| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154863103A= | CA2466815585 | F8 | c.6554T= (p.Leu2185=) c.287T= (p.Leu96=) c.149T= (p.Leu50=) c.6449T= (p.Leu2150=) | |
| X | g.154863103A>C | CA414906990 | F8 | c.6554T>G (p.Leu2185Trp) c.287T>G (p.Leu96Trp) c.149T>G (p.Leu50Trp) c.6449T>G (p.Leu2150Trp) | |
| X | g.154863103A>G | CA255028 | F8 | c.6554T>C (p.Leu2185Ser) c.287T>C (p.Leu96Ser) c.149T>C (p.Leu50Ser) c.6449T>C (p.Leu2150Ser) | ClinVar dbSNP |
| X | g.154863103A>T | CA414907001 | F8 | c.6554T>A (p.Leu2185Ter) c.287T>A (p.Leu96Ter) c.149T>A (p.Leu50Ter) c.6449T>A (p.Leu2150Ter) | |
| X | g.154863104A>C | CA414907005 | F8 | c.6553T>G (p.Leu2185Val) c.286T>G (p.Leu96Val) c.148T>G (p.Leu50Val) c.6448T>G (p.Leu2150Val) | |
| X | g.154863104A>G | CA519357816 | F8 | c.6553T>C (p.Leu2185=) c.286T>C (p.Leu96=) c.148T>C (p.Leu50=) c.6448T>C (p.Leu2150=) | |
| X | g.154863104A>T | CA414907015 | F8 | c.6553T>A (p.Leu2185Met) c.286T>A (p.Leu96Met) c.148T>A (p.Leu50Met) c.6448T>A (p.Leu2150Met) | |
| X | g.154863105C>A | CA414907022 | F8 | c.6552G>T (p.Glu2184Asp) c.285G>T (p.Glu95Asp) c.147G>T (p.Glu49Asp) c.6447G>T (p.Glu2149Asp) | |
| X | g.154863105C>G | CA414907018 | F8 | c.6552G>C (p.Glu2184Asp) c.285G>C (p.Glu95Asp) c.147G>C (p.Glu49Asp) c.6447G>C (p.Glu2149Asp) | |
| X | g.154863105C>T | CA519357819 | F8 | c.6552G>A (p.Glu2184=) c.285G>A (p.Glu95=) c.147G>A (p.Glu49=) c.6447G>A (p.Glu2149=) | |
| X | g.154863106T>A | CA414907023 | F8 | c.6551A>T (p.Glu2184Val) c.284A>T (p.Glu95Val) c.146A>T (p.Glu49Val) c.6446A>T (p.Glu2149Val) | |
| X | g.154863106T>C | CA414907024 | F8 | c.6551A>G (p.Glu2184Gly) c.284A>G (p.Glu95Gly) c.146A>G (p.Glu49Gly) c.6446A>G (p.Glu2149Gly) | ClinVar dbSNP |
| X | g.154863106T>G | CA414907026 | F8 | c.6551A>C (p.Glu2184Ala) c.284A>C (p.Glu95Ala) c.146A>C (p.Glu49Ala) c.6446A>C (p.Glu2149Ala) | dbSNP |
| X | g.154863106T= | CA2466815589 | F8 | c.6551A= (p.Glu2184=) c.284A= (p.Glu95=) c.146A= (p.Glu49=) c.6446A= (p.Glu2149=) | |
| X | g.154863107C>A | CA414907031 | F8 | c.6550G>T (p.Glu2184Ter) c.283G>T (p.Glu95Ter) c.145G>T (p.Glu49Ter) c.6445G>T (p.Glu2149Ter) | |
| X | g.154863107C>G | CA414907033 | F8 | c.6550G>C (p.Glu2184Gln) c.283G>C (p.Glu95Gln) c.145G>C (p.Glu49Gln) c.6445G>C (p.Glu2149Gln) | ClinVar dbSNP |
| X | g.154863107C>T | CA414907036 | F8 | c.6550G>A (p.Glu2184Lys) c.283G>A (p.Glu95Lys) c.145G>A (p.Glu49Lys) c.6445G>A (p.Glu2149Lys) | |
| X | g.154863108del | CA2695237165 | F8 | c.6550del (p.Glu2184SerfsTer2) c.283del (p.Glu95SerfsTer2) c.145del (p.Glu49SerfsTer2) c.6445del (p.Glu2149SerfsTer2) | |
| X | g.154863108C>A | CA414907040 | F8 | c.6549G>T (p.Met2183Ile) c.282G>T (p.Met94Ile) c.144G>T (p.Met48Ile) c.6444G>T (p.Met2148Ile) | |
| X | g.154863108C>G | CA414907044 | F8 | c.6549G>C (p.Met2183Ile) c.282G>C (p.Met94Ile) c.144G>C (p.Met48Ile) c.6444G>C (p.Met2148Ile) | |
| X | g.154863108C>T | CA414907048 | F8 | c.6549G>A (p.Met2183Ile) c.282G>A (p.Met94Ile) c.144G>A (p.Met48Ile) c.6444G>A (p.Met2148Ile) | |
| X | g.154863109A= | CA2466815591 | F8 | c.6548T= (p.Met2183=) c.281T= (p.Met94=) c.143T= (p.Met48=) c.6443T= (p.Met2148=) | |
| X | g.154863109A>C | CA414907052 | F8 | c.6548T>G (p.Met2183Arg) c.281T>G (p.Met94Arg) c.143T>G (p.Met48Arg) c.6443T>G (p.Met2148Arg) | dbSNP |
| X | g.154863109A>G | CA414907055 | F8 | c.6548T>C (p.Met2183Thr) c.281T>C (p.Met94Thr) c.143T>C (p.Met48Thr) c.6443T>C (p.Met2148Thr) | |
| X | g.154863109A>T | CA414907059 | F8 | c.6548T>A (p.Met2183Lys) c.281T>A (p.Met94Lys) c.143T>A (p.Met48Lys) c.6443T>A (p.Met2148Lys) | |
| X | g.154863110T>A | CA10567798 | F8 | c.6547A>T (p.Met2183Leu) c.280A>T (p.Met94Leu) c.142A>T (p.Met48Leu) c.6442A>T (p.Met2148Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863110T>C | CA414907064 | F8 | c.6547A>G (p.Met2183Val) c.280A>G (p.Met94Val) c.142A>G (p.Met48Val) c.6442A>G (p.Met2148Val) | ClinVar dbSNP gnomAD v4 |
| X | g.154863110T>G | CA414907060 | F8 | c.6547A>C (p.Met2183Leu) c.280A>C (p.Met94Leu) c.142A>C (p.Met48Leu) c.6442A>C (p.Met2148Leu) | |
| X | g.154863110T= | CA2466815594 | F8 | c.6547A= (p.Met2183=) c.280A= (p.Met94=) c.142A= (p.Met48=) c.6442A= (p.Met2148=) | |
| X | g.154863111G>A | CA519357828 | F8 | c.6546C>T (p.Arg2182=) c.279C>T (p.Arg93=) c.141C>T (p.Arg47=) c.6441C>T (p.Arg2147=) | |
| X | g.154863111G>C | CA519357830 | F8 | c.6546C>G (p.Arg2182=) c.279C>G (p.Arg93=) c.141C>G (p.Arg47=) c.6441C>G (p.Arg2147=) | |
| X | g.154863111G= | CA2466815596 | F8 | c.6546C= (p.Arg2182=) c.279C= (p.Arg93=) c.141C= (p.Arg47=) c.6441C= (p.Arg2147=) | |
| X | g.154863111G>T | CA10567799 | F8 | c.6546C>A (p.Arg2182=) c.279C>A (p.Arg93=) c.141C>A (p.Arg47=) c.6441C>A (p.Arg2147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863112_154863113del | CA2579752263 | F8 | c.6545_6546del (p.Arg2182HisfsTer7) c.278_279del (p.Arg93HisfsTer7) c.140_141del (p.Arg47HisfsTer7) c.6440_6441del (p.Arg2147HisfsTer7) | |
| X | g.154863112C>A | CA414907082 | F8 | c.6545G>T (p.Arg2182Leu) c.278G>T (p.Arg93Leu) c.140G>T (p.Arg47Leu) c.6440G>T (p.Arg2147Leu) | dbSNP |
| X | g.154863112C= | CA2466815599 | F8 | c.6545G= (p.Arg2182=) c.278G= (p.Arg93=) c.140G= (p.Arg47=) c.6440G= (p.Arg2147=) | |
| X | g.154863112C>G | CA414907083 | F8 | c.6545G>C (p.Arg2182Pro) c.278G>C (p.Arg93Pro) c.140G>C (p.Arg47Pro) c.6440G>C (p.Arg2147Pro) | |
| X | g.154863112C>T | CA255213 | F8 | c.6545G>A (p.Arg2182His) c.278G>A (p.Arg93His) c.140G>A (p.Arg47His) c.6440G>A (p.Arg2147His) | ClinVar dbSNP COSMIC COSMIC |
| X | g.154863113G>A | CA255214 | F8 | c.6544C>T (p.Arg2182Cys) c.277C>T (p.Arg93Cys) c.139C>T (p.Arg47Cys) c.6439C>T (p.Arg2147Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154863113G>C | CA414907093 | F8 | c.6544C>G (p.Arg2182Gly) c.277C>G (p.Arg93Gly) c.139C>G (p.Arg47Gly) c.6439C>G (p.Arg2147Gly) | |
| X | g.154863113G= | CA2466815607 | F8 | c.6544C= (p.Arg2182=) c.277C= (p.Arg93=) c.139C= (p.Arg47=) c.6439C= (p.Arg2147=) | |
| X | g.154863113G>T | CA414907096 | F8 | c.6544C>A (p.Arg2182Ser) c.277C>A (p.Arg93Ser) c.139C>A (p.Arg47Ser) c.6439C>A (p.Arg2147Ser) | |
| X | g.154863114A>C | CA519357836 | F8 | c.6543T>G (p.Leu2181=) c.276T>G (p.Leu92=) c.138T>G (p.Leu46=) c.6438T>G (p.Leu2146=) | |
| X | g.154863114A>G | CA519357834 | F8 | c.6543T>C (p.Leu2181=) c.276T>C (p.Leu92=) c.138T>C (p.Leu46=) c.6438T>C (p.Leu2146=) | |
| X | g.154863114A>T | CA519357835 | F8 | c.6543T>A (p.Leu2181=) c.276T>A (p.Leu92=) c.138T>A (p.Leu46=) c.6438T>A (p.Leu2146=) | |
| X | g.154863115A= | CA2466815612 | F8 | c.6542T= (p.Leu2181=) c.275T= (p.Leu92=) c.137T= (p.Leu46=) c.6437T= (p.Leu2146=) | |
| X | g.154863115A>C | CA414907097 | F8 | c.6542T>G (p.Leu2181Arg) c.275T>G (p.Leu92Arg) c.137T>G (p.Leu46Arg) c.6437T>G (p.Leu2146Arg) | |
| X | g.154863115A>G | CA414907098 | F8 | c.6542T>C (p.Leu2181Pro) c.275T>C (p.Leu92Pro) c.137T>C (p.Leu46Pro) c.6437T>C (p.Leu2146Pro) | dbSNP |
| X | g.154863115A>T | CA414907101 | F8 | c.6542T>A (p.Leu2181His) c.275T>A (p.Leu92His) c.137T>A (p.Leu46His) c.6437T>A (p.Leu2146His) | |
| X | g.154863116G>A | CA414907104 | F8 | c.6541C>T (p.Leu2181Phe) c.274C>T (p.Leu92Phe) c.136C>T (p.Leu46Phe) c.6436C>T (p.Leu2146Phe) | dbSNP |