Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45997702_45997703delinsTGCA2392438146COL6A1n.239_240delinsTG
c.1464_1465delinsTG (p.Gly488=)
21g.45997703delCA257739COL6A1n.240del
c.1465del (p.Ala489ProfsTer16)
 ClinVar dbSNP
21g.45997703G>ACA410528641COL6A1n.240G>A
c.1465G>A (p.Ala489Thr)
 dbSNP gnomAD v2 gnomAD v4
21g.45997703G>CCA410528645COL6A1n.240G>C
c.1465G>C (p.Ala489Pro)
21g.45997703G=CA2392438147COL6A1n.240G=
c.1465G= (p.Ala489=)
21g.45997703G>TCA410528647COL6A1n.240G>T
c.1465G>T (p.Ala489Ser)
 gnomAD v4
21g.45997704C>ACA410528650COL6A1n.241C>A
c.1466C>A (p.Ala489Asp)
 gnomAD v4
21g.45997704C>GCA410528652COL6A1n.241C>G
c.1466C>G (p.Ala489Gly)
21g.45997704C>TCA410528655COL6A1n.241C>T
c.1466C>T (p.Ala489Val)
 gnomAD v4
21g.45997705C>ACA512717315COL6A1n.242C>A
c.1467C>A (p.Ala489=)
 dbSNP gnomAD v2 gnomAD v4
21g.45997705C=CA2392438148COL6A1n.242C=
c.1467C= (p.Ala489=)
21g.45997705C>GCA512717316COL6A1n.242C>G
c.1467C>G (p.Ala489=)
21g.45997705C>TCA10070347COL6A1n.242C>T
c.1467C>T (p.Ala489=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45997706A=CA2392438149COL6A1n.243A=
c.1468A= (p.Arg490=)
21g.45997706A>CCA512717317COL6A1n.243A>C
c.1468A>C (p.Arg490=)
21g.45997706A>GCA410528658COL6A1n.243A>G
c.1468A>G (p.Arg490Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45997706A>TCA410528660COL6A1n.243A>T
c.1468A>T (p.Arg490Ter)
21g.45997707G>ACA410528663COL6A1n.244G>A
c.1469G>A (p.Arg490Lys)
 gnomAD v4
21g.45997707G>CCA410528668COL6A1n.244G>C
c.1469G>C (p.Arg490Thr)
21g.45997707G>TCA410528670COL6A1n.244G>T
c.1469G>T (p.Arg490Ile)
 gnomAD v4
21g.45997708A=CA2392438150COL6A1n.245A=
c.1470A= (p.Arg490=)
21g.45997708A>CCA10070348COL6A1n.245A>C
c.1470A>C (p.Arg490Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45997708A>GCA512717318COL6A1n.245A>G
c.1470A>G (p.Arg490=)
 gnomAD v4
21g.45997708A>TCA410528673COL6A1n.245A>T
c.1470A>T (p.Arg490Ser)
21g.45997709G>ACA410528677COL6A1n.246G>A
c.1471G>A (p.Gly491Arg)
 gnomAD v4
21g.45997709G>CCA410528681COL6A1n.246G>C
c.1471G>C (p.Gly491Arg)
21g.45997709G>TCA410528679COL6A1n.246G>T
c.1471G>T (p.Gly491Ter)
 gnomAD v4
21g.45997710G>ACA410528683COL6A1n.247G>A
c.1472G>A (p.Gly491Glu)
21g.45997710G>CCA410528685COL6A1n.247G>C
c.1472G>C (p.Gly491Ala)
21g.45997710G>TCA410528688COL6A1n.247G>T
c.1472G>T (p.Gly491Val)
 gnomAD v4
21g.45997711A>CCA512717321COL6A1n.248A>C
c.1473A>C (p.Gly491=)
21g.45997711A>GCA512717319COL6A1n.248A>G
c.1473A>G (p.Gly491=)
21g.45997711A>TCA512717320COL6A1n.248A>T
c.1473A>T (p.Gly491=)
21g.45997712G>ACA410528689COL6A1n.249G>A
c.1474G>A (p.Ala492Thr)
 gnomAD v4
21g.45997712G>CCA410528691COL6A1n.249G>C
c.1474G>C (p.Ala492Pro)
21g.45997712G>TCA410528693COL6A1n.249G>T
c.1474G>T (p.Ala492Ser)
 gnomAD v4
21g.45997713C>ACA410528695COL6A1n.250C>A
c.1475C>A (p.Ala492Asp)
 ClinVar dbSNP gnomAD v4
21g.45997713C=CA2392438151COL6A1n.250C=
c.1475C= (p.Ala492=)
21g.45997713C>GCA410528698COL6A1n.250C>G
c.1475C>G (p.Ala492Gly)
 gnomAD v4
21g.45997713C>TCA10070349COL6A1n.250C>T
c.1475C>T (p.Ala492Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45997716delCA2654960040COL6A1n.253del
c.1478del (p.Pro493GlnfsTer12)
 gnomAD v4
21g.45997714C>ACA512717322COL6A1n.251C>A
c.1476C>A (p.Ala492=)
21g.45997714C>GCA512717323COL6A1n.251C>G
c.1476C>G (p.Ala492=)
21g.45997714C>TCA512717324COL6A1n.251C>T
c.1476C>T (p.Ala492=)
 gnomAD v4
21g.45997715C>ACA10070350COL6A1n.252C>A
c.1477C>A (p.Pro493Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45997715C=CA2392438152COL6A1n.252C=
c.1477C= (p.Pro493=)
21g.45997715C>GCA410528701COL6A1n.252C>G
c.1477C>G (p.Pro493Ala)
21g.45997715C>TCA410528700COL6A1n.252C>T
c.1477C>T (p.Pro493Ser)
 gnomAD v4 COSMIC
21g.45997716C>ACA410528705COL6A1n.253C>A
c.1478C>A (p.Pro493Gln)
 gnomAD v4
21g.45997716C=CA2392438153COL6A1n.253C=
c.1478C= (p.Pro493=)

Number of alleles fetched