Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.76983542C>ACA371556907PEX2c.637G>T (p.Val213Phe)
8g.76983542C>GCA371556908PEX2c.637G>C (p.Val213Leu)
8g.76983542C>TCA371556906PEX2c.637G>A (p.Val213Ile)
8g.76983543A=CA1795351131PEX2c.636T= (p.Asn212=)
8g.76983543A>CCA371556909PEX2c.636T>G (p.Asn212Lys)
8g.76983543A>GCA4788674PEX2c.636T>C (p.Asn212=)
dbSNP ExAC gnomAD v2
8g.76983543A>TCA371556910PEX2c.636T>A (p.Asn212Lys)
8g.76983545_76983548delCA2687718861PEX2c.633_636del (p.Ile211MetfsTer5)
gnomAD v4
8g.76983544T>ACA371556911PEX2c.635A>T (p.Asn212Ile)
8g.76983544T>CCA4788675PEX2c.635A>G (p.Asn212Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.76983544T>GCA371556912PEX2c.635A>C (p.Asn212Thr)
8g.76983544T=CA1795351136PEX2c.635A= (p.Asn212=)
8g.76983545T>ACA371556913PEX2c.634A>T (p.Asn212Tyr)
8g.76983545T>CCA371556915PEX2c.634A>G (p.Asn212Asp)
8g.76983545T>GCA371556914PEX2c.634A>C (p.Asn212His)
8g.76983546G>ACA461773307PEX2c.633C>T (p.Ile211=)
COSMIC
8g.76983546G>CCA371556916PEX2c.633C>G (p.Ile211Met)
8g.76983546G>TCA461773306PEX2c.633C>A (p.Ile211=)
8g.76983547A=CA1795351139PEX2c.632T= (p.Ile211=)
8g.76983547A>CCA371556917PEX2c.632T>G (p.Ile211Ser)
8g.76983547A>GCA4788676PEX2c.632T>C (p.Ile211Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76983547A>TCA371556918PEX2c.632T>A (p.Ile211Asn)
8g.76983548T>ACA371556920PEX2c.631A>T (p.Ile211Phe)
8g.76983548T>CCA371556919PEX2c.631A>G (p.Ile211Val)
COSMIC
8g.76983548T>GCA179988259PEX2c.631A>C (p.Ile211Leu)
ClinVar dbSNP gnomAD v4
8g.76983548T=CA1795351142PEX2c.631A= (p.Ile211=)
8g.76983548dupCA2687718862PEX2c.631dup (p.Ile211AsnfsTer22)
gnomAD v4
8g.76983548_76983553dupCA2687718863PEX2c.626_631dup (p.Leu210_Ile211insThrLeu)
gnomAD v4
8g.76983549A=CA1795351146PEX2c.630T= (p.Leu210=)
8g.76983549A>CCA461773309PEX2c.630T>G (p.Leu210=)
8g.76983549A>GCA4788677PEX2c.630T>C (p.Leu210=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76983549A>TCA461773310PEX2c.630T>A (p.Leu210=)
8g.76983550A>CCA371556922PEX2c.629T>G (p.Leu210Arg)
8g.76983550A>GCA371556921PEX2c.629T>C (p.Leu210Pro)
8g.76983550A>TCA371556923PEX2c.629T>A (p.Leu210His)
8g.76983551G>ACA371556924PEX2c.628C>T (p.Leu210Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.76983551G>CCA371556925PEX2c.628C>G (p.Leu210Val)
8g.76983551G=CA1795351150PEX2c.628C= (p.Leu210=)
8g.76983551G>TCA371556926PEX2c.628C>A (p.Leu210Ile)
8g.76983552T>ACA461773311PEX2c.627A>T (p.Pro209=)
8g.76983552T>CCA461773312PEX2c.627A>G (p.Pro209=)
dbSNP
8g.76983552T>GCA461773313PEX2c.627A>C (p.Pro209=)
8g.76983552T=CA1795351155PEX2c.627A= (p.Pro209=)
8g.76983553G>ACA371556927PEX2c.626C>T (p.Pro209Leu)
gnomAD v4
8g.76983553G>CCA371556928PEX2c.626C>G (p.Pro209Arg)
8g.76983553G>TCA371556929PEX2c.626C>A (p.Pro209Gln)
8g.76983554G>ACA371556930PEX2c.625C>T (p.Pro209Ser)
dbSNP gnomAD v2 gnomAD v4
8g.76983554G>CCA371556931PEX2c.625C>G (p.Pro209Ala)
gnomAD v4
8g.76983554G=CA1795351158PEX2c.625C= (p.Pro209=)
8g.76983554G>TCA371556932PEX2c.625C>A (p.Pro209Thr)
gnomAD v4

Number of alleles fetched