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.94382601_94382603del | CA966134363 | SERPINA1 | c.639_641del (p.Phe214del) | dbSNP gnomAD v3 gnomAD v4 |
| 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 |
| 14 | g.94382678T>A | CA390849473 | SERPINA1 | c.560A>T (p.Lys187Met) c.302A>T (p.Lys101Met) | |
| 14 | g.94382678T>C | CA390849474 | SERPINA1 | c.560A>G (p.Lys187Arg) c.302A>G (p.Lys101Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382678T>G | CA7327470 | SERPINA1 | c.560A>C (p.Lys187Thr) c.302A>C (p.Lys101Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382678T= | CA2155954729 | SERPINA1 | c.560A= (p.Lys187=) c.302A= (p.Lys101=) | |
| 14 | g.94382679T>A | CA390849476 | SERPINA1 | c.559A>T (p.Lys187Ter) c.301A>T (p.Lys101Ter) | gnomAD v4 |
| 14 | g.94382679T>C | CA390849477 | SERPINA1 | c.559A>G (p.Lys187Glu) c.301A>G (p.Lys101Glu) | |
| 14 | g.94382679T>G | CA390849475 | SERPINA1 | c.559A>C (p.Lys187Gln) c.301A>C (p.Lys101Gln) | |
| 14 | g.94382680C>A | CA390849479 | SERPINA1 | c.558G>T (p.Glu186Asp) c.300G>T (p.Glu100Asp) | |
| 14 | g.94382680C>G | CA390849478 | SERPINA1 | c.558G>C (p.Glu186Asp) c.300G>C (p.Glu100Asp) | |
| 14 | g.94382680C>T | CA487622018 | SERPINA1 | c.558G>A (p.Glu186=) c.300G>A (p.Glu100=) | ClinVar |
| 14 | g.94382681del | CA2695199865 | SERPINA1 | c.557del (p.Glu186GlyfsTer24) c.299del (p.Glu100GlyfsTer?) | ClinVar |
| 14 | g.94382681T>A | CA390849481 | SERPINA1 | c.557A>T (p.Glu186Val) c.299A>T (p.Glu100Val) | gnomAD v4 |
| 14 | g.94382681T>C | CA265864104 | SERPINA1 | c.557A>G (p.Glu186Gly) c.299A>G (p.Glu100Gly) | dbSNP |
| 14 | g.94382681T>G | CA390849480 | SERPINA1 | c.557A>C (p.Glu186Ala) c.299A>C (p.Glu100Ala) | |
| 14 | g.94382681T= | CA2155954730 | SERPINA1 | c.557A= (p.Glu186=) c.299A= (p.Glu100=) | |
| 14 | g.94382682C>A | CA390849482 | SERPINA1 | c.556G>T (p.Glu186Ter) c.298G>T (p.Glu100Ter) | |
| 14 | g.94382682C= | CA2155954731 | SERPINA1 | c.556G= (p.Glu186=) c.298G= (p.Glu100=) | |
| 14 | g.94382682C>G | CA390849483 | SERPINA1 | c.556G>C (p.Glu186Gln) c.298G>C (p.Glu100Gln) | |
| 14 | g.94382682C>T | CA390849484 | SERPINA1 | c.556G>A (p.Glu186Lys) c.298G>A (p.Glu100Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382683C>A | CA487622019 | SERPINA1 | c.555G>T (p.Val185=) c.297G>T (p.Val99=) | |
| 14 | g.94382683C= | CA2155954732 | SERPINA1 | c.555G= (p.Val185=) c.297G= (p.Val99=) | |
| 14 | g.94382683C>G | CA487622020 | SERPINA1 | c.555G>C (p.Val185=) c.297G>C (p.Val99=) | |
| 14 | g.94382683C>T | CA487622021 | SERPINA1 | c.555G>A (p.Val185=) c.297G>A (p.Val99=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382684A>C | CA390849485 | SERPINA1 | c.554T>G (p.Val185Gly) c.296T>G (p.Val99Gly) | |
| 14 | g.94382684A>G | CA390849486 | SERPINA1 | c.554T>C (p.Val185Ala) c.296T>C (p.Val99Ala) | COSMIC |
| 14 | g.94382684A>T | CA390849487 | SERPINA1 | c.554T>A (p.Val185Glu) c.296T>A (p.Val99Glu) | |
| 14 | g.94382685C>A | CA390849488 | SERPINA1 | c.553G>T (p.Val185Leu) c.295G>T (p.Val99Leu) | |
| 14 | g.94382685C= | CA2155954733 | SERPINA1 | c.553G= (p.Val185=) c.295G= (p.Val99=) | |
| 14 | g.94382685C>G | CA390849489 | SERPINA1 | c.553G>C (p.Val185Leu) c.295G>C (p.Val99Leu) | gnomAD v4 |
| 14 | g.94382685C>T | CA7327471 | SERPINA1 | c.553G>A (p.Val185Met) c.295G>A (p.Val99Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382685_94382686delinsCG | CA2155954734 | SERPINA1 | c.552_553delinsCG (p.Tyr184=) c.294_295delinsCG (p.Tyr98=) | |
| 14 | g.94382686del | CA127692 | SERPINA1 | c.552del (p.Tyr184Ter) c.294del (p.Tyr98Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382686G>A | CA7327472 | SERPINA1 | c.552C>T (p.Tyr184=) c.294C>T (p.Tyr98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382686G>C | CA274042 | SERPINA1 | c.552C>G (p.Tyr184Ter) c.294C>G (p.Tyr98Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382686G= | CA2155954735 | SERPINA1 | c.552C= (p.Tyr184=) c.294C= (p.Tyr98=) | |
| 14 | g.94382686G>T | CA7327473 | SERPINA1 | c.552C>A (p.Tyr184Ter) c.294C>A (p.Tyr98Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382687T>A | CA390849490 | SERPINA1 | c.551A>T (p.Tyr184Phe) c.293A>T (p.Tyr98Phe) | |
| 14 | g.94382687T>C | CA390849491 | SERPINA1 | c.551A>G (p.Tyr184Cys) c.293A>G (p.Tyr98Cys) | |
| 14 | g.94382687T>G | CA390849492 | SERPINA1 | c.551A>C (p.Tyr184Ser) c.293A>C (p.Tyr98Ser) | |
| 14 | g.94382688A>C | CA390849493 | SERPINA1 | c.550T>G (p.Tyr184Asp) c.292T>G (p.Tyr98Asp) | |
| 14 | g.94382688A>G | CA390849494 | SERPINA1 | c.550T>C (p.Tyr184His) c.292T>C (p.Tyr98His) | |
| 14 | g.94382688A>T | CA390849495 | SERPINA1 | c.550T>A (p.Tyr184Asn) c.292T>A (p.Tyr98Asn) | |
| 14 | g.94382689A>C | CA390849496 | SERPINA1 | c.549T>G (p.Asp183Glu) c.291T>G (p.Asp97Glu) | |
| 14 | g.94382689A>G | CA487622022 | SERPINA1 | c.549T>C (p.Asp183=) c.291T>C (p.Asp97=) | gnomAD v4 |
| 14 | g.94382689A>T | CA390849497 | SERPINA1 | c.549T>A (p.Asp183Glu) c.291T>A (p.Asp97Glu) | |
| 14 | g.94382690T>A | CA390849498 | SERPINA1 | c.548A>T (p.Asp183Val) c.290A>T (p.Asp97Val) | |
| 14 | g.94382690T>C | CA390849499 | SERPINA1 | c.548A>G (p.Asp183Gly) c.290A>G (p.Asp97Gly) | |
| 14 | g.94382690T>G | CA390849500 | SERPINA1 | c.548A>C (p.Asp183Ala) c.290A>C (p.Asp97Ala) | |
| 14 | g.94382691C>A | CA390849501 | SERPINA1 | c.547G>T (p.Asp183Tyr) c.289G>T (p.Asp97Tyr) | |
| 14 | g.94382691C= | CA2155954736 | SERPINA1 | c.547G= (p.Asp183=) c.289G= (p.Asp97=) | |
| 14 | g.94382691C>G | CA390849502 | SERPINA1 | c.547G>C (p.Asp183His) c.289G>C (p.Asp97His) | |
| 14 | g.94382691C>T | CA7327474 | SERPINA1 | c.547G>A (p.Asp183Asn) c.289G>A (p.Asp97Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382692G>A | CA7327475 | SERPINA1 | c.546C>T (p.Asn182=) c.288C>T (p.Asn96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382692G>C | CA390849503 | SERPINA1 | c.546C>G (p.Asn182Lys) c.288C>G (p.Asn96Lys) | |
| 14 | g.94382692G= | CA2155954737 | SERPINA1 | c.546C= (p.Asn182=) c.288C= (p.Asn96=) | |
| 14 | g.94382692G>T | CA390849504 | SERPINA1 | c.546C>A (p.Asn182Lys) c.288C>A (p.Asn96Lys) | |
| 14 | g.94382693T>A | CA390849505 | SERPINA1 | c.545A>T (p.Asn182Ile) c.287A>T (p.Asn96Ile) | |
| 14 | g.94382693T>C | CA390849506 | SERPINA1 | c.545A>G (p.Asn182Ser) c.287A>G (p.Asn96Ser) | |
| 14 | g.94382693T>G | CA390849507 | SERPINA1 | c.545A>C (p.Asn182Thr) c.287A>C (p.Asn96Thr) | |
| 14 | g.94382694T>A | CA390849508 | SERPINA1 | c.544A>T (p.Asn182Tyr) c.286A>T (p.Asn96Tyr) | |
| 14 | g.94382694T>C | CA390849509 | SERPINA1 | c.544A>G (p.Asn182Asp) c.286A>G (p.Asn96Asp) | |
| 14 | g.94382694T>G | CA390849510 | SERPINA1 | c.544A>C (p.Asn182His) c.286A>C (p.Asn96His) | |
| 14 | g.94382695G>A | CA487622023 | SERPINA1 | c.543C>T (p.Ile181=) c.285C>T (p.Ile95=) | |
| 14 | g.94382695G>C | CA390849511 | SERPINA1 | c.543C>G (p.Ile181Met) c.285C>G (p.Ile95Met) | |
| 14 | g.94382695G= | CA2155954738 | SERPINA1 | c.543C= (p.Ile181=) c.285C= (p.Ile95=) | |
| 14 | g.94382695G>T | CA487622024 | SERPINA1 | c.543C>A (p.Ile181=) c.285C>A (p.Ile95=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382696A>C | CA390849512 | SERPINA1 | c.542T>G (p.Ile181Ser) c.284T>G (p.Ile95Ser) | |
| 14 | g.94382696A>G | CA390849513 | SERPINA1 | c.542T>C (p.Ile181Thr) c.284T>C (p.Ile95Thr) | ClinVar |
| 14 | g.94382696A>T | CA390849514 | SERPINA1 | c.542T>A (p.Ile181Asn) c.284T>A (p.Ile95Asn) | |
| 14 | g.94382697T>A | CA390849517 | SERPINA1 | c.541A>T (p.Ile181Phe) c.283A>T (p.Ile95Phe) | |
| 14 | g.94382697T>C | CA390849516 | SERPINA1 | c.541A>G (p.Ile181Val) c.283A>G (p.Ile95Val) | |
| 14 | g.94382697T>G | CA390849515 | SERPINA1 | c.541A>C (p.Ile181Leu) c.283A>C (p.Ile95Leu) | |
| 14 | g.94382698C>A | CA390849518 | SERPINA1 | c.540G>T (p.Gln180His) c.282G>T (p.Gln94His) | |
| 14 | g.94382698C>G | CA390849519 | SERPINA1 | c.540G>C (p.Gln180His) c.282G>C (p.Gln94His) | |
| 14 | g.94382698C>T | CA487622025 | SERPINA1 | c.540G>A (p.Gln180=) c.282G>A (p.Gln94=) | |
| 14 | g.94382699del | CA2626309969 | SERPINA1 | c.539del (p.Gln180ArgfsTer30) c.281del (p.Gln94ArgfsTer?) | gnomAD v4 |
| 14 | g.94382699T>A | CA390849520 | SERPINA1 | c.539A>T (p.Gln180Leu) c.281A>T (p.Gln94Leu) | |
| 14 | g.94382699T>C | CA390849521 | SERPINA1 | c.539A>G (p.Gln180Arg) c.281A>G (p.Gln94Arg) | |
| 14 | g.94382699T>G | CA390849522 | SERPINA1 | c.539A>C (p.Gln180Pro) c.281A>C (p.Gln94Pro) | gnomAD v4 |
| 14 | g.94382700G>A | CA348651 | SERPINA1 | c.538C>T (p.Gln180Ter) c.280C>T (p.Gln94Ter) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94382700G>C | CA390849523 | SERPINA1 | c.538C>G (p.Gln180Glu) c.280C>G (p.Gln94Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382700G= | CA2155954739 | SERPINA1 | c.538C= (p.Gln180=) c.280C= (p.Gln94=) | |
| 14 | g.94382700G>T | CA390849524 | SERPINA1 | c.538C>A (p.Gln180Lys) c.280C>A (p.Gln94Lys) | gnomAD v4 |
| 14 | g.94382701T>A | CA390849525 | SERPINA1 | c.537A>T (p.Lys179Asn) c.279A>T (p.Lys93Asn) | |
| 14 | g.94382701T>C | CA487622026 | SERPINA1 | c.537A>G (p.Lys179=) c.279A>G (p.Lys93=) | |
| 14 | g.94382701T>G | CA390849526 | SERPINA1 | c.537A>C (p.Lys179Asn) c.279A>C (p.Lys93Asn) | |
| 14 | g.94382702T>A | CA390849527 | SERPINA1 | c.536A>T (p.Lys179Ile) c.278A>T (p.Lys93Ile) | |
| 14 | g.94382702T>C | CA390849528 | SERPINA1 | c.536A>G (p.Lys179Arg) c.278A>G (p.Lys93Arg) | |
| 14 | g.94382702T>G | CA390849529 | SERPINA1 | c.536A>C (p.Lys179Thr) c.278A>C (p.Lys93Thr) |