Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.173903791_173903793delinsCAG | CA1207934324 | SERPINC1 | c.*96_*98delinsCTG (n.*96_*98delinsCTG) | |
1 | g.173903794_173903795del | CA1207934325 | SERPINC1 | c.*96_*97del (n.*96_*97del) | dbSNP gnomAD v4 |
1 | g.173903793_173903795dup | CA2649174096 | SERPINC1 | c.*94_*96dup (n.*94_*96dup) | dbSNP gnomAD v4 |
1 | g.173903795G>T | CA2573951791 | SERPINC1 | c.*94C>A (n.*94C>A) | gnomAD v4 |
1 | g.173903796T>C | CA1207934327 | SERPINC1 | c.*93A>G (n.*93A>G) | dbSNP |
1 | g.173903796T= | CA1207934326 | SERPINC1 | c.*93A= (n.*93A=) | |
1 | g.173903797C= | CA1207934328 | SERPINC1 | c.*92G= (n.*92G=) | |
1 | g.173903797C>T | CA32777154 | SERPINC1 | c.*92G>A (n.*92G>A) | dbSNP gnomAD v4 |
1 | g.173903798C>T | CA2649174097 | SERPINC1 | c.*91G>A (n.*91G>A) | gnomAD v4 |
1 | g.173903799A= | CA1146986776 | SERPINC1 | c.*90T= (n.*90T=) | |
1 | g.173903799A>G | CA32777160 | SERPINC1 | c.*90T>C (n.*90T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173903800T>C | CA646271016 | SERPINC1 | c.*89A>G (n.*89A>G) | gnomAD v4 COSMIC |
1 | g.173903806del | CA2573951795 | SERPINC1 | c.*84del (n.*84del) | |
1 | g.173903807T>C | CA2649174098 | SERPINC1 | c.*82A>G (n.*82A>G) | gnomAD v4 |
1 | g.173903808G= | CA1207934329 | SERPINC1 | c.*81C= (n.*81C=) | |
1 | g.173903808G>T | CA891309436 | SERPINC1 | c.*81C>A (n.*81C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173903809T>C | CA2573951803 | SERPINC1 | c.*80A>G (n.*80A>G) | |
1 | g.173903809T>G | CA2573951838 | SERPINC1 | c.*80A>C (n.*80A>C) | gnomAD v4 |
1 | g.173903810G>T | CA2649174099 | SERPINC1 | c.*79C>A (n.*79C>A) | gnomAD v4 |
1 | g.173903812G>T | CA2649174100 | SERPINC1 | c.*77C>A (n.*77C>A) | gnomAD v4 |
1 | g.173903814T>A | CA2649174101 | SERPINC1 | c.*75A>T (n.*75A>T) | gnomAD v4 |
1 | g.173903814T= | CA1207934330 | SERPINC1 | c.*75A= (n.*75A=) | |
1 | g.173903815G>A | CA2649174102 | SERPINC1 | c.*74C>T (n.*74C>T) | gnomAD v4 |
1 | g.173903815G>T | CA2573951869 | SERPINC1 | c.*74C>A (n.*74C>A) | gnomAD v4 |
1 | g.173903816dup | CA1207934331 | SERPINC1 | c.*74dup (n.*74dup) | dbSNP gnomAD v4 |
1 | g.173903816G>T | CA2649174103 | SERPINC1 | c.*73C>A (n.*73C>A) | gnomAD v4 |
1 | g.173903817A>G | CA2573951871 | SERPINC1 | c.*72T>C (n.*72T>C) | gnomAD v4 |
1 | g.173903820T>G | CA2573951881 | SERPINC1 | c.*69A>C (n.*69A>C) | |
1 | g.173903822G>C | CA2649174104 | SERPINC1 | c.*67C>G (n.*67C>G) | gnomAD v4 |
1 | g.173903822G>T | CA2649174105 | SERPINC1 | c.*67C>A (n.*67C>A) | gnomAD v4 |
1 | g.173903822_173903830delinsGTTTGTATT | CA1207934332 | SERPINC1 | c.*59_*67delinsAATACAAAC (n.*59_*67delinsAATACAAAC) | |
1 | g.173903824_173903831del | CA1207934333 | SERPINC1 | c.*59_*66del (n.*59_*66del) | dbSNP |
1 | g.173903825T>G | CA2649174106 | SERPINC1 | c.*64A>C (n.*64A>C) | gnomAD v4 |
1 | g.173903826G>T | CA2649174107 | SERPINC1 | c.*63C>A (n.*63C>A) | gnomAD v4 |
1 | g.173903826_173903830delinsGTATT | CA1207934334 | SERPINC1 | c.*59_*63delinsAATAC (n.*59_*63delinsAATAC) | |
1 | g.173903827T>A | CA2649174108 | SERPINC1 | c.*62A>T (n.*62A>T) | gnomAD v4 |
1 | g.173903832_173903835del | CA1207934335 | SERPINC1 | c.*59_*62del (n.*59_*62del) | dbSNP |
1 | g.173903828A>T | CA2649174109 | SERPINC1 | c.*61T>A (n.*61T>A) | gnomAD v4 |
1 | g.173903829T>C | CA891309439 | SERPINC1 | c.*60A>G (n.*60A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173903829T= | CA1207934336 | SERPINC1 | c.*60A= (n.*60A=) | |
1 | g.173903830T>A | CA32777163 | SERPINC1 | c.*59A>T (n.*59A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173903830T= | CA1207934337 | SERPINC1 | c.*59A= (n.*59A=) | |
1 | g.173903831T>C | CA2649174110 | SERPINC1 | c.*58A>G (n.*58A>G) | gnomAD v4 |
1 | g.173903832A>G | CA2573951882 | SERPINC1 | c.*57T>C (n.*57T>C) | dbSNP |
1 | g.173903832A>T | CA2746673697 | SERPINC1 | c.*57T>A (n.*57T>A) | |
1 | g.173903833T>A | CA2649174111 | SERPINC1 | c.*56A>T (n.*56A>T) | gnomAD v4 |
1 | g.173903836T>C | CA1207934339 | SERPINC1 | c.*53A>G (n.*53A>G) | dbSNP |
1 | g.173903836T= | CA1207934338 | SERPINC1 | c.*53A= (n.*53A=) | |
1 | g.173903837T>C | CA2649174112 | SERPINC1 | c.*52A>G (n.*52A>G) | gnomAD v4 |
1 | g.173903838A= | CA1207934340 | SERPINC1 | c.*51T= (n.*51T=) | |
1 | g.173903838A>G | CA2649174113 | SERPINC1 | c.*51T>C (n.*51T>C) | gnomAD v4 |
1 | g.173903838A>T | CA527298248 | SERPINC1 | c.*51T>A (n.*51T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173903839C>A | CA2649174114 | SERPINC1 | c.*50G>T (n.*50G>T) | gnomAD v4 |
1 | g.173903839C= | CA1207934341 | SERPINC1 | c.*50G= (n.*50G=) | |
1 | g.173903839C>T | CA1251204 | SERPINC1 | c.*50G>A (n.*50G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173903840_173903842delinsTTC | CA1207934342 | SERPINC1 | c.*47_*49delinsGAA (n.*47_*49delinsGAA) | |
1 | g.173903841T>A | CA527298253 | SERPINC1 | c.*48A>T (n.*48A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173903841T= | CA1207934343 | SERPINC1 | c.*48A= (n.*48A=) | |
1 | g.173903842_173903843del | CA527298251 | SERPINC1 | c.*47_*48del (n.*47_*48del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173903842C>A | CA2746673698 | SERPINC1 | c.*47G>T (n.*47G>T) | |
1 | g.173903842C= | CA1207934344 | SERPINC1 | c.*47G= (n.*47G=) | |
1 | g.173903842C>G | CA1207934345 | SERPINC1 | c.*47G>C (n.*47G>C) | dbSNP |
1 | g.173903844G>T | CA2649174115 | SERPINC1 | c.*45C>A (n.*45C>A) | gnomAD v4 |
1 | g.173903846T>C | CA2649174116 | SERPINC1 | c.*43A>G (n.*43A>G) | gnomAD v4 |
1 | g.173903851A>G | CA2649174117 | SERPINC1 | c.*38T>C (n.*38T>C) | gnomAD v4 |
1 | g.173903851A>T | CA2573951892 | SERPINC1 | c.*38T>A (n.*38T>A) | |
1 | g.173903852A>G | CA2746673699 | SERPINC1 | c.*37T>C (n.*37T>C) | |
1 | g.173903852A>T | CA2649174118 | SERPINC1 | c.*37T>A (n.*37T>A) | dbSNP gnomAD v4 |
1 | g.173903853C>T | CA2649174119 | SERPINC1 | c.*36G>A (n.*36G>A) | gnomAD v4 |
1 | g.173903854_173903855delinsCA | CA1207934346 | SERPINC1 | c.*34_*35delinsTG (n.*34_*35delinsTG) | |
1 | g.173903855A= | CA1144171631 | SERPINC1 | c.*34T= (n.*34T=) | |
1 | g.173903855A>G | CA1251207 | SERPINC1 | c.*34T>C (n.*34T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173903859dup | CA1251206 | SERPINC1 | c.*34dup (n.*34dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173903859del | CA1251205 | SERPINC1 | c.*34del (n.*34del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173903860T>C | CA32777194 | SERPINC1 | c.*29A>G (n.*29A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173903860T>G | CA2649174120 | SERPINC1 | c.*29A>C (n.*29A>C) | gnomAD v4 |
1 | g.173903860T= | CA1143736143 | SERPINC1 | c.*29A= (n.*29A=) | |
1 | g.173903860_173903864delinsTAGGA | CA1207934347 | SERPINC1 | c.*25_*29delinsTCCTA (n.*25_*29delinsTCCTA) | |
1 | g.173903863_173903866del | CA891309447 | SERPINC1 | c.*25_*28del (n.*25_*28del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173903863G>A | CA2649174121 | SERPINC1 | c.*26C>T (n.*26C>T) | gnomAD v4 |
1 | g.173903865A>C | CA2649174122 | SERPINC1 | c.*24T>G (n.*24T>G) | gnomAD v4 |
1 | g.173903865A>G | CA2649174123 | SERPINC1 | c.*24T>C (n.*24T>C) | gnomAD v4 |
1 | g.173903866G>A | CA2649174124 | SERPINC1 | c.*23C>T (n.*23C>T) | gnomAD v4 |
1 | g.173903867A>G | CA2649174125 | SERPINC1 | c.*22T>C (n.*22T>C) | gnomAD v4 |
1 | g.173903868G>A | CA2555486788 | SERPINC1 | c.*21C>T (n.*21C>T) | |
1 | g.173903868G= | CA1207934348 | SERPINC1 | c.*21C= (n.*21C=) | |
1 | g.173903868G>T | CA32777199 | SERPINC1 | c.*21C>A (n.*21C>A) | dbSNP |
1 | g.173903869G>A | CA1207934350 | SERPINC1 | c.*20C>T (n.*20C>T) | dbSNP gnomAD v4 |
1 | g.173903869G>C | CA527298257 | SERPINC1 | c.*20C>G (n.*20C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173903869G= | CA1207934349 | SERPINC1 | c.*20C= (n.*20C=) | |
1 | g.173903869G>T | CA1207934351 | SERPINC1 | c.*20C>A (n.*20C>A) | dbSNP gnomAD v4 |
1 | g.173903871G>A | CA2508759115 | SERPINC1 | c.*18C>T (n.*18C>T) | |
1 | g.173903871G= | CA1207934352 | SERPINC1 | c.*18C= (n.*18C=) | |
1 | g.173903871G>T | CA1251208 | SERPINC1 | c.*18C>A (n.*18C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173903872C= | CA1207934353 | SERPINC1 | c.*17G= (n.*17G=) | |
1 | g.173903872C>G | CA1251209 | SERPINC1 | c.*17G>C (n.*17G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173903872C>T | CA2571826113 | SERPINC1 | c.*17G>A (n.*17G>A) | |
1 | g.173903874_173903875insG | CA646271017 | SERPINC1 | c.*14_*15insC (n.*14_*15insC) | COSMIC COSMIC |
1 | g.173903877A= | CA1207934354 | SERPINC1 | c.*12T= (n.*12T=) | |
1 | g.173903877A>C | CA1251210 | SERPINC1 | c.*12T>G (n.*12T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173903878A= | CA1207934355 | SERPINC1 | c.*11T= (n.*11T=) | |
1 | g.173903878A>C | CA2649174126 | SERPINC1 | c.*11T>G (n.*11T>G) | gnomAD v4 |
1 | g.173903878A>G | CA1009275059 | SERPINC1 | c.*11T>C (n.*11T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173903882_173903884del | CA2560111250 | SERPINC1 | c.*7_*9del (n.*7_*9del) | |
1 | g.173903883A= | CA1207934356 | SERPINC1 | c.*6T= (n.*6T=) | |
1 | g.173903883A>G | CA32777211 | SERPINC1 | c.*6T>C (n.*6T>C) | dbSNP gnomAD v4 |
1 | g.173903884_173903886dup | CA2649174127 | SERPINC1 | c.*4_*6dup (n.*4_*6dup) | gnomAD v4 |
1 | g.173903885C>A | CA32777215 | SERPINC1 | c.*4G>T (n.*4G>T) | dbSNP |
1 | g.173903885C= | CA1207934357 | SERPINC1 | c.*4G= (n.*4G=) | |
1 | g.173903886A>T | CA2649174128 | SERPINC1 | c.*3T>A (n.*3T>A) | gnomAD v4 |
1 | g.173903887T>C | CA2537112818 | SERPINC1 | c.*2A>G (n.*2A>G) | |
1 | g.173903890del | CA2573951909 | SERPINC1 | c.*2del (n.*2del) | |
1 | g.173903889T>A | CA343771970 | SERPINC1 | c.1395A>T (p.Ter465Tyr) c.780A>T (p.Ter260Tyr) c.1251A>T (p.Ter417Tyr) c.1518A>T (p.Ter506Tyr) c.1476A>T (p.Ter492Tyr) c.1374A>T (p.Ter458Tyr) c.1338A>T (p.Ter446Tyr) c.1179A>T (p.Ter393Tyr) | |
1 | g.173903889T>C | CA421821125 | SERPINC1 | c.1395A>G (p.Ter465=) c.780A>G (p.Ter260=) c.1251A>G (p.Ter417=) c.1518A>G (p.Ter506=) c.1476A>G (p.Ter492=) c.1374A>G (p.Ter458=) c.1338A>G (p.Ter446=) c.1179A>G (p.Ter393=) | |
1 | g.173903889T>G | CA343771973 | SERPINC1 | c.1395A>C (p.Ter465Tyr) c.780A>C (p.Ter260Tyr) c.1251A>C (p.Ter417Tyr) c.1518A>C (p.Ter506Tyr) c.1476A>C (p.Ter492Tyr) c.1374A>C (p.Ter458Tyr) c.1338A>C (p.Ter446Tyr) c.1179A>C (p.Ter393Tyr) | ClinVar |
1 | g.173903892_173903895dup | CA2649174129 | SERPINC1 | c.1392_1395dup (n.1392_1395dup) c.777_780dup (n.777_780dup) c.1248_1251dup (n.1248_1251dup) c.1515_1518dup (n.1515_1518dup) c.1473_1476dup (n.1473_1476dup) c.1371_1374dup (n.1371_1374dup) c.1335_1338dup (n.1335_1338dup) c.1176_1179dup (n.1176_1179dup) | gnomAD v4 |
1 | g.173903892_173903895del | CA2586967694 | SERPINC1 | c.1392_1395del (p.Ter465MetextTer14) c.777_780del (p.Ter260MetextTer14) c.1248_1251del (p.Ter417MetextTer14) c.1515_1518del (p.Ter506MetextTer14) c.1473_1476del (p.Ter492MetextTer14) c.1371_1374del (p.Ter458MetextTer14) c.1335_1338del (p.Ter446MetextTer14) c.1176_1179del (p.Ter393MetextTer14) | |
1 | g.173903890T>A | CA343771976 | SERPINC1 | c.1394A>T (p.Ter465Leu) c.779A>T (p.Ter260Leu) c.1250A>T (p.Ter417Leu) c.1517A>T (p.Ter506Leu) c.1475A>T (p.Ter492Leu) c.1373A>T (p.Ter458Leu) c.1337A>T (p.Ter446Leu) c.1178A>T (p.Ter393Leu) | |
1 | g.173903890T>C | CA421821132 | SERPINC1 | c.1394A>G (p.Ter465=) c.779A>G (p.Ter260=) c.1250A>G (p.Ter417=) c.1517A>G (p.Ter506=) c.1475A>G (p.Ter492=) c.1373A>G (p.Ter458=) c.1337A>G (p.Ter446=) c.1178A>G (p.Ter393=) | |
1 | g.173903890T>G | CA343771979 | SERPINC1 | c.1394A>C (p.Ter465Ser) c.779A>C (p.Ter260Ser) c.1250A>C (p.Ter417Ser) c.1517A>C (p.Ter506Ser) c.1475A>C (p.Ter492Ser) c.1373A>C (p.Ter458Ser) c.1337A>C (p.Ter446Ser) c.1178A>C (p.Ter393Ser) | |
1 | g.173903891A= | CA1207934358 | SERPINC1 | c.1393T= (p.Ter465=) c.778T= (p.Ter260=) c.1249T= (p.Ter417=) c.1516T= (p.Ter506=) c.1474T= (p.Ter492=) c.1372T= (p.Ter458=) c.1336T= (p.Ter446=) c.1177T= (p.Ter393=) | |
1 | g.173903891A>C | CA343771983 | SERPINC1 | c.1393T>G (p.Ter465Glu) c.778T>G (p.Ter260Glu) c.1249T>G (p.Ter417Glu) c.1516T>G (p.Ter506Glu) c.1474T>G (p.Ter492Glu) c.1372T>G (p.Ter458Glu) c.1336T>G (p.Ter446Glu) c.1177T>G (p.Ter393Glu) | |
1 | g.173903891A>G | CA343771985 | SERPINC1 | c.1393T>C (p.Ter465Gln) c.778T>C (p.Ter260Gln) c.1249T>C (p.Ter417Gln) c.1516T>C (p.Ter506Gln) c.1474T>C (p.Ter492Gln) c.1372T>C (p.Ter458Gln) c.1336T>C (p.Ter446Gln) c.1177T>C (p.Ter393Gln) | ClinVar dbSNP |
1 | g.173903891A>T | CA343771987 | SERPINC1 | c.1393T>A (p.Ter465Lys) c.778T>A (p.Ter260Lys) c.1249T>A (p.Ter417Lys) c.1516T>A (p.Ter506Lys) c.1474T>A (p.Ter492Lys) c.1372T>A (p.Ter458Lys) c.1336T>A (p.Ter446Lys) c.1177T>A (p.Ter393Lys) | |
1 | g.173903892C>A | CA343771989 | SERPINC1 | c.1392G>T (p.Lys464Asn) c.777G>T (p.Lys259Asn) c.1248G>T (p.Lys416Asn) c.1515G>T (p.Lys505Asn) c.1473G>T (p.Lys491Asn) c.1371G>T (p.Lys457Asn) c.1335G>T (p.Lys445Asn) c.1176G>T (p.Lys392Asn) | |
1 | g.173903892C>G | CA343771991 | SERPINC1 | c.1392G>C (p.Lys464Asn) c.777G>C (p.Lys259Asn) c.1248G>C (p.Lys416Asn) c.1515G>C (p.Lys505Asn) c.1473G>C (p.Lys491Asn) c.1371G>C (p.Lys457Asn) c.1335G>C (p.Lys445Asn) c.1176G>C (p.Lys392Asn) | |
1 | g.173903892C>T | CA421821142 | SERPINC1 | c.1392G>A (p.Lys464=) c.777G>A (p.Lys259=) c.1248G>A (p.Lys416=) c.1515G>A (p.Lys505=) c.1473G>A (p.Lys491=) c.1371G>A (p.Lys457=) c.1335G>A (p.Lys445=) c.1176G>A (p.Lys392=) | |
1 | g.173903892_173903897del | CA2572092707 | SERPINC1 | c.1387_1392del (p.Val463_Lys464del) c.772_777del (p.Val258_Lys259del) c.1243_1248del (p.Val415_Lys416del) c.1510_1515del (p.Val504_Lys505del) c.1468_1473del (p.Val490_Lys491del) c.1366_1371del (p.Val456_Lys457del) c.1330_1335del (p.Val444_Lys445del) c.1171_1176del (p.Val391_Lys392del) | |
1 | g.173903893T>A | CA343771993 | SERPINC1 | c.1391A>T (p.Lys464Met) c.776A>T (p.Lys259Met) c.1247A>T (p.Lys416Met) c.1514A>T (p.Lys505Met) c.1472A>T (p.Lys491Met) c.1370A>T (p.Lys457Met) c.1334A>T (p.Lys445Met) c.1175A>T (p.Lys392Met) | |
1 | g.173903893T>C | CA343771994 | SERPINC1 | c.1391A>G (p.Lys464Arg) c.776A>G (p.Lys259Arg) c.1247A>G (p.Lys416Arg) c.1514A>G (p.Lys505Arg) c.1472A>G (p.Lys491Arg) c.1370A>G (p.Lys457Arg) c.1334A>G (p.Lys445Arg) c.1175A>G (p.Lys392Arg) | |
1 | g.173903893T>G | CA343771995 | SERPINC1 | c.1391A>C (p.Lys464Thr) c.776A>C (p.Lys259Thr) c.1247A>C (p.Lys416Thr) c.1514A>C (p.Lys505Thr) c.1472A>C (p.Lys491Thr) c.1370A>C (p.Lys457Thr) c.1334A>C (p.Lys445Thr) c.1175A>C (p.Lys392Thr) | |
1 | g.173903894dup | CA2586967696 | SERPINC1 | c.1391dup (p.Ter465ValextTer19) c.776dup (p.Ter260ValextTer19) c.1247dup (p.Ter417ValextTer19) c.1514dup (p.Ter506ValextTer19) c.1472dup (p.Ter492ValextTer19) c.1370dup (p.Ter458ValextTer19) c.1334dup (p.Ter446ValextTer19) c.1175dup (p.Ter393ValextTer19) | |
1 | g.173903893_173903894dup | CA2586967695 | SERPINC1 | c.1390_1391dup (p.Ter465SerextTer16) c.775_776dup (p.Ter260SerextTer16) c.1246_1247dup (p.Ter417SerextTer16) c.1513_1514dup (p.Ter506SerextTer16) c.1471_1472dup (p.Ter492SerextTer16) c.1369_1370dup (p.Ter458SerextTer16) c.1333_1334dup (p.Ter446SerextTer16) c.1174_1175dup (p.Ter393SerextTer16) |