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 |
|---|---|---|---|---|---|
| 11 | g.75568878T>C | CA2615177290 | SERPINH1 | c.721+49T>C (n.721+49T>C) c.70+49T>C (n.70+49T>C) | gnomAD v4 |
| 11 | g.75568878T>G | CA1983388726 | SERPINH1 | c.721+49T>G (n.721+49T>G) c.70+49T>G (n.70+49T>G) | dbSNP |
| 11 | g.75568878T= | CA1983388727 | SERPINH1 | c.721+49T= (n.721+49T=) c.70+49T= (n.70+49T=) | |
| 11 | g.75568879A= | CA1983388728 | SERPINH1 | c.721+50A= (n.721+50A=) c.70+50A= (n.70+50A=) | |
| 11 | g.75568879A>G | CA224683906 | SERPINH1 | c.721+50A>G (n.721+50A>G) c.70+50A>G (n.70+50A>G) | dbSNP gnomAD v4 |
| 11 | g.75568880G>A | CA2615177294 | SERPINH1 | c.721+51G>A (n.721+51G>A) c.70+51G>A (n.70+51G>A) | gnomAD v4 |
| 11 | g.75568880G>C | CA6190902 | SERPINH1 | c.721+51G>C (n.721+51G>C) c.70+51G>C (n.70+51G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568880G= | CA1983388729 | SERPINH1 | c.721+51G= (n.721+51G=) c.70+51G= (n.70+51G=) | |
| 11 | g.75568881T>G | CA2574927279 | SERPINH1 | c.721+52T>G (n.721+52T>G) c.70+52T>G (n.70+52T>G) | |
| 11 | g.75568882T>G | CA2574927280 | SERPINH1 | c.721+53T>G (n.721+53T>G) c.70+53T>G (n.70+53T>G) | |
| 11 | g.75568883G>A | CA2615177298 | SERPINH1 | c.721+54G>A (n.721+54G>A) c.70+54G>A (n.70+54G>A) | gnomAD v4 |
| 11 | g.75568884G>A | CA224683907 | SERPINH1 | c.722-55G>A (n.722-55G>A) c.71-55G>A (n.71-55G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568884G= | CA1983388730 | SERPINH1 | c.722-55G= (n.722-55G=) c.71-55G= (n.71-55G=) | |
| 11 | g.75568884G>T | CA2615177301 | SERPINH1 | c.722-55G>T (n.722-55G>T) c.71-55G>T (n.71-55G>T) | gnomAD v4 |
| 11 | g.75568885T>C | CA680258630 | SERPINH1 | c.722-54T>C (n.722-54T>C) c.71-54T>C (n.71-54T>C) | dbSNP |
| 11 | g.75568885T= | CA1983388731 | SERPINH1 | c.722-54T= (n.722-54T=) c.71-54T= (n.71-54T=) | |
| 11 | g.75568886C>G | CA2615177303 | SERPINH1 | c.722-53C>G (n.722-53C>G) c.71-53C>G (n.71-53C>G) | gnomAD v4 |
| 11 | g.75568888del | CA2615177305 | SERPINH1 | c.722-51del (n.722-51del) c.71-51del (n.71-51del) | gnomAD v4 |
| 11 | g.75568889A= | CA1983388732 | SERPINH1 | c.722-50A= (n.722-50A=) c.71-50A= (n.71-50A=) | |
| 11 | g.75568889A>C | CA6190903 | SERPINH1 | c.722-50A>C (n.722-50A>C) c.71-50A>C (n.71-50A>C) | dbSNP ExAC gnomAD v2 |
| 11 | g.75568891C>G | CA2574927281 | SERPINH1 | c.722-48C>G (n.722-48C>G) c.71-48C>G (n.71-48C>G) | |
| 11 | g.75568891C>T | CA2615177308 | SERPINH1 | c.722-48C>T (n.722-48C>T) c.71-48C>T (n.71-48C>T) | gnomAD v4 |
| 11 | g.75568893A= | CA1983388733 | SERPINH1 | c.722-46A= (n.722-46A=) c.71-46A= (n.71-46A=) | |
| 11 | g.75568893A>C | CA6190904 | SERPINH1 | c.722-46A>C (n.722-46A>C) c.71-46A>C (n.71-46A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568893A>T | CA1983388734 | SERPINH1 | c.722-46A>T (n.722-46A>T) c.71-46A>T (n.71-46A>T) | dbSNP |
| 11 | g.75568894C= | CA1983388735 | SERPINH1 | c.722-45C= (n.722-45C=) c.71-45C= (n.71-45C=) | |
| 11 | g.75568894C>T | CA224683924 | SERPINH1 | c.722-45C>T (n.722-45C>T) c.71-45C>T (n.71-45C>T) | dbSNP gnomAD v4 |
| 11 | g.75568895C>A | CA680258637 | SERPINH1 | c.722-44C>A (n.722-44C>A) c.71-44C>A (n.71-44C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568895C= | CA1983388736 | SERPINH1 | c.722-44C= (n.722-44C=) c.71-44C= (n.71-44C=) | |
| 11 | g.75568895C>T | CA654234570 | SERPINH1 | c.722-44C>T (n.722-44C>T) c.71-44C>T (n.71-44C>T) | COSMIC |
| 11 | g.75568896C>A | CA600709438 | SERPINH1 | c.722-43C>A (n.722-43C>A) c.71-43C>A (n.71-43C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568896C= | CA1983388737 | SERPINH1 | c.722-43C= (n.722-43C=) c.71-43C= (n.71-43C=) | |
| 11 | g.75568897C= | CA1983388738 | SERPINH1 | c.722-42C= (n.722-42C=) c.71-42C= (n.71-42C=) | |
| 11 | g.75568897C>G | CA6190905 | SERPINH1 | c.722-42C>G (n.722-42C>G) c.71-42C>G (n.71-42C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568897C>T | CA2615177316 | SERPINH1 | c.722-42C>T (n.722-42C>T) c.71-42C>T (n.71-42C>T) | gnomAD v4 |
| 11 | g.75568898T>C | CA6190906 | SERPINH1 | c.722-41T>C (n.722-41T>C) c.71-41T>C (n.71-41T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568898T= | CA1983388739 | SERPINH1 | c.722-41T= (n.722-41T=) c.71-41T= (n.71-41T=) | |
| 11 | g.75568902C>T | CA2615177323 | SERPINH1 | c.722-37C>T (n.722-37C>T) c.71-37C>T (n.71-37C>T) | gnomAD v4 |
| 11 | g.75568903A= | CA1983388740 | SERPINH1 | c.722-36A= (n.722-36A=) c.71-36A= (n.71-36A=) | |
| 11 | g.75568903A>G | CA1983388741 | SERPINH1 | c.722-36A>G (n.722-36A>G) c.71-36A>G (n.71-36A>G) | dbSNP |
| 11 | g.75568904C>A | CA2574927282 | SERPINH1 | c.722-35C>A (n.722-35C>A) c.71-35C>A (n.71-35C>A) | |
| 11 | g.75568904C>T | CA2615177325 | SERPINH1 | c.722-35C>T (n.722-35C>T) c.71-35C>T (n.71-35C>T) | gnomAD v4 |
| 11 | g.75568905A= | CA1983388742 | SERPINH1 | c.722-34A= (n.722-34A=) c.71-34A= (n.71-34A=) | |
| 11 | g.75568905A>G | CA1983388743 | SERPINH1 | c.722-34A>G (n.722-34A>G) c.71-34A>G (n.71-34A>G) | dbSNP gnomAD v4 |
| 11 | g.75568905_75568906del | CA2615177326 | SERPINH1 | c.722-34_722-33del (n.722-34_722-33del) c.71-34_71-33del (n.71-34_71-33del) | dbSNP gnomAD v4 |
| 11 | g.75568908G>A | CA600709439 | SERPINH1 | c.722-31G>A (n.722-31G>A) c.71-31G>A (n.71-31G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568908G= | CA1983388744 | SERPINH1 | c.722-31G= (n.722-31G=) c.71-31G= (n.71-31G=) | |
| 11 | g.75568910G>A | CA2615177332 | SERPINH1 | c.722-29G>A (n.722-29G>A) c.71-29G>A (n.71-29G>A) | gnomAD v4 |
| 11 | g.75568910G>C | CA6190907 | SERPINH1 | c.722-29G>C (n.722-29G>C) c.71-29G>C (n.71-29G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568910G= | CA1983388745 | SERPINH1 | c.722-29G= (n.722-29G=) c.71-29G= (n.71-29G=) | |
| 11 | g.75568910G>T | CA654234571 | SERPINH1 | c.722-29G>T (n.722-29G>T) c.71-29G>T (n.71-29G>T) | gnomAD v4 COSMIC |
| 11 | g.75568911C= | CA1983388746 | SERPINH1 | c.722-28C= (n.722-28C=) c.71-28C= (n.71-28C=) | |
| 11 | g.75568911C>G | CA600709440 | SERPINH1 | c.722-28C>G (n.722-28C>G) c.71-28C>G (n.71-28C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568911C>T | CA2574927283 | SERPINH1 | c.722-28C>T (n.722-28C>T) c.71-28C>T (n.71-28C>T) | |
| 11 | g.75568913C>A | CA2574927284 | SERPINH1 | c.722-26C>A (n.722-26C>A) c.71-26C>A (n.71-26C>A) | |
| 11 | g.75568913C>T | CA2599356240 | SERPINH1 | c.722-26C>T (n.722-26C>T) c.71-26C>T (n.71-26C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568915G>A | CA600709441 | SERPINH1 | c.722-24G>A (n.722-24G>A) c.71-24G>A (n.71-24G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568915G= | CA1983388747 | SERPINH1 | c.722-24G= (n.722-24G=) c.71-24G= (n.71-24G=) | |
| 11 | g.75568915G>T | CA2615177341 | SERPINH1 | c.722-24G>T (n.722-24G>T) c.71-24G>T (n.71-24G>T) | gnomAD v4 |
| 11 | g.75568916T>C | CA2574927285 | SERPINH1 | c.722-23T>C (n.722-23T>C) c.71-23T>C (n.71-23T>C) | gnomAD v4 |
| 11 | g.75568916T>G | CA224683950 | SERPINH1 | c.722-23T>G (n.722-23T>G) c.71-23T>G (n.71-23T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568916T= | CA1983388748 | SERPINH1 | c.722-23T= (n.722-23T=) c.71-23T= (n.71-23T=) | |
| 11 | g.75568917G>A | CA1983388749 | SERPINH1 | c.722-22G>A (n.722-22G>A) c.71-22G>A (n.71-22G>A) | dbSNP gnomAD v4 |
| 11 | g.75568917G= | CA1983388750 | SERPINH1 | c.722-22G= (n.722-22G=) c.71-22G= (n.71-22G=) | |
| 11 | g.75568917G>T | CA2741187944 | SERPINH1 | c.722-22G>T (n.722-22G>T) c.71-22G>T (n.71-22G>T) | |
| 11 | g.75568919C= | CA1983388751 | SERPINH1 | c.722-20C= (n.722-20C=) c.71-20C= (n.71-20C=) | |
| 11 | g.75568919C>G | CA600709442 | SERPINH1 | c.722-20C>G (n.722-20C>G) c.71-20C>G (n.71-20C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568920C= | CA1983388752 | SERPINH1 | c.722-19C= (n.722-19C=) c.71-19C= (n.71-19C=) | |
| 11 | g.75568920C>T | CA600709443 | SERPINH1 | c.722-19C>T (n.722-19C>T) c.71-19C>T (n.71-19C>T) | dbSNP gnomAD v2 |
| 11 | g.75568923T>C | CA2792739754 | SERPINH1 | c.722-16T>C (n.722-16T>C) c.71-16T>C (n.71-16T>C) | |
| 11 | g.75568924C= | CA1983388753 | SERPINH1 | c.722-15C= (n.722-15C=) c.71-15C= (n.71-15C=) | |
| 11 | g.75568924C>T | CA224683954 | SERPINH1 | c.722-15C>T (n.722-15C>T) c.71-15C>T (n.71-15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568925C= | CA1983388754 | SERPINH1 | c.722-14C= (n.722-14C=) c.71-14C= (n.71-14C=) | |
| 11 | g.75568925C>T | CA224683958 | SERPINH1 | c.722-14C>T (n.722-14C>T) c.71-14C>T (n.71-14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568926G>A | CA6190908 | SERPINH1 | c.722-13G>A (n.722-13G>A) c.71-13G>A (n.71-13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568926G= | CA1983388755 | SERPINH1 | c.722-13G= (n.722-13G=) c.71-13G= (n.71-13G=) | |
| 11 | g.75568926G>T | CA1983388756 | SERPINH1 | c.722-13G>T (n.722-13G>T) c.71-13G>T (n.71-13G>T) | dbSNP gnomAD v4 |
| 11 | g.75568927C= | CA1983388757 | SERPINH1 | c.722-12C= (n.722-12C=) c.71-12C= (n.71-12C=) | |
| 11 | g.75568927C>G | CA2741187945 | SERPINH1 | c.722-12C>G (n.722-12C>G) c.71-12C>G (n.71-12C>G) | |
| 11 | g.75568927C>T | CA6190909 | SERPINH1 | c.722-12C>T (n.722-12C>T) c.71-12C>T (n.71-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568928T>G | CA2792739756 | SERPINH1 | c.722-11T>G (n.722-11T>G) c.71-11T>G (n.71-11T>G) | |
| 11 | g.75568929C= | CA1983388758 | SERPINH1 | c.722-10C= (n.722-10C=) c.71-10C= (n.71-10C=) | |
| 11 | g.75568929C>G | CA2615177371 | SERPINH1 | c.722-10C>G (n.722-10C>G) c.71-10C>G (n.71-10C>G) | gnomAD v4 |
| 11 | g.75568929C>T | CA224683982 | SERPINH1 | c.722-10C>T (n.722-10C>T) c.71-10C>T (n.71-10C>T) | dbSNP gnomAD v4 |
| 11 | g.75568929_75568931delinsCCT | CA1983388759 | SERPINH1 | c.722-10_722-8delinsCCT (n.722-10_722-8delinsCCT) c.71-10_71-8delinsCCT (n.71-10_71-8delinsCCT) | |
| 11 | g.75568933_75568934del | CA680258696 | SERPINH1 | c.722-6_722-5del (n.722-6_722-5del) c.71-6_71-5del (n.71-6_71-5del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568932C= | CA1983388760 | SERPINH1 | c.722-7C= (n.722-7C=) c.71-7C= (n.71-7C=) | |
| 11 | g.75568932C>T | CA600709444 | SERPINH1 | c.722-7C>T (n.722-7C>T) c.71-7C>T (n.71-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568933T>A | CA2615177379 | SERPINH1 | c.722-6T>A (n.722-6T>A) c.71-6T>A (n.71-6T>A) | gnomAD v4 |
| 11 | g.75568933T>C | CA600709445 | SERPINH1 | c.722-6T>C (n.722-6T>C) c.71-6T>C (n.71-6T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568933T= | CA1983388761 | SERPINH1 | c.722-6T= (n.722-6T=) c.71-6T= (n.71-6T=) | |
| 11 | g.75568934C= | CA1983388762 | SERPINH1 | c.722-5C= (n.722-5C=) c.71-5C= (n.71-5C=) | |
| 11 | g.75568934C>G | CA1983388763 | SERPINH1 | c.722-5C>G (n.722-5C>G) c.71-5C>G (n.71-5C>G) | dbSNP |
| 11 | g.75568934C>T | CA600709446 | SERPINH1 | c.722-5C>T (n.722-5C>T) c.71-5C>T (n.71-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568936del | CA2574927286 | SERPINH1 | c.722-3del (n.722-3del) c.71-3del (n.71-3del) | |
| 11 | g.75568935C= | CA1983388764 | SERPINH1 | c.722-4C= (n.722-4C=) c.71-4C= (n.71-4C=) | |
| 11 | g.75568935C>G | CA1983388765 | SERPINH1 | c.722-4C>G (n.722-4C>G) c.71-4C>G (n.71-4C>G) | dbSNP |
| 11 | g.75568936C= | CA1983388766 | SERPINH1 | c.722-3C= (n.722-3C=) c.71-3C= (n.71-3C=) | |
| 11 | g.75568936C>G | CA600709447 | SERPINH1 | c.722-3C>G (n.722-3C>G) c.71-3C>G (n.71-3C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568936C>T | CA6190910 | SERPINH1 | c.722-3C>T (n.722-3C>T) c.71-3C>T (n.71-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568937A>C | CA381891404 | SERPINH1 | c.722-2A>C (n.722-2A>C) c.71-2A>C (n.71-2A>C) | |
| 11 | g.75568937A>G | CA381891406 | SERPINH1 | c.722-2A>G (n.722-2A>G) c.71-2A>G (n.71-2A>G) | gnomAD v4 |
| 11 | g.75568937A>T | CA381891408 | SERPINH1 | c.722-2A>T (n.722-2A>T) c.71-2A>T (n.71-2A>T) | |
| 11 | g.75568938G>A | CA381891410 | SERPINH1 | c.722-1G>A (n.722-1G>A) c.71-1G>A (n.71-1G>A) | |
| 11 | g.75568938G>C | CA381891411 | SERPINH1 | c.722-1G>C (n.722-1G>C) c.71-1G>C (n.71-1G>C) | |
| 11 | g.75568938G>T | CA381891412 | SERPINH1 | c.722-1G>T (n.722-1G>T) c.71-1G>T (n.71-1G>T) | |
| 11 | g.75568939G>A | CA381891414 | SERPINH1 | c.722G>A (p.Gly241Asp) c.71G>A (p.Gly24Asp) | |
| 11 | g.75568939G>C | CA381891416 | SERPINH1 | c.722G>C (p.Gly241Ala) c.71G>C (p.Gly24Ala) | |
| 11 | g.75568939G= | CA1983388767 | SERPINH1 | c.722G= (p.Gly241=) c.71G= (p.Gly24=) | |
| 11 | g.75568939G>T | CA6190911 | SERPINH1 | c.722G>T (p.Gly241Val) c.71G>T (p.Gly24Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568940C>A | CA475879762 | SERPINH1 | c.723C>A (p.Gly241=) c.72C>A (p.Gly24=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568940C= | CA1983388768 | SERPINH1 | c.723C= (p.Gly241=) c.72C= (p.Gly24=) | |
| 11 | g.75568940C>G | CA475879763 | SERPINH1 | c.723C>G (p.Gly241=) c.72C>G (p.Gly24=) | |
| 11 | g.75568940C>T | CA475879764 | SERPINH1 | c.723C>T (p.Gly241=) c.72C>T (p.Gly24=) | |
| 11 | g.75568941C>A | CA381891418 | SERPINH1 | c.724C>A (p.Leu242Ile) c.73C>A (p.Leu25Ile) | |
| 11 | g.75568941C= | CA1983388769 | SERPINH1 | c.724C= (p.Leu242=) c.73C= (p.Leu25=) | |
| 11 | g.75568941C>G | CA381891419 | SERPINH1 | c.724C>G (p.Leu242Val) c.73C>G (p.Leu25Val) | gnomAD v4 |
| 11 | g.75568941C>T | CA381891421 | SERPINH1 | c.724C>T (p.Leu242Phe) c.73C>T (p.Leu25Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568942T>A | CA381891426 | SERPINH1 | c.725T>A (p.Leu242His) c.74T>A (p.Leu25His) | |
| 11 | g.75568942T>C | CA381891423 | SERPINH1 | c.725T>C (p.Leu242Pro) c.74T>C (p.Leu25Pro) | |
| 11 | g.75568942T>G | CA381891424 | SERPINH1 | c.725T>G (p.Leu242Arg) c.74T>G (p.Leu25Arg) | |
| 11 | g.75568943C>A | CA475879765 | SERPINH1 | c.726C>A (p.Leu242=) c.75C>A (p.Leu25=) | |
| 11 | g.75568943C>G | CA475879766 | SERPINH1 | c.726C>G (p.Leu242=) c.75C>G (p.Leu25=) | |
| 11 | g.75568943C>T | CA475879767 | SERPINH1 | c.726C>T (p.Leu242=) c.75C>T (p.Leu25=) | |
| 11 | g.75568944T>A | CA381891428 | SERPINH1 | c.727T>A (p.Tyr243Asn) c.76T>A (p.Tyr26Asn) | |
| 11 | g.75568944T>C | CA381891429 | SERPINH1 | c.727T>C (p.Tyr243His) c.76T>C (p.Tyr26His) | |
| 11 | g.75568944T>G | CA381891431 | SERPINH1 | c.727T>G (p.Tyr243Asp) c.76T>G (p.Tyr26Asp) | |
| 11 | g.75568945A>C | CA381891432 | SERPINH1 | c.728A>C (p.Tyr243Ser) c.77A>C (p.Tyr26Ser) | |
| 11 | g.75568945A>G | CA381891433 | SERPINH1 | c.728A>G (p.Tyr243Cys) c.77A>G (p.Tyr26Cys) | gnomAD v4 |
| 11 | g.75568945A>T | CA381891435 | SERPINH1 | c.728A>T (p.Tyr243Phe) c.77A>T (p.Tyr26Phe) | |
| 11 | g.75568946C>A | CA381891437 | SERPINH1 | c.729C>A (p.Tyr243Ter) c.78C>A (p.Tyr26Ter) | |
| 11 | g.75568946C= | CA1983388770 | SERPINH1 | c.729C= (p.Tyr243=) c.78C= (p.Tyr26=) | |
| 11 | g.75568946C>G | CA381891439 | SERPINH1 | c.729C>G (p.Tyr243Ter) c.78C>G (p.Tyr26Ter) | |
| 11 | g.75568946C>T | CA224683991 | SERPINH1 | c.729C>T (p.Tyr243=) c.78C>T (p.Tyr26=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568947A>C | CA381891440 | SERPINH1 | c.730A>C (p.Asn244His) c.79A>C (p.Asn27His) | |
| 11 | g.75568947A>G | CA381891441 | SERPINH1 | c.730A>G (p.Asn244Asp) c.79A>G (p.Asn27Asp) | |
| 11 | g.75568947A>T | CA381891442 | SERPINH1 | c.730A>T (p.Asn244Tyr) c.79A>T (p.Asn27Tyr) | |
| 11 | g.75568948A= | CA1983388771 | SERPINH1 | c.731A= (p.Asn244=) c.80A= (p.Asn27=) | |
| 11 | g.75568948A>C | CA6190913 | SERPINH1 | c.731A>C (p.Asn244Thr) c.80A>C (p.Asn27Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568948A>G | CA6190912 | SERPINH1 | c.731A>G (p.Asn244Ser) c.80A>G (p.Asn27Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568948A>T | CA381891443 | SERPINH1 | c.731A>T (p.Asn244Ile) c.80A>T (p.Asn27Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568949C>A | CA381891445 | SERPINH1 | c.732C>A (p.Asn244Lys) c.81C>A (p.Asn27Lys) | |
| 11 | g.75568949C= | CA1983388772 | SERPINH1 | c.732C= (p.Asn244=) c.81C= (p.Asn27=) | |
| 11 | g.75568949C>G | CA381891444 | SERPINH1 | c.732C>G (p.Asn244Lys) c.81C>G (p.Asn27Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568949C>T | CA475879768 | SERPINH1 | c.732C>T (p.Asn244=) c.81C>T (p.Asn27=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568950T>A | CA381891446 | SERPINH1 | c.733T>A (p.Tyr245Asn) c.82T>A (p.Tyr28Asn) | |
| 11 | g.75568950T>C | CA381891447 | SERPINH1 | c.733T>C (p.Tyr245His) c.82T>C (p.Tyr28His) | |
| 11 | g.75568950T>G | CA381891449 | SERPINH1 | c.733T>G (p.Tyr245Asp) c.82T>G (p.Tyr28Asp) | |
| 11 | g.75568951A>C | CA381891451 | SERPINH1 | c.734A>C (p.Tyr245Ser) c.83A>C (p.Tyr28Ser) | |
| 11 | g.75568951A>G | CA381891453 | SERPINH1 | c.734A>G (p.Tyr245Cys) c.83A>G (p.Tyr28Cys) | gnomAD v4 |
| 11 | g.75568951A>T | CA381891454 | SERPINH1 | c.734A>T (p.Tyr245Phe) c.83A>T (p.Tyr28Phe) | |
| 11 | g.75568952C>A | CA381891455 | SERPINH1 | c.735C>A (p.Tyr245Ter) c.84C>A (p.Tyr28Ter) | |
| 11 | g.75568952C>G | CA381891457 | SERPINH1 | c.735C>G (p.Tyr245Ter) c.84C>G (p.Tyr28Ter) | |
| 11 | g.75568952C>T | CA475879769 | SERPINH1 | c.735C>T (p.Tyr245=) c.84C>T (p.Tyr28=) | |
| 11 | g.75568953T>A | CA381891459 | SERPINH1 | c.736T>A (p.Tyr246Asn) c.85T>A (p.Tyr29Asn) | gnomAD v4 |
| 11 | g.75568953T>C | CA381891460 | SERPINH1 | c.736T>C (p.Tyr246His) c.85T>C (p.Tyr29His) | |
| 11 | g.75568953T>G | CA381891462 | SERPINH1 | c.736T>G (p.Tyr246Asp) c.85T>G (p.Tyr29Asp) | |
| 11 | g.75568953_75568956delinsTACG | CA1983388773 | SERPINH1 | c.736_739delinsTACG (p.Tyr246=) c.85_88delinsTACG (p.Tyr29=) | |
| 11 | g.75568954A>C | CA381891467 | SERPINH1 | c.737A>C (p.Tyr246Ser) c.86A>C (p.Tyr29Ser) | |
| 11 | g.75568954A>G | CA381891466 | SERPINH1 | c.737A>G (p.Tyr246Cys) c.86A>G (p.Tyr29Cys) | |
| 11 | g.75568954A>T | CA381891463 | SERPINH1 | c.737A>T (p.Tyr246Phe) c.86A>T (p.Tyr29Phe) | |
| 11 | g.75568961_75568963del | CA6190914 | SERPINH1 | c.744_746del (p.Asp248del) c.93_95del (p.Asp31del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568955C>A | CA381891469 | SERPINH1 | c.738C>A (p.Tyr246Ter) c.87C>A (p.Tyr29Ter) | |
| 11 | g.75568955C= | CA1983388774 | SERPINH1 | c.738C= (p.Tyr246=) c.87C= (p.Tyr29=) | |
| 11 | g.75568955C>G | CA381891471 | SERPINH1 | c.738C>G (p.Tyr246Ter) c.87C>G (p.Tyr29Ter) | |
| 11 | g.75568955C>T | CA6190915 | SERPINH1 | c.738C>T (p.Tyr246=) c.87C>T (p.Tyr29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.75568955_75568956insACCAAACACACCCAA | CA2792739762 | SERPINH1 | c.738_739insACCAAACACACCCAA (p.Tyr246_Asp247insThrLysHisThrGln) c.87_88insACCAAACACACCCAA (p.Tyr29_Asp30insThrLysHisThrGln) | |
| 11 | g.75568956G>A | CA6190916 | SERPINH1 | c.739G>A (p.Asp247Asn) c.88G>A (p.Asp30Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568956G>C | CA381891474 | SERPINH1 | c.739G>C (p.Asp247His) c.88G>C (p.Asp30His) | |
| 11 | g.75568956G= | CA1983388775 | SERPINH1 | c.739G= (p.Asp247=) c.88G= (p.Asp30=) | |
| 11 | g.75568956G>T | CA381891476 | SERPINH1 | c.739G>T (p.Asp247Tyr) c.88G>T (p.Asp30Tyr) | |
| 11 | g.75568957A>C | CA381891477 | SERPINH1 | c.740A>C (p.Asp247Ala) c.89A>C (p.Asp30Ala) | |
| 11 | g.75568957A>G | CA381891478 | SERPINH1 | c.740A>G (p.Asp247Gly) c.89A>G (p.Asp30Gly) | |
| 11 | g.75568957A>T | CA381891480 | SERPINH1 | c.740A>T (p.Asp247Val) c.89A>T (p.Asp30Val) | |
| 11 | g.75568958C>A | CA381891482 | SERPINH1 | c.741C>A (p.Asp247Glu) c.90C>A (p.Asp30Glu) | |
| 11 | g.75568958C= | CA1983388776 | SERPINH1 | c.741C= (p.Asp247=) c.90C= (p.Asp30=) | |
| 11 | g.75568958C>G | CA381891484 | SERPINH1 | c.741C>G (p.Asp247Glu) c.90C>G (p.Asp30Glu) | |
| 11 | g.75568958C>T | CA6190917 | SERPINH1 | c.741C>T (p.Asp247=) c.90C>T (p.Asp30=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568959G>A | CA6190918 | SERPINH1 | c.742G>A (p.Asp248Asn) c.742G>A c.91G>A (p.Asp31Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568959G>C | CA6190919 | SERPINH1 | c.742G>C (p.Asp248His) c.742G>C c.91G>C (p.Asp31His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568959G= | CA1983388777 | SERPINH1 | c.742G= (p.Asp248=) c.742G= c.91G= (p.Asp31=) | |
| 11 | g.75568959G>T | CA381891485 | SERPINH1 | c.742G>T (p.Asp248Tyr) c.742G>T c.91G>T (p.Asp31Tyr) | |
| 11 | g.75568960A= | CA1983388778 | SERPINH1 | c.743A= (p.Asp248=) c.743A= c.92A= (p.Asp31=) | |
| 11 | g.75568960A>C | CA381891489 | SERPINH1 | c.743A>C (p.Asp248Ala) c.743A>C c.92A>C (p.Asp31Ala) | |
| 11 | g.75568960A>G | CA381891491 | SERPINH1 | c.743A>G (p.Asp248Gly) c.743A>G c.92A>G (p.Asp31Gly) | dbSNP gnomAD v4 |
| 11 | g.75568960A>T | CA381891490 | SERPINH1 | c.743A>T (p.Asp248Val) c.743A>T c.92A>T (p.Asp31Val) | |
| 11 | g.75568961C>A | CA381891493 | SERPINH1 | c.744C>A (p.Asp248Glu) c.93C>A (p.Asp31Glu) | |
| 11 | g.75568961C= | CA1983388779 | SERPINH1 | c.744C= (p.Asp248=) c.93C= (p.Asp31=) | |
| 11 | g.75568961C>G | CA381891495 | SERPINH1 | c.744C>G (p.Asp248Glu) c.93C>G (p.Asp31Glu) | gnomAD v4 |
| 11 | g.75568961C>T | CA202738 | SERPINH1 | c.744C>T (p.Asp248=) c.93C>T (p.Asp31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568962G>A | CA381891496 | SERPINH1 | c.745G>A (p.Glu249Lys) c.94G>A (p.Glu32Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.75568962G>C | CA381891498 | SERPINH1 | c.745G>C (p.Glu249Gln) c.94G>C (p.Glu32Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568962G= | CA1983388780 | SERPINH1 | c.745G= (p.Glu249=) c.94G= (p.Glu32=) | |
| 11 | g.75568962G>T | CA381891499 | SERPINH1 | c.745G>T (p.Glu249Ter) c.94G>T (p.Glu32Ter) | |
| 11 | g.75568963A= | CA1983388781 | SERPINH1 | c.746A= (p.Glu249=) c.95A= (p.Glu32=) | |
| 11 | g.75568963A>C | CA381891501 | SERPINH1 | c.746A>C (p.Glu249Ala) c.95A>C (p.Glu32Ala) | |
| 11 | g.75568963A>G | CA6190920 | SERPINH1 | c.746A>G (p.Glu249Gly) c.95A>G (p.Glu32Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568963A>T | CA381891503 | SERPINH1 | c.746A>T (p.Glu249Val) c.95A>T (p.Glu32Val) | |
| 11 | g.75568964G>A | CA475879770 | SERPINH1 | c.747G>A (p.Glu249=) c.96G>A (p.Glu32=) | |
| 11 | g.75568964G>C | CA224684032 | SERPINH1 | c.747G>C (p.Glu249Asp) c.96G>C (p.Glu32Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75568964G= | CA1983388782 | SERPINH1 | c.747G= (p.Glu249=) c.96G= (p.Glu32=) | |
| 11 | g.75568964G>T | CA381891505 | SERPINH1 | c.747G>T (p.Glu249Asp) c.96G>T (p.Glu32Asp) | |
| 11 | g.75568965A>C | CA381891510 | SERPINH1 | c.748A>C (p.Lys250Gln) c.97A>C (p.Lys33Gln) c.748A>C | |
| 11 | g.75568965A>G | CA381891507 | SERPINH1 | c.748A>G (p.Lys250Glu) c.97A>G (p.Lys33Glu) c.748A>G | |
| 11 | g.75568965A>T | CA381891508 | SERPINH1 | c.748A>T (p.Lys250Ter) c.97A>T (p.Lys33Ter) c.748A>T | |
| 11 | g.75568966A>C | CA381891511 | SERPINH1 | c.749A>C (p.Lys250Thr) c.98A>C (p.Lys33Thr) c.749A>C | |
| 11 | g.75568966A>G | CA381891512 | SERPINH1 | c.749A>G (p.Lys250Arg) c.98A>G (p.Lys33Arg) c.749A>G | |
| 11 | g.75568966A>T | CA381891514 | SERPINH1 | c.749A>T (p.Lys250Met) c.98A>T (p.Lys33Met) c.749A>T | |
| 11 | g.75568967G>A | CA475879771 | SERPINH1 | c.750G>A (p.Lys250=) c.99G>A (p.Lys33=) | |
| 11 | g.75568967G>C | CA381891515 | SERPINH1 | c.750G>C (p.Lys250Asn) c.99G>C (p.Lys33Asn) | |
| 11 | g.75568967G>T | CA381891517 | SERPINH1 | c.750G>T (p.Lys250Asn) c.99G>T (p.Lys33Asn) | |
| 11 | g.75568968G>A | CA6190921 | SERPINH1 | c.751G>A (p.Glu251Lys) c.100G>A (p.Glu34Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75568968G>C | CA381891519 | SERPINH1 | c.751G>C (p.Glu251Gln) c.100G>C (p.Glu34Gln) | |
| 11 | g.75568968G= | CA1983388783 | SERPINH1 | c.751G= (p.Glu251=) c.100G= (p.Glu34=) | |
| 11 | g.75568968G>T | CA381891520 | SERPINH1 | c.751G>T (p.Glu251Ter) c.100G>T (p.Glu34Ter) | |
| 11 | g.75568969A>C | CA381891521 | SERPINH1 | c.752A>C (p.Glu251Ala) c.101A>C (p.Glu34Ala) | gnomAD v4 |
| 11 | g.75568969A>G | CA381891523 | SERPINH1 | c.752A>G (p.Glu251Gly) c.101A>G (p.Glu34Gly) | |
| 11 | g.75568969A>T | CA381891524 | SERPINH1 | c.752A>T (p.Glu251Val) c.101A>T (p.Glu34Val) | |
| 11 | g.75568971_75568972del | CA2615177459 | SERPINH1 | c.754_755del (p.Lys252AlafsTer30) c.103_104del (p.Lys35AlafsTer30) | gnomAD v4 |
| 11 | g.75568970A>C | CA381891527 | SERPINH1 | c.753A>C (p.Glu251Asp) c.102A>C (p.Glu34Asp) | |
| 11 | g.75568970A>G | CA475879772 | SERPINH1 | c.753A>G (p.Glu251=) c.102A>G (p.Glu34=) | |
| 11 | g.75568970A>T | CA381891526 | SERPINH1 | c.753A>T (p.Glu251Asp) c.102A>T (p.Glu34Asp) | |
| 11 | g.75568971A>C | CA381891530 | SERPINH1 | c.754A>C (p.Lys252Gln) c.103A>C (p.Lys35Gln) | |
| 11 | g.75568971A>G | CA381891531 | SERPINH1 | c.754A>G (p.Lys252Glu) c.103A>G (p.Lys35Glu) | |
| 11 | g.75568971A>T | CA381891533 | SERPINH1 | c.754A>T (p.Lys252Ter) c.103A>T (p.Lys35Ter) | |
| 11 | g.75568972A>C | CA381891534 | SERPINH1 | c.755A>C (p.Lys252Thr) c.104A>C (p.Lys35Thr) | |
| 11 | g.75568972A>G | CA381891535 | SERPINH1 | c.755A>G (p.Lys252Arg) c.104A>G (p.Lys35Arg) | |
| 11 | g.75568972A>T | CA381891537 | SERPINH1 | c.755A>T (p.Lys252Met) c.104A>T (p.Lys35Met) | |
| 11 | g.75568973G>A | CA475879773 | SERPINH1 | c.756G>A (p.Lys252=) c.105G>A (p.Lys35=) | |
| 11 | g.75568973G>C | CA381891538 | SERPINH1 | c.756G>C (p.Lys252Asn) c.105G>C (p.Lys35Asn) | |
| 11 | g.75568973G>T | CA381891539 | SERPINH1 | c.756G>T (p.Lys252Asn) c.105G>T (p.Lys35Asn) | COSMIC |
| 11 | g.75568974C>A | CA381891541 | SERPINH1 | c.757C>A (p.Leu253Met) c.106C>A (p.Leu36Met) | |
| 11 | g.75568974C>G | CA381891542 | SERPINH1 | c.757C>G (p.Leu253Val) c.106C>G (p.Leu36Val) | |
| 11 | g.75568974C>T | CA475879774 | SERPINH1 | c.757C>T (p.Leu253=) c.106C>T (p.Leu36=) | gnomAD v4 |
| 11 | g.75568975T>A | CA381891543 | SERPINH1 | c.758T>A (p.Leu253Gln) c.107T>A (p.Leu36Gln) | |
| 11 | g.75568975T>C | CA381891545 | SERPINH1 | c.758T>C (p.Leu253Pro) c.107T>C (p.Leu36Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75568975T>G | CA381891547 | SERPINH1 | c.758T>G (p.Leu253Arg) c.107T>G (p.Leu36Arg) | |
| 11 | g.75568975T= | CA1983388784 | SERPINH1 | c.758T= (p.Leu253=) c.107T= (p.Leu36=) | |
| 11 | g.75568976G>A | CA475879775 | SERPINH1 | c.759G>A (p.Leu253=) c.108G>A (p.Leu36=) | gnomAD v4 |
| 11 | g.75568976G>C | CA475879777 | SERPINH1 | c.759G>C (p.Leu253=) c.108G>C (p.Leu36=) | |
| 11 | g.75568976G>T | CA475879776 | SERPINH1 | c.759G>T (p.Leu253=) c.108G>T (p.Leu36=) | |
| 11 | g.75568977C>A | CA381891550 | SERPINH1 | c.760C>A (p.Gln254Lys) c.109C>A (p.Gln37Lys) | gnomAD v4 |
| 11 | g.75568977C= | CA1983388785 | SERPINH1 | c.760C= (p.Gln254=) c.109C= (p.Gln37=) | |
| 11 | g.75568977C>G | CA6190922 | SERPINH1 | c.760C>G (p.Gln254Glu) c.109C>G (p.Gln37Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75568977C>T | CA381891549 | SERPINH1 | c.760C>T (p.Gln254Ter) c.109C>T (p.Gln37Ter) | gnomAD v4 |
| 11 | g.75568978A>C | CA381891552 | SERPINH1 | c.761A>C (p.Gln254Pro) c.110A>C (p.Gln37Pro) | |
| 11 | g.75568978A>G | CA381891554 | SERPINH1 | c.761A>G (p.Gln254Arg) c.110A>G (p.Gln37Arg) | |
| 11 | g.75568978A>T | CA381891555 | SERPINH1 | c.761A>T (p.Gln254Leu) c.110A>T (p.Gln37Leu) |