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.94383052G>A | CA487841217 | SERPINA1 | c.186C>T (p.Tyr62=) c.-23-50C>T (n.-23-50C>T) | |
| 14 | g.94383052G>C | CA390850602 | SERPINA1 | c.186C>G (p.Tyr62Ter) c.-23-50C>G (n.-23-50C>G) | |
| 14 | g.94383052G= | CA2155954912 | SERPINA1 | c.186C= (p.Tyr62=) c.-23-50C= (n.-23-50C=) | |
| 14 | g.94383052G>T | CA7327531 | SERPINA1 | c.186C>A (p.Tyr62Ter) c.-23-50C>A (n.-23-50C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383053T>A | CA390850604 | SERPINA1 | c.185A>T (p.Tyr62Phe) c.-23-51A>T (n.-23-51A>T) | |
| 14 | g.94383053T>C | CA390850603 | SERPINA1 | c.185A>G (p.Tyr62Cys) c.-23-51A>G (n.-23-51A>G) | |
| 14 | g.94383053T>G | CA390850605 | SERPINA1 | c.185A>C (p.Tyr62Ser) c.-23-51A>C (n.-23-51A>C) | |
| 14 | g.94383054A>C | CA390850606 | SERPINA1 | c.184T>G (p.Tyr62Asp) c.-23-52T>G (n.-23-52T>G) | |
| 14 | g.94383054A>G | CA390850607 | SERPINA1 | c.184T>C (p.Tyr62His) c.-23-52T>C (n.-23-52T>C) | |
| 14 | g.94383054A>T | CA390850608 | SERPINA1 | c.184T>A (p.Tyr62Asn) c.-23-52T>A (n.-23-52T>A) | |
| 14 | g.94383055T>A | CA487841221 | SERPINA1 | c.183A>T (p.Leu61=) c.-23-53A>T (n.-23-53A>T) | |
| 14 | g.94383055T>C | CA487841222 | SERPINA1 | c.183A>G (p.Leu61=) c.-23-53A>G (n.-23-53A>G) | dbSNP |
| 14 | g.94383055T>G | CA487841223 | SERPINA1 | c.183A>C (p.Leu61=) c.-23-53A>C (n.-23-53A>C) | gnomAD v4 |
| 14 | g.94383055T= | CA2155954913 | SERPINA1 | c.183A= (p.Leu61=) c.-23-53A= (n.-23-53A=) | |
| 14 | g.94383056A>C | CA390850609 | SERPINA1 | c.182T>G (p.Leu61Arg) c.-23-54T>G (n.-23-54T>G) | |
| 14 | g.94383056A>G | CA390850610 | SERPINA1 | c.182T>C (p.Leu61Pro) c.-23-54T>C (n.-23-54T>C) | |
| 14 | g.94383056A>T | CA390850611 | SERPINA1 | c.182T>A (p.Leu61Gln) c.-23-54T>A (n.-23-54T>A) | |
| 14 | g.94383057G>A | CA487841224 | SERPINA1 | c.181C>T (p.Leu61=) c.-23-55C>T (n.-23-55C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383057G>C | CA390850612 | SERPINA1 | c.181C>G (p.Leu61Val) c.-23-55C>G (n.-23-55C>G) | |
| 14 | g.94383057G= | CA2155954914 | SERPINA1 | c.181C= (p.Leu61=) c.-23-55C= (n.-23-55C=) | |
| 14 | g.94383057G>T | CA390850613 | SERPINA1 | c.181C>A (p.Leu61Ile) c.-23-55C>A (n.-23-55C>A) | |
| 14 | g.94383058G>A | CA487841228 | SERPINA1 | c.180C>T (p.Ser60=) c.-23-56C>T (n.-23-56C>T) | |
| 14 | g.94383058G>C | CA349449 | SERPINA1 | c.180C>G (p.Ser60Arg) c.-23-56C>G (n.-23-56C>G) | ClinVar dbSNP |
| 14 | g.94383058G= | CA2155954915 | SERPINA1 | c.180C= (p.Ser60=) c.-23-56C= (n.-23-56C=) | |
| 14 | g.94383058G>T | CA390850614 | SERPINA1 | c.180C>A (p.Ser60Arg) c.-23-56C>A (n.-23-56C>A) | gnomAD v4 |
| 14 | g.94383059C>A | CA390850615 | SERPINA1 | c.179G>T (p.Ser60Ile) c.-23-57G>T (n.-23-57G>T) | |
| 14 | g.94383059C>G | CA390850616 | SERPINA1 | c.179G>C (p.Ser60Thr) c.-23-57G>C (n.-23-57G>C) | |
| 14 | g.94383059C>T | CA390850617 | SERPINA1 | c.179G>A (p.Ser60Asn) c.-23-57G>A (n.-23-57G>A) | gnomAD v4 |
| 14 | g.94383060T>A | CA390850619 | SERPINA1 | c.178A>T (p.Ser60Cys) c.-23-58A>T (n.-23-58A>T) | |
| 14 | g.94383060T>C | CA7327532 | SERPINA1 | c.178A>G (p.Ser60Gly) c.-23-58A>G (n.-23-58A>G) | dbSNP ExAC gnomAD v2 |
| 14 | g.94383060T>G | CA390850618 | SERPINA1 | c.178A>C (p.Ser60Arg) c.-23-58A>C (n.-23-58A>C) | |
| 14 | g.94383060T= | CA2155954916 | SERPINA1 | c.178A= (p.Ser60=) c.-23-58A= (n.-23-58A=) | |
| 14 | g.94383060_94383066delinsTGAAGGC | CA2155954917 | SERPINA1 | c.172_178delinsGCCTTCA (p.Ala58=) c.-23-64_-23-58delinsGCCTTCA (n.-23-64_-23-58delinsGCCTTCA) | |
| 14 | g.94383061G>A | CA487841233 | SERPINA1 | c.177C>T (p.Phe59=) c.-23-59C>T (n.-23-59C>T) | |
| 14 | g.94383061G>C | CA390850620 | SERPINA1 | c.177C>G (p.Phe59Leu) c.-23-59C>G (n.-23-59C>G) | |
| 14 | g.94383061G>T | CA390850621 | SERPINA1 | c.177C>A (p.Phe59Leu) c.-23-59C>A (n.-23-59C>A) | |
| 14 | g.94383064_94383069del | CA710097476 | SERPINA1 | c.172_177del (p.Ala58_Phe59del) c.-23-64_-23-59del (n.-23-64_-23-59del) | dbSNP |
| 14 | g.94383062A= | CA2155954918 | SERPINA1 | c.176T= (p.Phe59=) c.-23-60T= (n.-23-60T=) | |
| 14 | g.94383062A>C | CA390850622 | SERPINA1 | c.176T>G (p.Phe59Cys) c.-23-60T>G (n.-23-60T>G) | dbSNP gnomAD v2 |
| 14 | g.94383062A>G | CA390850623 | SERPINA1 | c.176T>C (p.Phe59Ser) c.-23-60T>C (n.-23-60T>C) | |
| 14 | g.94383062A>T | CA390850624 | SERPINA1 | c.176T>A (p.Phe59Tyr) c.-23-60T>A (n.-23-60T>A) | |
| 14 | g.94383063A>C | CA390850625 | SERPINA1 | c.175T>G (p.Phe59Val) c.-23-61T>G (n.-23-61T>G) | |
| 14 | g.94383063A>G | CA390850626 | SERPINA1 | c.175T>C (p.Phe59Leu) c.-23-61T>C (n.-23-61T>C) | |
| 14 | g.94383063A>T | CA390850627 | SERPINA1 | c.175T>A (p.Phe59Ile) c.-23-61T>A (n.-23-61T>A) | |
| 14 | g.94383064G>A | CA487841238 | SERPINA1 | c.174C>T (p.Ala58=) c.-23-62C>T (n.-23-62C>T) | gnomAD v4 |
| 14 | g.94383064G>C | CA487841241 | SERPINA1 | c.174C>G (p.Ala58=) c.-23-62C>G (n.-23-62C>G) | |
| 14 | g.94383064G>T | CA487841236 | SERPINA1 | c.174C>A (p.Ala58=) c.-23-62C>A (n.-23-62C>A) | |
| 14 | g.94383065G>A | CA390850628 | SERPINA1 | c.173C>T (p.Ala58Val) c.-23-63C>T (n.-23-63C>T) | dbSNP |
| 14 | g.94383065G>C | CA265864184 | SERPINA1 | c.173C>G (p.Ala58Gly) c.-23-63C>G (n.-23-63C>G) | dbSNP |
| 14 | g.94383065G= | CA2155954919 | SERPINA1 | c.173C= (p.Ala58=) c.-23-63C= (n.-23-63C=) | |
| 14 | g.94383065G>T | CA390850629 | SERPINA1 | c.173C>A (p.Ala58Asp) c.-23-63C>A (n.-23-63C>A) | |
| 14 | g.94383066C>A | CA7327534 | SERPINA1 | c.172G>T (p.Ala58Ser) c.-23-64G>T (n.-23-64G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383066C= | CA2155954920 | SERPINA1 | c.172G= (p.Ala58=) c.-23-64G= (n.-23-64G=) | |
| 14 | g.94383066C>G | CA390850630 | SERPINA1 | c.172G>C (p.Ala58Pro) c.-23-64G>C (n.-23-64G>C) | |
| 14 | g.94383066C>T | CA7327533 | SERPINA1 | c.172G>A (p.Ala58Thr) c.-23-64G>A (n.-23-64G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383067G>A | CA7327535 | SERPINA1 | c.171C>T (p.Phe57=) c.-23-65C>T (n.-23-65C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94383067G>C | CA390850631 | SERPINA1 | c.171C>G (p.Phe57Leu) c.-23-65C>G (n.-23-65C>G) | |
| 14 | g.94383067G= | CA2155954921 | SERPINA1 | c.171C= (p.Phe57=) c.-23-65C= (n.-23-65C=) | |
| 14 | g.94383067G>T | CA390850632 | SERPINA1 | c.171C>A (p.Phe57Leu) c.-23-65C>A (n.-23-65C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383068A>C | CA390850633 | SERPINA1 | c.170T>G (p.Phe57Cys) c.-23-66T>G (n.-23-66T>G) | |
| 14 | g.94383068A>G | CA390850634 | SERPINA1 | c.170T>C (p.Phe57Ser) c.-23-66T>C (n.-23-66T>C) | |
| 14 | g.94383068A>T | CA390850635 | SERPINA1 | c.170T>A (p.Phe57Tyr) c.-23-66T>A (n.-23-66T>A) | |
| 14 | g.94383069A= | CA2155954922 | SERPINA1 | c.169T= (p.Phe57=) c.-23-67T= (n.-23-67T=) | |
| 14 | g.94383069A>C | CA390850638 | SERPINA1 | c.169T>G (p.Phe57Val) c.-23-67T>G (n.-23-67T>G) | |
| 14 | g.94383069A>G | CA390850636 | SERPINA1 | c.169T>C (p.Phe57Leu) c.-23-67T>C (n.-23-67T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383069A>T | CA390850637 | SERPINA1 | c.169T>A (p.Phe57Ile) c.-23-67T>A (n.-23-67T>A) | |
| 14 | g.94383070C>A | CA390850639 | SERPINA1 | c.168G>T (p.Glu56Asp) c.-23-68G>T (n.-23-68G>T) | |
| 14 | g.94383070C>G | CA390850640 | SERPINA1 | c.168G>C (p.Glu56Asp) c.-23-68G>C (n.-23-68G>C) | gnomAD v4 |
| 14 | g.94383070C>T | CA487841249 | SERPINA1 | c.168G>A (p.Glu56=) c.-23-68G>A (n.-23-68G>A) | |
| 14 | g.94383071T>A | CA390850641 | SERPINA1 | c.167A>T (p.Glu56Val) c.-23-69A>T (n.-23-69A>T) | |
| 14 | g.94383071T>C | CA390850642 | SERPINA1 | c.167A>G (p.Glu56Gly) c.-23-69A>G (n.-23-69A>G) | |
| 14 | g.94383071T>G | CA390850643 | SERPINA1 | c.167A>C (p.Glu56Ala) c.-23-69A>C (n.-23-69A>C) | |
| 14 | g.94383072C>A | CA390850644 | SERPINA1 | c.166G>T (p.Glu56Ter) c.-23-70G>T (n.-23-70G>T) | |
| 14 | g.94383072C>G | CA390850646 | SERPINA1 | c.166G>C (p.Glu56Gln) c.-23-70G>C (n.-23-70G>C) | gnomAD v4 |
| 14 | g.94383072C>T | CA390850645 | SERPINA1 | c.166G>A (p.Glu56Lys) c.-23-70G>A (n.-23-70G>A) | |
| 14 | g.94383073A= | CA2155954923 | SERPINA1 | c.165T= (p.Ala55=) c.-23-71T= (n.-23-71T=) | |
| 14 | g.94383073A>C | CA487841250 | SERPINA1 | c.165T>G (p.Ala55=) c.-23-71T>G (n.-23-71T>G) | |
| 14 | g.94383073A>G | CA487841251 | SERPINA1 | c.165T>C (p.Ala55=) c.-23-71T>C (n.-23-71T>C) | ClinVar dbSNP |
| 14 | g.94383073A>T | CA487841252 | SERPINA1 | c.165T>A (p.Ala55=) c.-23-71T>A (n.-23-71T>A) | |
| 14 | g.94383074G>A | CA390850647 | SERPINA1 | c.164C>T (p.Ala55Val) c.-23-72C>T (n.-23-72C>T) | gnomAD v4 |
| 14 | g.94383074G>C | CA390850648 | SERPINA1 | c.164C>G (p.Ala55Gly) c.-23-72C>G (n.-23-72C>G) | |
| 14 | g.94383074G>T | CA390850649 | SERPINA1 | c.164C>A (p.Ala55Asp) c.-23-72C>A (n.-23-72C>A) | |
| 14 | g.94383075C>A | CA390850650 | SERPINA1 | c.163G>T (p.Ala55Ser) c.-23-73G>T (n.-23-73G>T) | |
| 14 | g.94383075C= | CA2155954924 | SERPINA1 | c.163G= (p.Ala55=) c.-23-73G= (n.-23-73G=) | |
| 14 | g.94383075C>G | CA7327536 | SERPINA1 | c.163G>C (p.Ala55Pro) c.-23-73G>C (n.-23-73G>C) | dbSNP ExAC gnomAD v4 |
| 14 | g.94383075C>T | CA390850651 | SERPINA1 | c.163G>A (p.Ala55Thr) c.-23-73G>A (n.-23-73G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383076C>A | CA487841259 | SERPINA1 | c.162G>T (p.Leu54=) c.-23-74G>T (n.-23-74G>T) | |
| 14 | g.94383076C= | CA2155954926 | SERPINA1 | c.162G= (p.Leu54=) c.-23-74G= (n.-23-74G=) | |
| 14 | g.94383076C>G | CA265864188 | SERPINA1 | c.162G>C (p.Leu54=) c.-23-74G>C (n.-23-74G>C) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383076C>T | CA487841260 | SERPINA1 | c.162G>A (p.Leu54=) c.-23-74G>A (n.-23-74G>A) | |
| 14 | g.94383076_94383079delinsCAGG | CA2155954925 | SERPINA1 | c.159_162delinsCCTG (p.Asn53=) c.-23-77_-23-74delinsCCTG (n.-23-77_-23-74delinsCCTG) | |
| 14 | g.94383077A>C | CA390850652 | SERPINA1 | c.161T>G (p.Leu54Arg) c.-23-75T>G (n.-23-75T>G) | |
| 14 | g.94383077A>G | CA390850653 | SERPINA1 | c.161T>C (p.Leu54Pro) c.-23-75T>C (n.-23-75T>C) | |
| 14 | g.94383077A>T | CA390850654 | SERPINA1 | c.161T>A (p.Leu54Gln) c.-23-75T>A (n.-23-75T>A) | |
| 14 | g.94383077_94383079del | CA7327537 | SERPINA1 | c.159_161del (p.Asn53_Leu54delinsLys) c.-23-77_-23-75del (n.-23-77_-23-75del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383078G>A | CA265864191 | SERPINA1 | c.160C>T (p.Leu54=) c.-23-76C>T (n.-23-76C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383078G>C | CA390850656 | SERPINA1 | c.160C>G (p.Leu54Val) c.-23-76C>G (n.-23-76C>G) | |
| 14 | g.94383078G= | CA2155954927 | SERPINA1 | c.160C= (p.Leu54=) c.-23-76C= (n.-23-76C=) | |
| 14 | g.94383078G>T | CA390850655 | SERPINA1 | c.160C>A (p.Leu54Met) c.-23-76C>A (n.-23-76C>A) | |
| 14 | g.94383079G>A | CA487841262 | SERPINA1 | c.159C>T (p.Asn53=) c.-23-77C>T (n.-23-77C>T) | |
| 14 | g.94383079G>C | CA390850657 | SERPINA1 | c.159C>G (p.Asn53Lys) c.-23-77C>G (n.-23-77C>G) | |
| 14 | g.94383079G>T | CA390850658 | SERPINA1 | c.159C>A (p.Asn53Lys) c.-23-77C>A (n.-23-77C>A) | gnomAD v4 |
| 14 | g.94383080T>A | CA390850659 | SERPINA1 | c.158A>T (p.Asn53Ile) c.-23-78A>T (n.-23-78A>T) | dbSNP |
| 14 | g.94383080T>C | CA265864192 | SERPINA1 | c.158A>G (p.Asn53Ser) c.-23-78A>G (n.-23-78A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383080T>G | CA390850660 | SERPINA1 | c.158A>C (p.Asn53Thr) c.-23-78A>C (n.-23-78A>C) | |
| 14 | g.94383080T= | CA2155954928 | SERPINA1 | c.158A= (p.Asn53=) c.-23-78A= (n.-23-78A=) | |
| 14 | g.94383081T>A | CA390850661 | SERPINA1 | c.157A>T (p.Asn53Tyr) c.-23-79A>T (n.-23-79A>T) | |
| 14 | g.94383081T>C | CA390850662 | SERPINA1 | c.157A>G (p.Asn53Asp) c.-23-79A>G (n.-23-79A>G) | gnomAD v4 |
| 14 | g.94383081T>G | CA390850663 | SERPINA1 | c.157A>C (p.Asn53His) c.-23-79A>C (n.-23-79A>C) | |
| 14 | g.94383082G>A | CA487841267 | SERPINA1 | c.156C>T (p.Pro52=) c.-23-80C>T (n.-23-80C>T) | COSMIC |
| 14 | g.94383082G>C | CA487841268 | SERPINA1 | c.156C>G (p.Pro52=) c.-23-80C>G (n.-23-80C>G) | |
| 14 | g.94383082G= | CA2155954929 | SERPINA1 | c.156C= (p.Pro52=) c.-23-80C= (n.-23-80C=) | |
| 14 | g.94383082G>T | CA487841270 | SERPINA1 | c.156C>A (p.Pro52=) c.-23-80C>A (n.-23-80C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383086del | CA645582241 | SERPINA1 | c.156del (p.Asn53ThrfsTer27) c.-23-80del (n.-23-80del) | COSMIC |
| 14 | g.94383083G>A | CA265864194 | SERPINA1 | c.155C>T (p.Pro52Leu) c.-23-81C>T (n.-23-81C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383083G>C | CA390850664 | SERPINA1 | c.155C>G (p.Pro52Arg) c.-23-81C>G (n.-23-81C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383083G= | CA2155954930 | SERPINA1 | c.155C= (p.Pro52=) c.-23-81C= (n.-23-81C=) | |
| 14 | g.94383083G>T | CA390850665 | SERPINA1 | c.155C>A (p.Pro52His) c.-23-81C>A (n.-23-81C>A) | |
| 14 | g.94383084G>A | CA390850666 | SERPINA1 | c.154C>T (p.Pro52Ser) c.-23-82C>T (n.-23-82C>T) | |
| 14 | g.94383084G>C | CA390850667 | SERPINA1 | c.154C>G (p.Pro52Ala) c.-23-82C>G (n.-23-82C>G) | dbSNP |
| 14 | g.94383084G= | CA2155954931 | SERPINA1 | c.154C= (p.Pro52=) c.-23-82C= (n.-23-82C=) | |
| 14 | g.94383084G>T | CA390850668 | SERPINA1 | c.154C>A (p.Pro52Thr) c.-23-82C>A (n.-23-82C>A) | |
| 14 | g.94383085G>A | CA487841274 | SERPINA1 | c.153C>T (p.Thr51=) c.-23-83C>T (n.-23-83C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383085G>C | CA487841276 | SERPINA1 | c.153C>G (p.Thr51=) c.-23-83C>G (n.-23-83C>G) | |
| 14 | g.94383085G= | CA2155954932 | SERPINA1 | c.153C= (p.Thr51=) c.-23-83C= (n.-23-83C=) | |
| 14 | g.94383085G>T | CA487841275 | SERPINA1 | c.153C>A (p.Thr51=) c.-23-83C>A (n.-23-83C>A) | |
| 14 | g.94383086G>A | CA390850671 | SERPINA1 | c.152C>T (p.Thr51Ile) c.-23-84C>T (n.-23-84C>T) | gnomAD v4 COSMIC |
| 14 | g.94383086G>C | CA390850670 | SERPINA1 | c.152C>G (p.Thr51Ser) c.-23-84C>G (n.-23-84C>G) | |
| 14 | g.94383086G>T | CA390850669 | SERPINA1 | c.152C>A (p.Thr51Asn) c.-23-84C>A (n.-23-84C>A) | |
| 14 | g.94383087T>A | CA390850672 | SERPINA1 | c.151A>T (p.Thr51Ser) c.-23-85A>T (n.-23-85A>T) | |
| 14 | g.94383087T>C | CA390850673 | SERPINA1 | c.151A>G (p.Thr51Ala) c.-23-85A>G (n.-23-85A>G) | |
| 14 | g.94383087T>G | CA390850674 | SERPINA1 | c.151A>C (p.Thr51Pro) c.-23-85A>C (n.-23-85A>C) | dbSNP |
| 14 | g.94383087T= | CA2155954933 | SERPINA1 | c.151A= (p.Thr51=) c.-23-85A= (n.-23-85A=) | |
| 14 | g.94383088G>A | CA487841278 | SERPINA1 | c.150C>T (p.Ile50=) c.-23-86C>T (n.-23-86C>T) | |
| 14 | g.94383088G>C | CA390850675 | SERPINA1 | c.150C>G (p.Ile50Met) c.-23-86C>G (n.-23-86C>G) | |
| 14 | g.94383088G>T | CA487841280 | SERPINA1 | c.150C>A (p.Ile50=) c.-23-86C>A (n.-23-86C>A) | |
| 14 | g.94383089A>C | CA390850676 | SERPINA1 | c.149T>G (p.Ile50Ser) c.-23-87T>G (n.-23-87T>G) | |
| 14 | g.94383089A>G | CA390850677 | SERPINA1 | c.149T>C (p.Ile50Thr) c.-23-87T>C (n.-23-87T>C) | |
| 14 | g.94383089A>T | CA390850678 | SERPINA1 | c.149T>A (p.Ile50Asn) c.-23-87T>A (n.-23-87T>A) | |
| 14 | g.94383090T>A | CA390850679 | SERPINA1 | c.148A>T (p.Ile50Phe) c.-23-88A>T (n.-23-88A>T) | |
| 14 | g.94383090T>C | CA390850680 | SERPINA1 | c.148A>G (p.Ile50Val) c.-23-88A>G (n.-23-88A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383090T>G | CA265864195 | SERPINA1 | c.148A>C (p.Ile50Leu) c.-23-88A>C (n.-23-88A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383090T= | CA2155954934 | SERPINA1 | c.148A= (p.Ile50=) c.-23-88A= (n.-23-88A=) | |
| 14 | g.94383091C>A | CA390850681 | SERPINA1 | c.147G>T (p.Lys49Asn) c.-23-89G>T (n.-23-89G>T) | |
| 14 | g.94383091C>G | CA390850682 | SERPINA1 | c.147G>C (p.Lys49Asn) c.-23-89G>C (n.-23-89G>C) | |
| 14 | g.94383091C>T | CA487841284 | SERPINA1 | c.147G>A (p.Lys49=) c.-23-89G>A (n.-23-89G>A) | gnomAD v4 |
| 14 | g.94383092T>A | CA390850685 | SERPINA1 | c.146A>T (p.Lys49Met) c.-23-90A>T (n.-23-90A>T) | |
| 14 | g.94383092T>C | CA390850684 | SERPINA1 | c.146A>G (p.Lys49Arg) c.-23-90A>G (n.-23-90A>G) | |
| 14 | g.94383092T>G | CA390850683 | SERPINA1 | c.146A>C (p.Lys49Thr) c.-23-90A>C (n.-23-90A>C) | |
| 14 | g.94383093T>A | CA390850686 | SERPINA1 | c.145A>T (p.Lys49Ter) c.-23-91A>T (n.-23-91A>T) | |
| 14 | g.94383093T>C | CA390850687 | SERPINA1 | c.145A>G (p.Lys49Glu) c.-23-91A>G (n.-23-91A>G) | |
| 14 | g.94383093T>G | CA390850688 | SERPINA1 | c.145A>C (p.Lys49Gln) c.-23-91A>C (n.-23-91A>C) | |
| 14 | g.94383094G>A | CA487841287 | SERPINA1 | c.144C>T (p.Asn48=) c.-23-92C>T (n.-23-92C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383094G>C | CA390850689 | SERPINA1 | c.144C>G (p.Asn48Lys) c.-23-92C>G (n.-23-92C>G) | |
| 14 | g.94383094G= | CA2155954935 | SERPINA1 | c.144C= (p.Asn48=) c.-23-92C= (n.-23-92C=) | |
| 14 | g.94383094G>T | CA390850690 | SERPINA1 | c.144C>A (p.Asn48Lys) c.-23-92C>A (n.-23-92C>A) | |
| 14 | g.94383095T>A | CA390850691 | SERPINA1 | c.143A>T (p.Asn48Ile) c.-23-93A>T (n.-23-93A>T) | |
| 14 | g.94383095T>C | CA390850692 | SERPINA1 | c.143A>G (p.Asn48Ser) c.-23-93A>G (n.-23-93A>G) | gnomAD v4 |
| 14 | g.94383095T>G | CA390850693 | SERPINA1 | c.143A>C (p.Asn48Thr) c.-23-93A>C (n.-23-93A>C) | |
| 14 | g.94383096T>A | CA390850694 | SERPINA1 | c.142A>T (p.Asn48Tyr) c.-23-94A>T (n.-23-94A>T) | |
| 14 | g.94383096T>C | CA390850695 | SERPINA1 | c.142A>G (p.Asn48Asp) c.-23-94A>G (n.-23-94A>G) | |
| 14 | g.94383096T>G | CA390850696 | SERPINA1 | c.142A>C (p.Asn48His) c.-23-94A>C (n.-23-94A>C) | |
| 14 | g.94383097G>A | CA487841291 | SERPINA1 | c.141C>T (p.Phe47=) c.-23-95C>T (n.-23-95C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383097G>C | CA390850697 | SERPINA1 | c.141C>G (p.Phe47Leu) c.-23-95C>G (n.-23-95C>G) | |
| 14 | g.94383097G= | CA2155954936 | SERPINA1 | c.141C= (p.Phe47=) c.-23-95C= (n.-23-95C=) | |
| 14 | g.94383097G>T | CA390850698 | SERPINA1 | c.141C>A (p.Phe47Leu) c.-23-95C>A (n.-23-95C>A) | |
| 14 | g.94383098A>C | CA390850701 | SERPINA1 | c.140T>G (p.Phe47Cys) c.-23-96T>G (n.-23-96T>G) | |
| 14 | g.94383098A>G | CA390850699 | SERPINA1 | c.140T>C (p.Phe47Ser) c.-23-96T>C (n.-23-96T>C) | |
| 14 | g.94383098A>T | CA390850700 | SERPINA1 | c.140T>A (p.Phe47Tyr) c.-23-96T>A (n.-23-96T>A) | |
| 14 | g.94383099A= | CA2155954937 | SERPINA1 | c.139T= (p.Phe47=) c.-23-97T= (n.-23-97T=) | |
| 14 | g.94383099A>C | CA390850702 | SERPINA1 | c.139T>G (p.Phe47Val) c.-23-97T>G (n.-23-97T>G) | |
| 14 | g.94383099A>G | CA265864196 | SERPINA1 | c.139T>C (p.Phe47Leu) c.-23-97T>C (n.-23-97T>C) | dbSNP |
| 14 | g.94383099A>T | CA390850703 | SERPINA1 | c.139T>A (p.Phe47Ile) c.-23-97T>A (n.-23-97T>A) | |
| 14 | g.94383100G>A | CA487841293 | SERPINA1 | c.138C>T (p.Thr46=) c.-23-98C>T (n.-23-98C>T) | COSMIC |
| 14 | g.94383100G>C | CA265864198 | SERPINA1 | c.138C>G (p.Thr46=) c.-23-98C>G (n.-23-98C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383100G= | CA2155954938 | SERPINA1 | c.138C= (p.Thr46=) c.-23-98C= (n.-23-98C=) | |
| 14 | g.94383100G>T | CA487841294 | SERPINA1 | c.138C>A (p.Thr46=) c.-23-98C>A (n.-23-98C>A) | |
| 14 | g.94383101G>A | CA390850704 | SERPINA1 | c.137C>T (p.Thr46Ile) c.-23-99C>T (n.-23-99C>T) | gnomAD v4 |
| 14 | g.94383101G>C | CA390850705 | SERPINA1 | c.137C>G (p.Thr46Ser) c.-23-99C>G (n.-23-99C>G) | |
| 14 | g.94383101G= | CA2155954939 | SERPINA1 | c.137C= (p.Thr46=) c.-23-99C= (n.-23-99C=) | |
| 14 | g.94383101G>T | CA390850706 | SERPINA1 | c.137C>A (p.Thr46Asn) c.-23-99C>A (n.-23-99C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383102T>A | CA390850707 | SERPINA1 | c.136A>T (p.Thr46Ser) c.-23-100A>T (n.-23-100A>T) | |
| 14 | g.94383102T>C | CA390850708 | SERPINA1 | c.136A>G (p.Thr46Ala) c.-23-100A>G (n.-23-100A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383102T>G | CA390850709 | SERPINA1 | c.136A>C (p.Thr46Pro) c.-23-100A>C (n.-23-100A>C) | gnomAD v4 |
| 14 | g.94383102T= | CA2155954940 | SERPINA1 | c.136A= (p.Thr46=) c.-23-100A= (n.-23-100A=) | |
| 14 | g.94383103T>A | CA487841300 | SERPINA1 | c.135A>T (p.Pro45=) c.-23-101A>T (n.-23-101A>T) | |
| 14 | g.94383103T>C | CA487841301 | SERPINA1 | c.135A>G (p.Pro45=) c.-23-101A>G (n.-23-101A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383103T>G | CA487841302 | SERPINA1 | c.135A>C (p.Pro45=) c.-23-101A>C (n.-23-101A>C) | ClinVar dbSNP |
| 14 | g.94383103T= | CA2155954941 | SERPINA1 | c.135A= (p.Pro45=) c.-23-101A= (n.-23-101A=) | |
| 14 | g.94383104G>A | CA7327538 | SERPINA1 | c.134C>T (p.Pro45Leu) c.-23-102C>T (n.-23-102C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383104G>C | CA390850710 | SERPINA1 | c.134C>G (p.Pro45Arg) c.-23-102C>G (n.-23-102C>G) | |
| 14 | g.94383104G= | CA2155954942 | SERPINA1 | c.134C= (p.Pro45=) c.-23-102C= (n.-23-102C=) | |
| 14 | g.94383104G>T | CA390850711 | SERPINA1 | c.134C>A (p.Pro45Gln) c.-23-102C>A (n.-23-102C>A) | |
| 14 | g.94383105G>A | CA390850714 | SERPINA1 | c.133C>T (p.Pro45Ser) c.-23-103C>T (n.-23-103C>T) | gnomAD v4 |
| 14 | g.94383105G>C | CA390850713 | SERPINA1 | c.133C>G (p.Pro45Ala) c.-23-103C>G (n.-23-103C>G) | |
| 14 | g.94383105G= | CA2155954943 | SERPINA1 | c.133C= (p.Pro45=) c.-23-103C= (n.-23-103C=) | |
| 14 | g.94383105G>T | CA390850712 | SERPINA1 | c.133C>A (p.Pro45Thr) c.-23-103C>A (n.-23-103C>A) | dbSNP |
| 14 | g.94383106G>A | CA487841307 | SERPINA1 | c.132C>T (p.His44=) c.-23-104C>T (n.-23-104C>T) | |
| 14 | g.94383106G>C | CA390850715 | SERPINA1 | c.132C>G (p.His44Gln) c.-23-104C>G (n.-23-104C>G) | |
| 14 | g.94383106G= | CA2155954944 | SERPINA1 | c.132C= (p.His44=) c.-23-104C= (n.-23-104C=) | |
| 14 | g.94383106G>T | CA390850716 | SERPINA1 | c.132C>A (p.His44Gln) c.-23-104C>A (n.-23-104C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383107T>A | CA390850717 | SERPINA1 | c.131A>T (p.His44Leu) c.-23-105A>T (n.-23-105A>T) | |
| 14 | g.94383107T>C | CA390850719 | SERPINA1 | c.131A>G (p.His44Arg) c.-23-105A>G (n.-23-105A>G) | |
| 14 | g.94383107T>G | CA390850718 | SERPINA1 | c.131A>C (p.His44Pro) c.-23-105A>C (n.-23-105A>C) | gnomAD v4 |
| 14 | g.94383108G>A | CA390850720 | SERPINA1 | c.130C>T (p.His44Tyr) c.-23-106C>T (n.-23-106C>T) | gnomAD v4 |
| 14 | g.94383108G>C | CA390850721 | SERPINA1 | c.130C>G (p.His44Asp) c.-23-106C>G (n.-23-106C>G) | |
| 14 | g.94383108G>T | CA390850722 | SERPINA1 | c.130C>A (p.His44Asn) c.-23-106C>A (n.-23-106C>A) | |
| 14 | g.94383109A= | CA2155954945 | SERPINA1 | c.129T= (p.Asp43=) c.-23-107T= (n.-23-107T=) | |
| 14 | g.94383109A>C | CA390850723 | SERPINA1 | c.129T>G (p.Asp43Glu) c.-23-107T>G (n.-23-107T>G) | dbSNP |
| 14 | g.94383109A>G | CA265864200 | SERPINA1 | c.129T>C (p.Asp43=) c.-23-107T>C (n.-23-107T>C) | dbSNP |
| 14 | g.94383109A>T | CA7327539 | SERPINA1 | c.129T>A (p.Asp43Glu) c.-23-107T>A (n.-23-107T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383110T>A | CA390850724 | SERPINA1 | c.128A>T (p.Asp43Val) c.-23-108A>T (n.-23-108A>T) | |
| 14 | g.94383110T>C | CA390850725 | SERPINA1 | c.128A>G (p.Asp43Gly) c.-23-108A>G (n.-23-108A>G) | |
| 14 | g.94383110T>G | CA390850726 | SERPINA1 | c.128A>C (p.Asp43Ala) c.-23-108A>C (n.-23-108A>C) | dbSNP gnomAD v4 |
| 14 | g.94383110T= | CA2155954946 | SERPINA1 | c.128A= (p.Asp43=) c.-23-108A= (n.-23-108A=) | |
| 14 | g.94383111C>A | CA390850727 | SERPINA1 | c.127G>T (p.Asp43Tyr) c.-23-109G>T (n.-23-109G>T) | |
| 14 | g.94383111C>G | CA390850728 | SERPINA1 | c.127G>C (p.Asp43His) c.-23-109G>C (n.-23-109G>C) | |
| 14 | g.94383111C>T | CA390850729 | SERPINA1 | c.127G>A (p.Asp43Asn) c.-23-109G>A (n.-23-109G>A) | |
| 14 | g.94383112C>A | CA390850731 | SERPINA1 | c.126G>T (p.Gln42His) c.-23-110G>T (n.-23-110G>T) | |
| 14 | g.94383112C>G | CA390850730 | SERPINA1 | c.126G>C (p.Gln42His) c.-23-110G>C (n.-23-110G>C) | |
| 14 | g.94383112C>T | CA487841315 | SERPINA1 | c.126G>A (p.Gln42=) c.-23-110G>A (n.-23-110G>A) | COSMIC |
| 14 | g.94383113T>A | CA390850732 | SERPINA1 | c.125A>T (p.Gln42Leu) c.-23-111A>T (n.-23-111A>T) | |
| 14 | g.94383113T>C | CA390850733 | SERPINA1 | c.125A>G (p.Gln42Arg) c.-23-111A>G (n.-23-111A>G) | |
| 14 | g.94383113T>G | CA390850734 | SERPINA1 | c.125A>C (p.Gln42Pro) c.-23-111A>C (n.-23-111A>C) | |
| 14 | g.94383114G>A | CA390850735 | SERPINA1 | c.124C>T (p.Gln42Ter) c.-23-112C>T (n.-23-112C>T) | |
| 14 | g.94383114G>C | CA390850736 | SERPINA1 | c.124C>G (p.Gln42Glu) c.-23-112C>G (n.-23-112C>G) | |
| 14 | g.94383114G>T | CA390850737 | SERPINA1 | c.124C>A (p.Gln42Lys) c.-23-112C>A (n.-23-112C>A) | |
| 14 | g.94383115A>C | CA390850738 | SERPINA1 | c.123T>G (p.Asp41Glu) c.-23-113T>G (n.-23-113T>G) | |
| 14 | g.94383115A>G | CA487841320 | SERPINA1 | c.123T>C (p.Asp41=) c.-23-113T>C (n.-23-113T>C) | ClinVar gnomAD v4 |
| 14 | g.94383115A>T | CA390850739 | SERPINA1 | c.123T>A (p.Asp41Glu) c.-23-113T>A (n.-23-113T>A) | |
| 14 | g.94383116T>A | CA390850740 | SERPINA1 | c.122A>T (p.Asp41Val) c.-23-114A>T (n.-23-114A>T) | |
| 14 | g.94383116T>C | CA390850741 | SERPINA1 | c.122A>G (p.Asp41Gly) c.-23-114A>G (n.-23-114A>G) | gnomAD v4 |
| 14 | g.94383116T>G | CA390850742 | SERPINA1 | c.122A>C (p.Asp41Ala) c.-23-114A>C (n.-23-114A>C) | |
| 14 | g.94383117C>A | CA390850745 | SERPINA1 | c.121G>T (p.Asp41Tyr) c.-23-115G>T (n.-23-115G>T) | |
| 14 | g.94383117C>G | CA390850744 | SERPINA1 | c.121G>C (p.Asp41His) c.-23-115G>C (n.-23-115G>C) | |
| 14 | g.94383117C>T | CA390850743 | SERPINA1 | c.121G>A (p.Asp41Asn) c.-23-115G>A (n.-23-115G>A) | |
| 14 | g.94383118A= | CA2155954947 | SERPINA1 | c.120T= (p.His40=) c.-23-116T= (n.-23-116T=) | |
| 14 | g.94383118A>C | CA390850746 | SERPINA1 | c.120T>G (p.His40Gln) c.-23-116T>G (n.-23-116T>G) | |
| 14 | g.94383118A>G | CA7327540 | SERPINA1 | c.120T>C (p.His40=) c.-23-116T>C (n.-23-116T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383118A>T | CA390850747 | SERPINA1 | c.120T>A (p.His40Gln) c.-23-116T>A (n.-23-116T>A) | |
| 14 | g.94383119T>A | CA390850748 | SERPINA1 | c.119A>T (p.His40Leu) c.-23-117A>T (n.-23-117A>T) | |
| 14 | g.94383119T>C | CA7327541 | SERPINA1 | c.119A>G (p.His40Arg) c.-23-117A>G (n.-23-117A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383119T>G | CA390850749 | SERPINA1 | c.119A>C (p.His40Pro) c.-23-117A>C (n.-23-117A>C) | |
| 14 | g.94383119T= | CA2155954948 | SERPINA1 | c.119A= (p.His40=) c.-23-117A= (n.-23-117A=) | |
| 14 | g.94383120G>A | CA390850750 | SERPINA1 | c.118C>T (p.His40Tyr) c.-23-118C>T (n.-23-118C>T) | |
| 14 | g.94383120G>C | CA390850751 | SERPINA1 | c.118C>G (p.His40Asp) c.-23-118C>G (n.-23-118C>G) | |
| 14 | g.94383120G>T | CA390850752 | SERPINA1 | c.118C>A (p.His40Asn) c.-23-118C>A (n.-23-118C>A) | |
| 14 | g.94383121G>A | CA487841328 | SERPINA1 | c.117C>T (p.His39=) c.-23-119C>T (n.-23-119C>T) | |
| 14 | g.94383121G>C | CA390850753 | SERPINA1 | c.117C>G (p.His39Gln) c.-23-119C>G (n.-23-119C>G) | |
| 14 | g.94383121G>T | CA390850754 | SERPINA1 | c.117C>A (p.His39Gln) c.-23-119C>A (n.-23-119C>A) | |
| 14 | g.94383122T>A | CA390850757 | SERPINA1 | c.116A>T (p.His39Leu) c.-23-120A>T (n.-23-120A>T) | |
| 14 | g.94383122T>C | CA390850756 | SERPINA1 | c.116A>G (p.His39Arg) c.-23-120A>G (n.-23-120A>G) | gnomAD v4 |
| 14 | g.94383122T>G | CA390850755 | SERPINA1 | c.116A>C (p.His39Pro) c.-23-120A>C (n.-23-120A>C) | |
| 14 | g.94383123G>A | CA390850758 | SERPINA1 | c.115C>T (p.His39Tyr) c.-23-121C>T (n.-23-121C>T) | ClinVar gnomAD v4 |
| 14 | g.94383123G>C | CA390850759 | SERPINA1 | c.115C>G (p.His39Asp) c.-23-121C>G (n.-23-121C>G) | |
| 14 | g.94383123G= | CA2155954949 | SERPINA1 | c.115C= (p.His39=) c.-23-121C= (n.-23-121C=) | |
| 14 | g.94383123G>T | CA7327542 | SERPINA1 | c.115C>A (p.His39Asn) c.-23-121C>A (n.-23-121C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383124G>A | CA487841332 | SERPINA1 | c.114C>T (p.Ser38=) c.-23-122C>T (n.-23-122C>T) | gnomAD v4 |
| 14 | g.94383124G>C | CA487841334 | SERPINA1 | c.114C>G (p.Ser38=) c.-23-122C>G (n.-23-122C>G) | gnomAD v4 |
| 14 | g.94383124G>T | CA487841335 | SERPINA1 | c.114C>A (p.Ser38=) c.-23-122C>A (n.-23-122C>A) | |
| 14 | g.94383125G>A | CA7327543 | SERPINA1 | c.113C>T (p.Ser38Phe) c.-23-123C>T (n.-23-123C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383125G>C | CA390850760 | SERPINA1 | c.113C>G (p.Ser38Cys) c.-23-123C>G (n.-23-123C>G) | gnomAD v4 |
| 14 | g.94383125G= | CA2155954950 | SERPINA1 | c.113C= (p.Ser38=) c.-23-123C= (n.-23-123C=) | |
| 14 | g.94383125G>T | CA390850761 | SERPINA1 | c.113C>A (p.Ser38Tyr) c.-23-123C>A (n.-23-123C>A) | |
| 14 | g.94383126A= | CA2155954951 | SERPINA1 | c.112T= (p.Ser38=) c.-23-124T= (n.-23-124T=) | |
| 14 | g.94383126A>C | CA390850762 | SERPINA1 | c.112T>G (p.Ser38Ala) c.-23-124T>G (n.-23-124T>G) | |
| 14 | g.94383126A>G | CA390850763 | SERPINA1 | c.112T>C (p.Ser38Pro) c.-23-124T>C (n.-23-124T>C) | gnomAD v4 |
| 14 | g.94383126A>T | CA7327544 | SERPINA1 | c.112T>A (p.Ser38Thr) c.-23-124T>A (n.-23-124T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383127T>A | CA487841337 | SERPINA1 | c.111A>T (p.Thr37=) c.-23-125A>T (n.-23-125A>T) | |
| 14 | g.94383127T>C | CA7327545 | SERPINA1 | c.111A>G (p.Thr37=) c.-23-125A>G (n.-23-125A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383127T>G | CA487841336 | SERPINA1 | c.111A>C (p.Thr37=) c.-23-125A>C (n.-23-125A>C) | |
| 14 | g.94383127T= | CA2155954952 | SERPINA1 | c.111A= (p.Thr37=) c.-23-125A= (n.-23-125A=) | |
| 14 | g.94383128G>A | CA390850764 | SERPINA1 | c.110C>T (p.Thr37Ile) c.-23-126C>T (n.-23-126C>T) | |
| 14 | g.94383128G>C | CA390850765 | SERPINA1 | c.110C>G (p.Thr37Arg) c.-23-126C>G (n.-23-126C>G) | |
| 14 | g.94383128G>T | CA390850766 | SERPINA1 | c.110C>A (p.Thr37Lys) c.-23-126C>A (n.-23-126C>A) | |
| 14 | g.94383129T>A | CA390850768 | SERPINA1 | c.109A>T (p.Thr37Ser) c.-23-127A>T (n.-23-127A>T) | |
| 14 | g.94383129T>C | CA265864205 | SERPINA1 | c.109A>G (p.Thr37Ala) c.-23-127A>G (n.-23-127A>G) | dbSNP |
| 14 | g.94383129T>G | CA390850767 | SERPINA1 | c.109A>C (p.Thr37Pro) c.-23-127A>C (n.-23-127A>C) | |
| 14 | g.94383129T= | CA2155954953 | SERPINA1 | c.109A= (p.Thr37=) c.-23-127A= (n.-23-127A=) | |
| 14 | g.94383130A= | CA2155954954 | SERPINA1 | c.108T= (p.Asp36=) c.-23-128T= (n.-23-128T=) | |
| 14 | g.94383130A>C | CA390850770 | SERPINA1 | c.108T>G (p.Asp36Glu) c.-23-128T>G (n.-23-128T>G) | |
| 14 | g.94383130A>G | CA7327546 | SERPINA1 | c.108T>C (p.Asp36=) c.-23-128T>C (n.-23-128T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383130A>T | CA390850769 | SERPINA1 | c.108T>A (p.Asp36Glu) c.-23-128T>A (n.-23-128T>A) | gnomAD v4 |
| 14 | g.94383134_94383151del | CA2626310192 | SERPINA1 | c.91_108del (p.Ala31_Asp36del) c.-23-145_-23-128del (n.-23-145_-23-128del) | gnomAD v4 |
| 14 | g.94383131T>A | CA390850771 | SERPINA1 | c.107A>T (p.Asp36Val) c.-23-129A>T (n.-23-129A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383131T>C | CA390850772 | SERPINA1 | c.107A>G (p.Asp36Gly) c.-23-129A>G (n.-23-129A>G) | gnomAD v4 |
| 14 | g.94383131T>G | CA390850773 | SERPINA1 | c.107A>C (p.Asp36Ala) c.-23-129A>C (n.-23-129A>C) | |
| 14 | g.94383131T= | CA2155954955 | SERPINA1 | c.107A= (p.Asp36=) c.-23-129A= (n.-23-129A=) | |
| 14 | g.94383132C>A | CA390850774 | SERPINA1 | c.106G>T (p.Asp36Tyr) c.-23-130G>T (n.-23-130G>T) | |
| 14 | g.94383132C>G | CA390850775 | SERPINA1 | c.106G>C (p.Asp36His) c.-23-130G>C (n.-23-130G>C) | |
| 14 | g.94383132C>T | CA390850776 | SERPINA1 | c.106G>A (p.Asp36Asn) c.-23-130G>A (n.-23-130G>A) | |
| 14 | g.94383133T>A | CA487841346 | SERPINA1 | c.105A>T (p.Thr35=) c.-23-131A>T (n.-23-131A>T) | |
| 14 | g.94383133T>C | CA265864207 | SERPINA1 | c.105A>G (p.Thr35=) c.-23-131A>G (n.-23-131A>G) | dbSNP |
| 14 | g.94383133T>G | CA487841344 | SERPINA1 | c.105A>C (p.Thr35=) c.-23-131A>C (n.-23-131A>C) | |
| 14 | g.94383133T= | CA2155954956 | SERPINA1 | c.105A= (p.Thr35=) c.-23-131A= (n.-23-131A=) | |
| 14 | g.94383134G>A | CA390850777 | SERPINA1 | c.104C>T (p.Thr35Ile) c.-23-132C>T (n.-23-132C>T) | |
| 14 | g.94383134G>C | CA390850778 | SERPINA1 | c.104C>G (p.Thr35Arg) c.-23-132C>G (n.-23-132C>G) | dbSNP |
| 14 | g.94383134G= | CA2155954957 | SERPINA1 | c.104C= (p.Thr35=) c.-23-132C= (n.-23-132C=) | |
| 14 | g.94383134G>T | CA390850779 | SERPINA1 | c.104C>A (p.Thr35Lys) c.-23-132C>A (n.-23-132C>A) | gnomAD v4 |
| 14 | g.94383135T>A | CA390850781 | SERPINA1 | c.103A>T (p.Thr35Ser) c.-23-133A>T (n.-23-133A>T) | |
| 14 | g.94383135T>C | CA390850782 | SERPINA1 | c.103A>G (p.Thr35Ala) c.-23-133A>G (n.-23-133A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383135T>G | CA390850780 | SERPINA1 | c.103A>C (p.Thr35Pro) c.-23-133A>C (n.-23-133A>C) | |
| 14 | g.94383135T= | CA2155954958 | SERPINA1 | c.103A= (p.Thr35=) c.-23-133A= (n.-23-133A=) | |
| 14 | g.94383136C>A | CA349194 | SERPINA1 | c.102G>T (p.Lys34Asn) c.-23-134G>T (n.-23-134G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383136C= | CA2155954959 | SERPINA1 | c.102G= (p.Lys34=) c.-23-134G= (n.-23-134G=) | |
| 14 | g.94383136C>G | CA390850783 | SERPINA1 | c.102G>C (p.Lys34Asn) c.-23-134G>C (n.-23-134G>C) | |
| 14 | g.94383136C>T | CA487841349 | SERPINA1 | c.102G>A (p.Lys34=) c.-23-134G>A (n.-23-134G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383137T>A | CA390850784 | SERPINA1 | c.101A>T (p.Lys34Met) c.-23-135A>T (n.-23-135A>T) | |
| 14 | g.94383137T>C | CA390850785 | SERPINA1 | c.101A>G (p.Lys34Arg) c.-23-135A>G (n.-23-135A>G) | |
| 14 | g.94383137T>G | CA390850786 | SERPINA1 | c.101A>C (p.Lys34Thr) c.-23-135A>C (n.-23-135A>C) | |
| 14 | g.94383138T>A | CA390850788 | SERPINA1 | c.100A>T (p.Lys34Ter) c.-23-136A>T (n.-23-136A>T) | |
| 14 | g.94383138T>C | CA390850787 | SERPINA1 | c.100A>G (p.Lys34Glu) c.-23-136A>G (n.-23-136A>G) | |
| 14 | g.94383138T>G | CA7327547 | SERPINA1 | c.100A>C (p.Lys34Gln) c.-23-136A>C (n.-23-136A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383138T= | CA2155954960 | SERPINA1 | c.100A= (p.Lys34=) c.-23-136A= (n.-23-136A=) | |
| 14 | g.94383139C>A | CA390850789 | SERPINA1 | c.99G>T (p.Gln33His) c.-23-137G>T (n.-23-137G>T) | |
| 14 | g.94383139C= | CA2155954961 | SERPINA1 | c.99G= (p.Gln33=) c.-23-137G= (n.-23-137G=) | |
| 14 | g.94383139C>G | CA390850790 | SERPINA1 | c.99G>C (p.Gln33His) c.-23-137G>C (n.-23-137G>C) | |
| 14 | g.94383139C>T | CA487841350 | SERPINA1 | c.99G>A (p.Gln33=) c.-23-137G>A (n.-23-137G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383140T>A | CA390850791 | SERPINA1 | c.98A>T (p.Gln33Leu) c.-23-138A>T (n.-23-138A>T) | |
| 14 | g.94383140T>C | CA390850792 | SERPINA1 | c.98A>G (p.Gln33Arg) c.-23-138A>G (n.-23-138A>G) | |
| 14 | g.94383140T>G | CA390850793 | SERPINA1 | c.98A>C (p.Gln33Pro) c.-23-138A>C (n.-23-138A>C) | |
| 14 | g.94383141G>A | CA390850796 | SERPINA1 | c.97C>T (p.Gln33Ter) c.-23-139C>T (n.-23-139C>T) | |
| 14 | g.94383141G>C | CA390850795 | SERPINA1 | c.97C>G (p.Gln33Glu) c.-23-139C>G (n.-23-139C>G) | |
| 14 | g.94383141G>T | CA390850794 | SERPINA1 | c.97C>A (p.Gln33Lys) c.-23-139C>A (n.-23-139C>A) | |
| 14 | g.94383142G>A | CA487841355 | SERPINA1 | c.96C>T (p.Ala32=) c.-23-140C>T (n.-23-140C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383142G>C | CA487841356 | SERPINA1 | c.96C>G (p.Ala32=) c.-23-140C>G (n.-23-140C>G) | |
| 14 | g.94383142G= | CA2155954962 | SERPINA1 | c.96C= (p.Ala32=) c.-23-140C= (n.-23-140C=) | |
| 14 | g.94383142G>T | CA487841357 | SERPINA1 | c.96C>A (p.Ala32=) c.-23-140C>A (n.-23-140C>A) | |
| 14 | g.94383143G>A | CA390850797 | SERPINA1 | c.95C>T (p.Ala32Val) c.-23-141C>T (n.-23-141C>T) | |
| 14 | g.94383143G>C | CA390850799 | SERPINA1 | c.95C>G (p.Ala32Gly) c.-23-141C>G (n.-23-141C>G) | |
| 14 | g.94383143G>T | CA390850798 | SERPINA1 | c.95C>A (p.Ala32Asp) c.-23-141C>A (n.-23-141C>A) | |
| 14 | g.94383144C>A | CA390850800 | SERPINA1 | c.94G>T (p.Ala32Ser) c.-23-142G>T (n.-23-142G>T) | |
| 14 | g.94383144C>G | CA390850801 | SERPINA1 | c.94G>C (p.Ala32Pro) c.-23-142G>C (n.-23-142G>C) | |
| 14 | g.94383144C>T | CA390850802 | SERPINA1 | c.94G>A (p.Ala32Thr) c.-23-142G>A (n.-23-142G>A) | |
| 14 | g.94383145A>C | CA487841358 | SERPINA1 | c.93T>G (p.Ala31=) c.-23-143T>G (n.-23-143T>G) | |
| 14 | g.94383145A>G | CA487841360 | SERPINA1 | c.93T>C (p.Ala31=) c.-23-143T>C (n.-23-143T>C) | |
| 14 | g.94383145A>T | CA487841361 | SERPINA1 | c.93T>A (p.Ala31=) c.-23-143T>A (n.-23-143T>A) | |
| 14 | g.94383146G>A | CA390850803 | SERPINA1 | c.92C>T (p.Ala31Val) c.-23-144C>T (n.-23-144C>T) | |
| 14 | g.94383146G>C | CA390850804 | SERPINA1 | c.92C>G (p.Ala31Gly) c.-23-144C>G (n.-23-144C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383146G= | CA2155954963 | SERPINA1 | c.92C= (p.Ala31=) c.-23-144C= (n.-23-144C=) | |
| 14 | g.94383146G>T | CA390850805 | SERPINA1 | c.92C>A (p.Ala31Asp) c.-23-144C>A (n.-23-144C>A) | gnomAD v4 |
| 14 | g.94383147C>A | CA390850806 | SERPINA1 | c.91G>T (p.Ala31Ser) c.-23-145G>T (n.-23-145G>T) | |
| 14 | g.94383147C= | CA2155954964 | SERPINA1 | c.91G= (p.Ala31=) c.-23-145G= (n.-23-145G=) | |
| 14 | g.94383147C>G | CA390850807 | SERPINA1 | c.91G>C (p.Ala31Pro) c.-23-145G>C (n.-23-145G>C) | dbSNP |
| 14 | g.94383147C>T | CA390850808 | SERPINA1 | c.91G>A (p.Ala31Thr) c.-23-145G>A (n.-23-145G>A) | |
| 14 | g.94383148A>C | CA390850809 | SERPINA1 | c.90T>G (p.Asp30Glu) c.-23-146T>G (n.-23-146T>G) | |
| 14 | g.94383148A>G | CA487841365 | SERPINA1 | c.90T>C (p.Asp30=) c.-23-146T>C (n.-23-146T>C) | gnomAD v4 |
| 14 | g.94383148A>T | CA390850810 | SERPINA1 | c.90T>A (p.Asp30Glu) c.-23-146T>A (n.-23-146T>A) | |
| 14 | g.94383149T>A | CA348584 | SERPINA1 | c.89A>T (p.Asp30Val) c.-23-147A>T (n.-23-147A>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383149T>C | CA390850812 | SERPINA1 | c.89A>G (p.Asp30Gly) c.-23-147A>G (n.-23-147A>G) | |
| 14 | g.94383149T>G | CA390850811 | SERPINA1 | c.89A>C (p.Asp30Ala) c.-23-147A>C (n.-23-147A>C) | |
| 14 | g.94383149T= | CA2155954965 | SERPINA1 | c.89A= (p.Asp30=) c.-23-147A= (n.-23-147A=) | |
| 14 | g.94383150C>A | CA390850813 | SERPINA1 | c.88G>T (p.Asp30Tyr) c.-23-148G>T (n.-23-148G>T) | |
| 14 | g.94383150C= | CA2155954966 | SERPINA1 | c.88G= (p.Asp30=) c.-23-148G= (n.-23-148G=) | |
| 14 | g.94383150C>G | CA390850814 | SERPINA1 | c.88G>C (p.Asp30His) c.-23-148G>C (n.-23-148G>C) | |
| 14 | g.94383150C>T | CA390850815 | SERPINA1 | c.88G>A (p.Asp30Asn) c.-23-148G>A (n.-23-148G>A) | dbSNP gnomAD v2 |
| 14 | g.94383151T>A | CA7327548 | SERPINA1 | c.87A>T (p.Gly29=) c.-23-149A>T (n.-23-149A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383151T>C | CA487841370 | SERPINA1 | c.87A>G (p.Gly29=) c.-23-149A>G (n.-23-149A>G) | |
| 14 | g.94383151T>G | CA487841371 | SERPINA1 | c.87A>C (p.Gly29=) c.-23-149A>C (n.-23-149A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383151T= | CA2155954967 | SERPINA1 | c.87A= (p.Gly29=) c.-23-149A= (n.-23-149A=) | |
| 14 | g.94383152C>A | CA390850816 | SERPINA1 | c.86G>T (p.Gly29Val) c.-23-150G>T (n.-23-150G>T) | |
| 14 | g.94383152C>G | CA390850817 | SERPINA1 | c.86G>C (p.Gly29Ala) c.-23-150G>C (n.-23-150G>C) | |
| 14 | g.94383152C>T | CA390850818 | SERPINA1 | c.86G>A (p.Gly29Glu) c.-23-150G>A (n.-23-150G>A) | gnomAD v4 |