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 |
14 | g.94382598A>C | CA390849262 | SERPINA1 | c.640T>G (p.Phe214Val)
| |
14 | g.94382598A>G | CA390849264 | SERPINA1 | c.640T>C (p.Phe214Leu)
| |
14 | g.94382598A>T | CA390849266 | SERPINA1 | c.640T>A (p.Phe214Ile)
| |
14 | g.94382599G>A | CA487621814 | SERPINA1 | c.639C>T (p.Phe213=)
| COSMIC |
14 | g.94382599G>C | CA390849267 | SERPINA1 | c.639C>G (p.Phe213Leu)
| |
14 | g.94382599G>T | CA390849269 | SERPINA1 | c.639C>A (p.Phe213Leu)
| |
14 | g.94382600A>C | CA390849270 | SERPINA1 | c.638T>G (p.Phe213Cys)
| |
14 | g.94382600A>G | CA390849273 | SERPINA1 | c.638T>C (p.Phe213Ser)
| |
14 | g.94382600A>T | CA390849272 | SERPINA1 | c.638T>A (p.Phe213Tyr)
| |
14 | g.94382601A>C | CA390849275 | SERPINA1 | c.637T>G (p.Phe213Val)
| |
14 | g.94382601A>G | CA390849278 | SERPINA1 | c.637T>C (p.Phe213Leu)
| |
14 | g.94382601A>T | CA390849277 | SERPINA1 | c.637T>A (p.Phe213Ile)
| |
14 | g.94382602G>A | CA487621825 | SERPINA1 | c.636C>T (p.Ile212=)
| gnomAD v4 |
14 | g.94382602G>C | CA390849280 | SERPINA1 | c.636C>G (p.Ile212Met)
| |
14 | g.94382602G>T | CA487621829 | SERPINA1 | c.636C>A (p.Ile212=)
| |
14 | g.94382603A= | CA2155954698 | SERPINA1 | c.635T= (p.Ile212=)
| |
14 | g.94382603A>C | CA390849281 | SERPINA1 | c.635T>G (p.Ile212Ser)
| dbSNP gnomAD v4 |
14 | g.94382603A>G | CA390849283 | SERPINA1 | c.635T>C (p.Ile212Thr)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382603A>T | CA390849284 | SERPINA1 | c.635T>A (p.Ile212Asn)
| gnomAD v4 |
14 | g.94382604T>A | CA390849286 | SERPINA1 | c.634A>T (p.Ile212Phe)
| |
14 | g.94382604T>C | CA7327458 | SERPINA1 | c.634A>G (p.Ile212Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382604T>G | CA390849289 | SERPINA1 | c.634A>C (p.Ile212Leu)
| |
14 | g.94382604T= | CA2155954699 | SERPINA1 | c.634A= (p.Ile212=)
| |
14 | g.94382605G>A | CA487621833 | SERPINA1 | c.633C>T (p.Tyr211=)
| |
14 | g.94382605G>C | CA390849290 | SERPINA1 | c.633C>G (p.Tyr211Ter)
| |
14 | g.94382605G>T | CA390849292 | SERPINA1 | c.633C>A (p.Tyr211Ter)
| |
14 | g.94382606T>A | CA390849293 | SERPINA1 | c.632A>T (p.Tyr211Phe)
| |
14 | g.94382606T>C | CA390849295 | SERPINA1 | c.632A>G (p.Tyr211Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382606T>G | CA390849296 | SERPINA1 | c.632A>C (p.Tyr211Ser)
| |
14 | g.94382606T= | CA2155954700 | SERPINA1 | c.632A= (p.Tyr211=)
| |
14 | g.94382607A= | CA2155954701 | SERPINA1 | c.631T= (p.Tyr211=)
| |
14 | g.94382607A>C | CA390849298 | SERPINA1 | c.631T>G (p.Tyr211Asp)
| |
14 | g.94382607A>G | CA349617 | SERPINA1 | c.631T>C (p.Tyr211His)
| ClinVar dbSNP gnomAD v4 |
14 | g.94382607A>T | CA390849299 | SERPINA1 | c.631T>A (p.Tyr211Asn)
| |
14 | g.94382608A>C | CA390849301 | SERPINA1 | c.630T>G (p.Asn210Lys)
| |
14 | g.94382608A>G | CA487621849 | SERPINA1 | c.630T>C (p.Asn210=)
| gnomAD v4 |
14 | g.94382608A>T | CA390849303 | SERPINA1 | c.630T>A (p.Asn210Lys)
| |
14 | g.94382609T>A | CA390849304 | SERPINA1 | c.629A>T (p.Asn210Ile)
| |
14 | g.94382609T>C | CA390849306 | SERPINA1 | c.629A>G (p.Asn210Ser)
| |
14 | g.94382609T>G | CA390849307 | SERPINA1 | c.629A>C (p.Asn210Thr)
| |
14 | g.94382610T>A | CA390849309 | SERPINA1 | c.628A>T (p.Asn210Tyr)
| |
14 | g.94382610T>C | CA390849311 | SERPINA1 | c.628A>G (p.Asn210Asp)
| gnomAD v4 |
14 | g.94382610T>G | CA390849313 | SERPINA1 | c.628A>C (p.Asn210His)
| |
14 | g.94382611C>A | CA487621861 | SERPINA1 | c.627G>T (p.Val209=)
| |
14 | g.94382611C= | CA2155954702 | SERPINA1 | c.627G= (p.Val209=)
| |
14 | g.94382611C>G | CA487621862 | SERPINA1 | c.627G>C (p.Val209=)
| ClinVar |
14 | g.94382611C>T | CA7327459 | SERPINA1 | c.627G>A (p.Val209=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382612A= | CA2155954703 | SERPINA1 | c.626T= (p.Val209=)
| |
14 | g.94382612A>C | CA390849316 | SERPINA1 | c.626T>G (p.Val209Gly)
| |
14 | g.94382612A>G | CA390849318 | SERPINA1 | c.626T>C (p.Val209Ala)
| ClinVar dbSNP gnomAD v4 COSMIC |
14 | g.94382612A>T | CA390849315 | SERPINA1 | c.626T>A (p.Val209Glu)
| |
14 | g.94382613C>A | CA390849319 | SERPINA1 | c.625G>T (p.Val209Leu)
| gnomAD v4 |
14 | g.94382613C= | CA2155954704 | SERPINA1 | c.625G= (p.Val209=)
| |
14 | g.94382613C>G | CA7327460 | SERPINA1 | c.625G>C (p.Val209Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382613C>T | CA390849321 | SERPINA1 | c.625G>A (p.Val209Met)
| |
14 | g.94382614C>A | CA487621870 | SERPINA1 | c.624G>T (p.Leu208=)
| |
14 | g.94382614C>G | CA487621868 | SERPINA1 | c.624G>C (p.Leu208=)
| |
14 | g.94382614C>T | CA487621869 | SERPINA1 | c.624G>A (p.Leu208=)
| |
14 | g.94382615A>C | CA390849323 | SERPINA1 | c.623T>G (p.Leu208Arg)
| |
14 | g.94382615A>G | CA390849325 | SERPINA1 | c.623T>C (p.Leu208Pro)
| |
14 | g.94382615A>T | CA390849326 | SERPINA1 | c.623T>A (p.Leu208Gln)
| |
14 | g.94382616G>A | CA487621871 | SERPINA1 | c.622C>T (p.Leu208=)
| |
14 | g.94382616G>C | CA390849328 | SERPINA1 | c.622C>G (p.Leu208Val)
| |
14 | g.94382616G>T | CA390849330 | SERPINA1 | c.622C>A (p.Leu208Met)
| |
14 | g.94382617A>C | CA487621873 | SERPINA1 | c.621T>G (p.Ala207=)
| |
14 | g.94382617A>G | CA487621874 | SERPINA1 | c.621T>C (p.Ala207=)
| |
14 | g.94382617A>T | CA487621872 | SERPINA1 | c.621T>A (p.Ala207=)
| |
14 | g.94382618G>A | CA390849332 | SERPINA1 | c.620C>T (p.Ala207Val)
| |
14 | g.94382618G>C | CA390849333 | SERPINA1 | c.620C>G (p.Ala207Gly)
| |
14 | g.94382618G>T | CA390849335 | SERPINA1 | c.620C>A (p.Ala207Asp)
| |
14 | g.94382619C>A | CA390849337 | SERPINA1 | c.619G>T (p.Ala207Ser)
| COSMIC |
14 | g.94382619C>G | CA390849339 | SERPINA1 | c.619G>C (p.Ala207Pro)
| |
14 | g.94382619C>T | CA390849340 | SERPINA1 | c.619G>A (p.Ala207Thr)
| |
14 | g.94382620A>C | CA390849341 | SERPINA1 | c.618T>G (p.Phe206Leu)
| |
14 | g.94382620A>G | CA487621878 | SERPINA1 | c.618T>C (p.Phe206=)
| ClinVar |
14 | g.94382620A>T | CA390849342 | SERPINA1 | c.618T>A (p.Phe206Leu)
| |
14 | g.94382621A= | CA2155954705 | SERPINA1 | c.617T= (p.Phe206=)
| |
14 | g.94382621A>C | CA390849344 | SERPINA1 | c.617T>G (p.Phe206Cys)
| |
14 | g.94382621A>G | CA390849346 | SERPINA1 | c.617T>C (p.Phe206Ser)
| |
14 | g.94382621A>T | CA390849348 | SERPINA1 | c.617T>A (p.Phe206Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382622A= | CA2155954706 | SERPINA1 | c.616T= (p.Phe206=)
| |
14 | g.94382622A>C | CA390849349 | SERPINA1 | c.616T>G (p.Phe206Val)
| |
14 | g.94382622A>G | CA265864096 | SERPINA1 | c.616T>C (p.Phe206Leu)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382622A>T | CA390849351 | SERPINA1 | c.616T>A (p.Phe206Ile)
| |
14 | g.94382623A>C | CA487621889 | SERPINA1 | c.615T>G (p.Val205=)
| |
14 | g.94382623A>G | CA487621887 | SERPINA1 | c.615T>C (p.Val205=)
| |
14 | g.94382623A>T | CA487621888 | SERPINA1 | c.615T>A (p.Val205=)
| |
14 | g.94382624A= | CA2155954707 | SERPINA1 | c.614T= (p.Val205=)
| |
14 | g.94382624A>C | CA390849353 | SERPINA1 | c.614T>G (p.Val205Gly)
| |
14 | g.94382624A>G | CA390849355 | SERPINA1 | c.614T>C (p.Val205Ala)
| dbSNP |
14 | g.94382624A>T | CA390849356 | SERPINA1 | c.614T>A (p.Val205Asp)
| |
14 | g.94382625C>A | CA390849357 | SERPINA1 | c.613G>T (p.Val205Phe)
| |
14 | g.94382625C= | CA2155954708 | SERPINA1 | c.613G= (p.Val205=)
| |
14 | g.94382625C>G | CA390849358 | SERPINA1 | c.613G>C (p.Val205Leu)
| |
14 | g.94382625C>T | CA7327461 | SERPINA1 | c.613G>A (p.Val205Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.94382625_94382626del | CA2695219659 | SERPINA1 | c.612_613del (p.Val205PhefsTer10)
| |
14 | g.94382625_94382627delinsCTG | CA2155954709 | SERPINA1 | c.611_613delinsCAG (p.Thr204=)
| |
14 | g.94382626T>A | CA487621892 | SERPINA1 | c.612A>T (p.Thr204=)
| |
14 | g.94382626T>C | CA487621893 | SERPINA1 | c.612A>G (p.Thr204=)
| |
14 | g.94382626T>G | CA487621894 | SERPINA1 | c.612A>C (p.Thr204=)
| |
14 | g.94382626dup | CA645582237 | SERPINA1 | c.612dup (p.Val205SerfsTer11)
| COSMIC |
14 | g.94382629_94382630del | CA265864097 | SERPINA1 | c.611_612del (p.Thr204SerfsTer11)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382626_94382627insA | CA487621895 | SERPINA1 | c.611_612insT (p.Val205SerfsTer11)
| |
14 | g.94382627G>A | CA390849361 | SERPINA1 | c.611C>T (p.Thr204Ile)
| |
14 | g.94382627G>C | CA390849360 | SERPINA1 | c.611C>G (p.Thr204Arg)
| |
14 | g.94382627G>T | CA390849359 | SERPINA1 | c.611C>A (p.Thr204Lys)
| |
14 | g.94382628T>A | CA390849362 | SERPINA1 | c.610A>T (p.Thr204Ser)
| |
14 | g.94382628T>C | CA390849364 | SERPINA1 | c.610A>G (p.Thr204Ala)
| |
14 | g.94382628T>G | CA390849363 | SERPINA1 | c.610A>C (p.Thr204Pro)
| |
14 | g.94382629G>A | CA487621900 | SERPINA1 | c.609C>T (p.Asp203=)
| |
14 | g.94382629G>C | CA265864099 | SERPINA1 | c.609C>G (p.Asp203Glu)
| dbSNP COSMIC |
14 | g.94382629G= | CA2155954710 | SERPINA1 | c.609C= (p.Asp203=)
| |
14 | g.94382629G>T | CA390849365 | SERPINA1 | c.609C>A (p.Asp203Glu)
| |
14 | g.94382630T>A | CA390849366 | SERPINA1 | c.608A>T (p.Asp203Val)
| |
14 | g.94382630T>C | CA390849368 | SERPINA1 | c.608A>G (p.Asp203Gly)
| gnomAD v4 |
14 | g.94382630T>G | CA390849367 | SERPINA1 | c.608A>C (p.Asp203Ala)
| |
14 | g.94382633_94382634del | CA2580612789 | SERPINA1 | c.607_608del (p.Asp203HisfsTer12)
| ClinVar dbSNP |
14 | g.94382631C>A | CA390849369 | SERPINA1 | c.607G>T (p.Asp203Tyr)
| |
14 | g.94382631C>G | CA390849370 | SERPINA1 | c.607G>C (p.Asp203His)
| |
14 | g.94382631C>T | CA390849371 | SERPINA1 | c.607G>A (p.Asp203Asn)
| |
14 | g.94382632T>A | CA390849372 | SERPINA1 | c.606A>T (p.Arg202Ser)
| |
14 | g.94382632T>C | CA487621909 | SERPINA1 | c.606A>G (p.Arg202=)
| |
14 | g.94382632T>G | CA390849373 | SERPINA1 | c.606A>C (p.Arg202Ser)
| |
14 | g.94382633C>A | CA390849374 | SERPINA1 | c.605G>T (p.Arg202Ile)
| |
14 | g.94382633C= | CA2155954711 | SERPINA1 | c.605G= (p.Arg202=)
| |
14 | g.94382633C>G | CA390849375 | SERPINA1 | c.605G>C (p.Arg202Thr)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382633C>T | CA7327462 | SERPINA1 | c.605G>A (p.Arg202Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382634T>A | CA390849376 | SERPINA1 | c.604A>T (p.Arg202Ter)
| |
14 | g.94382634T>C | CA390849377 | SERPINA1 | c.604A>G (p.Arg202Gly)
| |
14 | g.94382634T>G | CA487621915 | SERPINA1 | c.604A>C (p.Arg202=)
| |
14 | g.94382635G>A | CA487621916 | SERPINA1 | c.603C>T (p.Asp201=)
| |
14 | g.94382635G>C | CA390849378 | SERPINA1 | c.603C>G (p.Asp201Glu)
| dbSNP |
14 | g.94382635G= | CA2155954712 | SERPINA1 | c.603C= (p.Asp201=)
| |
14 | g.94382635G>T | CA390849379 | SERPINA1 | c.603C>A (p.Asp201Glu)
| gnomAD v4 |
14 | g.94382636T>A | CA390849380 | SERPINA1 | c.602A>T (p.Asp201Val)
| |
14 | g.94382636T>C | CA390849382 | SERPINA1 | c.602A>G (p.Asp201Gly)
| dbSNP |
14 | g.94382636T>G | CA390849381 | SERPINA1 | c.602A>C (p.Asp201Ala)
| |
14 | g.94382636T= | CA2155954713 | SERPINA1 | c.602A= (p.Asp201=)
| |
14 | g.94382636_94382637insGTCTCTCT | CA2695219660 | SERPINA1 | c.602_603insGAGAGACA (p.Asp201GlufsTer12)
| |
14 | g.94382637C>A | CA390849383 | SERPINA1 | c.601G>T (p.Asp201Tyr)
| COSMIC |
14 | g.94382637C= | CA2155954714 | SERPINA1 | c.601G= (p.Asp201=)
| |
14 | g.94382637C>G | CA390849384 | SERPINA1 | c.601G>C (p.Asp201His)
| |
14 | g.94382637C>T | CA265864101 | SERPINA1 | c.601G>A (p.Asp201Asn)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382638A= | CA2155954715 | SERPINA1 | c.600T= (p.Leu200=)
| |
14 | g.94382638A>C | CA487621928 | SERPINA1 | c.600T>G (p.Leu200=)
| |
14 | g.94382638A>G | CA7327463 | SERPINA1 | c.600T>C (p.Leu200=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382638A>T | CA487621927 | SERPINA1 | c.600T>A (p.Leu200=)
| |
14 | g.94382638_94382639del | CA2626309919 | SERPINA1 | c.599_600del (p.Leu200ArgfsTer15)
| gnomAD v4 |
14 | g.94382639A>C | CA390849385 | SERPINA1 | c.599T>G (p.Leu200Arg)
| |
14 | g.94382639A>G | CA390849386 | SERPINA1 | c.599T>C (p.Leu200Pro)
| |
14 | g.94382639A>T | CA390849387 | SERPINA1 | c.599T>A (p.Leu200His)
| |
14 | g.94382640del | CA2626309922 | SERPINA1 | c.598del (p.Asp201ThrfsTer9)
| gnomAD v4 |
14 | g.94382640G>A | CA390849388 | SERPINA1 | c.598C>T (p.Leu200Phe)
| |
14 | g.94382640G>C | CA390849389 | SERPINA1 | c.598C>G (p.Leu200Val)
| |
14 | g.94382640G>T | CA390849390 | SERPINA1 | c.598C>A (p.Leu200Ile)
| |
14 | g.94382641C>A | CA7327464 | SERPINA1 | c.597G>T (p.Glu199Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382641C= | CA2155954716 | SERPINA1 | c.597G= (p.Glu199=)
| |
14 | g.94382641C>G | CA390849391 | SERPINA1 | c.597G>C (p.Glu199Asp)
| gnomAD v4 |
14 | g.94382641C>T | CA487621935 | SERPINA1 | c.597G>A (p.Glu199=)
| gnomAD v4 |
14 | g.94382642T>A | CA390849392 | SERPINA1 | c.596A>T (p.Glu199Val)
| |
14 | g.94382642T>C | CA390849393 | SERPINA1 | c.596A>G (p.Glu199Gly)
| |
14 | g.94382642T>G | CA390849394 | SERPINA1 | c.596A>C (p.Glu199Ala)
| |
14 | g.94382643C>A | CA390849395 | SERPINA1 | c.595G>T (p.Glu199Ter)
| |
14 | g.94382643C>G | CA390849396 | SERPINA1 | c.595G>C (p.Glu199Gln)
| |
14 | g.94382643C>T | CA390849397 | SERPINA1 | c.595G>A (p.Glu199Lys)
| gnomAD v4 |
14 | g.94382644C>A | CA390849398 | SERPINA1 | c.594G>T (p.Lys198Asn)
| |
14 | g.94382644C>G | CA390849399 | SERPINA1 | c.594G>C (p.Lys198Asn)
| |
14 | g.94382644C>T | CA487621943 | SERPINA1 | c.594G>A (p.Lys198=)
| |
14 | g.94382645T>A | CA390849400 | SERPINA1 | c.593A>T (p.Lys198Met)
| |
14 | g.94382645T>C | CA390849401 | SERPINA1 | c.593A>G (p.Lys198Arg)
| gnomAD v4 |
14 | g.94382645T>G | CA390849402 | SERPINA1 | c.593A>C (p.Lys198Thr)
| |
14 | g.94382646T>A | CA390849404 | SERPINA1 | c.592A>T (p.Lys198Ter)
| |
14 | g.94382646T>C | CA7327465 | SERPINA1 | c.592A>G (p.Lys198Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382646T>G | CA390849403 | SERPINA1 | c.592A>C (p.Lys198Gln)
| |
14 | g.94382646T= | CA2155954717 | SERPINA1 | c.592A= (p.Lys198=)
| |
14 | g.94382647G>A | CA487621949 | SERPINA1 | c.591C>T (p.Val197=)
| gnomAD v4 |
14 | g.94382647G>C | CA487621950 | SERPINA1 | c.591C>G (p.Val197=)
| |
14 | g.94382647G>T | CA487621951 | SERPINA1 | c.591C>A (p.Val197=)
| |
14 | g.94382648A>C | CA390849405 | SERPINA1 | c.590T>G (p.Val197Gly)
| |
14 | g.94382648A>G | CA390849406 | SERPINA1 | c.590T>C (p.Val197Ala)
| gnomAD v4 |
14 | g.94382648A>T | CA390849407 | SERPINA1 | c.590T>A (p.Val197Asp)
| |
14 | g.94382649C>A | CA390849408 | SERPINA1 | c.589G>T (p.Val197Phe)
| gnomAD v4 COSMIC |
14 | g.94382649C>G | CA390849409 | SERPINA1 | c.589G>C (p.Val197Leu)
| |
14 | g.94382649C>T | CA390849410 | SERPINA1 | c.589G>A (p.Val197Ile)
| gnomAD v4 |
14 | g.94382652_94382657del | CA2575614297 | SERPINA1 | c.584_589del (p.Asp195_Leu196del)
| |
14 | g.94382650C>A | CA390849411 | SERPINA1 | c.588G>T (p.Leu196Phe)
| |
14 | g.94382650C= | CA2155954718 | SERPINA1 | c.588G= (p.Leu196=)
| |
14 | g.94382650C>G | CA390849412 | SERPINA1 | c.588G>C (p.Leu196Phe)
| |
14 | g.94382650C>T | CA487621956 | SERPINA1 | c.588G>A (p.Leu196=)
| ClinVar dbSNP |
14 | g.94382651A= | CA2155954719 | SERPINA1 | c.587T= (p.Leu196=)
| |
14 | g.94382651A>C | CA390849413 | SERPINA1 | c.587T>G (p.Leu196Trp)
| |
14 | g.94382651A>G | CA7327466 | SERPINA1 | c.587T>C (p.Leu196Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382651A>T | CA390849414 | SERPINA1 | c.587T>A (p.Leu196Ter)
| |
14 | g.94382651_94382653delinsAAA | CA2155954720 | SERPINA1 | c.585_587delinsTTT (p.Asp195=)
| |
14 | g.94382652A>C | CA390849415 | SERPINA1 | c.586T>G (p.Leu196Val)
| |
14 | g.94382652A>G | CA487621961 | SERPINA1 | c.586T>C (p.Leu196=)
| |
14 | g.94382652A>T | CA390849416 | SERPINA1 | c.586T>A (p.Leu196Met)
| |
14 | g.94382652_94382653delinsT | CA913190708 | SERPINA1 | c.585_586delinsA (p.Asp195GlufsTer15)
| ClinVar dbSNP |
14 | g.94382653A>C | CA390849418 | SERPINA1 | c.585T>G (p.Asp195Glu)
| |
14 | g.94382653A>G | CA487621963 | SERPINA1 | c.585T>C (p.Asp195=)
| |
14 | g.94382653A>T | CA390849417 | SERPINA1 | c.585T>A (p.Asp195Glu)
| |
14 | g.94382654T>A | CA390849419 | SERPINA1 | c.584A>T (p.Asp195Val)
| |
14 | g.94382654T>C | CA390849421 | SERPINA1 | c.584A>G (p.Asp195Gly)
| |
14 | g.94382654T>G | CA390849420 | SERPINA1 | c.584A>C (p.Asp195Ala)
| |
14 | g.94382655C>A | CA390849422 | SERPINA1 | c.583G>T (p.Asp195Tyr)
| |
14 | g.94382655C>G | CA390849423 | SERPINA1 | c.583G>C (p.Asp195His)
| |
14 | g.94382655C>T | CA390849424 | SERPINA1 | c.583G>A (p.Asp195Asn)
| |
14 | g.94382656C>A | CA487621965 | SERPINA1 | c.582G>T (p.Val194=)
| |
14 | g.94382656C>G | CA487621966 | SERPINA1 | c.582G>C (p.Val194=)
| |
14 | g.94382656C>T | CA487621967 | SERPINA1 | c.582G>A (p.Val194=)
| |
14 | g.94382657A>C | CA390849425 | SERPINA1 | c.581T>G (p.Val194Gly)
| |
14 | g.94382657A>G | CA390849426 | SERPINA1 | c.581T>C (p.Val194Ala)
| |
14 | g.94382657A>T | CA390849427 | SERPINA1 | c.581T>A (p.Val194Glu)
| |