Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94383134_94383151del | CA2626310192 | SERPINA1 | c.91_108del (p.Ala31_Asp36del) c.-23-145_-23-128del (n.-23-145_-23-128del) | gnomAD v4 |
14 | g.94383137T>A | CA390850784 | SERPINA1 | c.101A>T (p.Lys34Met) c.-23-135A>T (n.-23-135A>T) | |
14 | g.94383137T>C | CA390850785 | SERPINA1 | c.101A>G (p.Lys34Arg) c.-23-135A>G (n.-23-135A>G) | |
14 | g.94383137T>G | CA390850786 | SERPINA1 | c.101A>C (p.Lys34Thr) c.-23-135A>C (n.-23-135A>C) | |
14 | g.94383138T>A | CA390850788 | SERPINA1 | c.100A>T (p.Lys34Ter) c.-23-136A>T (n.-23-136A>T) | |
14 | g.94383138T>C | CA390850787 | SERPINA1 | c.100A>G (p.Lys34Glu) c.-23-136A>G (n.-23-136A>G) | |
14 | g.94383138T>G | CA7327547 | SERPINA1 | c.100A>C (p.Lys34Gln) c.-23-136A>C (n.-23-136A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94383138T= | CA2155954960 | SERPINA1 | c.100A= (p.Lys34=) c.-23-136A= (n.-23-136A=) | |
14 | g.94383139C>A | CA390850789 | SERPINA1 | c.99G>T (p.Gln33His) c.-23-137G>T (n.-23-137G>T) | |
14 | g.94383139C= | CA2155954961 | SERPINA1 | c.99G= (p.Gln33=) c.-23-137G= (n.-23-137G=) | |
14 | g.94383139C>G | CA390850790 | SERPINA1 | c.99G>C (p.Gln33His) c.-23-137G>C (n.-23-137G>C) | |
14 | g.94383139C>T | CA487841350 | SERPINA1 | c.99G>A (p.Gln33=) c.-23-137G>A (n.-23-137G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94383140T>A | CA390850791 | SERPINA1 | c.98A>T (p.Gln33Leu) c.-23-138A>T (n.-23-138A>T) | |
14 | g.94383140T>C | CA390850792 | SERPINA1 | c.98A>G (p.Gln33Arg) c.-23-138A>G (n.-23-138A>G) | |
14 | g.94383140T>G | CA390850793 | SERPINA1 | c.98A>C (p.Gln33Pro) c.-23-138A>C (n.-23-138A>C) | |
14 | g.94383141G>A | CA390850796 | SERPINA1 | c.97C>T (p.Gln33Ter) c.-23-139C>T (n.-23-139C>T) | |
14 | g.94383141G>C | CA390850795 | SERPINA1 | c.97C>G (p.Gln33Glu) c.-23-139C>G (n.-23-139C>G) | |
14 | g.94383141G>T | CA390850794 | SERPINA1 | c.97C>A (p.Gln33Lys) c.-23-139C>A (n.-23-139C>A) | |
14 | g.94383142G>A | CA487841355 | SERPINA1 | c.96C>T (p.Ala32=) c.-23-140C>T (n.-23-140C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94383142G>C | CA487841356 | SERPINA1 | c.96C>G (p.Ala32=) c.-23-140C>G (n.-23-140C>G) | |
14 | g.94383142G= | CA2155954962 | SERPINA1 | c.96C= (p.Ala32=) c.-23-140C= (n.-23-140C=) | |
14 | g.94383142G>T | CA487841357 | SERPINA1 | c.96C>A (p.Ala32=) c.-23-140C>A (n.-23-140C>A) | |
14 | g.94383143G>A | CA390850797 | SERPINA1 | c.95C>T (p.Ala32Val) c.-23-141C>T (n.-23-141C>T) | |
14 | g.94383143G>C | CA390850799 | SERPINA1 | c.95C>G (p.Ala32Gly) c.-23-141C>G (n.-23-141C>G) | |
14 | g.94383143G>T | CA390850798 | SERPINA1 | c.95C>A (p.Ala32Asp) c.-23-141C>A (n.-23-141C>A) | |
14 | g.94383144C>A | CA390850800 | SERPINA1 | c.94G>T (p.Ala32Ser) c.-23-142G>T (n.-23-142G>T) | |
14 | g.94383144C>G | CA390850801 | SERPINA1 | c.94G>C (p.Ala32Pro) c.-23-142G>C (n.-23-142G>C) | |
14 | g.94383144C>T | CA390850802 | SERPINA1 | c.94G>A (p.Ala32Thr) c.-23-142G>A (n.-23-142G>A) | |
14 | g.94383145A>C | CA487841358 | SERPINA1 | c.93T>G (p.Ala31=) c.-23-143T>G (n.-23-143T>G) | |
14 | g.94383145A>G | CA487841360 | SERPINA1 | c.93T>C (p.Ala31=) c.-23-143T>C (n.-23-143T>C) | |
14 | g.94383145A>T | CA487841361 | SERPINA1 | c.93T>A (p.Ala31=) c.-23-143T>A (n.-23-143T>A) | |
14 | g.94383146G>A | CA390850803 | SERPINA1 | c.92C>T (p.Ala31Val) c.-23-144C>T (n.-23-144C>T) | |
14 | g.94383146G>C | CA390850804 | SERPINA1 | c.92C>G (p.Ala31Gly) c.-23-144C>G (n.-23-144C>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94383146G= | CA2155954963 | SERPINA1 | c.92C= (p.Ala31=) c.-23-144C= (n.-23-144C=) | |
14 | g.94383146G>T | CA390850805 | SERPINA1 | c.92C>A (p.Ala31Asp) c.-23-144C>A (n.-23-144C>A) | gnomAD v4 |
14 | g.94383147C>A | CA390850806 | SERPINA1 | c.91G>T (p.Ala31Ser) c.-23-145G>T (n.-23-145G>T) | |
14 | g.94383147C= | CA2155954964 | SERPINA1 | c.91G= (p.Ala31=) c.-23-145G= (n.-23-145G=) | |
14 | g.94383147C>G | CA390850807 | SERPINA1 | c.91G>C (p.Ala31Pro) c.-23-145G>C (n.-23-145G>C) | dbSNP |
14 | g.94383147C>T | CA390850808 | SERPINA1 | c.91G>A (p.Ala31Thr) c.-23-145G>A (n.-23-145G>A) | |
14 | g.94383148A>C | CA390850809 | SERPINA1 | c.90T>G (p.Asp30Glu) c.-23-146T>G (n.-23-146T>G) | |
14 | g.94383148A>G | CA487841365 | SERPINA1 | c.90T>C (p.Asp30=) c.-23-146T>C (n.-23-146T>C) | gnomAD v4 |
14 | g.94383148A>T | CA390850810 | SERPINA1 | c.90T>A (p.Asp30Glu) c.-23-146T>A (n.-23-146T>A) | |
14 | g.94383149T>A | CA348584 | SERPINA1 | c.89A>T (p.Asp30Val) c.-23-147A>T (n.-23-147A>T) | ClinVar dbSNP gnomAD v4 |
14 | g.94383149T>C | CA390850812 | SERPINA1 | c.89A>G (p.Asp30Gly) c.-23-147A>G (n.-23-147A>G) | |
14 | g.94383149T>G | CA390850811 | SERPINA1 | c.89A>C (p.Asp30Ala) c.-23-147A>C (n.-23-147A>C) | |
14 | g.94383149T= | CA2155954965 | SERPINA1 | c.89A= (p.Asp30=) c.-23-147A= (n.-23-147A=) | |
14 | g.94383150C>A | CA390850813 | SERPINA1 | c.88G>T (p.Asp30Tyr) c.-23-148G>T (n.-23-148G>T) | |
14 | g.94383150C= | CA2155954966 | SERPINA1 | c.88G= (p.Asp30=) c.-23-148G= (n.-23-148G=) | |
14 | g.94383150C>G | CA390850814 | SERPINA1 | c.88G>C (p.Asp30His) c.-23-148G>C (n.-23-148G>C) | |
14 | g.94383150C>T | CA390850815 | SERPINA1 | c.88G>A (p.Asp30Asn) c.-23-148G>A (n.-23-148G>A) | dbSNP gnomAD v2 |