Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27084844T>CCA2658282644EMILIN1c.2558-147T>C (n.2558-147T>C)
c.550-147T>C
 gnomAD v4
2g.27084845A>TCA2658282648EMILIN1c.2558-146A>T (n.2558-146A>T)
c.550-146A>T
 gnomAD v4
2g.27084846C>ACA2658282651EMILIN1c.2558-145C>A (n.2558-145C>A)
c.550-145C>A
 gnomAD v4
2g.27084846C>TCA2658282654EMILIN1c.2558-145C>T (n.2558-145C>T)
c.550-145C>T
 gnomAD v4
2g.27084847C>ACA1028653003EMILIN1c.2558-144C>A (n.2558-144C>A)
c.550-144C>A
 dbSNP gnomAD v3 gnomAD v4
2g.27084847C=CA1240109502EMILIN1c.2558-144C= (n.2558-144C=)
c.550-144C=
2g.27084847C>GCA2658282716EMILIN1c.2558-144C>G (n.2558-144C>G)
c.550-144C>G
 gnomAD v4
2g.27084847C>TCA1240109501EMILIN1c.2558-144C>T (n.2558-144C>T)
c.550-144C>T
 dbSNP
2g.27084848_27084849delinsTACA1240109503EMILIN1c.2558-143_2558-142delinsTA (n.2558-143_2558-142delinsTA)
c.550-143_550-142delinsTA
2g.27084849delCA767343440EMILIN1c.2558-142del (n.2558-142del)
c.550-142del
 dbSNP gnomAD v3 gnomAD v4
2g.27084849A=CA1240109504EMILIN1c.2558-142A= (n.2558-142A=)
c.550-142A=
2g.27084849A>CCA2658282724EMILIN1c.2558-142A>C (n.2558-142A>C)
c.550-142A>C
 gnomAD v4
2g.27084849A>GCA531422393EMILIN1c.2558-142A>G (n.2558-142A>G)
c.550-142A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27084850T>GCA2658282727EMILIN1c.2558-141T>G (n.2558-141T>G)
c.550-141T>G
 gnomAD v4
2g.27084852C>TCA2658282729EMILIN1c.2558-139C>T (n.2558-139C>T)
c.550-139C>T
 gnomAD v4
2g.27084853C>ACA2658282730EMILIN1c.2558-138C>A (n.2558-138C>A)
c.550-138C>A
 gnomAD v4
2g.27084854T>CCA44468521EMILIN1c.2558-137T>C (n.2558-137T>C)
c.550-137T>C
 dbSNP gnomAD v3 gnomAD v4
2g.27084854T=CA1240109505EMILIN1c.2558-137T= (n.2558-137T=)
c.550-137T=
2g.27084855G>ACA44468522EMILIN1c.2558-136G>A (n.2558-136G>A)
c.550-136G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27084855G=CA1240109506EMILIN1c.2558-136G= (n.2558-136G=)
c.550-136G=
2g.27084860_27084861insTTTTTTTCA2658282742EMILIN1c.2558-131_2558-130insTTTTTTT (n.2558-131_2558-130insTTTTTTT)
c.550-131_550-130insTTTTTTT
 gnomAD v4
2g.27084860delCA2658282745EMILIN1c.2558-131del (n.2558-131del)
c.550-131del
 gnomAD v4
2g.27084857T>GCA2658282747EMILIN1c.2558-134T>G (n.2558-134T>G)
c.550-134T>G
 gnomAD v4
2g.27084859T>CCA2658282749EMILIN1c.2558-132T>C (n.2558-132T>C)
c.550-132T>C
 gnomAD v4
2g.27084860T>ACA2658282754EMILIN1c.2558-131T>A (n.2558-131T>A)
c.550-131T>A
 gnomAD v4
2g.27084860T>CCA767343446EMILIN1c.2558-131T>C (n.2558-131T>C)
c.550-131T>C
 dbSNP gnomAD v3 gnomAD v4
2g.27084860T=CA1240109507EMILIN1c.2558-131T= (n.2558-131T=)
c.550-131T=
2g.27084861C>ACA2658282757EMILIN1c.2558-130C>A (n.2558-130C>A)
c.550-130C>A
 gnomAD v4
2g.27084861C>TCA2658282760EMILIN1c.2558-130C>T (n.2558-130C>T)
c.550-130C>T
 gnomAD v4
2g.27084862T>CCA2658282763EMILIN1c.2558-129T>C (n.2558-129T>C)
c.550-129T>C
 gnomAD v4
2g.27084863T>CCA44468523EMILIN1c.2558-128T>C (n.2558-128T>C)
c.550-128T>C
 dbSNP gnomAD v3 gnomAD v4
2g.27084863T=CA1240109508EMILIN1c.2558-128T= (n.2558-128T=)
c.550-128T=
2g.27084864G>TCA2658282771EMILIN1c.2558-127G>T (n.2558-127G>T)
c.550-127G>T
 gnomAD v4
2g.27084865A=CA1240109509EMILIN1c.2558-126A= (n.2558-126A=)
c.550-126A=
2g.27084865A>GCA44468524EMILIN1c.2558-126A>G (n.2558-126A>G)
c.550-126A>G
 dbSNP gnomAD v3 gnomAD v4
2g.27084865A>TCA2658282776EMILIN1c.2558-126A>T (n.2558-126A>T)
c.550-126A>T
 gnomAD v4
2g.27084866T>CCA1240109511EMILIN1c.2558-125T>C (n.2558-125T>C)
c.550-125T>C
 dbSNP gnomAD v4
2g.27084866T=CA1240109510EMILIN1c.2558-125T= (n.2558-125T=)
c.550-125T=
2g.27084867A>TCA2658282781EMILIN1c.2558-124A>T (n.2558-124A>T)
c.550-124A>T
 gnomAD v4
2g.27084868C>ACA2658282788EMILIN1c.2558-123C>A (n.2558-123C>A)
c.550-123C>A
 gnomAD v4
2g.27084868C>TCA2658282791EMILIN1c.2558-123C>T (n.2558-123C>T)
c.550-123C>T
 gnomAD v4
2g.27084871delCA2658282784EMILIN1c.2558-120del (n.2558-120del)
c.550-120del
 gnomAD v4
2g.27084869C>ACA2658282793EMILIN1c.2558-122C>A (n.2558-122C>A)
c.550-122C>A
 gnomAD v4
2g.27084869C>TCA2658282796EMILIN1c.2558-122C>T (n.2558-122C>T)
c.550-122C>T
 gnomAD v4
2g.27084870C>ACA2658282798EMILIN1c.2558-121C>A (n.2558-121C>A)
c.550-121C>A
 gnomAD v4
2g.27084871C>ACA44468526EMILIN1c.2558-120C>A (n.2558-120C>A)
c.550-120C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27084871C=CA1240109512EMILIN1c.2558-120C= (n.2558-120C=)
c.550-120C=
2g.27084871C>GCA2658282802EMILIN1c.2558-120C>G (n.2558-120C>G)
c.550-120C>G
 gnomAD v4
2g.27084871C>TCA2658282807EMILIN1c.2558-120C>T (n.2558-120C>T)
c.550-120C>T
 gnomAD v4
2g.27084873A=CA1240109513EMILIN1c.2558-118A= (n.2558-118A=)
c.550-118A=

Number of alleles fetched