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 |
|---|---|---|---|---|---|
| 1 | g.173908360_173915405del | CA2573051419 | SERPINC1 | c.42-486_1154-846del c.42-486_560-867del c.-272-219_1010-846del c.42-486_1277-846del c.123-486_1235-846del c.42-486_1133-846del c.42-486_1097-846del c.42-486_938-846del | ClinVar |
| 1 | g.173911379_173915115del | CA2573051422 | SERPINC1 | c.42-196_624+420del c.42-196_559+485del c.-201_480+420del c.123-196_705+420del c.42-196_409-488del | |
| 1 | g.173911749_173917428del | CA1139655524 | ClinVar | ||
| 1 | g.173912151_173919034dup | CA2580611212 | |||
| 1 | g.173914640_173922032del | CA2573051424 | ClinVar | ||
| 1 | g.173914899A>C | CA343778545 | SERPINC1 | c.62T>G (p.Leu21Trp) n.288T>G c.-83T>G (n.-83T>G) c.143T>G (p.Leu48Trp) | |
| 1 | g.173914899A>G | CA343778546 | SERPINC1 | c.62T>C (p.Leu21Ser) n.288T>C c.-83T>C (n.-83T>C) c.143T>C (p.Leu48Ser) | gnomAD v4 |
| 1 | g.173914899A>T | CA343778548 | SERPINC1 | c.62T>A (p.Leu21Ter) n.288T>A c.-83T>A (n.-83T>A) c.143T>A (p.Leu48Ter) | |
| 1 | g.173914899_173914900dup | CA2586964451 | SERPINC1 | c.61_62dup (p.Leu21PhefsTer11) n.287_288dup c.-84_-83dup (n.-84_-83dup) c.142_143dup (p.Leu48PhefsTer11) | |
| 1 | g.173914900A>C | CA343778550 | SERPINC1 | c.61T>G (p.Leu21Val) n.287T>G c.-84T>G (n.-84T>G) c.142T>G (p.Leu48Val) | |
| 1 | g.173914900A>G | CA421942688 | SERPINC1 | c.61T>C (p.Leu21=) n.287T>C c.-84T>C (n.-84T>C) c.142T>C (p.Leu48=) | |
| 1 | g.173914900A>T | CA343778552 | SERPINC1 | c.61T>A (p.Leu21Met) n.287T>A c.-84T>A (n.-84T>A) c.142T>A (p.Leu48Met) | |
| 1 | g.173914901G>A | CA421942689 | SERPINC1 | c.60C>T (p.Ser20=) n.286C>T c.-85C>T (n.-85C>T) c.141C>T (p.Ser47=) | |
| 1 | g.173914901G>C | CA421942690 | SERPINC1 | c.60C>G (p.Ser20=) n.286C>G c.-85C>G (n.-85C>G) c.141C>G (p.Ser47=) | |
| 1 | g.173914901G>T | CA421942691 | SERPINC1 | c.60C>A (p.Ser20=) n.286C>A c.-85C>A (n.-85C>A) c.141C>A (p.Ser47=) | |
| 1 | g.173914902G>A | CA1251473 | SERPINC1 | c.59C>T (p.Ser20Phe) n.285C>T c.-86C>T (n.-86C>T) c.140C>T (p.Ser47Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914902G>C | CA343778554 | SERPINC1 | c.59C>G (p.Ser20Cys) n.285C>G c.-86C>G (n.-86C>G) c.140C>G (p.Ser47Cys) | |
| 1 | g.173914902G= | CA1143689711 | SERPINC1 | c.59C= (p.Ser20=) n.285C= c.-86C= (n.-86C=) c.140C= (p.Ser47=) | |
| 1 | g.173914902G>T | CA343778556 | SERPINC1 | c.59C>A (p.Ser20Tyr) n.285C>A c.-86C>A (n.-86C>A) c.140C>A (p.Ser47Tyr) | |
| 1 | g.173914903A>C | CA343778561 | SERPINC1 | c.58T>G (p.Ser20Ala) n.284T>G c.-87T>G (n.-87T>G) c.139T>G (p.Ser47Ala) | |
| 1 | g.173914903A>G | CA343778559 | SERPINC1 | c.58T>C (p.Ser20Pro) n.284T>C c.-87T>C (n.-87T>C) c.139T>C (p.Ser47Pro) | |
| 1 | g.173914903A>T | CA343778557 | SERPINC1 | c.58T>A (p.Ser20Thr) n.284T>A c.-87T>A (n.-87T>A) c.139T>A (p.Ser47Thr) | |
| 1 | g.173914904C>A | CA343778563 | SERPINC1 | c.57G>T (p.Leu19Phe) n.283G>T c.-88G>T (n.-88G>T) c.138G>T (p.Leu46Phe) | |
| 1 | g.173914904C>G | CA343778564 | SERPINC1 | c.57G>C (p.Leu19Phe) n.283G>C c.-88G>C (n.-88G>C) c.138G>C (p.Leu46Phe) | |
| 1 | g.173914904C>T | CA421942692 | SERPINC1 | c.57G>A (p.Leu19=) n.283G>A c.-88G>A (n.-88G>A) c.138G>A (p.Leu46=) | |
| 1 | g.173914905A>C | CA343778566 | SERPINC1 | c.56T>G (p.Leu19Trp) n.282T>G c.-89T>G (n.-89T>G) c.137T>G (p.Leu46Trp) | |
| 1 | g.173914905A>G | CA343778569 | SERPINC1 | c.56T>C (p.Leu19Ser) n.282T>C c.-89T>C (n.-89T>C) c.137T>C (p.Leu46Ser) | gnomAD v4 |
| 1 | g.173914905A>T | CA343778570 | SERPINC1 | c.56T>A (p.Leu19Ter) n.282T>A c.-89T>A (n.-89T>A) c.137T>A (p.Leu46Ter) | |
| 1 | g.173914906A>C | CA343778571 | SERPINC1 | c.55T>G (p.Leu19Val) n.281T>G c.-90T>G (n.-90T>G) c.136T>G (p.Leu46Val) | |
| 1 | g.173914906A>G | CA421942693 | SERPINC1 | c.55T>C (p.Leu19=) n.281T>C c.-90T>C (n.-90T>C) c.136T>C (p.Leu46=) | |
| 1 | g.173914906A>T | CA343778573 | SERPINC1 | c.55T>A (p.Leu19Met) n.281T>A c.-90T>A (n.-90T>A) c.136T>A (p.Leu46Met) | |
| 1 | g.173914907_173914910dup | CA2586964452 | SERPINC1 | c.52_55dup (p.Leu19SerfsTer?) n.278_281dup c.-93_-90dup (n.-93_-90dup) c.133_136dup (p.Leu46SerfsTer?) | |
| 1 | g.173914906_173916922del | CA2573051425 | SERPINC1 | c.41+297_55del n.98+297_281del c.-273+297_-90del c.24+314_136del | ClinVar |
| 1 | g.173914907A>C | CA421942694 | SERPINC1 | c.54T>G (p.Leu18=) n.280T>G c.-91T>G (n.-91T>G) c.135T>G (p.Leu45=) | |
| 1 | g.173914907A>G | CA421942695 | SERPINC1 | c.54T>C (p.Leu18=) n.280T>C c.-91T>C (n.-91T>C) c.135T>C (p.Leu45=) | |
| 1 | g.173914907A>T | CA421942696 | SERPINC1 | c.54T>A (p.Leu18=) n.280T>A c.-91T>A (n.-91T>A) c.135T>A (p.Leu45=) | |
| 1 | g.173914908A>C | CA343778575 | SERPINC1 | c.53T>G (p.Leu18Arg) n.279T>G c.-92T>G (n.-92T>G) c.134T>G (p.Leu45Arg) | |
| 1 | g.173914908A>G | CA343778576 | SERPINC1 | c.53T>C (p.Leu18Pro) n.279T>C c.-92T>C (n.-92T>C) c.134T>C (p.Leu45Pro) | |
| 1 | g.173914908A>T | CA343778578 | SERPINC1 | c.53T>A (p.Leu18His) n.279T>A c.-92T>A (n.-92T>A) c.134T>A (p.Leu45His) | |
| 1 | g.173914909G>A | CA343778580 | SERPINC1 | c.52C>T (p.Leu18Phe) n.278C>T c.-93C>T (n.-93C>T) c.133C>T (p.Leu45Phe) | |
| 1 | g.173914909G>C | CA343778581 | SERPINC1 | c.52C>G (p.Leu18Val) n.278C>G c.-93C>G (n.-93C>G) c.133C>G (p.Leu45Val) | |
| 1 | g.173914909G>T | CA343778583 | SERPINC1 | c.52C>A (p.Leu18Ile) n.278C>A c.-93C>A (n.-93C>A) c.133C>A (p.Leu45Ile) | |
| 1 | g.173914909_173914911dup | CA2697554663 | SERPINC1 | c.50_52dup (p.Tyr17_Leu18insHis) n.276_278dup c.-95_-93dup (n.-95_-93dup) c.131_133dup (p.Tyr44_Leu45insHis) | ClinVar |
| 1 | g.173914910A>C | CA343778585 | SERPINC1 | c.51T>G (p.Tyr17Ter) n.277T>G c.-94T>G (n.-94T>G) c.132T>G (p.Tyr44Ter) | |
| 1 | g.173914910A>G | CA421942697 | SERPINC1 | c.51T>C (p.Tyr17=) n.277T>C c.-94T>C (n.-94T>C) c.132T>C (p.Tyr44=) | ClinVar dbSNP |
| 1 | g.173914910A>T | CA343778586 | SERPINC1 | c.51T>A (p.Tyr17Ter) n.277T>A c.-94T>A (n.-94T>A) c.132T>A (p.Tyr44Ter) | |
| 1 | g.173914911T>A | CA343778587 | SERPINC1 | c.50A>T (p.Tyr17Phe) n.276A>T c.-95A>T (n.-95A>T) c.131A>T (p.Tyr44Phe) | |
| 1 | g.173914911T>C | CA1251474 | SERPINC1 | c.50A>G (p.Tyr17Cys) n.276A>G c.-95A>G (n.-95A>G) c.131A>G (p.Tyr44Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914911T>G | CA343778590 | SERPINC1 | c.50A>C (p.Tyr17Ser) n.276A>C c.-95A>C (n.-95A>C) c.131A>C (p.Tyr44Ser) | |
| 1 | g.173914911T= | CA1207939044 | SERPINC1 | c.50A= (p.Tyr17=) n.276A= c.-95A= (n.-95A=) c.131A= (p.Tyr44=) |