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 |
|---|---|---|---|---|---|
| 17 | g.1777205_1777228dup | CA2635274364 | SERPINF1 | c.1016_1039dup (p.Ile346_Thr347insAsnSerProAspPheSerLysIle) n.312_335dup c.455_478dup (p.Ile159_Thr160insAsnSerProAspPheSerLysIle) | gnomAD v4 |
| 17 | g.1777221C>A | CA397590416 | SERPINF1 | c.1032C>A (p.Ser344Arg) n.328C>A c.471C>A (p.Ser157Arg) | |
| 17 | g.1777221C= | CA2243034208 | SERPINF1 | c.1032C= (p.Ser344=) n.328C= c.471C= (p.Ser157=) | |
| 17 | g.1777221C>G | CA397590418 | SERPINF1 | c.1032C>G (p.Ser344Arg) n.328C>G c.471C>G (p.Ser157Arg) | |
| 17 | g.1777221C>T | CA497390092 | SERPINF1 | c.1032C>T (p.Ser344=) n.328C>T c.471C>T (p.Ser157=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1777221_1777223delinsCAA | CA2243034209 | SERPINF1 | c.1032_1034delinsCAA (p.Ser344=) n.328_330delinsCAA c.471_473delinsCAA (p.Ser157=) | |
| 17 | g.1777222A>C | CA397590421 | SERPINF1 | c.1033A>C (p.Lys345Gln) n.329A>C c.472A>C (p.Lys158Gln) | |
| 17 | g.1777222A>G | CA397590428 | SERPINF1 | c.1033A>G (p.Lys345Glu) n.329A>G c.472A>G (p.Lys158Glu) | |
| 17 | g.1777222A>T | CA397590431 | SERPINF1 | c.1033A>T (p.Lys345Ter) n.329A>T c.472A>T (p.Lys158Ter) | |
| 17 | g.1777222_1777223del | CA624564714 | SERPINF1 | c.1033_1034del (p.Lys345AspfsTer18) n.329_330del c.472_473del (p.Lys158AspfsTer18) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1777223A>C | CA397590433 | SERPINF1 | c.1034A>C (p.Lys345Thr) n.330A>C c.473A>C (p.Lys158Thr) | |
| 17 | g.1777223A>G | CA397590449 | SERPINF1 | c.1034A>G (p.Lys345Arg) n.330A>G c.473A>G (p.Lys158Arg) | gnomAD v4 |
| 17 | g.1777223A>T | CA397590450 | SERPINF1 | c.1034A>T (p.Lys345Met) n.330A>T c.473A>T (p.Lys158Met) | |
| 17 | g.1777224G>A | CA497390097 | SERPINF1 | c.1035G>A (p.Lys345=) n.331G>A c.474G>A (p.Lys158=) | gnomAD v4 |
| 17 | g.1777224G>C | CA397590451 | SERPINF1 | c.1035G>C (p.Lys345Asn) n.331G>C c.474G>C (p.Lys158Asn) | |
| 17 | g.1777224G>T | CA397590456 | SERPINF1 | c.1035G>T (p.Lys345Asn) n.331G>T c.474G>T (p.Lys158Asn) | |
| 17 | g.1777225A>C | CA397590458 | SERPINF1 | c.1036A>C (p.Ile346Leu) n.332A>C c.475A>C (p.Ile159Leu) | |
| 17 | g.1777225A>G | CA397590462 | SERPINF1 | c.1036A>G (p.Ile346Val) n.332A>G c.475A>G (p.Ile159Val) | |
| 17 | g.1777225A>T | CA397590461 | SERPINF1 | c.1036A>T (p.Ile346Phe) n.332A>T c.475A>T (p.Ile159Phe) | |
| 17 | g.1777226T>A | CA397590463 | SERPINF1 | c.1037T>A (p.Ile346Asn) n.333T>A c.476T>A (p.Ile159Asn) | gnomAD v4 |
| 17 | g.1777226T>C | CA397590464 | SERPINF1 | c.1037T>C (p.Ile346Thr) n.333T>C c.476T>C (p.Ile159Thr) | |
| 17 | g.1777226T>G | CA397590466 | SERPINF1 | c.1037T>G (p.Ile346Ser) n.333T>G c.476T>G (p.Ile159Ser) | |
| 17 | g.1777227C>A | CA497390100 | SERPINF1 | c.1038C>A (p.Ile346=) n.334C>A c.477C>A (p.Ile159=) | |
| 17 | g.1777227C= | CA2243034214 | SERPINF1 | c.1038C= (p.Ile346=) n.334C= c.477C= (p.Ile159=) | |
| 17 | g.1777227C>G | CA397590468 | SERPINF1 | c.1038C>G (p.Ile346Met) n.334C>G c.477C>G (p.Ile159Met) | dbSNP |
| 17 | g.1777227C>T | CA497390101 | SERPINF1 | c.1038C>T (p.Ile346=) n.334C>T c.477C>T (p.Ile159=) | gnomAD v4 |
| 17 | g.1777228A>C | CA397590471 | SERPINF1 | c.1039A>C (p.Thr347Pro) n.335A>C c.478A>C (p.Thr160Pro) | |
| 17 | g.1777228A>G | CA397590475 | SERPINF1 | c.1039A>G (p.Thr347Ala) n.335A>G c.478A>G (p.Thr160Ala) | |
| 17 | g.1777228A>T | CA397590473 | SERPINF1 | c.1039A>T (p.Thr347Ser) n.335A>T c.478A>T (p.Thr160Ser) | |
| 17 | g.1777229C>A | CA8274942 | SERPINF1 | c.1040C>A (p.Thr347Lys) n.336C>A c.479C>A (p.Thr160Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777229C= | CA2243034217 | SERPINF1 | c.1040C= (p.Thr347=) n.336C= c.479C= (p.Thr160=) | |
| 17 | g.1777229C>G | CA397590478 | SERPINF1 | c.1040C>G (p.Thr347Arg) n.336C>G c.479C>G (p.Thr160Arg) | |
| 17 | g.1777229C>T | CA397590479 | SERPINF1 | c.1040C>T (p.Thr347Ile) n.336C>T c.479C>T (p.Thr160Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777230A>C | CA497390104 | SERPINF1 | c.1041A>C (p.Thr347=) n.337A>C c.480A>C (p.Thr160=) | |
| 17 | g.1777230A>G | CA497390105 | SERPINF1 | c.1041A>G (p.Thr347=) n.337A>G c.480A>G (p.Thr160=) | gnomAD v4 |
| 17 | g.1777230A>T | CA497390106 | SERPINF1 | c.1041A>T (p.Thr347=) n.337A>T c.480A>T (p.Thr160=) | gnomAD v4 |
| 17 | g.1777231G>A | CA397590481 | SERPINF1 | c.1042G>A (p.Gly348Ser) n.338G>A c.481G>A (p.Gly161Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777231G>C | CA397590482 | SERPINF1 | c.1042G>C (p.Gly348Arg) n.338G>C c.481G>C (p.Gly161Arg) | |
| 17 | g.1777231G= | CA2243034220 | SERPINF1 | c.1042G= (p.Gly348=) n.338G= c.481G= (p.Gly161=) | |
| 17 | g.1777231G>T | CA397590484 | SERPINF1 | c.1042G>T (p.Gly348Cys) n.338G>T c.481G>T (p.Gly161Cys) | |
| 17 | g.1777232G>A | CA397590486 | SERPINF1 | c.1043G>A (p.Gly348Asp) n.339G>A c.482G>A (p.Gly161Asp) | |
| 17 | g.1777232G>C | CA397590488 | SERPINF1 | c.1043G>C (p.Gly348Ala) n.339G>C c.482G>C (p.Gly161Ala) | |
| 17 | g.1777232G>T | CA397590491 | SERPINF1 | c.1043G>T (p.Gly348Val) n.339G>T c.482G>T (p.Gly161Val) | |
| 17 | g.1777233C>A | CA497390107 | SERPINF1 | c.1044C>A (p.Gly348=) n.340C>A c.483C>A (p.Gly161=) | |
| 17 | g.1777233C= | CA2243034224 | SERPINF1 | c.1044C= (p.Gly348=) n.340C= c.483C= (p.Gly161=) | |
| 17 | g.1777233C>G | CA497390108 | SERPINF1 | c.1044C>G (p.Gly348=) n.340C>G c.483C>G (p.Gly161=) | |
| 17 | g.1777233C>T | CA497390109 | SERPINF1 | c.1044C>T (p.Gly348=) n.340C>T c.483C>T (p.Gly161=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1777234A>C | CA397590493 | SERPINF1 | c.1045A>C (p.Lys349Gln) n.341A>C c.484A>C (p.Lys162Gln) | |
| 17 | g.1777234A>G | CA397590495 | SERPINF1 | c.1045A>G (p.Lys349Glu) n.341A>G c.484A>G (p.Lys162Glu) | |
| 17 | g.1777234A>T | CA397590497 | SERPINF1 | c.1045A>T (p.Lys349Ter) n.341A>T c.484A>T (p.Lys162Ter) | |
| 17 | g.1777235A>C | CA397590504 | SERPINF1 | c.1046A>C (p.Lys349Thr) n.342A>C c.485A>C (p.Lys162Thr) | gnomAD v4 |
| 17 | g.1777235A>G | CA397590499 | SERPINF1 | c.1046A>G (p.Lys349Arg) n.342A>G c.485A>G (p.Lys162Arg) | |
| 17 | g.1777235A>T | CA397590501 | SERPINF1 | c.1046A>T (p.Lys349Ile) n.342A>T c.485A>T (p.Lys162Ile) | |
| 17 | g.1777236A>C | CA397590506 | SERPINF1 | c.1047A>C (p.Lys349Asn) n.343A>C c.486A>C (p.Lys162Asn) | |
| 17 | g.1777236A>G | CA497390111 | SERPINF1 | c.1047A>G (p.Lys349=) n.343A>G c.486A>G (p.Lys162=) | |
| 17 | g.1777236A>T | CA397590509 | SERPINF1 | c.1047A>T (p.Lys349Asn) n.343A>T c.486A>T (p.Lys162Asn) | |
| 17 | g.1777237C>A | CA397590512 | SERPINF1 | c.1048C>A (p.Pro350Thr) n.344C>A c.487C>A (p.Pro163Thr) | |
| 17 | g.1777237C= | CA2243034228 | SERPINF1 | c.1048C= (p.Pro350=) n.344C= c.487C= (p.Pro163=) | |
| 17 | g.1777237C>G | CA397590514 | SERPINF1 | c.1048C>G (p.Pro350Ala) n.344C>G c.487C>G (p.Pro163Ala) | |
| 17 | g.1777237C>T | CA397590517 | SERPINF1 | c.1048C>T (p.Pro350Ser) n.344C>T c.487C>T (p.Pro163Ser) | dbSNP gnomAD v4 |
| 17 | g.1777238C>A | CA397590522 | SERPINF1 | c.1049C>A (p.Pro350His) n.345C>A c.488C>A (p.Pro163His) | |
| 17 | g.1777238C= | CA2243034231 | SERPINF1 | c.1049C= (p.Pro350=) n.345C= c.488C= (p.Pro163=) | |
| 17 | g.1777238C>G | CA397590524 | SERPINF1 | c.1049C>G (p.Pro350Arg) n.345C>G c.488C>G (p.Pro163Arg) | dbSNP |
| 17 | g.1777238C>T | CA397590526 | SERPINF1 | c.1049C>T (p.Pro350Leu) n.345C>T c.488C>T (p.Pro163Leu) | |
| 17 | g.1777239C>A | CA497390115 | SERPINF1 | c.1050C>A (p.Pro350=) n.346C>A c.489C>A (p.Pro163=) | |
| 17 | g.1777239C= | CA2243034235 | SERPINF1 | c.1050C= (p.Pro350=) n.346C= c.489C= (p.Pro163=) | |
| 17 | g.1777239C>G | CA497390117 | SERPINF1 | c.1050C>G (p.Pro350=) n.346C>G c.489C>G (p.Pro163=) | |
| 17 | g.1777239C>T | CA8274943 | SERPINF1 | c.1050C>T (p.Pro350=) n.346C>T c.489C>T (p.Pro163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777240A>C | CA397590530 | SERPINF1 | c.1051A>C (p.Ile351Leu) n.347A>C c.490A>C (p.Ile164Leu) | |
| 17 | g.1777240A>G | CA397590533 | SERPINF1 | c.1051A>G (p.Ile351Val) n.347A>G c.490A>G (p.Ile164Val) | |
| 17 | g.1777240A>T | CA397590535 | SERPINF1 | c.1051A>T (p.Ile351Phe) n.347A>T c.490A>T (p.Ile164Phe) | |
| 17 | g.1777241T>A | CA397590538 | SERPINF1 | c.1052T>A (p.Ile351Asn) n.348T>A c.491T>A (p.Ile164Asn) | |
| 17 | g.1777241T>C | CA397590539 | SERPINF1 | c.1052T>C (p.Ile351Thr) n.348T>C c.491T>C (p.Ile164Thr) | |
| 17 | g.1777241T>G | CA397590542 | SERPINF1 | c.1052T>G (p.Ile351Ser) n.348T>G c.491T>G (p.Ile164Ser) | |
| 17 | g.1777241dup | CA2580092464 | SERPINF1 | c.1052dup (p.Lys352GlnfsTer12) n.348dup c.491dup (p.Lys165GlnfsTer12) | ClinVar gnomAD v4 |
| 17 | g.1777242C>A | CA497390119 | SERPINF1 | c.1053C>A (p.Ile351=) n.349C>A c.492C>A (p.Ile164=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1777242C= | CA2243034242 | SERPINF1 | c.1053C= (p.Ile351=) n.349C= c.492C= (p.Ile164=) | |
| 17 | g.1777242C>G | CA397590545 | SERPINF1 | c.1053C>G (p.Ile351Met) n.349C>G c.492C>G (p.Ile164Met) | |
| 17 | g.1777242C>T | CA497390120 | SERPINF1 | c.1053C>T (p.Ile351=) n.349C>T c.492C>T (p.Ile164=) | |
| 17 | g.1777243A>C | CA397590548 | SERPINF1 | c.1054A>C (p.Lys352Gln) n.350A>C c.493A>C (p.Lys165Gln) | |
| 17 | g.1777243A>G | CA397590550 | SERPINF1 | c.1054A>G (p.Lys352Glu) n.350A>G c.493A>G (p.Lys165Glu) | |
| 17 | g.1777243A>T | CA397590552 | SERPINF1 | c.1054A>T (p.Lys352Ter) n.350A>T c.493A>T (p.Lys165Ter) | |
| 17 | g.1777244A>C | CA397590553 | SERPINF1 | c.1055A>C (p.Lys352Thr) n.351A>C c.494A>C (p.Lys165Thr) | |
| 17 | g.1777244A>G | CA397590555 | SERPINF1 | c.1055A>G (p.Lys352Arg) n.351A>G c.494A>G (p.Lys165Arg) | |
| 17 | g.1777244A>T | CA397590557 | SERPINF1 | c.1055A>T (p.Lys352Met) n.351A>T c.494A>T (p.Lys165Met) | |
| 17 | g.1777245G>A | CA497390560 | SERPINF1 | c.1056G>A (p.Lys352=) n.352G>A c.495G>A (p.Lys165=) | gnomAD v4 |
| 17 | g.1777245G>C | CA397590559 | SERPINF1 | c.1056G>C (p.Lys352Asn) n.352G>C c.495G>C (p.Lys165Asn) | |
| 17 | g.1777245G>T | CA397590561 | SERPINF1 | c.1056G>T (p.Lys352Asn) n.352G>T c.495G>T (p.Lys165Asn) | |
| 17 | g.1777246C>A | CA8274944 | SERPINF1 | c.1057C>A (p.Leu353Met) n.353C>A c.496C>A (p.Leu166Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1777246C= | CA2243034250 | SERPINF1 | c.1057C= (p.Leu353=) n.353C= c.496C= (p.Leu166=) | |
| 17 | g.1777246C>G | CA397590567 | SERPINF1 | c.1057C>G (p.Leu353Val) n.353C>G c.496C>G (p.Leu166Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777246C>T | CA497390561 | SERPINF1 | c.1057C>T (p.Leu353=) n.353C>T c.496C>T (p.Leu166=) | |
| 17 | g.1777247T>A | CA397590571 | SERPINF1 | c.1058T>A (p.Leu353Gln) n.354T>A c.497T>A (p.Leu166Gln) | |
| 17 | g.1777247T>C | CA397590573 | SERPINF1 | c.1058T>C (p.Leu353Pro) n.354T>C c.497T>C (p.Leu166Pro) | |
| 17 | g.1777247T>G | CA397590576 | SERPINF1 | c.1058T>G (p.Leu353Arg) n.354T>G c.497T>G (p.Leu166Arg) | |
| 17 | g.1777248G>A | CA497390563 | SERPINF1 | c.1059G>A (p.Leu353=) n.355G>A c.498G>A (p.Leu166=) | |
| 17 | g.1777248G>C | CA497390564 | SERPINF1 | c.1059G>C (p.Leu353=) n.355G>C c.498G>C (p.Leu166=) | |
| 17 | g.1777248G>T | CA497390565 | SERPINF1 | c.1059G>T (p.Leu353=) n.355G>T c.498G>T (p.Leu166=) | |
| 17 | g.1777249A>C | CA397590579 | SERPINF1 | c.1060A>C (p.Thr354Pro) n.356A>C c.499A>C (p.Thr167Pro) | |
| 17 | g.1777249A>G | CA397590582 | SERPINF1 | c.1060A>G (p.Thr354Ala) n.356A>G c.499A>G (p.Thr167Ala) | |
| 17 | g.1777249A>T | CA397590581 | SERPINF1 | c.1060A>T (p.Thr354Ser) n.356A>T c.499A>T (p.Thr167Ser) | |
| 17 | g.1777250C>A | CA397590585 | SERPINF1 | c.1061C>A (p.Thr354Asn) n.357C>A c.500C>A (p.Thr167Asn) | |
| 17 | g.1777250C>G | CA397590587 | SERPINF1 | c.1061C>G (p.Thr354Ser) n.357C>G c.500C>G (p.Thr167Ser) | |
| 17 | g.1777250C>T | CA397590590 | SERPINF1 | c.1061C>T (p.Thr354Ile) n.357C>T c.500C>T (p.Thr167Ile) | |
| 17 | g.1777251T>A | CA497390566 | SERPINF1 | c.1062T>A (p.Thr354=) n.358T>A c.501T>A (p.Thr167=) | |
| 17 | g.1777251T>C | CA497390567 | SERPINF1 | c.1062T>C (p.Thr354=) n.358T>C c.501T>C (p.Thr167=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1777251T>G | CA497390568 | SERPINF1 | c.1062T>G (p.Thr354=) n.358T>G c.501T>G (p.Thr167=) | |
| 17 | g.1777251T= | CA2243034255 | SERPINF1 | c.1062T= (p.Thr354=) n.358T= c.501T= (p.Thr167=) | |
| 17 | g.1777252C>A | CA397590594 | SERPINF1 | c.1063C>A (p.Gln355Lys) n.359C>A c.502C>A (p.Gln168Lys) | |
| 17 | g.1777252C>G | CA397590596 | SERPINF1 | c.1063C>G (p.Gln355Glu) n.359C>G c.502C>G (p.Gln168Glu) | gnomAD v4 |
| 17 | g.1777252C>T | CA397590598 | SERPINF1 | c.1063C>T (p.Gln355Ter) n.359C>T c.502C>T (p.Gln168Ter) | |
| 17 | g.1777253A= | CA2243034259 | SERPINF1 | c.1064A= (p.Gln355=) n.360A= c.503A= (p.Gln168=) | |
| 17 | g.1777253A>C | CA397590611 | SERPINF1 | c.1064A>C (p.Gln355Pro) n.360A>C c.503A>C (p.Gln168Pro) | |
| 17 | g.1777253A>G | CA8274945 | SERPINF1 | c.1064A>G (p.Gln355Arg) n.360A>G c.503A>G (p.Gln168Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1777253A>T | CA397590601 | SERPINF1 | c.1064A>T (p.Gln355Leu) n.360A>T c.503A>T (p.Gln168Leu) | |
| 17 | g.1777254G>A | CA8274946 | SERPINF1 | c.1065G>A (p.Gln355=) n.361G>A c.504G>A (p.Gln168=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777254G>C | CA397590615 | SERPINF1 | c.1065G>C (p.Gln355His) n.361G>C c.504G>C (p.Gln168His) | dbSNP gnomAD v4 |
| 17 | g.1777254G= | CA2243034266 | SERPINF1 | c.1065G= (p.Gln355=) n.361G= c.504G= (p.Gln168=) | |
| 17 | g.1777254G>T | CA397590617 | SERPINF1 | c.1065G>T (p.Gln355His) n.361G>T c.504G>T (p.Gln168His) | |
| 17 | g.1777255G>A | CA8274947 | SERPINF1 | c.1066G>A (p.Val356Met) n.362G>A c.505G>A (p.Val169Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777255G>C | CA397590621 | SERPINF1 | c.1066G>C (p.Val356Leu) n.362G>C c.505G>C (p.Val169Leu) | |
| 17 | g.1777255G= | CA2243034270 | SERPINF1 | c.1066G= (p.Val356=) n.362G= c.505G= (p.Val169=) | |
| 17 | g.1777255G>T | CA397590623 | SERPINF1 | c.1066G>T (p.Val356Leu) n.362G>T c.505G>T (p.Val169Leu) | |
| 17 | g.1777256T>A | CA397590626 | SERPINF1 | c.1067T>A (p.Val356Glu) n.363T>A c.506T>A (p.Val169Glu) | |
| 17 | g.1777256T>C | CA397590632 | SERPINF1 | c.1067T>C (p.Val356Ala) n.363T>C c.506T>C (p.Val169Ala) | |
| 17 | g.1777256T>G | CA397590629 | SERPINF1 | c.1067T>G (p.Val356Gly) n.363T>G c.506T>G (p.Val169Gly) | |
| 17 | g.1777257G>A | CA497390570 | SERPINF1 | c.1068G>A (p.Val356=) n.364G>A c.507G>A (p.Val169=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1777257G>C | CA497390572 | SERPINF1 | c.1068G>C (p.Val356=) n.364G>C c.507G>C (p.Val169=) | |
| 17 | g.1777257G= | CA2243034279 | SERPINF1 | c.1068G= (p.Val356=) n.364G= c.507G= (p.Val169=) | |
| 17 | g.1777257G>T | CA497390573 | SERPINF1 | c.1068G>T (p.Val356=) n.364G>T c.507G>T (p.Val169=) | |
| 17 | g.1777258G>A | CA397590635 | SERPINF1 | c.1069G>A (p.Glu357Lys) n.365G>A c.508G>A (p.Glu170Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.1777258G>C | CA397590638 | SERPINF1 | c.1069G>C (p.Glu357Gln) n.365G>C c.508G>C (p.Glu170Gln) | |
| 17 | g.1777258G= | CA2243034281 | SERPINF1 | c.1069G= (p.Glu357=) n.365G= c.508G= (p.Glu170=) | |
| 17 | g.1777258G>T | CA397590640 | SERPINF1 | c.1069G>T (p.Glu357Ter) n.365G>T c.508G>T (p.Glu170Ter) | |
| 17 | g.1777259A>C | CA397590642 | SERPINF1 | c.1070A>C (p.Glu357Ala) n.366A>C c.509A>C (p.Glu170Ala) | |
| 17 | g.1777259A>G | CA397590644 | SERPINF1 | c.1070A>G (p.Glu357Gly) n.366A>G c.509A>G (p.Glu170Gly) | |
| 17 | g.1777259A>T | CA397590645 | SERPINF1 | c.1070A>T (p.Glu357Val) n.366A>T c.509A>T (p.Glu170Val) | |
| 17 | g.1777260A>C | CA397590647 | SERPINF1 | c.1071A>C (p.Glu357Asp) n.367A>C c.510A>C (p.Glu170Asp) | |
| 17 | g.1777260A>G | CA497390577 | SERPINF1 | c.1071A>G (p.Glu357=) n.367A>G c.510A>G (p.Glu170=) | |
| 17 | g.1777260A>T | CA397590649 | SERPINF1 | c.1071A>T (p.Glu357Asp) n.367A>T c.510A>T (p.Glu170Asp) | |
| 17 | g.1777261C>A | CA397590652 | SERPINF1 | c.1072C>A (p.His358Asn) n.368C>A c.511C>A (p.His171Asn) | |
| 17 | g.1777261C>G | CA397590654 | SERPINF1 | c.1072C>G (p.His358Asp) n.368C>G c.511C>G (p.His171Asp) | |
| 17 | g.1777261C>T | CA397590656 | SERPINF1 | c.1072C>T (p.His358Tyr) n.368C>T c.511C>T (p.His171Tyr) | gnomAD v4 |
| 17 | g.1777262A>C | CA397590658 | SERPINF1 | c.1073A>C (p.His358Pro) n.369A>C c.512A>C (p.His171Pro) | |
| 17 | g.1777262A>G | CA397590664 | SERPINF1 | c.1073A>G (p.His358Arg) n.369A>G c.512A>G (p.His171Arg) | |
| 17 | g.1777262A>T | CA397590661 | SERPINF1 | c.1073A>T (p.His358Leu) n.369A>T c.512A>T (p.His171Leu) | |
| 17 | g.1777263C>A | CA397590666 | SERPINF1 | c.1074C>A (p.His358Gln) n.370C>A c.513C>A (p.His171Gln) | |
| 17 | g.1777263C= | CA2243034284 | SERPINF1 | c.1074C= (p.His358=) n.370C= c.513C= (p.His171=) | |
| 17 | g.1777263C>G | CA397590668 | SERPINF1 | c.1074C>G (p.His358Gln) n.370C>G c.513C>G (p.His171Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1777263C>T | CA286852251 | SERPINF1 | c.1074C>T (p.His358=) n.370C>T c.513C>T (p.His171=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777264del | CA2580092465 | SERPINF1 | c.1075del (p.Arg359GlyfsTer?) n.371del c.514del (p.Arg172GlyfsTer?) | ClinVar gnomAD v4 |
| 17 | g.1777264C>A | CA497390579 | SERPINF1 | c.1075C>A (p.Arg359=) n.371C>A c.514C>A (p.Arg172=) | |
| 17 | g.1777264C= | CA2243034287 | SERPINF1 | c.1075C= (p.Arg359=) n.371C= c.514C= (p.Arg172=) | |
| 17 | g.1777264C>G | CA397590673 | SERPINF1 | c.1075C>G (p.Arg359Gly) n.371C>G c.514C>G (p.Arg172Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1777264C>T | CA8274948 | SERPINF1 | c.1075C>T (p.Arg359Trp) n.371C>T c.514C>T (p.Arg172Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777265G>A | CA8274949 | SERPINF1 | c.1076G>A (p.Arg359Gln) n.372G>A c.515G>A (p.Arg172Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777265G>C | CA397590677 | SERPINF1 | c.1076G>C (p.Arg359Pro) n.372G>C c.515G>C (p.Arg172Pro) | |
| 17 | g.1777265G= | CA2243034290 | SERPINF1 | c.1076G= (p.Arg359=) n.372G= c.515G= (p.Arg172=) | |
| 17 | g.1777265G>T | CA397590678 | SERPINF1 | c.1076G>T (p.Arg359Leu) n.372G>T c.515G>T (p.Arg172Leu) | |
| 17 | g.1777266_1777267del | CA2567536523 | SERPINF1 | c.1077_1078del (p.Ala360TrpfsTer3) n.373_374del c.516_517del (p.Ala173TrpfsTer3) | |
| 17 | g.1777266G>A | CA8274950 | SERPINF1 | c.1077G>A (p.Arg359=) n.373G>A c.516G>A (p.Arg172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777266G>C | CA497390584 | SERPINF1 | c.1077G>C (p.Arg359=) n.373G>C c.516G>C (p.Arg172=) | |
| 17 | g.1777266G= | CA2243034296 | SERPINF1 | c.1077G= (p.Arg359=) n.373G= c.516G= (p.Arg172=) | |
| 17 | g.1777266G>T | CA497390586 | SERPINF1 | c.1077G>T (p.Arg359=) n.373G>T c.516G>T (p.Arg172=) | |
| 17 | g.1777267G>A | CA397590683 | SERPINF1 | c.1078G>A (p.Ala360Thr) n.374G>A c.517G>A (p.Ala173Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1777267G>C | CA397590685 | SERPINF1 | c.1078G>C (p.Ala360Pro) n.374G>C c.517G>C (p.Ala173Pro) | |
| 17 | g.1777267G= | CA2243034299 | SERPINF1 | c.1078G= (p.Ala360=) n.374G= c.517G= (p.Ala173=) | |
| 17 | g.1777267G>T | CA397590687 | SERPINF1 | c.1078G>T (p.Ala360Ser) n.374G>T c.517G>T (p.Ala173Ser) | |
| 17 | g.1777268C>A | CA397590694 | SERPINF1 | c.1079C>A (p.Ala360Asp) n.375C>A c.518C>A (p.Ala173Asp) | |
| 17 | g.1777268C= | CA2243034302 | SERPINF1 | c.1079C= (p.Ala360=) n.375C= c.518C= (p.Ala173=) | |
| 17 | g.1777268C>G | CA397590691 | SERPINF1 | c.1079C>G (p.Ala360Gly) n.375C>G c.518C>G (p.Ala173Gly) | |
| 17 | g.1777268C>T | CA8274951 | SERPINF1 | c.1079C>T (p.Ala360Val) n.375C>T c.518C>T (p.Ala173Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777268_1777269insAT | CA2568255279 | SERPINF1 | c.1079_1080insAT (p.Gly361LeufsTer?) n.375_376insAT c.518_519insAT (p.Gly174LeufsTer?) | |
| 17 | g.1777269T>A | CA497390590 | SERPINF1 | c.1080T>A (p.Ala360=) n.376T>A c.519T>A (p.Ala173=) | |
| 17 | g.1777269T>C | CA497390592 | SERPINF1 | c.1080T>C (p.Ala360=) n.376T>C c.519T>C (p.Ala173=) | gnomAD v4 |
| 17 | g.1777269T>G | CA497390591 | SERPINF1 | c.1080T>G (p.Ala360=) n.376T>G c.519T>G (p.Ala173=) | gnomAD v4 |
| 17 | g.1777270G>A | CA397590698 | SERPINF1 | c.1081G>A (p.Gly361Ser) n.377G>A c.520G>A (p.Gly174Ser) | gnomAD v4 |
| 17 | g.1777270G>C | CA397590700 | SERPINF1 | c.1081G>C (p.Gly361Arg) n.377G>C c.520G>C (p.Gly174Arg) | |
| 17 | g.1777270G>T | CA397590702 | SERPINF1 | c.1081G>T (p.Gly361Cys) n.377G>T c.520G>T (p.Gly174Cys) | |
| 17 | g.1777271G>A | CA397590705 | SERPINF1 | c.1082G>A (p.Gly361Asp) n.378G>A c.521G>A (p.Gly174Asp) | |
| 17 | g.1777271G>C | CA397590707 | SERPINF1 | c.1082G>C (p.Gly361Ala) n.378G>C c.521G>C (p.Gly174Ala) | gnomAD v4 |
| 17 | g.1777271G>T | CA397590710 | SERPINF1 | c.1082G>T (p.Gly361Val) n.378G>T c.521G>T (p.Gly174Val) | |
| 17 | g.1777272C>A | CA497390594 | SERPINF1 | c.1083C>A (p.Gly361=) n.379C>A c.522C>A (p.Gly174=) | |
| 17 | g.1777272C>G | CA497390596 | SERPINF1 | c.1083C>G (p.Gly361=) n.379C>G c.522C>G (p.Gly174=) | |
| 17 | g.1777272C>T | CA497390595 | SERPINF1 | c.1083C>T (p.Gly361=) n.379C>T c.522C>T (p.Gly174=) | |
| 17 | g.1777273T>A | CA397590714 | SERPINF1 | c.1084T>A (p.Phe362Ile) n.380T>A c.523T>A (p.Phe175Ile) | |
| 17 | g.1777273T>C | CA397590716 | SERPINF1 | c.1084T>C (p.Phe362Leu) n.380T>C c.523T>C (p.Phe175Leu) | |
| 17 | g.1777273T>G | CA397590718 | SERPINF1 | c.1084T>G (p.Phe362Val) n.380T>G c.523T>G (p.Phe175Val) | |
| 17 | g.1777274T>A | CA397590722 | SERPINF1 | c.1085T>A (p.Phe362Tyr) n.381T>A c.524T>A (p.Phe175Tyr) | |
| 17 | g.1777274T>C | CA8274952 | SERPINF1 | c.1085T>C (p.Phe362Ser) n.381T>C c.524T>C (p.Phe175Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1777274T>G | CA397590726 | SERPINF1 | c.1085T>G (p.Phe362Cys) n.381T>G c.524T>G (p.Phe175Cys) | dbSNP gnomAD v4 |
| 17 | g.1777274T= | CA2243034305 | SERPINF1 | c.1085T= (p.Phe362=) n.381T= c.524T= (p.Phe175=) | |
| 17 | g.1777275T>A | CA397590730 | SERPINF1 | c.1086T>A (p.Phe362Leu) n.382T>A c.525T>A (p.Phe175Leu) | |
| 17 | g.1777275T>C | CA497390599 | SERPINF1 | c.1086T>C (p.Phe362=) n.382T>C c.525T>C (p.Phe175=) | dbSNP |
| 17 | g.1777275T>G | CA397590731 | SERPINF1 | c.1086T>G (p.Phe362Leu) n.382T>G c.525T>G (p.Phe175Leu) | |
| 17 | g.1777276G>A | CA397590735 | SERPINF1 | c.1087G>A (p.Glu363Lys) n.383G>A c.526G>A (p.Glu176Lys) | COSMIC |
| 17 | g.1777276G>C | CA397590740 | SERPINF1 | c.1087G>C (p.Glu363Gln) n.383G>C c.526G>C (p.Glu176Gln) | |
| 17 | g.1777276G>T | CA397590738 | SERPINF1 | c.1087G>T (p.Glu363Ter) n.383G>T c.526G>T (p.Glu176Ter) | |
| 17 | g.1777277A= | CA2243034309 | SERPINF1 | c.1088A= (p.Glu363=) n.384A= c.527A= (p.Glu176=) | |
| 17 | g.1777277A>C | CA8274953 | SERPINF1 | c.1088A>C (p.Glu363Ala) n.384A>C c.527A>C (p.Glu176Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777277A>G | CA397590747 | SERPINF1 | c.1088A>G (p.Glu363Gly) n.384A>G c.527A>G (p.Glu176Gly) | |
| 17 | g.1777277A>T | CA397590745 | SERPINF1 | c.1088A>T (p.Glu363Val) n.384A>T c.527A>T (p.Glu176Val) | |
| 17 | g.1777278G>A | CA497390603 | SERPINF1 | c.1089G>A (p.Glu363=) n.385G>A c.528G>A (p.Glu176=) | gnomAD v4 |
| 17 | g.1777278G>C | CA397590751 | SERPINF1 | c.1089G>C (p.Glu363Asp) n.385G>C c.528G>C (p.Glu176Asp) | |
| 17 | g.1777278G>T | CA397590753 | SERPINF1 | c.1089G>T (p.Glu363Asp) n.385G>T c.528G>T (p.Glu176Asp) | |
| 17 | g.1777279T>A | CA397590755 | SERPINF1 | c.1090T>A (p.Trp364Arg) n.386T>A c.529T>A (p.Trp177Arg) | |
| 17 | g.1777279T>C | CA397590757 | SERPINF1 | c.1090T>C (p.Trp364Arg) n.386T>C c.529T>C (p.Trp177Arg) | |
| 17 | g.1777279T>G | CA397590761 | SERPINF1 | c.1090T>G (p.Trp364Gly) n.386T>G c.529T>G (p.Trp177Gly) | |
| 17 | g.1777280G>A | CA8274954 | SERPINF1 | c.1091G>A (p.Trp364Ter) n.387G>A c.530G>A (p.Trp177Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1777280G>C | CA397590764 | SERPINF1 | c.1091G>C (p.Trp364Ser) n.387G>C c.530G>C (p.Trp177Ser) | ClinVar |
| 17 | g.1777280G= | CA2243034311 | SERPINF1 | c.1091G= (p.Trp364=) n.387G= c.530G= (p.Trp177=) | |
| 17 | g.1777280G>T | CA397590766 | SERPINF1 | c.1091G>T (p.Trp364Leu) n.387G>T c.530G>T (p.Trp177Leu) | |
| 17 | g.1777281G>A | CA397590769 | SERPINF1 | c.1092G>A (p.Trp364Ter) n.388G>A c.531G>A (p.Trp177Ter) | ClinVar dbSNP |
| 17 | g.1777281G>C | CA397590772 | SERPINF1 | c.1092G>C (p.Trp364Cys) n.388G>C c.531G>C (p.Trp177Cys) | |
| 17 | g.1777281G>T | CA397590775 | SERPINF1 | c.1092G>T (p.Trp364Cys) n.388G>T c.531G>T (p.Trp177Cys) | |
| 17 | g.1777281_1777283delinsGAA | CA2243034313 | SERPINF1 | c.1092_1094delinsGAA (p.Trp364=) n.388_390delinsGAA c.531_533delinsGAA (p.Trp177=) | |
| 17 | g.1777282A>C | CA397590788 | SERPINF1 | c.1093A>C (p.Asn365His) n.389A>C c.532A>C (p.Asn178His) | |
| 17 | g.1777282A>G | CA397590786 | SERPINF1 | c.1093A>G (p.Asn365Asp) n.389A>G c.532A>G (p.Asn178Asp) | |
| 17 | g.1777282A>T | CA397590783 | SERPINF1 | c.1093A>T (p.Asn365Tyr) n.389A>T c.532A>T (p.Asn178Tyr) | |
| 17 | g.1777282_1777283del | CA726615567 | SERPINF1 | c.1093_1094del (p.Asn365ArgfsTer26) n.389_390del c.532_533del (p.Asn178ArgfsTer26) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1777283A>C | CA397590792 | SERPINF1 | c.1094A>C (p.Asn365Thr) n.390A>C c.533A>C (p.Asn178Thr) | |
| 17 | g.1777283A>G | CA397590794 | SERPINF1 | c.1094A>G (p.Asn365Ser) n.390A>G c.533A>G (p.Asn178Ser) | |
| 17 | g.1777283A>T | CA397590796 | SERPINF1 | c.1094A>T (p.Asn365Ile) n.390A>T c.533A>T (p.Asn178Ile) | |
| 17 | g.1777284C>A | CA397590799 | SERPINF1 | c.1095C>A (p.Asn365Lys) n.391C>A c.534C>A (p.Asn178Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1777284C= | CA2243034319 | SERPINF1 | c.1095C= (p.Asn365=) n.391C= c.534C= (p.Asn178=) | |
| 17 | g.1777284C>G | CA8274956 | SERPINF1 | c.1095C>G (p.Asn365Lys) n.391C>G c.534C>G (p.Asn178Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777284C>T | CA8274955 | SERPINF1 | c.1095C>T (p.Asn365=) n.391C>T c.534C>T (p.Asn178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777284_1777285insTTT | CA980697097 | SERPINF1 | c.1095_1096insTTT (p.Asn365_Glu366insPhe) n.391_392insTTT c.534_535insTTT (p.Asn178_Glu179insPhe) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1777285G>A | CA8274958 | SERPINF1 | c.1096G>A (p.Glu366Lys) n.392G>A c.535G>A (p.Glu179Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777285G>C | CA8274957 | SERPINF1 | c.1096G>C (p.Glu366Gln) n.392G>C c.535G>C (p.Glu179Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777285G= | CA2243034324 | SERPINF1 | c.1096G= (p.Glu366=) n.392G= c.535G= (p.Glu179=) | |
| 17 | g.1777285G>T | CA397590808 | SERPINF1 | c.1096G>T (p.Glu366Ter) n.392G>T c.535G>T (p.Glu179Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1777286A>C | CA397590810 | SERPINF1 | c.1097A>C (p.Glu366Ala) n.393A>C c.536A>C (p.Glu179Ala) | |
| 17 | g.1777286A>G | CA397590812 | SERPINF1 | c.1097A>G (p.Glu366Gly) n.393A>G c.536A>G (p.Glu179Gly) | |
| 17 | g.1777286A>T | CA397590814 | SERPINF1 | c.1097A>T (p.Glu366Val) n.393A>T c.536A>T (p.Glu179Val) | |
| 17 | g.1777287G>A | CA497390614 | SERPINF1 | c.1098G>A (p.Glu366=) n.394G>A c.537G>A (p.Glu179=) | dbSNP gnomAD v4 |
| 17 | g.1777287G>C | CA397590817 | SERPINF1 | c.1098G>C (p.Glu366Asp) n.394G>C c.537G>C (p.Glu179Asp) | |
| 17 | g.1777287G= | CA2243034326 | SERPINF1 | c.1098G= (p.Glu366=) n.394G= c.537G= (p.Glu179=) | |
| 17 | g.1777287G>T | CA397590819 | SERPINF1 | c.1098G>T (p.Glu366Asp) n.394G>T c.537G>T (p.Glu179Asp) | |
| 17 | g.1777290_1777299dup | CA2635274616 | SERPINF1 | c.1101_1110dup (p.Thr371TrpfsTer24) n.397_406dup c.540_549dup (p.Thr184TrpfsTer24) | gnomAD v4 |
| 17 | g.1777288G>A | CA397590820 | SERPINF1 | c.1099G>A (p.Asp367Asn) n.395G>A c.538G>A (p.Asp180Asn) | |
| 17 | g.1777288G>C | CA397590822 | SERPINF1 | c.1099G>C (p.Asp367His) n.395G>C c.538G>C (p.Asp180His) | |
| 17 | g.1777288G>T | CA397590824 | SERPINF1 | c.1099G>T (p.Asp367Tyr) n.395G>T c.538G>T (p.Asp180Tyr) | |
| 17 | g.1777289A>C | CA397590828 | SERPINF1 | c.1100A>C (p.Asp367Ala) n.396A>C c.539A>C (p.Asp180Ala) | |
| 17 | g.1777289A>G | CA397590830 | SERPINF1 | c.1100A>G (p.Asp367Gly) n.396A>G c.539A>G (p.Asp180Gly) | |
| 17 | g.1777289A>T | CA397590832 | SERPINF1 | c.1100A>T (p.Asp367Val) n.396A>T c.539A>T (p.Asp180Val) | |
| 17 | g.1777290T>A | CA397590835 | SERPINF1 | c.1101T>A (p.Asp367Glu) n.397T>A c.540T>A (p.Asp180Glu) | |
| 17 | g.1777290T>C | CA497390616 | SERPINF1 | c.1101T>C (p.Asp367=) n.397T>C c.540T>C (p.Asp180=) | |
| 17 | g.1777290T>G | CA397590837 | SERPINF1 | c.1101T>G (p.Asp367Glu) n.397T>G c.540T>G (p.Asp180Glu) | |
| 17 | g.1777291G>A | CA397590839 | SERPINF1 | c.1102G>A (p.Gly368Arg) n.398G>A c.541G>A (p.Gly181Arg) | |
| 17 | g.1777291G>C | CA397590842 | SERPINF1 | c.1102G>C (p.Gly368Arg) n.398G>C c.541G>C (p.Gly181Arg) | |
| 17 | g.1777291G>T | CA397590844 | SERPINF1 | c.1102G>T (p.Gly368Trp) n.398G>T c.541G>T (p.Gly181Trp) | |
| 17 | g.1777292G>A | CA397590851 | SERPINF1 | c.1103G>A (p.Gly368Glu) n.399G>A c.542G>A (p.Gly181Glu) | |
| 17 | g.1777292G>C | CA397590849 | SERPINF1 | c.1103G>C (p.Gly368Ala) n.399G>C c.542G>C (p.Gly181Ala) | |
| 17 | g.1777292G>T | CA397590847 | SERPINF1 | c.1103G>T (p.Gly368Val) n.399G>T c.542G>T (p.Gly181Val) | gnomAD v4 |
| 17 | g.1777293G>A | CA497390622 | SERPINF1 | c.1104G>A (p.Gly368=) n.400G>A c.543G>A (p.Gly181=) | |
| 17 | g.1777293G>C | CA497390621 | SERPINF1 | c.1104G>C (p.Gly368=) n.400G>C c.543G>C (p.Gly181=) | |
| 17 | g.1777293G= | CA2243034328 | SERPINF1 | c.1104G= (p.Gly368=) n.400G= c.543G= (p.Gly181=) | |
| 17 | g.1777293G>T | CA497390620 | SERPINF1 | c.1104G>T (p.Gly368=) n.400G>T c.543G>T (p.Gly181=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1777294G>A | CA397590854 | SERPINF1 | c.1105G>A (p.Ala369Thr) n.401G>A c.544G>A (p.Ala182Thr) | gnomAD v4 |
| 17 | g.1777294G>C | CA397590856 | SERPINF1 | c.1105G>C (p.Ala369Pro) n.401G>C c.544G>C (p.Ala182Pro) | |
| 17 | g.1777294G>T | CA397590858 | SERPINF1 | c.1105G>T (p.Ala369Ser) n.401G>T c.544G>T (p.Ala182Ser) | |
| 17 | g.1777295C>A | CA397590860 | SERPINF1 | c.1106C>A (p.Ala369Glu) n.402C>A c.545C>A (p.Ala182Glu) | dbSNP gnomAD v4 |
| 17 | g.1777295C= | CA2243034330 | SERPINF1 | c.1106C= (p.Ala369=) n.402C= c.545C= (p.Ala182=) | |
| 17 | g.1777295C>G | CA397590862 | SERPINF1 | c.1106C>G (p.Ala369Gly) n.402C>G c.545C>G (p.Ala182Gly) | |
| 17 | g.1777295C>T | CA8274959 | SERPINF1 | c.1106C>T (p.Ala369Val) n.402C>T c.545C>T (p.Ala182Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777296G>A | CA8274960 | SERPINF1 | c.1107G>A (p.Ala369=) n.403G>A c.546G>A (p.Ala182=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.1777296G>C | CA497390627 | SERPINF1 | c.1107G>C (p.Ala369=) n.403G>C c.546G>C (p.Ala182=) | |
| 17 | g.1777296G= | CA2243034332 | SERPINF1 | c.1107G= (p.Ala369=) n.403G= c.546G= (p.Ala182=) | |
| 17 | g.1777296G>T | CA497390628 | SERPINF1 | c.1107G>T (p.Ala369=) n.403G>T c.546G>T (p.Ala182=) | |
| 17 | g.1777297G>A | CA397590870 | SERPINF1 | c.1108G>A (p.Gly370Arg) n.404G>A c.547G>A (p.Gly183Arg) | |
| 17 | g.1777297G>C | CA397590872 | SERPINF1 | c.1108G>C (p.Gly370Arg) n.404G>C c.547G>C (p.Gly183Arg) | |
| 17 | g.1777297G>T | CA397590875 | SERPINF1 | c.1108G>T (p.Gly370Ter) n.404G>T c.547G>T (p.Gly183Ter) | |
| 17 | g.1777298G>A | CA397590878 | SERPINF1 | c.1109G>A (p.Gly370Glu) n.405G>A c.548G>A (p.Gly183Glu) | COSMIC |
| 17 | g.1777298G>C | CA397590880 | SERPINF1 | c.1109G>C (p.Gly370Ala) n.405G>C c.548G>C (p.Gly183Ala) | gnomAD v4 |
| 17 | g.1777298G>T | CA397590882 | SERPINF1 | c.1109G>T (p.Gly370Val) n.405G>T c.548G>T (p.Gly183Val) | |
| 17 | g.1777299A>C | CA497390631 | SERPINF1 | c.1110A>C (p.Gly370=) n.406A>C c.549A>C (p.Gly183=) | |
| 17 | g.1777299A>G | CA497390630 | SERPINF1 | c.1110A>G (p.Gly370=) n.406A>G c.549A>G (p.Gly183=) | |
| 17 | g.1777299A>T | CA497390629 | SERPINF1 | c.1110A>T (p.Gly370=) n.406A>T c.549A>T (p.Gly183=) | |
| 17 | g.1777300A= | CA2243034334 | SERPINF1 | c.1111A= (p.Thr371=) n.407A= c.550A= (p.Thr184=) | |
| 17 | g.1777300A>C | CA397590891 | SERPINF1 | c.1111A>C (p.Thr371Pro) n.407A>C c.550A>C (p.Thr184Pro) | dbSNP |
| 17 | g.1777300A>G | CA397590889 | SERPINF1 | c.1111A>G (p.Thr371Ala) n.407A>G c.550A>G (p.Thr184Ala) | |
| 17 | g.1777300A>T | CA397590886 | SERPINF1 | c.1111A>T (p.Thr371Ser) n.407A>T c.550A>T (p.Thr184Ser) | |
| 17 | g.1777300_1777301insGCG | CA2560833545 | SERPINF1 | c.1111_1112insGCG (p.Thr371delinsSerAla) n.407_408insGCG c.550_551insGCG (p.Thr184delinsSerAla) | |
| 17 | g.1777301C>A | CA397590895 | SERPINF1 | c.1112C>A (p.Thr371Asn) n.408C>A c.551C>A (p.Thr184Asn) | gnomAD v4 |
| 17 | g.1777301C= | CA2243034336 | SERPINF1 | c.1112C= (p.Thr371=) n.408C= c.551C= (p.Thr184=) | |
| 17 | g.1777301C>G | CA8274962 | SERPINF1 | c.1112C>G (p.Thr371Ser) n.408C>G c.551C>G (p.Thr184Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777301C>T | CA8274961 | SERPINF1 | c.1112C>T (p.Thr371Ile) n.408C>T c.551C>T (p.Thr184Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777301_1777302insT | CA2635274649 | SERPINF1 | c.1112_1113insT (p.Thr372HisfsTer20) n.408_409insT c.551_552insT (p.Thr185HisfsTer20) | gnomAD v4 |
| 17 | g.1777302C>A | CA497390635 | SERPINF1 | c.1113C>A (p.Thr371=) n.409C>A c.552C>A (p.Thr184=) | |
| 17 | g.1777302C= | CA2243034339 | SERPINF1 | c.1113C= (p.Thr371=) n.409C= c.552C= (p.Thr184=) | |
| 17 | g.1777302C>G | CA497390636 | SERPINF1 | c.1113C>G (p.Thr371=) n.409C>G c.552C>G (p.Thr184=) | |
| 17 | g.1777302C>T | CA497390638 | SERPINF1 | c.1113C>T (p.Thr371=) n.409C>T c.552C>T (p.Thr184=) | dbSNP |
| 17 | g.1777303A= | CA2243034343 | SERPINF1 | c.1114A= (p.Thr372=) n.410A= c.553A= (p.Thr185=) | |
| 17 | g.1777303A>C | CA397590901 | SERPINF1 | c.1114A>C (p.Thr372Pro) n.410A>C c.553A>C (p.Thr185Pro) | dbSNP |
| 17 | g.1777303A>G | CA397590902 | SERPINF1 | c.1114A>G (p.Thr372Ala) n.410A>G c.553A>G (p.Thr185Ala) | |
| 17 | g.1777303A>T | CA397590904 | SERPINF1 | c.1114A>T (p.Thr372Ser) n.410A>T c.553A>T (p.Thr185Ser) | |
| 17 | g.1777303_1777304delinsAC | CA2243034342 | SERPINF1 | c.1114_1115delinsAC (p.Thr372=) n.410_411delinsAC c.553_554delinsAC (p.Thr185=) | |
| 17 | g.1777304C>A | CA397590906 | SERPINF1 | c.1115C>A (p.Thr372Asn) n.411C>A c.554C>A (p.Thr185Asn) | |
| 17 | g.1777304C>G | CA397590909 | SERPINF1 | c.1115C>G (p.Thr372Ser) n.411C>G c.554C>G (p.Thr185Ser) | |
| 17 | g.1777304C>T | CA397590912 | SERPINF1 | c.1115C>T (p.Thr372Ile) n.411C>T c.554C>T (p.Thr185Ile) | |
| 17 | g.1777308dup | CA2243034346 | SERPINF1 | c.1119dup (p.Ser374GlnfsTer18) n.415dup c.558dup (p.Ser187GlnfsTer18) | dbSNP gnomAD v4 |
| 17 | g.1777308del | CA726615630 | SERPINF1 | c.1119del (p.Ser374AlafsTer25) n.415del c.558del (p.Ser187AlafsTer25) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1777307_1777308del | CA2695224102 | SERPINF1 | c.1118_1119del (p.Pro373GlnfsTer18) n.414_415del c.557_558del (p.Pro186GlnfsTer18) | |
| 17 | g.1777305C>A | CA497390643 | SERPINF1 | c.1116C>A (p.Thr372=) n.412C>A c.555C>A (p.Thr185=) | gnomAD v4 |
| 17 | g.1777305C>G | CA497390644 | SERPINF1 | c.1116C>G (p.Thr372=) n.412C>G c.555C>G (p.Thr185=) | |
| 17 | g.1777305C>T | CA497390642 | SERPINF1 | c.1116C>T (p.Thr372=) n.412C>T c.555C>T (p.Thr185=) | |
| 17 | g.1777306C>A | CA397590915 | SERPINF1 | c.1117C>A (p.Pro373Thr) n.413C>A c.556C>A (p.Pro186Thr) | |
| 17 | g.1777306C>G | CA397590917 | SERPINF1 | c.1117C>G (p.Pro373Ala) n.413C>G c.556C>G (p.Pro186Ala) | |
| 17 | g.1777306C>T | CA397590919 | SERPINF1 | c.1117C>T (p.Pro373Ser) n.413C>T c.556C>T (p.Pro186Ser) | |
| 17 | g.1777307C>A | CA397590922 | SERPINF1 | c.1118C>A (p.Pro373His) n.414C>A c.557C>A (p.Pro186His) | |
| 17 | g.1777307C= | CA2243034348 | SERPINF1 | c.1118C= (p.Pro373=) n.414C= c.557C= (p.Pro186=) | |
| 17 | g.1777307C>G | CA397590923 | SERPINF1 | c.1118C>G (p.Pro373Arg) n.414C>G c.557C>G (p.Pro186Arg) | |
| 17 | g.1777307C>T | CA397590925 | SERPINF1 | c.1118C>T (p.Pro373Leu) n.414C>T c.557C>T (p.Pro186Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1777308C>A | CA497390648 | SERPINF1 | c.1119C>A (p.Pro373=) n.415C>A c.558C>A (p.Pro186=) | |
| 17 | g.1777308C= | CA2243034350 | SERPINF1 | c.1119C= (p.Pro373=) n.415C= c.558C= (p.Pro186=) | |
| 17 | g.1777308C>G | CA8274963 | SERPINF1 | c.1119C>G (p.Pro373=) n.415C>G c.558C>G (p.Pro186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777308C>T | CA497390647 | SERPINF1 | c.1119C>T (p.Pro373=) n.415C>T c.558C>T (p.Pro186=) | |
| 17 | g.1777309A>C | CA397590935 | SERPINF1 | c.1120A>C (p.Ser374Arg) n.416A>C c.559A>C (p.Ser187Arg) | |
| 17 | g.1777309A>G | CA397590930 | SERPINF1 | c.1120A>G (p.Ser374Gly) n.416A>G c.559A>G (p.Ser187Gly) | |
| 17 | g.1777309A>T | CA397590932 | SERPINF1 | c.1120A>T (p.Ser374Cys) n.416A>T c.559A>T (p.Ser187Cys) | |
| 17 | g.1777310G>A | CA397590938 | SERPINF1 | c.1121G>A (p.Ser374Asn) n.417G>A c.560G>A (p.Ser187Asn) | |
| 17 | g.1777310G>C | CA397590940 | SERPINF1 | c.1121G>C (p.Ser374Thr) n.417G>C c.560G>C (p.Ser187Thr) | |
| 17 | g.1777310G>T | CA397590942 | SERPINF1 | c.1121G>T (p.Ser374Ile) n.417G>T c.560G>T (p.Ser187Ile) | |
| 17 | g.1777311C>A | CA286852343 | SERPINF1 | c.1122C>A (p.Ser374Arg) n.418C>A c.561C>A (p.Ser187Arg) | dbSNP |
| 17 | g.1777311C= | CA2243034352 | SERPINF1 | c.1122C= (p.Ser374=) n.418C= c.561C= (p.Ser187=) | |
| 17 | g.1777311C>G | CA397590950 | SERPINF1 | c.1122C>G (p.Ser374Arg) n.418C>G c.561C>G (p.Ser187Arg) | |
| 17 | g.1777311C>T | CA497390650 | SERPINF1 | c.1122C>T (p.Ser374=) n.418C>T c.561C>T (p.Ser187=) | gnomAD v4 |
| 17 | g.1777312C>A | CA397590953 | SERPINF1 | c.1123C>A (p.Pro375Thr) n.419C>A c.562C>A (p.Pro188Thr) | |
| 17 | g.1777312C= | CA2243034354 | SERPINF1 | c.1123C= (p.Pro375=) n.419C= c.562C= (p.Pro188=) | |
| 17 | g.1777312C>G | CA286852363 | SERPINF1 | c.1123C>G (p.Pro375Ala) n.419C>G c.562C>G (p.Pro188Ala) | dbSNP |
| 17 | g.1777312C>T | CA397590955 | SERPINF1 | c.1123C>T (p.Pro375Ser) n.419C>T c.562C>T (p.Pro188Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1777313C>A | CA397590957 | SERPINF1 | c.1124C>A (p.Pro375Gln) n.420C>A c.563C>A (p.Pro188Gln) | |
| 17 | g.1777313C= | CA2243034357 | SERPINF1 | c.1124C= (p.Pro375=) n.420C= c.563C= (p.Pro188=) | |
| 17 | g.1777313C>G | CA397590959 | SERPINF1 | c.1124C>G (p.Pro375Arg) n.420C>G c.563C>G (p.Pro188Arg) | |
| 17 | g.1777313C>T | CA8274964 | SERPINF1 | c.1124C>T (p.Pro375Leu) n.420C>T c.563C>T (p.Pro188Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1777314A>C | CA497390652 | SERPINF1 | c.1125A>C (p.Pro375=) n.421A>C c.564A>C (p.Pro188=) | |
| 17 | g.1777314A>G | CA497390653 | SERPINF1 | c.1125A>G (p.Pro375=) n.421A>G c.564A>G (p.Pro188=) | ClinVar |
| 17 | g.1777314A>T | CA497390654 | SERPINF1 | c.1125A>T (p.Pro375=) n.421A>T c.564A>T (p.Pro188=) | |
| 17 | g.1777315G>A | CA397590966 | SERPINF1 | c.1126G>A (p.Gly376Arg) n.422G>A c.565G>A (p.Gly189Arg) | |
| 17 | g.1777315G>C | CA397590964 | SERPINF1 | c.1126G>C (p.Gly376Arg) n.422G>C c.565G>C (p.Gly189Arg) | dbSNP gnomAD v4 |
| 17 | g.1777315G= | CA2243034359 | SERPINF1 | c.1126G= (p.Gly376=) n.422G= c.565G= (p.Gly189=) | |
| 17 | g.1777315G>T | CA397590963 | SERPINF1 | c.1126G>T (p.Gly376Trp) n.422G>T c.565G>T (p.Gly189Trp) | |
| 17 | g.1777316G>A | CA397590969 | SERPINF1 | c.1127G>A (p.Gly376Glu) n.423G>A c.566G>A (p.Gly189Glu) | |
| 17 | g.1777316G>C | CA397590971 | SERPINF1 | c.1127G>C (p.Gly376Ala) n.423G>C c.566G>C (p.Gly189Ala) | |
| 17 | g.1777316G>T | CA397590974 | SERPINF1 | c.1127G>T (p.Gly376Val) n.423G>T c.566G>T (p.Gly189Val) | |
| 17 | g.1777317G>A | CA497390655 | SERPINF1 | c.1128G>A (p.Gly376=) n.424G>A c.567G>A (p.Gly189=) | |
| 17 | g.1777317G>C | CA497390656 | SERPINF1 | c.1128G>C (p.Gly376=) n.424G>C c.567G>C (p.Gly189=) | |
| 17 | g.1777317G>T | CA497390657 | SERPINF1 | c.1128G>T (p.Gly376=) n.424G>T c.567G>T (p.Gly189=) | gnomAD v4 |
| 17 | g.1777318C>A | CA397590977 | SERPINF1 | c.1129C>A (p.Leu377Met) n.425C>A c.568C>A (p.Leu190Met) | |
| 17 | g.1777318C= | CA2243034361 | SERPINF1 | c.1129C= (p.Leu377=) n.425C= c.568C= (p.Leu190=) | |
| 17 | g.1777318C>G | CA397590979 | SERPINF1 | c.1129C>G (p.Leu377Val) n.425C>G c.568C>G (p.Leu190Val) | |
| 17 | g.1777318C>T | CA286852374 | SERPINF1 | c.1129C>T (p.Leu377=) n.425C>T c.568C>T (p.Leu190=) | dbSNP |
| 17 | g.1777319T>A | CA397590981 | SERPINF1 | c.1130T>A (p.Leu377Gln) n.426T>A c.569T>A (p.Leu190Gln) | |
| 17 | g.1777319T>C | CA397590983 | SERPINF1 | c.1130T>C (p.Leu377Pro) n.426T>C c.569T>C (p.Leu190Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1777319T>G | CA397590985 | SERPINF1 | c.1130T>G (p.Leu377Arg) n.426T>G c.569T>G (p.Leu190Arg) | |
| 17 | g.1777319T= | CA2243034363 | SERPINF1 | c.1130T= (p.Leu377=) n.426T= c.569T= (p.Leu190=) | |
| 17 | g.1777320G>A | CA8274965 | SERPINF1 | c.1131G>A (p.Leu377=) n.427G>A c.570G>A (p.Leu190=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1777320G>C | CA497390661 | SERPINF1 | c.1131G>C (p.Leu377=) n.427G>C c.570G>C (p.Leu190=) | |
| 17 | g.1777320G= | CA2243034364 | SERPINF1 | c.1131G= (p.Leu377=) n.427G= c.570G= (p.Leu190=) | |
| 17 | g.1777320G>T | CA497390663 | SERPINF1 | c.1131G>T (p.Leu377=) n.427G>T c.570G>T (p.Leu190=) | |
| 17 | g.1777321C>A | CA397590987 | SERPINF1 | c.1132C>A (p.Gln378Lys) n.428C>A c.571C>A (p.Gln191Lys) | |
| 17 | g.1777321C= | CA2243034374 | SERPINF1 | c.1132C= (p.Gln378=) n.428C= c.571C= (p.Gln191=) | |
| 17 | g.1777321C>G | CA397590988 | SERPINF1 | c.1132C>G (p.Gln378Glu) n.428C>G c.571C>G (p.Gln191Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777321C>T | CA128686 | SERPINF1 | c.1132C>T (p.Gln378Ter) n.428C>T c.571C>T (p.Gln191Ter) | ClinVar dbSNP |