Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197055728T>A | CA422667769 | F13B | c.1341A>T (p.Pro447=) c.96A>T (p.Pro32=) c.1338A>T (p.Pro446=) c.1245A>T (p.Pro415=) c.1197A>T (p.Pro399=) | |
1 | g.197055728T>C | CA1308351 | F13B | c.1341A>G (p.Pro447=) c.96A>G (p.Pro32=) c.1338A>G (p.Pro446=) c.1245A>G (p.Pro415=) c.1197A>G (p.Pro399=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055728T>G | CA422667770 | F13B | c.1341A>C (p.Pro447=) c.96A>C (p.Pro32=) c.1338A>C (p.Pro446=) c.1245A>C (p.Pro415=) c.1197A>C (p.Pro399=) | |
1 | g.197055728T= | CA1141244580 | F13B | c.1341A= (p.Pro447=) c.96A= (p.Pro32=) c.1338A= (p.Pro446=) c.1245A= (p.Pro415=) c.1197A= (p.Pro399=) | |
1 | g.197055729G>A | CA344000916 | F13B | c.1340C>T (p.Pro447Leu) c.95C>T (p.Pro32Leu) c.1337C>T (p.Pro446Leu) c.1244C>T (p.Pro415Leu) c.1196C>T (p.Pro399Leu) | gnomAD v4 COSMIC |
1 | g.197055729G>C | CA344000918 | F13B | c.1340C>G (p.Pro447Arg) c.95C>G (p.Pro32Arg) c.1337C>G (p.Pro446Arg) c.1244C>G (p.Pro415Arg) c.1196C>G (p.Pro399Arg) | |
1 | g.197055729G>T | CA344000919 | F13B | c.1340C>A (p.Pro447Gln) c.95C>A (p.Pro32Gln) c.1337C>A (p.Pro446Gln) c.1244C>A (p.Pro415Gln) c.1196C>A (p.Pro399Gln) | |
1 | g.197055729_197055732delinsGGGG | CA1140532807 | F13B | c.1337_1340delinsCCCC (p.Ser446=) c.92_95delinsCCCC (p.Ser31=) c.1334_1337delinsCCCC (p.Ser445=) c.1241_1244delinsCCCC (p.Ser414=) c.1193_1196delinsCCCC (p.Ser398=) | |
1 | g.197055732dup | CA35873302 | F13B | c.1340dup (p.Pro448ThrfsTer10) c.95dup (p.Pro33ThrfsTer10) c.1337dup (p.Pro447ThrfsTer10) c.1244dup (p.Pro416ThrfsTer10) c.1196dup (p.Pro400ThrfsTer10) | dbSNP |
1 | g.197055730G>A | CA344000921 | F13B | c.1339C>T (p.Pro447Ser) c.94C>T (p.Pro32Ser) c.1336C>T (p.Pro446Ser) c.1243C>T (p.Pro415Ser) c.1195C>T (p.Pro399Ser) | gnomAD v4 |
1 | g.197055730G>C | CA344000923 | F13B | c.1339C>G (p.Pro447Ala) c.94C>G (p.Pro32Ala) c.1336C>G (p.Pro446Ala) c.1243C>G (p.Pro415Ala) c.1195C>G (p.Pro399Ala) | |
1 | g.197055730G>T | CA344000924 | F13B | c.1339C>A (p.Pro447Thr) c.94C>A (p.Pro32Thr) c.1336C>A (p.Pro446Thr) c.1243C>A (p.Pro415Thr) c.1195C>A (p.Pro399Thr) | gnomAD v4 |
1 | g.197055731G>A | CA422667771 | F13B | c.1338C>T (p.Ser446=) c.93C>T (p.Ser31=) c.1335C>T (p.Ser445=) c.1242C>T (p.Ser414=) c.1194C>T (p.Ser398=) | |
1 | g.197055731G>C | CA422667772 | F13B | c.1338C>G (p.Ser446=) c.93C>G (p.Ser31=) c.1335C>G (p.Ser445=) c.1242C>G (p.Ser414=) c.1194C>G (p.Ser398=) | dbSNP |
1 | g.197055731G= | CA1217911206 | F13B | c.1338C= (p.Ser446=) c.93C= (p.Ser31=) c.1335C= (p.Ser445=) c.1242C= (p.Ser414=) c.1194C= (p.Ser398=) | |
1 | g.197055731G>T | CA422667773 | F13B | c.1338C>A (p.Ser446=) c.93C>A (p.Ser31=) c.1335C>A (p.Ser445=) c.1242C>A (p.Ser414=) c.1194C>A (p.Ser398=) | gnomAD v4 |
1 | g.197055732G>A | CA344000927 | F13B | c.1337C>T (p.Ser446Phe) c.92C>T (p.Ser31Phe) c.1334C>T (p.Ser445Phe) c.1241C>T (p.Ser414Phe) c.1193C>T (p.Ser398Phe) | COSMIC |
1 | g.197055732G>C | CA344000930 | F13B | c.1337C>G (p.Ser446Cys) c.92C>G (p.Ser31Cys) c.1334C>G (p.Ser445Cys) c.1241C>G (p.Ser414Cys) c.1193C>G (p.Ser398Cys) | |
1 | g.197055732G= | CA1217911207 | F13B | c.1337C= (p.Ser446=) c.92C= (p.Ser31=) c.1334C= (p.Ser445=) c.1241C= (p.Ser414=) c.1193C= (p.Ser398=) | |
1 | g.197055732G>T | CA344000931 | F13B | c.1337C>A (p.Ser446Tyr) c.92C>A (p.Ser31Tyr) c.1334C>A (p.Ser445Tyr) c.1241C>A (p.Ser414Tyr) c.1193C>A (p.Ser398Tyr) | dbSNP gnomAD v4 |
1 | g.197055732_197055733delinsGA | CA1217911208 | F13B | c.1336_1337delinsTC (p.Ser446=) c.91_92delinsTC (p.Ser31=) c.1333_1334delinsTC (p.Ser445=) c.1240_1241delinsTC (p.Ser414=) c.1192_1193delinsTC (p.Ser398=) | |
1 | g.197055733del | CA916374591 | F13B | c.1336del (p.Ser446ProfsTer16) c.91del (p.Ser31ProfsTer16) c.1333del (p.Ser445ProfsTer16) c.1240del (p.Ser414ProfsTer16) c.1192del (p.Ser398ProfsTer16) | dbSNP gnomAD v4 |
1 | g.197055733A>C | CA344000933 | F13B | c.1336T>G (p.Ser446Ala) c.91T>G (p.Ser31Ala) c.1333T>G (p.Ser445Ala) c.1240T>G (p.Ser414Ala) c.1192T>G (p.Ser398Ala) | |
1 | g.197055733A>G | CA344000937 | F13B | c.1336T>C (p.Ser446Pro) c.91T>C (p.Ser31Pro) c.1333T>C (p.Ser445Pro) c.1240T>C (p.Ser414Pro) c.1192T>C (p.Ser398Pro) | gnomAD v4 |
1 | g.197055733A>T | CA344000935 | F13B | c.1336T>A (p.Ser446Thr) c.91T>A (p.Ser31Thr) c.1333T>A (p.Ser445Thr) c.1240T>A (p.Ser414Thr) c.1192T>A (p.Ser398Thr) | |
1 | g.197055734T>A | CA422667774 | F13B | c.1335A>T (p.Ser445=) c.90A>T (p.Ser30=) c.1332A>T (p.Ser444=) c.1239A>T (p.Ser413=) c.1191A>T (p.Ser397=) | |
1 | g.197055734T>C | CA422667776 | F13B | c.1335A>G (p.Ser445=) c.90A>G (p.Ser30=) c.1332A>G (p.Ser444=) c.1239A>G (p.Ser413=) c.1191A>G (p.Ser397=) | |
1 | g.197055734T>G | CA422667775 | F13B | c.1335A>C (p.Ser445=) c.90A>C (p.Ser30=) c.1332A>C (p.Ser444=) c.1239A>C (p.Ser413=) c.1191A>C (p.Ser397=) | |
1 | g.197055735G>A | CA344000938 | F13B | c.1334C>T (p.Ser445Leu) c.89C>T (p.Ser30Leu) c.1331C>T (p.Ser444Leu) c.1238C>T (p.Ser413Leu) c.1190C>T (p.Ser397Leu) | |
1 | g.197055735G>C | CA344000940 | F13B | c.1334C>G (p.Ser445Ter) c.89C>G (p.Ser30Ter) c.1331C>G (p.Ser444Ter) c.1238C>G (p.Ser413Ter) c.1190C>G (p.Ser397Ter) | |
1 | g.197055735G>T | CA344000941 | F13B | c.1334C>A (p.Ser445Ter) c.89C>A (p.Ser30Ter) c.1331C>A (p.Ser444Ter) c.1238C>A (p.Ser413Ter) c.1190C>A (p.Ser397Ter) | gnomAD v4 |
1 | g.197055736A= | CA1217911209 | F13B | c.1333T= (p.Ser445=) c.88T= (p.Ser30=) c.1330T= (p.Ser444=) c.1237T= (p.Ser413=) c.1189T= (p.Ser397=) | |
1 | g.197055736A>C | CA344000945 | F13B | c.1333T>G (p.Ser445Ala) c.88T>G (p.Ser30Ala) c.1330T>G (p.Ser444Ala) c.1237T>G (p.Ser413Ala) c.1189T>G (p.Ser397Ala) | dbSNP gnomAD v4 |
1 | g.197055736A>G | CA344000948 | F13B | c.1333T>C (p.Ser445Pro) c.88T>C (p.Ser30Pro) c.1330T>C (p.Ser444Pro) c.1237T>C (p.Ser413Pro) c.1189T>C (p.Ser397Pro) | |
1 | g.197055736A>T | CA344000949 | F13B | c.1333T>A (p.Ser445Thr) c.88T>A (p.Ser30Thr) c.1330T>A (p.Ser444Thr) c.1237T>A (p.Ser413Thr) c.1189T>A (p.Ser397Thr) | |
1 | g.197055737_197055739del | CA2574105144 | F13B | c.1331_1333del (p.Trp444del) c.86_88del (p.Trp29del) c.1328_1330del (p.Trp443del) c.1235_1237del (p.Trp412del) c.1187_1189del (p.Trp396del) | |
1 | g.197055737C>A | CA344000950 | F13B | c.1332G>T (p.Trp444Cys) c.87G>T (p.Trp29Cys) c.1329G>T (p.Trp443Cys) c.1236G>T (p.Trp412Cys) c.1188G>T (p.Trp396Cys) | |
1 | g.197055737C>G | CA344000951 | F13B | c.1332G>C (p.Trp444Cys) c.87G>C (p.Trp29Cys) c.1329G>C (p.Trp443Cys) c.1236G>C (p.Trp412Cys) c.1188G>C (p.Trp396Cys) | |
1 | g.197055737C>T | CA344000952 | F13B | c.1332G>A (p.Trp444Ter) c.87G>A (p.Trp29Ter) c.1329G>A (p.Trp443Ter) c.1236G>A (p.Trp412Ter) c.1188G>A (p.Trp396Ter) | |
1 | g.197055738C>A | CA344000955 | F13B | c.1331G>T (p.Trp444Leu) c.86G>T (p.Trp29Leu) c.1328G>T (p.Trp443Leu) c.1235G>T (p.Trp412Leu) c.1187G>T (p.Trp396Leu) | |
1 | g.197055738C>G | CA344000957 | F13B | c.1331G>C (p.Trp444Ser) c.86G>C (p.Trp29Ser) c.1328G>C (p.Trp443Ser) c.1235G>C (p.Trp412Ser) c.1187G>C (p.Trp396Ser) | |
1 | g.197055738C>T | CA344000954 | F13B | c.1331G>A (p.Trp444Ter) c.86G>A (p.Trp29Ter) c.1328G>A (p.Trp443Ter) c.1235G>A (p.Trp412Ter) c.1187G>A (p.Trp396Ter) | |
1 | g.197055739A>C | CA344000958 | F13B | c.1330T>G (p.Trp444Gly) c.85T>G (p.Trp29Gly) c.1327T>G (p.Trp443Gly) c.1234T>G (p.Trp412Gly) c.1186T>G (p.Trp396Gly) | |
1 | g.197055739A>G | CA344000961 | F13B | c.1330T>C (p.Trp444Arg) c.85T>C (p.Trp29Arg) c.1327T>C (p.Trp443Arg) c.1234T>C (p.Trp412Arg) c.1186T>C (p.Trp396Arg) | |
1 | g.197055739A>T | CA344000962 | F13B | c.1330T>A (p.Trp444Arg) c.85T>A (p.Trp29Arg) c.1327T>A (p.Trp443Arg) c.1234T>A (p.Trp412Arg) c.1186T>A (p.Trp396Arg) | |
1 | g.197055740T>A | CA344000963 | F13B | c.1329A>T (p.Lys443Asn) c.84A>T (p.Lys28Asn) c.1326A>T (p.Lys442Asn) c.1233A>T (p.Lys411Asn) c.1185A>T (p.Lys395Asn) | |
1 | g.197055740T>C | CA35873304 | F13B | c.1329A>G (p.Lys443=) c.84A>G (p.Lys28=) c.1326A>G (p.Lys442=) c.1233A>G (p.Lys411=) c.1185A>G (p.Lys395=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055740T>G | CA344000967 | F13B | c.1329A>C (p.Lys443Asn) c.84A>C (p.Lys28Asn) c.1326A>C (p.Lys442Asn) c.1233A>C (p.Lys411Asn) c.1185A>C (p.Lys395Asn) | |
1 | g.197055740T= | CA1140604397 | F13B | c.1329A= (p.Lys443=) c.84A= (p.Lys28=) c.1326A= (p.Lys442=) c.1233A= (p.Lys411=) c.1185A= (p.Lys395=) | |
1 | g.197055743del | CA2571202990 | F13B | c.1329del (p.Lys443AsnfsTer19) c.84del (p.Lys28AsnfsTer19) c.1326del (p.Lys442AsnfsTer19) c.1233del (p.Lys411AsnfsTer19) c.1185del (p.Lys395AsnfsTer19) | |
1 | g.197055741T>A | CA35873306 | F13B | c.1328A>T (p.Lys443Ile) c.83A>T (p.Lys28Ile) c.1325A>T (p.Lys442Ile) c.1232A>T (p.Lys411Ile) c.1184A>T (p.Lys395Ile) | dbSNP |
1 | g.197055741T>C | CA344000980 | F13B | c.1328A>G (p.Lys443Arg) c.83A>G (p.Lys28Arg) c.1325A>G (p.Lys442Arg) c.1232A>G (p.Lys411Arg) c.1184A>G (p.Lys395Arg) | |
1 | g.197055741T>G | CA344000982 | F13B | c.1328A>C (p.Lys443Thr) c.83A>C (p.Lys28Thr) c.1325A>C (p.Lys442Thr) c.1232A>C (p.Lys411Thr) c.1184A>C (p.Lys395Thr) | |
1 | g.197055741T= | CA1217911210 | F13B | c.1328A= (p.Lys443=) c.83A= (p.Lys28=) c.1325A= (p.Lys442=) c.1232A= (p.Lys411=) c.1184A= (p.Lys395=) | |
1 | g.197055742T>A | CA344000985 | F13B | c.1327A>T (p.Lys443Ter) c.82A>T (p.Lys28Ter) c.1324A>T (p.Lys442Ter) c.1231A>T (p.Lys411Ter) c.1183A>T (p.Lys395Ter) | |
1 | g.197055742T>C | CA344000986 | F13B | c.1327A>G (p.Lys443Glu) c.82A>G (p.Lys28Glu) c.1324A>G (p.Lys442Glu) c.1231A>G (p.Lys411Glu) c.1183A>G (p.Lys395Glu) | |
1 | g.197055742T>G | CA344000988 | F13B | c.1327A>C (p.Lys443Gln) c.82A>C (p.Lys28Gln) c.1324A>C (p.Lys442Gln) c.1231A>C (p.Lys411Gln) c.1183A>C (p.Lys395Gln) | |
1 | g.197055743T>A | CA422667780 | F13B | c.1326A>T (p.Gly442=) c.81A>T (p.Gly27=) c.1323A>T (p.Gly441=) c.1230A>T (p.Gly410=) c.1182A>T (p.Gly394=) | |
1 | g.197055743T>C | CA422667782 | F13B | c.1326A>G (p.Gly442=) c.81A>G (p.Gly27=) c.1323A>G (p.Gly441=) c.1230A>G (p.Gly410=) c.1182A>G (p.Gly394=) | |
1 | g.197055743T>G | CA422667783 | F13B | c.1326A>C (p.Gly442=) c.81A>C (p.Gly27=) c.1323A>C (p.Gly441=) c.1230A>C (p.Gly410=) c.1182A>C (p.Gly394=) | |
1 | g.197055744C>A | CA344000995 | F13B | c.1325G>T (p.Gly442Val) c.80G>T (p.Gly27Val) c.1322G>T (p.Gly441Val) c.1229G>T (p.Gly410Val) c.1181G>T (p.Gly394Val) | |
1 | g.197055744C= | CA1217911211 | F13B | c.1325G= (p.Gly442=) c.80G= (p.Gly27=) c.1322G= (p.Gly441=) c.1229G= (p.Gly410=) c.1181G= (p.Gly394=) | |
1 | g.197055744C>G | CA344000990 | F13B | c.1325G>C (p.Gly442Ala) c.80G>C (p.Gly27Ala) c.1322G>C (p.Gly441Ala) c.1229G>C (p.Gly410Ala) c.1181G>C (p.Gly394Ala) | |
1 | g.197055744C>T | CA1308352 | F13B | c.1325G>A (p.Gly442Glu) c.80G>A (p.Gly27Glu) c.1322G>A (p.Gly441Glu) c.1229G>A (p.Gly410Glu) c.1181G>A (p.Gly394Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055745C>A | CA344000997 | F13B | c.1324G>T (p.Gly442Ter) c.79G>T (p.Gly27Ter) c.1321G>T (p.Gly441Ter) c.1228G>T (p.Gly410Ter) c.1180G>T (p.Gly394Ter) | |
1 | g.197055745C>G | CA344000998 | F13B | c.1324G>C (p.Gly442Arg) c.79G>C (p.Gly27Arg) c.1321G>C (p.Gly441Arg) c.1228G>C (p.Gly410Arg) c.1180G>C (p.Gly394Arg) | |
1 | g.197055745C>T | CA344001000 | F13B | c.1324G>A (p.Gly442Arg) c.79G>A (p.Gly27Arg) c.1321G>A (p.Gly441Arg) c.1228G>A (p.Gly410Arg) c.1180G>A (p.Gly394Arg) | |
1 | g.197055745_197055746delinsCT | CA1217911212 | F13B | c.1323_1324delinsAG (p.Gln441=) c.78_79delinsAG (p.Gln26=) c.1320_1321delinsAG (p.Gln440=) c.1227_1228delinsAG (p.Gln409=) c.1179_1180delinsAG (p.Gln393=) | |
1 | g.197055746T>A | CA344001003 | F13B | c.1323A>T (p.Gln441His) c.78A>T (p.Gln26His) c.1320A>T (p.Gln440His) c.1227A>T (p.Gln409His) c.1179A>T (p.Gln393His) | |
1 | g.197055746T>C | CA1308354 | F13B | c.1323A>G (p.Gln441=) c.78A>G (p.Gln26=) c.1320A>G (p.Gln440=) c.1227A>G (p.Gln409=) c.1179A>G (p.Gln393=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055746T>G | CA344001006 | F13B | c.1323A>C (p.Gln441His) c.78A>C (p.Gln26His) c.1320A>C (p.Gln440His) c.1227A>C (p.Gln409His) c.1179A>C (p.Gln393His) | |
1 | g.197055746T= | CA1217911213 | F13B | c.1323A= (p.Gln441=) c.78A= (p.Gln26=) c.1320A= (p.Gln440=) c.1227A= (p.Gln409=) c.1179A= (p.Gln393=) | |
1 | g.197055747del | CA1308353 | F13B | c.1323del (p.Gly442GlufsTer20) c.78del (p.Gly27GlufsTer20) c.1320del (p.Gly441GlufsTer20) c.1227del (p.Gly410GlufsTer20) c.1179del (p.Gly394GlufsTer20) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197055747T>A | CA344001010 | F13B | c.1322A>T (p.Gln441Leu) c.77A>T (p.Gln26Leu) c.1319A>T (p.Gln440Leu) c.1226A>T (p.Gln409Leu) c.1178A>T (p.Gln393Leu) | |
1 | g.197055747T>C | CA1308355 | F13B | c.1322A>G (p.Gln441Arg) c.77A>G (p.Gln26Arg) c.1319A>G (p.Gln440Arg) c.1226A>G (p.Gln409Arg) c.1178A>G (p.Gln393Arg) | dbSNP ExAC |
1 | g.197055747T>G | CA344001013 | F13B | c.1322A>C (p.Gln441Pro) c.77A>C (p.Gln26Pro) c.1319A>C (p.Gln440Pro) c.1226A>C (p.Gln409Pro) c.1178A>C (p.Gln393Pro) | |
1 | g.197055747T= | CA1217911214 | F13B | c.1322A= (p.Gln441=) c.77A= (p.Gln26=) c.1319A= (p.Gln440=) c.1226A= (p.Gln409=) c.1178A= (p.Gln393=) | |
1 | g.197055748G>A | CA1308356 | F13B | c.1321C>T (p.Gln441Ter) c.76C>T (p.Gln26Ter) c.1318C>T (p.Gln440Ter) c.1225C>T (p.Gln409Ter) c.1177C>T (p.Gln393Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197055748G>C | CA344001015 | F13B | c.1321C>G (p.Gln441Glu) c.76C>G (p.Gln26Glu) c.1318C>G (p.Gln440Glu) c.1225C>G (p.Gln409Glu) c.1177C>G (p.Gln393Glu) | |
1 | g.197055748G= | CA1217911215 | F13B | c.1321C= (p.Gln441=) c.76C= (p.Gln26=) c.1318C= (p.Gln440=) c.1225C= (p.Gln409=) c.1177C= (p.Gln393=) | |
1 | g.197055748G>T | CA344001016 | F13B | c.1321C>A (p.Gln441Lys) c.76C>A (p.Gln26Lys) c.1318C>A (p.Gln440Lys) c.1225C>A (p.Gln409Lys) c.1177C>A (p.Gln393Lys) | |
1 | g.197055749T>A | CA344001023 | F13B | c.1320A>T (p.Glu440Asp) c.75A>T (p.Glu25Asp) c.1317A>T (p.Glu439Asp) c.1224A>T (p.Glu408Asp) c.1176A>T (p.Glu392Asp) | |
1 | g.197055749T>C | CA1308357 | F13B | c.1320A>G (p.Glu440=) c.75A>G (p.Glu25=) c.1317A>G (p.Glu439=) c.1224A>G (p.Glu408=) c.1176A>G (p.Glu392=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197055749T>G | CA344001019 | F13B | c.1320A>C (p.Glu440Asp) c.75A>C (p.Glu25Asp) c.1317A>C (p.Glu439Asp) c.1224A>C (p.Glu408Asp) c.1176A>C (p.Glu392Asp) | |
1 | g.197055749T= | CA1142174717 | F13B | c.1320A= (p.Glu440=) c.75A= (p.Glu25=) c.1317A= (p.Glu439=) c.1224A= (p.Glu408=) c.1176A= (p.Glu392=) | |
1 | g.197055750T>A | CA344001028 | F13B | c.1319A>T (p.Glu440Val) c.74A>T (p.Glu25Val) c.1316A>T (p.Glu439Val) c.1223A>T (p.Glu408Val) c.1175A>T (p.Glu392Val) | |
1 | g.197055750T>C | CA344001026 | F13B | c.1319A>G (p.Glu440Gly) c.74A>G (p.Glu25Gly) c.1316A>G (p.Glu439Gly) c.1223A>G (p.Glu408Gly) c.1175A>G (p.Glu392Gly) | |
1 | g.197055750T>G | CA344001027 | F13B | c.1319A>C (p.Glu440Ala) c.74A>C (p.Glu25Ala) c.1316A>C (p.Glu439Ala) c.1223A>C (p.Glu408Ala) c.1175A>C (p.Glu392Ala) | |
1 | g.197055751C>A | CA344001029 | F13B | c.1318G>T (p.Glu440Ter) c.73G>T (p.Glu25Ter) c.1315G>T (p.Glu439Ter) c.1222G>T (p.Glu408Ter) c.1174G>T (p.Glu392Ter) | |
1 | g.197055751C= | CA1217911216 | F13B | c.1318G= (p.Glu440=) c.73G= (p.Glu25=) c.1315G= (p.Glu439=) c.1222G= (p.Glu408=) c.1174G= (p.Glu392=) | |
1 | g.197055751C>G | CA344001040 | F13B | c.1318G>C (p.Glu440Gln) c.73G>C (p.Glu25Gln) c.1315G>C (p.Glu439Gln) c.1222G>C (p.Glu408Gln) c.1174G>C (p.Glu392Gln) | dbSNP |
1 | g.197055751C>T | CA1308358 | F13B | c.1318G>A (p.Glu440Lys) c.73G>A (p.Glu25Lys) c.1315G>A (p.Glu439Lys) c.1222G>A (p.Glu408Lys) c.1174G>A (p.Glu392Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.197055752G>A | CA1308359 | F13B | c.1317C>T (p.Cys439=) c.72C>T (p.Cys24=) c.1314C>T (p.Cys438=) c.1221C>T (p.Cys407=) c.1173C>T (p.Cys391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197055752G>C | CA1308360 | F13B | c.1317C>G (p.Cys439Trp) c.72C>G (p.Cys24Trp) c.1314C>G (p.Cys438Trp) c.1221C>G (p.Cys407Trp) c.1173C>G (p.Cys391Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055752G= | CA1142305140 | F13B | c.1317C= (p.Cys439=) c.72C= (p.Cys24=) c.1314C= (p.Cys438=) c.1221C= (p.Cys407=) c.1173C= (p.Cys391=) | |
1 | g.197055752G>T | CA344001047 | F13B | c.1317C>A (p.Cys439Ter) c.72C>A (p.Cys24Ter) c.1314C>A (p.Cys438Ter) c.1221C>A (p.Cys407Ter) c.1173C>A (p.Cys391Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197055753C>A | CA344001052 | F13B | c.1316G>T (p.Cys439Phe) c.71G>T (p.Cys24Phe) c.1313G>T (p.Cys438Phe) c.1220G>T (p.Cys407Phe) c.1172G>T (p.Cys391Phe) | |
1 | g.197055753C>G | CA344001054 | F13B | c.1316G>C (p.Cys439Ser) c.71G>C (p.Cys24Ser) c.1313G>C (p.Cys438Ser) c.1220G>C (p.Cys407Ser) c.1172G>C (p.Cys391Ser) | |
1 | g.197055753C>T | CA344001055 | F13B | c.1316G>A (p.Cys439Tyr) c.71G>A (p.Cys24Tyr) c.1313G>A (p.Cys438Tyr) c.1220G>A (p.Cys407Tyr) c.1172G>A (p.Cys391Tyr) | gnomAD v4 |
1 | g.197055754A>C | CA344001056 | F13B | c.1315T>G (p.Cys439Gly) c.70T>G (p.Cys24Gly) c.1312T>G (p.Cys438Gly) c.1219T>G (p.Cys407Gly) c.1171T>G (p.Cys391Gly) | |
1 | g.197055754A>G | CA344001057 | F13B | c.1315T>C (p.Cys439Arg) c.70T>C (p.Cys24Arg) c.1312T>C (p.Cys438Arg) c.1219T>C (p.Cys407Arg) c.1171T>C (p.Cys391Arg) | |
1 | g.197055754A>T | CA344001058 | F13B | c.1315T>A (p.Cys439Ser) c.70T>A (p.Cys24Ser) c.1312T>A (p.Cys438Ser) c.1219T>A (p.Cys407Ser) c.1171T>A (p.Cys391Ser) | |
1 | g.197055755A>C | CA422667786 | F13B | c.1314T>G (p.Arg438=) c.69T>G (p.Arg23=) c.1311T>G (p.Arg437=) c.1218T>G (p.Arg406=) c.1170T>G (p.Arg390=) | |
1 | g.197055755A>G | CA422667788 | F13B | c.1314T>C (p.Arg438=) c.69T>C (p.Arg23=) c.1311T>C (p.Arg437=) c.1218T>C (p.Arg406=) c.1170T>C (p.Arg390=) | |
1 | g.197055755A>T | CA422667787 | F13B | c.1314T>A (p.Arg438=) c.69T>A (p.Arg23=) c.1311T>A (p.Arg437=) c.1218T>A (p.Arg406=) c.1170T>A (p.Arg390=) | |
1 | g.197055756C>A | CA344001060 | F13B | c.1313G>T (p.Arg438Leu) c.68G>T (p.Arg23Leu) c.1310G>T (p.Arg437Leu) c.1217G>T (p.Arg406Leu) c.1169G>T (p.Arg390Leu) | gnomAD v4 |
1 | g.197055756C= | CA1143275632 | F13B | c.1313G= (p.Arg438=) c.68G= (p.Arg23=) c.1310G= (p.Arg437=) c.1217G= (p.Arg406=) c.1169G= (p.Arg390=) | |
1 | g.197055756C>G | CA344001066 | F13B | c.1313G>C (p.Arg438Pro) c.68G>C (p.Arg23Pro) c.1310G>C (p.Arg437Pro) c.1217G>C (p.Arg406Pro) c.1169G>C (p.Arg390Pro) | |
1 | g.197055756C>T | CA1308361 | F13B | c.1313G>A (p.Arg438His) c.68G>A (p.Arg23His) c.1310G>A (p.Arg437His) c.1217G>A (p.Arg406His) c.1169G>A (p.Arg390His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197055757G>A | CA344001068 | F13B | c.1312C>T (p.Arg438Cys) c.67C>T (p.Arg23Cys) c.1309C>T (p.Arg437Cys) c.1216C>T (p.Arg406Cys) c.1168C>T (p.Arg390Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197055757G>C | CA344001076 | F13B | c.1312C>G (p.Arg438Gly) c.67C>G (p.Arg23Gly) c.1309C>G (p.Arg437Gly) c.1216C>G (p.Arg406Gly) c.1168C>G (p.Arg390Gly) | |
1 | g.197055757G= | CA1148876340 | F13B | c.1312C= (p.Arg438=) c.67C= (p.Arg23=) c.1309C= (p.Arg437=) c.1216C= (p.Arg406=) c.1168C= (p.Arg390=) | |
1 | g.197055757G>T | CA1308362 | F13B | c.1312C>A (p.Arg438Ser) c.67C>A (p.Arg23Ser) c.1309C>A (p.Arg437Ser) c.1216C>A (p.Arg406Ser) c.1168C>A (p.Arg390Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197055758A= | CA1217911217 | F13B | c.1311T= (p.Ser437=) c.66T= (p.Ser22=) c.1308T= (p.Ser436=) c.1215T= (p.Ser405=) c.1167T= (p.Ser389=) | |
1 | g.197055758A>C | CA1308363 | F13B | c.1311T>G (p.Ser437=) c.66T>G (p.Ser22=) c.1308T>G (p.Ser436=) c.1215T>G (p.Ser405=) c.1167T>G (p.Ser389=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197055758A>G | CA422667789 | F13B | c.1311T>C (p.Ser437=) c.66T>C (p.Ser22=) c.1308T>C (p.Ser436=) c.1215T>C (p.Ser405=) c.1167T>C (p.Ser389=) | |
1 | g.197055758A>T | CA422667790 | F13B | c.1311T>A (p.Ser437=) c.66T>A (p.Ser22=) c.1308T>A (p.Ser436=) c.1215T>A (p.Ser405=) c.1167T>A (p.Ser389=) | |
1 | g.197055759G>A | CA1308364 | F13B | c.1310C>T (p.Ser437Phe) c.65C>T (p.Ser22Phe) c.1307C>T (p.Ser436Phe) c.1214C>T (p.Ser405Phe) c.1166C>T (p.Ser389Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197055759G>C | CA344001085 | F13B | c.1310C>G (p.Ser437Cys) c.65C>G (p.Ser22Cys) c.1307C>G (p.Ser436Cys) c.1214C>G (p.Ser405Cys) c.1166C>G (p.Ser389Cys) | |
1 | g.197055759G= | CA1217911218 | F13B | c.1310C= (p.Ser437=) c.65C= (p.Ser22=) c.1307C= (p.Ser436=) c.1214C= (p.Ser405=) c.1166C= (p.Ser389=) | |
1 | g.197055759G>T | CA344001087 | F13B | c.1310C>A (p.Ser437Tyr) c.65C>A (p.Ser22Tyr) c.1307C>A (p.Ser436Tyr) c.1214C>A (p.Ser405Tyr) c.1166C>A (p.Ser389Tyr) | |
1 | g.197055760A>C | CA344001090 | F13B | c.1309T>G (p.Ser437Ala) c.64T>G (p.Ser22Ala) c.1306T>G (p.Ser436Ala) c.1213T>G (p.Ser405Ala) c.1165T>G (p.Ser389Ala) | gnomAD v4 |
1 | g.197055760A>G | CA344001092 | F13B | c.1309T>C (p.Ser437Pro) c.64T>C (p.Ser22Pro) c.1306T>C (p.Ser436Pro) c.1213T>C (p.Ser405Pro) c.1165T>C (p.Ser389Pro) | |
1 | g.197055760A>T | CA344001094 | F13B | c.1309T>A (p.Ser437Thr) c.64T>A (p.Ser22Thr) c.1306T>A (p.Ser436Thr) c.1213T>A (p.Ser405Thr) c.1165T>A (p.Ser389Thr) | |
1 | g.197055761T>A | CA422667792 | F13B | c.1308A>T (p.Ile436=) c.63A>T (p.Ile21=) c.1305A>T (p.Ile435=) c.1212A>T (p.Ile404=) c.1164A>T (p.Ile388=) | |
1 | g.197055761T>C | CA344001097 | F13B | c.1308A>G (p.Ile436Met) c.63A>G (p.Ile21Met) c.1305A>G (p.Ile435Met) c.1212A>G (p.Ile404Met) c.1164A>G (p.Ile388Met) | |
1 | g.197055761T>G | CA422667793 | F13B | c.1308A>C (p.Ile436=) c.63A>C (p.Ile21=) c.1305A>C (p.Ile435=) c.1212A>C (p.Ile404=) c.1164A>C (p.Ile388=) | |
1 | g.197055761dup | CA2649658729 | F13B | c.1308dup (p.Ser437IlefsTer21) c.63dup (p.Ser22IlefsTer21) c.1305dup (p.Ser436IlefsTer21) c.1212dup (p.Ser405IlefsTer21) c.1164dup (p.Ser389IlefsTer21) | gnomAD v4 |
1 | g.197055762A>C | CA344001101 | F13B | c.1307T>G (p.Ile436Arg) c.62T>G (p.Ile21Arg) c.1304T>G (p.Ile435Arg) c.1211T>G (p.Ile404Arg) c.1163T>G (p.Ile388Arg) | |
1 | g.197055762A>G | CA344001100 | F13B | c.1307T>C (p.Ile436Thr) c.62T>C (p.Ile21Thr) c.1304T>C (p.Ile435Thr) c.1211T>C (p.Ile404Thr) c.1163T>C (p.Ile388Thr) | |
1 | g.197055762A>T | CA344001099 | F13B | c.1307T>A (p.Ile436Lys) c.62T>A (p.Ile21Lys) c.1304T>A (p.Ile435Lys) c.1211T>A (p.Ile404Lys) c.1163T>A (p.Ile388Lys) | gnomAD v4 |
1 | g.197055762_197055763delinsAT | CA1217911219 | F13B | c.1306_1307delinsAT (p.Ile436=) c.61_62delinsAT (p.Ile21=) c.1303_1304delinsAT (p.Ile435=) c.1210_1211delinsAT (p.Ile404=) c.1162_1163delinsAT (p.Ile388=) | |
1 | g.197055763T>A | CA344001102 | F13B | c.1306A>T (p.Ile436Leu) c.61A>T (p.Ile21Leu) c.1303A>T (p.Ile435Leu) c.1210A>T (p.Ile404Leu) c.1162A>T (p.Ile388Leu) | |
1 | g.197055763T>C | CA344001103 | F13B | c.1306A>G (p.Ile436Val) c.61A>G (p.Ile21Val) c.1303A>G (p.Ile435Val) c.1210A>G (p.Ile404Val) c.1162A>G (p.Ile388Val) | |
1 | g.197055763T>G | CA344001104 | F13B | c.1306A>C (p.Ile436Leu) c.61A>C (p.Ile21Leu) c.1303A>C (p.Ile435Leu) c.1210A>C (p.Ile404Leu) c.1162A>C (p.Ile388Leu) | |
1 | g.197055767del | CA1308365 | F13B | c.1306del (p.Ile436TyrfsTer26) c.61del (p.Ile21TyrfsTer26) c.1303del (p.Ile435TyrfsTer26) c.1210del (p.Ile404TyrfsTer26) c.1162del (p.Ile388TyrfsTer26) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055764T>A | CA344001107 | F13B | c.1305A>T (p.Lys435Asn) c.60A>T (p.Lys20Asn) c.1302A>T (p.Lys434Asn) c.1209A>T (p.Lys403Asn) c.1161A>T (p.Lys387Asn) | |
1 | g.197055764T>C | CA422667794 | F13B | c.1305A>G (p.Lys435=) c.60A>G (p.Lys20=) c.1302A>G (p.Lys434=) c.1209A>G (p.Lys403=) c.1161A>G (p.Lys387=) | gnomAD v4 |
1 | g.197055764T>G | CA344001109 | F13B | c.1305A>C (p.Lys435Asn) c.60A>C (p.Lys20Asn) c.1302A>C (p.Lys434Asn) c.1209A>C (p.Lys403Asn) c.1161A>C (p.Lys387Asn) | |
1 | g.197055765T>A | CA344001113 | F13B | c.1304A>T (p.Lys435Ile) c.59A>T (p.Lys20Ile) c.1301A>T (p.Lys434Ile) c.1208A>T (p.Lys403Ile) c.1160A>T (p.Lys387Ile) | |
1 | g.197055765T>C | CA344001114 | F13B | c.1304A>G (p.Lys435Arg) c.59A>G (p.Lys20Arg) c.1301A>G (p.Lys434Arg) c.1208A>G (p.Lys403Arg) c.1160A>G (p.Lys387Arg) | |
1 | g.197055765T>G | CA344001116 | F13B | c.1304A>C (p.Lys435Thr) c.59A>C (p.Lys20Thr) c.1301A>C (p.Lys434Thr) c.1208A>C (p.Lys403Thr) c.1160A>C (p.Lys387Thr) | |
1 | g.197055766T>A | CA344001119 | F13B | c.1303A>T (p.Lys435Ter) c.58A>T (p.Lys20Ter) c.1300A>T (p.Lys434Ter) c.1207A>T (p.Lys403Ter) c.1159A>T (p.Lys387Ter) | |
1 | g.197055766T>C | CA1308366 | F13B | c.1303A>G (p.Lys435Glu) c.58A>G (p.Lys20Glu) c.1300A>G (p.Lys434Glu) c.1207A>G (p.Lys403Glu) c.1159A>G (p.Lys387Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055766T>G | CA344001120 | F13B | c.1303A>C (p.Lys435Gln) c.58A>C (p.Lys20Gln) c.1300A>C (p.Lys434Gln) c.1207A>C (p.Lys403Gln) c.1159A>C (p.Lys387Gln) | |
1 | g.197055766T= | CA1148265652 | F13B | c.1303A= (p.Lys435=) c.58A= (p.Lys20=) c.1300A= (p.Lys434=) c.1207A= (p.Lys403=) c.1159A= (p.Lys387=) | |
1 | g.197055767T>A | CA422667795 | F13B | c.1302A>T (p.Ser434=) c.57A>T (p.Ser19=) c.1299A>T (p.Ser433=) c.1206A>T (p.Ser402=) c.1158A>T (p.Ser386=) | |
1 | g.197055767T>C | CA422667796 | F13B | c.1302A>G (p.Ser434=) c.57A>G (p.Ser19=) c.1299A>G (p.Ser433=) c.1206A>G (p.Ser402=) c.1158A>G (p.Ser386=) | |
1 | g.197055767T>G | CA422667797 | F13B | c.1302A>C (p.Ser434=) c.57A>C (p.Ser19=) c.1299A>C (p.Ser433=) c.1206A>C (p.Ser402=) c.1158A>C (p.Ser386=) | |
1 | g.197055768G>A | CA344001122 | F13B | c.1301C>T (p.Ser434Leu) c.56C>T (p.Ser19Leu) c.1298C>T (p.Ser433Leu) c.1205C>T (p.Ser402Leu) c.1157C>T (p.Ser386Leu) | |
1 | g.197055768G>C | CA344001124 | F13B | c.1301C>G (p.Ser434Ter) c.56C>G (p.Ser19Ter) c.1298C>G (p.Ser433Ter) c.1205C>G (p.Ser402Ter) c.1157C>G (p.Ser386Ter) | |
1 | g.197055768G= | CA1217911220 | F13B | c.1301C= (p.Ser434=) c.56C= (p.Ser19=) c.1298C= (p.Ser433=) c.1205C= (p.Ser402=) c.1157C= (p.Ser386=) | |
1 | g.197055768G>T | CA35873317 | F13B | c.1301C>A (p.Ser434Ter) c.56C>A (p.Ser19Ter) c.1298C>A (p.Ser433Ter) c.1205C>A (p.Ser402Ter) c.1157C>A (p.Ser386Ter) | dbSNP |
1 | g.197055769A>C | CA344001137 | F13B | c.1300T>G (p.Ser434Ala) c.55T>G (p.Ser19Ala) c.1297T>G (p.Ser433Ala) c.1204T>G (p.Ser402Ala) c.1156T>G (p.Ser386Ala) | |
1 | g.197055769A>G | CA344001139 | F13B | c.1300T>C (p.Ser434Pro) c.55T>C (p.Ser19Pro) c.1297T>C (p.Ser433Pro) c.1204T>C (p.Ser402Pro) c.1156T>C (p.Ser386Pro) | |
1 | g.197055769A>T | CA344001141 | F13B | c.1300T>A (p.Ser434Thr) c.55T>A (p.Ser19Thr) c.1297T>A (p.Ser433Thr) c.1204T>A (p.Ser402Thr) c.1156T>A (p.Ser386Thr) | |
1 | g.197055770T>A | CA422667798 | F13B | c.1299A>T (p.Gly433=) c.54A>T (p.Gly18=) c.1296A>T (p.Gly432=) c.1203A>T (p.Gly401=) c.1155A>T (p.Gly385=) | |
1 | g.197055770T>C | CA422667799 | F13B | c.1299A>G (p.Gly433=) c.54A>G (p.Gly18=) c.1296A>G (p.Gly432=) c.1203A>G (p.Gly401=) c.1155A>G (p.Gly385=) | |
1 | g.197055770T>G | CA422667800 | F13B | c.1299A>C (p.Gly433=) c.54A>C (p.Gly18=) c.1296A>C (p.Gly432=) c.1203A>C (p.Gly401=) c.1155A>C (p.Gly385=) | |
1 | g.197055771C>A | CA344001142 | F13B | c.1298G>T (p.Gly433Val) c.53G>T (p.Gly18Val) c.1295G>T (p.Gly432Val) c.1202G>T (p.Gly401Val) c.1154G>T (p.Gly385Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197055771C= | CA1143467551 | F13B | c.1298G= (p.Gly433=) c.53G= (p.Gly18=) c.1295G= (p.Gly432=) c.1202G= (p.Gly401=) c.1154G= (p.Gly385=) | |
1 | g.197055771C>G | CA344001143 | F13B | c.1298G>C (p.Gly433Ala) c.53G>C (p.Gly18Ala) c.1295G>C (p.Gly432Ala) c.1202G>C (p.Gly401Ala) c.1154G>C (p.Gly385Ala) | |
1 | g.197055771C>T | CA1308367 | F13B | c.1298G>A (p.Gly433Glu) c.53G>A (p.Gly18Glu) c.1295G>A (p.Gly432Glu) c.1202G>A (p.Gly401Glu) c.1154G>A (p.Gly385Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197055772C>A | CA344001144 | F13B | c.1297G>T (p.Gly433Ter) c.52G>T (p.Gly18Ter) c.1294G>T (p.Gly432Ter) c.1201G>T (p.Gly401Ter) c.1153G>T (p.Gly385Ter) | gnomAD v4 |
1 | g.197055772C>G | CA344001147 | F13B | c.1297G>C (p.Gly433Arg) c.52G>C (p.Gly18Arg) c.1294G>C (p.Gly432Arg) c.1201G>C (p.Gly401Arg) c.1153G>C (p.Gly385Arg) | COSMIC |
1 | g.197055772C>T | CA344001146 | F13B | c.1297G>A (p.Gly433Arg) c.52G>A (p.Gly18Arg) c.1294G>A (p.Gly432Arg) c.1201G>A (p.Gly401Arg) c.1153G>A (p.Gly385Arg) | gnomAD v4 |
1 | g.197055773C>A | CA344001149 | F13B | c.1296G>T (p.Arg432Ser) c.51G>T (p.Arg17Ser) c.1293G>T (p.Arg431Ser) c.1200G>T (p.Arg400Ser) c.1152G>T (p.Arg384Ser) | gnomAD v4 |
1 | g.197055773C>G | CA344001150 | F13B | c.1296G>C (p.Arg432Ser) c.51G>C (p.Arg17Ser) c.1293G>C (p.Arg431Ser) c.1200G>C (p.Arg400Ser) c.1152G>C (p.Arg384Ser) | |
1 | g.197055773C>T | CA422667801 | F13B | c.1296G>A (p.Arg432=) c.51G>A (p.Arg17=) c.1293G>A (p.Arg431=) c.1200G>A (p.Arg400=) c.1152G>A (p.Arg384=) | |
1 | g.197055774C>A | CA344001152 | F13B | c.1295G>T (p.Arg432Met) c.50G>T (p.Arg17Met) c.1292G>T (p.Arg431Met) c.1199G>T (p.Arg400Met) c.1151G>T (p.Arg384Met) | |
1 | g.197055774C= | CA1217911221 | F13B | c.1295G= (p.Arg432=) c.50G= (p.Arg17=) c.1292G= (p.Arg431=) c.1199G= (p.Arg400=) c.1151G= (p.Arg384=) | |
1 | g.197055774C>G | CA1308368 | F13B | c.1295G>C (p.Arg432Thr) c.50G>C (p.Arg17Thr) c.1292G>C (p.Arg431Thr) c.1199G>C (p.Arg400Thr) c.1151G>C (p.Arg384Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197055774C>T | CA344001153 | F13B | c.1295G>A (p.Arg432Lys) c.50G>A (p.Arg17Lys) c.1292G>A (p.Arg431Lys) c.1199G>A (p.Arg400Lys) c.1151G>A (p.Arg384Lys) | gnomAD v4 |
1 | g.197055775T>A | CA344001155 | F13B | c.1294A>T (p.Arg432Trp) c.49A>T (p.Arg17Trp) c.1291A>T (p.Arg431Trp) c.1198A>T (p.Arg400Trp) c.1150A>T (p.Arg384Trp) | |
1 | g.197055775T>C | CA344001156 | F13B | c.1294A>G (p.Arg432Gly) c.49A>G (p.Arg17Gly) c.1291A>G (p.Arg431Gly) c.1198A>G (p.Arg400Gly) c.1150A>G (p.Arg384Gly) | gnomAD v4 |
1 | g.197055775T>G | CA422667803 | F13B | c.1294A>C (p.Arg432=) c.49A>C (p.Arg17=) c.1291A>C (p.Arg431=) c.1198A>C (p.Arg400=) c.1150A>C (p.Arg384=) | |
1 | g.197055776C>A | CA422667804 | F13B | c.1293G>T (p.Leu431=) c.48G>T (p.Leu16=) c.1290G>T (p.Leu430=) c.1197G>T (p.Leu399=) c.1149G>T (p.Leu383=) | |
1 | g.197055776C>G | CA422667805 | F13B | c.1293G>C (p.Leu431=) c.48G>C (p.Leu16=) c.1290G>C (p.Leu430=) c.1197G>C (p.Leu399=) c.1149G>C (p.Leu383=) | |
1 | g.197055776C>T | CA422667806 | F13B | c.1293G>A (p.Leu431=) c.48G>A (p.Leu16=) c.1290G>A (p.Leu430=) c.1197G>A (p.Leu399=) c.1149G>A (p.Leu383=) | |
1 | g.197055776_197055780delinsCAGTA | CA1217911222 | F13B | c.1289_1293delinsTACTG (p.Leu430=) c.44_48delinsTACTG (p.Leu15=) c.1286_1290delinsTACTG (p.Leu429=) c.1193_1197delinsTACTG (p.Leu398=) c.1145_1149delinsTACTG (p.Leu382=) | |
1 | g.197055777A>C | CA344001159 | F13B | c.1292T>G (p.Leu431Arg) c.47T>G (p.Leu16Arg) c.1289T>G (p.Leu430Arg) c.1196T>G (p.Leu399Arg) c.1148T>G (p.Leu383Arg) | |
1 | g.197055777A>G | CA344001160 | F13B | c.1292T>C (p.Leu431Pro) c.47T>C (p.Leu16Pro) c.1289T>C (p.Leu430Pro) c.1196T>C (p.Leu399Pro) c.1148T>C (p.Leu383Pro) | |
1 | g.197055777A>T | CA344001163 | F13B | c.1292T>A (p.Leu431Gln) c.47T>A (p.Leu16Gln) c.1289T>A (p.Leu430Gln) c.1196T>A (p.Leu399Gln) c.1148T>A (p.Leu383Gln) | |
1 | g.197055782_197055785del | CA1308369 | F13B | c.1289_1292del (p.Leu430Ter) c.44_47del (p.Leu15Ter) c.1286_1289del (p.Leu429Ter) c.1193_1196del (p.Leu398Ter) c.1145_1148del (p.Leu382Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197055778G>A | CA422667807 | F13B | c.1291C>T (p.Leu431=) c.46C>T (p.Leu16=) c.1288C>T (p.Leu430=) c.1195C>T (p.Leu399=) c.1147C>T (p.Leu383=) | |
1 | g.197055778G>C | CA344001167 | F13B | c.1291C>G (p.Leu431Val) c.46C>G (p.Leu16Val) c.1288C>G (p.Leu430Val) c.1195C>G (p.Leu399Val) c.1147C>G (p.Leu383Val) | |
1 | g.197055778G= | CA1217911223 | F13B | c.1291C= (p.Leu431=) c.46C= (p.Leu16=) c.1288C= (p.Leu430=) c.1195C= (p.Leu399=) c.1147C= (p.Leu383=) | |
1 | g.197055778G>T | CA344001165 | F13B | c.1291C>A (p.Leu431Met) c.46C>A (p.Leu16Met) c.1288C>A (p.Leu430Met) c.1195C>A (p.Leu399Met) c.1147C>A (p.Leu383Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055779T>A | CA344001170 | F13B | c.1290A>T (p.Leu430Phe) c.45A>T (p.Leu15Phe) c.1287A>T (p.Leu429Phe) c.1194A>T (p.Leu398Phe) c.1146A>T (p.Leu382Phe) | |
1 | g.197055779T>C | CA422667809 | F13B | c.1290A>G (p.Leu430=) c.45A>G (p.Leu15=) c.1287A>G (p.Leu429=) c.1194A>G (p.Leu398=) c.1146A>G (p.Leu382=) | dbSNP gnomAD v4 |
1 | g.197055779T>G | CA344001168 | F13B | c.1290A>C (p.Leu430Phe) c.45A>C (p.Leu15Phe) c.1287A>C (p.Leu429Phe) c.1194A>C (p.Leu398Phe) c.1146A>C (p.Leu382Phe) | |
1 | g.197055779T= | CA1217911224 | F13B | c.1290A= (p.Leu430=) c.45A= (p.Leu15=) c.1287A= (p.Leu429=) c.1194A= (p.Leu398=) c.1146A= (p.Leu382=) | |
1 | g.197055780A>C | CA344001173 | F13B | c.1289T>G (p.Leu430Ter) c.44T>G (p.Leu15Ter) c.1286T>G (p.Leu429Ter) c.1193T>G (p.Leu398Ter) c.1145T>G (p.Leu382Ter) | |
1 | g.197055780A>G | CA344001175 | F13B | c.1289T>C (p.Leu430Ser) c.44T>C (p.Leu15Ser) c.1286T>C (p.Leu429Ser) c.1193T>C (p.Leu398Ser) c.1145T>C (p.Leu382Ser) | |
1 | g.197055780A>T | CA344001176 | F13B | c.1289T>A (p.Leu430Ter) c.44T>A (p.Leu15Ter) c.1286T>A (p.Leu429Ter) c.1193T>A (p.Leu398Ter) c.1145T>A (p.Leu382Ter) | |
1 | g.197055781A>C | CA344001178 | F13B | c.1288T>G (p.Leu430Val) c.43T>G (p.Leu15Val) c.1285T>G (p.Leu429Val) c.1192T>G (p.Leu398Val) c.1144T>G (p.Leu382Val) | |
1 | g.197055781A>G | CA422667812 | F13B | c.1288T>C (p.Leu430=) c.43T>C (p.Leu15=) c.1285T>C (p.Leu429=) c.1192T>C (p.Leu398=) c.1144T>C (p.Leu382=) | |
1 | g.197055781A>T | CA344001180 | F13B | c.1288T>A (p.Leu430Ile) c.43T>A (p.Leu15Ile) c.1285T>A (p.Leu429Ile) c.1192T>A (p.Leu398Ile) c.1144T>A (p.Leu382Ile) | |
1 | g.197055782G>A | CA1308370 | F13B | c.1287C>T (p.Tyr429=) c.42C>T (p.Tyr14=) c.1284C>T (p.Tyr428=) c.1191C>T (p.Tyr397=) c.1143C>T (p.Tyr381=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197055782G>C | CA344001184 | F13B | c.1287C>G (p.Tyr429Ter) c.42C>G (p.Tyr14Ter) c.1284C>G (p.Tyr428Ter) c.1191C>G (p.Tyr397Ter) c.1143C>G (p.Tyr381Ter) | |
1 | g.197055782G= | CA1149043491 | F13B | c.1287C= (p.Tyr429=) c.42C= (p.Tyr14=) c.1284C= (p.Tyr428=) c.1191C= (p.Tyr397=) c.1143C= (p.Tyr381=) | |
1 | g.197055782G>T | CA344001186 | F13B | c.1287C>A (p.Tyr429Ter) c.42C>A (p.Tyr14Ter) c.1284C>A (p.Tyr428Ter) c.1191C>A (p.Tyr397Ter) c.1143C>A (p.Tyr381Ter) | COSMIC |
1 | g.197055783T>A | CA344001188 | F13B | c.1286A>T (p.Tyr429Phe) c.41A>T (p.Tyr14Phe) c.1283A>T (p.Tyr428Phe) c.1190A>T (p.Tyr397Phe) c.1142A>T (p.Tyr381Phe) | |
1 | g.197055783T>C | CA344001190 | F13B | c.1286A>G (p.Tyr429Cys) c.41A>G (p.Tyr14Cys) c.1283A>G (p.Tyr428Cys) c.1190A>G (p.Tyr397Cys) c.1142A>G (p.Tyr381Cys) | gnomAD v4 |
1 | g.197055783T>G | CA344001193 | F13B | c.1286A>C (p.Tyr429Ser) c.41A>C (p.Tyr14Ser) c.1283A>C (p.Tyr428Ser) c.1190A>C (p.Tyr397Ser) c.1142A>C (p.Tyr381Ser) | |
1 | g.197055784A= | CA1143482318 | F13B | c.1285T= (p.Tyr429=) c.40T= (p.Tyr14=) c.1282T= (p.Tyr428=) c.1189T= (p.Tyr397=) c.1141T= (p.Tyr381=) | |
1 | g.197055784A>C | CA344001199 | F13B | c.1285T>G (p.Tyr429Asp) c.40T>G (p.Tyr14Asp) c.1282T>G (p.Tyr428Asp) c.1189T>G (p.Tyr397Asp) c.1141T>G (p.Tyr381Asp) | |
1 | g.197055784A>G | CA1308371 | F13B | c.1285T>C (p.Tyr429His) c.40T>C (p.Tyr14His) c.1282T>C (p.Tyr428His) c.1189T>C (p.Tyr397His) c.1141T>C (p.Tyr381His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055784A>T | CA344001196 | F13B | c.1285T>A (p.Tyr429Asn) c.40T>A (p.Tyr14Asn) c.1282T>A (p.Tyr428Asn) c.1189T>A (p.Tyr397Asn) c.1141T>A (p.Tyr381Asn) | |
1 | g.197055785A>C | CA344001202 | F13B | c.1284T>G (p.Tyr428Ter) c.39T>G (p.Tyr13Ter) c.1281T>G (p.Tyr427Ter) c.1188T>G (p.Tyr396Ter) c.1140T>G (p.Tyr380Ter) | |
1 | g.197055785A>G | CA422667813 | F13B | c.1284T>C (p.Tyr428=) c.39T>C (p.Tyr13=) c.1281T>C (p.Tyr427=) c.1188T>C (p.Tyr396=) c.1140T>C (p.Tyr380=) | gnomAD v4 |
1 | g.197055785A>T | CA344001204 | F13B | c.1284T>A (p.Tyr428Ter) c.39T>A (p.Tyr13Ter) c.1281T>A (p.Tyr427Ter) c.1188T>A (p.Tyr396Ter) c.1140T>A (p.Tyr380Ter) | |
1 | g.197055786T>A | CA344001207 | F13B | c.1283A>T (p.Tyr428Phe) c.38A>T (p.Tyr13Phe) c.1280A>T (p.Tyr427Phe) c.1187A>T (p.Tyr396Phe) c.1139A>T (p.Tyr380Phe) | COSMIC |
1 | g.197055786T>C | CA344001208 | F13B | c.1283A>G (p.Tyr428Cys) c.38A>G (p.Tyr13Cys) c.1280A>G (p.Tyr427Cys) c.1187A>G (p.Tyr396Cys) c.1139A>G (p.Tyr380Cys) | dbSNP |
1 | g.197055786T>G | CA344001210 | F13B | c.1283A>C (p.Tyr428Ser) c.38A>C (p.Tyr13Ser) c.1280A>C (p.Tyr427Ser) c.1187A>C (p.Tyr396Ser) c.1139A>C (p.Tyr380Ser) | |
1 | g.197055786T= | CA1217911225 | F13B | c.1283A= (p.Tyr428=) c.38A= (p.Tyr13=) c.1280A= (p.Tyr427=) c.1187A= (p.Tyr396=) c.1139A= (p.Tyr380=) | |
1 | g.197055787A>C | CA344001213 | F13B | c.1282T>G (p.Tyr428Asp) c.37T>G (p.Tyr13Asp) c.1279T>G (p.Tyr427Asp) c.1186T>G (p.Tyr396Asp) c.1138T>G (p.Tyr380Asp) | |
1 | g.197055787A>G | CA344001215 | F13B | c.1282T>C (p.Tyr428His) c.37T>C (p.Tyr13His) c.1279T>C (p.Tyr427His) c.1186T>C (p.Tyr396His) c.1138T>C (p.Tyr380His) | |
1 | g.197055787A>T | CA344001218 | F13B | c.1282T>A (p.Tyr428Asn) c.37T>A (p.Tyr13Asn) c.1279T>A (p.Tyr427Asn) c.1186T>A (p.Tyr396Asn) c.1138T>A (p.Tyr380Asn) | |
1 | g.197055788T>A | CA344001219 | F13B | c.1281A>T (p.Glu427Asp) c.36A>T (p.Glu12Asp) c.1278A>T (p.Glu426Asp) c.1185A>T (p.Glu395Asp) c.1137A>T (p.Glu379Asp) | |
1 | g.197055788T>C | CA422667814 | F13B | c.1281A>G (p.Glu427=) c.36A>G (p.Glu12=) c.1278A>G (p.Glu426=) c.1185A>G (p.Glu395=) c.1137A>G (p.Glu379=) | |
1 | g.197055788T>G | CA344001221 | F13B | c.1281A>C (p.Glu427Asp) c.36A>C (p.Glu12Asp) c.1278A>C (p.Glu426Asp) c.1185A>C (p.Glu395Asp) c.1137A>C (p.Glu379Asp) | |
1 | g.197055789T>A | CA344001223 | F13B | c.1280A>T (p.Glu427Val) c.35A>T (p.Glu12Val) c.1277A>T (p.Glu426Val) c.1184A>T (p.Glu395Val) c.1136A>T (p.Glu379Val) | |
1 | g.197055789T>C | CA344001226 | F13B | c.1280A>G (p.Glu427Gly) c.35A>G (p.Glu12Gly) c.1277A>G (p.Glu426Gly) c.1184A>G (p.Glu395Gly) c.1136A>G (p.Glu379Gly) | |
1 | g.197055789T>G | CA344001228 | F13B | c.1280A>C (p.Glu427Ala) c.35A>C (p.Glu12Ala) c.1277A>C (p.Glu426Ala) c.1184A>C (p.Glu395Ala) c.1136A>C (p.Glu379Ala) | gnomAD v4 |
1 | g.197055790C>A | CA344001231 | F13B | c.1279G>T (p.Glu427Ter) c.34G>T (p.Glu12Ter) c.1276G>T (p.Glu426Ter) c.1183G>T (p.Glu395Ter) c.1135G>T (p.Glu379Ter) | gnomAD v4 |
1 | g.197055790C>G | CA344001234 | F13B | c.1279G>C (p.Glu427Gln) c.34G>C (p.Glu12Gln) c.1276G>C (p.Glu426Gln) c.1183G>C (p.Glu395Gln) c.1135G>C (p.Glu379Gln) | |
1 | g.197055790C>T | CA344001230 | F13B | c.1279G>A (p.Glu427Lys) c.34G>A (p.Glu12Lys) c.1276G>A (p.Glu426Lys) c.1183G>A (p.Glu395Lys) c.1135G>A (p.Glu379Lys) | |
1 | g.197055791A= | CA1217911226 | F13B | c.1278T= (p.Asn426=) c.33T= (p.Asn11=) c.1275T= (p.Asn425=) c.1182T= (p.Asn394=) c.1134T= (p.Asn378=) | |
1 | g.197055791A>C | CA344001236 | F13B | c.1278T>G (p.Asn426Lys) c.33T>G (p.Asn11Lys) c.1275T>G (p.Asn425Lys) c.1182T>G (p.Asn394Lys) c.1134T>G (p.Asn378Lys) | |
1 | g.197055791A>G | CA422667816 | F13B | c.1278T>C (p.Asn426=) c.33T>C (p.Asn11=) c.1275T>C (p.Asn425=) c.1182T>C (p.Asn394=) c.1134T>C (p.Asn378=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055791A>T | CA344001237 | F13B | c.1278T>A (p.Asn426Lys) c.33T>A (p.Asn11Lys) c.1275T>A (p.Asn425Lys) c.1182T>A (p.Asn394Lys) c.1134T>A (p.Asn378Lys) | |
1 | g.197055792T>A | CA344001239 | F13B | c.1277A>T (p.Asn426Ile) c.32A>T (p.Asn11Ile) c.1274A>T (p.Asn425Ile) c.1181A>T (p.Asn394Ile) c.1133A>T (p.Asn378Ile) | |
1 | g.197055792T>C | CA344001241 | F13B | c.1277A>G (p.Asn426Ser) c.32A>G (p.Asn11Ser) c.1274A>G (p.Asn425Ser) c.1181A>G (p.Asn394Ser) c.1133A>G (p.Asn378Ser) | |
1 | g.197055792T>G | CA344001243 | F13B | c.1277A>C (p.Asn426Thr) c.32A>C (p.Asn11Thr) c.1274A>C (p.Asn425Thr) c.1181A>C (p.Asn394Thr) c.1133A>C (p.Asn378Thr) | |
1 | g.197055793T>A | CA344001247 | F13B | c.1276A>T (p.Asn426Tyr) c.31A>T (p.Asn11Tyr) c.1273A>T (p.Asn425Tyr) c.1180A>T (p.Asn394Tyr) c.1132A>T (p.Asn378Tyr) | |
1 | g.197055793T>C | CA344001249 | F13B | c.1276A>G (p.Asn426Asp) c.31A>G (p.Asn11Asp) c.1273A>G (p.Asn425Asp) c.1180A>G (p.Asn394Asp) c.1132A>G (p.Asn378Asp) | dbSNP |
1 | g.197055793T>G | CA344001252 | F13B | c.1276A>C (p.Asn426His) c.31A>C (p.Asn11His) c.1273A>C (p.Asn425His) c.1180A>C (p.Asn394His) c.1132A>C (p.Asn378His) | gnomAD v4 |
1 | g.197055793T= | CA1217911227 | F13B | c.1276A= (p.Asn426=) c.31A= (p.Asn11=) c.1273A= (p.Asn425=) c.1180A= (p.Asn394=) c.1132A= (p.Asn378=) | |
1 | g.197055794G>A | CA422667818 | F13B | c.1275C>T (p.Cys425=) c.30C>T (p.Cys10=) c.1272C>T (p.Cys424=) c.1179C>T (p.Cys393=) c.1131C>T (p.Cys377=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055794G>C | CA344001253 | F13B | c.1275C>G (p.Cys425Trp) c.30C>G (p.Cys10Trp) c.1272C>G (p.Cys424Trp) c.1179C>G (p.Cys393Trp) c.1131C>G (p.Cys377Trp) | |
1 | g.197055794G= | CA1217911228 | F13B | c.1275C= (p.Cys425=) c.30C= (p.Cys10=) c.1272C= (p.Cys424=) c.1179C= (p.Cys393=) c.1131C= (p.Cys377=) | |
1 | g.197055794G>T | CA344001254 | F13B | c.1275C>A (p.Cys425Ter) c.30C>A (p.Cys10Ter) c.1272C>A (p.Cys424Ter) c.1179C>A (p.Cys393Ter) c.1131C>A (p.Cys377Ter) | |
1 | g.197055795C>A | CA344001260 | F13B | c.1274G>T (p.Cys425Phe) c.29G>T (p.Cys10Phe) c.1271G>T (p.Cys424Phe) c.1178G>T (p.Cys393Phe) c.1130G>T (p.Cys377Phe) | gnomAD v4 |
1 | g.197055795C>G | CA344001258 | F13B | c.1274G>C (p.Cys425Ser) c.29G>C (p.Cys10Ser) c.1271G>C (p.Cys424Ser) c.1178G>C (p.Cys393Ser) c.1130G>C (p.Cys377Ser) | |
1 | g.197055795C>T | CA344001256 | F13B | c.1274G>A (p.Cys425Tyr) c.29G>A (p.Cys10Tyr) c.1271G>A (p.Cys424Tyr) c.1178G>A (p.Cys393Tyr) c.1130G>A (p.Cys377Tyr) | |
1 | g.197055796A= | CA1217911229 | F13B | c.1273T= (p.Cys425=) c.28T= (p.Cys10=) c.1270T= (p.Cys424=) c.1177T= (p.Cys393=) c.1129T= (p.Cys377=) | |
1 | g.197055796A>C | CA344001262 | F13B | c.1273T>G (p.Cys425Gly) c.28T>G (p.Cys10Gly) c.1270T>G (p.Cys424Gly) c.1177T>G (p.Cys393Gly) c.1129T>G (p.Cys377Gly) | |
1 | g.197055796A>G | CA344001265 | F13B | c.1273T>C (p.Cys425Arg) c.28T>C (p.Cys10Arg) c.1270T>C (p.Cys424Arg) c.1177T>C (p.Cys393Arg) c.1129T>C (p.Cys377Arg) | dbSNP gnomAD v4 |
1 | g.197055796A>T | CA344001266 | F13B | c.1273T>A (p.Cys425Ser) c.28T>A (p.Cys10Ser) c.1270T>A (p.Cys424Ser) c.1177T>A (p.Cys393Ser) c.1129T>A (p.Cys377Ser) | |
1 | g.197055797T>A | CA344001269 | F13B | c.1272A>T (p.Arg424Ser) c.27A>T (p.Arg9Ser) c.1269A>T (p.Arg423Ser) c.1176A>T (p.Arg392Ser) c.1128A>T (p.Arg376Ser) | dbSNP gnomAD v4 |
1 | g.197055797T>C | CA422667820 | F13B | c.1272A>G (p.Arg424=) c.27A>G (p.Arg9=) c.1269A>G (p.Arg423=) c.1176A>G (p.Arg392=) c.1128A>G (p.Arg376=) | dbSNP |
1 | g.197055797T>G | CA344001270 | F13B | c.1272A>C (p.Arg424Ser) c.27A>C (p.Arg9Ser) c.1269A>C (p.Arg423Ser) c.1176A>C (p.Arg392Ser) c.1128A>C (p.Arg376Ser) | |
1 | g.197055797T= | CA1217911230 | F13B | c.1272A= (p.Arg424=) c.27A= (p.Arg9=) c.1269A= (p.Arg423=) c.1176A= (p.Arg392=) c.1128A= (p.Arg376=) | |
1 | g.197055798C>A | CA344001272 | F13B | c.1271G>T (p.Arg424Ile) c.26G>T (p.Arg9Ile) c.1268G>T (p.Arg423Ile) c.1175G>T (p.Arg392Ile) c.1127G>T (p.Arg376Ile) | |
1 | g.197055798C>G | CA344001275 | F13B | c.1271G>C (p.Arg424Thr) c.26G>C (p.Arg9Thr) c.1268G>C (p.Arg423Thr) c.1175G>C (p.Arg392Thr) c.1127G>C (p.Arg376Thr) | |
1 | g.197055798C>T | CA344001276 | F13B | c.1271G>A (p.Arg424Lys) c.26G>A (p.Arg9Lys) c.1268G>A (p.Arg423Lys) c.1175G>A (p.Arg392Lys) c.1127G>A (p.Arg376Lys) | |
1 | g.197055798dup | CA1010902816 | F13B | c.1271dup (p.Cys425MetfsTer3) c.26dup (p.Cys10MetfsTer3) c.1268dup (p.Cys424MetfsTer3) c.1175dup (p.Cys393MetfsTer3) c.1127dup (p.Cys377MetfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197055799T>A | CA344001279 | F13B | c.1270A>T (p.Arg424Ter) c.25A>T (p.Arg9Ter) c.1267A>T (p.Arg423Ter) c.1174A>T (p.Arg392Ter) c.1126A>T (p.Arg376Ter) | |
1 | g.197055799T>C | CA35873321 | F13B | c.1270A>G (p.Arg424Gly) c.25A>G (p.Arg9Gly) c.1267A>G (p.Arg423Gly) c.1174A>G (p.Arg392Gly) c.1126A>G (p.Arg376Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197055799T>G | CA422667822 | F13B | c.1270A>C (p.Arg424=) c.25A>C (p.Arg9=) c.1267A>C (p.Arg423=) c.1174A>C (p.Arg392=) c.1126A>C (p.Arg376=) | |
1 | g.197055799T= | CA1217911231 | F13B | c.1270A= (p.Arg424=) c.25A= (p.Arg9=) c.1267A= (p.Arg423=) c.1174A= (p.Arg392=) c.1126A= (p.Arg376=) | |
1 | g.197055800A= | CA1217911232 | F13B | c.1269T= (p.Tyr423=) c.24T= (p.Tyr8=) c.1266T= (p.Tyr422=) c.1173T= (p.Tyr391=) c.1125T= (p.Tyr375=) | |
1 | g.197055800A>C | CA344001282 | F13B | c.1269T>G (p.Tyr423Ter) c.24T>G (p.Tyr8Ter) c.1266T>G (p.Tyr422Ter) c.1173T>G (p.Tyr391Ter) c.1125T>G (p.Tyr375Ter) | |
1 | g.197055800A>G | CA35873323 | F13B | c.1269T>C (p.Tyr423=) c.24T>C (p.Tyr8=) c.1266T>C (p.Tyr422=) c.1173T>C (p.Tyr391=) c.1125T>C (p.Tyr375=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055800A>T | CA344001284 | F13B | c.1269T>A (p.Tyr423Ter) c.24T>A (p.Tyr8Ter) c.1266T>A (p.Tyr422Ter) c.1173T>A (p.Tyr391Ter) c.1125T>A (p.Tyr375Ter) | |
1 | g.197055801T>A | CA344001289 | F13B | c.1268A>T (p.Tyr423Phe) c.23A>T (p.Tyr8Phe) c.1265A>T (p.Tyr422Phe) c.1172A>T (p.Tyr391Phe) c.1124A>T (p.Tyr375Phe) | |
1 | g.197055801T>C | CA344001292 | F13B | c.1268A>G (p.Tyr423Cys) c.23A>G (p.Tyr8Cys) c.1265A>G (p.Tyr422Cys) c.1172A>G (p.Tyr391Cys) c.1124A>G (p.Tyr375Cys) | |
1 | g.197055801T>G | CA344001287 | F13B | c.1268A>C (p.Tyr423Ser) c.23A>C (p.Tyr8Ser) c.1265A>C (p.Tyr422Ser) c.1172A>C (p.Tyr391Ser) c.1124A>C (p.Tyr375Ser) | |
1 | g.197055802A>C | CA344001299 | F13B | c.1267T>G (p.Tyr423Asp) c.22T>G (p.Tyr8Asp) c.1264T>G (p.Tyr422Asp) c.1171T>G (p.Tyr391Asp) c.1123T>G (p.Tyr375Asp) | |
1 | g.197055802A>G | CA344001295 | F13B | c.1267T>C (p.Tyr423His) c.22T>C (p.Tyr8His) c.1264T>C (p.Tyr422His) c.1171T>C (p.Tyr391His) c.1123T>C (p.Tyr375His) | |
1 | g.197055802A>T | CA344001297 | F13B | c.1267T>A (p.Tyr423Asn) c.22T>A (p.Tyr8Asn) c.1264T>A (p.Tyr422Asn) c.1171T>A (p.Tyr391Asn) c.1123T>A (p.Tyr375Asn) | |
1 | g.197055803T>A | CA344001300 | F13B | c.1266A>T (p.Glu422Asp) c.21A>T (p.Glu7Asp) c.1263A>T (p.Glu421Asp) c.1170A>T (p.Glu390Asp) c.1122A>T (p.Glu374Asp) | |
1 | g.197055803T>C | CA422667824 | F13B | c.1266A>G (p.Glu422=) c.21A>G (p.Glu7=) c.1263A>G (p.Glu421=) c.1170A>G (p.Glu390=) c.1122A>G (p.Glu374=) | gnomAD v4 |
1 | g.197055803T>G | CA344001302 | F13B | c.1266A>C (p.Glu422Asp) c.21A>C (p.Glu7Asp) c.1263A>C (p.Glu421Asp) c.1170A>C (p.Glu390Asp) c.1122A>C (p.Glu374Asp) | |
1 | g.197055804T>A | CA344001305 | F13B | c.1265A>T (p.Glu422Val) c.20A>T (p.Glu7Val) c.1262A>T (p.Glu421Val) c.1169A>T (p.Glu390Val) c.1121A>T (p.Glu374Val) | |
1 | g.197055804T>C | CA344001306 | F13B | c.1265A>G (p.Glu422Gly) c.20A>G (p.Glu7Gly) c.1262A>G (p.Glu421Gly) c.1169A>G (p.Glu390Gly) c.1121A>G (p.Glu374Gly) | gnomAD v4 |
1 | g.197055804T>G | CA344001308 | F13B | c.1265A>C (p.Glu422Ala) c.20A>C (p.Glu7Ala) c.1262A>C (p.Glu421Ala) c.1169A>C (p.Glu390Ala) c.1121A>C (p.Glu374Ala) | |
1 | g.197055805C>A | CA344001311 | F13B | c.1264G>T (p.Glu422Ter) c.19G>T (p.Glu7Ter) c.1261G>T (p.Glu421Ter) c.1168G>T (p.Glu390Ter) c.1120G>T (p.Glu374Ter) | |
1 | g.197055805C>G | CA344001312 | F13B | c.1264G>C (p.Glu422Gln) c.19G>C (p.Glu7Gln) c.1261G>C (p.Glu421Gln) c.1168G>C (p.Glu390Gln) c.1120G>C (p.Glu374Gln) | |
1 | g.197055805C>T | CA344001316 | F13B | c.1264G>A (p.Glu422Lys) c.19G>A (p.Glu7Lys) c.1261G>A (p.Glu421Lys) c.1168G>A (p.Glu390Lys) c.1120G>A (p.Glu374Lys) | |
1 | g.197055806C>A | CA422667825 | F13B | c.1263G>T (p.Val421=) c.18G>T (p.Val6=) c.1260G>T (p.Val420=) c.1167G>T (p.Val389=) c.1119G>T (p.Val373=) | |
1 | g.197055806C>G | CA422667826 | F13B | c.1263G>C (p.Val421=) c.18G>C (p.Val6=) c.1260G>C (p.Val420=) c.1167G>C (p.Val389=) c.1119G>C (p.Val373=) | |
1 | g.197055806C>T | CA422667827 | F13B | c.1263G>A (p.Val421=) c.18G>A (p.Val6=) c.1260G>A (p.Val420=) c.1167G>A (p.Val389=) c.1119G>A (p.Val373=) | gnomAD v4 COSMIC |
1 | g.197055807A= | CA1217911233 | F13B | c.1262T= (p.Val421=) c.17T= (p.Val6=) c.1259T= (p.Val420=) c.1166T= (p.Val389=) c.1118T= (p.Val373=) | |
1 | g.197055807A>C | CA344001319 | F13B | c.1262T>G (p.Val421Gly) c.17T>G (p.Val6Gly) c.1259T>G (p.Val420Gly) c.1166T>G (p.Val389Gly) c.1118T>G (p.Val373Gly) | |
1 | g.197055807A>G | CA344001321 | F13B | c.1262T>C (p.Val421Ala) c.17T>C (p.Val6Ala) c.1259T>C (p.Val420Ala) c.1166T>C (p.Val389Ala) c.1118T>C (p.Val373Ala) | |
1 | g.197055807A>T | CA344001323 | F13B | c.1262T>A (p.Val421Glu) c.17T>A (p.Val6Glu) c.1259T>A (p.Val420Glu) c.1166T>A (p.Val389Glu) c.1118T>A (p.Val373Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197055808C>A | CA344001330 | F13B | c.1261G>T (p.Val421Leu) c.16G>T (p.Val6Leu) c.1258G>T (p.Val420Leu) c.1165G>T (p.Val389Leu) c.1117G>T (p.Val373Leu) | |
1 | g.197055808C>G | CA344001325 | F13B | c.1261G>C (p.Val421Leu) c.16G>C (p.Val6Leu) c.1258G>C (p.Val420Leu) c.1165G>C (p.Val389Leu) c.1117G>C (p.Val373Leu) | |
1 | g.197055808C>T | CA344001327 | F13B | c.1261G>A (p.Val421Met) c.16G>A (p.Val6Met) c.1258G>A (p.Val420Met) c.1165G>A (p.Val389Met) c.1117G>A (p.Val373Met) | |
1 | g.197055809T>A | CA1308372 | F13B | c.1260A>T (p.Ser420=) c.15A>T (p.Ser5=) c.1257A>T (p.Ser419=) c.1164A>T (p.Ser388=) c.1116A>T (p.Ser372=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197055809T>C | CA422667831 | F13B | c.1260A>G (p.Ser420=) c.15A>G (p.Ser5=) c.1257A>G (p.Ser419=) c.1164A>G (p.Ser388=) c.1116A>G (p.Ser372=) | gnomAD v4 |
1 | g.197055809T>G | CA422667830 | F13B | c.1260A>C (p.Ser420=) c.15A>C (p.Ser5=) c.1257A>C (p.Ser419=) c.1164A>C (p.Ser388=) c.1116A>C (p.Ser372=) | dbSNP gnomAD v2 |
1 | g.197055809T= | CA1217911234 | F13B | c.1260A= (p.Ser420=) c.15A= (p.Ser5=) c.1257A= (p.Ser419=) c.1164A= (p.Ser388=) c.1116A= (p.Ser372=) | |
1 | g.197055810G>A | CA344001333 | F13B | c.1259C>T (p.Ser420Leu) c.14C>T (p.Ser5Leu) c.1256C>T (p.Ser419Leu) c.1163C>T (p.Ser388Leu) c.1115C>T (p.Ser372Leu) | |
1 | g.197055810G>C | CA344001335 | F13B | c.1259C>G (p.Ser420Ter) c.14C>G (p.Ser5Ter) c.1256C>G (p.Ser419Ter) c.1163C>G (p.Ser388Ter) c.1115C>G (p.Ser372Ter) | |
1 | g.197055810G>T | CA344001338 | F13B | c.1259C>A (p.Ser420Ter) c.14C>A (p.Ser5Ter) c.1256C>A (p.Ser419Ter) c.1163C>A (p.Ser388Ter) c.1115C>A (p.Ser372Ter) | |
1 | g.197055811A= | CA1217911235 | F13B | c.1258T= (p.Ser420=) c.13T= (p.Ser5=) c.1255T= (p.Ser419=) c.1162T= (p.Ser388=) c.1114T= (p.Ser372=) | |
1 | g.197055811A>C | CA344001340 | F13B | c.1258T>G (p.Ser420Ala) c.13T>G (p.Ser5Ala) c.1255T>G (p.Ser419Ala) c.1162T>G (p.Ser388Ala) c.1114T>G (p.Ser372Ala) | dbSNP |
1 | g.197055811A>G | CA344001341 | F13B | c.1258T>C (p.Ser420Pro) c.13T>C (p.Ser5Pro) c.1255T>C (p.Ser419Pro) c.1162T>C (p.Ser388Pro) c.1114T>C (p.Ser372Pro) | |
1 | g.197055811A>T | CA344001343 | F13B | c.1258T>A (p.Ser420Thr) c.13T>A (p.Ser5Thr) c.1255T>A (p.Ser419Thr) c.1162T>A (p.Ser388Thr) c.1114T>A (p.Ser372Thr) | |
1 | g.197055812G>A | CA422667832 | F13B | c.1257C>T (p.Ser419=) c.12C>T (p.Ser4=) c.1254C>T (p.Ser418=) c.1161C>T (p.Ser387=) c.1113C>T (p.Ser371=) | gnomAD v4 |
1 | g.197055812G>C | CA422667833 | F13B | c.1257C>G (p.Ser419=) c.12C>G (p.Ser4=) c.1254C>G (p.Ser418=) c.1161C>G (p.Ser387=) c.1113C>G (p.Ser371=) | |
1 | g.197055812G= | CA1217911236 | F13B | c.1257C= (p.Ser419=) c.12C= (p.Ser4=) c.1254C= (p.Ser418=) c.1161C= (p.Ser387=) c.1113C= (p.Ser371=) | |
1 | g.197055812G>T | CA1308373 | F13B | c.1257C>A (p.Ser419=) c.12C>A (p.Ser4=) c.1254C>A (p.Ser418=) c.1161C>A (p.Ser387=) c.1113C>A (p.Ser371=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055813G>A | CA35873326 | F13B | c.1256C>T (p.Ser419Phe) c.11C>T (p.Ser4Phe) c.1253C>T (p.Ser418Phe) c.1160C>T (p.Ser387Phe) c.1112C>T (p.Ser371Phe) | dbSNP gnomAD v4 COSMIC |
1 | g.197055813G>C | CA344001347 | F13B | c.1256C>G (p.Ser419Cys) c.11C>G (p.Ser4Cys) c.1253C>G (p.Ser418Cys) c.1160C>G (p.Ser387Cys) c.1112C>G (p.Ser371Cys) | |
1 | g.197055813G= | CA1217911237 | F13B | c.1256C= (p.Ser419=) c.11C= (p.Ser4=) c.1253C= (p.Ser418=) c.1160C= (p.Ser387=) c.1112C= (p.Ser371=) | |
1 | g.197055813G>T | CA344001349 | F13B | c.1256C>A (p.Ser419Tyr) c.11C>A (p.Ser4Tyr) c.1253C>A (p.Ser418Tyr) c.1160C>A (p.Ser387Tyr) c.1112C>A (p.Ser371Tyr) | |
1 | g.197055814A>C | CA344001355 | F13B | c.1255T>G (p.Ser419Ala) c.10T>G (p.Ser4Ala) c.1252T>G (p.Ser418Ala) c.1159T>G (p.Ser387Ala) c.1111T>G (p.Ser371Ala) | |
1 | g.197055814A>G | CA344001353 | F13B | c.1255T>C (p.Ser419Pro) c.10T>C (p.Ser4Pro) c.1252T>C (p.Ser418Pro) c.1159T>C (p.Ser387Pro) c.1111T>C (p.Ser371Pro) | gnomAD v4 |
1 | g.197055814A>T | CA344001351 | F13B | c.1255T>A (p.Ser419Thr) c.10T>A (p.Ser4Thr) c.1252T>A (p.Ser418Thr) c.1159T>A (p.Ser387Thr) c.1111T>A (p.Ser371Thr) | |
1 | g.197055815T>A | CA422667835 | F13B | c.1254A>T (p.Gly418=) c.9A>T (p.Gly3=) c.1251A>T (p.Gly417=) c.1158A>T (p.Gly386=) c.1110A>T (p.Gly370=) | |
1 | g.197055815T>C | CA422667836 | F13B | c.1254A>G (p.Gly418=) c.9A>G (p.Gly3=) c.1251A>G (p.Gly417=) c.1158A>G (p.Gly386=) c.1110A>G (p.Gly370=) | |
1 | g.197055815T>G | CA422667837 | F13B | c.1254A>C (p.Gly418=) c.9A>C (p.Gly3=) c.1251A>C (p.Gly417=) c.1158A>C (p.Gly386=) c.1110A>C (p.Gly370=) | |
1 | g.197055816C>A | CA344001357 | F13B | c.1253G>T (p.Gly418Val) c.8G>T (p.Gly3Val) c.1250G>T (p.Gly417Val) c.1157G>T (p.Gly386Val) c.1109G>T (p.Gly370Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055816C= | CA1217911238 | F13B | c.1253G= (p.Gly418=) c.8G= (p.Gly3=) c.1250G= (p.Gly417=) c.1157G= (p.Gly386=) c.1109G= (p.Gly370=) | |
1 | g.197055816C>G | CA344001359 | F13B | c.1253G>C (p.Gly418Ala) c.8G>C (p.Gly3Ala) c.1250G>C (p.Gly417Ala) c.1157G>C (p.Gly386Ala) c.1109G>C (p.Gly370Ala) | |
1 | g.197055816C>T | CA344001362 | F13B | c.1253G>A (p.Gly418Glu) c.8G>A (p.Gly3Glu) c.1250G>A (p.Gly417Glu) c.1157G>A (p.Gly386Glu) c.1109G>A (p.Gly370Glu) | COSMIC |
1 | g.197055817C>A | CA344001363 | F13B | c.1252G>T (p.Gly418Ter) c.7G>T (p.Gly3Ter) c.1249G>T (p.Gly417Ter) c.1156G>T (p.Gly386Ter) c.1108G>T (p.Gly370Ter) | |
1 | g.197055817C= | CA1217911239 | F13B | c.1252G= (p.Gly418=) c.7G= (p.Gly3=) c.1249G= (p.Gly417=) c.1156G= (p.Gly386=) c.1108G= (p.Gly370=) | |
1 | g.197055817C>G | CA344001366 | F13B | c.1252G>C (p.Gly418Arg) c.7G>C (p.Gly3Arg) c.1249G>C (p.Gly417Arg) c.1156G>C (p.Gly386Arg) c.1108G>C (p.Gly370Arg) | dbSNP |
1 | g.197055817C>T | CA344001367 | F13B | c.1252G>A (p.Gly418Arg) c.7G>A (p.Gly3Arg) c.1249G>A (p.Gly417Arg) c.1156G>A (p.Gly386Arg) c.1108G>A (p.Gly370Arg) | |
1 | g.197055818T>A | CA422667841 | F13B | c.1251A>T (p.Thr417=) c.6A>T (p.Thr2=) c.1248A>T (p.Thr416=) c.1155A>T (p.Thr385=) c.1107A>T (p.Thr369=) | |
1 | g.197055818T>C | CA1308374 | F13B | c.1251A>G (p.Thr417=) c.6A>G (p.Thr2=) c.1248A>G (p.Thr416=) c.1155A>G (p.Thr385=) c.1107A>G (p.Thr369=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055818T>G | CA422667842 | F13B | c.1251A>C (p.Thr417=) c.6A>C (p.Thr2=) c.1248A>C (p.Thr416=) c.1155A>C (p.Thr385=) c.1107A>C (p.Thr369=) | |
1 | g.197055818T= | CA1217911240 | F13B | c.1251A= (p.Thr417=) c.6A= (p.Thr2=) c.1248A= (p.Thr416=) c.1155A= (p.Thr385=) c.1107A= (p.Thr369=) | |
1 | g.197055819G>A | CA344001370 | F13B | c.1250C>T (p.Thr417Ile) c.5C>T (p.Thr2Ile) c.1247C>T (p.Thr416Ile) c.1154C>T (p.Thr385Ile) c.1106C>T (p.Thr369Ile) | gnomAD v4 |
1 | g.197055819G>C | CA344001379 | F13B | c.1250C>G (p.Thr417Arg) c.5C>G (p.Thr2Arg) c.1247C>G (p.Thr416Arg) c.1154C>G (p.Thr385Arg) c.1106C>G (p.Thr369Arg) | |
1 | g.197055819G= | CA1217911241 | F13B | c.1250C= (p.Thr417=) c.5C= (p.Thr2=) c.1247C= (p.Thr416=) c.1154C= (p.Thr385=) c.1106C= (p.Thr369=) | |
1 | g.197055819G>T | CA344001381 | F13B | c.1250C>A (p.Thr417Lys) c.5C>A (p.Thr2Lys) c.1247C>A (p.Thr416Lys) c.1154C>A (p.Thr385Lys) c.1106C>A (p.Thr369Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197055820T>A | CA344001385 | F13B | c.1249A>T (p.Thr417Ser) c.4A>T (p.Thr2Ser) c.1246A>T (p.Thr416Ser) c.1153A>T (p.Thr385Ser) c.1105A>T (p.Thr369Ser) | |
1 | g.197055820T>C | CA344001387 | F13B | c.1249A>G (p.Thr417Ala) c.4A>G (p.Thr2Ala) c.1246A>G (p.Thr416Ala) c.1153A>G (p.Thr385Ala) c.1105A>G (p.Thr369Ala) | dbSNP gnomAD v4 |
1 | g.197055820T>G | CA344001390 | F13B | c.1249A>C (p.Thr417Pro) c.4A>C (p.Thr2Pro) c.1246A>C (p.Thr416Pro) c.1153A>C (p.Thr385Pro) c.1105A>C (p.Thr369Pro) | |
1 | g.197055820T= | CA1217911242 | F13B | c.1249A= (p.Thr417=) c.4A= (p.Thr2=) c.1246A= (p.Thr416=) c.1153A= (p.Thr385=) c.1105A= (p.Thr369=) | |
1 | g.197055821T>A | CA422667843 | F13B | c.1248A>T (p.Ala416=) c.3A>T (p.Ala1=) c.1245A>T (p.Ala415=) c.1152A>T (p.Ala384=) c.1104A>T (p.Ala368=) | |
1 | g.197055821T>C | CA422667844 | F13B | c.1248A>G (p.Ala416=) c.3A>G (p.Ala1=) c.1245A>G (p.Ala415=) c.1152A>G (p.Ala384=) c.1104A>G (p.Ala368=) | |
1 | g.197055821T>G | CA422667845 | F13B | c.1248A>C (p.Ala416=) c.3A>C (p.Ala1=) c.1245A>C (p.Ala415=) c.1152A>C (p.Ala384=) c.1104A>C (p.Ala368=) | |
1 | g.197055822G>A | CA344001394 | F13B | c.1247C>T (p.Ala416Val) c.2C>T (p.Ala1Val) c.1244C>T (p.Ala415Val) c.1151C>T (p.Ala384Val) c.1103C>T (p.Ala368Val) | gnomAD v4 |
1 | g.197055822G>C | CA344001391 | F13B | c.1247C>G (p.Ala416Gly) c.2C>G (p.Ala1Gly) c.1244C>G (p.Ala415Gly) c.1151C>G (p.Ala384Gly) c.1103C>G (p.Ala368Gly) | |
1 | g.197055822G= | CA1217911243 | F13B | c.1247C= (p.Ala416=) c.2C= (p.Ala1=) c.1244C= (p.Ala415=) c.1151C= (p.Ala384=) c.1103C= (p.Ala368=) | |
1 | g.197055822G>T | CA1308375 | F13B | c.1247C>A (p.Ala416Glu) c.2C>A (p.Ala1Glu) c.1244C>A (p.Ala415Glu) c.1151C>A (p.Ala384Glu) c.1103C>A (p.Ala368Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197055823C>A | CA344001397 | F13B | c.1246G>T (p.Ala416Ser) c.1G>T (p.Ala1Ser) c.1243G>T (p.Ala415Ser) c.1150G>T (p.Ala384Ser) c.1102G>T (p.Ala368Ser) | |
1 | g.197055823C>G | CA344001400 | F13B | c.1246G>C (p.Ala416Pro) c.1G>C (p.Ala1Pro) c.1243G>C (p.Ala415Pro) c.1150G>C (p.Ala384Pro) c.1102G>C (p.Ala368Pro) | |
1 | g.197055823C>T | CA344001401 | F13B | c.1246G>A (p.Ala416Thr) c.1G>A (p.Ala1Thr) c.1243G>A (p.Ala415Thr) c.1150G>A (p.Ala384Thr) c.1102G>A (p.Ala368Thr) | |
1 | g.197055824A>C | CA344001404 | F13B | c.1245T>G (p.Tyr415Ter) c.1242T>G (p.Tyr414Ter) c.1149T>G (p.Tyr383Ter) c.1101T>G (p.Tyr367Ter) | |
1 | g.197055824A>G | CA422667849 | F13B | c.1245T>C (p.Tyr415=) c.1242T>C (p.Tyr414=) c.1149T>C (p.Tyr383=) c.1101T>C (p.Tyr367=) | |
1 | g.197055824A>T | CA344001405 | F13B | c.1245T>A (p.Tyr415Ter) c.1242T>A (p.Tyr414Ter) c.1149T>A (p.Tyr383Ter) c.1101T>A (p.Tyr367Ter) | |
1 | g.197055825T>A | CA344001407 | F13B | c.1244A>T (p.Tyr415Phe) c.1241A>T (p.Tyr414Phe) c.1148A>T (p.Tyr383Phe) c.1100A>T (p.Tyr367Phe) | |
1 | g.197055825T>C | CA344001409 | F13B | c.1244A>G (p.Tyr415Cys) c.1241A>G (p.Tyr414Cys) c.1148A>G (p.Tyr383Cys) c.1100A>G (p.Tyr367Cys) | |
1 | g.197055825T>G | CA1308376 | F13B | c.1244A>C (p.Tyr415Ser) c.1241A>C (p.Tyr414Ser) c.1148A>C (p.Tyr383Ser) c.1100A>C (p.Tyr367Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197055825T= | CA1217911244 | F13B | c.1244A= (p.Tyr415=) c.1241A= (p.Tyr414=) c.1148A= (p.Tyr383=) c.1100A= (p.Tyr367=) | |
1 | g.197055826A>C | CA344001411 | F13B | c.1243T>G (p.Tyr415Asp) c.1240T>G (p.Tyr414Asp) c.1147T>G (p.Tyr383Asp) c.1099T>G (p.Tyr367Asp) | |
1 | g.197055826A>G | CA344001413 | F13B | c.1243T>C (p.Tyr415His) c.1240T>C (p.Tyr414His) c.1147T>C (p.Tyr383His) c.1099T>C (p.Tyr367His) | |
1 | g.197055826A>T | CA344001414 | F13B | c.1243T>A (p.Tyr415Asn) c.1240T>A (p.Tyr414Asn) c.1147T>A (p.Tyr383Asn) c.1099T>A (p.Tyr367Asn) | |
1 | g.197055827G>A | CA422667850 | F13B | c.1242C>T (p.Ser414=) c.1239C>T (p.Ser413=) c.1146C>T (p.Ser382=) c.1098C>T (p.Ser366=) | |
1 | g.197055827G>C | CA344001416 | F13B | c.1242C>G (p.Ser414Arg) c.1239C>G (p.Ser413Arg) c.1146C>G (p.Ser382Arg) c.1098C>G (p.Ser366Arg) | |
1 | g.197055827G= | CA1217911245 | F13B | c.1242C= (p.Ser414=) c.1239C= (p.Ser413=) c.1146C= (p.Ser382=) c.1098C= (p.Ser366=) | |
1 | g.197055827G>T | CA1308377 | F13B | c.1242C>A (p.Ser414Arg) c.1239C>A (p.Ser413Arg) c.1146C>A (p.Ser382Arg) c.1098C>A (p.Ser366Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197055828C>A | CA344001421 | F13B | c.1241G>T (p.Ser414Ile) c.1238G>T (p.Ser413Ile) c.1145G>T (p.Ser382Ile) c.1097G>T (p.Ser366Ile) | |
1 | g.197055828C= | CA1217911246 | F13B | c.1241G= (p.Ser414=) c.1238G= (p.Ser413=) c.1145G= (p.Ser382=) c.1097G= (p.Ser366=) | |
1 | g.197055828C>G | CA344001422 | F13B | c.1241G>C (p.Ser414Thr) c.1238G>C (p.Ser413Thr) c.1145G>C (p.Ser382Thr) c.1097G>C (p.Ser366Thr) | |
1 | g.197055828C>T | CA344001419 | F13B | c.1241G>A (p.Ser414Asn) c.1238G>A (p.Ser413Asn) c.1145G>A (p.Ser382Asn) c.1097G>A (p.Ser366Asn) | dbSNP gnomAD v4 |