UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 14 | g.94382658C>A | CA390849428 | SERPINA1 | c.580G>T (p.Val194Leu) | |
| 14 | g.94382658C>G | CA390849429 | SERPINA1 | c.580G>C (p.Val194Leu) | |
| 14 | g.94382658C>T | CA390849430 | SERPINA1 | c.580G>A (p.Val194Met) | |
| 14 | g.94382659A= | CA2155954721 | SERPINA1 | c.579T= (p.Ile193=) | |
| 14 | g.94382659A>C | CA390849431 | SERPINA1 | c.579T>G (p.Ile193Met) | |
| 14 | g.94382659A>G | CA487621973 | SERPINA1 | c.579T>C (p.Ile193=) | |
| 14 | g.94382659A>T | CA487621972 | SERPINA1 | c.579T>A (p.Ile193=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382660A>C | CA390849434 | SERPINA1 | c.578T>G (p.Ile193Ser) | |
| 14 | g.94382660A>G | CA390849433 | SERPINA1 | c.578T>C (p.Ile193Thr) | |
| 14 | g.94382660A>T | CA390849432 | SERPINA1 | c.578T>A (p.Ile193Asn) | |
| 14 | g.94382661T>A | CA390849435 | SERPINA1 | c.577A>T (p.Ile193Phe) | |
| 14 | g.94382661T>C | CA390849436 | SERPINA1 | c.577A>G (p.Ile193Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382661T>G | CA390849437 | SERPINA1 | c.577A>C (p.Ile193Leu) | |
| 14 | g.94382661T= | CA2155954722 | SERPINA1 | c.577A= (p.Ile193=) | |
| 14 | g.94382662T>A | CA390849438 | SERPINA1 | c.576A>T (p.Lys192Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382662T>C | CA487621981 | SERPINA1 | c.576A>G (p.Lys192=) | gnomAD v4 |
| 14 | g.94382662T>G | CA390849439 | SERPINA1 | c.576A>C (p.Lys192Asn) | |
| 14 | g.94382662T= | CA2155954723 | SERPINA1 | c.576A= (p.Lys192=) | |
| 14 | g.94382663T>A | CA390849440 | SERPINA1 | c.575A>T (p.Lys192Ile) c.317A>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382663T>C | CA390849441 | SERPINA1 | c.575A>G (p.Lys192Arg) c.317A>G | |
| 14 | g.94382663T>G | CA390849442 | SERPINA1 | c.575A>C (p.Lys192Thr) c.317A>C | |
| 14 | g.94382663T= | CA2155954724 | SERPINA1 | c.575A= (p.Lys192=) c.317A= | |
| 14 | g.94382664T>A | CA390849443 | SERPINA1 | c.574A>T (p.Lys192Ter) c.316A>T | |
| 14 | g.94382664T>C | CA390849444 | SERPINA1 | c.574A>G (p.Lys192Glu) c.316A>G | |
| 14 | g.94382664T>G | CA390849445 | SERPINA1 | c.574A>C (p.Lys192Gln) c.316A>C | |
| 14 | g.94382665C>A | CA487621989 | SERPINA1 | c.573G>T (p.Gly191=) c.315G>T (p.Gly105=) | |
| 14 | g.94382665C= | CA2155954725 | SERPINA1 | c.573G= (p.Gly191=) c.315G= (p.Gly105=) | |
| 14 | g.94382665C>G | CA487621988 | SERPINA1 | c.573G>C (p.Gly191=) c.315G>C (p.Gly105=) | |
| 14 | g.94382665C>T | CA7327467 | SERPINA1 | c.573G>A (p.Gly191=) c.315G>A (p.Gly105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382666C>A | CA390849447 | SERPINA1 | c.572G>T (p.Gly191Val) c.314G>T (p.Gly105Val) | |
| 14 | g.94382666C>G | CA390849448 | SERPINA1 | c.572G>C (p.Gly191Ala) c.314G>C (p.Gly105Ala) | |
| 14 | g.94382666C>T | CA390849446 | SERPINA1 | c.572G>A (p.Gly191Glu) c.314G>A (p.Gly105Glu) | |
| 14 | g.94382667C>A | CA390849449 | SERPINA1 | c.571G>T (p.Gly191Trp) c.313G>T (p.Gly105Trp) | |
| 14 | g.94382667C>G | CA390849450 | SERPINA1 | c.571G>C (p.Gly191Arg) c.313G>C (p.Gly105Arg) | |
| 14 | g.94382667C>T | CA390849451 | SERPINA1 | c.571G>A (p.Gly191Arg) c.313G>A (p.Gly105Arg) | |
| 14 | g.94382668T>A | CA390849452 | SERPINA1 | c.570A>T (p.Gln190His) c.312A>T (p.Gln104His) | |
| 14 | g.94382668T>C | CA487621994 | SERPINA1 | c.570A>G (p.Gln190=) c.312A>G (p.Gln104=) | |
| 14 | g.94382668T>G | CA390849453 | SERPINA1 | c.570A>C (p.Gln190His) c.312A>C (p.Gln104His) | |
| 14 | g.94382669del | CA2626309958 | SERPINA1 | c.570del (p.Ile193LeufsTer17) c.312del (p.Gln104=) | gnomAD v4 |
| 14 | g.94382669T>A | CA390849456 | SERPINA1 | c.569A>T (p.Gln190Leu) c.311A>T (p.Gln104Leu) | |
| 14 | g.94382669T>C | CA390849455 | SERPINA1 | c.569A>G (p.Gln190Arg) c.311A>G (p.Gln104Arg) | |
| 14 | g.94382669T>G | CA390849454 | SERPINA1 | c.569A>C (p.Gln190Pro) c.311A>C (p.Gln104Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382669T= | CA2155954726 | SERPINA1 | c.569A= (p.Gln190=) c.311A= (p.Gln104=) | |
| 14 | g.94382670G>A | CA390849457 | SERPINA1 | c.568C>T (p.Gln190Ter) c.310C>T (p.Gln104Ter) | ClinVar |
| 14 | g.94382670G>C | CA390849458 | SERPINA1 | c.568C>G (p.Gln190Glu) c.310C>G (p.Gln104Glu) | |
| 14 | g.94382670G>T | CA390849459 | SERPINA1 | c.568C>A (p.Gln190Lys) c.310C>A (p.Gln104Lys) | |
| 14 | g.94382671A>C | CA487622002 | SERPINA1 | c.567T>G (p.Thr189=) c.309T>G (p.Thr103=) | |
| 14 | g.94382671A>G | CA487622000 | SERPINA1 | c.567T>C (p.Thr189=) c.309T>C (p.Thr103=) | |
| 14 | g.94382671A>T | CA487622001 | SERPINA1 | c.567T>A (p.Thr189=) c.309T>A (p.Thr103=) | |
| 14 | g.94382672G>A | CA390849460 | SERPINA1 | c.566C>T (p.Thr189Ile) c.308C>T (p.Thr103Ile) | ClinVar gnomAD v4 |
| 14 | g.94382672G>C | CA390849461 | SERPINA1 | c.566C>G (p.Thr189Ser) c.308C>G (p.Thr103Ser) | |
| 14 | g.94382672G>T | CA390849462 | SERPINA1 | c.566C>A (p.Thr189Asn) c.308C>A (p.Thr103Asn) | |
| 14 | g.94382673T>A | CA390849463 | SERPINA1 | c.565A>T (p.Thr189Ser) c.307A>T (p.Thr103Ser) | |
| 14 | g.94382673T>C | CA390849465 | SERPINA1 | c.565A>G (p.Thr189Ala) c.307A>G (p.Thr103Ala) | |
| 14 | g.94382673T>G | CA390849464 | SERPINA1 | c.565A>C (p.Thr189Pro) c.307A>C (p.Thr103Pro) | |
| 14 | g.94382674A= | CA2155954727 | SERPINA1 | c.564T= (p.Gly188=) c.306T= (p.Gly102=) | |
| 14 | g.94382674A>C | CA487622008 | SERPINA1 | c.564T>G (p.Gly188=) c.306T>G (p.Gly102=) | |
| 14 | g.94382674A>G | CA487622010 | SERPINA1 | c.564T>C (p.Gly188=) c.306T>C (p.Gly102=) | |
| 14 | g.94382674A>T | CA7327468 | SERPINA1 | c.564T>A (p.Gly188=) c.306T>A (p.Gly102=) | ClinVar dbSNP ExAC gnomAD v4 |
| 14 | g.94382675C>A | CA390849466 | SERPINA1 | c.563G>T (p.Gly188Val) c.305G>T (p.Gly102Val) | |
| 14 | g.94382675C>G | CA390849467 | SERPINA1 | c.563G>C (p.Gly188Ala) c.305G>C (p.Gly102Ala) | |
| 14 | g.94382675C>T | CA390849468 | SERPINA1 | c.563G>A (p.Gly188Asp) c.305G>A (p.Gly102Asp) | gnomAD v4 COSMIC |
| 14 | g.94382676C>A | CA390849469 | SERPINA1 | c.562G>T (p.Gly188Cys) c.304G>T (p.Gly102Cys) | |
| 14 | g.94382676C= | CA2155954728 | SERPINA1 | c.562G= (p.Gly188=) c.304G= (p.Gly102=) | |
| 14 | g.94382676C>G | CA390849470 | SERPINA1 | c.562G>C (p.Gly188Arg) c.304G>C (p.Gly102Arg) | dbSNP |
| 14 | g.94382676C>T | CA7327469 | SERPINA1 | c.562G>A (p.Gly188Ser) c.304G>A (p.Gly102Ser) | dbSNP ExAC gnomAD v2 |
| 14 | g.94382677C>A | CA390849471 | SERPINA1 | c.561G>T (p.Lys187Asn) c.303G>T (p.Lys101Asn) | |
| 14 | g.94382677C>G | CA390849472 | SERPINA1 | c.561G>C (p.Lys187Asn) c.303G>C (p.Lys101Asn) | |
| 14 | g.94382677C>T | CA487622014 | SERPINA1 | c.561G>A (p.Lys187=) c.303G>A (p.Lys101=) | ClinVar |