| 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.173910345_173913622del | CA2573051421 | SERPINC1 | c.408+948_763-386del n.113+948_414-386del c.408+948_559+1536del c.264+948_619-386del c.408+948_885+303del c.489+948_844-386del c.408+948_742-386del c.408+948_762+426del c.408+948_547-386del | 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.173911842C>A | CA343776272 | SERPINC1 | c.581G>T (p.Ser194Ile) n.286G>T c.559+22G>T (n.559+22G>T) c.437G>T (p.Ser146Ile) c.662G>T (p.Ser221Ile) c.409-951G>T (n.409-951G>T) | |
| 1 | g.173911842C>G | CA343776275 | SERPINC1 | c.581G>C (p.Ser194Thr) n.286G>C c.559+22G>C (n.559+22G>C) c.437G>C (p.Ser146Thr) c.662G>C (p.Ser221Thr) c.409-951G>C (n.409-951G>C) | |
| 1 | g.173911842C>T | CA343776276 | SERPINC1 | c.581G>A (p.Ser194Asn) n.286G>A c.559+22G>A (n.559+22G>A) c.437G>A (p.Ser146Asn) c.662G>A (p.Ser221Asn) c.409-951G>A (n.409-951G>A) | gnomAD v4 |
| 1 | g.173911843T>A | CA343776278 | SERPINC1 | c.580A>T (p.Ser194Cys) n.285A>T c.559+21A>T (n.559+21A>T) c.436A>T (p.Ser146Cys) c.661A>T (p.Ser221Cys) c.409-952A>T (n.409-952A>T) | |
| 1 | g.173911843T>C | CA343776280 | SERPINC1 | c.580A>G (p.Ser194Gly) n.285A>G c.559+21A>G (n.559+21A>G) c.436A>G (p.Ser146Gly) c.661A>G (p.Ser221Gly) c.409-952A>G (n.409-952A>G) | gnomAD v4 |
| 1 | g.173911843T>G | CA343776281 | SERPINC1 | c.580A>C (p.Ser194Arg) n.285A>C c.559+21A>C (n.559+21A>C) c.436A>C (p.Ser146Arg) c.661A>C (p.Ser221Arg) c.409-952A>C (n.409-952A>C) | ClinVar |
| 1 | g.173911844G>A | CA421822967 | SERPINC1 | c.579C>T (p.Ile193=) n.284C>T c.559+20C>T (n.559+20C>T) c.435C>T (p.Ile145=) c.660C>T (p.Ile220=) c.409-953C>T (n.409-953C>T) | dbSNP |
| 1 | g.173911844G>C | CA343776283 | SERPINC1 | c.579C>G (p.Ile193Met) n.284C>G c.559+20C>G (n.559+20C>G) c.435C>G (p.Ile145Met) c.660C>G (p.Ile220Met) c.409-953C>G (n.409-953C>G) | |
| 1 | g.173911844G= | CA1207937804 | SERPINC1 | c.579C= (p.Ile193=) n.284C= c.559+20C= (n.559+20C=) c.435C= (p.Ile145=) c.660C= (p.Ile220=) c.409-953C= (n.409-953C=) | |
| 1 | g.173911844G>T | CA421822968 | SERPINC1 | c.579C>A (p.Ile193=) n.284C>A c.559+20C>A (n.559+20C>A) c.435C>A (p.Ile145=) c.660C>A (p.Ile220=) c.409-953C>A (n.409-953C>A) | |
| 1 | g.173911845A>C | CA343776285 | SERPINC1 | c.578T>G (p.Ile193Ser) n.283T>G c.559+19T>G (n.559+19T>G) c.434T>G (p.Ile145Ser) c.659T>G (p.Ile220Ser) c.409-954T>G (n.409-954T>G) | |
| 1 | g.173911845A>G | CA343776289 | SERPINC1 | c.578T>C (p.Ile193Thr) n.283T>C c.559+19T>C (n.559+19T>C) c.434T>C (p.Ile145Thr) c.659T>C (p.Ile220Thr) c.409-954T>C (n.409-954T>C) | |
| 1 | g.173911845A>T | CA343776287 | SERPINC1 | c.578T>A (p.Ile193Asn) n.283T>A c.559+19T>A (n.559+19T>A) c.434T>A (p.Ile145Asn) c.659T>A (p.Ile220Asn) c.409-954T>A (n.409-954T>A) | |
| 1 | g.173911846T>A | CA343776290 | SERPINC1 | c.577A>T (p.Ile193Phe) n.282A>T c.559+18A>T (n.559+18A>T) c.433A>T (p.Ile145Phe) c.658A>T (p.Ile220Phe) c.409-955A>T (n.409-955A>T) | |
| 1 | g.173911846T>C | CA343776294 | SERPINC1 | c.577A>G (p.Ile193Val) n.282A>G c.559+18A>G (n.559+18A>G) c.433A>G (p.Ile145Val) c.658A>G (p.Ile220Val) c.409-955A>G (n.409-955A>G) | dbSNP |
| 1 | g.173911846T>G | CA343776291 | SERPINC1 | c.577A>C (p.Ile193Leu) n.282A>C c.559+18A>C (n.559+18A>C) c.433A>C (p.Ile145Leu) c.658A>C (p.Ile220Leu) c.409-955A>C (n.409-955A>C) | |
| 1 | g.173911846T= | CA1207937805 | SERPINC1 | c.577A= (p.Ile193=) n.282A= c.559+18A= (n.559+18A=) c.433A= (p.Ile145=) c.658A= (p.Ile220=) c.409-955A= (n.409-955A=) | |
| 1 | g.173911847G>A | CA421822969 | SERPINC1 | c.576C>T (p.Asp192=) n.281C>T c.559+17C>T (n.559+17C>T) c.432C>T (p.Asp144=) c.657C>T (p.Asp219=) c.409-956C>T (n.409-956C>T) | dbSNP |
| 1 | g.173911847G>C | CA343776297 | SERPINC1 | c.576C>G (p.Asp192Glu) n.281C>G c.559+17C>G (n.559+17C>G) c.432C>G (p.Asp144Glu) c.657C>G (p.Asp219Glu) c.409-956C>G (n.409-956C>G) | |
| 1 | g.173911847G= | CA1207937806 | SERPINC1 | c.576C= (p.Asp192=) n.281C= c.559+17C= (n.559+17C=) c.432C= (p.Asp144=) c.657C= (p.Asp219=) c.409-956C= (n.409-956C=) | |
| 1 | g.173911847G>T | CA343776298 | SERPINC1 | c.576C>A (p.Asp192Glu) n.281C>A c.559+17C>A (n.559+17C>A) c.432C>A (p.Asp144Glu) c.657C>A (p.Asp219Glu) c.409-956C>A (n.409-956C>A) | |
| 1 | g.173911848T>A | CA343776300 | SERPINC1 | c.575A>T (p.Asp192Val) n.280A>T c.559+16A>T (n.559+16A>T) c.431A>T (p.Asp144Val) c.656A>T (p.Asp219Val) c.409-957A>T (n.409-957A>T) | |
| 1 | g.173911848T>C | CA343776302 | SERPINC1 | c.575A>G (p.Asp192Gly) n.280A>G c.559+16A>G (n.559+16A>G) c.431A>G (p.Asp144Gly) c.656A>G (p.Asp219Gly) c.409-957A>G (n.409-957A>G) | gnomAD v4 |
| 1 | g.173911848T>G | CA343776304 | SERPINC1 | c.575A>C (p.Asp192Ala) n.280A>C c.559+16A>C (n.559+16A>C) c.431A>C (p.Asp144Ala) c.656A>C (p.Asp219Ala) c.409-957A>C (n.409-957A>C) | |
| 1 | g.173911849C>A | CA343776308 | SERPINC1 | c.574G>T (p.Asp192Tyr) n.279G>T c.559+15G>T (n.559+15G>T) c.430G>T (p.Asp144Tyr) c.655G>T (p.Asp219Tyr) c.409-958G>T (n.409-958G>T) | |
| 1 | g.173911849C>G | CA343776310 | SERPINC1 | c.574G>C (p.Asp192His) n.279G>C c.559+15G>C (n.559+15G>C) c.430G>C (p.Asp144His) c.655G>C (p.Asp219His) c.409-958G>C (n.409-958G>C) | |
| 1 | g.173911849C>T | CA343776312 | SERPINC1 | c.574G>A (p.Asp192Asn) n.279G>A c.559+15G>A (n.559+15G>A) c.430G>A (p.Asp144Asn) c.655G>A (p.Asp219Asn) c.409-958G>A (n.409-958G>A) | |
| 1 | g.173911850C>A | CA343776315 | SERPINC1 | c.573G>T (p.Gln191His) n.278G>T c.559+14G>T (n.559+14G>T) c.429G>T (p.Gln143His) c.654G>T (p.Gln218His) c.409-959G>T (n.409-959G>T) | |
| 1 | g.173911850C= | CA1143537026 | SERPINC1 | c.573G= (p.Gln191=) n.278G= c.559+14G= (n.559+14G=) c.429G= (p.Gln143=) c.654G= (p.Gln218=) c.409-959G= (n.409-959G=) | |
| 1 | g.173911850C>G | CA343776317 | SERPINC1 | c.573G>C (p.Gln191His) n.278G>C c.559+14G>C (n.559+14G>C) c.429G>C (p.Gln143His) c.654G>C (p.Gln218His) c.409-959G>C (n.409-959G>C) | |
| 1 | g.173911850C>T | CA32781282 | SERPINC1 | c.573G>A (p.Gln191=) n.278G>A c.559+14G>A (n.559+14G>A) c.429G>A (p.Gln143=) c.654G>A (p.Gln218=) c.409-959G>A (n.409-959G>A) | dbSNP |
| 1 | g.173911851T>A | CA343776323 | SERPINC1 | c.572A>T (p.Gln191Leu) n.277A>T c.559+13A>T (n.559+13A>T) c.428A>T (p.Gln143Leu) c.653A>T (p.Gln218Leu) c.409-960A>T (n.409-960A>T) | |
| 1 | g.173911851T>C | CA343776322 | SERPINC1 | c.572A>G (p.Gln191Arg) n.277A>G c.559+13A>G (n.559+13A>G) c.428A>G (p.Gln143Arg) c.653A>G (p.Gln218Arg) c.409-960A>G (n.409-960A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173911851T>G | CA343776320 | SERPINC1 | c.572A>C (p.Gln191Pro) n.277A>C c.559+13A>C (n.559+13A>C) c.428A>C (p.Gln143Pro) c.653A>C (p.Gln218Pro) c.409-960A>C (n.409-960A>C) | |
| 1 | g.173911851T= | CA1207937807 | SERPINC1 | c.572A= (p.Gln191=) n.277A= c.559+13A= (n.559+13A=) c.428A= (p.Gln143=) c.653A= (p.Gln218=) c.409-960A= (n.409-960A=) | |
| 1 | g.173911852G>A | CA343776325 | SERPINC1 | c.571C>T (p.Gln191Ter) n.276C>T c.559+12C>T (n.559+12C>T) c.427C>T (p.Gln143Ter) c.652C>T (p.Gln218Ter) c.409-961C>T (n.409-961C>T) | gnomAD v4 |
| 1 | g.173911852G>C | CA343776326 | SERPINC1 | c.571C>G (p.Gln191Glu) n.276C>G c.559+12C>G (n.559+12C>G) c.427C>G (p.Gln143Glu) c.652C>G (p.Gln218Glu) c.409-961C>G (n.409-961C>G) | COSMIC |
| 1 | g.173911852G>T | CA343776328 | SERPINC1 | c.571C>A (p.Gln191Lys) n.276C>A c.559+12C>A (n.559+12C>A) c.427C>A (p.Gln143Lys) c.652C>A (p.Gln218Lys) c.409-961C>A (n.409-961C>A) | |
| 1 | g.173911853G>A | CA421822970 | SERPINC1 | c.570C>T (p.Tyr190=) n.275C>T c.559+11C>T (n.559+11C>T) c.426C>T (p.Tyr142=) c.651C>T (p.Tyr217=) c.409-962C>T (n.409-962C>T) | dbSNP |
| 1 | g.173911853G>C | CA343776330 | SERPINC1 | c.570C>G (p.Tyr190Ter) n.275C>G c.559+11C>G (n.559+11C>G) c.426C>G (p.Tyr142Ter) c.651C>G (p.Tyr217Ter) c.409-962C>G (n.409-962C>G) | |
| 1 | g.173911853G= | CA1207937808 | SERPINC1 | c.570C= (p.Tyr190=) n.275C= c.559+11C= (n.559+11C=) c.426C= (p.Tyr142=) c.651C= (p.Tyr217=) c.409-962C= (n.409-962C=) | |
| 1 | g.173911853G>T | CA343776332 | SERPINC1 | c.570C>A (p.Tyr190Ter) n.275C>A c.559+11C>A (n.559+11C>A) c.426C>A (p.Tyr142Ter) c.651C>A (p.Tyr217Ter) c.409-962C>A (n.409-962C>A) | |
| 1 | g.173911854del | CA2586964419 | SERPINC1 | c.569del (p.Tyr190SerfsTer?) n.274del c.559+10del (n.559+10del) c.425del (p.Tyr142SerfsTer?) c.650del (p.Tyr217SerfsTer?) c.409-963del (n.409-963del) | |
| 1 | g.173911854T>A | CA343776334 | SERPINC1 | c.569A>T (p.Tyr190Phe) n.274A>T c.559+10A>T (n.559+10A>T) c.425A>T (p.Tyr142Phe) c.650A>T (p.Tyr217Phe) c.409-963A>T (n.409-963A>T) | |
| 1 | g.173911854T>C | CA343776335 | SERPINC1 | c.569A>G (p.Tyr190Cys) n.274A>G c.559+10A>G (n.559+10A>G) c.425A>G (p.Tyr142Cys) c.650A>G (p.Tyr217Cys) c.409-963A>G (n.409-963A>G) | gnomAD v4 |
| 1 | g.173911854T>G | CA343776337 | SERPINC1 | c.569A>C (p.Tyr190Ser) n.274A>C c.559+10A>C (n.559+10A>C) c.425A>C (p.Tyr142Ser) c.650A>C (p.Tyr217Ser) c.409-963A>C (n.409-963A>C) |