Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47441675A=CA1969387585RAPSNc.848T= (p.Leu283=)
c.789+148T= (n.789+148T=)
c.689T= (p.Leu230=)
n.57T=
11g.47441675A>CCA380329298RAPSNc.848T>G (p.Leu283Arg)
c.789+148T>G (n.789+148T>G)
c.689T>G (p.Leu230Arg)
n.57T>G
11g.47441675A>GCA119255RAPSNc.848T>C (p.Leu283Pro)
c.789+148T>C (n.789+148T>C)
c.689T>C (p.Leu230Pro)
n.57T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441675A>TCA380329330RAPSNc.848T>A (p.Leu283Gln)
c.789+148T>A (n.789+148T>A)
c.689T>A (p.Leu230Gln)
n.57T>A
11g.47441676G>ACA474218149RAPSNc.847C>T (p.Leu283=)
c.789+147C>T (n.789+147C>T)
c.688C>T (p.Leu230=)
n.56C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441676G>CCA5976603RAPSNc.847C>G (p.Leu283Val)
c.789+147C>G (n.789+147C>G)
c.688C>G (p.Leu230Val)
n.56C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441676G=CA1969387586RAPSNc.847C= (p.Leu283=)
c.789+147C= (n.789+147C=)
c.688C= (p.Leu230=)
n.56C=
11g.47441676G>TCA380329336RAPSNc.847C>A (p.Leu283Met)
c.789+147C>A (n.789+147C>A)
c.688C>A (p.Leu230Met)
n.56C>A
 gnomAD v4
11g.47441677G>ACA474218150RAPSNc.846C>T (p.Arg282=)
c.789+146C>T (n.789+146C>T)
c.687C>T (p.Arg229=)
n.55C>T
 ClinVar dbSNP gnomAD v4
11g.47441677G>CCA474218151RAPSNc.846C>G (p.Arg282=)
c.789+146C>G (n.789+146C>G)
c.687C>G (p.Arg229=)
n.55C>G
11g.47441677G=CA1969387587RAPSNc.846C= (p.Arg282=)
c.789+146C= (n.789+146C=)
c.687C= (p.Arg229=)
n.55C=
11g.47441677G>TCA474218152RAPSNc.846C>A (p.Arg282=)
c.789+146C>A (n.789+146C>A)
c.687C>A (p.Arg229=)
n.55C>A
 gnomAD v4
11g.47441678C>ACA380329342RAPSNc.845G>T (p.Arg282Leu)
c.789+145G>T (n.789+145G>T)
c.686G>T (p.Arg229Leu)
n.54G>T
 ClinVar dbSNP gnomAD v4
11g.47441678C=CA1969387588RAPSNc.845G= (p.Arg282=)
c.789+145G= (n.789+145G=)
c.686G= (p.Arg229=)
n.54G=
11g.47441678C>GCA380329346RAPSNc.845G>C (p.Arg282Pro)
c.789+145G>C (n.789+145G>C)
c.686G>C (p.Arg229Pro)
n.54G>C
11g.47441678C>TCA5976604RAPSNc.845G>A (p.Arg282His)
c.789+145G>A (n.789+145G>A)
c.686G>A (p.Arg229His)
n.54G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441679G>ACA5976605RAPSNc.844C>T (p.Arg282Cys)
c.789+144C>T (n.789+144C>T)
c.685C>T (p.Arg229Cys)
n.53C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.47441679G>CCA380329356RAPSNc.844C>G (p.Arg282Gly)
c.789+144C>G (n.789+144C>G)
c.685C>G (p.Arg229Gly)
n.53C>G
11g.47441679G=CA1969387589RAPSNc.844C= (p.Arg282=)
c.789+144C= (n.789+144C=)
c.685C= (p.Arg229=)
n.53C=
11g.47441679G>TCA380329365RAPSNc.844C>A (p.Arg282Ser)
c.789+144C>A (n.789+144C>A)
c.685C>A (p.Arg229Ser)
n.53C>A
 gnomAD v4
11g.47441680G>ACA474218154RAPSNc.843C>T (p.Asn281=)
c.789+143C>T (n.789+143C>T)
c.684C>T (p.Asn228=)
n.52C>T
11g.47441680G>CCA380329370RAPSNc.843C>G (p.Asn281Lys)
c.789+143C>G (n.789+143C>G)
c.684C>G (p.Asn228Lys)
n.52C>G
11g.47441680G>TCA380329368RAPSNc.843C>A (p.Asn281Lys)
c.789+143C>A (n.789+143C>A)
c.684C>A (p.Asn228Lys)
n.52C>A
 gnomAD v4
11g.47441681T>ACA380329374RAPSNc.842A>T (p.Asn281Ile)
c.789+142A>T (n.789+142A>T)
c.683A>T (p.Asn228Ile)
n.51A>T
11g.47441681T>CCA380329376RAPSNc.842A>G (p.Asn281Ser)
c.789+142A>G (n.789+142A>G)
c.683A>G (p.Asn228Ser)
n.51A>G
 gnomAD v4
11g.47441681T>GCA380329383RAPSNc.842A>C (p.Asn281Thr)
c.789+142A>C (n.789+142A>C)
c.683A>C (p.Asn228Thr)
n.51A>C
 dbSNP
11g.47441682T>ACA380329402RAPSNc.841A>T (p.Asn281Tyr)
c.789+141A>T (n.789+141A>T)
c.682A>T (p.Asn228Tyr)
n.50A>T
11g.47441682T>CCA380329407RAPSNc.841A>G (p.Asn281Asp)
c.789+141A>G (n.789+141A>G)
c.682A>G (p.Asn228Asp)
n.50A>G
11g.47441682T>GCA380329423RAPSNc.841A>C (p.Asn281His)
c.789+141A>C (n.789+141A>C)
c.682A>C (p.Asn228His)
n.50A>C
 gnomAD v4
11g.47441683T>ACA474218158RAPSNc.840A>T (p.Gly280=)
c.789+140A>T (n.789+140A>T)
c.681A>T (p.Gly227=)
n.49A>T
11g.47441683T>CCA474218160RAPSNc.840A>G (p.Gly280=)
c.789+140A>G (n.789+140A>G)
c.681A>G (p.Gly227=)
n.49A>G
 gnomAD v4
11g.47441683T>GCA474218159RAPSNc.840A>C (p.Gly280=)
c.789+140A>C (n.789+140A>C)
c.681A>C (p.Gly227=)
n.49A>C
11g.47441684C>ACA380329453RAPSNc.839G>T (p.Gly280Val)
c.789+139G>T (n.789+139G>T)
c.680G>T (p.Gly227Val)
n.48G>T
 gnomAD v4
11g.47441684C>GCA380329433RAPSNc.839G>C (p.Gly280Ala)
c.789+139G>C (n.789+139G>C)
c.680G>C (p.Gly227Ala)
n.48G>C
11g.47441684C>TCA380329449RAPSNc.839G>A (p.Gly280Glu)
c.789+139G>A (n.789+139G>A)
c.680G>A (p.Gly227Glu)
n.48G>A
 COSMIC
11g.47441685C>ACA380329470RAPSNc.838G>T (p.Gly280Ter)
c.789+138G>T (n.789+138G>T)
c.679G>T (p.Gly227Ter)
n.47G>T
 ClinVar dbSNP gnomAD v4
11g.47441685C=CA1969387590RAPSNc.838G= (p.Gly280=)
c.789+138G= (n.789+138G=)
c.679G= (p.Gly227=)
n.47G=
11g.47441685C>GCA380329477RAPSNc.838G>C (p.Gly280Arg)
c.789+138G>C (n.789+138G>C)
c.679G>C (p.Gly227Arg)
n.47G>C
11g.47441685C>TCA380329479RAPSNc.838G>A (p.Gly280Arg)
c.789+138G>A (n.789+138G>A)
c.679G>A (p.Gly227Arg)
n.47G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441686G>ACA5976606RAPSNc.837C>T (p.Ile279=)
c.789+137C>T (n.789+137C>T)
c.678C>T (p.Ile226=)
n.46C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441686G>CCA5976607RAPSNc.837C>G (p.Ile279Met)
c.789+137C>G (n.789+137C>G)
c.678C>G (p.Ile226Met)
n.46C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441686G=CA1969387591RAPSNc.837C= (p.Ile279=)
c.789+137C= (n.789+137C=)
c.678C= (p.Ile226=)
n.46C=
11g.47441686G>TCA474218162RAPSNc.837C>A (p.Ile279=)
c.789+137C>A (n.789+137C>A)
c.678C>A (p.Ile226=)
n.46C>A
 dbSNP gnomAD v2 gnomAD v4
11g.47441687A>CCA380329504RAPSNc.836T>G (p.Ile279Ser)
c.789+136T>G (n.789+136T>G)
c.677T>G (p.Ile226Ser)
n.45T>G
11g.47441687A>GCA380329492RAPSNc.836T>C (p.Ile279Thr)
c.789+136T>C (n.789+136T>C)
c.677T>C (p.Ile226Thr)
n.45T>C
11g.47441687A>TCA380329501RAPSNc.836T>A (p.Ile279Asn)
c.789+136T>A (n.789+136T>A)
c.677T>A (p.Ile226Asn)
n.45T>A
11g.47441688T>ACA380329507RAPSNc.835A>T (p.Ile279Phe)
c.789+135A>T (n.789+135A>T)
c.676A>T (p.Ile226Phe)
n.44A>T
11g.47441688T>CCA380329539RAPSNc.835A>G (p.Ile279Val)
c.789+135A>G (n.789+135A>G)
c.676A>G (p.Ile226Val)
n.44A>G
 dbSNP gnomAD v2 gnomAD v4
11g.47441688T>GCA380329540RAPSNc.835A>C (p.Ile279Leu)
c.789+135A>C (n.789+135A>C)
c.676A>C (p.Ile226Leu)
n.44A>C
11g.47441688T=CA1969387592RAPSNc.835A= (p.Ile279=)
c.789+135A= (n.789+135A=)
c.676A= (p.Ile226=)
n.44A=

Number of alleles fetched