| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154997084_154997088dup | CA2695238490 | F8 | c.273_277dup (p.Pro93GlnfsTer?) c.*59_*63dup (n.*59_*63dup) c.168_172dup (p.Pro58GlnfsTer?) c.255_259dup (p.Pro87GlnfsTer?) | |
| X | g.154997086C>A | CA255053 | F8 | c.275G>T (p.Gly92Val) c.*61G>T (n.*61G>T) c.170G>T (p.Gly57Val) c.257G>T (p.Gly86Val) | ClinVar dbSNP |
| X | g.154997086C= | CA2466857803 | F8 | c.275G= (p.Gly92=) c.*61G= (n.*61G=) c.170G= (p.Gly57=) c.257G= (p.Gly86=) | |
| X | g.154997086C>G | CA414920111 | F8 | c.275G>C (p.Gly92Ala) c.*61G>C (n.*61G>C) c.170G>C (p.Gly57Ala) c.257G>C (p.Gly86Ala) | dbSNP |
| X | g.154997086C>T | CA414920112 | F8 | c.275G>A (p.Gly92Asp) c.*61G>A (n.*61G>A) c.170G>A (p.Gly57Asp) c.257G>A (p.Gly86Asp) | |
| X | g.154997087C>A | CA414920113 | F8 | c.274G>T (p.Gly92Cys) c.*60G>T (n.*60G>T) c.169G>T (p.Gly57Cys) c.256G>T (p.Gly86Cys) | |
| X | g.154997087C= | CA2466857804 | F8 | c.274G= (p.Gly92=) c.*60G= (n.*60G=) c.169G= (p.Gly57=) c.256G= (p.Gly86=) | |
| X | g.154997087C>G | CA414920114 | F8 | c.274G>C (p.Gly92Arg) c.*60G>C (n.*60G>C) c.169G>C (p.Gly57Arg) c.256G>C (p.Gly86Arg) | |
| X | g.154997087C>T | CA414920115 | F8 | c.274G>A (p.Gly92Ser) c.*60G>A (n.*60G>A) c.169G>A (p.Gly57Ser) c.256G>A (p.Gly86Ser) | ClinVar dbSNP |
| X | g.154997088T>A | CA519384171 | F8 | c.273A>T (p.Leu91=) c.*59A>T (n.*59A>T) c.168A>T (p.Leu56=) c.255A>T (p.Leu85=) | |
| X | g.154997088T>C | CA519384172 | F8 | c.273A>G (p.Leu91=) c.*59A>G (n.*59A>G) c.168A>G (p.Leu56=) c.255A>G (p.Leu85=) | |
| X | g.154997088T>G | CA519384173 | F8 | c.273A>C (p.Leu91=) c.*59A>C (n.*59A>C) c.168A>C (p.Leu56=) c.255A>C (p.Leu85=) | |
| X | g.154997089A>C | CA414920116 | F8 | c.272T>G (p.Leu91Arg) c.*58T>G (n.*58T>G) c.167T>G (p.Leu56Arg) c.254T>G (p.Leu85Arg) | |
| X | g.154997089A>G | CA414920117 | F8 | c.272T>C (p.Leu91Pro) c.*58T>C (n.*58T>C) c.167T>C (p.Leu56Pro) c.254T>C (p.Leu85Pro) | |
| X | g.154997089A>T | CA414920118 | F8 | c.272T>A (p.Leu91Gln) c.*58T>A (n.*58T>A) c.167T>A (p.Leu56Gln) c.254T>A (p.Leu85Gln) | |
| X | g.154997090G>A | CA519384174 | F8 | c.271C>T (p.Leu91=) c.*57C>T (n.*57C>T) c.166C>T (p.Leu56=) c.253C>T (p.Leu85=) | |
| X | g.154997090G>C | CA414920119 | F8 | c.271C>G (p.Leu91Val) c.*57C>G (n.*57C>G) c.166C>G (p.Leu56Val) c.253C>G (p.Leu85Val) | |
| X | g.154997090G>T | CA414920120 | F8 | c.271C>A (p.Leu91Ile) c.*57C>A (n.*57C>A) c.166C>A (p.Leu56Ile) c.253C>A (p.Leu85Ile) | |
| X | g.154997090_154997091delinsGC | CA2466857805 | F8 | c.270_271delinsGC (p.Leu90=) c.*56_*57delinsGC (n.*56_*57delinsGC) c.165_166delinsGC (p.Leu55=) c.252_253delinsGC (p.Leu84=) | |
| X | g.154997091del | CA645509239 | F8 | c.270del (p.Leu91Ter) c.*56del (n.*56del) c.165del (p.Leu56Ter) c.252del (p.Leu85Ter) | ClinVar dbSNP |
| X | g.154997091C>A | CA519384176 | F8 | c.270G>T (p.Leu90=) c.*56G>T (n.*56G>T) c.165G>T (p.Leu55=) c.252G>T (p.Leu84=) | |
| X | g.154997091C>G | CA519384177 | F8 | c.270G>C (p.Leu90=) c.*56G>C (n.*56G>C) c.165G>C (p.Leu55=) c.252G>C (p.Leu84=) | |
| X | g.154997091C>T | CA519384175 | F8 | c.270G>A (p.Leu90=) c.*56G>A (n.*56G>A) c.165G>A (p.Leu55=) c.252G>A (p.Leu84=) | |
| X | g.154997092A= | CA2466857806 | F8 | c.269T= (p.Leu90=) c.*55T= (n.*55T=) c.164T= (p.Leu55=) c.251T= (p.Leu84=) | |
| X | g.154997092A>C | CA414920121 | F8 | c.269T>G (p.Leu90Arg) c.*55T>G (n.*55T>G) c.164T>G (p.Leu55Arg) c.251T>G (p.Leu84Arg) | dbSNP |
| X | g.154997092A>G | CA414920122 | F8 | c.269T>C (p.Leu90Pro) c.*55T>C (n.*55T>C) c.164T>C (p.Leu55Pro) c.251T>C (p.Leu84Pro) | |
| X | g.154997092A>T | CA414920123 | F8 | c.269T>A (p.Leu90Gln) c.*55T>A (n.*55T>A) c.164T>A (p.Leu55Gln) c.251T>A (p.Leu84Gln) | |
| X | g.154997093G>A | CA519384178 | F8 | c.268C>T (p.Leu90=) c.*54C>T (n.*54C>T) c.163C>T (p.Leu55=) c.250C>T (p.Leu84=) | |
| X | g.154997093G>C | CA414920124 | F8 | c.268C>G (p.Leu90Val) c.*54C>G (n.*54C>G) c.163C>G (p.Leu55Val) c.250C>G (p.Leu84Val) | |
| X | g.154997093G>T | CA414920125 | F8 | c.268C>A (p.Leu90Met) c.*54C>A (n.*54C>A) c.163C>A (p.Leu55Met) c.250C>A (p.Leu84Met) | COSMIC COSMIC |
| X | g.154997094A= | CA2466857807 | F8 | c.267T= (p.Gly89=) c.*53T= (n.*53T=) c.162T= (p.Gly54=) c.249T= (p.Gly83=) | |
| X | g.154997094A>C | CA519384180 | F8 | c.267T>G (p.Gly89=) c.*53T>G (n.*53T>G) c.162T>G (p.Gly54=) c.249T>G (p.Gly83=) | |
| X | g.154997094A>G | CA10568604 | F8 | c.267T>C (p.Gly89=) c.*53T>C (n.*53T>C) c.162T>C (p.Gly54=) c.249T>C (p.Gly83=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154997094A>T | CA519384179 | F8 | c.267T>A (p.Gly89=) c.*53T>A (n.*53T>A) c.162T>A (p.Gly54=) c.249T>A (p.Gly83=) | |
| X | g.154997095C>A | CA414920126 | F8 | c.266G>T (p.Gly89Val) c.*52G>T (n.*52G>T) c.161G>T (p.Gly54Val) c.248G>T (p.Gly83Val) | dbSNP |
| X | g.154997095C= | CA2466857808 | F8 | c.266G= (p.Gly89=) c.*52G= (n.*52G=) c.161G= (p.Gly54=) c.248G= (p.Gly83=) | |
| X | g.154997095C>G | CA414920127 | F8 | c.266G>C (p.Gly89Ala) c.*52G>C (n.*52G>C) c.161G>C (p.Gly54Ala) c.248G>C (p.Gly83Ala) | |
| X | g.154997095C>T | CA255052 | F8 | c.266G>A (p.Gly89Asp) c.*52G>A (n.*52G>A) c.161G>A (p.Gly54Asp) c.248G>A (p.Gly83Asp) | ClinVar dbSNP |
| X | g.154997096C>A | CA414920128 | F8 | c.266-1G>T (n.266-1G>T) c.*52-1G>T (n.*52-1G>T) c.161-1G>T (n.161-1G>T) c.248-1G>T (n.248-1G>T) | |
| X | g.154997096C= | CA2466857809 | F8 | c.266-1G= (n.266-1G=) c.*52-1G= (n.*52-1G=) c.161-1G= (n.161-1G=) c.248-1G= (n.248-1G=) | |
| X | g.154997096C>G | CA414920129 | F8 | c.266-1G>C (n.266-1G>C) c.*52-1G>C (n.*52-1G>C) c.161-1G>C (n.161-1G>C) c.248-1G>C (n.248-1G>C) | |
| X | g.154997096C>T | CA414920130 | F8 | c.266-1G>A (n.266-1G>A) c.*52-1G>A (n.*52-1G>A) c.161-1G>A (n.161-1G>A) c.248-1G>A (n.248-1G>A) | dbSNP |
| X | g.154997097T>A | CA414920133 | F8 | c.266-2A>T (n.266-2A>T) c.*52-2A>T (n.*52-2A>T) c.161-2A>T (n.161-2A>T) c.248-2A>T (n.248-2A>T) | |
| X | g.154997097T>C | CA414920132 | F8 | c.266-2A>G (n.266-2A>G) c.*52-2A>G (n.*52-2A>G) c.161-2A>G (n.161-2A>G) c.248-2A>G (n.248-2A>G) | |
| X | g.154997097T>G | CA414920131 | F8 | c.266-2A>C (n.266-2A>C) c.*52-2A>C (n.*52-2A>C) c.161-2A>C (n.161-2A>C) c.248-2A>C (n.248-2A>C) | |
| X | g.154997098del | CA1139771750 | F8 | c.266-3del (n.266-3del) c.*52-3del (n.*52-3del) c.161-3del (n.161-3del) c.248-3del (n.248-3del) | |
| X | g.154997099del | CA2579744905 | F8 | c.266-4del (n.266-4del) c.*52-4del (n.*52-4del) c.161-4del (n.161-4del) c.248-4del (n.248-4del) | |
| X | g.154997103A>G | CA2695170243 | F8 | c.266-8T>C (n.266-8T>C) c.*52-8T>C (n.*52-8T>C) c.161-8T>C (n.161-8T>C) c.248-8T>C (n.248-8T>C) | gnomAD v4 |
| X | g.154997104A= | CA2466857810 | F8 | c.266-9T= (n.266-9T=) c.*52-9T= (n.*52-9T=) c.161-9T= (n.161-9T=) c.248-9T= (n.248-9T=) | |
| X | g.154997104A>G | CA2466857811 | F8 | c.266-9T>C (n.266-9T>C) c.*52-9T>C (n.*52-9T>C) c.161-9T>C (n.161-9T>C) c.248-9T>C (n.248-9T>C) | dbSNP |