| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.139551025_139551347delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG | CA2461408577 | F9 | c.521-37_723+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG n.1188-37_1390+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG c.407-37_609+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG c.392-37_594+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG | |
| X | g.139551027_139551348del | CA915952348 | F9 | c.521-35_723+84del n.1188-35_1390+84del c.407-35_609+84del c.392-35_594+84del | ClinVar dbSNP |
| X | g.139551217C>A | CA518862124 | F9 | c.676C>A (p.Arg226=) n.1343C>A c.562C>A (p.Arg188=) c.547C>A (p.Arg183=) | COSMIC |
| X | g.139551217C= | CA2461408633 | F9 | c.676C= (p.Arg226=) n.1343C= c.562C= (p.Arg188=) c.547C= (p.Arg183=) | |
| X | g.139551217C>G | CA414441129 | F9 | c.676C>G (p.Arg226Gly) n.1343C>G c.562C>G (p.Arg188Gly) c.547C>G (p.Arg183Gly) | |
| X | g.139551217C>T | CA255350 | F9 | c.676C>T (p.Arg226Trp) n.1343C>T c.562C>T (p.Arg188Trp) c.547C>T (p.Arg183Trp) | ClinVar dbSNP COSMIC |
| X | g.139551218G>A | CA121128 | F9 | c.677G>A (p.Arg226Gln) n.1344G>A c.563G>A (p.Arg188Gln) c.548G>A (p.Arg183Gln) | ClinVar dbSNP |
| X | g.139551218G>C | CA414441132 | F9 | c.677G>C (p.Arg226Pro) n.1344G>C c.563G>C (p.Arg188Pro) c.548G>C (p.Arg183Pro) | |
| X | g.139551218G= | CA2461408634 | F9 | c.677G= (p.Arg226=) n.1344G= c.563G= (p.Arg188=) c.548G= (p.Arg183=) | |
| X | g.139551218G>T | CA414441137 | F9 | c.677G>T (p.Arg226Leu) n.1344G>T c.563G>T (p.Arg188Leu) c.548G>T (p.Arg183Leu) | dbSNP COSMIC |
| X | g.139551219G>A | CA518862129 | F9 | c.678G>A (p.Arg226=) n.1345G>A c.564G>A (p.Arg188=) c.549G>A (p.Arg183=) | |
| X | g.139551219G>C | CA518862130 | F9 | c.678G>C (p.Arg226=) n.1345G>C c.564G>C (p.Arg188=) c.549G>C (p.Arg183=) | |
| X | g.139551219G= | CA2461408635 | F9 | c.678G= (p.Arg226=) n.1345G= c.564G= (p.Arg188=) c.549G= (p.Arg183=) | |
| X | g.139551219G>T | CA518862132 | F9 | c.678G>T (p.Arg226=) n.1345G>T c.564G>T (p.Arg188=) c.549G>T (p.Arg183=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.139551220G>A | CA10529819 | F9 | c.679G>A (p.Val227Ile) n.1346G>A c.565G>A (p.Val189Ile) c.550G>A (p.Val184Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.139551220G>C | CA414441139 | F9 | c.679G>C (p.Val227Leu) n.1346G>C c.565G>C (p.Val189Leu) c.550G>C (p.Val184Leu) | |
| X | g.139551220G= | CA2461408636 | F9 | c.679G= (p.Val227=) n.1346G= c.565G= (p.Val189=) c.550G= (p.Val184=) | |
| X | g.139551220G>T | CA336137507 | F9 | c.679G>T (p.Val227Phe) n.1346G>T c.565G>T (p.Val189Phe) c.550G>T (p.Val184Phe) | dbSNP |
| X | g.139551221T>A | CA414441143 | F9 | c.680T>A (p.Val227Asp) n.1347T>A c.566T>A (p.Val189Asp) c.551T>A (p.Val184Asp) | |
| X | g.139551221T>C | CA414441145 | F9 | c.680T>C (p.Val227Ala) n.1347T>C c.566T>C (p.Val189Ala) c.551T>C (p.Val184Ala) | |
| X | g.139551221T>G | CA414441147 | F9 | c.680T>G (p.Val227Gly) n.1347T>G c.566T>G (p.Val189Gly) c.551T>G (p.Val184Gly) | |
| X | g.139551221_139551222insCAT | CA2695236202 | F9 | c.680_681insCAT (p.Val227_Val228insIle) n.1347_1348insCAT c.566_567insCAT (p.Val189_Val190insIle) c.551_552insCAT (p.Val184_Val185insIle) | |
| X | g.139551222dup | CA2695236203 | F9 | c.681dup (p.Val228CysfsTer20) n.1348dup c.567dup (p.Val190CysfsTer20) c.552dup (p.Val185CysfsTer20) | |
| X | g.139551222T>A | CA518862139 | F9 | c.681T>A (p.Val227=) n.1348T>A c.567T>A (p.Val189=) c.552T>A (p.Val184=) | |
| X | g.139551222T>C | CA518862140 | F9 | c.681T>C (p.Val227=) n.1348T>C c.567T>C (p.Val189=) c.552T>C (p.Val184=) | |
| X | g.139551222T>G | CA518862142 | F9 | c.681T>G (p.Val227=) n.1348T>G c.567T>G (p.Val189=) c.552T>G (p.Val184=) | |
| X | g.139551223G>A | CA414441149 | F9 | c.682G>A (p.Val228Ile) n.1349G>A c.568G>A (p.Val190Ile) c.553G>A (p.Val185Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.139551223G>C | CA121130 | F9 | c.682G>C (p.Val228Leu) n.1349G>C c.568G>C (p.Val190Leu) c.553G>C (p.Val185Leu) | ClinVar dbSNP |
| X | g.139551223G= | CA2461408637 | F9 | c.682G= (p.Val228=) n.1349G= c.568G= (p.Val190=) c.553G= (p.Val185=) | |
| X | g.139551223G>T | CA255355 | F9 | c.682G>T (p.Val228Phe) n.1349G>T c.568G>T (p.Val190Phe) c.553G>T (p.Val185Phe) | ClinVar dbSNP |
| X | g.139551224T>A | CA414441150 | F9 | c.683T>A (p.Val228Asp) n.1350T>A c.569T>A (p.Val190Asp) c.554T>A (p.Val185Asp) | |
| X | g.139551224T>C | CA414441152 | F9 | c.683T>C (p.Val228Ala) n.1350T>C c.569T>C (p.Val190Ala) c.554T>C (p.Val185Ala) | |
| X | g.139551224T>G | CA414441154 | F9 | c.683T>G (p.Val228Gly) n.1350T>G c.569T>G (p.Val190Gly) c.554T>G (p.Val185Gly) | |
| X | g.139551225dup | CA2695236205 | F9 | c.684dup (p.Gly229TrpfsTer19) n.1351dup c.570dup (p.Gly191TrpfsTer19) c.555dup (p.Gly186TrpfsTer19) | |
| X | g.139551225T>A | CA518862145 | F9 | c.684T>A (p.Val228=) n.1351T>A c.570T>A (p.Val190=) c.555T>A (p.Val185=) | |
| X | g.139551225T>C | CA518862147 | F9 | c.684T>C (p.Val228=) n.1351T>C c.570T>C (p.Val190=) c.555T>C (p.Val185=) | |
| X | g.139551225T>G | CA518862149 | F9 | c.684T>G (p.Val228=) n.1351T>G c.570T>G (p.Val190=) c.555T>G (p.Val185=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.139551225T= | CA2461408638 | F9 | c.684T= (p.Val228=) n.1351T= c.570T= (p.Val190=) c.555T= (p.Val185=) | |
| X | g.139551228_139551230del | CA891862623 | F9 | c.687_689del (p.Gly230del) n.1354_1356del c.573_575del (p.Gly192del) c.558_560del (p.Gly187del) | |
| X | g.139551226G>A | CA414441157 | F9 | c.685G>A (p.Gly229Ser) n.1352G>A c.571G>A (p.Gly191Ser) c.556G>A (p.Gly186Ser) | |
| X | g.139551226G>C | CA414441160 | F9 | c.685G>C (p.Gly229Arg) n.1352G>C c.571G>C (p.Gly191Arg) c.556G>C (p.Gly186Arg) | |
| X | g.139551226G= | CA2461408639 | F9 | c.685G= (p.Gly229=) n.1352G= c.571G= (p.Gly191=) c.556G= (p.Gly186=) | |
| X | g.139551226G>T | CA414441167 | F9 | c.685G>T (p.Gly229Cys) n.1352G>T c.571G>T (p.Gly191Cys) c.556G>T (p.Gly186Cys) | dbSNP |
| X | g.139551227G>A | CA414441171 | F9 | c.686G>A (p.Gly229Asp) n.1353G>A c.572G>A (p.Gly191Asp) c.557G>A (p.Gly186Asp) | |
| X | g.139551227G>C | CA414441173 | F9 | c.686G>C (p.Gly229Ala) n.1353G>C c.572G>C (p.Gly191Ala) c.557G>C (p.Gly186Ala) | |
| X | g.139551227G>T | CA414441172 | F9 | c.686G>T (p.Gly229Val) n.1353G>T c.572G>T (p.Gly191Val) c.557G>T (p.Gly186Val) | COSMIC |
| X | g.139551228T>A | CA518862154 | F9 | c.687T>A (p.Gly229=) n.1354T>A c.573T>A (p.Gly191=) c.558T>A (p.Gly186=) | |
| X | g.139551228T>C | CA518862155 | F9 | c.687T>C (p.Gly229=) n.1354T>C c.573T>C (p.Gly191=) c.558T>C (p.Gly186=) | |
| X | g.139551228T>G | CA518862157 | F9 | c.687T>G (p.Gly229=) n.1354T>G c.573T>G (p.Gly191=) c.558T>G (p.Gly186=) | |
| X | g.139551228_139551231delinsTGGA | CA2461408640 | F9 | c.687_690delinsTGGA (p.Gly229=) n.1354_1357delinsTGGA c.573_576delinsTGGA (p.Gly191=) c.558_561delinsTGGA (p.Gly186=) |