| 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.173912552_173914879del | CA2573051423 | SERPINC1 | c.84_409-536del n.310_635-536del c.-61_265-536del c.165_490-536del c.84_409-1659del | ClinVar |
| 1 | g.173914640_173922032del | CA2573051424 | ClinVar | ||
| 1 | g.173914643_173914695del | CA2586963972 | SERPINC1 | c.266_318del (p.Arg89GlnfsTer22) n.492_544del c.122_174del (p.Arg41GlnfsTer22) c.347_399del (p.Arg116GlnfsTer22) | ClinVar |
| 1 | g.173914695C>A | CA343777723 | SERPINC1 | c.266G>T (p.Arg89Leu) n.492G>T c.122G>T (p.Arg41Leu) c.347G>T (p.Arg116Leu) | dbSNP gnomAD v4 COSMIC |
| 1 | g.173914695C= | CA1148246800 | SERPINC1 | c.266G= (p.Arg89=) n.492G= c.122G= (p.Arg41=) c.347G= (p.Arg116=) | |
| 1 | g.173914695C>G | CA343777725 | SERPINC1 | c.266G>C (p.Arg89Pro) n.492G>C c.122G>C (p.Arg41Pro) c.347G>C (p.Arg116Pro) | |
| 1 | g.173914695C>T | CA1251445 | SERPINC1 | c.266G>A (p.Arg89His) n.492G>A c.122G>A (p.Arg41His) c.347G>A (p.Arg116His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173914695_173914696delinsGC | CA2573051124 | SERPINC1 | c.265_266delinsGC (p.Arg89Ala) n.491_492delinsGC c.121_122delinsGC (p.Arg41Ala) c.346_347delinsGC (p.Arg116Ala) | |
| 1 | g.173914696G>A | CA1251446 | SERPINC1 | c.265C>T (p.Arg89Cys) n.491C>T c.121C>T (p.Arg41Cys) c.346C>T (p.Arg116Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914696G>C | CA343777728 | SERPINC1 | c.265C>G (p.Arg89Gly) n.491C>G c.121C>G (p.Arg41Gly) c.346C>G (p.Arg116Gly) | |
| 1 | g.173914696G= | CA1142168120 | SERPINC1 | c.265C= (p.Arg89=) n.491C= c.121C= (p.Arg41=) c.346C= (p.Arg116=) | |
| 1 | g.173914696G>T | CA343777730 | SERPINC1 | c.265C>A (p.Arg89Ser) n.491C>A c.121C>A (p.Arg41Ser) c.346C>A (p.Arg116Ser) | |
| 1 | g.173914697G>A | CA421943042 | SERPINC1 | c.264C>T (p.Ser88=) n.490C>T c.120C>T (p.Ser40=) c.345C>T (p.Ser115=) | |
| 1 | g.173914697G>C | CA421943043 | SERPINC1 | c.264C>G (p.Ser88=) n.490C>G c.120C>G (p.Ser40=) c.345C>G (p.Ser115=) | dbSNP |
| 1 | g.173914697G= | CA1207938957 | SERPINC1 | c.264C= (p.Ser88=) n.490C= c.120C= (p.Ser40=) c.345C= (p.Ser115=) | |
| 1 | g.173914697G>T | CA421943044 | SERPINC1 | c.264C>A (p.Ser88=) n.490C>A c.120C>A (p.Ser40=) c.345C>A (p.Ser115=) | |
| 1 | g.173914698G>A | CA343777732 | SERPINC1 | c.263C>T (p.Ser88Phe) n.489C>T c.119C>T (p.Ser40Phe) c.344C>T (p.Ser115Phe) | gnomAD v4 |
| 1 | g.173914698G>C | CA343777734 | SERPINC1 | c.263C>G (p.Ser88Cys) n.489C>G c.119C>G (p.Ser40Cys) c.344C>G (p.Ser115Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914698G= | CA1207938958 | SERPINC1 | c.263C= (p.Ser88=) n.489C= c.119C= (p.Ser40=) c.344C= (p.Ser115=) | |
| 1 | g.173914698G>T | CA1251447 | SERPINC1 | c.263C>A (p.Ser88Tyr) n.489C>A c.119C>A (p.Ser40Tyr) c.344C>A (p.Ser115Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914698_173914718del | CA2586964441 | SERPINC1 | c.243_263del (p.Trp81_Ser88delinsCys) n.469_489del c.99_119del (p.Trp33_Ser40delinsCys) c.324_344del (p.Trp108_Ser115delinsCys) | |
| 1 | g.173914698_173914719delinsT | CA2582342990 | SERPINC1 | c.242_263delinsA (p.Trp81_Ser88delinsTyr) n.468_489delinsA c.98_119delinsA (p.Trp33_Ser40delinsTyr) c.323_344delinsA (p.Trp108_Ser115delinsTyr) | |
| 1 | g.173914699A>C | CA343777735 | SERPINC1 | c.262T>G (p.Ser88Ala) n.488T>G c.118T>G (p.Ser40Ala) c.343T>G (p.Ser115Ala) | |
| 1 | g.173914699A>G | CA343777737 | SERPINC1 | c.262T>C (p.Ser88Pro) n.488T>C c.118T>C (p.Ser40Pro) c.343T>C (p.Ser115Pro) | |
| 1 | g.173914699A>T | CA343777739 | SERPINC1 | c.262T>A (p.Ser88Thr) n.488T>A c.118T>A (p.Ser40Thr) c.343T>A (p.Ser115Thr) | |
| 1 | g.173914700A= | CA1207938959 | SERPINC1 | c.261T= (p.Asn87=) n.487T= c.117T= (p.Asn39=) c.342T= (p.Asn114=) | |
| 1 | g.173914700A>C | CA343777741 | SERPINC1 | c.261T>G (p.Asn87Lys) n.487T>G c.117T>G (p.Asn39Lys) c.342T>G (p.Asn114Lys) | |
| 1 | g.173914700A>G | CA32782266 | SERPINC1 | c.261T>C (p.Asn87=) n.487T>C c.117T>C (p.Asn39=) c.342T>C (p.Asn114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914700A>T | CA343777742 | SERPINC1 | c.261T>A (p.Asn87Lys) n.487T>A c.117T>A (p.Asn39Lys) c.342T>A (p.Asn114Lys) | |
| 1 | g.173914700_173914702del | CA2582323034 | SERPINC1 | c.259_261del (p.Asn87del) n.485_487del c.115_117del (p.Asn39del) c.340_342del (p.Asn114del) | |
| 1 | g.173914701T>A | CA343777748 | SERPINC1 | c.260A>T (p.Asn87Ile) n.486A>T c.116A>T (p.Asn39Ile) c.341A>T (p.Asn114Ile) | |
| 1 | g.173914701T>C | CA343777746 | SERPINC1 | c.260A>G (p.Asn87Ser) n.486A>G c.116A>G (p.Asn39Ser) c.341A>G (p.Asn114Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173914701T>G | CA343777745 | SERPINC1 | c.260A>C (p.Asn87Thr) n.486A>C c.116A>C (p.Asn39Thr) c.341A>C (p.Asn114Thr) | |
| 1 | g.173914702T>A | CA343777750 | SERPINC1 | c.259A>T (p.Asn87Tyr) n.485A>T c.115A>T (p.Asn39Tyr) c.340A>T (p.Asn114Tyr) | |
| 1 | g.173914702T>C | CA343777751 | SERPINC1 | c.259A>G (p.Asn87Asp) n.485A>G c.115A>G (p.Asn39Asp) c.340A>G (p.Asn114Asp) | |
| 1 | g.173914702T>G | CA343777753 | SERPINC1 | c.259A>C (p.Asn87His) n.485A>C c.115A>C (p.Asn39His) c.340A>C (p.Asn114His) | |
| 1 | g.173914703G>A | CA421943048 | SERPINC1 | c.258C>T (p.Ala86=) n.484C>T c.114C>T (p.Ala38=) c.339C>T (p.Ala113=) | |
| 1 | g.173914703G>C | CA421943049 | SERPINC1 | c.258C>G (p.Ala86=) n.484C>G c.114C>G (p.Ala38=) c.339C>G (p.Ala113=) | |
| 1 | g.173914703G>T | CA421943050 | SERPINC1 | c.258C>A (p.Ala86=) n.484C>A c.114C>A (p.Ala38=) c.339C>A (p.Ala113=) | |
| 1 | g.173914704G>A | CA343777755 | SERPINC1 | c.257C>T (p.Ala86Val) n.483C>T c.113C>T (p.Ala38Val) c.338C>T (p.Ala113Val) | |
| 1 | g.173914704G>C | CA343777756 | SERPINC1 | c.257C>G (p.Ala86Gly) n.483C>G c.113C>G (p.Ala38Gly) c.338C>G (p.Ala113Gly) | |
| 1 | g.173914704G>T | CA343777758 | SERPINC1 | c.257C>A (p.Ala86Asp) n.483C>A c.113C>A (p.Ala38Asp) c.338C>A (p.Ala113Asp) | |
| 1 | g.173914705C>A | CA343777763 | SERPINC1 | c.256G>T (p.Ala86Ser) n.482G>T c.112G>T (p.Ala38Ser) c.337G>T (p.Ala113Ser) | |
| 1 | g.173914705C>G | CA343777760 | SERPINC1 | c.256G>C (p.Ala86Pro) n.482G>C c.112G>C (p.Ala38Pro) c.337G>C (p.Ala113Pro) | |
| 1 | g.173914705C>T | CA343777761 | SERPINC1 | c.256G>A (p.Ala86Thr) n.482G>A c.112G>A (p.Ala38Thr) c.337G>A (p.Ala113Thr) | |
| 1 | g.173914706C>A | CA343777765 | SERPINC1 | c.255G>T (p.Lys85Asn) n.481G>T c.111G>T (p.Lys37Asn) c.336G>T (p.Lys112Asn) |