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.173911836A>C | CA343776248 | SERPINC1 | c.587T>G (p.Leu196Trp) n.292T>G c.559+28T>G (n.559+28T>G) c.443T>G (p.Leu148Trp) c.668T>G (p.Leu223Trp) c.409-945T>G (n.409-945T>G) | |
1 | g.173911836A>G | CA343776249 | SERPINC1 | c.587T>C (p.Leu196Ser) n.292T>C c.559+28T>C (n.559+28T>C) c.443T>C (p.Leu148Ser) c.668T>C (p.Leu223Ser) c.409-945T>C (n.409-945T>C) | |
1 | g.173911836A>T | CA343776250 | SERPINC1 | c.587T>A (p.Leu196Ter) n.292T>A c.559+28T>A (n.559+28T>A) c.443T>A (p.Leu148Ter) c.668T>A (p.Leu223Ter) c.409-945T>A (n.409-945T>A) | |
1 | g.173911837A= | CA1207937802 | SERPINC1 | c.586T= (p.Leu196=) n.291T= c.559+27T= (n.559+27T=) c.442T= (p.Leu148=) c.667T= (p.Leu223=) c.409-946T= (n.409-946T=) | |
1 | g.173911837A>C | CA343776252 | SERPINC1 | c.586T>G (p.Leu196Val) n.291T>G c.559+27T>G (n.559+27T>G) c.442T>G (p.Leu148Val) c.667T>G (p.Leu223Val) c.409-946T>G (n.409-946T>G) | dbSNP |
1 | g.173911837A>G | CA1251399 | SERPINC1 | c.586T>C (p.Leu196=) n.291T>C c.559+27T>C (n.559+27T>C) c.442T>C (p.Leu148=) c.667T>C (p.Leu223=) c.409-946T>C (n.409-946T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173911837A>T | CA343776254 | SERPINC1 | c.586T>A (p.Leu196Met) n.291T>A c.559+27T>A (n.559+27T>A) c.442T>A (p.Leu148Met) c.667T>A (p.Leu223Met) c.409-946T>A (n.409-946T>A) | |
1 | g.173911838C>A | CA343776255 | SERPINC1 | c.585G>T (p.Glu195Asp) n.290G>T c.559+26G>T (n.559+26G>T) c.441G>T (p.Glu147Asp) c.666G>T (p.Glu222Asp) c.409-947G>T (n.409-947G>T) | |
1 | g.173911838C= | CA1207937803 | SERPINC1 | c.585G= (p.Glu195=) n.290G= c.559+26G= (n.559+26G=) c.441G= (p.Glu147=) c.666G= (p.Glu222=) c.409-947G= (n.409-947G=) | |
1 | g.173911838C>G | CA343776257 | SERPINC1 | c.585G>C (p.Glu195Asp) n.290G>C c.559+26G>C (n.559+26G>C) c.441G>C (p.Glu147Asp) c.666G>C (p.Glu222Asp) c.409-947G>C (n.409-947G>C) | |
1 | g.173911838C>T | CA421822965 | SERPINC1 | c.585G>A (p.Glu195=) n.290G>A c.559+26G>A (n.559+26G>A) c.441G>A (p.Glu147=) c.666G>A (p.Glu222=) c.409-947G>A (n.409-947G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173911839T>A | CA343776262 | SERPINC1 | c.584A>T (p.Glu195Val) n.289A>T c.559+25A>T (n.559+25A>T) c.440A>T (p.Glu147Val) c.665A>T (p.Glu222Val) c.409-948A>T (n.409-948A>T) | |
1 | g.173911839T>C | CA343776259 | SERPINC1 | c.584A>G (p.Glu195Gly) n.289A>G c.559+25A>G (n.559+25A>G) c.440A>G (p.Glu147Gly) c.665A>G (p.Glu222Gly) c.409-948A>G (n.409-948A>G) | |
1 | g.173911839T>G | CA343776261 | SERPINC1 | c.584A>C (p.Glu195Ala) n.289A>C c.559+25A>C (n.559+25A>C) c.440A>C (p.Glu147Ala) c.665A>C (p.Glu222Ala) c.409-948A>C (n.409-948A>C) | |
1 | g.173911840C>A | CA343776263 | SERPINC1 | c.583G>T (p.Glu195Ter) n.288G>T c.559+24G>T (n.559+24G>T) c.439G>T (p.Glu147Ter) c.664G>T (p.Glu222Ter) c.409-949G>T (n.409-949G>T) | |
1 | g.173911840C>G | CA343776265 | SERPINC1 | c.583G>C (p.Glu195Gln) n.288G>C c.559+24G>C (n.559+24G>C) c.439G>C (p.Glu147Gln) c.664G>C (p.Glu222Gln) c.409-949G>C (n.409-949G>C) | |
1 | g.173911840C>T | CA343776268 | SERPINC1 | c.583G>A (p.Glu195Lys) n.288G>A c.559+24G>A (n.559+24G>A) c.439G>A (p.Glu147Lys) c.664G>A (p.Glu222Lys) c.409-949G>A (n.409-949G>A) | |
1 | g.173911841A>C | CA343776270 | SERPINC1 | c.582T>G (p.Ser194Arg) n.287T>G c.559+23T>G (n.559+23T>G) c.438T>G (p.Ser146Arg) c.663T>G (p.Ser221Arg) c.409-950T>G (n.409-950T>G) | gnomAD v4 |
1 | g.173911841A>G | CA421822966 | SERPINC1 | c.582T>C (p.Ser194=) n.287T>C c.559+23T>C (n.559+23T>C) c.438T>C (p.Ser146=) c.663T>C (p.Ser221=) c.409-950T>C (n.409-950T>C) | |
1 | g.173911841A>T | CA343776271 | SERPINC1 | c.582T>A (p.Ser194Arg) n.287T>A c.559+23T>A (n.559+23T>A) c.438T>A (p.Ser146Arg) c.663T>A (p.Ser221Arg) c.409-950T>A (n.409-950T>A) | |
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) | |
1 | g.173911855A= | CA1149041389 | SERPINC1 | c.568T= (p.Tyr190=) n.273T= c.559+9T= (n.559+9T=) c.424T= (p.Tyr142=) c.649T= (p.Tyr217=) c.409-964T= (n.409-964T=) | |
1 | g.173911855A>C | CA343776338 | SERPINC1 | c.568T>G (p.Tyr190Asp) n.273T>G c.559+9T>G (n.559+9T>G) c.424T>G (p.Tyr142Asp) c.649T>G (p.Tyr217Asp) c.409-964T>G (n.409-964T>G) | |
1 | g.173911855A>G | CA1251400 | SERPINC1 | c.568T>C (p.Tyr190His) n.273T>C c.559+9T>C (n.559+9T>C) c.424T>C (p.Tyr142His) c.649T>C (p.Tyr217His) c.409-964T>C (n.409-964T>C) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.173911855A>T | CA343776341 | SERPINC1 | c.568T>A (p.Tyr190Asn) n.273T>A c.559+9T>A (n.559+9T>A) c.424T>A (p.Tyr142Asn) c.649T>A (p.Tyr217Asn) c.409-964T>A (n.409-964T>A) | |
1 | g.173911856G>A | CA421822971 | SERPINC1 | c.567C>T (p.Thr189=) n.272C>T c.559+8C>T (n.559+8C>T) c.423C>T (p.Thr141=) c.648C>T (p.Thr216=) c.409-965C>T (n.409-965C>T) | gnomAD v4 COSMIC |
1 | g.173911856G>C | CA421822972 | SERPINC1 | c.567C>G (p.Thr189=) n.272C>G c.559+8C>G (n.559+8C>G) c.423C>G (p.Thr141=) c.648C>G (p.Thr216=) c.409-965C>G (n.409-965C>G) | |
1 | g.173911856G>T | CA421822973 | SERPINC1 | c.567C>A (p.Thr189=) n.272C>A c.559+8C>A (n.559+8C>A) c.423C>A (p.Thr141=) c.648C>A (p.Thr216=) c.409-965C>A (n.409-965C>A) | |
1 | g.173911857G>A | CA343776346 | SERPINC1 | c.566C>T (p.Thr189Ile) n.271C>T c.559+7C>T (n.559+7C>T) c.422C>T (p.Thr141Ile) c.647C>T (p.Thr216Ile) c.409-966C>T (n.409-966C>T) | dbSNP |
1 | g.173911857G>C | CA343776344 | SERPINC1 | c.566C>G (p.Thr189Ser) n.271C>G c.559+7C>G (n.559+7C>G) c.422C>G (p.Thr141Ser) c.647C>G (p.Thr216Ser) c.409-966C>G (n.409-966C>G) | dbSNP |
1 | g.173911857G= | CA1207937809 | SERPINC1 | c.566C= (p.Thr189=) n.271C= c.559+7C= (n.559+7C=) c.422C= (p.Thr141=) c.647C= (p.Thr216=) c.409-966C= (n.409-966C=) | |
1 | g.173911857G>T | CA343776343 | SERPINC1 | c.566C>A (p.Thr189Asn) n.271C>A c.559+7C>A (n.559+7C>A) c.422C>A (p.Thr141Asn) c.647C>A (p.Thr216Asn) c.409-966C>A (n.409-966C>A) | gnomAD v4 |
1 | g.173911858T>A | CA343776348 | SERPINC1 | c.565A>T (p.Thr189Ser) n.270A>T c.559+6A>T (n.559+6A>T) c.421A>T (p.Thr141Ser) c.646A>T (p.Thr216Ser) c.409-967A>T (n.409-967A>T) | |
1 | g.173911858T>C | CA343776350 | SERPINC1 | c.565A>G (p.Thr189Ala) n.270A>G c.559+6A>G (n.559+6A>G) c.421A>G (p.Thr141Ala) c.646A>G (p.Thr216Ala) c.409-967A>G (n.409-967A>G) | gnomAD v4 |
1 | g.173911858T>G | CA343776352 | SERPINC1 | c.565A>C (p.Thr189Pro) n.270A>C c.559+6A>C (n.559+6A>C) c.421A>C (p.Thr141Pro) c.646A>C (p.Thr216Pro) c.409-967A>C (n.409-967A>C) | |
1 | g.173911859C>A | CA343776354 | SERPINC1 | c.564G>T (p.Glu188Asp) n.269G>T c.559+5G>T (n.559+5G>T) c.420G>T (p.Glu140Asp) c.645G>T (p.Glu215Asp) c.409-968G>T (n.409-968G>T) | |
1 | g.173911859C= | CA1207937810 | SERPINC1 | c.564G= (p.Glu188=) n.269G= c.559+5G= (n.559+5G=) c.420G= (p.Glu140=) c.645G= (p.Glu215=) c.409-968G= (n.409-968G=) | |
1 | g.173911859C>G | CA343776355 | SERPINC1 | c.564G>C (p.Glu188Asp) n.269G>C c.559+5G>C (n.559+5G>C) c.420G>C (p.Glu140Asp) c.645G>C (p.Glu215Asp) c.409-968G>C (n.409-968G>C) | dbSNP gnomAD v4 |
1 | g.173911859C>T | CA421822974 | SERPINC1 | c.564G>A (p.Glu188=) n.269G>A c.559+5G>A (n.559+5G>A) c.420G>A (p.Glu140=) c.645G>A (p.Glu215=) c.409-968G>A (n.409-968G>A) | |
1 | g.173911860T>A | CA343776361 | SERPINC1 | c.563A>T (p.Glu188Val) n.268A>T c.559+4A>T (n.559+4A>T) c.419A>T (p.Glu140Val) c.644A>T (p.Glu215Val) c.409-969A>T (n.409-969A>T) | |
1 | g.173911860T>C | CA343776359 | SERPINC1 | c.563A>G (p.Glu188Gly) n.268A>G c.559+4A>G (n.559+4A>G) c.419A>G (p.Glu140Gly) c.644A>G (p.Glu215Gly) c.409-969A>G (n.409-969A>G) | |
1 | g.173911860T>G | CA343776357 | SERPINC1 | c.563A>C (p.Glu188Ala) n.268A>C c.559+4A>C (n.559+4A>C) c.419A>C (p.Glu140Ala) c.644A>C (p.Glu215Ala) c.409-969A>C (n.409-969A>C) | |
1 | g.173911861C>A | CA343776363 | SERPINC1 | c.562G>T (p.Glu188Ter) n.267G>T c.559+3G>T (n.559+3G>T) c.418G>T (p.Glu140Ter) c.643G>T (p.Glu215Ter) c.409-970G>T (n.409-970G>T) | |
1 | g.173911861C>G | CA343776364 | SERPINC1 | c.562G>C (p.Glu188Gln) n.267G>C c.559+3G>C (n.559+3G>C) c.418G>C (p.Glu140Gln) c.643G>C (p.Glu215Gln) c.409-970G>C (n.409-970G>C) | |
1 | g.173911861C>T | CA343776366 | SERPINC1 | c.562G>A (p.Glu188Lys) n.267G>A c.559+3G>A (n.559+3G>A) c.418G>A (p.Glu140Lys) c.643G>A (p.Glu215Lys) c.409-970G>A (n.409-970G>A) | |
1 | g.173911862A= | CA1207937811 | SERPINC1 | c.561T= (p.Asn187=) n.266T= c.559+2T= (n.559+2T=) c.417T= (p.Asn139=) c.642T= (p.Asn214=) c.409-971T= (n.409-971T=) | |
1 | g.173911862A>C | CA343776368 | SERPINC1 | c.561T>G (p.Asn187Lys) n.266T>G c.559+2T>G (n.559+2T>G) c.417T>G (p.Asn139Lys) c.642T>G (p.Asn214Lys) c.409-971T>G (n.409-971T>G) | gnomAD v4 |
1 | g.173911862A>G | CA343776370 | SERPINC1 | c.561T>C (p.Asn187=) n.266T>C c.559+2T>C (n.559+2T>C) c.417T>C (p.Asn139=) c.642T>C (p.Asn214=) c.409-971T>C (n.409-971T>C) | dbSNP |
1 | g.173911862A>T | CA343776372 | SERPINC1 | c.561T>A (p.Asn187Lys) n.266T>A c.559+2T>A (n.559+2T>A) c.417T>A (p.Asn139Lys) c.642T>A (p.Asn214Lys) c.409-971T>A (n.409-971T>A) | |
1 | g.173911863T>A | CA343776374 | SERPINC1 | c.560A>T (p.Asn187Ile) n.265A>T c.559+1A>T (n.559+1A>T) c.416A>T (p.Asn139Ile) c.641A>T (p.Asn214Ile) c.409-972A>T (n.409-972A>T) | |
1 | g.173911863T>C | CA343776378 | SERPINC1 | c.560A>G (p.Asn187Ser) n.265A>G c.559+1A>G (n.559+1A>G) c.416A>G (p.Asn139Ser) c.641A>G (p.Asn214Ser) c.409-972A>G (n.409-972A>G) | dbSNP gnomAD v4 |
1 | g.173911863T>G | CA343776376 | SERPINC1 | c.560A>C (p.Asn187Thr) n.265A>C c.559+1A>C (n.559+1A>C) c.416A>C (p.Asn139Thr) c.641A>C (p.Asn214Thr) c.409-972A>C (n.409-972A>C) | |
1 | g.173911863T= | CA1207937812 | SERPINC1 | c.560A= (p.Asn187=) n.265A= c.559+1A= (n.559+1A=) c.416A= (p.Asn139=) c.641A= (p.Asn214=) c.409-972A= (n.409-972A=) | |
1 | g.173911864T>A | CA343776379 | SERPINC1 | c.559A>T (p.Asn187Tyr) n.264A>T c.415A>T (p.Asn139Tyr) c.640A>T (p.Asn214Tyr) c.409-973A>T (n.409-973A>T) | |
1 | g.173911864T>C | CA343776380 | SERPINC1 | c.559A>G (p.Asn187Asp) n.264A>G c.415A>G (p.Asn139Asp) c.640A>G (p.Asn214Asp) c.409-973A>G (n.409-973A>G) | |
1 | g.173911864T>G | CA343776382 | SERPINC1 | c.559A>C (p.Asn187His) n.264A>C c.415A>C (p.Asn139His) c.640A>C (p.Asn214His) c.409-973A>C (n.409-973A>C) | |
1 | g.173911865G>A | CA421822977 | SERPINC1 | c.558C>T (p.Phe186=) n.263C>T c.414C>T (p.Phe138=) c.639C>T (p.Phe213=) c.409-974C>T (n.409-974C>T) | |
1 | g.173911865G>C | CA343776384 | SERPINC1 | c.558C>G (p.Phe186Leu) n.263C>G c.414C>G (p.Phe138Leu) c.639C>G (p.Phe213Leu) c.409-974C>G (n.409-974C>G) | |
1 | g.173911865G>T | CA343776386 | SERPINC1 | c.558C>A (p.Phe186Leu) n.263C>A c.414C>A (p.Phe138Leu) c.639C>A (p.Phe213Leu) c.409-974C>A (n.409-974C>A) | |
1 | g.173911866A>C | CA343776387 | SERPINC1 | c.557T>G (p.Phe186Cys) n.262T>G c.413T>G (p.Phe138Cys) c.638T>G (p.Phe213Cys) c.409-975T>G (n.409-975T>G) | |
1 | g.173911866A>G | CA343776389 | SERPINC1 | c.557T>C (p.Phe186Ser) n.262T>C c.413T>C (p.Phe138Ser) c.638T>C (p.Phe213Ser) c.409-975T>C (n.409-975T>C) | |
1 | g.173911866A>T | CA343776391 | SERPINC1 | c.557T>A (p.Phe186Tyr) n.262T>A c.413T>A (p.Phe138Tyr) c.638T>A (p.Phe213Tyr) c.409-975T>A (n.409-975T>A) | |
1 | g.173911867A>C | CA343776392 | SERPINC1 | c.556T>G (p.Phe186Val) n.261T>G c.412T>G (p.Phe138Val) c.637T>G (p.Phe213Val) c.409-976T>G (n.409-976T>G) | |
1 | g.173911867A>G | CA343776393 | SERPINC1 | c.556T>C (p.Phe186Leu) n.261T>C c.412T>C (p.Phe138Leu) c.637T>C (p.Phe213Leu) c.409-976T>C (n.409-976T>C) | |
1 | g.173911867A>T | CA343776395 | SERPINC1 | c.556T>A (p.Phe186Ile) n.261T>A c.412T>A (p.Phe138Ile) c.637T>A (p.Phe213Ile) c.409-976T>A (n.409-976T>A) | |
1 | g.173911868G>A | CA421822982 | SERPINC1 | c.555C>T (p.Thr185=) n.260C>T c.411C>T (p.Thr137=) c.636C>T (p.Thr212=) c.409-977C>T (n.409-977C>T) | |
1 | g.173911868G>C | CA421822983 | SERPINC1 | c.555C>G (p.Thr185=) n.260C>G c.411C>G (p.Thr137=) c.636C>G (p.Thr212=) c.409-977C>G (n.409-977C>G) | |
1 | g.173911868G>T | CA421822984 | SERPINC1 | c.555C>A (p.Thr185=) n.260C>A c.411C>A (p.Thr137=) c.636C>A (p.Thr212=) c.409-977C>A (n.409-977C>A) | gnomAD v4 |
1 | g.173911869G>A | CA343776400 | SERPINC1 | c.554C>T (p.Thr185Ile) n.259C>T c.410C>T (p.Thr137Ile) c.635C>T (p.Thr212Ile) c.409-978C>T (n.409-978C>T) | |
1 | g.173911869G>C | CA343776398 | SERPINC1 | c.554C>G (p.Thr185Ser) n.259C>G c.410C>G (p.Thr137Ser) c.635C>G (p.Thr212Ser) c.409-978C>G (n.409-978C>G) | |
1 | g.173911869G>T | CA343776397 | SERPINC1 | c.554C>A (p.Thr185Asn) n.259C>A c.410C>A (p.Thr137Asn) c.635C>A (p.Thr212Asn) c.409-978C>A (n.409-978C>A) | |
1 | g.173911870T>A | CA343776403 | SERPINC1 | c.553A>T (p.Thr185Ser) n.258A>T c.409A>T (p.Thr137Ser) c.634A>T (p.Thr212Ser) c.409-979A>T (n.409-979A>T) | gnomAD v4 |
1 | g.173911870T>C | CA1251401 | SERPINC1 | c.553A>G (p.Thr185Ala) n.258A>G c.409A>G (p.Thr137Ala) c.634A>G (p.Thr212Ala) c.409-979A>G (n.409-979A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173911870T>G | CA343776404 | SERPINC1 | c.553A>C (p.Thr185Pro) n.258A>C c.409A>C (p.Thr137Pro) c.634A>C (p.Thr212Pro) c.409-979A>C (n.409-979A>C) | |
1 | g.173911870T= | CA1147839071 | SERPINC1 | c.553A= (p.Thr185=) n.258A= c.409A= (p.Thr137=) c.634A= (p.Thr212=) c.409-979A= (n.409-979A=) | |
1 | g.173911871A= | CA1207937813 | SERPINC1 | c.552T= (p.Leu184=) n.257T= c.408T= (p.Leu136=) c.633T= (p.Leu211=) c.409-980T= (n.409-980T=) | |
1 | g.173911871A>C | CA421822989 | SERPINC1 | c.552T>G (p.Leu184=) n.257T>G c.408T>G (p.Leu136=) c.633T>G (p.Leu211=) c.409-980T>G (n.409-980T>G) | |
1 | g.173911871A>G | CA421822990 | SERPINC1 | c.552T>C (p.Leu184=) n.257T>C c.408T>C (p.Leu136=) c.633T>C (p.Leu211=) c.409-980T>C (n.409-980T>C) | dbSNP gnomAD v4 |
1 | g.173911871A>T | CA421822991 | SERPINC1 | c.552T>A (p.Leu184=) n.257T>A c.408T>A (p.Leu136=) c.633T>A (p.Leu211=) c.409-980T>A (n.409-980T>A) | |
1 | g.173911872A= | CA1207937815 | SERPINC1 | c.551T= (p.Leu184=) n.256T= c.407T= (p.Leu136=) c.632T= (p.Leu211=) c.409-981T= (n.409-981T=) | |
1 | g.173911872A>C | CA343776406 | SERPINC1 | c.551T>G (p.Leu184Arg) n.256T>G c.407T>G (p.Leu136Arg) c.632T>G (p.Leu211Arg) c.409-981T>G (n.409-981T>G) | dbSNP |
1 | g.173911872A>G | CA343776408 | SERPINC1 | c.551T>C (p.Leu184Pro) n.256T>C c.407T>C (p.Leu136Pro) c.632T>C (p.Leu211Pro) c.409-981T>C (n.409-981T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.173911872A>T | CA343776407 | SERPINC1 | c.551T>A (p.Leu184His) n.256T>A c.407T>A (p.Leu136His) c.632T>A (p.Leu211His) c.409-981T>A (n.409-981T>A) | |
1 | g.173911872_173911873delinsAG | CA1207937814 | SERPINC1 | c.550_551delinsCT (p.Leu184=) n.255_256delinsCT c.406_407delinsCT (p.Leu136=) c.631_632delinsCT (p.Leu211=) c.409-982_409-981delinsCT (n.409-982_409-981delinsCT) | |
1 | g.173911873G>A | CA343776410 | SERPINC1 | c.550C>T (p.Leu184Phe) n.255C>T c.406C>T (p.Leu136Phe) c.631C>T (p.Leu211Phe) c.409-982C>T (n.409-982C>T) | |
1 | g.173911873G>C | CA343776411 | SERPINC1 | c.550C>G (p.Leu184Val) n.255C>G c.406C>G (p.Leu136Val) c.631C>G (p.Leu211Val) c.409-982C>G (n.409-982C>G) | |
1 | g.173911873G>T | CA343776413 | SERPINC1 | c.550C>A (p.Leu184Ile) n.255C>A c.406C>A (p.Leu136Ile) c.631C>A (p.Leu211Ile) c.409-982C>A (n.409-982C>A) | |
1 | g.173911873_173911875del | CA2695195504 | SERPINC1 | c.548_550del (p.Ser183_Leu184delinsPhe) n.253_255del c.404_406del (p.Ser135_Leu136delinsPhe) c.629_631del (p.Ser210_Leu211delinsPhe) c.409-984_409-982del (n.409-984_409-982del) | |
1 | g.173911875del | CA915943673 | SERPINC1 | c.550del (p.Thr185ProfsTer?) n.255del c.550del (p.Thr185ProfsTer18) c.406del (p.Thr137ProfsTer?) c.631del (p.Thr212ProfsTer?) c.409-982del (n.409-982del) | ClinVar dbSNP |
1 | g.173911874G>A | CA421822994 | SERPINC1 | c.549C>T (p.Ser183=) n.254C>T c.405C>T (p.Ser135=) c.630C>T (p.Ser210=) c.409-983C>T (n.409-983C>T) | gnomAD v4 |
1 | g.173911874G>C | CA421822995 | SERPINC1 | c.549C>G (p.Ser183=) n.254C>G c.405C>G (p.Ser135=) c.630C>G (p.Ser210=) c.409-983C>G (n.409-983C>G) | |
1 | g.173911874G>T | CA421822997 | SERPINC1 | c.549C>A (p.Ser183=) n.254C>A c.405C>A (p.Ser135=) c.630C>A (p.Ser210=) c.409-983C>A (n.409-983C>A) | |
1 | g.173911875G>A | CA343776415 | SERPINC1 | c.548C>T (p.Ser183Phe) n.253C>T c.404C>T (p.Ser135Phe) c.629C>T (p.Ser210Phe) c.409-984C>T (n.409-984C>T) | |
1 | g.173911875G>C | CA343776417 | SERPINC1 | c.548C>G (p.Ser183Cys) n.253C>G c.404C>G (p.Ser135Cys) c.629C>G (p.Ser210Cys) c.409-984C>G (n.409-984C>G) | |
1 | g.173911875G>T | CA343776418 | SERPINC1 | c.548C>A (p.Ser183Tyr) n.253C>A c.404C>A (p.Ser135Tyr) c.629C>A (p.Ser210Tyr) c.409-984C>A (n.409-984C>A) | |
1 | g.173911876A>C | CA343776420 | SERPINC1 | c.547T>G (p.Ser183Ala) n.252T>G c.403T>G (p.Ser135Ala) c.628T>G (p.Ser210Ala) c.409-985T>G (n.409-985T>G) | |
1 | g.173911876A>G | CA343776421 | SERPINC1 | c.547T>C (p.Ser183Pro) n.252T>C c.403T>C (p.Ser135Pro) c.628T>C (p.Ser210Pro) c.409-985T>C (n.409-985T>C) | ClinVar dbSNP |
1 | g.173911876A>T | CA343776423 | SERPINC1 | c.547T>A (p.Ser183Thr) n.252T>A c.403T>A (p.Ser135Thr) c.628T>A (p.Ser210Thr) c.409-985T>A (n.409-985T>A) | |
1 | g.173911877T>A | CA343776424 | SERPINC1 | c.546A>T (p.Lys182Asn) n.251A>T c.402A>T (p.Lys134Asn) c.627A>T (p.Lys209Asn) c.409-986A>T (n.409-986A>T) | |
1 | g.173911877T>C | CA421823003 | SERPINC1 | c.546A>G (p.Lys182=) n.251A>G c.402A>G (p.Lys134=) c.627A>G (p.Lys209=) c.409-986A>G (n.409-986A>G) | |
1 | g.173911877T>G | CA343776425 | SERPINC1 | c.546A>C (p.Lys182Asn) n.251A>C c.402A>C (p.Lys134Asn) c.627A>C (p.Lys209Asn) c.409-986A>C (n.409-986A>C) | |
1 | g.173911879del | CA2739292068 | SERPINC1 | c.546del (p.Lys182AsnfsTer?) n.251del c.546del (p.Lys182AsnfsTer21) c.402del (p.Lys134AsnfsTer?) c.627del (p.Lys209AsnfsTer?) c.409-986del (n.409-986del) | |
1 | g.173911878T>A | CA343776431 | SERPINC1 | c.545A>T (p.Lys182Ile) n.250A>T c.401A>T (p.Lys134Ile) c.626A>T (p.Lys209Ile) c.409-987A>T (n.409-987A>T) | |
1 | g.173911878T>C | CA343776427 | SERPINC1 | c.545A>G (p.Lys182Arg) n.250A>G c.401A>G (p.Lys134Arg) c.626A>G (p.Lys209Arg) c.409-987A>G (n.409-987A>G) | |
1 | g.173911878T>G | CA343776429 | SERPINC1 | c.545A>C (p.Lys182Thr) n.250A>C c.401A>C (p.Lys134Thr) c.626A>C (p.Lys209Thr) c.409-987A>C (n.409-987A>C) | |
1 | g.173911879T>A | CA343776432 | SERPINC1 | c.544A>T (p.Lys182Ter) n.249A>T c.400A>T (p.Lys134Ter) c.625A>T (p.Lys209Ter) c.409-988A>T (n.409-988A>T) | |
1 | g.173911879T>C | CA343776434 | SERPINC1 | c.544A>G (p.Lys182Glu) n.249A>G c.400A>G (p.Lys134Glu) c.625A>G (p.Lys209Glu) c.409-988A>G (n.409-988A>G) | |
1 | g.173911879T>G | CA343776436 | SERPINC1 | c.544A>C (p.Lys182Gln) n.249A>C c.400A>C (p.Lys134Gln) c.625A>C (p.Lys209Gln) c.409-988A>C (n.409-988A>C) | |
1 | g.173911880G>A | CA421823005 | SERPINC1 | c.543C>T (p.Asp181=) n.248C>T c.399C>T (p.Asp133=) c.624C>T (p.Asp208=) c.409-989C>T (n.409-989C>T) | |
1 | g.173911880G>C | CA343776438 | SERPINC1 | c.543C>G (p.Asp181Glu) n.248C>G c.399C>G (p.Asp133Glu) c.624C>G (p.Asp208Glu) c.409-989C>G (n.409-989C>G) | |
1 | g.173911880G= | CA1207937816 | SERPINC1 | c.543C= (p.Asp181=) n.248C= c.399C= (p.Asp133=) c.624C= (p.Asp208=) c.409-989C= (n.409-989C=) | |
1 | g.173911880G>T | CA343776439 | SERPINC1 | c.543C>A (p.Asp181Glu) n.248C>A c.399C>A (p.Asp133Glu) c.624C>A (p.Asp208Glu) c.409-989C>A (n.409-989C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173911881T>A | CA343776442 | SERPINC1 | c.542A>T (p.Asp181Val) n.247A>T c.398A>T (p.Asp133Val) c.623A>T (p.Asp208Val) c.409-990A>T (n.409-990A>T) | |
1 | g.173911881T>C | CA343776443 | SERPINC1 | c.542A>G (p.Asp181Gly) n.247A>G c.398A>G (p.Asp133Gly) c.623A>G (p.Asp208Gly) c.409-990A>G (n.409-990A>G) | |
1 | g.173911881T>G | CA343776445 | SERPINC1 | c.542A>C (p.Asp181Ala) n.247A>C c.398A>C (p.Asp133Ala) c.623A>C (p.Asp208Ala) c.409-990A>C (n.409-990A>C) | |
1 | g.173911882C>A | CA343776447 | SERPINC1 | c.541G>T (p.Asp181Tyr) n.246G>T c.397G>T (p.Asp133Tyr) c.622G>T (p.Asp208Tyr) c.409-991G>T (n.409-991G>T) | |
1 | g.173911882C= | CA1207937817 | SERPINC1 | c.541G= (p.Asp181=) n.246G= c.397G= (p.Asp133=) c.622G= (p.Asp208=) c.409-991G= (n.409-991G=) | |
1 | g.173911882C>G | CA343776449 | SERPINC1 | c.541G>C (p.Asp181His) n.246G>C c.397G>C (p.Asp133His) c.622G>C (p.Asp208His) c.409-991G>C (n.409-991G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173911882C>T | CA343776450 | SERPINC1 | c.541G>A (p.Asp181Asn) n.246G>A c.397G>A (p.Asp133Asn) c.622G>A (p.Asp208Asn) c.409-991G>A (n.409-991G>A) | |
1 | g.173911883T>A | CA421823012 | SERPINC1 | c.540A>T (p.Gly180=) n.245A>T c.396A>T (p.Gly132=) c.621A>T (p.Gly207=) c.409-992A>T (n.409-992A>T) | |
1 | g.173911883T>C | CA421823014 | SERPINC1 | c.540A>G (p.Gly180=) n.245A>G c.396A>G (p.Gly132=) c.621A>G (p.Gly207=) c.409-992A>G (n.409-992A>G) | |
1 | g.173911883T>G | CA421823013 | SERPINC1 | c.540A>C (p.Gly180=) n.245A>C c.396A>C (p.Gly132=) c.621A>C (p.Gly207=) c.409-992A>C (n.409-992A>C) | |
1 | g.173911884C>A | CA343776454 | SERPINC1 | c.539G>T (p.Gly180Val) n.244G>T c.395G>T (p.Gly132Val) c.620G>T (p.Gly207Val) c.409-993G>T (n.409-993G>T) | |
1 | g.173911884C>G | CA343776456 | SERPINC1 | c.539G>C (p.Gly180Ala) n.244G>C c.395G>C (p.Gly132Ala) c.620G>C (p.Gly207Ala) c.409-993G>C (n.409-993G>C) | |
1 | g.173911884C>T | CA343776452 | SERPINC1 | c.539G>A (p.Gly180Glu) n.244G>A c.395G>A (p.Gly132Glu) c.620G>A (p.Gly207Glu) c.409-993G>A (n.409-993G>A) | COSMIC |
1 | g.173911885C>A | CA343776458 | SERPINC1 | c.538G>T (p.Gly180Ter) n.243G>T c.394G>T (p.Gly132Ter) c.619G>T (p.Gly207Ter) c.409-994G>T (n.409-994G>T) | |
1 | g.173911885C>G | CA343776459 | SERPINC1 | c.538G>C (p.Gly180Arg) n.243G>C c.394G>C (p.Gly132Arg) c.619G>C (p.Gly207Arg) c.409-994G>C (n.409-994G>C) | |
1 | g.173911885C>T | CA343776461 | SERPINC1 | c.538G>A (p.Gly180Arg) n.243G>A c.394G>A (p.Gly132Arg) c.619G>A (p.Gly207Arg) c.409-994G>A (n.409-994G>A) | |
1 | g.173911886A>C | CA343776462 | SERPINC1 | c.537T>G (p.Phe179Leu) n.242T>G c.393T>G (p.Phe131Leu) c.618T>G (p.Phe206Leu) c.409-995T>G (n.409-995T>G) | |
1 | g.173911886A>G | CA421823016 | SERPINC1 | c.537T>C (p.Phe179=) n.242T>C c.393T>C (p.Phe131=) c.618T>C (p.Phe206=) c.409-995T>C (n.409-995T>C) | |
1 | g.173911886A>T | CA343776464 | SERPINC1 | c.537T>A (p.Phe179Leu) n.242T>A c.393T>A (p.Phe131Leu) c.618T>A (p.Phe206Leu) c.409-995T>A (n.409-995T>A) | |
1 | g.173911887A= | CA1144233211 | SERPINC1 | c.536T= (p.Phe179=) n.241T= c.392T= (p.Phe131=) c.617T= (p.Phe206=) c.409-996T= (n.409-996T=) | |
1 | g.173911887A>C | CA343776468 | SERPINC1 | c.536T>G (p.Phe179Cys) n.241T>G c.392T>G (p.Phe131Cys) c.617T>G (p.Phe206Cys) c.409-996T>G (n.409-996T>G) | dbSNP |
1 | g.173911887A>G | CA343776467 | SERPINC1 | c.536T>C (p.Phe179Ser) n.241T>C c.392T>C (p.Phe131Ser) c.617T>C (p.Phe206Ser) c.409-996T>C (n.409-996T>C) | ClinVar dbSNP |
1 | g.173911887A>T | CA150690 | SERPINC1 | c.536T>A (p.Phe179Tyr) n.241T>A c.392T>A (p.Phe131Tyr) c.617T>A (p.Phe206Tyr) c.409-996T>A (n.409-996T>A) | ClinVar dbSNP |
1 | g.173911888A= | CA1207937818 | SERPINC1 | c.535T= (p.Phe179=) n.240T= c.391T= (p.Phe131=) c.616T= (p.Phe206=) c.409-997T= (n.409-997T=) | |
1 | g.173911888A>C | CA1251402 | SERPINC1 | c.535T>G (p.Phe179Val) n.240T>G c.391T>G (p.Phe131Val) c.616T>G (p.Phe206Val) c.409-997T>G (n.409-997T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173911888A>G | CA343776471 | SERPINC1 | c.535T>C (p.Phe179Leu) n.240T>C c.391T>C (p.Phe131Leu) c.616T>C (p.Phe206Leu) c.409-997T>C (n.409-997T>C) | |
1 | g.173911888A>T | CA343776473 | SERPINC1 | c.535T>A (p.Phe179Ile) n.240T>A c.391T>A (p.Phe131Ile) c.616T>A (p.Phe206Ile) c.409-997T>A (n.409-997T>A) | gnomAD v4 |
1 | g.173911889A>C | CA421823021 | SERPINC1 | c.534T>G (p.Leu178=) n.239T>G c.390T>G (p.Leu130=) c.615T>G (p.Leu205=) c.409-998T>G (n.409-998T>G) | |
1 | g.173911889A>G | CA421823023 | SERPINC1 | c.534T>C (p.Leu178=) n.239T>C c.390T>C (p.Leu130=) c.615T>C (p.Leu205=) c.409-998T>C (n.409-998T>C) | |
1 | g.173911889A>T | CA421823024 | SERPINC1 | c.534T>A (p.Leu178=) n.239T>A c.390T>A (p.Leu130=) c.615T>A (p.Leu205=) c.409-998T>A (n.409-998T>A) | |
1 | g.173911890A>C | CA343776475 | SERPINC1 | c.533T>G (p.Leu178Arg) n.238T>G c.389T>G (p.Leu130Arg) c.614T>G (p.Leu205Arg) c.409-999T>G (n.409-999T>G) | COSMIC |
1 | g.173911890A>G | CA343776476 | SERPINC1 | c.533T>C (p.Leu178Pro) n.238T>C c.389T>C (p.Leu130Pro) c.614T>C (p.Leu205Pro) c.409-999T>C (n.409-999T>C) | |
1 | g.173911890A>T | CA343776478 | SERPINC1 | c.533T>A (p.Leu178His) n.238T>A c.389T>A (p.Leu130His) c.614T>A (p.Leu205His) c.409-999T>A (n.409-999T>A) | |
1 | g.173911891G>A | CA343776479 | SERPINC1 | c.532C>T (p.Leu178Phe) n.237C>T c.388C>T (p.Leu130Phe) c.613C>T (p.Leu205Phe) c.409-1000C>T (n.409-1000C>T) | gnomAD v4 |
1 | g.173911891G>C | CA343776481 | SERPINC1 | c.532C>G (p.Leu178Val) n.237C>G c.388C>G (p.Leu130Val) c.613C>G (p.Leu205Val) c.409-1000C>G (n.409-1000C>G) | |
1 | g.173911891G>T | CA343776480 | SERPINC1 | c.532C>A (p.Leu178Ile) n.237C>A c.388C>A (p.Leu130Ile) c.613C>A (p.Leu205Ile) c.409-1000C>A (n.409-1000C>A) | |
1 | g.173911892G>A | CA421823028 | SERPINC1 | c.531C>T (p.Arg177=) n.236C>T c.387C>T (p.Arg129=) c.612C>T (p.Arg204=) c.409-1001C>T (n.409-1001C>T) | |
1 | g.173911892G>C | CA421823027 | SERPINC1 | c.531C>G (p.Arg177=) n.236C>G c.387C>G (p.Arg129=) c.612C>G (p.Arg204=) c.409-1001C>G (n.409-1001C>G) | |
1 | g.173911892G>T | CA421823026 | SERPINC1 | c.531C>A (p.Arg177=) n.236C>A c.387C>A (p.Arg129=) c.612C>A (p.Arg204=) c.409-1001C>A (n.409-1001C>A) | |
1 | g.173911893C>A | CA343776483 | SERPINC1 | c.530G>T (p.Arg177Leu) n.235G>T c.386G>T (p.Arg129Leu) c.611G>T (p.Arg204Leu) c.409-1002G>T (n.409-1002G>T) | dbSNP |
1 | g.173911893C= | CA1207937819 | SERPINC1 | c.530G= (p.Arg177=) n.235G= c.386G= (p.Arg129=) c.611G= (p.Arg204=) c.409-1002G= (n.409-1002G=) | |
1 | g.173911893C>G | CA343776484 | SERPINC1 | c.530G>C (p.Arg177Pro) n.235G>C c.386G>C (p.Arg129Pro) c.611G>C (p.Arg204Pro) c.409-1002G>C (n.409-1002G>C) | |
1 | g.173911893C>T | CA10581757 | SERPINC1 | c.530G>A (p.Arg177His) n.235G>A c.386G>A (p.Arg129His) c.611G>A (p.Arg204His) c.409-1002G>A (n.409-1002G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173911894G>A | CA1251403 | SERPINC1 | c.529C>T (p.Arg177Cys) n.234C>T c.385C>T (p.Arg129Cys) c.610C>T (p.Arg204Cys) c.409-1003C>T (n.409-1003C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173911894G>C | CA343776487 | SERPINC1 | c.529C>G (p.Arg177Gly) n.234C>G c.385C>G (p.Arg129Gly) c.610C>G (p.Arg204Gly) c.409-1003C>G (n.409-1003C>G) | |
1 | g.173911894G= | CA1141934734 | SERPINC1 | c.529C= (p.Arg177=) n.234C= c.385C= (p.Arg129=) c.610C= (p.Arg204=) c.409-1003C= (n.409-1003C=) | |
1 | g.173911894G>T | CA343776489 | SERPINC1 | c.529C>A (p.Arg177Ser) n.234C>A c.385C>A (p.Arg129Ser) c.610C>A (p.Arg204Ser) c.409-1003C>A (n.409-1003C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173911895A= | CA1207937820 | SERPINC1 | c.528T= (p.Asn176=) n.233T= c.384T= (p.Asn128=) c.609T= (p.Asn203=) c.409-1004T= (n.409-1004T=) | |
1 | g.173911895A>C | CA343776490 | SERPINC1 | c.528T>G (p.Asn176Lys) n.233T>G c.384T>G (p.Asn128Lys) c.609T>G (p.Asn203Lys) c.409-1004T>G (n.409-1004T>G) | |
1 | g.173911895A>G | CA421823032 | SERPINC1 | c.528T>C (p.Asn176=) n.233T>C c.384T>C (p.Asn128=) c.609T>C (p.Asn203=) c.409-1004T>C (n.409-1004T>C) | dbSNP |
1 | g.173911895A>T | CA343776492 | SERPINC1 | c.528T>A (p.Asn176Lys) n.233T>A c.384T>A (p.Asn128Lys) c.609T>A (p.Asn203Lys) c.409-1004T>A (n.409-1004T>A) | |
1 | g.173911896T>A | CA343776495 | SERPINC1 | c.527A>T (p.Asn176Ile) n.232A>T c.383A>T (p.Asn128Ile) c.608A>T (p.Asn203Ile) c.409-1005A>T (n.409-1005A>T) | |
1 | g.173911896T>C | CA343776496 | SERPINC1 | c.527A>G (p.Asn176Ser) n.232A>G c.383A>G (p.Asn128Ser) c.608A>G (p.Asn203Ser) c.409-1005A>G (n.409-1005A>G) | dbSNP |
1 | g.173911896T>G | CA343776497 | SERPINC1 | c.527A>C (p.Asn176Thr) n.232A>C c.383A>C (p.Asn128Thr) c.608A>C (p.Asn203Thr) c.409-1005A>C (n.409-1005A>C) | |
1 | g.173911896T= | CA1207937821 | SERPINC1 | c.527A= (p.Asn176=) n.232A= c.383A= (p.Asn128=) c.608A= (p.Asn203=) c.409-1005A= (n.409-1005A=) | |
1 | g.173911897T>A | CA343776502 | SERPINC1 | c.526A>T (p.Asn176Tyr) n.231A>T c.382A>T (p.Asn128Tyr) c.607A>T (p.Asn203Tyr) c.409-1006A>T (n.409-1006A>T) | |
1 | g.173911897T>C | CA343776501 | SERPINC1 | c.526A>G (p.Asn176Asp) n.231A>G c.382A>G (p.Asn128Asp) c.607A>G (p.Asn203Asp) c.409-1006A>G (n.409-1006A>G) | |
1 | g.173911897T>G | CA343776499 | SERPINC1 | c.526A>C (p.Asn176His) n.231A>C c.382A>C (p.Asn128His) c.607A>C (p.Asn203His) c.409-1006A>C (n.409-1006A>C) | |
1 | g.173911898G>A | CA421823035 | SERPINC1 | c.525C>T (p.Ala175=) n.230C>T c.381C>T (p.Ala127=) c.606C>T (p.Ala202=) c.409-1007C>T (n.409-1007C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.173911898G>C | CA421823036 | SERPINC1 | c.525C>G (p.Ala175=) n.230C>G c.381C>G (p.Ala127=) c.606C>G (p.Ala202=) c.409-1007C>G (n.409-1007C>G) | |
1 | g.173911898G= | CA1207937822 | SERPINC1 | c.525C= (p.Ala175=) n.230C= c.381C= (p.Ala127=) c.606C= (p.Ala202=) c.409-1007C= (n.409-1007C=) | |
1 | g.173911898G>T | CA421823037 | SERPINC1 | c.525C>A (p.Ala175=) n.230C>A c.381C>A (p.Ala127=) c.606C>A (p.Ala202=) c.409-1007C>A (n.409-1007C>A) | |
1 | g.173911899G>A | CA343776504 | SERPINC1 | c.524C>T (p.Ala175Val) n.229C>T c.380C>T (p.Ala127Val) c.605C>T (p.Ala202Val) c.409-1008C>T (n.409-1008C>T) | |
1 | g.173911899G>C | CA343776506 | SERPINC1 | c.524C>G (p.Ala175Gly) n.229C>G c.380C>G (p.Ala127Gly) c.605C>G (p.Ala202Gly) c.409-1008C>G (n.409-1008C>G) | |
1 | g.173911899G>T | CA343776507 | SERPINC1 | c.524C>A (p.Ala175Asp) n.229C>A c.380C>A (p.Ala127Asp) c.605C>A (p.Ala202Asp) c.409-1008C>A (n.409-1008C>A) | |
1 | g.173911900C>A | CA343776509 | SERPINC1 | c.523G>T (p.Ala175Ser) n.228G>T c.379G>T (p.Ala127Ser) c.604G>T (p.Ala202Ser) c.409-1009G>T (n.409-1009G>T) | |
1 | g.173911900C= | CA1207937823 | SERPINC1 | c.523G= (p.Ala175=) n.228G= c.379G= (p.Ala127=) c.604G= (p.Ala202=) c.409-1009G= (n.409-1009G=) | |
1 | g.173911900C>G | CA343776511 | SERPINC1 | c.523G>C (p.Ala175Pro) n.228G>C c.379G>C (p.Ala127Pro) c.604G>C (p.Ala202Pro) c.409-1009G>C (n.409-1009G>C) | |
1 | g.173911900C>T | CA343776513 | SERPINC1 | c.523G>A (p.Ala175Thr) n.228G>A c.379G>A (p.Ala127Thr) c.604G>A (p.Ala202Thr) c.409-1009G>A (n.409-1009G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173911901T>A | CA421823042 | SERPINC1 | c.522A>T (p.Ser174=) n.227A>T c.378A>T (p.Ser126=) c.603A>T (p.Ser201=) c.409-1010A>T (n.409-1010A>T) | |
1 | g.173911901T>C | CA421823043 | SERPINC1 | c.522A>G (p.Ser174=) n.227A>G c.378A>G (p.Ser126=) c.603A>G (p.Ser201=) c.409-1010A>G (n.409-1010A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173911901T>G | CA421823044 | SERPINC1 | c.522A>C (p.Ser174=) n.227A>C c.378A>C (p.Ser126=) c.603A>C (p.Ser201=) c.409-1010A>C (n.409-1010A>C) | |
1 | g.173911902G>A | CA343776519 | SERPINC1 | c.521C>T (p.Ser174Leu) n.226C>T c.377C>T (p.Ser126Leu) c.602C>T (p.Ser201Leu) c.409-1011C>T (n.409-1011C>T) | |
1 | g.173911902G>C | CA343776517 | SERPINC1 | c.521C>G (p.Ser174Ter) n.226C>G c.377C>G (p.Ser126Ter) c.602C>G (p.Ser201Ter) c.409-1011C>G (n.409-1011C>G) | |
1 | g.173911902G>T | CA343776515 | SERPINC1 | c.521C>A (p.Ser174Ter) n.226C>A c.377C>A (p.Ser126Ter) c.602C>A (p.Ser201Ter) c.409-1011C>A (n.409-1011C>A) | |
1 | g.173911903A>C | CA343776520 | SERPINC1 | c.520T>G (p.Ser174Ala) n.225T>G c.376T>G (p.Ser126Ala) c.601T>G (p.Ser201Ala) c.409-1012T>G (n.409-1012T>G) | |
1 | g.173911903A>G | CA343776522 | SERPINC1 | c.520T>C (p.Ser174Pro) n.225T>C c.376T>C (p.Ser126Pro) c.601T>C (p.Ser201Pro) c.409-1012T>C (n.409-1012T>C) | |
1 | g.173911903A>T | CA343776524 | SERPINC1 | c.520T>A (p.Ser174Thr) n.225T>A c.376T>A (p.Ser126Thr) c.601T>A (p.Ser201Thr) c.409-1012T>A (n.409-1012T>A) | |
1 | g.173911904T>A | CA421823048 | SERPINC1 | c.519A>T (p.Val173=) n.224A>T c.375A>T (p.Val125=) c.600A>T (p.Val200=) c.409-1013A>T (n.409-1013A>T) | |
1 | g.173911904T>C | CA421823049 | SERPINC1 | c.519A>G (p.Val173=) n.224A>G c.375A>G (p.Val125=) c.600A>G (p.Val200=) c.409-1013A>G (n.409-1013A>G) | |
1 | g.173911904T>G | CA421823051 | SERPINC1 | c.519A>C (p.Val173=) n.224A>C c.375A>C (p.Val125=) c.600A>C (p.Val200=) c.409-1013A>C (n.409-1013A>C) | |
1 | g.173911905A= | CA1207937824 | SERPINC1 | c.518T= (p.Val173=) n.223T= c.374T= (p.Val125=) c.599T= (p.Val200=) c.409-1014T= (n.409-1014T=) | |
1 | g.173911905A>C | CA343776525 | SERPINC1 | c.518T>G (p.Val173Gly) n.223T>G c.374T>G (p.Val125Gly) c.599T>G (p.Val200Gly) c.409-1014T>G (n.409-1014T>G) | |
1 | g.173911905A>G | CA32781294 | SERPINC1 | c.518T>C (p.Val173Ala) n.223T>C c.374T>C (p.Val125Ala) c.599T>C (p.Val200Ala) c.409-1014T>C (n.409-1014T>C) | dbSNP |
1 | g.173911905A>T | CA343776528 | SERPINC1 | c.518T>A (p.Val173Glu) n.223T>A c.374T>A (p.Val125Glu) c.599T>A (p.Val200Glu) c.409-1014T>A (n.409-1014T>A) | |
1 | g.173911906C>A | CA343776530 | SERPINC1 | c.517G>T (p.Val173Leu) n.222G>T c.373G>T (p.Val125Leu) c.598G>T (p.Val200Leu) c.409-1015G>T (n.409-1015G>T) | |
1 | g.173911906C>G | CA343776533 | SERPINC1 | c.517G>C (p.Val173Leu) n.222G>C c.373G>C (p.Val125Leu) c.598G>C (p.Val200Leu) c.409-1015G>C (n.409-1015G>C) | |
1 | g.173911906C>T | CA343776531 | SERPINC1 | c.517G>A (p.Val173Ile) n.222G>A c.373G>A (p.Val125Ile) c.598G>A (p.Val200Ile) c.409-1015G>A (n.409-1015G>A) | |
1 | g.173911907T>A | CA343776535 | SERPINC1 | c.516A>T (p.Leu172Phe) n.221A>T c.372A>T (p.Leu124Phe) c.597A>T (p.Leu199Phe) c.409-1016A>T (n.409-1016A>T) | |
1 | g.173911907T>C | CA32781296 | SERPINC1 | c.516A>G (p.Leu172=) n.221A>G c.372A>G (p.Leu124=) c.597A>G (p.Leu199=) c.409-1016A>G (n.409-1016A>G) | dbSNP |
1 | g.173911907T>G | CA343776537 | SERPINC1 | c.516A>C (p.Leu172Phe) n.221A>C c.372A>C (p.Leu124Phe) c.597A>C (p.Leu199Phe) c.409-1016A>C (n.409-1016A>C) | |
1 | g.173911907T= | CA1207937825 | SERPINC1 | c.516A= (p.Leu172=) n.221A= c.372A= (p.Leu124=) c.597A= (p.Leu199=) c.409-1016A= (n.409-1016A=) | |
1 | g.173911908A>C | CA343776538 | SERPINC1 | c.515T>G (p.Leu172Ter) n.220T>G c.371T>G (p.Leu124Ter) c.596T>G (p.Leu199Ter) c.409-1017T>G (n.409-1017T>G) | |
1 | g.173911908A>G | CA343776540 | SERPINC1 | c.515T>C (p.Leu172Ser) n.220T>C c.371T>C (p.Leu124Ser) c.596T>C (p.Leu199Ser) c.409-1017T>C (n.409-1017T>C) | |
1 | g.173911908A>T | CA343776542 | SERPINC1 | c.515T>A (p.Leu172Ter) n.220T>A c.371T>A (p.Leu124Ter) c.596T>A (p.Leu199Ter) c.409-1017T>A (n.409-1017T>A) | |
1 | g.173911909A>C | CA343776543 | SERPINC1 | c.514T>G (p.Leu172Val) n.219T>G c.370T>G (p.Leu124Val) c.595T>G (p.Leu199Val) c.409-1018T>G (n.409-1018T>G) | |
1 | g.173911909A>G | CA421823060 | SERPINC1 | c.514T>C (p.Leu172=) n.219T>C c.370T>C (p.Leu124=) c.595T>C (p.Leu199=) c.409-1018T>C (n.409-1018T>C) | |
1 | g.173911909A>T | CA343776544 | SERPINC1 | c.514T>A (p.Leu172Ile) n.219T>A c.370T>A (p.Leu124Ile) c.595T>A (p.Leu199Ile) c.409-1018T>A (n.409-1018T>A) | |
1 | g.173911910C>A | CA343776546 | SERPINC1 | c.513G>T (p.Lys171Asn) n.218G>T c.369G>T (p.Lys123Asn) c.594G>T (p.Lys198Asn) c.409-1019G>T (n.409-1019G>T) | |
1 | g.173911910C= | CA1207937826 | SERPINC1 | c.513G= (p.Lys171=) n.218G= c.369G= (p.Lys123=) c.594G= (p.Lys198=) c.409-1019G= (n.409-1019G=) | |
1 | g.173911910C>G | CA343776548 | SERPINC1 | c.513G>C (p.Lys171Asn) n.218G>C c.369G>C (p.Lys123Asn) c.594G>C (p.Lys198Asn) c.409-1019G>C (n.409-1019G>C) | dbSNP |
1 | g.173911910C>T | CA421823061 | SERPINC1 | c.513G>A (p.Lys171=) n.218G>A c.369G>A (p.Lys123=) c.594G>A (p.Lys198=) c.409-1019G>A (n.409-1019G>A) | |
1 | g.173911911T>A | CA343776550 | SERPINC1 | c.512A>T (p.Lys171Met) n.217A>T c.368A>T (p.Lys123Met) c.593A>T (p.Lys198Met) c.409-1020A>T (n.409-1020A>T) | |
1 | g.173911911T>C | CA343776551 | SERPINC1 | c.512A>G (p.Lys171Arg) n.217A>G c.368A>G (p.Lys123Arg) c.593A>G (p.Lys198Arg) c.409-1020A>G (n.409-1020A>G) | |
1 | g.173911911T>G | CA343776553 | SERPINC1 | c.512A>C (p.Lys171Thr) n.217A>C c.368A>C (p.Lys123Thr) c.593A>C (p.Lys198Thr) c.409-1020A>C (n.409-1020A>C) | |
1 | g.173911911_173911912del | CA2586964421 | SERPINC1 | c.511_512del (p.Lys171ValfsTer17) n.216_217del c.367_368del (p.Lys123ValfsTer17) c.592_593del (p.Lys198ValfsTer17) c.409-1021_409-1020del (n.409-1021_409-1020del) | |
1 | g.173911912T>A | CA343776555 | SERPINC1 | c.511A>T (p.Lys171Ter) n.216A>T c.367A>T (p.Lys123Ter) c.592A>T (p.Lys198Ter) c.409-1021A>T (n.409-1021A>T) | |
1 | g.173911912T>C | CA343776558 | SERPINC1 | c.511A>G (p.Lys171Glu) n.216A>G c.367A>G (p.Lys123Glu) c.592A>G (p.Lys198Glu) c.409-1021A>G (n.409-1021A>G) | dbSNP |
1 | g.173911912T>G | CA343776557 | SERPINC1 | c.511A>C (p.Lys171Gln) n.216A>C c.367A>C (p.Lys123Gln) c.592A>C (p.Lys198Gln) c.409-1021A>C (n.409-1021A>C) | dbSNP |
1 | g.173911912T= | CA1207937827 | SERPINC1 | c.511A= (p.Lys171=) n.216A= c.367A= (p.Lys123=) c.592A= (p.Lys198=) c.409-1021A= (n.409-1021A=) | |
1 | g.173911913G>A | CA421823063 | SERPINC1 | c.510C>T (p.Ser170=) n.215C>T c.366C>T (p.Ser122=) c.591C>T (p.Ser197=) c.409-1022C>T (n.409-1022C>T) | dbSNP |
1 | g.173911913G>C | CA421823066 | SERPINC1 | c.510C>G (p.Ser170=) n.215C>G c.366C>G (p.Ser122=) c.591C>G (p.Ser197=) c.409-1022C>G (n.409-1022C>G) | |
1 | g.173911913G= | CA1207937828 | SERPINC1 | c.510C= (p.Ser170=) n.215C= c.366C= (p.Ser122=) c.591C= (p.Ser197=) c.409-1022C= (n.409-1022C=) | |
1 | g.173911913G>T | CA421823064 | SERPINC1 | c.510C>A (p.Ser170=) n.215C>A c.366C>A (p.Ser122=) c.591C>A (p.Ser197=) c.409-1022C>A (n.409-1022C>A) | |
1 | g.173911914G>A | CA1251404 | SERPINC1 | c.509C>T (p.Ser170Phe) n.214C>T c.365C>T (p.Ser122Phe) c.590C>T (p.Ser197Phe) c.409-1023C>T (n.409-1023C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173911914G>C | CA343776560 | SERPINC1 | c.509C>G (p.Ser170Cys) n.214C>G c.365C>G (p.Ser122Cys) c.590C>G (p.Ser197Cys) c.409-1023C>G (n.409-1023C>G) | |
1 | g.173911914G= | CA1207937829 | SERPINC1 | c.509C= (p.Ser170=) n.214C= c.365C= (p.Ser122=) c.590C= (p.Ser197=) c.409-1023C= (n.409-1023C=) | |
1 | g.173911914G>T | CA343776562 | SERPINC1 | c.509C>A (p.Ser170Tyr) n.214C>A c.365C>A (p.Ser122Tyr) c.590C>A (p.Ser197Tyr) c.409-1023C>A (n.409-1023C>A) | |
1 | g.173911915A= | CA1207937830 | SERPINC1 | c.508T= (p.Ser170=) n.213T= c.364T= (p.Ser122=) c.589T= (p.Ser197=) c.409-1024T= (n.409-1024T=) | |
1 | g.173911915A>C | CA343776563 | SERPINC1 | c.508T>G (p.Ser170Ala) n.213T>G c.364T>G (p.Ser122Ala) c.589T>G (p.Ser197Ala) c.409-1024T>G (n.409-1024T>G) | |
1 | g.173911915A>G | CA343776565 | SERPINC1 | c.508T>C (p.Ser170Pro) n.213T>C c.364T>C (p.Ser122Pro) c.589T>C (p.Ser197Pro) c.409-1024T>C (n.409-1024T>C) | dbSNP gnomAD v4 COSMIC |
1 | g.173911915A>T | CA343776567 | SERPINC1 | c.508T>A (p.Ser170Thr) n.213T>A c.364T>A (p.Ser122Thr) c.589T>A (p.Ser197Thr) c.409-1024T>A (n.409-1024T>A) | |
1 | g.173911916G>A | CA421823069 | SERPINC1 | c.507C>T (p.Ser169=) n.212C>T c.363C>T (p.Ser121=) c.588C>T (p.Ser196=) c.409-1025C>T (n.409-1025C>T) | |
1 | g.173911916G>C | CA421823070 | SERPINC1 | c.507C>G (p.Ser169=) n.212C>G c.363C>G (p.Ser121=) c.588C>G (p.Ser196=) c.409-1025C>G (n.409-1025C>G) | |
1 | g.173911916G>T | CA421823071 | SERPINC1 | c.507C>A (p.Ser169=) n.212C>A c.363C>A (p.Ser121=) c.588C>A (p.Ser196=) c.409-1025C>A (n.409-1025C>A) | |
1 | g.173911917G>A | CA150687 | SERPINC1 | c.506C>T (p.Ser169Phe) n.211C>T c.362C>T (p.Ser121Phe) c.587C>T (p.Ser196Phe) c.409-1026C>T (n.409-1026C>T) | ClinVar dbSNP |
1 | g.173911917G>C | CA343776568 | SERPINC1 | c.506C>G (p.Ser169Cys) n.211C>G c.362C>G (p.Ser121Cys) c.587C>G (p.Ser196Cys) c.409-1026C>G (n.409-1026C>G) | |
1 | g.173911917G= | CA1144233212 | SERPINC1 | c.506C= (p.Ser169=) n.211C= c.362C= (p.Ser121=) c.587C= (p.Ser196=) c.409-1026C= (n.409-1026C=) | |
1 | g.173911917G>T | CA343776570 | SERPINC1 | c.506C>A (p.Ser169Tyr) n.211C>A c.362C>A (p.Ser121Tyr) c.587C>A (p.Ser196Tyr) c.409-1026C>A (n.409-1026C>A) | |
1 | g.173911918A= | CA1207937831 | SERPINC1 | c.505T= (p.Ser169=) n.210T= c.361T= (p.Ser121=) c.586T= (p.Ser196=) c.409-1027T= (n.409-1027T=) | |
1 | g.173911918A>C | CA343776573 | SERPINC1 | c.505T>G (p.Ser169Ala) n.210T>G c.361T>G (p.Ser121Ala) c.586T>G (p.Ser196Ala) c.409-1027T>G (n.409-1027T>G) | |
1 | g.173911918A>G | CA343776575 | SERPINC1 | c.505T>C (p.Ser169Pro) n.210T>C c.361T>C (p.Ser121Pro) c.586T>C (p.Ser196Pro) c.409-1027T>C (n.409-1027T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173911918A>T | CA343776576 | SERPINC1 | c.505T>A (p.Ser169Thr) n.210T>A c.361T>A (p.Ser121Thr) c.586T>A (p.Ser196Thr) c.409-1027T>A (n.409-1027T>A) | |
1 | g.173911919T>A | CA343776577 | SERPINC1 | c.504A>T (p.Lys168Asn) n.209A>T c.360A>T (p.Lys120Asn) c.585A>T (p.Lys195Asn) c.409-1028A>T (n.409-1028A>T) | |
1 | g.173911919T>C | CA421823078 | SERPINC1 | c.504A>G (p.Lys168=) n.209A>G c.360A>G (p.Lys120=) c.585A>G (p.Lys195=) c.409-1028A>G (n.409-1028A>G) | dbSNP |
1 | g.173911919T>G | CA343776578 | SERPINC1 | c.504A>C (p.Lys168Asn) n.209A>C c.360A>C (p.Lys120Asn) c.585A>C (p.Lys195Asn) c.409-1028A>C (n.409-1028A>C) | |
1 | g.173911919T= | CA1207937832 | SERPINC1 | c.504A= (p.Lys168=) n.209A= c.360A= (p.Lys120=) c.585A= (p.Lys195=) c.409-1028A= (n.409-1028A=) | |
1 | g.173911921del | CA2586964422 | SERPINC1 | c.504del (p.Lys168AsnfsTer5) n.209del c.360del (p.Lys120AsnfsTer5) c.585del (p.Lys195AsnfsTer5) c.409-1028del (n.409-1028del) | |
1 | g.173911920T>A | CA343776581 | SERPINC1 | c.503A>T (p.Lys168Ile) n.208A>T c.359A>T (p.Lys120Ile) c.584A>T (p.Lys195Ile) c.409-1029A>T (n.409-1029A>T) | |
1 | g.173911920T>C | CA343776584 | SERPINC1 | c.503A>G (p.Lys168Arg) n.208A>G c.359A>G (p.Lys120Arg) c.584A>G (p.Lys195Arg) c.409-1029A>G (n.409-1029A>G) | |
1 | g.173911920T>G | CA343776583 | SERPINC1 | c.503A>C (p.Lys168Thr) n.208A>C c.359A>C (p.Lys120Thr) c.584A>C (p.Lys195Thr) c.409-1029A>C (n.409-1029A>C) | |
1 | g.173911921T>A | CA343776586 | SERPINC1 | c.502A>T (p.Lys168Ter) n.207A>T c.358A>T (p.Lys120Ter) c.583A>T (p.Lys195Ter) c.409-1030A>T (n.409-1030A>T) | |
1 | g.173911921T>C | CA343776588 | SERPINC1 | c.502A>G (p.Lys168Glu) n.207A>G c.358A>G (p.Lys120Glu) c.583A>G (p.Lys195Glu) c.409-1030A>G (n.409-1030A>G) | |
1 | g.173911921T>G | CA343776589 | SERPINC1 | c.502A>C (p.Lys168Gln) n.207A>C c.358A>C (p.Lys120Gln) c.583A>C (p.Lys195Gln) c.409-1030A>C (n.409-1030A>C) | |
1 | g.173911921T= | CA1207937833 | SERPINC1 | c.502A= (p.Lys168=) n.207A= c.358A= (p.Lys120=) c.583A= (p.Lys195=) c.409-1030A= (n.409-1030A=) | |
1 | g.173911922G>A | CA421823080 | SERPINC1 | c.501C>T (p.Asn167=) n.206C>T c.357C>T (p.Asn119=) c.582C>T (p.Asn194=) c.409-1031C>T (n.409-1031C>T) | dbSNP |
1 | g.173911922G>C | CA343776591 | SERPINC1 | c.501C>G (p.Asn167Lys) n.206C>G c.357C>G (p.Asn119Lys) c.582C>G (p.Asn194Lys) c.409-1031C>G (n.409-1031C>G) | |
1 | g.173911922G= | CA1207937834 | SERPINC1 | c.501C= (p.Asn167=) n.206C= c.357C= (p.Asn119=) c.582C= (p.Asn194=) c.409-1031C= (n.409-1031C=) | |
1 | g.173911922G>T | CA343776593 | SERPINC1 | c.501C>A (p.Asn167Lys) n.206C>A c.357C>A (p.Asn119Lys) c.582C>A (p.Asn194Lys) c.409-1031C>A (n.409-1031C>A) | |
1 | g.173911922dup | CA891314866 | SERPINC1 | c.501dup (p.Lys168GlnfsTer21) n.206dup c.357dup (p.Lys120GlnfsTer21) c.582dup (p.Lys195GlnfsTer21) c.409-1031dup (n.409-1031dup) | dbSNP |
1 | g.173911923T>A | CA343776594 | SERPINC1 | c.500A>T (p.Asn167Ile) n.205A>T c.356A>T (p.Asn119Ile) c.581A>T (p.Asn194Ile) c.409-1032A>T (n.409-1032A>T) | |
1 | g.173911923T>C | CA343776596 | SERPINC1 | c.500A>G (p.Asn167Ser) n.205A>G c.356A>G (p.Asn119Ser) c.581A>G (p.Asn194Ser) c.409-1032A>G (n.409-1032A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173911923T>G | CA210795 | SERPINC1 | c.500A>C (p.Asn167Thr) n.205A>C c.356A>C (p.Asn119Thr) c.581A>C (p.Asn194Thr) c.409-1032A>C (n.409-1032A>C) | ClinVar dbSNP |
1 | g.173911923T= | CA1141581222 | SERPINC1 | c.500A= (p.Asn167=) n.205A= c.356A= (p.Asn119=) c.581A= (p.Asn194=) c.409-1032A= (n.409-1032A=) | |
1 | g.173911924T>A | CA343776599 | SERPINC1 | c.499A>T (p.Asn167Tyr) n.204A>T c.355A>T (p.Asn119Tyr) c.580A>T (p.Asn194Tyr) c.409-1033A>T (n.409-1033A>T) | |
1 | g.173911924T>C | CA343776601 | SERPINC1 | c.499A>G (p.Asn167Asp) n.204A>G c.355A>G (p.Asn119Asp) c.580A>G (p.Asn194Asp) c.409-1033A>G (n.409-1033A>G) | |
1 | g.173911924T>G | CA343776603 | SERPINC1 | c.499A>C (p.Asn167His) n.204A>C c.355A>C (p.Asn119His) c.580A>C (p.Asn194His) c.409-1033A>C (n.409-1033A>C) | |
1 | g.173911925G>A | CA421823088 | SERPINC1 | c.498C>T (p.Ala166=) n.203C>T c.354C>T (p.Ala118=) c.579C>T (p.Ala193=) c.409-1034C>T (n.409-1034C>T) | |
1 | g.173911925G>C | CA421823089 | SERPINC1 | c.498C>G (p.Ala166=) n.203C>G c.354C>G (p.Ala118=) c.579C>G (p.Ala193=) c.409-1034C>G (n.409-1034C>G) | |
1 | g.173911925G>T | CA421823090 | SERPINC1 | c.498C>A (p.Ala166=) n.203C>A c.354C>A (p.Ala118=) c.579C>A (p.Ala193=) c.409-1034C>A (n.409-1034C>A) | COSMIC |
1 | g.173911926G>A | CA343776606 | SERPINC1 | c.497C>T (p.Ala166Val) n.202C>T c.353C>T (p.Ala118Val) c.578C>T (p.Ala193Val) c.409-1035C>T (n.409-1035C>T) | |
1 | g.173911926G>C | CA343776608 | SERPINC1 | c.497C>G (p.Ala166Gly) n.202C>G c.353C>G (p.Ala118Gly) c.578C>G (p.Ala193Gly) c.409-1035C>G (n.409-1035C>G) | |
1 | g.173911926G>T | CA343776605 | SERPINC1 | c.497C>A (p.Ala166Asp) n.202C>A c.353C>A (p.Ala118Asp) c.578C>A (p.Ala193Asp) c.409-1035C>A (n.409-1035C>A) | |
1 | g.173911927C>A | CA343776610 | SERPINC1 | c.496G>T (p.Ala166Ser) n.201G>T c.352G>T (p.Ala118Ser) c.577G>T (p.Ala193Ser) c.409-1036G>T (n.409-1036G>T) | |
1 | g.173911927C>G | CA343776613 | SERPINC1 | c.496G>C (p.Ala166Pro) n.201G>C c.352G>C (p.Ala118Pro) c.577G>C (p.Ala193Pro) c.409-1036G>C (n.409-1036G>C) | |
1 | g.173911927C>T | CA343776612 | SERPINC1 | c.496G>A (p.Ala166Thr) n.201G>A c.352G>A (p.Ala118Thr) c.577G>A (p.Ala193Thr) c.409-1036G>A (n.409-1036G>A) | |
1 | g.173911928T>A | CA343776615 | SERPINC1 | c.495A>T (p.Lys165Asn) n.200A>T c.351A>T (p.Lys117Asn) c.576A>T (p.Lys192Asn) c.409-1037A>T (n.409-1037A>T) | |
1 | g.173911928T>C | CA421823096 | SERPINC1 | c.495A>G (p.Lys165=) n.200A>G c.351A>G (p.Lys117=) c.576A>G (p.Lys192=) c.409-1037A>G (n.409-1037A>G) | |
1 | g.173911928T>G | CA343776616 | SERPINC1 | c.495A>C (p.Lys165Asn) n.200A>C c.351A>C (p.Lys117Asn) c.576A>C (p.Lys192Asn) c.409-1037A>C (n.409-1037A>C) | |
1 | g.173911931del | CA2580650881 | SERPINC1 | c.495del (p.Ala166ProfsTer7) n.200del c.351del (p.Ala118ProfsTer7) c.576del (p.Ala193ProfsTer7) c.409-1037del (n.409-1037del) | |
1 | g.173911929T>A | CA343776619 | SERPINC1 | c.494A>T (p.Lys165Ile) n.199A>T c.350A>T (p.Lys117Ile) c.575A>T (p.Lys192Ile) c.409-1038A>T (n.409-1038A>T) | |
1 | g.173911929T>C | CA343776621 | SERPINC1 | c.494A>G (p.Lys165Arg) n.199A>G c.350A>G (p.Lys117Arg) c.575A>G (p.Lys192Arg) c.409-1038A>G (n.409-1038A>G) | |
1 | g.173911929T>G | CA343776620 | SERPINC1 | c.494A>C (p.Lys165Thr) n.199A>C c.350A>C (p.Lys117Thr) c.575A>C (p.Lys192Thr) c.409-1038A>C (n.409-1038A>C) | |
1 | g.173911930T>A | CA343776623 | SERPINC1 | c.493A>T (p.Lys165Ter) n.198A>T c.349A>T (p.Lys117Ter) c.574A>T (p.Lys192Ter) c.409-1039A>T (n.409-1039A>T) | |
1 | g.173911930T>C | CA343776625 | SERPINC1 | c.493A>G (p.Lys165Glu) n.198A>G c.349A>G (p.Lys117Glu) c.574A>G (p.Lys192Glu) c.409-1039A>G (n.409-1039A>G) | |
1 | g.173911930T>G | CA343776626 | SERPINC1 | c.493A>C (p.Lys165Gln) n.198A>C c.349A>C (p.Lys117Gln) c.574A>C (p.Lys192Gln) c.409-1039A>C (n.409-1039A>C) | |
1 | g.173911931T>A | CA421823098 | SERPINC1 | c.492A>T (p.Arg164=) n.197A>T c.348A>T (p.Arg116=) c.573A>T (p.Arg191=) c.409-1040A>T (n.409-1040A>T) | |
1 | g.173911931T>C | CA421823099 | SERPINC1 | c.492A>G (p.Arg164=) n.197A>G c.348A>G (p.Arg116=) c.573A>G (p.Arg191=) c.409-1040A>G (n.409-1040A>G) | |
1 | g.173911931T>G | CA421823100 | SERPINC1 | c.492A>C (p.Arg164=) n.197A>C c.348A>C (p.Arg116=) c.573A>C (p.Arg191=) c.409-1040A>C (n.409-1040A>C) | |
1 | g.173911932C>A | CA343776628 | SERPINC1 | c.491G>T (p.Arg164Leu) n.196G>T c.347G>T (p.Arg116Leu) c.572G>T (p.Arg191Leu) c.409-1041G>T (n.409-1041G>T) | |
1 | g.173911932C= | CA1144233213 | SERPINC1 | c.491G= (p.Arg164=) n.196G= c.347G= (p.Arg116=) c.572G= (p.Arg191=) c.409-1041G= (n.409-1041G=) | |
1 | g.173911932C>G | CA343776629 | SERPINC1 | c.491G>C (p.Arg164Pro) n.196G>C c.347G>C (p.Arg116Pro) c.572G>C (p.Arg191Pro) c.409-1041G>C (n.409-1041G>C) | |
1 | g.173911932C>T | CA150684 | SERPINC1 | c.491G>A (p.Arg164Gln) n.196G>A c.347G>A (p.Arg116Gln) c.572G>A (p.Arg191Gln) c.409-1041G>A (n.409-1041G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173911933del | CA2586964423 | SERPINC1 | c.490del (p.Arg164GlufsTer9) n.195del c.346del (p.Arg116GlufsTer9) c.571del (p.Arg191GlufsTer9) c.409-1042del (n.409-1042del) | |
1 | g.173911933G>A | CA32781302 | SERPINC1 | c.490C>T (p.Arg164Ter) n.195C>T c.346C>T (p.Arg116Ter) c.571C>T (p.Arg191Ter) c.409-1042C>T (n.409-1042C>T) | ClinVar dbSNP |
1 | g.173911933G>C | CA343776632 | SERPINC1 | c.490C>G (p.Arg164Gly) n.195C>G c.346C>G (p.Arg116Gly) c.571C>G (p.Arg191Gly) c.409-1042C>G (n.409-1042C>G) | |
1 | g.173911933G= | CA1143355584 | SERPINC1 | c.490C= (p.Arg164=) n.195C= c.346C= (p.Arg116=) c.571C= (p.Arg191=) c.409-1042C= (n.409-1042C=) | |
1 | g.173911933G>T | CA1251405 | SERPINC1 | c.490C>A (p.Arg164=) n.195C>A c.346C>A (p.Arg116=) c.571C>A (p.Arg191=) c.409-1042C>A (n.409-1042C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173911934A>C | CA343776636 | SERPINC1 | c.489T>G (p.Tyr163Ter) n.194T>G c.345T>G (p.Tyr115Ter) c.570T>G (p.Tyr190Ter) c.409-1043T>G (n.409-1043T>G) | |
1 | g.173911934A>G | CA421823106 | SERPINC1 | c.489T>C (p.Tyr163=) n.194T>C c.345T>C (p.Tyr115=) c.570T>C (p.Tyr190=) c.409-1043T>C (n.409-1043T>C) | |
1 | g.173911934A>T | CA343776637 | SERPINC1 | c.489T>A (p.Tyr163Ter) n.194T>A c.345T>A (p.Tyr115Ter) c.570T>A (p.Tyr190Ter) c.409-1043T>A (n.409-1043T>A) | |
1 | g.173911935T>A | CA343776641 | SERPINC1 | c.488A>T (p.Tyr163Phe) n.193A>T c.344A>T (p.Tyr115Phe) c.569A>T (p.Tyr190Phe) c.409-1044A>T (n.409-1044A>T) | |
1 | g.173911935T>C | CA343776639 | SERPINC1 | c.488A>G (p.Tyr163Cys) n.193A>G c.344A>G (p.Tyr115Cys) c.569A>G (p.Tyr190Cys) c.409-1044A>G (n.409-1044A>G) | |
1 | g.173911935T>G | CA343776640 | SERPINC1 | c.488A>C (p.Tyr163Ser) n.193A>C c.344A>C (p.Tyr115Ser) c.569A>C (p.Tyr190Ser) c.409-1044A>C (n.409-1044A>C) | |
1 | g.173911935_173911937delinsTAG | CA1207937835 | SERPINC1 | c.486_488delinsCTA (p.Leu162=) n.191_193delinsCTA c.342_344delinsCTA (p.Leu114=) c.567_569delinsCTA (p.Leu189=) c.409-1046_409-1044delinsCTA (n.409-1046_409-1044delinsCTA) | |
1 | g.173911936A>C | CA343776643 | SERPINC1 | c.487T>G (p.Tyr163Asp) n.192T>G c.343T>G (p.Tyr115Asp) c.568T>G (p.Tyr190Asp) c.409-1045T>G (n.409-1045T>G) | |
1 | g.173911936A>G | CA343776645 | SERPINC1 | c.487T>C (p.Tyr163His) n.192T>C c.343T>C (p.Tyr115His) c.568T>C (p.Tyr190His) c.409-1045T>C (n.409-1045T>C) | |
1 | g.173911936A>T | CA343776647 | SERPINC1 | c.487T>A (p.Tyr163Asn) n.192T>A c.343T>A (p.Tyr115Asn) c.568T>A (p.Tyr190Asn) c.409-1045T>A (n.409-1045T>A) | |
1 | g.173911936_173911939delinsAGAG | CA1144233214 | SERPINC1 | c.484_487delinsCTCT (p.Leu162=) n.189_192delinsCTCT c.340_343delinsCTCT (p.Leu114=) c.565_568delinsCTCT (p.Leu189=) c.409-1048_409-1045delinsCTCT (n.409-1048_409-1045delinsCTCT) | |
1 | g.173911938_173911939del | CA150683 | SERPINC1 | c.486_487del (p.Tyr163SerfsTer25) n.191_192del c.342_343del (p.Tyr115SerfsTer25) c.567_568del (p.Tyr190SerfsTer25) c.409-1046_409-1045del (n.409-1046_409-1045del) | ClinVar dbSNP COSMIC |