14 | g.94382497A>G | CA2626309757 | SERPINA1 | c.646+95T>C (n.646+95T>C)
| gnomAD v4 |
14 | g.94382498T>A | CA265864070 | SERPINA1 | c.646+94A>T (n.646+94A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382498T>G | CA2626309758 | SERPINA1 | c.646+94A>C (n.646+94A>C)
| gnomAD v4 |
14 | g.94382498T= | CA2155954649 | SERPINA1 | c.646+94A= (n.646+94A=)
| |
14 | g.94382499A>T | CA2575614271 | SERPINA1 | c.646+93T>A (n.646+93T>A)
| gnomAD v4 |
14 | g.94382500A>C | CA2802663926 | SERPINA1 | c.646+92T>G (n.646+92T>G)
| |
14 | g.94382500A>G | CA2552493101 | SERPINA1 | c.646+92T>C (n.646+92T>C)
| gnomAD v4 |
14 | g.94382501T>C | CA2155954651 | SERPINA1 | c.646+91A>G (n.646+91A>G)
| dbSNP gnomAD v4 |
14 | g.94382501T= | CA2155954650 | SERPINA1 | c.646+91A= (n.646+91A=)
| |
14 | g.94382502G>T | CA2626309764 | SERPINA1 | c.646+90C>A (n.646+90C>A)
| gnomAD v4 |
14 | g.94382503C= | CA2155954652 | SERPINA1 | c.646+89G= (n.646+89G=)
| |
14 | g.94382503C>T | CA265864072 | SERPINA1 | c.646+89G>A (n.646+89G>A)
| dbSNP gnomAD v4 |
14 | g.94382504A= | CA2155954653 | SERPINA1 | c.646+88T= (n.646+88T=)
| |
14 | g.94382504A>C | CA2626309766 | SERPINA1 | c.646+88T>G (n.646+88T>G)
| gnomAD v4 |
14 | g.94382504A>G | CA615831402 | SERPINA1 | c.646+88T>C (n.646+88T>C)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382505T>C | CA2626309769 | SERPINA1 | c.646+87A>G (n.646+87A>G)
| gnomAD v4 |
14 | g.94382505T>G | CA966134338 | SERPINA1 | c.646+87A>C (n.646+87A>C)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382505T= | CA2155954654 | SERPINA1 | c.646+87A= (n.646+87A=)
| |
14 | g.94382506T>C | CA2626309771 | SERPINA1 | c.646+86A>G (n.646+86A>G)
| gnomAD v4 |
14 | g.94382507G>A | CA2575614275 | SERPINA1 | c.646+85C>T (n.646+85C>T)
| |
14 | g.94382507G>T | CA2575614276 | SERPINA1 | c.646+85C>A (n.646+85C>A)
| gnomAD v4 |
14 | g.94382508C= | CA2155954655 | SERPINA1 | c.646+84G= (n.646+84G=)
| |
14 | g.94382508C>T | CA2155954656 | SERPINA1 | c.646+84G>A (n.646+84G>A)
| dbSNP |
14 | g.94382509C>A | CA2626309773 | SERPINA1 | c.646+83G>T (n.646+83G>T)
| gnomAD v4 |
14 | g.94382509C= | CA2155954657 | SERPINA1 | c.646+83G= (n.646+83G=)
| |
14 | g.94382509C>G | CA2626309775 | SERPINA1 | c.646+83G>C (n.646+83G>C)
| gnomAD v4 |
14 | g.94382509C>T | CA710096553 | SERPINA1 | c.646+83G>A (n.646+83G>A)
| dbSNP gnomAD v4 |
14 | g.94382510A>G | CA2626309778 | SERPINA1 | c.646+82T>C (n.646+82T>C)
| gnomAD v4 |
14 | g.94382512G>A | CA2626309780 | SERPINA1 | c.646+80C>T (n.646+80C>T)
| gnomAD v4 |
14 | g.94382512G= | CA2155954658 | SERPINA1 | c.646+80C= (n.646+80C=)
| |
14 | g.94382512G>T | CA2626309781 | SERPINA1 | c.646+80C>A (n.646+80C>A)
| gnomAD v4 |
14 | g.94382513G>A | CA2626309784 | SERPINA1 | c.646+79C>T (n.646+79C>T)
| gnomAD v4 |
14 | g.94382516_94382517dup | CA265864075 | SERPINA1 | c.646+78_646+79dup (n.646+78_646+79dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382514A>G | CA2626309785 | SERPINA1 | c.646+78T>C (n.646+78T>C)
| gnomAD v4 |
14 | g.94382515G>C | CA2626309786 | SERPINA1 | c.646+77C>G (n.646+77C>G)
| gnomAD v4 |
14 | g.94382517G>A | CA2626309787 | SERPINA1 | c.646+75C>T (n.646+75C>T)
| gnomAD v4 |
14 | g.94382517G>T | CA2626309788 | SERPINA1 | c.646+75C>A (n.646+75C>A)
| gnomAD v4 |
14 | g.94382522A= | CA2155954659 | SERPINA1 | c.646+70T= (n.646+70T=)
| |
14 | g.94382522A>G | CA265864076 | SERPINA1 | c.646+70T>C (n.646+70T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382523G= | CA2155954660 | SERPINA1 | c.646+69C= (n.646+69C=)
| |
14 | g.94382523G>T | CA913962834 | SERPINA1 | c.646+69C>A (n.646+69C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382524A= | CA2155954661 | SERPINA1 | c.646+68T= (n.646+68T=)
| |
14 | g.94382524A>G | CA710096555 | SERPINA1 | c.646+68T>C (n.646+68T>C)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382525A= | CA2155954662 | SERPINA1 | c.646+67T= (n.646+67T=)
| |
14 | g.94382525A>G | CA966134343 | SERPINA1 | c.646+67T>C (n.646+67T>C)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382530_94382537del | CA2626309794 | SERPINA1 | c.646+58_646+65del (n.646+58_646+65del)
| gnomAD v4 |
14 | g.94382528G>C | CA2155954664 | SERPINA1 | c.646+64C>G (n.646+64C>G)
| dbSNP |
14 | g.94382528G= | CA2155954663 | SERPINA1 | c.646+64C= (n.646+64C=)
| |
14 | g.94382528G>T | CA2626309796 | SERPINA1 | c.646+64C>A (n.646+64C>A)
| gnomAD v4 |
14 | g.94382530T>A | CA2626309797 | SERPINA1 | c.646+62A>T (n.646+62A>T)
| gnomAD v4 |
14 | g.94382531G>A | CA2626309800 | SERPINA1 | c.646+61C>T (n.646+61C>T)
| gnomAD v4 |
14 | g.94382532del | CA2626309799 | SERPINA1 | c.646+61del (n.646+61del)
| gnomAD v4 |
14 | g.94382532G>A | CA2626309802 | SERPINA1 | c.646+60C>T (n.646+60C>T)
| gnomAD v4 |
14 | g.94382533T>A | CA2155954666 | SERPINA1 | c.646+59A>T (n.646+59A>T)
| dbSNP gnomAD v4 |
14 | g.94382533T>C | CA2155954667 | SERPINA1 | c.646+59A>G (n.646+59A>G)
| dbSNP gnomAD v4 |
14 | g.94382533T>G | CA2155954668 | SERPINA1 | c.646+59A>C (n.646+59A>C)
| dbSNP |
14 | g.94382533T= | CA2155954665 | SERPINA1 | c.646+59A= (n.646+59A=)
| |
14 | g.94382534T>C | CA2626309807 | SERPINA1 | c.646+58A>G (n.646+58A>G)
| gnomAD v4 |
14 | g.94382534T>G | CA2626309808 | SERPINA1 | c.646+58A>C (n.646+58A>C)
| gnomAD v4 |
14 | g.94382535T>G | CA2626309809 | SERPINA1 | c.646+57A>C (n.646+57A>C)
| gnomAD v4 |
14 | g.94382537A= | CA2155954669 | SERPINA1 | c.646+55T= (n.646+55T=)
| |
14 | g.94382537A>G | CA265864077 | SERPINA1 | c.646+55T>C (n.646+55T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382538G>T | CA2557212251 | SERPINA1 | c.646+54C>A (n.646+54C>A)
| |
14 | g.94382539A>C | CA2626309812 | SERPINA1 | c.646+53T>G (n.646+53T>G)
| gnomAD v4 |
14 | g.94382541T>C | CA265864079 | SERPINA1 | c.646+51A>G (n.646+51A>G)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382541T= | CA2155954670 | SERPINA1 | c.646+51A= (n.646+51A=)
| |
14 | g.94382548G>T | CA2626309815 | SERPINA1 | c.646+44C>A (n.646+44C>A)
| gnomAD v4 |
14 | g.94382552G>A | CA7327445 | SERPINA1 | c.646+40C>T (n.646+40C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382552G= | CA2155954671 | SERPINA1 | c.646+40C= (n.646+40C=)
| |
14 | g.94382553T>C | CA2626309821 | SERPINA1 | c.646+39A>G (n.646+39A>G)
| gnomAD v4 |
14 | g.94382554T>A | CA2155954673 | SERPINA1 | c.646+38A>T (n.646+38A>T)
| dbSNP gnomAD v4 |
14 | g.94382554T= | CA2155954672 | SERPINA1 | c.646+38A= (n.646+38A=)
| |
14 | g.94382557T>C | CA710096557 | SERPINA1 | c.646+35A>G (n.646+35A>G)
| dbSNP |
14 | g.94382557T= | CA2155954674 | SERPINA1 | c.646+35A= (n.646+35A=)
| |
14 | g.94382558A= | CA2155954675 | SERPINA1 | c.646+34T= (n.646+34T=)
| |
14 | g.94382558A>G | CA7327446 | SERPINA1 | c.646+34T>C (n.646+34T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382559T>C | CA2626309823 | SERPINA1 | c.646+33A>G (n.646+33A>G)
| gnomAD v4 |
14 | g.94382560G>A | CA710096562 | SERPINA1 | c.646+32C>T (n.646+32C>T)
| dbSNP gnomAD v4 |
14 | g.94382560G= | CA2155954676 | SERPINA1 | c.646+32C= (n.646+32C=)
| |
14 | g.94382561G= | CA2155954677 | SERPINA1 | c.646+31C= (n.646+31C=)
| |
14 | g.94382561G>T | CA265864083 | SERPINA1 | c.646+31C>A (n.646+31C>A)
| dbSNP |
14 | g.94382562G>C | CA2802663929 | SERPINA1 | c.646+30C>G (n.646+30C>G)
| |
14 | g.94382562G= | CA2155954678 | SERPINA1 | c.646+30C= (n.646+30C=)
| |
14 | g.94382562G>T | CA265864084 | SERPINA1 | c.646+30C>A (n.646+30C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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.94382567G>A | CA2802663931 | SERPINA1 | c.646+25C>T (n.646+25C>T)
| |
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)
| |
14 | g.94382593T= | CA2155954696 | SERPINA1 | c.645A= (p.Lys215=)
| |
14 | g.94382594T>A | CA390849246 | SERPINA1 | c.644A>T (p.Lys215Ile)
| |
14 | g.94382594T>C | CA390849247 | SERPINA1 | c.644A>G (p.Lys215Arg)
| |
14 | g.94382594T>G | CA390849245 | SERPINA1 | c.644A>C (p.Lys215Thr)
| |
14 | g.94382595T>A | CA390849248 | SERPINA1 | c.643A>T (p.Lys215Ter)
| |
14 | g.94382595T>C | CA390849250 | SERPINA1 | c.643A>G (p.Lys215Glu)
| |
14 | g.94382595T>G | CA390849252 | SERPINA1 | c.643A>C (p.Lys215Gln)
| |
14 | g.94382596A>C | CA390849254 | SERPINA1 | c.642T>G (p.Phe214Leu)
| |
14 | g.94382596A>G | CA487621808 | SERPINA1 | c.642T>C (p.Phe214=)
| |
14 | g.94382596A>T | CA390849255 | SERPINA1 | c.642T>A (p.Phe214Leu)
| |
14 | g.94382596_94382599delinsAAAG | CA2155954697 | SERPINA1 | c.639_642delinsCTTT (p.Phe213=)
| |
14 | g.94382597A>C | CA390849261 | SERPINA1 | c.641T>G (p.Phe214Cys)
| |
14 | g.94382597A>G | CA390849257 | SERPINA1 | c.641T>C (p.Phe214Ser)
| |
14 | g.94382597A>T | CA390849259 | SERPINA1 | c.641T>A (p.Phe214Tyr)
| |
14 | g.94382601_94382603del | CA966134363 | SERPINA1 | c.639_641del (p.Phe214del)
| dbSNP gnomAD v3 gnomAD v4 |