Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.1754289G>ACA114104SERPINF2c.1231G>A (p.Val411Met)
c.1039G>A (p.Val347Met)
c.1336G>A (p.Val446Met)
c.1243G>A (p.Val415Met)
c.1279G>A (p.Val427Met)
c.1150G>A (p.Val384Met)
ClinVar dbSNP
17g.1754289G>CCA397575174SERPINF2c.1231G>C (p.Val411Leu)
c.1039G>C (p.Val347Leu)
c.1336G>C (p.Val446Leu)
c.1243G>C (p.Val415Leu)
c.1279G>C (p.Val427Leu)
c.1150G>C (p.Val384Leu)
17g.1754289G=CA2243019023SERPINF2c.1231G= (p.Val411=)
c.1039G= (p.Val347=)
c.1336G= (p.Val446=)
c.1243G= (p.Val415=)
c.1279G= (p.Val427=)
c.1150G= (p.Val384=)
17g.1754289G>TCA397575180SERPINF2c.1231G>T (p.Val411Leu)
c.1039G>T (p.Val347Leu)
c.1336G>T (p.Val446Leu)
c.1243G>T (p.Val415Leu)
c.1279G>T (p.Val427Leu)
c.1150G>T (p.Val384Leu)
17g.1754290T>ACA397575185SERPINF2c.1232T>A (p.Val411Glu)
c.1040T>A (p.Val347Glu)
c.1337T>A (p.Val446Glu)
c.1244T>A (p.Val415Glu)
c.1280T>A (p.Val427Glu)
c.1151T>A (p.Val384Glu)
17g.1754290T>CCA397575186SERPINF2c.1232T>C (p.Val411Ala)
c.1040T>C (p.Val347Ala)
c.1337T>C (p.Val446Ala)
c.1244T>C (p.Val415Ala)
c.1280T>C (p.Val427Ala)
c.1151T>C (p.Val384Ala)
17g.1754290T>GCA397575187SERPINF2c.1232T>G (p.Val411Gly)
c.1040T>G (p.Val347Gly)
c.1337T>G (p.Val446Gly)
c.1244T>G (p.Val415Gly)
c.1280T>G (p.Val427Gly)
c.1151T>G (p.Val384Gly)
17g.1754291G>ACA497389406SERPINF2c.1233G>A (p.Val411=)
c.1041G>A (p.Val347=)
c.1338G>A (p.Val446=)
c.1245G>A (p.Val415=)
c.1281G>A (p.Val427=)
c.1152G>A (p.Val384=)
COSMIC
17g.1754291G>CCA497389408SERPINF2c.1233G>C (p.Val411=)
c.1041G>C (p.Val347=)
c.1338G>C (p.Val446=)
c.1245G>C (p.Val415=)
c.1281G>C (p.Val427=)
c.1152G>C (p.Val384=)
17g.1754291G>TCA497389411SERPINF2c.1233G>T (p.Val411=)
c.1041G>T (p.Val347=)
c.1338G>T (p.Val446=)
c.1245G>T (p.Val415=)
c.1281G>T (p.Val427=)
c.1152G>T (p.Val384=)
17g.1754292A>CCA397575199SERPINF2c.1234A>C (p.Asn412His)
c.1042A>C (p.Asn348His)
c.1339A>C (p.Asn447His)
c.1246A>C (p.Asn416His)
c.1282A>C (p.Asn428His)
c.1153A>C (p.Asn385His)
17g.1754292A>GCA397575196SERPINF2c.1234A>G (p.Asn412Asp)
c.1042A>G (p.Asn348Asp)
c.1339A>G (p.Asn447Asp)
c.1246A>G (p.Asn416Asp)
c.1282A>G (p.Asn428Asp)
c.1153A>G (p.Asn385Asp)
17g.1754292A>TCA397575191SERPINF2c.1234A>T (p.Asn412Tyr)
c.1042A>T (p.Asn348Tyr)
c.1339A>T (p.Asn447Tyr)
c.1246A>T (p.Asn416Tyr)
c.1282A>T (p.Asn428Tyr)
c.1153A>T (p.Asn385Tyr)
17g.1754293A>CCA397575204SERPINF2c.1235A>C (p.Asn412Thr)
c.1043A>C (p.Asn348Thr)
c.1340A>C (p.Asn447Thr)
c.1247A>C (p.Asn416Thr)
c.1283A>C (p.Asn428Thr)
c.1154A>C (p.Asn385Thr)
dbSNP
17g.1754293A>GCA397575206SERPINF2c.1235A>G (p.Asn412Ser)
c.1043A>G (p.Asn348Ser)
c.1340A>G (p.Asn447Ser)
c.1247A>G (p.Asn416Ser)
c.1283A>G (p.Asn428Ser)
c.1154A>G (p.Asn385Ser)
17g.1754293A>TCA397575207SERPINF2c.1235A>T (p.Asn412Ile)
c.1043A>T (p.Asn348Ile)
c.1340A>T (p.Asn447Ile)
c.1247A>T (p.Asn416Ile)
c.1283A>T (p.Asn428Ile)
c.1154A>T (p.Asn385Ile)
17g.1754294C>ACA397575211SERPINF2c.1236C>A (p.Asn412Lys)
c.1044C>A (p.Asn348Lys)
c.1341C>A (p.Asn447Lys)
c.1248C>A (p.Asn416Lys)
c.1284C>A (p.Asn428Lys)
c.1155C>A (p.Asn385Lys)
17g.1754294C>GCA397575212SERPINF2c.1236C>G (p.Asn412Lys)
c.1044C>G (p.Asn348Lys)
c.1341C>G (p.Asn447Lys)
c.1248C>G (p.Asn416Lys)
c.1284C>G (p.Asn428Lys)
c.1155C>G (p.Asn385Lys)
17g.1754294C>TCA497389414SERPINF2c.1236C>T (p.Asn412=)
c.1044C>T (p.Asn348=)
c.1341C>T (p.Asn447=)
c.1248C>T (p.Asn416=)
c.1284C>T (p.Asn428=)
c.1155C>T (p.Asn385=)
17g.1754295C>ACA397575216SERPINF2c.1237C>A (p.Arg413Ser)
c.1045C>A (p.Arg349Ser)
c.1342C>A (p.Arg448Ser)
c.1249C>A (p.Arg417Ser)
c.1285C>A (p.Arg429Ser)
c.1156C>A (p.Arg386Ser)
gnomAD v4
17g.1754295C=CA2243019030SERPINF2c.1237C= (p.Arg413=)
c.1045C= (p.Arg349=)
c.1342C= (p.Arg448=)
c.1249C= (p.Arg417=)
c.1285C= (p.Arg429=)
c.1156C= (p.Arg386=)
17g.1754295C>GCA397575219SERPINF2c.1237C>G (p.Arg413Gly)
c.1045C>G (p.Arg349Gly)
c.1342C>G (p.Arg448Gly)
c.1249C>G (p.Arg417Gly)
c.1285C>G (p.Arg429Gly)
c.1156C>G (p.Arg386Gly)
17g.1754295C>TCA397575220SERPINF2c.1237C>T (p.Arg413Cys)
c.1045C>T (p.Arg349Cys)
c.1342C>T (p.Arg448Cys)
c.1249C>T (p.Arg417Cys)
c.1285C>T (p.Arg429Cys)
c.1156C>T (p.Arg386Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1754296G>ACA397575225SERPINF2c.1238G>A (p.Arg413His)
c.1046G>A (p.Arg349His)
c.1343G>A (p.Arg448His)
c.1250G>A (p.Arg417His)
c.1286G>A (p.Arg429His)
c.1157G>A (p.Arg386His)
dbSNP gnomAD v3 gnomAD v4
17g.1754296G>CCA397575229SERPINF2c.1238G>C (p.Arg413Pro)
c.1046G>C (p.Arg349Pro)
c.1343G>C (p.Arg448Pro)
c.1250G>C (p.Arg417Pro)
c.1286G>C (p.Arg429Pro)
c.1157G>C (p.Arg386Pro)
17g.1754296G=CA2243019034SERPINF2c.1238G= (p.Arg413=)
c.1046G= (p.Arg349=)
c.1343G= (p.Arg448=)
c.1250G= (p.Arg417=)
c.1286G= (p.Arg429=)
c.1157G= (p.Arg386=)
17g.1754296G>TCA397575231SERPINF2c.1238G>T (p.Arg413Leu)
c.1046G>T (p.Arg349Leu)
c.1343G>T (p.Arg448Leu)
c.1250G>T (p.Arg417Leu)
c.1286G>T (p.Arg429Leu)
c.1157G>T (p.Arg386Leu)
gnomAD v4
17g.1754297C>ACA497389418SERPINF2c.1239C>A (p.Arg413=)
c.1047C>A (p.Arg349=)
c.1344C>A (p.Arg448=)
c.1251C>A (p.Arg417=)
c.1287C>A (p.Arg429=)
c.1158C>A (p.Arg386=)
17g.1754297C=CA2243019037SERPINF2c.1239C= (p.Arg413=)
c.1047C= (p.Arg349=)
c.1344C= (p.Arg448=)
c.1251C= (p.Arg417=)
c.1287C= (p.Arg429=)
c.1158C= (p.Arg386=)
17g.1754297C>GCA497389419SERPINF2c.1239C>G (p.Arg413=)
c.1047C>G (p.Arg349=)
c.1344C>G (p.Arg448=)
c.1251C>G (p.Arg417=)
c.1287C>G (p.Arg429=)
c.1158C>G (p.Arg386=)
17g.1754297C>TCA8274420SERPINF2c.1239C>T (p.Arg413=)
c.1047C>T (p.Arg349=)
c.1344C>T (p.Arg448=)
c.1251C>T (p.Arg417=)
c.1287C>T (p.Arg429=)
c.1158C>T (p.Arg386=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1754298C>ACA397575243SERPINF2c.1240C>A (p.Pro414Thr)
c.1048C>A (p.Pro350Thr)
c.1345C>A (p.Pro449Thr)
c.1252C>A (p.Pro418Thr)
c.1288C>A (p.Pro430Thr)
c.1159C>A (p.Pro387Thr)
17g.1754298C>GCA397575240SERPINF2c.1240C>G (p.Pro414Ala)
c.1048C>G (p.Pro350Ala)
c.1345C>G (p.Pro449Ala)
c.1252C>G (p.Pro418Ala)
c.1288C>G (p.Pro430Ala)
c.1159C>G (p.Pro387Ala)
17g.1754298C>TCA397575238SERPINF2c.1240C>T (p.Pro414Ser)
c.1048C>T (p.Pro350Ser)
c.1345C>T (p.Pro449Ser)
c.1252C>T (p.Pro418Ser)
c.1288C>T (p.Pro430Ser)
c.1159C>T (p.Pro387Ser)
gnomAD v4 COSMIC
17g.1754299C>ACA397575245SERPINF2c.1241C>A (p.Pro414His)
c.1049C>A (p.Pro350His)
c.1346C>A (p.Pro449His)
c.1253C>A (p.Pro418His)
c.1289C>A (p.Pro430His)
c.1160C>A (p.Pro387His)
17g.1754299C>GCA397575266SERPINF2c.1241C>G (p.Pro414Arg)
c.1049C>G (p.Pro350Arg)
c.1346C>G (p.Pro449Arg)
c.1253C>G (p.Pro418Arg)
c.1289C>G (p.Pro430Arg)
c.1160C>G (p.Pro387Arg)
17g.1754299C>TCA397575261SERPINF2c.1241C>T (p.Pro414Leu)
c.1049C>T (p.Pro350Leu)
c.1346C>T (p.Pro449Leu)
c.1253C>T (p.Pro418Leu)
c.1289C>T (p.Pro430Leu)
c.1160C>T (p.Pro387Leu)
17g.1754299_1754300insACGCGGCA2537876855SERPINF2c.1241_1242insACGCGG (p.Pro414_Phe415insArgGly)
c.1049_1050insACGCGG (p.Pro350_Phe351insArgGly)
c.1346_1347insACGCGG (p.Pro449_Phe450insArgGly)
c.1253_1254insACGCGG (p.Pro418_Phe419insArgGly)
c.1289_1290insACGCGG (p.Pro430_Phe431insArgGly)
c.1160_1161insACGCGG (p.Pro387_Phe388insArgGly)
17g.1754300C>ACA497389425SERPINF2c.1242C>A (p.Pro414=)
c.1050C>A (p.Pro350=)
c.1347C>A (p.Pro449=)
c.1254C>A (p.Pro418=)
c.1290C>A (p.Pro430=)
c.1161C>A (p.Pro387=)
17g.1754300C>GCA497389424SERPINF2c.1242C>G (p.Pro414=)
c.1050C>G (p.Pro350=)
c.1347C>G (p.Pro449=)
c.1254C>G (p.Pro418=)
c.1290C>G (p.Pro430=)
c.1161C>G (p.Pro387=)
17g.1754300C>TCA497389423SERPINF2c.1242C>T (p.Pro414=)
c.1050C>T (p.Pro350=)
c.1347C>T (p.Pro449=)
c.1254C>T (p.Pro418=)
c.1290C>T (p.Pro430=)
c.1161C>T (p.Pro387=)
17g.1754301T>ACA397575271SERPINF2c.1243T>A (p.Phe415Ile)
c.1051T>A (p.Phe351Ile)
c.1348T>A (p.Phe450Ile)
c.1255T>A (p.Phe419Ile)
c.1291T>A (p.Phe431Ile)
c.1162T>A (p.Phe388Ile)
17g.1754301T>CCA397575276SERPINF2c.1243T>C (p.Phe415Leu)
c.1051T>C (p.Phe351Leu)
c.1348T>C (p.Phe450Leu)
c.1255T>C (p.Phe419Leu)
c.1291T>C (p.Phe431Leu)
c.1162T>C (p.Phe388Leu)
gnomAD v4
17g.1754301T>GCA397575278SERPINF2c.1243T>G (p.Phe415Val)
c.1051T>G (p.Phe351Val)
c.1348T>G (p.Phe450Val)
c.1255T>G (p.Phe419Val)
c.1291T>G (p.Phe431Val)
c.1162T>G (p.Phe388Val)
17g.1754302T>ACA397575286SERPINF2c.1244T>A (p.Phe415Tyr)
c.1052T>A (p.Phe351Tyr)
c.1349T>A (p.Phe450Tyr)
c.1256T>A (p.Phe419Tyr)
c.1292T>A (p.Phe431Tyr)
c.1163T>A (p.Phe388Tyr)
17g.1754302T>CCA397575292SERPINF2c.1244T>C (p.Phe415Ser)
c.1052T>C (p.Phe351Ser)
c.1349T>C (p.Phe450Ser)
c.1256T>C (p.Phe419Ser)
c.1292T>C (p.Phe431Ser)
c.1163T>C (p.Phe388Ser)
17g.1754302T>GCA397575296SERPINF2c.1244T>G (p.Phe415Cys)
c.1052T>G (p.Phe351Cys)
c.1349T>G (p.Phe450Cys)
c.1256T>G (p.Phe419Cys)
c.1292T>G (p.Phe431Cys)
c.1163T>G (p.Phe388Cys)
17g.1754303C>ACA397575300SERPINF2c.1245C>A (p.Phe415Leu)
c.1053C>A (p.Phe351Leu)
c.1350C>A (p.Phe450Leu)
c.1257C>A (p.Phe419Leu)
c.1293C>A (p.Phe431Leu)
c.1164C>A (p.Phe388Leu)
17g.1754303C>GCA397575303SERPINF2c.1245C>G (p.Phe415Leu)
c.1053C>G (p.Phe351Leu)
c.1350C>G (p.Phe450Leu)
c.1257C>G (p.Phe419Leu)
c.1293C>G (p.Phe431Leu)
c.1164C>G (p.Phe388Leu)
17g.1754303C>TCA497389427SERPINF2c.1245C>T (p.Phe415=)
c.1053C>T (p.Phe351=)
c.1350C>T (p.Phe450=)
c.1257C>T (p.Phe419=)
c.1293C>T (p.Phe431=)
c.1164C>T (p.Phe388=)
gnomAD v4
17g.1754304C>ACA397575306SERPINF2c.1246C>A (p.Leu416Ile)
c.1054C>A (p.Leu352Ile)
c.1351C>A (p.Leu451Ile)
c.1258C>A (p.Leu420Ile)
c.1294C>A (p.Leu432Ile)
c.1165C>A (p.Leu389Ile)
gnomAD v4
17g.1754304C>GCA397575310SERPINF2c.1246C>G (p.Leu416Val)
c.1054C>G (p.Leu352Val)
c.1351C>G (p.Leu451Val)
c.1258C>G (p.Leu420Val)
c.1294C>G (p.Leu432Val)
c.1165C>G (p.Leu389Val)
17g.1754304C>TCA397575311SERPINF2c.1246C>T (p.Leu416Phe)
c.1054C>T (p.Leu352Phe)
c.1351C>T (p.Leu451Phe)
c.1258C>T (p.Leu420Phe)
c.1294C>T (p.Leu432Phe)
c.1165C>T (p.Leu389Phe)
COSMIC
17g.1754304_1754305insACA2556182091SERPINF2c.1246_1247insA (p.Leu416HisfsTer?)
c.1054_1055insA (p.Leu352HisfsTer?)
c.1351_1352insA (p.Leu451HisfsTer?)
c.1258_1259insA (p.Leu420HisfsTer?)
c.1294_1295insA (p.Leu432HisfsTer?)
c.1165_1166insA (p.Leu389HisfsTer?)
17g.1754305T>ACA397575319SERPINF2c.1247T>A (p.Leu416His)
c.1055T>A (p.Leu352His)
c.1352T>A (p.Leu451His)
c.1259T>A (p.Leu420His)
c.1295T>A (p.Leu432His)
c.1166T>A (p.Leu389His)
17g.1754305T>CCA397575314SERPINF2c.1247T>C (p.Leu416Pro)
c.1055T>C (p.Leu352Pro)
c.1352T>C (p.Leu451Pro)
c.1259T>C (p.Leu420Pro)
c.1295T>C (p.Leu432Pro)
c.1166T>C (p.Leu389Pro)
17g.1754305T>GCA397575312SERPINF2c.1247T>G (p.Leu416Arg)
c.1055T>G (p.Leu352Arg)
c.1352T>G (p.Leu451Arg)
c.1259T>G (p.Leu420Arg)
c.1295T>G (p.Leu432Arg)
c.1166T>G (p.Leu389Arg)
17g.1754306C>ACA497389432SERPINF2c.1248C>A (p.Leu416=)
c.1056C>A (p.Leu352=)
c.1353C>A (p.Leu451=)
c.1260C>A (p.Leu420=)
c.1296C>A (p.Leu432=)
c.1167C>A (p.Leu389=)
17g.1754306C=CA2243019039SERPINF2c.1248C= (p.Leu416=)
c.1056C= (p.Leu352=)
c.1353C= (p.Leu451=)
c.1260C= (p.Leu420=)
c.1296C= (p.Leu432=)
c.1167C= (p.Leu389=)
17g.1754306C>GCA497389433SERPINF2c.1248C>G (p.Leu416=)
c.1056C>G (p.Leu352=)
c.1353C>G (p.Leu451=)
c.1260C>G (p.Leu420=)
c.1296C>G (p.Leu432=)
c.1167C>G (p.Leu389=)
17g.1754306C>TCA8274421SERPINF2c.1248C>T (p.Leu416=)
c.1056C>T (p.Leu352=)
c.1353C>T (p.Leu451=)
c.1260C>T (p.Leu420=)
c.1296C>T (p.Leu432=)
c.1167C>T (p.Leu389=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.1754306_1754307insCCCA2569160801SERPINF2c.1248_1249insCC (p.Phe417ProfsTer18)
c.1056_1057insCC (p.Phe353ProfsTer18)
c.1353_1354insCC (p.Phe452ProfsTer18)
c.1260_1261insCC (p.Phe421ProfsTer18)
c.1296_1297insCC (p.Phe433ProfsTer18)
c.1167_1168insCC (p.Phe390ProfsTer18)
17g.1754307T>ACA397575328SERPINF2c.1249T>A (p.Phe417Ile)
c.1057T>A (p.Phe353Ile)
c.1354T>A (p.Phe452Ile)
c.1261T>A (p.Phe421Ile)
c.1297T>A (p.Phe433Ile)
c.1168T>A (p.Phe390Ile)
17g.1754307T>CCA397575331SERPINF2c.1249T>C (p.Phe417Leu)
c.1057T>C (p.Phe353Leu)
c.1354T>C (p.Phe452Leu)
c.1261T>C (p.Phe421Leu)
c.1297T>C (p.Phe433Leu)
c.1168T>C (p.Phe390Leu)
17g.1754307T>GCA397575333SERPINF2c.1249T>G (p.Phe417Val)
c.1057T>G (p.Phe353Val)
c.1354T>G (p.Phe452Val)
c.1261T>G (p.Phe421Val)
c.1297T>G (p.Phe433Val)
c.1168T>G (p.Phe390Val)
17g.1754307_1754308insCACACCGGGCCAGGCGCCA2558359242SERPINF2c.1249_1250insCACACCGGGCCAGGCGC (p.Phe417SerfsTer23)
c.1057_1058insCACACCGGGCCAGGCGC (p.Phe353SerfsTer23)
c.1354_1355insCACACCGGGCCAGGCGC (p.Phe452SerfsTer23)
c.1261_1262insCACACCGGGCCAGGCGC (p.Phe421SerfsTer23)
c.1297_1298insCACACCGGGCCAGGCGC (p.Phe433SerfsTer23)
c.1168_1169insCACACCGGGCCAGGCGC (p.Phe390SerfsTer23)
17g.1754308T>ACA397575338SERPINF2c.1250T>A (p.Phe417Tyr)
c.1058T>A (p.Phe353Tyr)
c.1355T>A (p.Phe452Tyr)
c.1262T>A (p.Phe421Tyr)
c.1298T>A (p.Phe433Tyr)
c.1169T>A (p.Phe390Tyr)
17g.1754308T>CCA397575341SERPINF2c.1250T>C (p.Phe417Ser)
c.1058T>C (p.Phe353Ser)
c.1355T>C (p.Phe452Ser)
c.1262T>C (p.Phe421Ser)
c.1298T>C (p.Phe433Ser)
c.1169T>C (p.Phe390Ser)
17g.1754308T>GCA397575344SERPINF2c.1250T>G (p.Phe417Cys)
c.1058T>G (p.Phe353Cys)
c.1355T>G (p.Phe452Cys)
c.1262T>G (p.Phe421Cys)
c.1298T>G (p.Phe433Cys)
c.1169T>G (p.Phe390Cys)
17g.1754309C>ACA397575346SERPINF2c.1251C>A (p.Phe417Leu)
c.1059C>A (p.Phe353Leu)
c.1356C>A (p.Phe452Leu)
c.1263C>A (p.Phe421Leu)
c.1299C>A (p.Phe433Leu)
c.1170C>A (p.Phe390Leu)
17g.1754309C>GCA397575349SERPINF2c.1251C>G (p.Phe417Leu)
c.1059C>G (p.Phe353Leu)
c.1356C>G (p.Phe452Leu)
c.1263C>G (p.Phe421Leu)
c.1299C>G (p.Phe433Leu)
c.1170C>G (p.Phe390Leu)
17g.1754309C>TCA497389436SERPINF2c.1251C>T (p.Phe417=)
c.1059C>T (p.Phe353=)
c.1356C>T (p.Phe452=)
c.1263C>T (p.Phe421=)
c.1299C>T (p.Phe433=)
c.1170C>T (p.Phe390=)
17g.1754310T>ACA397575355SERPINF2c.1252T>A (p.Phe418Ile)
c.1060T>A (p.Phe354Ile)
c.1357T>A (p.Phe453Ile)
c.1264T>A (p.Phe422Ile)
c.1300T>A (p.Phe434Ile)
c.1171T>A (p.Phe391Ile)
17g.1754310T>CCA8274422SERPINF2c.1252T>C (p.Phe418Leu)
c.1060T>C (p.Phe354Leu)
c.1357T>C (p.Phe453Leu)
c.1264T>C (p.Phe422Leu)
c.1300T>C (p.Phe434Leu)
c.1171T>C (p.Phe391Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.1754310T>GCA397575360SERPINF2c.1252T>G (p.Phe418Val)
c.1060T>G (p.Phe354Val)
c.1357T>G (p.Phe453Val)
c.1264T>G (p.Phe422Val)
c.1300T>G (p.Phe434Val)
c.1171T>G (p.Phe391Val)
17g.1754310T=CA2243019042SERPINF2c.1252T= (p.Phe418=)
c.1060T= (p.Phe354=)
c.1357T= (p.Phe453=)
c.1264T= (p.Phe422=)
c.1300T= (p.Phe434=)
c.1171T= (p.Phe391=)
17g.1754311T>ACA397575373SERPINF2c.1253T>A (p.Phe418Tyr)
c.1061T>A (p.Phe354Tyr)
c.1358T>A (p.Phe453Tyr)
c.1265T>A (p.Phe422Tyr)
c.1301T>A (p.Phe434Tyr)
c.1172T>A (p.Phe391Tyr)
17g.1754311T>CCA397575368SERPINF2c.1253T>C (p.Phe418Ser)
c.1061T>C (p.Phe354Ser)
c.1358T>C (p.Phe453Ser)
c.1265T>C (p.Phe422Ser)
c.1301T>C (p.Phe434Ser)
c.1172T>C (p.Phe391Ser)
17g.1754311T>GCA397575365SERPINF2c.1253T>G (p.Phe418Cys)
c.1061T>G (p.Phe354Cys)
c.1358T>G (p.Phe453Cys)
c.1265T>G (p.Phe422Cys)
c.1301T>G (p.Phe434Cys)
c.1172T>G (p.Phe391Cys)
17g.1754312C>ACA397575377SERPINF2c.1254C>A (p.Phe418Leu)
c.1062C>A (p.Phe354Leu)
c.1359C>A (p.Phe453Leu)
c.1266C>A (p.Phe422Leu)
c.1302C>A (p.Phe434Leu)
c.1173C>A (p.Phe391Leu)
17g.1754312C>GCA397575379SERPINF2c.1254C>G (p.Phe418Leu)
c.1062C>G (p.Phe354Leu)
c.1359C>G (p.Phe453Leu)
c.1266C>G (p.Phe422Leu)
c.1302C>G (p.Phe434Leu)
c.1173C>G (p.Phe391Leu)
17g.1754312C>TCA497389440SERPINF2c.1254C>T (p.Phe418=)
c.1062C>T (p.Phe354=)
c.1359C>T (p.Phe453=)
c.1266C>T (p.Phe422=)
c.1302C>T (p.Phe434=)
c.1173C>T (p.Phe391=)
gnomAD v4
17g.1754312_1754313insCAGGTCACGCACAGCAGCAAGCCA2548317943SERPINF2c.1254_1255insCAGGTCACGCACAGCAGCAAGC (p.Ile419GlnfsTer?)
c.1062_1063insCAGGTCACGCACAGCAGCAAGC (p.Ile355GlnfsTer?)
c.1359_1360insCAGGTCACGCACAGCAGCAAGC (p.Ile454GlnfsTer?)
c.1266_1267insCAGGTCACGCACAGCAGCAAGC (p.Ile423GlnfsTer?)
c.1302_1303insCAGGTCACGCACAGCAGCAAGC (p.Ile435GlnfsTer?)
c.1173_1174insCAGGTCACGCACAGCAGCAAGC (p.Ile392GlnfsTer?)
17g.1754313A>CCA397575388SERPINF2c.1255A>C (p.Ile419Leu)
c.1063A>C (p.Ile355Leu)
c.1360A>C (p.Ile454Leu)
c.1267A>C (p.Ile423Leu)
c.1303A>C (p.Ile435Leu)
c.1174A>C (p.Ile392Leu)
17g.1754313A>GCA397575391SERPINF2c.1255A>G (p.Ile419Val)
c.1063A>G (p.Ile355Val)
c.1360A>G (p.Ile454Val)
c.1267A>G (p.Ile423Val)
c.1303A>G (p.Ile435Val)
c.1174A>G (p.Ile392Val)
17g.1754313A>TCA397575394SERPINF2c.1255A>T (p.Ile419Phe)
c.1063A>T (p.Ile355Phe)
c.1360A>T (p.Ile454Phe)
c.1267A>T (p.Ile423Phe)
c.1303A>T (p.Ile435Phe)
c.1174A>T (p.Ile392Phe)
17g.1754314T>ACA397575399SERPINF2c.1256T>A (p.Ile419Asn)
c.1064T>A (p.Ile355Asn)
c.1361T>A (p.Ile454Asn)
c.1268T>A (p.Ile423Asn)
c.1304T>A (p.Ile435Asn)
c.1175T>A (p.Ile392Asn)
17g.1754314T>CCA397575402SERPINF2c.1256T>C (p.Ile419Thr)
c.1064T>C (p.Ile355Thr)
c.1361T>C (p.Ile454Thr)
c.1268T>C (p.Ile423Thr)
c.1304T>C (p.Ile435Thr)
c.1175T>C (p.Ile392Thr)
dbSNP gnomAD v3 gnomAD v4
17g.1754314T>GCA397575404SERPINF2c.1256T>G (p.Ile419Ser)
c.1064T>G (p.Ile355Ser)
c.1361T>G (p.Ile454Ser)
c.1268T>G (p.Ile423Ser)
c.1304T>G (p.Ile435Ser)
c.1175T>G (p.Ile392Ser)
17g.1754314T=CA2243019045SERPINF2c.1256T= (p.Ile419=)
c.1064T= (p.Ile355=)
c.1361T= (p.Ile454=)
c.1268T= (p.Ile423=)
c.1304T= (p.Ile435=)
c.1175T= (p.Ile392=)
17g.1754315C>ACA8274423SERPINF2c.1257C>A (p.Ile419=)
c.1065C>A (p.Ile355=)
c.1362C>A (p.Ile454=)
c.1269C>A (p.Ile423=)
c.1305C>A (p.Ile435=)
c.1176C>A (p.Ile392=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.1754315C=CA2243019049SERPINF2c.1257C= (p.Ile419=)
c.1065C= (p.Ile355=)
c.1362C= (p.Ile454=)
c.1269C= (p.Ile423=)
c.1305C= (p.Ile435=)
c.1176C= (p.Ile392=)
17g.1754315C>GCA397575411SERPINF2c.1257C>G (p.Ile419Met)
c.1065C>G (p.Ile355Met)
c.1362C>G (p.Ile454Met)
c.1269C>G (p.Ile423Met)
c.1305C>G (p.Ile435Met)
c.1176C>G (p.Ile392Met)
17g.1754315C>TCA497389445SERPINF2c.1257C>T (p.Ile419=)
c.1065C>T (p.Ile355=)
c.1362C>T (p.Ile454=)
c.1269C>T (p.Ile423=)
c.1305C>T (p.Ile435=)
c.1176C>T (p.Ile392=)
gnomAD v4
17g.1754315_1754316insGGGCGCGACA2533891695SERPINF2c.1257_1258insGGGCGCGA (p.Phe420GlyfsTer17)
c.1065_1066insGGGCGCGA (p.Phe356GlyfsTer17)
c.1362_1363insGGGCGCGA (p.Phe455GlyfsTer17)
c.1269_1270insGGGCGCGA (p.Phe424GlyfsTer17)
c.1305_1306insGGGCGCGA (p.Phe436GlyfsTer17)
c.1176_1177insGGGCGCGA (p.Phe393GlyfsTer17)
17g.1754316T>ACA397575415SERPINF2c.1258T>A (p.Phe420Ile)
c.1066T>A (p.Phe356Ile)
c.1363T>A (p.Phe455Ile)
c.1270T>A (p.Phe424Ile)
c.1306T>A (p.Phe436Ile)
c.1177T>A (p.Phe393Ile)
17g.1754316T>CCA397575418SERPINF2c.1258T>C (p.Phe420Leu)
c.1066T>C (p.Phe356Leu)
c.1363T>C (p.Phe455Leu)
c.1270T>C (p.Phe424Leu)
c.1306T>C (p.Phe436Leu)
c.1177T>C (p.Phe393Leu)
17g.1754316T>GCA397575419SERPINF2c.1258T>G (p.Phe420Val)
c.1066T>G (p.Phe356Val)
c.1363T>G (p.Phe455Val)
c.1270T>G (p.Phe424Val)
c.1306T>G (p.Phe436Val)
c.1177T>G (p.Phe393Val)
17g.1754316_1754317insGCTGCGATGACCAGTGCAGCAACCCA2511739670SERPINF2c.1258_1259insGCTGCGATGACCAGTGCAGCAACC (p.Phe420delinsCysCysAspAspGlnCysSerAsnLeu)
c.1066_1067insGCTGCGATGACCAGTGCAGCAACC (p.Phe356delinsCysCysAspAspGlnCysSerAsnLeu)
c.1363_1364insGCTGCGATGACCAGTGCAGCAACC (p.Phe455delinsCysCysAspAspGlnCysSerAsnLeu)
c.1270_1271insGCTGCGATGACCAGTGCAGCAACC (p.Phe424delinsCysCysAspAspGlnCysSerAsnLeu)
c.1306_1307insGCTGCGATGACCAGTGCAGCAACC (p.Phe436delinsCysCysAspAspGlnCysSerAsnLeu)
c.1177_1178insGCTGCGATGACCAGTGCAGCAACC (p.Phe393delinsCysCysAspAspGlnCysSerAsnLeu)
17g.1754317T>ACA397575423SERPINF2c.1259T>A (p.Phe420Tyr)
c.1067T>A (p.Phe356Tyr)
c.1364T>A (p.Phe455Tyr)
c.1271T>A (p.Phe424Tyr)
c.1307T>A (p.Phe436Tyr)
c.1178T>A (p.Phe393Tyr)
17g.1754317T>CCA397575420SERPINF2c.1259T>C (p.Phe420Ser)
c.1067T>C (p.Phe356Ser)
c.1364T>C (p.Phe455Ser)
c.1271T>C (p.Phe424Ser)
c.1307T>C (p.Phe436Ser)
c.1178T>C (p.Phe393Ser)
17g.1754317T>GCA397575421SERPINF2c.1259T>G (p.Phe420Cys)
c.1067T>G (p.Phe356Cys)
c.1364T>G (p.Phe455Cys)
c.1271T>G (p.Phe424Cys)
c.1307T>G (p.Phe436Cys)
c.1178T>G (p.Phe393Cys)
17g.1754318C>ACA397575427SERPINF2c.1260C>A (p.Phe420Leu)
c.1068C>A (p.Phe356Leu)
c.1365C>A (p.Phe455Leu)
c.1272C>A (p.Phe424Leu)
c.1308C>A (p.Phe436Leu)
c.1179C>A (p.Phe393Leu)
17g.1754318C=CA2243019053SERPINF2c.1260C= (p.Phe420=)
c.1068C= (p.Phe356=)
c.1365C= (p.Phe455=)
c.1272C= (p.Phe424=)
c.1308C= (p.Phe436=)
c.1179C= (p.Phe393=)
17g.1754318C>GCA397575430SERPINF2c.1260C>G (p.Phe420Leu)
c.1068C>G (p.Phe356Leu)
c.1365C>G (p.Phe455Leu)
c.1272C>G (p.Phe424Leu)
c.1308C>G (p.Phe436Leu)
c.1179C>G (p.Phe393Leu)
17g.1754318C>TCA8274424SERPINF2c.1260C>T (p.Phe420=)
c.1068C>T (p.Phe356=)
c.1365C>T (p.Phe455=)
c.1272C>T (p.Phe424=)
c.1308C>T (p.Phe436=)
c.1179C>T (p.Phe393=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.1754319G>ACA397575439SERPINF2c.1261G>A (p.Glu421Lys)
c.1069G>A (p.Glu357Lys)
c.1366G>A (p.Glu456Lys)
c.1273G>A (p.Glu425Lys)
c.1309G>A (p.Glu437Lys)
c.1180G>A (p.Glu394Lys)
dbSNP gnomAD v4
17g.1754319G>CCA397575442SERPINF2c.1261G>C (p.Glu421Gln)
c.1069G>C (p.Glu357Gln)
c.1366G>C (p.Glu456Gln)
c.1273G>C (p.Glu425Gln)
c.1309G>C (p.Glu437Gln)
c.1180G>C (p.Glu394Gln)
17g.1754319G=CA2243019059SERPINF2c.1261G= (p.Glu421=)
c.1069G= (p.Glu357=)
c.1366G= (p.Glu456=)
c.1273G= (p.Glu425=)
c.1309G= (p.Glu437=)
c.1180G= (p.Glu394=)
17g.1754319G>TCA397575444SERPINF2c.1261G>T (p.Glu421Ter)
c.1069G>T (p.Glu357Ter)
c.1366G>T (p.Glu456Ter)
c.1273G>T (p.Glu425Ter)
c.1309G>T (p.Glu437Ter)
c.1180G>T (p.Glu394Ter)
17g.1754320A>CCA397575449SERPINF2c.1262A>C (p.Glu421Ala)
c.1070A>C (p.Glu357Ala)
c.1367A>C (p.Glu456Ala)
c.1274A>C (p.Glu425Ala)
c.1310A>C (p.Glu437Ala)
c.1181A>C (p.Glu394Ala)
17g.1754320A>GCA397575452SERPINF2c.1262A>G (p.Glu421Gly)
c.1070A>G (p.Glu357Gly)
c.1367A>G (p.Glu456Gly)
c.1274A>G (p.Glu425Gly)
c.1310A>G (p.Glu437Gly)
c.1181A>G (p.Glu394Gly)
17g.1754320A>TCA397575454SERPINF2c.1262A>T (p.Glu421Val)
c.1070A>T (p.Glu357Val)
c.1367A>T (p.Glu456Val)
c.1274A>T (p.Glu425Val)
c.1310A>T (p.Glu437Val)
c.1181A>T (p.Glu394Val)
17g.1754321G>ACA497389452SERPINF2c.1263G>A (p.Glu421=)
c.1071G>A (p.Glu357=)
c.1368G>A (p.Glu456=)
c.1275G>A (p.Glu425=)
c.1311G>A (p.Glu437=)
c.1182G>A (p.Glu394=)
dbSNP gnomAD v2 gnomAD v4
17g.1754321G>CCA397575460SERPINF2c.1263G>C (p.Glu421Asp)
c.1071G>C (p.Glu357Asp)
c.1368G>C (p.Glu456Asp)
c.1275G>C (p.Glu425Asp)
c.1311G>C (p.Glu437Asp)
c.1182G>C (p.Glu394Asp)
dbSNP gnomAD v4
17g.1754321G=CA2243019066SERPINF2c.1263G= (p.Glu421=)
c.1071G= (p.Glu357=)
c.1368G= (p.Glu456=)
c.1275G= (p.Glu425=)
c.1311G= (p.Glu437=)
c.1182G= (p.Glu394=)
17g.1754321G>TCA397575463SERPINF2c.1263G>T (p.Glu421Asp)
c.1071G>T (p.Glu357Asp)
c.1368G>T (p.Glu456Asp)
c.1275G>T (p.Glu425Asp)
c.1311G>T (p.Glu437Asp)
c.1182G>T (p.Glu394Asp)
17g.1754321_1754322insCCA2529876508SERPINF2c.1263_1264insC (p.Asp422ArgfsTer?)
c.1071_1072insC (p.Asp358ArgfsTer?)
c.1368_1369insC (p.Asp457ArgfsTer?)
c.1275_1276insC (p.Asp426ArgfsTer?)
c.1311_1312insC (p.Asp438ArgfsTer?)
c.1182_1183insC (p.Asp395ArgfsTer?)
17g.1754322G>ACA397575467SERPINF2c.1264G>A (p.Asp422Asn)
c.1072G>A (p.Asp358Asn)
c.1369G>A (p.Asp457Asn)
c.1276G>A (p.Asp426Asn)
c.1312G>A (p.Asp438Asn)
c.1183G>A (p.Asp395Asn)
17g.1754322G>CCA397575473SERPINF2c.1264G>C (p.Asp422His)
c.1072G>C (p.Asp358His)
c.1369G>C (p.Asp457His)
c.1276G>C (p.Asp426His)
c.1312G>C (p.Asp438His)
c.1183G>C (p.Asp395His)
17g.1754322G>TCA397575470SERPINF2c.1264G>T (p.Asp422Tyr)
c.1072G>T (p.Asp358Tyr)
c.1369G>T (p.Asp457Tyr)
c.1276G>T (p.Asp426Tyr)
c.1312G>T (p.Asp438Tyr)
c.1183G>T (p.Asp395Tyr)
17g.1754323A>CCA397575477SERPINF2c.1265A>C (p.Asp422Ala)
c.1073A>C (p.Asp358Ala)
c.1370A>C (p.Asp457Ala)
c.1277A>C (p.Asp426Ala)
c.1313A>C (p.Asp438Ala)
c.1184A>C (p.Asp395Ala)
17g.1754323A>GCA397575484SERPINF2c.1265A>G (p.Asp422Gly)
c.1073A>G (p.Asp358Gly)
c.1370A>G (p.Asp457Gly)
c.1277A>G (p.Asp426Gly)
c.1313A>G (p.Asp438Gly)
c.1184A>G (p.Asp395Gly)
17g.1754323A>TCA397575480SERPINF2c.1265A>T (p.Asp422Val)
c.1073A>T (p.Asp358Val)
c.1370A>T (p.Asp457Val)
c.1277A>T (p.Asp426Val)
c.1313A>T (p.Asp438Val)
c.1184A>T (p.Asp395Val)
gnomAD v4
17g.1754324C>ACA397575488SERPINF2c.1266C>A (p.Asp422Glu)
c.1074C>A (p.Asp358Glu)
c.1371C>A (p.Asp457Glu)
c.1278C>A (p.Asp426Glu)
c.1314C>A (p.Asp438Glu)
c.1185C>A (p.Asp395Glu)
17g.1754324C=CA2243019070SERPINF2c.1266C= (p.Asp422=)
c.1074C= (p.Asp358=)
c.1371C= (p.Asp457=)
c.1278C= (p.Asp426=)
c.1314C= (p.Asp438=)
c.1185C= (p.Asp395=)
17g.1754324C>GCA397575493SERPINF2c.1266C>G (p.Asp422Glu)
c.1074C>G (p.Asp358Glu)
c.1371C>G (p.Asp457Glu)
c.1278C>G (p.Asp426Glu)
c.1314C>G (p.Asp438Glu)
c.1185C>G (p.Asp395Glu)
17g.1754324C>TCA286822088SERPINF2c.1266C>T (p.Asp422=)
c.1074C>T (p.Asp358=)
c.1371C>T (p.Asp457=)
c.1278C>T (p.Asp426=)
c.1314C>T (p.Asp438=)
c.1185C>T (p.Asp395=)
dbSNP gnomAD v3 gnomAD v4
17g.1754325A=CA2243019073SERPINF2c.1267A= (p.Thr423=)
c.1075A= (p.Thr359=)
c.1372A= (p.Thr458=)
c.1279A= (p.Thr427=)
c.1315A= (p.Thr439=)
c.1186A= (p.Thr396=)
17g.1754325A>CCA397575498SERPINF2c.1267A>C (p.Thr423Pro)
c.1075A>C (p.Thr359Pro)
c.1372A>C (p.Thr458Pro)
c.1279A>C (p.Thr427Pro)
c.1315A>C (p.Thr439Pro)
c.1186A>C (p.Thr396Pro)
17g.1754325A>GCA397575507SERPINF2c.1267A>G (p.Thr423Ala)
c.1075A>G (p.Thr359Ala)
c.1372A>G (p.Thr458Ala)
c.1279A>G (p.Thr427Ala)
c.1315A>G (p.Thr439Ala)
c.1186A>G (p.Thr396Ala)
dbSNP
17g.1754325A>TCA397575501SERPINF2c.1267A>T (p.Thr423Ser)
c.1075A>T (p.Thr359Ser)
c.1372A>T (p.Thr458Ser)
c.1279A>T (p.Thr427Ser)
c.1315A>T (p.Thr439Ser)
c.1186A>T (p.Thr396Ser)
17g.1754326C>ACA397575514SERPINF2c.1268C>A (p.Thr423Asn)
c.1076C>A (p.Thr359Asn)
c.1373C>A (p.Thr458Asn)
c.1280C>A (p.Thr427Asn)
c.1316C>A (p.Thr439Asn)
c.1187C>A (p.Thr396Asn)
17g.1754326C=CA2243019074SERPINF2c.1268C= (p.Thr423=)
c.1076C= (p.Thr359=)
c.1373C= (p.Thr458=)
c.1280C= (p.Thr427=)
c.1316C= (p.Thr439=)
c.1187C= (p.Thr396=)
17g.1754326C>GCA397575517SERPINF2c.1268C>G (p.Thr423Ser)
c.1076C>G (p.Thr359Ser)
c.1373C>G (p.Thr458Ser)
c.1280C>G (p.Thr427Ser)
c.1316C>G (p.Thr439Ser)
c.1187C>G (p.Thr396Ser)
17g.1754326C>TCA286822089SERPINF2c.1268C>T (p.Thr423Ile)
c.1076C>T (p.Thr359Ile)
c.1373C>T (p.Thr458Ile)
c.1280C>T (p.Thr427Ile)
c.1316C>T (p.Thr439Ile)
c.1187C>T (p.Thr396Ile)
dbSNP gnomAD v4
17g.1754326_1754327insACAAACCAAACACACCCAACA2808197584SERPINF2c.1268_1269insACAAACCAAACACACCCAA (p.Thr424GlnfsTer?)
c.1076_1077insACAAACCAAACACACCCAA (p.Thr360GlnfsTer?)
c.1373_1374insACAAACCAAACACACCCAA (p.Thr459GlnfsTer?)
c.1280_1281insACAAACCAAACACACCCAA (p.Thr428GlnfsTer?)
c.1316_1317insACAAACCAAACACACCCAA (p.Thr440GlnfsTer?)
c.1187_1188insACAAACCAAACACACCCAA (p.Thr397GlnfsTer?)
17g.1754327C>ACA497389461SERPINF2c.1269C>A (p.Thr423=)
c.1077C>A (p.Thr359=)
c.1374C>A (p.Thr458=)
c.1281C>A (p.Thr427=)
c.1317C>A (p.Thr439=)
c.1188C>A (p.Thr396=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1754327C=CA2243019076SERPINF2c.1269C= (p.Thr423=)
c.1077C= (p.Thr359=)
c.1374C= (p.Thr458=)
c.1281C= (p.Thr427=)
c.1317C= (p.Thr439=)
c.1188C= (p.Thr396=)
17g.1754327C>GCA497389462SERPINF2c.1269C>G (p.Thr423=)
c.1077C>G (p.Thr359=)
c.1374C>G (p.Thr458=)
c.1281C>G (p.Thr427=)
c.1317C>G (p.Thr439=)
c.1188C>G (p.Thr396=)
17g.1754327C>TCA497389463SERPINF2c.1269C>T (p.Thr423=)
c.1077C>T (p.Thr359=)
c.1374C>T (p.Thr458=)
c.1281C>T (p.Thr427=)
c.1317C>T (p.Thr439=)
c.1188C>T (p.Thr396=)
17g.1754328A>CCA397575523SERPINF2c.1270A>C (p.Thr424Pro)
c.1078A>C (p.Thr360Pro)
c.1375A>C (p.Thr459Pro)
c.1282A>C (p.Thr428Pro)
c.1318A>C (p.Thr440Pro)
c.1189A>C (p.Thr397Pro)
17g.1754328A>GCA397575525SERPINF2c.1270A>G (p.Thr424Ala)
c.1078A>G (p.Thr360Ala)
c.1375A>G (p.Thr459Ala)
c.1282A>G (p.Thr428Ala)
c.1318A>G (p.Thr440Ala)
c.1189A>G (p.Thr397Ala)
17g.1754328A>TCA397575529SERPINF2c.1270A>T (p.Thr424Ser)
c.1078A>T (p.Thr360Ser)
c.1375A>T (p.Thr459Ser)
c.1282A>T (p.Thr428Ser)
c.1318A>T (p.Thr440Ser)
c.1189A>T (p.Thr397Ser)
17g.1754329C>ACA397575535SERPINF2c.1271C>A (p.Thr424Lys)
c.1079C>A (p.Thr360Lys)
c.1376C>A (p.Thr459Lys)
c.1283C>A (p.Thr428Lys)
c.1319C>A (p.Thr440Lys)
c.1190C>A (p.Thr397Lys)
17g.1754329C=CA2243019080SERPINF2c.1271C= (p.Thr424=)
c.1079C= (p.Thr360=)
c.1376C= (p.Thr459=)
c.1283C= (p.Thr428=)
c.1319C= (p.Thr440=)
c.1190C= (p.Thr397=)
17g.1754329C>GCA397575537SERPINF2c.1271C>G (p.Thr424Arg)
c.1079C>G (p.Thr360Arg)
c.1376C>G (p.Thr459Arg)
c.1283C>G (p.Thr428Arg)
c.1319C>G (p.Thr440Arg)
c.1190C>G (p.Thr397Arg)
dbSNP
17g.1754329C>TCA397575541SERPINF2c.1271C>T (p.Thr424Ile)
c.1079C>T (p.Thr360Ile)
c.1376C>T (p.Thr459Ile)
c.1283C>T (p.Thr428Ile)
c.1319C>T (p.Thr440Ile)
c.1190C>T (p.Thr397Ile)
dbSNP gnomAD v3 gnomAD v4
17g.1754330A=CA2243019081SERPINF2c.1272A= (p.Thr424=)
c.1080A= (p.Thr360=)
c.1377A= (p.Thr459=)
c.1284A= (p.Thr428=)
c.1320A= (p.Thr440=)
c.1191A= (p.Thr397=)
17g.1754330A>CCA497389470SERPINF2c.1272A>C (p.Thr424=)
c.1080A>C (p.Thr360=)
c.1377A>C (p.Thr459=)
c.1284A>C (p.Thr428=)
c.1320A>C (p.Thr440=)
c.1191A>C (p.Thr397=)
17g.1754330A>GCA8274425SERPINF2c.1272A>G (p.Thr424=)
c.1080A>G (p.Thr360=)
c.1377A>G (p.Thr459=)
c.1284A>G (p.Thr428=)
c.1320A>G (p.Thr440=)
c.1191A>G (p.Thr397=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1754330A>TCA497389469SERPINF2c.1272A>T (p.Thr424=)
c.1080A>T (p.Thr360=)
c.1377A>T (p.Thr459=)
c.1284A>T (p.Thr428=)
c.1320A>T (p.Thr440=)
c.1191A>T (p.Thr397=)
17g.1754331G>ACA397575548SERPINF2c.1273G>A (p.Gly425Ser)
c.1081G>A (p.Gly361Ser)
c.1378G>A (p.Gly460Ser)
c.1285G>A (p.Gly429Ser)
c.1321G>A (p.Gly441Ser)
c.1192G>A (p.Gly398Ser)
dbSNP gnomAD v3 gnomAD v4
17g.1754331G>CCA397575551SERPINF2c.1273G>C (p.Gly425Arg)
c.1081G>C (p.Gly361Arg)
c.1378G>C (p.Gly460Arg)
c.1285G>C (p.Gly429Arg)
c.1321G>C (p.Gly441Arg)
c.1192G>C (p.Gly398Arg)
17g.1754331G=CA2243019083SERPINF2c.1273G= (p.Gly425=)
c.1081G= (p.Gly361=)
c.1378G= (p.Gly460=)
c.1285G= (p.Gly429=)
c.1321G= (p.Gly441=)
c.1192G= (p.Gly398=)
17g.1754331G>TCA397575553SERPINF2c.1273G>T (p.Gly425Cys)
c.1081G>T (p.Gly361Cys)
c.1378G>T (p.Gly460Cys)
c.1285G>T (p.Gly429Cys)
c.1321G>T (p.Gly441Cys)
c.1192G>T (p.Gly398Cys)
17g.1754332G>ACA397575566SERPINF2c.1274G>A (p.Gly425Asp)
c.1082G>A (p.Gly361Asp)
c.1379G>A (p.Gly460Asp)
c.1286G>A (p.Gly429Asp)
c.1322G>A (p.Gly441Asp)
c.1193G>A (p.Gly398Asp)
17g.1754332G>CCA397575559SERPINF2c.1274G>C (p.Gly425Ala)
c.1082G>C (p.Gly361Ala)
c.1379G>C (p.Gly460Ala)
c.1286G>C (p.Gly429Ala)
c.1322G>C (p.Gly441Ala)
c.1193G>C (p.Gly398Ala)
17g.1754332G>TCA397575562SERPINF2c.1274G>T (p.Gly425Val)
c.1082G>T (p.Gly361Val)
c.1379G>T (p.Gly460Val)
c.1286G>T (p.Gly429Val)
c.1322G>T (p.Gly441Val)
c.1193G>T (p.Gly398Val)
17g.1754333C>ACA497389600SERPINF2c.1275C>A (p.Gly425=)
c.1083C>A (p.Gly361=)
c.1380C>A (p.Gly460=)
c.1287C>A (p.Gly429=)
c.1323C>A (p.Gly441=)
c.1194C>A (p.Gly398=)
gnomAD v4
17g.1754333C>GCA497389597SERPINF2c.1275C>G (p.Gly425=)
c.1083C>G (p.Gly361=)
c.1380C>G (p.Gly460=)
c.1287C>G (p.Gly429=)
c.1323C>G (p.Gly441=)
c.1194C>G (p.Gly398=)
17g.1754333C>TCA497389598SERPINF2c.1275C>T (p.Gly425=)
c.1083C>T (p.Gly361=)
c.1380C>T (p.Gly460=)
c.1287C>T (p.Gly429=)
c.1323C>T (p.Gly441=)
c.1194C>T (p.Gly398=)
gnomAD v4
17g.1754334delCA1139532267SERPINF2c.1276del (p.Leu426PhefsTer8)
c.1084del (p.Leu362PhefsTer8)
c.1381del (p.Leu461PhefsTer8)
c.1288del (p.Leu430PhefsTer8)
c.1324del (p.Leu442PhefsTer8)
c.1195del (p.Leu399PhefsTer8)
17g.1754334C>ACA397575570SERPINF2c.1276C>A (p.Leu426Ile)
c.1084C>A (p.Leu362Ile)
c.1381C>A (p.Leu461Ile)
c.1288C>A (p.Leu430Ile)
c.1324C>A (p.Leu442Ile)
c.1195C>A (p.Leu399Ile)
17g.1754334C=CA2243019086SERPINF2c.1276C= (p.Leu426=)
c.1084C= (p.Leu362=)
c.1381C= (p.Leu461=)
c.1288C= (p.Leu430=)
c.1324C= (p.Leu442=)
c.1195C= (p.Leu399=)
17g.1754334C>GCA397575573SERPINF2c.1276C>G (p.Leu426Val)
c.1084C>G (p.Leu362Val)
c.1381C>G (p.Leu461Val)
c.1288C>G (p.Leu430Val)
c.1324C>G (p.Leu442Val)
c.1195C>G (p.Leu399Val)
gnomAD v4
17g.1754334C>TCA397575576SERPINF2c.1276C>T (p.Leu426Phe)
c.1084C>T (p.Leu362Phe)
c.1381C>T (p.Leu461Phe)
c.1288C>T (p.Leu430Phe)
c.1324C>T (p.Leu442Phe)
c.1195C>T (p.Leu399Phe)
dbSNP gnomAD v4
17g.1754335T>ACA397575580SERPINF2c.1277T>A (p.Leu426His)
c.1085T>A (p.Leu362His)
c.1382T>A (p.Leu461His)
c.1289T>A (p.Leu430His)
c.1325T>A (p.Leu442His)
c.1196T>A (p.Leu399His)
17g.1754335T>CCA8274426SERPINF2c.1277T>C (p.Leu426Pro)
c.1085T>C (p.Leu362Pro)
c.1382T>C (p.Leu461Pro)
c.1289T>C (p.Leu430Pro)
c.1325T>C (p.Leu442Pro)
c.1196T>C (p.Leu399Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.1754335T>GCA397575584SERPINF2c.1277T>G (p.Leu426Arg)
c.1085T>G (p.Leu362Arg)
c.1382T>G (p.Leu461Arg)
c.1289T>G (p.Leu430Arg)
c.1325T>G (p.Leu442Arg)
c.1196T>G (p.Leu399Arg)
17g.1754335T=CA2243019090SERPINF2c.1277T= (p.Leu426=)
c.1085T= (p.Leu362=)
c.1382T= (p.Leu461=)
c.1289T= (p.Leu430=)
c.1325T= (p.Leu442=)
c.1196T= (p.Leu399=)
17g.1754336T>ACA497389603SERPINF2c.1278T>A (p.Leu426=)
c.1086T>A (p.Leu362=)
c.1383T>A (p.Leu461=)
c.1290T>A (p.Leu430=)
c.1326T>A (p.Leu442=)
c.1197T>A (p.Leu399=)
gnomAD v4
17g.1754336T>CCA497389607SERPINF2c.1278T>C (p.Leu426=)
c.1086T>C (p.Leu362=)
c.1383T>C (p.Leu461=)
c.1290T>C (p.Leu430=)
c.1326T>C (p.Leu442=)
c.1197T>C (p.Leu399=)
gnomAD v4
17g.1754336T>GCA497389605SERPINF2c.1278T>G (p.Leu426=)
c.1086T>G (p.Leu362=)
c.1383T>G (p.Leu461=)
c.1290T>G (p.Leu430=)
c.1326T>G (p.Leu442=)
c.1197T>G (p.Leu399=)
17g.1754337C>ACA397575590SERPINF2c.1279C>A (p.Pro427Thr)
c.1087C>A (p.Pro363Thr)
c.1384C>A (p.Pro462Thr)
c.1291C>A (p.Pro431Thr)
c.1327C>A (p.Pro443Thr)
c.1198C>A (p.Pro400Thr)
17g.1754337C>GCA397575592SERPINF2c.1279C>G (p.Pro427Ala)
c.1087C>G (p.Pro363Ala)
c.1384C>G (p.Pro462Ala)
c.1291C>G (p.Pro431Ala)
c.1327C>G (p.Pro443Ala)
c.1198C>G (p.Pro400Ala)
17g.1754337C>TCA397575594SERPINF2c.1279C>T (p.Pro427Ser)
c.1087C>T (p.Pro363Ser)
c.1384C>T (p.Pro462Ser)
c.1291C>T (p.Pro431Ser)
c.1327C>T (p.Pro443Ser)
c.1198C>T (p.Pro400Ser)
17g.1754338C>ACA397575595SERPINF2c.1280C>A (p.Pro427His)
c.1088C>A (p.Pro363His)
c.1385C>A (p.Pro462His)
c.1292C>A (p.Pro431His)
c.1328C>A (p.Pro443His)
c.1199C>A (p.Pro400His)
17g.1754338C=CA2243019093SERPINF2c.1280C= (p.Pro427=)
c.1088C= (p.Pro363=)
c.1385C= (p.Pro462=)
c.1292C= (p.Pro431=)
c.1328C= (p.Pro443=)
c.1199C= (p.Pro400=)
17g.1754338C>GCA397575596SERPINF2c.1280C>G (p.Pro427Arg)
c.1088C>G (p.Pro363Arg)
c.1385C>G (p.Pro462Arg)
c.1292C>G (p.Pro431Arg)
c.1328C>G (p.Pro443Arg)
c.1199C>G (p.Pro400Arg)
17g.1754338C>TCA397575597SERPINF2c.1280C>T (p.Pro427Leu)
c.1088C>T (p.Pro363Leu)
c.1385C>T (p.Pro462Leu)
c.1292C>T (p.Pro431Leu)
c.1328C>T (p.Pro443Leu)
c.1199C>T (p.Pro400Leu)
dbSNP gnomAD v3 gnomAD v4
17g.1754339C>ACA497389608SERPINF2c.1281C>A (p.Pro427=)
c.1089C>A (p.Pro363=)
c.1386C>A (p.Pro462=)
c.1293C>A (p.Pro431=)
c.1329C>A (p.Pro443=)
c.1200C>A (p.Pro400=)
17g.1754339C=CA2243019098SERPINF2c.1281C= (p.Pro427=)
c.1089C= (p.Pro363=)
c.1386C= (p.Pro462=)
c.1293C= (p.Pro431=)
c.1329C= (p.Pro443=)
c.1200C= (p.Pro400=)
17g.1754339C>GCA497389609SERPINF2c.1281C>G (p.Pro427=)
c.1089C>G (p.Pro363=)
c.1386C>G (p.Pro462=)
c.1293C>G (p.Pro431=)
c.1329C>G (p.Pro443=)
c.1200C>G (p.Pro400=)
17g.1754339C>TCA497389611SERPINF2c.1281C>T (p.Pro427=)
c.1089C>T (p.Pro363=)
c.1386C>T (p.Pro462=)
c.1293C>T (p.Pro431=)
c.1329C>T (p.Pro443=)
c.1200C>T (p.Pro400=)
dbSNP gnomAD v2 gnomAD v4
17g.1754340C>ACA397575600SERPINF2c.1282C>A (p.Leu428Ile)
c.1090C>A (p.Leu364Ile)
c.1387C>A (p.Leu463Ile)
c.1294C>A (p.Leu432Ile)
c.1330C>A (p.Leu444Ile)
c.1201C>A (p.Leu401Ile)
17g.1754340C=CA2243019103SERPINF2c.1282C= (p.Leu428=)
c.1090C= (p.Leu364=)
c.1387C= (p.Leu463=)
c.1294C= (p.Leu432=)
c.1330C= (p.Leu444=)
c.1201C= (p.Leu401=)
17g.1754340C>GCA397575606SERPINF2c.1282C>G (p.Leu428Val)
c.1090C>G (p.Leu364Val)
c.1387C>G (p.Leu463Val)
c.1294C>G (p.Leu432Val)
c.1330C>G (p.Leu444Val)
c.1201C>G (p.Leu401Val)
dbSNP gnomAD v2 gnomAD v4
17g.1754340C>TCA397575602SERPINF2c.1282C>T (p.Leu428Phe)
c.1090C>T (p.Leu364Phe)
c.1387C>T (p.Leu463Phe)
c.1294C>T (p.Leu432Phe)
c.1330C>T (p.Leu444Phe)
c.1201C>T (p.Leu401Phe)
17g.1754341T>ACA397575608SERPINF2c.1283T>A (p.Leu428His)
c.1091T>A (p.Leu364His)
c.1388T>A (p.Leu463His)
c.1295T>A (p.Leu432His)
c.1331T>A (p.Leu444His)
c.1202T>A (p.Leu401His)
17g.1754341T>CCA397575609SERPINF2c.1283T>C (p.Leu428Pro)
c.1091T>C (p.Leu364Pro)
c.1388T>C (p.Leu463Pro)
c.1295T>C (p.Leu432Pro)
c.1331T>C (p.Leu444Pro)
c.1202T>C (p.Leu401Pro)
17g.1754341T>GCA397575612SERPINF2c.1283T>G (p.Leu428Arg)
c.1091T>G (p.Leu364Arg)
c.1388T>G (p.Leu463Arg)
c.1295T>G (p.Leu432Arg)
c.1331T>G (p.Leu444Arg)
c.1202T>G (p.Leu401Arg)
17g.1754342C>ACA497389612SERPINF2c.1284C>A (p.Leu428=)
c.1092C>A (p.Leu364=)
c.1389C>A (p.Leu463=)
c.1296C>A (p.Leu432=)
c.1332C>A (p.Leu444=)
c.1203C>A (p.Leu401=)
17g.1754342C>GCA497389614SERPINF2c.1284C>G (p.Leu428=)
c.1092C>G (p.Leu364=)
c.1389C>G (p.Leu463=)
c.1296C>G (p.Leu432=)
c.1332C>G (p.Leu444=)
c.1203C>G (p.Leu401=)
17g.1754342C>TCA497389613SERPINF2c.1284C>T (p.Leu428=)
c.1092C>T (p.Leu364=)
c.1389C>T (p.Leu463=)
c.1296C>T (p.Leu432=)
c.1332C>T (p.Leu444=)
c.1203C>T (p.Leu401=)
17g.1754343T>ACA397575615SERPINF2c.1285T>A (p.Phe429Ile)
c.1093T>A (p.Phe365Ile)
c.1390T>A (p.Phe464Ile)
c.1297T>A (p.Phe433Ile)
c.1333T>A (p.Phe445Ile)
c.1204T>A (p.Phe402Ile)
17g.1754343T>CCA397575616SERPINF2c.1285T>C (p.Phe429Leu)
c.1093T>C (p.Phe365Leu)
c.1390T>C (p.Phe464Leu)
c.1297T>C (p.Phe433Leu)
c.1333T>C (p.Phe445Leu)
c.1204T>C (p.Phe402Leu)
17g.1754343T>GCA397575617SERPINF2c.1285T>G (p.Phe429Val)
c.1093T>G (p.Phe365Val)
c.1390T>G (p.Phe464Val)
c.1297T>G (p.Phe433Val)
c.1333T>G (p.Phe445Val)
c.1204T>G (p.Phe402Val)
17g.1754344T>ACA397575619SERPINF2c.1286T>A (p.Phe429Tyr)
c.1094T>A (p.Phe365Tyr)
c.1391T>A (p.Phe464Tyr)
c.1298T>A (p.Phe433Tyr)
c.1334T>A (p.Phe445Tyr)
c.1205T>A (p.Phe402Tyr)
17g.1754344T>CCA397575621SERPINF2c.1286T>C (p.Phe429Ser)
c.1094T>C (p.Phe365Ser)
c.1391T>C (p.Phe464Ser)
c.1298T>C (p.Phe433Ser)
c.1334T>C (p.Phe445Ser)
c.1205T>C (p.Phe402Ser)
17g.1754344T>GCA397575623SERPINF2c.1286T>G (p.Phe429Cys)
c.1094T>G (p.Phe365Cys)
c.1391T>G (p.Phe464Cys)
c.1298T>G (p.Phe433Cys)
c.1334T>G (p.Phe445Cys)
c.1205T>G (p.Phe402Cys)
gnomAD v4
17g.1754345C>ACA397575627SERPINF2c.1287C>A (p.Phe429Leu)
c.1095C>A (p.Phe365Leu)
c.1392C>A (p.Phe464Leu)
c.1299C>A (p.Phe433Leu)
c.1335C>A (p.Phe445Leu)
c.1206C>A (p.Phe402Leu)
17g.1754345C=CA2243019110SERPINF2c.1287C= (p.Phe429=)
c.1095C= (p.Phe365=)
c.1392C= (p.Phe464=)
c.1299C= (p.Phe433=)
c.1335C= (p.Phe445=)
c.1206C= (p.Phe402=)
17g.1754345C>GCA397575629SERPINF2c.1287C>G (p.Phe429Leu)
c.1095C>G (p.Phe365Leu)
c.1392C>G (p.Phe464Leu)
c.1299C>G (p.Phe433Leu)
c.1335C>G (p.Phe445Leu)
c.1206C>G (p.Phe402Leu)
17g.1754345C>TCA8274427SERPINF2c.1287C>T (p.Phe429=)
c.1095C>T (p.Phe365=)
c.1392C>T (p.Phe464=)
c.1299C>T (p.Phe433=)
c.1335C>T (p.Phe445=)
c.1206C>T (p.Phe402=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1754346G>ACA8274428SERPINF2c.1288G>A (p.Val430Met)
c.1096G>A (p.Val366Met)
c.1393G>A (p.Val465Met)
c.1300G>A (p.Val434Met)
c.1336G>A (p.Val446Met)
c.1207G>A (p.Val403Met)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.1754346G>CCA397575640SERPINF2c.1288G>C (p.Val430Leu)
c.1096G>C (p.Val366Leu)
c.1393G>C (p.Val465Leu)
c.1300G>C (p.Val434Leu)
c.1336G>C (p.Val446Leu)
c.1207G>C (p.Val403Leu)
17g.1754346G=CA2243019115SERPINF2c.1288G= (p.Val430=)
c.1096G= (p.Val366=)
c.1393G= (p.Val465=)
c.1300G= (p.Val434=)
c.1336G= (p.Val446=)
c.1207G= (p.Val403=)
17g.1754346G>TCA397575636SERPINF2c.1288G>T (p.Val430Leu)
c.1096G>T (p.Val366Leu)
c.1393G>T (p.Val465Leu)
c.1300G>T (p.Val434Leu)
c.1336G>T (p.Val446Leu)
c.1207G>T (p.Val403Leu)
17g.1754347T>ACA397575643SERPINF2c.1289T>A (p.Val430Glu)
c.1097T>A (p.Val366Glu)
c.1394T>A (p.Val465Glu)
c.1301T>A (p.Val434Glu)
c.1337T>A (p.Val446Glu)
c.1208T>A (p.Val403Glu)
17g.1754347T>CCA397575646SERPINF2c.1289T>C (p.Val430Ala)
c.1097T>C (p.Val366Ala)
c.1394T>C (p.Val465Ala)
c.1301T>C (p.Val434Ala)
c.1337T>C (p.Val446Ala)
c.1208T>C (p.Val403Ala)
17g.1754347T>GCA397575648SERPINF2c.1289T>G (p.Val430Gly)
c.1097T>G (p.Val366Gly)
c.1394T>G (p.Val465Gly)
c.1301T>G (p.Val434Gly)
c.1337T>G (p.Val446Gly)
c.1208T>G (p.Val403Gly)
17g.1754348G>ACA497389620SERPINF2c.1290G>A (p.Val430=)
c.1098G>A (p.Val366=)
c.1395G>A (p.Val465=)
c.1302G>A (p.Val434=)
c.1338G>A (p.Val446=)
c.1209G>A (p.Val403=)
dbSNP gnomAD v4
17g.1754348G>CCA497389622SERPINF2c.1290G>C (p.Val430=)
c.1098G>C (p.Val366=)
c.1395G>C (p.Val465=)
c.1302G>C (p.Val434=)
c.1338G>C (p.Val446=)
c.1209G>C (p.Val403=)
17g.1754348G=CA2243019118SERPINF2c.1290G= (p.Val430=)
c.1098G= (p.Val366=)
c.1395G= (p.Val465=)
c.1302G= (p.Val434=)
c.1338G= (p.Val446=)
c.1209G= (p.Val403=)
17g.1754348G>TCA497389623SERPINF2c.1290G>T (p.Val430=)
c.1098G>T (p.Val366=)
c.1395G>T (p.Val465=)
c.1302G>T (p.Val434=)
c.1338G>T (p.Val446=)
c.1209G>T (p.Val403=)
17g.1754349G>ACA397575649SERPINF2c.1291G>A (p.Gly431Ser)
c.1099G>A (p.Gly367Ser)
c.1396G>A (p.Gly466Ser)
c.1303G>A (p.Gly435Ser)
c.1339G>A (p.Gly447Ser)
c.1210G>A (p.Gly404Ser)
gnomAD v4
17g.1754349G>CCA397575650SERPINF2c.1291G>C (p.Gly431Arg)
c.1099G>C (p.Gly367Arg)
c.1396G>C (p.Gly466Arg)
c.1303G>C (p.Gly435Arg)
c.1339G>C (p.Gly447Arg)
c.1210G>C (p.Gly404Arg)
17g.1754349G>TCA397575651SERPINF2c.1291G>T (p.Gly431Cys)
c.1099G>T (p.Gly367Cys)
c.1396G>T (p.Gly466Cys)
c.1303G>T (p.Gly435Cys)
c.1339G>T (p.Gly447Cys)
c.1210G>T (p.Gly404Cys)
17g.1754350G>ACA397575653SERPINF2c.1292G>A (p.Gly431Asp)
c.1100G>A (p.Gly367Asp)
c.1397G>A (p.Gly466Asp)
c.1304G>A (p.Gly435Asp)
c.1340G>A (p.Gly447Asp)
c.1211G>A (p.Gly404Asp)
17g.1754350G>CCA397575654SERPINF2c.1292G>C (p.Gly431Ala)
c.1100G>C (p.Gly367Ala)
c.1397G>C (p.Gly466Ala)
c.1304G>C (p.Gly435Ala)
c.1340G>C (p.Gly447Ala)
c.1211G>C (p.Gly404Ala)
17g.1754350G>TCA397575655SERPINF2c.1292G>T (p.Gly431Val)
c.1100G>T (p.Gly367Val)
c.1397G>T (p.Gly466Val)
c.1304G>T (p.Gly435Val)
c.1340G>T (p.Gly447Val)
c.1211G>T (p.Gly404Val)
17g.1754351C>ACA8274429SERPINF2c.1293C>A (p.Gly431=)
c.1101C>A (p.Gly367=)
c.1398C>A (p.Gly466=)
c.1305C>A (p.Gly435=)
c.1341C>A (p.Gly447=)
c.1212C>A (p.Gly404=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1754351C=CA2243019123SERPINF2c.1293C= (p.Gly431=)
c.1101C= (p.Gly367=)
c.1398C= (p.Gly466=)
c.1305C= (p.Gly435=)
c.1341C= (p.Gly447=)
c.1212C= (p.Gly404=)
17g.1754351C>GCA497389624SERPINF2c.1293C>G (p.Gly431=)
c.1101C>G (p.Gly367=)
c.1398C>G (p.Gly466=)
c.1305C>G (p.Gly435=)
c.1341C>G (p.Gly447=)
c.1212C>G (p.Gly404=)
17g.1754351C>TCA497389626SERPINF2c.1293C>T (p.Gly431=)
c.1101C>T (p.Gly367=)
c.1398C>T (p.Gly466=)
c.1305C>T (p.Gly435=)
c.1341C>T (p.Gly447=)
c.1212C>T (p.Gly404=)
gnomAD v4
17g.1754352A=CA2243019127SERPINF2c.1294A= (p.Ser432=)
c.1102A= (p.Ser368=)
c.1399A= (p.Ser467=)
c.1306A= (p.Ser436=)
c.1342A= (p.Ser448=)
c.1213A= (p.Ser405=)
17g.1754352A>CCA397575667SERPINF2c.1294A>C (p.Ser432Arg)
c.1102A>C (p.Ser368Arg)
c.1399A>C (p.Ser467Arg)
c.1306A>C (p.Ser436Arg)
c.1342A>C (p.Ser448Arg)
c.1213A>C (p.Ser405Arg)
17g.1754352A>GCA8274430SERPINF2c.1294A>G (p.Ser432Gly)
c.1102A>G (p.Ser368Gly)
c.1399A>G (p.Ser467Gly)
c.1306A>G (p.Ser436Gly)
c.1342A>G (p.Ser448Gly)
c.1213A>G (p.Ser405Gly)
dbSNP ExAC gnomAD v4
17g.1754352A>TCA397575665SERPINF2c.1294A>T (p.Ser432Cys)
c.1102A>T (p.Ser368Cys)
c.1399A>T (p.Ser467Cys)
c.1306A>T (p.Ser436Cys)
c.1342A>T (p.Ser448Cys)
c.1213A>T (p.Ser405Cys)
17g.1754353G>ACA397575675SERPINF2c.1295G>A (p.Ser432Asn)
c.1103G>A (p.Ser368Asn)
c.1400G>A (p.Ser467Asn)
c.1307G>A (p.Ser436Asn)
c.1343G>A (p.Ser448Asn)
c.1214G>A (p.Ser405Asn)
17g.1754353G>CCA397575671SERPINF2c.1295G>C (p.Ser432Thr)
c.1103G>C (p.Ser368Thr)
c.1400G>C (p.Ser467Thr)
c.1307G>C (p.Ser436Thr)
c.1343G>C (p.Ser448Thr)
c.1214G>C (p.Ser405Thr)
gnomAD v4
17g.1754353G=CA2243019132SERPINF2c.1295G= (p.Ser432=)
c.1103G= (p.Ser368=)
c.1400G= (p.Ser467=)
c.1307G= (p.Ser436=)
c.1343G= (p.Ser448=)
c.1214G= (p.Ser405=)
17g.1754353G>TCA8274431SERPINF2c.1295G>T (p.Ser432Ile)
c.1103G>T (p.Ser368Ile)
c.1400G>T (p.Ser467Ile)
c.1307G>T (p.Ser436Ile)
c.1343G>T (p.Ser448Ile)
c.1214G>T (p.Ser405Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.1754354C>ACA397575676SERPINF2c.1296C>A (p.Ser432Arg)
c.1104C>A (p.Ser368Arg)
c.1401C>A (p.Ser467Arg)
c.1308C>A (p.Ser436Arg)
c.1344C>A (p.Ser448Arg)
c.1215C>A (p.Ser405Arg)
17g.1754354C=CA2243019137SERPINF2c.1296C= (p.Ser432=)
c.1104C= (p.Ser368=)
c.1401C= (p.Ser467=)
c.1308C= (p.Ser436=)
c.1344C= (p.Ser448=)
c.1215C= (p.Ser405=)
17g.1754354C>GCA397575677SERPINF2c.1296C>G (p.Ser432Arg)
c.1104C>G (p.Ser368Arg)
c.1401C>G (p.Ser467Arg)
c.1308C>G (p.Ser436Arg)
c.1344C>G (p.Ser448Arg)
c.1215C>G (p.Ser405Arg)
gnomAD v4
17g.1754354C>TCA8274432SERPINF2c.1296C>T (p.Ser432=)
c.1104C>T (p.Ser368=)
c.1401C>T (p.Ser467=)
c.1308C>T (p.Ser436=)
c.1344C>T (p.Ser448=)
c.1215C>T (p.Ser405=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1754355G>ACA8274433SERPINF2c.1297G>A (p.Val433Met)
c.1105G>A (p.Val369Met)
c.1402G>A (p.Val468Met)
c.1309G>A (p.Val437Met)
c.1345G>A (p.Val449Met)
c.1216G>A (p.Val406Met)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.1754355G>CCA397575685SERPINF2c.1297G>C (p.Val433Leu)
c.1105G>C (p.Val369Leu)
c.1402G>C (p.Val468Leu)
c.1309G>C (p.Val437Leu)
c.1345G>C (p.Val449Leu)
c.1216G>C (p.Val406Leu)
17g.1754355G=CA2243019139SERPINF2c.1297G= (p.Val433=)
c.1105G= (p.Val369=)
c.1402G= (p.Val468=)
c.1309G= (p.Val437=)
c.1345G= (p.Val449=)
c.1216G= (p.Val406=)
17g.1754355G>TCA397575683SERPINF2c.1297G>T (p.Val433Leu)
c.1105G>T (p.Val369Leu)
c.1402G>T (p.Val468Leu)
c.1309G>T (p.Val437Leu)
c.1345G>T (p.Val449Leu)
c.1216G>T (p.Val406Leu)
17g.1754356T>ACA397575688SERPINF2c.1298T>A (p.Val433Glu)
c.1106T>A (p.Val369Glu)
c.1403T>A (p.Val468Glu)
c.1310T>A (p.Val437Glu)
c.1346T>A (p.Val449Glu)
c.1217T>A (p.Val406Glu)
17g.1754356T>CCA397575690SERPINF2c.1298T>C (p.Val433Ala)
c.1106T>C (p.Val369Ala)
c.1403T>C (p.Val468Ala)
c.1310T>C (p.Val437Ala)
c.1346T>C (p.Val449Ala)
c.1217T>C (p.Val406Ala)
17g.1754356T>GCA397575693SERPINF2c.1298T>G (p.Val433Gly)
c.1106T>G (p.Val369Gly)
c.1403T>G (p.Val468Gly)
c.1310T>G (p.Val437Gly)
c.1346T>G (p.Val449Gly)
c.1217T>G (p.Val406Gly)
COSMIC
17g.1754357G>ACA8274434SERPINF2c.1299G>A (p.Val433=)
c.1107G>A (p.Val369=)
c.1404G>A (p.Val468=)
c.1311G>A (p.Val437=)
c.1347G>A (p.Val449=)
c.1218G>A (p.Val406=)
dbSNP ExAC gnomAD v2
17g.1754357G>CCA497389629SERPINF2c.1299G>C (p.Val433=)
c.1107G>C (p.Val369=)
c.1404G>C (p.Val468=)
c.1311G>C (p.Val437=)
c.1347G>C (p.Val449=)
c.1218G>C (p.Val406=)
17g.1754357G=CA2243019144SERPINF2c.1299G= (p.Val433=)
c.1107G= (p.Val369=)
c.1404G= (p.Val468=)
c.1311G= (p.Val437=)
c.1347G= (p.Val449=)
c.1218G= (p.Val406=)
17g.1754357G>TCA497389630SERPINF2c.1299G>T (p.Val433=)
c.1107G>T (p.Val369=)
c.1404G>T (p.Val468=)
c.1311G>T (p.Val437=)
c.1347G>T (p.Val449=)
c.1218G>T (p.Val406=)
17g.1754358A>CCA497389631SERPINF2c.1300A>C (p.Arg434=)
c.1108A>C (p.Arg370=)
c.1405A>C (p.Arg469=)
c.1312A>C (p.Arg438=)
c.1348A>C (p.Arg450=)
c.1219A>C (p.Arg407=)
17g.1754358A>GCA397575696SERPINF2c.1300A>G (p.Arg434Gly)
c.1108A>G (p.Arg370Gly)
c.1405A>G (p.Arg469Gly)
c.1312A>G (p.Arg438Gly)
c.1348A>G (p.Arg450Gly)
c.1219A>G (p.Arg407Gly)
17g.1754358A>TCA397575697SERPINF2c.1300A>T (p.Arg434Trp)
c.1108A>T (p.Arg370Trp)
c.1405A>T (p.Arg469Trp)
c.1312A>T (p.Arg438Trp)
c.1348A>T (p.Arg450Trp)
c.1219A>T (p.Arg407Trp)
17g.1754359G>ACA8274435SERPINF2c.1301G>A (p.Arg434Lys)
c.1109G>A (p.Arg370Lys)
c.1406G>A (p.Arg469Lys)
c.1313G>A (p.Arg438Lys)
c.1349G>A (p.Arg450Lys)
c.1220G>A (p.Arg407Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1754359G>CCA397575703SERPINF2c.1301G>C (p.Arg434Thr)
c.1109G>C (p.Arg370Thr)
c.1406G>C (p.Arg469Thr)
c.1313G>C (p.Arg438Thr)
c.1349G>C (p.Arg450Thr)
c.1220G>C (p.Arg407Thr)
17g.1754359G=CA2243019150SERPINF2c.1301G= (p.Arg434=)
c.1109G= (p.Arg370=)
c.1406G= (p.Arg469=)
c.1313G= (p.Arg438=)
c.1349G= (p.Arg450=)
c.1220G= (p.Arg407=)
17g.1754359G>TCA397575699SERPINF2c.1301G>T (p.Arg434Met)
c.1109G>T (p.Arg370Met)
c.1406G>T (p.Arg469Met)
c.1313G>T (p.Arg438Met)
c.1349G>T (p.Arg450Met)
c.1220G>T (p.Arg407Met)
17g.1754360G>ACA497389632SERPINF2c.1302G>A (p.Arg434=)
c.1110G>A (p.Arg370=)
c.1407G>A (p.Arg469=)
c.1314G>A (p.Arg438=)
c.1350G>A (p.Arg450=)
c.1221G>A (p.Arg407=)
gnomAD v3 gnomAD v4
17g.1754360G>CCA397575705SERPINF2c.1302G>C (p.Arg434Ser)
c.1110G>C (p.Arg370Ser)
c.1407G>C (p.Arg469Ser)
c.1314G>C (p.Arg438Ser)
c.1350G>C (p.Arg450Ser)
c.1221G>C (p.Arg407Ser)
17g.1754360G>TCA397575707SERPINF2c.1302G>T (p.Arg434Ser)
c.1110G>T (p.Arg370Ser)
c.1407G>T (p.Arg469Ser)
c.1314G>T (p.Arg438Ser)
c.1350G>T (p.Arg450Ser)
c.1221G>T (p.Arg407Ser)
17g.1754361A>CCA397575711SERPINF2c.1303A>C (p.Asn435His)
c.1111A>C (p.Asn371His)
c.1408A>C (p.Asn470His)
c.1315A>C (p.Asn439His)
c.1351A>C (p.Asn451His)
c.1222A>C (p.Asn408His)
17g.1754361A>GCA397575713SERPINF2c.1303A>G (p.Asn435Asp)
c.1111A>G (p.Asn371Asp)
c.1408A>G (p.Asn470Asp)
c.1315A>G (p.Asn439Asp)
c.1351A>G (p.Asn451Asp)
c.1222A>G (p.Asn408Asp)
17g.1754361A>TCA397575718SERPINF2c.1303A>T (p.Asn435Tyr)
c.1111A>T (p.Asn371Tyr)
c.1408A>T (p.Asn470Tyr)
c.1315A>T (p.Asn439Tyr)
c.1351A>T (p.Asn451Tyr)
c.1222A>T (p.Asn408Tyr)
17g.1754362A>CCA397575721SERPINF2c.1304A>C (p.Asn435Thr)
c.1112A>C (p.Asn371Thr)
c.1409A>C (p.Asn470Thr)
c.1316A>C (p.Asn439Thr)
c.1352A>C (p.Asn451Thr)
c.1223A>C (p.Asn408Thr)
17g.1754362A>GCA397575722SERPINF2c.1304A>G (p.Asn435Ser)
c.1112A>G (p.Asn371Ser)
c.1409A>G (p.Asn470Ser)
c.1316A>G (p.Asn439Ser)
c.1352A>G (p.Asn451Ser)
c.1223A>G (p.Asn408Ser)
17g.1754362A>TCA397575723SERPINF2c.1304A>T (p.Asn435Ile)
c.1112A>T (p.Asn371Ile)
c.1409A>T (p.Asn470Ile)
c.1316A>T (p.Asn439Ile)
c.1352A>T (p.Asn451Ile)
c.1223A>T (p.Asn408Ile)
17g.1754363C>ACA397575726SERPINF2c.1305C>A (p.Asn435Lys)
c.1113C>A (p.Asn371Lys)
c.1410C>A (p.Asn470Lys)
c.1317C>A (p.Asn439Lys)
c.1353C>A (p.Asn451Lys)
c.1224C>A (p.Asn408Lys)
17g.1754363C>GCA397575731SERPINF2c.1305C>G (p.Asn435Lys)
c.1113C>G (p.Asn371Lys)
c.1410C>G (p.Asn470Lys)
c.1317C>G (p.Asn439Lys)
c.1353C>G (p.Asn451Lys)
c.1224C>G (p.Asn408Lys)
17g.1754363C>TCA497389634SERPINF2c.1305C>T (p.Asn435=)
c.1113C>T (p.Asn371=)
c.1410C>T (p.Asn470=)
c.1317C>T (p.Asn439=)
c.1353C>T (p.Asn451=)
c.1224C>T (p.Asn408=)
gnomAD v4
17g.1754364C>ACA397575742SERPINF2c.1306C>A (p.Pro436Thr)
c.1114C>A (p.Pro372Thr)
c.1411C>A (p.Pro471Thr)
c.1318C>A (p.Pro440Thr)
c.1354C>A (p.Pro452Thr)
c.1225C>A (p.Pro409Thr)
COSMIC
17g.1754364C>GCA397575741SERPINF2c.1306C>G (p.Pro436Ala)
c.1114C>G (p.Pro372Ala)
c.1411C>G (p.Pro471Ala)
c.1318C>G (p.Pro440Ala)
c.1354C>G (p.Pro452Ala)
c.1225C>G (p.Pro409Ala)
17g.1754364C>TCA397575733SERPINF2c.1306C>T (p.Pro436Ser)
c.1114C>T (p.Pro372Ser)
c.1411C>T (p.Pro471Ser)
c.1318C>T (p.Pro440Ser)
c.1354C>T (p.Pro452Ser)
c.1225C>T (p.Pro409Ser)
17g.1754365C>ACA397575743SERPINF2c.1307C>A (p.Pro436His)
c.1115C>A (p.Pro372His)
c.1412C>A (p.Pro471His)
c.1319C>A (p.Pro440His)
c.1355C>A (p.Pro452His)
c.1226C>A (p.Pro409His)
17g.1754365C=CA2243019154SERPINF2c.1307C= (p.Pro436=)
c.1115C= (p.Pro372=)
c.1412C= (p.Pro471=)
c.1319C= (p.Pro440=)
c.1355C= (p.Pro452=)
c.1226C= (p.Pro409=)
17g.1754365C>GCA397575744SERPINF2c.1307C>G (p.Pro436Arg)
c.1115C>G (p.Pro372Arg)
c.1412C>G (p.Pro471Arg)
c.1319C>G (p.Pro440Arg)
c.1355C>G (p.Pro452Arg)
c.1226C>G (p.Pro409Arg)
17g.1754365C>TCA397575745SERPINF2c.1307C>T (p.Pro436Leu)
c.1115C>T (p.Pro372Leu)
c.1412C>T (p.Pro471Leu)
c.1319C>T (p.Pro440Leu)
c.1355C>T (p.Pro452Leu)
c.1226C>T (p.Pro409Leu)
dbSNP gnomAD v3 gnomAD v4
17g.1754366C>ACA497389638SERPINF2c.1308C>A (p.Pro436=)
c.1116C>A (p.Pro372=)
c.1413C>A (p.Pro471=)
c.1320C>A (p.Pro440=)
c.1356C>A (p.Pro452=)
c.1227C>A (p.Pro409=)
17g.1754366C=CA2243019159SERPINF2c.1308C= (p.Pro436=)
c.1116C= (p.Pro372=)
c.1413C= (p.Pro471=)
c.1320C= (p.Pro440=)
c.1356C= (p.Pro452=)
c.1227C= (p.Pro409=)
17g.1754366C>GCA497389639SERPINF2c.1308C>G (p.Pro436=)
c.1116C>G (p.Pro372=)
c.1413C>G (p.Pro471=)
c.1320C>G (p.Pro440=)
c.1356C>G (p.Pro452=)
c.1227C>G (p.Pro409=)
17g.1754366C>TCA286822143SERPINF2c.1308C>T (p.Pro436=)
c.1116C>T (p.Pro372=)
c.1413C>T (p.Pro471=)
c.1320C>T (p.Pro440=)
c.1356C>T (p.Pro452=)
c.1227C>T (p.Pro409=)
dbSNP gnomAD v2 gnomAD v4
17g.1754367A>CCA397575746SERPINF2c.1309A>C (p.Asn437His)
c.1117A>C (p.Asn373His)
c.1414A>C (p.Asn472His)
c.1321A>C (p.Asn441His)
c.1357A>C (p.Asn453His)
c.1228A>C (p.Asn410His)
17g.1754367A>GCA397575747SERPINF2c.1309A>G (p.Asn437Asp)
c.1117A>G (p.Asn373Asp)
c.1414A>G (p.Asn472Asp)
c.1321A>G (p.Asn441Asp)
c.1357A>G (p.Asn453Asp)
c.1228A>G (p.Asn410Asp)
17g.1754367A>TCA397575748SERPINF2c.1309A>T (p.Asn437Tyr)
c.1117A>T (p.Asn373Tyr)
c.1414A>T (p.Asn472Tyr)
c.1321A>T (p.Asn441Tyr)
c.1357A>T (p.Asn453Tyr)
c.1228A>T (p.Asn410Tyr)
17g.1754368A>CCA397575751SERPINF2c.1310A>C (p.Asn437Thr)
c.1118A>C (p.Asn373Thr)
c.1415A>C (p.Asn472Thr)
c.1322A>C (p.Asn441Thr)
c.1358A>C (p.Asn453Thr)
c.1229A>C (p.Asn410Thr)
17g.1754368A>GCA397575749SERPINF2c.1310A>G (p.Asn437Ser)
c.1118A>G (p.Asn373Ser)
c.1415A>G (p.Asn472Ser)
c.1322A>G (p.Asn441Ser)
c.1358A>G (p.Asn453Ser)
c.1229A>G (p.Asn410Ser)
17g.1754368A>TCA397575750SERPINF2c.1310A>T (p.Asn437Ile)
c.1118A>T (p.Asn373Ile)
c.1415A>T (p.Asn472Ile)
c.1322A>T (p.Asn441Ile)
c.1358A>T (p.Asn453Ile)
c.1229A>T (p.Asn410Ile)
17g.1754369C>ACA397575752SERPINF2c.1311C>A (p.Asn437Lys)
c.1119C>A (p.Asn373Lys)
c.1416C>A (p.Asn472Lys)
c.1323C>A (p.Asn441Lys)
c.1359C>A (p.Asn453Lys)
c.1230C>A (p.Asn410Lys)
17g.1754369C>GCA397575754SERPINF2c.1311C>G (p.Asn437Lys)
c.1119C>G (p.Asn373Lys)
c.1416C>G (p.Asn472Lys)
c.1323C>G (p.Asn441Lys)
c.1359C>G (p.Asn453Lys)
c.1230C>G (p.Asn410Lys)
gnomAD v4
17g.1754369C>TCA497389643SERPINF2c.1311C>T (p.Asn437=)
c.1119C>T (p.Asn373=)
c.1416C>T (p.Asn472=)
c.1323C>T (p.Asn441=)
c.1359C>T (p.Asn453=)
c.1230C>T (p.Asn410=)
17g.1754370C>ACA397575756SERPINF2c.1312C>A (p.Pro438Thr)
c.1120C>A (p.Pro374Thr)
c.1417C>A (p.Pro473Thr)
c.1324C>A (p.Pro442Thr)
c.1360C>A (p.Pro454Thr)
c.1231C>A (p.Pro411Thr)
dbSNP gnomAD v2 gnomAD v4
17g.1754370C=CA2243019165SERPINF2c.1312C= (p.Pro438=)
c.1120C= (p.Pro374=)
c.1417C= (p.Pro473=)
c.1324C= (p.Pro442=)
c.1360C= (p.Pro454=)
c.1231C= (p.Pro411=)
17g.1754370C>GCA397575761SERPINF2c.1312C>G (p.Pro438Ala)
c.1120C>G (p.Pro374Ala)
c.1417C>G (p.Pro473Ala)
c.1324C>G (p.Pro442Ala)
c.1360C>G (p.Pro454Ala)
c.1231C>G (p.Pro411Ala)
17g.1754370C>TCA397575762SERPINF2c.1312C>T (p.Pro438Ser)
c.1120C>T (p.Pro374Ser)
c.1417C>T (p.Pro473Ser)
c.1324C>T (p.Pro442Ser)
c.1360C>T (p.Pro454Ser)
c.1231C>T (p.Pro411Ser)
17g.1754371C>ACA397575766SERPINF2c.1313C>A (p.Pro438His)
c.1121C>A (p.Pro374His)
c.1418C>A (p.Pro473His)
c.1325C>A (p.Pro442His)
c.1361C>A (p.Pro454His)
c.1232C>A (p.Pro411His)
17g.1754371C=CA2243019168SERPINF2c.1313C= (p.Pro438=)
c.1121C= (p.Pro374=)
c.1418C= (p.Pro473=)
c.1325C= (p.Pro442=)
c.1361C= (p.Pro454=)
c.1232C= (p.Pro411=)
17g.1754371C>GCA397575770SERPINF2c.1313C>G (p.Pro438Arg)
c.1121C>G (p.Pro374Arg)
c.1418C>G (p.Pro473Arg)
c.1325C>G (p.Pro442Arg)
c.1361C>G (p.Pro454Arg)
c.1232C>G (p.Pro411Arg)
gnomAD v4
17g.1754371C>TCA286822174SERPINF2c.1313C>T (p.Pro438Leu)
c.1121C>T (p.Pro374Leu)
c.1418C>T (p.Pro473Leu)
c.1325C>T (p.Pro442Leu)
c.1361C>T (p.Pro454Leu)
c.1232C>T (p.Pro411Leu)
dbSNP gnomAD v4
17g.1754372C>ACA497389647SERPINF2c.1314C>A (p.Pro438=)
c.1122C>A (p.Pro374=)
c.1419C>A (p.Pro473=)
c.1326C>A (p.Pro442=)
c.1362C>A (p.Pro454=)
c.1233C>A (p.Pro411=)
17g.1754372C>GCA497389648SERPINF2c.1314C>G (p.Pro438=)
c.1122C>G (p.Pro374=)
c.1419C>G (p.Pro473=)
c.1326C>G (p.Pro442=)
c.1362C>G (p.Pro454=)
c.1233C>G (p.Pro411=)
17g.1754372C>TCA497389649SERPINF2c.1314C>T (p.Pro438=)
c.1122C>T (p.Pro374=)
c.1419C>T (p.Pro473=)
c.1326C>T (p.Pro442=)
c.1362C>T (p.Pro454=)
c.1233C>T (p.Pro411=)
17g.1754373A>CCA397575772SERPINF2c.1315A>C (p.Ser439Arg)
c.1123A>C (p.Ser375Arg)
c.1420A>C (p.Ser474Arg)
c.1327A>C (p.Ser443Arg)
c.1363A>C (p.Ser455Arg)
c.1234A>C (p.Ser412Arg)
17g.1754373A>GCA397575773SERPINF2c.1315A>G (p.Ser439Gly)
c.1123A>G (p.Ser375Gly)
c.1420A>G (p.Ser474Gly)
c.1327A>G (p.Ser443Gly)
c.1363A>G (p.Ser455Gly)
c.1234A>G (p.Ser412Gly)
17g.1754373A>TCA397575775SERPINF2c.1315A>T (p.Ser439Cys)
c.1123A>T (p.Ser375Cys)
c.1420A>T (p.Ser474Cys)
c.1327A>T (p.Ser443Cys)
c.1363A>T (p.Ser455Cys)
c.1234A>T (p.Ser412Cys)
17g.1754374G>ACA397575779SERPINF2c.1316G>A (p.Ser439Asn)
c.1124G>A (p.Ser375Asn)
c.1421G>A (p.Ser474Asn)
c.1328G>A (p.Ser443Asn)
c.1364G>A (p.Ser455Asn)
c.1235G>A (p.Ser412Asn)
17g.1754374G>CCA397575781SERPINF2c.1316G>C (p.Ser439Thr)
c.1124G>C (p.Ser375Thr)
c.1421G>C (p.Ser474Thr)
c.1328G>C (p.Ser443Thr)
c.1364G>C (p.Ser455Thr)
c.1235G>C (p.Ser412Thr)
17g.1754374G>TCA397575783SERPINF2c.1316G>T (p.Ser439Ile)
c.1124G>T (p.Ser375Ile)
c.1421G>T (p.Ser474Ile)
c.1328G>T (p.Ser443Ile)
c.1364G>T (p.Ser455Ile)
c.1235G>T (p.Ser412Ile)
17g.1754375T>ACA397575787SERPINF2c.1317T>A (p.Ser439Arg)
c.1125T>A (p.Ser375Arg)
c.1422T>A (p.Ser474Arg)
c.1329T>A (p.Ser443Arg)
c.1365T>A (p.Ser455Arg)
c.1236T>A (p.Ser412Arg)
COSMIC
17g.1754375T>CCA497389652SERPINF2c.1317T>C (p.Ser439=)
c.1125T>C (p.Ser375=)
c.1422T>C (p.Ser474=)
c.1329T>C (p.Ser443=)
c.1365T>C (p.Ser455=)
c.1236T>C (p.Ser412=)
gnomAD v4
17g.1754375T>GCA397575790SERPINF2c.1317T>G (p.Ser439Arg)
c.1125T>G (p.Ser375Arg)
c.1422T>G (p.Ser474Arg)
c.1329T>G (p.Ser443Arg)
c.1365T>G (p.Ser455Arg)
c.1236T>G (p.Ser412Arg)
gnomAD v4
17g.1754376delCA2635269594SERPINF2c.1318del (p.Ala440HisfsTer21)
c.1126del (p.Ala376HisfsTer21)
c.1423del (p.Ala475HisfsTer21)
c.1330del (p.Ala444HisfsTer21)
c.1366del (p.Ala456HisfsTer21)
c.1237del (p.Ala413HisfsTer21)
gnomAD v4
17g.1754376G>ACA397575794SERPINF2c.1318G>A (p.Ala440Thr)
c.1126G>A (p.Ala376Thr)
c.1423G>A (p.Ala475Thr)
c.1330G>A (p.Ala444Thr)
c.1366G>A (p.Ala456Thr)
c.1237G>A (p.Ala413Thr)
17g.1754376G>CCA397575796SERPINF2c.1318G>C (p.Ala440Pro)
c.1126G>C (p.Ala376Pro)
c.1423G>C (p.Ala475Pro)
c.1330G>C (p.Ala444Pro)
c.1366G>C (p.Ala456Pro)
c.1237G>C (p.Ala413Pro)
17g.1754376G>TCA397575798SERPINF2c.1318G>T (p.Ala440Ser)
c.1126G>T (p.Ala376Ser)
c.1423G>T (p.Ala475Ser)
c.1330G>T (p.Ala444Ser)
c.1366G>T (p.Ala456Ser)
c.1237G>T (p.Ala413Ser)
17g.1754377C>ACA397575806SERPINF2c.1319C>A (p.Ala440Glu)
c.1127C>A (p.Ala376Glu)
c.1424C>A (p.Ala475Glu)
c.1331C>A (p.Ala444Glu)
c.1367C>A (p.Ala456Glu)
c.1238C>A (p.Ala413Glu)
17g.1754377C>GCA397575804SERPINF2c.1319C>G (p.Ala440Gly)
c.1127C>G (p.Ala376Gly)
c.1424C>G (p.Ala475Gly)
c.1331C>G (p.Ala444Gly)
c.1367C>G (p.Ala456Gly)
c.1238C>G (p.Ala413Gly)
gnomAD v4
17g.1754377C>TCA397575802SERPINF2c.1319C>T (p.Ala440Val)
c.1127C>T (p.Ala376Val)
c.1424C>T (p.Ala475Val)
c.1331C>T (p.Ala444Val)
c.1367C>T (p.Ala456Val)
c.1238C>T (p.Ala413Val)
17g.1754378A>CCA497389654SERPINF2c.1320A>C (p.Ala440=)
c.1128A>C (p.Ala376=)
c.1425A>C (p.Ala475=)
c.1332A>C (p.Ala444=)
c.1368A>C (p.Ala456=)
c.1239A>C (p.Ala413=)
17g.1754378A>GCA497389655SERPINF2c.1320A>G (p.Ala440=)
c.1128A>G (p.Ala376=)
c.1425A>G (p.Ala475=)
c.1332A>G (p.Ala444=)
c.1368A>G (p.Ala456=)
c.1239A>G (p.Ala413=)
17g.1754378A>TCA497389656SERPINF2c.1320A>T (p.Ala440=)
c.1128A>T (p.Ala376=)
c.1425A>T (p.Ala475=)
c.1332A>T (p.Ala444=)
c.1368A>T (p.Ala456=)
c.1239A>T (p.Ala413=)
17g.1754379C>ACA397575810SERPINF2c.1321C>A (p.Pro441Thr)
c.1129C>A (p.Pro377Thr)
c.1426C>A (p.Pro476Thr)
c.1333C>A (p.Pro445Thr)
c.1369C>A (p.Pro457Thr)
c.1240C>A (p.Pro414Thr)
dbSNP
17g.1754379C=CA2243019175SERPINF2c.1321C= (p.Pro441=)
c.1129C= (p.Pro377=)
c.1426C= (p.Pro476=)
c.1333C= (p.Pro445=)
c.1369C= (p.Pro457=)
c.1240C= (p.Pro414=)
17g.1754379C>GCA397575814SERPINF2c.1321C>G (p.Pro441Ala)
c.1129C>G (p.Pro377Ala)
c.1426C>G (p.Pro476Ala)
c.1333C>G (p.Pro445Ala)
c.1369C>G (p.Pro457Ala)
c.1240C>G (p.Pro414Ala)
17g.1754379C>TCA397575812SERPINF2c.1321C>T (p.Pro441Ser)
c.1129C>T (p.Pro377Ser)
c.1426C>T (p.Pro476Ser)
c.1333C>T (p.Pro445Ser)
c.1369C>T (p.Pro457Ser)
c.1240C>T (p.Pro414Ser)
dbSNP
17g.1754380C>ACA397575816SERPINF2c.1322C>A (p.Pro441Gln)
c.1130C>A (p.Pro377Gln)
c.1427C>A (p.Pro476Gln)
c.1334C>A (p.Pro445Gln)
c.1370C>A (p.Pro457Gln)
c.1241C>A (p.Pro414Gln)
17g.1754380C=CA2243019179SERPINF2c.1322C= (p.Pro441=)
c.1130C= (p.Pro377=)
c.1427C= (p.Pro476=)
c.1334C= (p.Pro445=)
c.1370C= (p.Pro457=)
c.1241C= (p.Pro414=)
17g.1754380C>GCA397575820SERPINF2c.1322C>G (p.Pro441Arg)
c.1130C>G (p.Pro377Arg)
c.1427C>G (p.Pro476Arg)
c.1334C>G (p.Pro445Arg)
c.1370C>G (p.Pro457Arg)
c.1241C>G (p.Pro414Arg)
17g.1754380C>TCA8274436SERPINF2c.1322C>T (p.Pro441Leu)
c.1130C>T (p.Pro377Leu)
c.1427C>T (p.Pro476Leu)
c.1334C>T (p.Pro445Leu)
c.1370C>T (p.Pro457Leu)
c.1241C>T (p.Pro414Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1754381G>ACA286822184SERPINF2c.1323G>A (p.Pro441=)
c.1131G>A (p.Pro377=)
c.1428G>A (p.Pro476=)
c.1335G>A (p.Pro445=)
c.1371G>A (p.Pro457=)
c.1242G>A (p.Pro414=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1754381G>CCA497389660SERPINF2c.1323G>C (p.Pro441=)
c.1131G>C (p.Pro377=)
c.1428G>C (p.Pro476=)
c.1335G>C (p.Pro445=)
c.1371G>C (p.Pro457=)
c.1242G>C (p.Pro414=)
gnomAD v4
17g.1754381G=CA2243019186SERPINF2c.1323G= (p.Pro441=)
c.1131G= (p.Pro377=)
c.1428G= (p.Pro476=)
c.1335G= (p.Pro445=)
c.1371G= (p.Pro457=)
c.1242G= (p.Pro414=)
17g.1754381G>TCA497389661SERPINF2c.1323G>T (p.Pro441=)
c.1131G>T (p.Pro377=)
c.1428G>T (p.Pro476=)
c.1335G>T (p.Pro445=)
c.1371G>T (p.Pro457=)
c.1242G>T (p.Pro414=)
17g.1754382C>ACA497389662SERPINF2c.1324C>A (p.Arg442=)
c.1132C>A (p.Arg378=)
c.1429C>A (p.Arg477=)
c.1336C>A (p.Arg446=)
c.1372C>A (p.Arg458=)
c.1243C>A (p.Arg415=)
17g.1754382C=CA2243019190SERPINF2c.1324C= (p.Arg442=)
c.1132C= (p.Arg378=)
c.1429C= (p.Arg477=)
c.1336C= (p.Arg446=)
c.1372C= (p.Arg458=)
c.1243C= (p.Arg415=)
17g.1754382C>GCA397575824SERPINF2c.1324C>G (p.Arg442Gly)
c.1132C>G (p.Arg378Gly)
c.1429C>G (p.Arg477Gly)
c.1336C>G (p.Arg446Gly)
c.1372C>G (p.Arg458Gly)
c.1243C>G (p.Arg415Gly)
17g.1754382C>TCA8274437SERPINF2c.1324C>T (p.Arg442Trp)
c.1132C>T (p.Arg378Trp)
c.1429C>T (p.Arg477Trp)
c.1336C>T (p.Arg446Trp)
c.1372C>T (p.Arg458Trp)
c.1243C>T (p.Arg415Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1754383G>ACA286822186SERPINF2c.1325G>A (p.Arg442Gln)
c.1133G>A (p.Arg378Gln)
c.1430G>A (p.Arg477Gln)
c.1337G>A (p.Arg446Gln)
c.1373G>A (p.Arg458Gln)
c.1244G>A (p.Arg415Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1754383G>CCA397575828SERPINF2c.1325G>C (p.Arg442Pro)
c.1133G>C (p.Arg378Pro)
c.1430G>C (p.Arg477Pro)
c.1337G>C (p.Arg446Pro)
c.1373G>C (p.Arg458Pro)
c.1244G>C (p.Arg415Pro)
17g.1754383G=CA2243019195SERPINF2c.1325G= (p.Arg442=)
c.1133G= (p.Arg378=)
c.1430G= (p.Arg477=)
c.1337G= (p.Arg446=)
c.1373G= (p.Arg458=)
c.1244G= (p.Arg415=)
17g.1754383G>TCA397575830SERPINF2c.1325G>T (p.Arg442Leu)
c.1133G>T (p.Arg378Leu)
c.1430G>T (p.Arg477Leu)
c.1337G>T (p.Arg446Leu)
c.1373G>T (p.Arg458Leu)
c.1244G>T (p.Arg415Leu)
17g.1754384G>ACA497389666SERPINF2c.1326G>A (p.Arg442=)
c.1134G>A (p.Arg378=)
c.1431G>A (p.Arg477=)
c.1338G>A (p.Arg446=)
c.1374G>A (p.Arg458=)
c.1245G>A (p.Arg415=)
17g.1754384G>CCA8274438SERPINF2c.1326G>C (p.Arg442=)
c.1134G>C (p.Arg378=)
c.1431G>C (p.Arg477=)
c.1338G>C (p.Arg446=)
c.1374G>C (p.Arg458=)
c.1245G>C (p.Arg415=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1754384G=CA2243019198SERPINF2c.1326G= (p.Arg442=)
c.1134G= (p.Arg378=)
c.1431G= (p.Arg477=)
c.1338G= (p.Arg446=)
c.1374G= (p.Arg458=)
c.1245G= (p.Arg415=)
17g.1754384G>TCA497389667SERPINF2c.1326G>T (p.Arg442=)
c.1134G>T (p.Arg378=)
c.1431G>T (p.Arg477=)
c.1338G>T (p.Arg446=)
c.1374G>T (p.Arg458=)
c.1245G>T (p.Arg415=)
17g.1754385G>ACA397575834SERPINF2c.1327G>A (p.Glu443Lys)
c.1135G>A (p.Glu379Lys)
c.1432G>A (p.Glu478Lys)
c.1339G>A (p.Glu447Lys)
c.1375G>A (p.Glu459Lys)
c.1246G>A (p.Glu416Lys)
17g.1754385G>CCA397575837SERPINF2c.1327G>C (p.Glu443Gln)
c.1135G>C (p.Glu379Gln)
c.1432G>C (p.Glu478Gln)
c.1339G>C (p.Glu447Gln)
c.1375G>C (p.Glu459Gln)
c.1246G>C (p.Glu416Gln)
17g.1754385G>TCA397575840SERPINF2c.1327G>T (p.Glu443Ter)
c.1135G>T (p.Glu379Ter)
c.1432G>T (p.Glu478Ter)
c.1339G>T (p.Glu447Ter)
c.1375G>T (p.Glu459Ter)
c.1246G>T (p.Glu416Ter)
17g.1754386A>CCA397575844SERPINF2c.1328A>C (p.Glu443Ala)
c.1136A>C (p.Glu379Ala)
c.1433A>C (p.Glu478Ala)
c.1340A>C (p.Glu447Ala)
c.1376A>C (p.Glu459Ala)
c.1247A>C (p.Glu416Ala)
17g.1754386A>GCA397575845SERPINF2c.1328A>G (p.Glu443Gly)
c.1136A>G (p.Glu379Gly)
c.1433A>G (p.Glu478Gly)
c.1340A>G (p.Glu447Gly)
c.1376A>G (p.Glu459Gly)
c.1247A>G (p.Glu416Gly)
17g.1754386A>TCA397575846SERPINF2c.1328A>T (p.Glu443Val)
c.1136A>T (p.Glu379Val)
c.1433A>T (p.Glu478Val)
c.1340A>T (p.Glu447Val)
c.1376A>T (p.Glu459Val)
c.1247A>T (p.Glu416Val)
17g.1754387G>ACA8274439SERPINF2c.1329G>A (p.Glu443=)
c.1137G>A (p.Glu379=)
c.1434G>A (p.Glu478=)
c.1341G>A (p.Glu447=)
c.1377G>A (p.Glu459=)
c.1248G>A (p.Glu416=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.1754387G>CCA397575848SERPINF2c.1329G>C (p.Glu443Asp)
c.1137G>C (p.Glu379Asp)
c.1434G>C (p.Glu478Asp)
c.1341G>C (p.Glu447Asp)
c.1377G>C (p.Glu459Asp)
c.1248G>C (p.Glu416Asp)
17g.1754387G=CA2243019202SERPINF2c.1329G= (p.Glu443=)
c.1137G= (p.Glu379=)
c.1434G= (p.Glu478=)
c.1341G= (p.Glu447=)
c.1377G= (p.Glu459=)
c.1248G= (p.Glu416=)
17g.1754387G>TCA397575847SERPINF2c.1329G>T (p.Glu443Asp)
c.1137G>T (p.Glu379Asp)
c.1434G>T (p.Glu478Asp)
c.1341G>T (p.Glu447Asp)
c.1377G>T (p.Glu459Asp)
c.1248G>T (p.Glu416Asp)
17g.1754388C>ACA397575852SERPINF2c.1330C>A (p.Leu444Ile)
c.1138C>A (p.Leu380Ile)
c.1435C>A (p.Leu479Ile)
c.1342C>A (p.Leu448Ile)
c.1378C>A (p.Leu460Ile)
c.1249C>A (p.Leu417Ile)
17g.1754388C>GCA397575854SERPINF2c.1330C>G (p.Leu444Val)
c.1138C>G (p.Leu380Val)
c.1435C>G (p.Leu479Val)
c.1342C>G (p.Leu448Val)
c.1378C>G (p.Leu460Val)
c.1249C>G (p.Leu417Val)
17g.1754388C>TCA397575856SERPINF2c.1330C>T (p.Leu444Phe)
c.1138C>T (p.Leu380Phe)
c.1435C>T (p.Leu479Phe)
c.1342C>T (p.Leu448Phe)
c.1378C>T (p.Leu460Phe)
c.1249C>T (p.Leu417Phe)
17g.1754389T>ACA397575859SERPINF2c.1331T>A (p.Leu444His)
c.1139T>A (p.Leu380His)
c.1436T>A (p.Leu479His)
c.1343T>A (p.Leu448His)
c.1379T>A (p.Leu460His)
c.1250T>A (p.Leu417His)
17g.1754389T>CCA397575862SERPINF2c.1331T>C (p.Leu444Pro)
c.1139T>C (p.Leu380Pro)
c.1436T>C (p.Leu479Pro)
c.1343T>C (p.Leu448Pro)
c.1379T>C (p.Leu460Pro)
c.1250T>C (p.Leu417Pro)
17g.1754389T>GCA397575865SERPINF2c.1331T>G (p.Leu444Arg)
c.1139T>G (p.Leu380Arg)
c.1436T>G (p.Leu479Arg)
c.1343T>G (p.Leu448Arg)
c.1379T>G (p.Leu460Arg)
c.1250T>G (p.Leu417Arg)
dbSNP gnomAD v2 gnomAD v4
17g.1754389T=CA2243019208SERPINF2c.1331T= (p.Leu444=)
c.1139T= (p.Leu380=)
c.1436T= (p.Leu479=)
c.1343T= (p.Leu448=)
c.1379T= (p.Leu460=)
c.1250T= (p.Leu417=)

Number of alleles fetched