.44152321G>TCA367402734GCKc.*311C>A (n.*311C>A)
c.313C>A (p.His105Asn)
n.799C>A
c.316C>A (p.His106Asn)
c.310C>A (p.His104Asn)
dbSNP
7g.44152329_44152330insCCGTTTGGTCTCA2695202996GCKc.*311_*312insGGAGACCAAAC (n.*311_*312insGGAGACCAAAC)
c.313_314insGGAGACCAAAC (p.His105ArgfsTer15)
n.799_800insGGAGACCAAAC
c.316_317insGGAGACCAAAC (p.His106ArgfsTer15)
c.310_311insGGAGACCAAAC (p.His104ArgfsTer15)
7g.44152322T>ACA367402735GCKc.*310A>T (n.*310A>T)
c.312A>T (p.Lys104Asn)
n.798A>T
c.315A>T (p.Lys105Asn)
c.309A>T (p.Lys103Asn)
7g.44152322T>CCA454610212GCKc.*310A>G (n.*310A>G)
c.312A>G (p.Lys104=)
n.798A>G
c.315A>G (p.Lys105=)
c.309A>G (p.Lys103=)
7g.44152322T>GCA367402736GCKc.*310A>C (n.*310A>C)
c.312A>C (p.Lys104Asn)
n.798A>C
c.315A>C (p.Lys105Asn)
c.309A>C (p.Lys103Asn)
7g.44152323T>ACA367402739GCKc.*309A>T (n.*309A>T)
c.311A>T (p.Lys104Ile)
n.797A>T
c.314A>T (p.Lys105Ile)
c.308A>T (p.Lys103Ile)
7g.44152323T>CCA367402740GCKc.*309A>G (n.*309A>G)
c.311A>G (p.Lys104Arg)
n.797A>G
c.314A>G (p.Lys105Arg)
c.308A>G (p.Lys103Arg)
7g.44152323T>GCA367402738GCKc.*309A>C (n.*309A>C)
c.311A>C (p.Lys104Thr)
n.797A>C
c.314A>C (p.Lys105Thr)
c.308A>C (p.Lys103Thr)
7g.44152324T>ACA367402742GCKc.*308A>T (n.*308A>T)
c.310A>T (p.Lys104Ter)
n.796A>T
c.313A>T (p.Lys105Ter)
c.307A>T (p.Lys103Ter)
7g.44152324T>CCA367402743GCKc.*308A>G (n.*308A>G)
c.310A>G (p.Lys104Glu)
n.796A>G
c.313A>G (p.Lys105Glu)
c.307A>G (p.Lys103Glu)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
7g.44152324T>GCA367402745GCKc.*308A>C (n.*308A>C)
c.310A>C (p.Lys104Gln)
n.796A>C
c.313A>C (p.Lys105Gln)
c.307A>C (p.Lys103Gln)
7g.44152324T=CA1703637050GCKc.*308A= (n.*308A=)
c.310A= (p.Lys104=)
n.796A=
c.313A= (p.Lys105=)
c.307A= (p.Lys103=)
7g.44152325G>ACA454610215GCKc.*307C>T (n.*307C>T)
c.309C>T (p.Thr103=)
n.795C>T
c.312C>T (p.Thr104=)
c.306C>T (p.Thr102=)
7g.44152325G>CCA454610216GCKc.*307C>G (n.*307C>G)
c.309C>G (p.Thr103=)
n.795C>G
c.312C>G (p.Thr104=)
c.306C>G (p.Thr102=)
7g.44152325G>TCA454610218GCKc.*307C>A (n.*307C>A)
c.309C>A (p.Thr103=)
n.795C>A
c.312C>A (p.Thr104=)
c.306C>A (p.Thr102=)
7g.44152326G>ACA367402747GCKc.*306C>T (n.*306C>T)
c.308C>T (p.Thr103Ile)
n.794C>T
c.311C>T (p.Thr104Ile)
c.305C>T (p.Thr102Ile)
7g.44152326G>CCA367402748GCKc.*306C>G (n.*306C>G)
c.308C>G (p.Thr103Ser)
n.794C>G
c.311C>G (p.Thr104Ser)
c.305C>G (p.Thr102Ser)
ClinVar gnomAD v4
7g.44152326G=CA1703637051GCKc.*306C= (n.*306C=)
c.308C= (p.Thr103=)
n.794C=
c.311C= (p.Thr104=)
c.305C= (p.Thr102=)
7g.44152326G>TCA367402750GCKc.*306C>A (n.*306C>A)
c.308C>A (p.Thr103Asn)
n.794C>A
c.311C>A (p.Thr104Asn)
c.305C>A (p.Thr102Asn)
dbSNP
7g.44152327delCA2573142148GCKc.*305del (n.*305del)
c.307del (p.Thr103ProfsTer13)
n.793del
c.310del (p.Thr104ProfsTer13)
c.304del (p.Thr102ProfsTer13)
ClinVar dbSNP
7g.44152327T>ACA367402757GCKc.*305A>T (n.*305A>T)
c.307A>T (p.Thr103Ser)
n.793A>T
c.310A>T (p.Thr104Ser)
c.304A>T (p.Thr102Ser)
ClinVar dbSNP
7g.44152327T>CCA367402755GCKc.*305A>G (n.*305A>G)
c.307A>G (p.Thr103Ala)
n.793A>G
c.310A>G (p.Thr104Ala)
c.304A>G (p.Thr102Ala)
gnomAD v4
7g.44152327T>GCA367402756GCKc.*305A>C (n.*305A>C)
c.307A>C (p.Thr103Pro)
n.793A>C
c.310A>C (p.Thr104Pro)
c.304A>C (p.Thr102Pro)
7g.44152327T=CA1703637052GCKc.*305A= (n.*305A=)
c.307A= (p.Thr103=)
n.793A=
c.310A= (p.Thr104=)
c.304A= (p.Thr102=)
7g.44152328C>ACA367402759GCKc.*304G>T (n.*304G>T)
c.306G>T (p.Lys102Asn)
n.792G>T
c.309G>T (p.Lys103Asn)
c.303G>T (p.Lys101Asn)
7g.44152328C>GCA367402761GCKc.*304G>C (n.*304G>C)
c.306G>C (p.Lys102Asn)
n.792G>C
c.309G>C (p.Lys103Asn)
c.303G>C (p.Lys101Asn)
gnomAD v4
7g.44152328C>TCA454610224GCKc.*304G>A (n.*304G>A)
c.306G>A (p.Lys102=)
n.792G>A
c.309G>A (p.Lys103=)
c.303G>A (p.Lys101=)
gnomAD v4
7g.44152329T>ACA367402763GCKc.*303A>T (n.*303A>T)
c.305A>T (p.Lys102Met)
n.791A>T
c.308A>T (p.Lys103Met)
c.302A>T (p.Lys101Met)
7g.44152329T>CCA367402764GCKc.*303A>G (n.*303A>G)
c.305A>G (p.Lys102Arg)
n.791A>G
c.308A>G (p.Lys103Arg)
c.302A>G (p.Lys101Arg)
7g.44152329T>GCA367402765GCKc.*303A>C (n.*303A>C)
c.305A>C (p.Lys102Thr)
n.791A>C
c.308A>C (p.Lys103Thr)
c.302A>C (p.Lys101Thr)
dbSNP
7g.44152329T=CA1703637053GCKc.*303A= (n.*303A=)
c.305A= (p.Lys102=)
n.791A=
c.308A= (p.Lys103=)
c.302A= (p.Lys101=)
7g.44152330T>ACA213775GCKc.*302A>T (n.*302A>T)
c.304A>T (p.Lys102Ter)
n.790A>T
c.307A>T (p.Lys103Ter)
c.301A>T (p.Lys101Ter)
ClinVar dbSNP
7g.44152330T>CCA367402771GCKc.*302A>G (n.*302A>G)
c.304A>G (p.Lys102Glu)
n.790A>G
c.307A>G (p.Lys103Glu)
c.301A>G (p.Lys101Glu)
7g.44152330T>GCA367402769GCKc.*302A>C (n.*302A>C)
c.304A>C (p.Lys102Gln)
n.790A>C
c.307A>C (p.Lys103Gln)
c.301A>C (p.Lys101Gln)
7g.44152330T=CA1703637054GCKc.*302A= (n.*302A=)
c.304A= (p.Lys102=)
n.790A=
c.307A= (p.Lys103=)
c.301A= (p.Lys101=)
7g.44152331C>ACA454610230GCKc.*301G>T (n.*301G>T)
c.303G>T (p.Val101=)
n.789G>T
c.306G>T (p.Val102=)
c.300G>T (p.Val100=)
7g.44152331C>GCA454610231GCKc.*301G>C (n.*301G>C)
c.303G>C (p.Val101=)
n.789G>C
c.306G>C (p.Val102=)
c.300G>C (p.Val100=)
7g.44152331C>TCA454610232GCKc.*301G>A (n.*301G>A)
c.303G>A (p.Val101=)
n.789G>A
c.306G>A (p.Val102=)
c.300G>A (p.Val100=)
gnomAD v4 COSMIC COSMIC COSMIC
7g.44152332A=CA1703637055GCKc.*300T= (n.*300T=)
c.302T= (p.Val101=)
n.788T=
c.305T= (p.Val102=)
c.299T= (p.Val100=)
7g.44152332A>CCA367402773GCKc.*300T>G (n.*300T>G)
c.302T>G (p.Val101Gly)
n.788T>G
c.305T>G (p.Val102Gly)
c.299T>G (p.Val100Gly)
7g.44152332A>GCA367402774GCKc.*300T>C (n.*300T>C)
c.302T>C (p.Val101Ala)
n.788T>C
c.305T>C (p.Val102Ala)
c.299T>C (p.Val100Ala)
dbSNP

Number of alleles fetched