Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.133256050_133256085delinsTGGAGTCAGGATCTCCACGCCCACGTGGTCGCGGATCA200765404ABOn.675_710delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA
n.54-4933_54-4898delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA
c.28+19077_28+19112delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA (n.28+19077_28+19112delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA)
n.657_692delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA
c.643_678delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA (p.Phe215Ile)
c.646_681delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA (p.Phe216Ile)
dbSNP
9g.133256050_133256085delinsCGGAGTCAGGATCTCCACGCCCACGTGGTCGCGGAACA1882580254ABOn.675_710delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG
n.54-4933_54-4898delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG
c.28+19077_28+19112delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG (n.28+19077_28+19112delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG)
n.657_692delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG
c.643_678delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG (p.Phe215=)
c.646_681delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG (p.Phe216=)
9g.133256073_133256074delinsCGCA1882580278ABOn.686_687delinsCG
n.54-4922_54-4921delinsCG
c.28+19088_28+19089delinsCG (n.28+19088_28+19089delinsCG)
n.668_669delinsCG
c.654_655delinsCG (p.His218=)
c.657_658delinsCG (p.His219=)
9g.133256074delCA200765413ABOn.686del
n.54-4922del
c.28+19088del (n.28+19088del)
n.668del
c.654del (p.His218GlnfsTer7)
c.657del (p.His219GlnfsTer7)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.133256074G>ACA5305773ABOn.686C>T
n.54-4922C>T
c.28+19088C>T (n.28+19088C>T)
n.668C>T
c.654C>T (p.His218=)
c.657C>T (p.His219=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.133256074G>CCA375685733ABOn.686C>G
n.54-4922C>G
c.28+19088C>G (n.28+19088C>G)
n.668C>G
c.654C>G (p.His218Gln)
c.657C>G (p.His219Gln)
gnomAD v4 COSMIC
9g.133256074G=CA1882580280ABOn.686C=
n.54-4922C=
c.28+19088C= (n.28+19088C=)
n.668C=
c.654C= (p.His218=)
c.657C= (p.His219=)
9g.133256074G>TCA375685735ABOn.686C>A
n.54-4922C>A
c.28+19088C>A (n.28+19088C>A)
n.668C>A
c.654C>A (p.His218Gln)
c.657C>A (p.His219Gln)
gnomAD v4
9g.133256075T>ACA375685739ABOn.685A>T
n.54-4923A>T
c.28+19087A>T (n.28+19087A>T)
n.667A>T
c.653A>T (p.His218Leu)
c.656A>T (p.His219Leu)
9g.133256075T>CCA375685741ABOn.685A>G
n.54-4923A>G
c.28+19087A>G (n.28+19087A>G)
n.667A>G
c.653A>G (p.His218Arg)
c.656A>G (p.His219Arg)
dbSNP gnomAD v2 gnomAD v4
9g.133256075T>GCA375685742ABOn.685A>C
n.54-4923A>C
c.28+19087A>C (n.28+19087A>C)
n.667A>C
c.653A>C (p.His218Pro)
c.656A>C (p.His219Pro)
9g.133256075T=CA1882580281ABOn.685A=
n.54-4923A=
c.28+19087A= (n.28+19087A=)
n.667A=
c.653A= (p.His218=)
c.656A= (p.His219=)
9g.133256076G>ACA375685744ABOn.684C>T
n.54-4924C>T
c.28+19086C>T (n.28+19086C>T)
n.666C>T
c.652C>T (p.His218Tyr)
c.655C>T (p.His219Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.133256076G>CCA375685746ABOn.684C>G
n.54-4924C>G
c.28+19086C>G (n.28+19086C>G)
n.666C>G
c.652C>G (p.His218Asp)
c.655C>G (p.His219Asp)
gnomAD v4
9g.133256076G=CA1882580284ABOn.684C=
n.54-4924C=
c.28+19086C= (n.28+19086C=)
n.666C=
c.652C= (p.His218=)
c.655C= (p.His219=)
9g.133256076G>TCA375685747ABOn.684C>A
n.54-4924C>A
c.28+19086C>A (n.28+19086C>A)
n.666C>A
c.652C>A (p.His218Asn)
c.655C>A (p.His219Asn)
gnomAD v4
9g.133256077G>ACA200765418ABOn.683C>T
n.54-4925C>T
c.28+19085C>T (n.28+19085C>T)
n.665C>T
c.651C>T (p.Asp217=)
c.654C>T (p.Asp218=)
dbSNP gnomAD v2 gnomAD v4
9g.133256077G>CCA375685751ABOn.683C>G
n.54-4925C>G
c.28+19085C>G (n.28+19085C>G)
n.665C>G
c.651C>G (p.Asp217Glu)
c.654C>G (p.Asp218Glu)
9g.133256077G=CA1882580285ABOn.683C=
n.54-4925C=
c.28+19085C= (n.28+19085C=)
n.665C=
c.651C= (p.Asp217=)
c.654C= (p.Asp218=)
9g.133256077G>TCA375685749ABOn.683C>A
n.54-4925C>A
c.28+19085C>A (n.28+19085C>A)
n.665C>A
c.651C>A (p.Asp217Glu)
c.654C>A (p.Asp218Glu)
gnomAD v4
9g.133256078T>ACA5305774ABOn.682A>T
n.54-4926A>T
c.28+19084A>T (n.28+19084A>T)
n.664A>T
c.650A>T (p.Asp217Val)
c.653A>T (p.Asp218Val)
dbSNP ExAC gnomAD v4
9g.133256078T>CCA375685755ABOn.682A>G
n.54-4926A>G
c.28+19084A>G (n.28+19084A>G)
n.664A>G
c.650A>G (p.Asp217Gly)
c.653A>G (p.Asp218Gly)
dbSNP gnomAD v2 gnomAD v4
9g.133256078T>GCA375685754ABOn.682A>C
n.54-4926A>C
c.28+19084A>C (n.28+19084A>C)
n.664A>C
c.650A>C (p.Asp217Ala)
c.653A>C (p.Asp218Ala)
9g.133256078T=CA1882580286ABOn.682A=
n.54-4926A=
c.28+19084A= (n.28+19084A=)
n.664A=
c.650A= (p.Asp217=)
c.653A= (p.Asp218=)
9g.133256079C>ACA375685756ABOn.681G>T
n.54-4927G>T
c.28+19083G>T (n.28+19083G>T)
n.663G>T
c.649G>T (p.Asp217Tyr)
c.652G>T (p.Asp218Tyr)
gnomAD v4
9g.133256079C=CA1882580288ABOn.681G=
n.54-4927G=
c.28+19083G= (n.28+19083G=)
n.663G=
c.649G= (p.Asp217=)
c.652G= (p.Asp218=)
9g.133256079C>GCA375685758ABOn.681G>C
n.54-4927G>C
c.28+19083G>C (n.28+19083G>C)
n.663G>C
c.649G>C (p.Asp217His)
c.652G>C (p.Asp218His)
9g.133256079C>TCA5305775ABOn.681G>A
n.54-4927G>A
c.28+19083G>A (n.28+19083G>A)
n.663G>A
c.649G>A (p.Asp217Asn)
c.652G>A (p.Asp218Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.133256080G>ACA5305776ABOn.680C>T
n.54-4928C>T
c.28+19082C>T (n.28+19082C>T)
n.662C>T
c.648C>T (p.Arg216=)
c.651C>T (p.Arg217=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.133256080G>CCA467852994ABOn.680C>G
n.54-4928C>G
c.28+19082C>G (n.28+19082C>G)
n.662C>G
c.648C>G (p.Arg216=)
c.651C>G (p.Arg217=)
9g.133256080G=CA1882580289ABOn.680C=
n.54-4928C=
c.28+19082C= (n.28+19082C=)
n.662C=
c.648C= (p.Arg216=)
c.651C= (p.Arg217=)
9g.133256080G>TCA467852996ABOn.680C>A
n.54-4928C>A
c.28+19082C>A (n.28+19082C>A)
n.662C>A
c.648C>A (p.Arg216=)
c.651C>A (p.Arg217=)
9g.133256081C>ACA375685762ABOn.679G>T
n.54-4929G>T
c.28+19081G>T (n.28+19081G>T)
n.661G>T
c.647G>T (p.Arg216Leu)
c.650G>T (p.Arg217Leu)
gnomAD v4
9g.133256081C=CA1882580291ABOn.679G=
n.54-4929G=
c.28+19081G= (n.28+19081G=)
n.661G=
c.647G= (p.Arg216=)
c.650G= (p.Arg217=)
9g.133256081C>GCA375685764ABOn.679G>C
n.54-4929G>C
c.28+19081G>C (n.28+19081G>C)
n.661G>C
c.647G>C (p.Arg216Pro)
c.650G>C (p.Arg217Pro)
gnomAD v4
9g.133256081C>TCA5305777ABOn.679G>A
n.54-4929G>A
c.28+19081G>A (n.28+19081G>A)
n.661G>A
c.647G>A (p.Arg216His)
c.650G>A (p.Arg217His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.133256082G>ACA5305778ABOn.678C>T
n.54-4930C>T
c.28+19080C>T (n.28+19080C>T)
n.660C>T
c.646C>T (p.Arg216Cys)
c.649C>T (p.Arg217Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.133256082G>CCA375685769ABOn.678C>G
n.54-4930C>G
c.28+19080C>G (n.28+19080C>G)
n.660C>G
c.646C>G (p.Arg216Gly)
c.649C>G (p.Arg217Gly)
9g.133256082G=CA1882580292ABOn.678C=
n.54-4930C=
c.28+19080C= (n.28+19080C=)
n.660C=
c.646C= (p.Arg216=)
c.649C= (p.Arg217=)
9g.133256082G>TCA375685771ABOn.678C>A
n.54-4930C>A
c.28+19080C>A (n.28+19080C>A)
n.660C>A
c.646C>A (p.Arg216Ser)
c.649C>A (p.Arg217Ser)
gnomAD v4
9g.133256083G>ACA467852998ABOn.677C>T
n.54-4931C>T
c.28+19079C>T (n.28+19079C>T)
n.659C>T
c.645C>T (p.Phe215=)
c.648C>T (p.Phe216=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.133256083G>CCA375685774ABOn.677C>G
n.54-4931C>G
c.28+19079C>G (n.28+19079C>G)
n.659C>G
c.645C>G (p.Phe215Leu)
c.648C>G (p.Phe216Leu)
gnomAD v4
9g.133256083G=CA1882580294ABOn.677C=
n.54-4931C=
c.28+19079C= (n.28+19079C=)
n.659C=
c.645C= (p.Phe215=)
c.648C= (p.Phe216=)
9g.133256083G>TCA375685775ABOn.677C>A
n.54-4931C>A
c.28+19079C>A (n.28+19079C>A)
n.659C>A
c.645C>A (p.Phe215Leu)
c.648C>A (p.Phe216Leu)
gnomAD v4
9g.133256084A>CCA375685776ABOn.676T>G
n.54-4932T>G
c.28+19078T>G (n.28+19078T>G)
n.658T>G
c.644T>G (p.Phe215Cys)
c.647T>G (p.Phe216Cys)
9g.133256084A>GCA375685779ABOn.676T>C
n.54-4932T>C
c.28+19078T>C (n.28+19078T>C)
n.658T>C
c.644T>C (p.Phe215Ser)
c.647T>C (p.Phe216Ser)
9g.133256084A>TCA375685780ABOn.676T>A
n.54-4932T>A
c.28+19078T>A (n.28+19078T>A)
n.658T>A
c.644T>A (p.Phe215Tyr)
c.647T>A (p.Phe216Tyr)
9g.133256085A=CA1630848042ABOn.675T=
n.54-4933T=
c.28+19077T= (n.28+19077T=)
n.657T=
c.643T= (p.Phe215=)
c.646T= (p.Phe216=)
9g.133256085A>CCA375685781ABOn.675T>G
n.54-4933T>G
c.28+19077T>G (n.28+19077T>G)
n.657T>G
c.643T>G (p.Phe215Val)
c.646T>G (p.Phe216Val)
dbSNP
9g.133256085A>GCA375685782ABOn.675T>C
n.54-4933T>C
c.28+19077T>C (n.28+19077T>C)
n.657T>C
c.643T>C (p.Phe215Leu)
c.646T>C (p.Phe216Leu)

Number of alleles fetched