| 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.173914570G>A | CA210787 | SERPINC1 | c.391C>T (p.Leu131Phe) n.96C>T n.617C>T c.247C>T (p.Leu83Phe) c.472C>T (p.Leu158Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914570G>C | CA343777244 | SERPINC1 | c.391C>G (p.Leu131Val) n.96C>G n.617C>G c.247C>G (p.Leu83Val) c.472C>G (p.Leu158Val) | |
| 1 | g.173914570G= | CA1141581227 | SERPINC1 | c.391C= (p.Leu131=) n.96C= n.617C= c.247C= (p.Leu83=) c.472C= (p.Leu158=) | |
| 1 | g.173914570G>T | CA343777245 | SERPINC1 | c.391C>A (p.Leu131Ile) n.96C>A n.617C>A c.247C>A (p.Leu83Ile) c.472C>A (p.Leu158Ile) | |
| 1 | g.173914571G>A | CA421823352 | SERPINC1 | c.390C>T (p.Thr130=) n.95C>T n.616C>T c.246C>T (p.Thr82=) c.471C>T (p.Thr157=) | dbSNP |
| 1 | g.173914571G>C | CA421823354 | SERPINC1 | c.390C>G (p.Thr130=) n.95C>G n.616C>G c.246C>G (p.Thr82=) c.471C>G (p.Thr157=) | gnomAD v4 |
| 1 | g.173914571G= | CA1207938919 | SERPINC1 | c.390C= (p.Thr130=) n.95C= n.616C= c.246C= (p.Thr82=) c.471C= (p.Thr157=) | |
| 1 | g.173914571G>T | CA421823356 | SERPINC1 | c.390C>A (p.Thr130=) n.95C>A n.616C>A c.246C>A (p.Thr82=) c.471C>A (p.Thr157=) | |
| 1 | g.173914572G>A | CA343777247 | SERPINC1 | c.389C>T (p.Thr130Ile) n.94C>T n.615C>T c.245C>T (p.Thr82Ile) c.470C>T (p.Thr157Ile) | dbSNP |
| 1 | g.173914572G>C | CA343777249 | SERPINC1 | c.389C>G (p.Thr130Ser) n.94C>G n.615C>G c.245C>G (p.Thr82Ser) c.470C>G (p.Thr157Ser) | |
| 1 | g.173914572G= | CA1207938920 | SERPINC1 | c.389C= (p.Thr130=) n.94C= n.615C= c.245C= (p.Thr82=) c.470C= (p.Thr157=) | |
| 1 | g.173914572G>T | CA343777251 | SERPINC1 | c.389C>A (p.Thr130Asn) n.94C>A n.615C>A c.245C>A (p.Thr82Asn) c.470C>A (p.Thr157Asn) | |
| 1 | g.173914573T>A | CA343777256 | SERPINC1 | c.388A>T (p.Thr130Ser) n.93A>T n.614A>T c.244A>T (p.Thr82Ser) c.469A>T (p.Thr157Ser) | |
| 1 | g.173914573T>C | CA343777253 | SERPINC1 | c.388A>G (p.Thr130Ala) n.93A>G n.614A>G c.244A>G (p.Thr82Ala) c.469A>G (p.Thr157Ala) | |
| 1 | g.173914573T>G | CA343777255 | SERPINC1 | c.388A>C (p.Thr130Pro) n.93A>C n.614A>C c.244A>C (p.Thr82Pro) c.469A>C (p.Thr157Pro) | dbSNP |
| 1 | g.173914573T= | CA1207938921 | SERPINC1 | c.388A= (p.Thr130=) n.93A= n.614A= c.244A= (p.Thr82=) c.469A= (p.Thr157=) | |
| 1 | g.173914574G>A | CA421823358 | SERPINC1 | c.387C>T (p.Asp129=) n.92C>T n.613C>T c.243C>T (p.Asp81=) c.468C>T (p.Asp156=) | |
| 1 | g.173914574G>C | CA343777258 | SERPINC1 | c.387C>G (p.Asp129Glu) n.92C>G n.613C>G c.243C>G (p.Asp81Glu) c.468C>G (p.Asp156Glu) | |
| 1 | g.173914574G>T | CA343777259 | SERPINC1 | c.387C>A (p.Asp129Glu) n.92C>A n.613C>A c.243C>A (p.Asp81Glu) c.468C>A (p.Asp156Glu) | |
| 1 | g.173914575T>A | CA343777261 | SERPINC1 | c.386A>T (p.Asp129Val) n.91A>T n.612A>T c.242A>T (p.Asp81Val) c.467A>T (p.Asp156Val) | |
| 1 | g.173914575T>C | CA343777263 | SERPINC1 | c.386A>G (p.Asp129Gly) n.91A>G n.612A>G c.242A>G (p.Asp81Gly) c.467A>G (p.Asp156Gly) | |
| 1 | g.173914575T>G | CA343777265 | SERPINC1 | c.386A>C (p.Asp129Ala) n.91A>C n.612A>C c.242A>C (p.Asp81Ala) c.467A>C (p.Asp156Ala) | |
| 1 | g.173914576C>A | CA343777267 | SERPINC1 | c.385G>T (p.Asp129Tyr) n.90G>T n.611G>T c.241G>T (p.Asp81Tyr) c.466G>T (p.Asp156Tyr) | |
| 1 | g.173914576C>G | CA343777269 | SERPINC1 | c.385G>C (p.Asp129His) n.90G>C n.611G>C c.241G>C (p.Asp81His) c.466G>C (p.Asp156His) | |
| 1 | g.173914576C>T | CA343777271 | SERPINC1 | c.385G>A (p.Asp129Asn) n.90G>A n.611G>A c.241G>A (p.Asp81Asn) c.466G>A (p.Asp156Asn) | |
| 1 | g.173914577A= | CA1207938922 | SERPINC1 | c.384T= (p.Asn128=) n.89T= n.610T= c.240T= (p.Asn80=) c.465T= (p.Asn155=) | |
| 1 | g.173914577A>C | CA343777272 | SERPINC1 | c.384T>G (p.Asn128Lys) n.89T>G n.610T>G c.240T>G (p.Asn80Lys) c.465T>G (p.Asn155Lys) | |
| 1 | g.173914577A>G | CA421823364 | SERPINC1 | c.384T>C (p.Asn128=) n.89T>C n.610T>C c.240T>C (p.Asn80=) c.465T>C (p.Asn155=) | dbSNP |
| 1 | g.173914577A>T | CA343777274 | SERPINC1 | c.384T>A (p.Asn128Lys) n.89T>A n.610T>A c.240T>A (p.Asn80Lys) c.465T>A (p.Asn155Lys) | |
| 1 | g.173914578T>A | CA343777275 | SERPINC1 | c.383A>T (p.Asn128Ile) n.88A>T n.609A>T c.239A>T (p.Asn80Ile) c.464A>T (p.Asn155Ile) | |
| 1 | g.173914578T>C | CA343777277 | SERPINC1 | c.383A>G (p.Asn128Ser) n.88A>G n.609A>G c.239A>G (p.Asn80Ser) c.464A>G (p.Asn155Ser) | |
| 1 | g.173914578T>G | CA343777279 | SERPINC1 | c.383A>C (p.Asn128Thr) n.88A>C n.609A>C c.239A>C (p.Asn80Thr) c.464A>C (p.Asn155Thr) | |
| 1 | g.173914579T>A | CA343777281 | SERPINC1 | c.382A>T (p.Asn128Tyr) n.87A>T n.608A>T c.238A>T (p.Asn80Tyr) c.463A>T (p.Asn155Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914579T>C | CA343777283 | SERPINC1 | c.382A>G (p.Asn128Asp) n.87A>G n.608A>G c.238A>G (p.Asn80Asp) c.463A>G (p.Asn155Asp) | |
| 1 | g.173914579T>G | CA343777282 | SERPINC1 | c.382A>C (p.Asn128His) n.87A>C n.608A>C c.238A>C (p.Asn80His) c.463A>C (p.Asn155His) | |
| 1 | g.173914579T= | CA1207938923 | SERPINC1 | c.382A= (p.Asn128=) n.87A= n.608A= c.238A= (p.Asn80=) c.463A= (p.Asn155=) | |
| 1 | g.173914580A>C | CA343777285 | SERPINC1 | c.381T>G (p.Cys127Trp) n.86T>G n.607T>G c.237T>G (p.Cys79Trp) c.462T>G (p.Cys154Trp) | |
| 1 | g.173914580A>G | CA421823368 | SERPINC1 | c.381T>C (p.Cys127=) n.86T>C n.607T>C c.237T>C (p.Cys79=) c.462T>C (p.Cys154=) | |
| 1 | g.173914580A>T | CA343777287 | SERPINC1 | c.381T>A (p.Cys127Ter) n.86T>A n.607T>A c.237T>A (p.Cys79Ter) c.462T>A (p.Cys154Ter) | ClinVar dbSNP |
| 1 | g.173914581C>A | CA343777289 | SERPINC1 | c.380G>T (p.Cys127Phe) n.85G>T n.606G>T c.236G>T (p.Cys79Phe) c.461G>T (p.Cys154Phe) | |
| 1 | g.173914581C= | CA1207938924 | SERPINC1 | c.380G= (p.Cys127=) n.85G= n.606G= c.236G= (p.Cys79=) c.461G= (p.Cys154=) | |
| 1 | g.173914581C>G | CA343777290 | SERPINC1 | c.380G>C (p.Cys127Ser) n.85G>C n.606G>C c.236G>C (p.Cys79Ser) c.461G>C (p.Cys154Ser) | |
| 1 | g.173914581C>T | CA343777291 | SERPINC1 | c.380G>A (p.Cys127Tyr) n.85G>A n.606G>A c.236G>A (p.Cys79Tyr) c.461G>A (p.Cys154Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914582A= | CA1141581229 | SERPINC1 | c.379T= (p.Cys127=) n.84T= n.605T= c.235T= (p.Cys79=) c.460T= (p.Cys154=) | |
| 1 | g.173914582A>C | CA343777294 | SERPINC1 | c.379T>G (p.Cys127Gly) n.84T>G n.605T>G c.235T>G (p.Cys79Gly) c.460T>G (p.Cys154Gly) |