14 | g.94382564A= | CA2155954679 | SERPINA1 | c.646+28T= (n.646+28T=)
| |
14 | g.94382564A>G | CA2155954680 | SERPINA1 | c.646+28T>C (n.646+28T>C)
| dbSNP gnomAD v4 |
14 | g.94382565C>G | CA2626309832 | SERPINA1 | c.646+27G>C (n.646+27G>C)
| gnomAD v4 |
14 | g.94382566A>T | CA2626309833 | SERPINA1 | c.646+26T>A (n.646+26T>A)
| gnomAD v4 |
14 | g.94382573G>A | CA265864086 | SERPINA1 | c.646+19C>T (n.646+19C>T)
| dbSNP gnomAD v4 |
14 | g.94382573G>C | CA265864087 | SERPINA1 | c.646+19C>G (n.646+19C>G)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382573G= | CA2155954681 | SERPINA1 | c.646+19C= (n.646+19C=)
| |
14 | g.94382574C= | CA2155954682 | SERPINA1 | c.646+18G= (n.646+18G=)
| |
14 | g.94382574C>G | CA2626309836 | SERPINA1 | c.646+18G>C (n.646+18G>C)
| ClinVar gnomAD v4 |
14 | g.94382574C>T | CA615831423 | SERPINA1 | c.646+18G>A (n.646+18G>A)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382575_94382576delinsTG | CA2155954683 | SERPINA1 | c.646+16_646+17delinsCA (n.646+16_646+17delinsCA)
| |
14 | g.94382576G>A | CA2626309839 | SERPINA1 | c.646+16C>T (n.646+16C>T)
| ClinVar gnomAD v4 |
14 | g.94382577del | CA7327447 | SERPINA1 | c.646+16del (n.646+16del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382577G>A | CA2739278059 | SERPINA1 | c.646+15C>T (n.646+15C>T)
| ClinVar |
14 | g.94382577G= | CA2155954684 | SERPINA1 | c.646+15C= (n.646+15C=)
| |
14 | g.94382577G>T | CA7327448 | SERPINA1 | c.646+15C>A (n.646+15C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382578T>C | CA2626309840 | SERPINA1 | c.646+14A>G (n.646+14A>G)
| gnomAD v4 |
14 | g.94382580G>T | CA2575614285 | SERPINA1 | c.646+12C>A (n.646+12C>A)
| gnomAD v4 |
14 | g.94382581A= | CA2155954685 | SERPINA1 | c.646+11T= (n.646+11T=)
| |
14 | g.94382581A>G | CA7327449 | SERPINA1 | c.646+11T>C (n.646+11T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382582G>A | CA2155954687 | SERPINA1 | c.646+10C>T (n.646+10C>T)
| dbSNP |
14 | g.94382582G= | CA2155954686 | SERPINA1 | c.646+10C= (n.646+10C=)
| |
14 | g.94382583C>T | CA2529310677 | SERPINA1 | c.646+9G>A (n.646+9G>A)
| gnomAD v4 |
14 | g.94382584A= | CA2155954688 | SERPINA1 | c.646+8T= (n.646+8T=)
| |
14 | g.94382584A>T | CA7327450 | SERPINA1 | c.646+8T>A (n.646+8T>A)
| dbSNP ExAC gnomAD v2 |
14 | g.94382585A= | CA2155954690 | SERPINA1 | c.646+7T= (n.646+7T=)
| |
14 | g.94382585A>C | CA7327452 | SERPINA1 | c.646+7T>G (n.646+7T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382585A>T | CA2626309843 | SERPINA1 | c.646+7T>A (n.646+7T>A)
| gnomAD v4 |
14 | g.94382585_94382587delinsACC | CA2155954689 | SERPINA1 | c.646+5_646+7delinsGGT (n.646+5_646+7delinsGGT)
| |
14 | g.94382586C>A | CA7327453 | SERPINA1 | c.646+6G>T (n.646+6G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382586C= | CA2155954691 | SERPINA1 | c.646+6G= (n.646+6G=)
| |
14 | g.94382586_94382587del | CA7327451 | SERPINA1 | c.646+5_646+6del (n.646+5_646+6del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382587C= | CA2155954692 | SERPINA1 | c.646+5G= (n.646+5G=)
| |
14 | g.94382587C>T | CA7327454 | SERPINA1 | c.646+5G>A (n.646+5G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382590A= | CA2155954693 | SERPINA1 | c.646+2T= (n.646+2T=)
| |
14 | g.94382590A>C | CA390849229 | SERPINA1 | c.646+2T>G (n.646+2T>G)
| |
14 | g.94382590A>G | CA7327455 | SERPINA1 | c.646+2T>C (n.646+2T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382590A>T | CA390849232 | SERPINA1 | c.646+2T>A (n.646+2T>A)
| |
14 | g.94382591C>A | CA274333 | SERPINA1 | c.646+1G>T (n.646+1G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382591C= | CA2155954694 | SERPINA1 | c.646+1G= (n.646+1G=)
| |
14 | g.94382591C>G | CA390849234 | SERPINA1 | c.646+1G>C (n.646+1G>C)
| |
14 | g.94382591C>T | CA390849235 | SERPINA1 | c.646+1G>A (n.646+1G>A)
| COSMIC |
14 | g.94382592del | CA2695219658 | SERPINA1 | c.646+1del
| |
14 | g.94382592C>A | CA7327456 | SERPINA1 | c.646G>T (p.Gly216Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382592C= | CA2155954695 | SERPINA1 | c.646G= (p.Gly216=)
| |
14 | g.94382592C>G | CA390849237 | SERPINA1 | c.646G>C (p.Gly216Arg)
| |
14 | g.94382592C>T | CA390849239 | SERPINA1 | c.646G>A (p.Gly216Ser)
| |
14 | g.94382593T>A | CA390849240 | SERPINA1 | c.645A>T (p.Lys215Asn)
| |
14 | g.94382593T>C | CA7327457 | SERPINA1 | c.645A>G (p.Lys215=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382593T>G | CA390849242 | SERPINA1 | c.645A>C (p.Lys215Asn)
| |