| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197055720C>A | CA126610 | F13B | c.1349G>T (p.Cys450Phe) c.104G>T (p.Cys35Phe) c.1346G>T (p.Cys449Phe) c.1253G>T (p.Cys418Phe) c.1205G>T (p.Cys402Phe) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197055720C= | CA1141581327 | F13B | c.1349G= (p.Cys450=) c.104G= (p.Cys35=) c.1346G= (p.Cys449=) c.1253G= (p.Cys418=) c.1205G= (p.Cys402=) | |
| 1 | g.197055720C>G | CA344000877 | F13B | c.1349G>C (p.Cys450Ser) c.104G>C (p.Cys35Ser) c.1346G>C (p.Cys449Ser) c.1253G>C (p.Cys418Ser) c.1205G>C (p.Cys402Ser) | |
| 1 | g.197055720C>T | CA344000880 | F13B | c.1349G>A (p.Cys450Tyr) c.104G>A (p.Cys35Tyr) c.1346G>A (p.Cys449Tyr) c.1253G>A (p.Cys418Tyr) c.1205G>A (p.Cys402Tyr) | |
| 1 | g.197055721A>C | CA344000882 | F13B | c.1348T>G (p.Cys450Gly) c.103T>G (p.Cys35Gly) c.1345T>G (p.Cys449Gly) c.1252T>G (p.Cys418Gly) c.1204T>G (p.Cys402Gly) | ClinVar |
| 1 | g.197055721A>G | CA344000884 | F13B | c.1348T>C (p.Cys450Arg) c.103T>C (p.Cys35Arg) c.1345T>C (p.Cys449Arg) c.1252T>C (p.Cys418Arg) c.1204T>C (p.Cys402Arg) | |
| 1 | g.197055721A>T | CA344000886 | F13B | c.1348T>A (p.Cys450Ser) c.103T>A (p.Cys35Ser) c.1345T>A (p.Cys449Ser) c.1252T>A (p.Cys418Ser) c.1204T>A (p.Cys402Ser) | |
| 1 | g.197055722A>C | CA422667760 | F13B | c.1347T>G (p.Val449=) c.102T>G (p.Val34=) c.1344T>G (p.Val448=) c.1251T>G (p.Val417=) c.1203T>G (p.Val401=) | |
| 1 | g.197055722A>G | CA422667761 | F13B | c.1347T>C (p.Val449=) c.102T>C (p.Val34=) c.1344T>C (p.Val448=) c.1251T>C (p.Val417=) c.1203T>C (p.Val401=) | |
| 1 | g.197055722A>T | CA422667762 | F13B | c.1347T>A (p.Val449=) c.102T>A (p.Val34=) c.1344T>A (p.Val448=) c.1251T>A (p.Val417=) c.1203T>A (p.Val401=) | |
| 1 | g.197055723A>C | CA344000890 | F13B | c.1346T>G (p.Val449Gly) c.101T>G (p.Val34Gly) c.1343T>G (p.Val448Gly) c.1250T>G (p.Val417Gly) c.1202T>G (p.Val401Gly) | |
| 1 | g.197055723A>G | CA344000892 | F13B | c.1346T>C (p.Val449Ala) c.101T>C (p.Val34Ala) c.1343T>C (p.Val448Ala) c.1250T>C (p.Val417Ala) c.1202T>C (p.Val401Ala) | |
| 1 | g.197055723A>T | CA344000893 | F13B | c.1346T>A (p.Val449Asp) c.101T>A (p.Val34Asp) c.1343T>A (p.Val448Asp) c.1250T>A (p.Val417Asp) c.1202T>A (p.Val401Asp) | |
| 1 | g.197055724C>A | CA344000903 | F13B | c.1345G>T (p.Val449Phe) c.100G>T (p.Val34Phe) c.1342G>T (p.Val448Phe) c.1249G>T (p.Val417Phe) c.1201G>T (p.Val401Phe) | |
| 1 | g.197055724C= | CA1217911203 | F13B | c.1345G= (p.Val449=) c.100G= (p.Val34=) c.1342G= (p.Val448=) c.1249G= (p.Val417=) c.1201G= (p.Val401=) | |
| 1 | g.197055724C>G | CA344000899 | F13B | c.1345G>C (p.Val449Leu) c.100G>C (p.Val34Leu) c.1342G>C (p.Val448Leu) c.1249G>C (p.Val417Leu) c.1201G>C (p.Val401Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197055724C>T | CA344000896 | F13B | c.1345G>A (p.Val449Ile) c.100G>A (p.Val34Ile) c.1342G>A (p.Val448Ile) c.1249G>A (p.Val417Ile) c.1201G>A (p.Val401Ile) | dbSNP gnomAD v4 |
| 1 | g.197055725A>C | CA422667763 | F13B | c.1344T>G (p.Pro448=) c.99T>G (p.Pro33=) c.1341T>G (p.Pro447=) c.1248T>G (p.Pro416=) c.1200T>G (p.Pro400=) | |
| 1 | g.197055725A>G | CA422667765 | F13B | c.1344T>C (p.Pro448=) c.99T>C (p.Pro33=) c.1341T>C (p.Pro447=) c.1248T>C (p.Pro416=) c.1200T>C (p.Pro400=) | |
| 1 | g.197055725A>T | CA422667766 | F13B | c.1344T>A (p.Pro448=) c.99T>A (p.Pro33=) c.1341T>A (p.Pro447=) c.1248T>A (p.Pro416=) c.1200T>A (p.Pro400=) | |
| 1 | g.197055726G>A | CA344000905 | F13B | c.1343C>T (p.Pro448Leu) c.98C>T (p.Pro33Leu) c.1340C>T (p.Pro447Leu) c.1247C>T (p.Pro416Leu) c.1199C>T (p.Pro400Leu) | COSMIC |
| 1 | g.197055726G>C | CA1308350 | F13B | c.1343C>G (p.Pro448Arg) c.98C>G (p.Pro33Arg) c.1340C>G (p.Pro447Arg) c.1247C>G (p.Pro416Arg) c.1199C>G (p.Pro400Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197055726G= | CA1217911204 | F13B | c.1343C= (p.Pro448=) c.98C= (p.Pro33=) c.1340C= (p.Pro447=) c.1247C= (p.Pro416=) c.1199C= (p.Pro400=) | |
| 1 | g.197055726G>T | CA344000907 | F13B | c.1343C>A (p.Pro448His) c.98C>A (p.Pro33His) c.1340C>A (p.Pro447His) c.1247C>A (p.Pro416His) c.1199C>A (p.Pro400His) | |
| 1 | g.197055727G>A | CA344000909 | F13B | c.1342C>T (p.Pro448Ser) c.97C>T (p.Pro33Ser) c.1339C>T (p.Pro447Ser) c.1246C>T (p.Pro416Ser) c.1198C>T (p.Pro400Ser) | gnomAD v4 |
| 1 | g.197055727G>C | CA344000911 | F13B | c.1342C>G (p.Pro448Ala) c.97C>G (p.Pro33Ala) c.1339C>G (p.Pro447Ala) c.1246C>G (p.Pro416Ala) c.1198C>G (p.Pro400Ala) | |
| 1 | g.197055727G= | CA1217911205 | F13B | c.1342C= (p.Pro448=) c.97C= (p.Pro33=) c.1339C= (p.Pro447=) c.1246C= (p.Pro416=) c.1198C= (p.Pro400=) | |
| 1 | g.197055727G>T | CA344000910 | F13B | c.1342C>A (p.Pro448Thr) c.97C>A (p.Pro33Thr) c.1339C>A (p.Pro447Thr) c.1246C>A (p.Pro416Thr) c.1198C>A (p.Pro400Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 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 |