Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27084901G>ACA1240109528EMILIN1c.2558-90G>A (n.2558-90G>A)
c.550-90G>A
dbSNP gnomAD v4
2g.27084901G>CCA11061185EMILIN1c.2558-90G>C (n.2558-90G>C)
c.550-90G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27084901G=CA1240109527EMILIN1c.2558-90G= (n.2558-90G=)
c.550-90G=
2g.27084901G>TCA1240109526EMILIN1c.2558-90G>T (n.2558-90G>T)
c.550-90G>T
dbSNP gnomAD v4
2g.27084902A>GCA2658282940EMILIN1c.2558-89A>G (n.2558-89A>G)
c.550-89A>G
gnomAD v4
2g.27084903G>TCA2658282943EMILIN1c.2558-88G>T (n.2558-88G>T)
c.550-88G>T
gnomAD v4
2g.27084904C>ACA2658282946EMILIN1c.2558-87C>A (n.2558-87C>A)
c.550-87C>A
gnomAD v4
2g.27084906C>ACA2658282948EMILIN1c.2558-85C>A (n.2558-85C>A)
c.550-85C>A
gnomAD v4
2g.27084906C>TCA2576702662EMILIN1c.2558-85C>T (n.2558-85C>T)
c.550-85C>T
2g.27084908A>GCA2658282950EMILIN1c.2558-83A>G (n.2558-83A>G)
c.550-83A>G
gnomAD v4
2g.27084909delCA2576702663EMILIN1c.2558-82del (n.2558-82del)
c.550-82del
2g.27084909C>ACA2658282952EMILIN1c.2558-82C>A (n.2558-82C>A)
c.550-82C>A
gnomAD v4
2g.27084909C=CA1240109529EMILIN1c.2558-82C= (n.2558-82C=)
c.550-82C=
2g.27084909C>GCA1240109530EMILIN1c.2558-82C>G (n.2558-82C>G)
c.550-82C>G
dbSNP
2g.27084909C>TCA2658282951EMILIN1c.2558-82C>T (n.2558-82C>T)
c.550-82C>T
gnomAD v4
2g.27084910A>GCA2658282956EMILIN1c.2558-81A>G (n.2558-81A>G)
c.550-81A>G
gnomAD v4
2g.27084912_27084914dupCA2658282953EMILIN1c.2558-79_2558-77dup (n.2558-79_2558-77dup)
c.550-79_550-77dup
gnomAD v4
2g.27084911G>ACA2576702664EMILIN1c.2558-80G>A (n.2558-80G>A)
c.550-80G>A
gnomAD v4
2g.27084911G>TCA2658282966EMILIN1c.2558-80G>T (n.2558-80G>T)
c.550-80G>T
gnomAD v4
2g.27084912G>ACA1240109532EMILIN1c.2558-79G>A (n.2558-79G>A)
c.550-79G>A
dbSNP gnomAD v4
2g.27084912G>CCA2658282967EMILIN1c.2558-79G>C (n.2558-79G>C)
c.550-79G>C
gnomAD v4
2g.27084912G=CA1240109531EMILIN1c.2558-79G= (n.2558-79G=)
c.550-79G=
2g.27084913A=CA1240109533EMILIN1c.2558-78A= (n.2558-78A=)
c.550-78A=
2g.27084913A>CCA1028653084EMILIN1c.2558-78A>C (n.2558-78A>C)
c.550-78A>C
dbSNP gnomAD v3 gnomAD v4
2g.27084914G>ACA531422395EMILIN1c.2558-77G>A (n.2558-77G>A)
c.550-77G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27084914G=CA1240109534EMILIN1c.2558-77G= (n.2558-77G=)
c.550-77G=
2g.27084914G>TCA2576702665EMILIN1c.2558-77G>T (n.2558-77G>T)
c.550-77G>T
gnomAD v4
2g.27084916G>ACA2658282974EMILIN1c.2558-75G>A (n.2558-75G>A)
c.550-75G>A
gnomAD v4
2g.27084916G>TCA2658282975EMILIN1c.2558-75G>T (n.2558-75G>T)
c.550-75G>T
gnomAD v4
2g.27084917C>ACA2576702666EMILIN1c.2558-74C>A (n.2558-74C>A)
c.550-74C>A
gnomAD v4
2g.27084918C>ACA2658282980EMILIN1c.2558-73C>A (n.2558-73C>A)
c.550-73C>A
gnomAD v4
2g.27084919T>CCA2576702667EMILIN1c.2558-72T>C (n.2558-72T>C)
c.550-72T>C
gnomAD v4
2g.27084919_27084922delinsTCAGCA1240109535EMILIN1c.2558-72_2558-69delinsTCAG (n.2558-72_2558-69delinsTCAG)
c.550-72_550-69delinsTCAG
2g.27084920C>ACA2658282988EMILIN1c.2558-71C>A (n.2558-71C>A)
c.550-71C>A
gnomAD v4
2g.27084923_27084925delCA1028653100EMILIN1c.2558-68_2558-66del (n.2558-68_2558-66del)
c.550-68_550-66del
dbSNP gnomAD v3 gnomAD v4
2g.27084921A=CA1240109536EMILIN1c.2558-70A= (n.2558-70A=)
c.550-70A=
2g.27084921A>CCA44468530EMILIN1c.2558-70A>C (n.2558-70A>C)
c.550-70A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27084922G>ACA1240109538EMILIN1c.2558-69G>A (n.2558-69G>A)
c.550-69G>A
dbSNP
2g.27084922G=CA1240109537EMILIN1c.2558-69G= (n.2558-69G=)
c.550-69G=
2g.27084923C>ACA2576702668EMILIN1c.2558-68C>A (n.2558-68C>A)
c.550-68C>A
gnomAD v4
2g.27084924A=CA1240109539EMILIN1c.2558-67A= (n.2558-67A=)
c.550-67A=
2g.27084924A>GCA1240109540EMILIN1c.2558-67A>G (n.2558-67A>G)
c.550-67A>G
dbSNP
2g.27084925G>CCA767343487EMILIN1c.2558-66G>C (n.2558-66G>C)
c.550-66G>C
dbSNP gnomAD v4
2g.27084925G=CA1240109541EMILIN1c.2558-66G= (n.2558-66G=)
c.550-66G=
2g.27084926A=CA1240109542EMILIN1c.2558-65A= (n.2558-65A=)
c.550-65A=
2g.27084926A>TCA1240109543EMILIN1c.2558-65A>T (n.2558-65A>T)
c.550-65A>T
dbSNP
2g.27084927T>ACA767343488EMILIN1c.2558-64T>A (n.2558-64T>A)
c.550-64T>A
dbSNP gnomAD v3 gnomAD v4
2g.27084927T>CCA2658283001EMILIN1c.2558-64T>C (n.2558-64T>C)
c.550-64T>C
gnomAD v4
2g.27084927T>GCA2658283003EMILIN1c.2558-64T>G (n.2558-64T>G)
c.550-64T>G
gnomAD v4
2g.27084927T=CA1240109544EMILIN1c.2558-64T= (n.2558-64T=)
c.550-64T=

Number of alleles fetched