Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154969479del | CA2695237470 | F8 | c.862del (p.Ile288TyrfsTer10) c.*738del (n.*738del) c.757del (p.Ile253TyrfsTer10) | |
X | g.154969479T>A | CA519367547 | F8 | c.861A>T (p.Ser287=) c.*737A>T (n.*737A>T) c.756A>T (p.Ser252=) | |
X | g.154969479T>C | CA519367549 | F8 | c.861A>G (p.Ser287=) c.*737A>G (n.*737A>G) c.756A>G (p.Ser252=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154969479T>G | CA519367551 | F8 | c.861A>C (p.Ser287=) c.*737A>C (n.*737A>C) c.756A>C (p.Ser252=) | |
X | g.154969479T= | CA2466849033 | F8 | c.861A= (p.Ser287=) c.*737A= (n.*737A=) c.756A= (p.Ser252=) | |
X | g.154969480G>A | CA414918174 | F8 | c.860C>T (p.Ser287Leu) c.*736C>T (n.*736C>T) c.755C>T (p.Ser252Leu) | |
X | g.154969480G>C | CA414918176 | F8 | c.860C>G (p.Ser287Ter) c.*736C>G (n.*736C>G) c.755C>G (p.Ser252Ter) | dbSNP |
X | g.154969480G= | CA2466849034 | F8 | c.860C= (p.Ser287=) c.*736C= (n.*736C=) c.755C= (p.Ser252=) | |
X | g.154969480G>T | CA414918178 | F8 | c.860C>A (p.Ser287Ter) c.*736C>A (n.*736C>A) c.755C>A (p.Ser252Ter) | dbSNP |
X | g.154969481A>C | CA414918180 | F8 | c.859T>G (p.Ser287Ala) c.*735T>G (n.*735T>G) c.754T>G (p.Ser252Ala) | |
X | g.154969481A>G | CA414918182 | F8 | c.859T>C (p.Ser287Pro) c.*735T>C (n.*735T>C) c.754T>C (p.Ser252Pro) | |
X | g.154969481A>T | CA414918184 | F8 | c.859T>A (p.Ser287Thr) c.*735T>A (n.*735T>A) c.754T>A (p.Ser252Thr) | |
X | g.154969482G>A | CA519367560 | F8 | c.858C>T (p.His286=) c.*734C>T (n.*734C>T) c.753C>T (p.His251=) | gnomAD v4 |
X | g.154969482G>C | CA414918187 | F8 | c.858C>G (p.His286Gln) c.*734C>G (n.*734C>G) c.753C>G (p.His251Gln) | dbSNP |
X | g.154969482G= | CA2466849035 | F8 | c.858C= (p.His286=) c.*734C= (n.*734C=) c.753C= (p.His251=) | |
X | g.154969482G>T | CA414918185 | F8 | c.858C>A (p.His286Gln) c.*734C>A (n.*734C>A) c.753C>A (p.His251Gln) | |
X | g.154969483T>A | CA414918189 | F8 | c.857A>T (p.His286Leu) c.*733A>T (n.*733A>T) c.752A>T (p.His251Leu) | |
X | g.154969483T>C | CA414918191 | F8 | c.857A>G (p.His286Arg) c.*733A>G (n.*733A>G) c.752A>G (p.His251Arg) | dbSNP |
X | g.154969483T>G | CA414918192 | F8 | c.857A>C (p.His286Pro) c.*733A>C (n.*733A>C) c.752A>C (p.His251Pro) | |
X | g.154969483T= | CA2466849036 | F8 | c.857A= (p.His286=) c.*733A= (n.*733A=) c.752A= (p.His251=) | |
X | g.154969483dup | CA2695237471 | F8 | c.857dup (p.His286GlnfsTer?) c.*733dup (n.*733dup) c.752dup (p.His251GlnfsTer?) | |
X | g.154969484G>A | CA414918193 | F8 | c.856C>T (p.His286Tyr) c.*732C>T (n.*732C>T) c.751C>T (p.His251Tyr) | dbSNP |
X | g.154969484G>C | CA414918194 | F8 | c.856C>G (p.His286Asp) c.*732C>G (n.*732C>G) c.751C>G (p.His251Asp) | |
X | g.154969484G= | CA2466849037 | F8 | c.856C= (p.His286=) c.*732C= (n.*732C=) c.751C= (p.His251=) | |
X | g.154969484G>T | CA414918196 | F8 | c.856C>A (p.His286Asn) c.*732C>A (n.*732C>A) c.751C>A (p.His251Asn) | |
X | g.154969485C>A | CA519367569 | F8 | c.855G>T (p.Val285=) c.*731G>T (n.*731G>T) c.750G>T (p.Val250=) | |
X | g.154969485C= | CA2466849038 | F8 | c.855G= (p.Val285=) c.*731G= (n.*731G=) c.750G= (p.Val250=) | |
X | g.154969485C>G | CA519367571 | F8 | c.855G>C (p.Val285=) c.*731G>C (n.*731G>C) c.750G>C (p.Val250=) | |
X | g.154969485C>T | CA519367572 | F8 | c.855G>A (p.Val285=) c.*731G>A (n.*731G>A) c.750G>A (p.Val250=) | dbSNP COSMIC COSMIC |
X | g.154969485dup | CA2695237474 | F8 | c.855dup (p.His286AlafsTer?) c.*731dup (n.*731dup) c.750dup (p.His251AlafsTer?) | |
X | g.154969486A= | CA2466849039 | F8 | c.854T= (p.Val285=) c.*730T= (n.*730T=) c.749T= (p.Val250=) | |
X | g.154969486A>C | CA255076 | F8 | c.854T>G (p.Val285Gly) c.*730T>G (n.*730T>G) c.749T>G (p.Val250Gly) | ClinVar dbSNP |
X | g.154969486A>G | CA414918199 | F8 | c.854T>C (p.Val285Ala) c.*730T>C (n.*730T>C) c.749T>C (p.Val250Ala) | |
X | g.154969486A>T | CA414918201 | F8 | c.854T>A (p.Val285Glu) c.*730T>A (n.*730T>A) c.749T>A (p.Val250Glu) | |
X | g.154969487C>A | CA414918203 | F8 | c.853G>T (p.Val285Leu) c.*729G>T (n.*729G>T) c.748G>T (p.Val250Leu) | |
X | g.154969487C= | CA2466849040 | F8 | c.853G= (p.Val285=) c.*729G= (n.*729G=) c.748G= (p.Val250=) | |
X | g.154969487C>G | CA414918205 | F8 | c.853G>C (p.Val285Leu) c.*729G>C (n.*729G>C) c.748G>C (p.Val250Leu) | |
X | g.154969487C>T | CA414918207 | F8 | c.853G>A (p.Val285Met) c.*729G>A (n.*729G>A) c.748G>A (p.Val250Met) | ClinVar dbSNP |
X | g.154969488T>A | CA414918209 | F8 | c.852A>T (p.Glu284Asp) c.*728A>T (n.*728A>T) c.747A>T (p.Glu249Asp) | |
X | g.154969488T>C | CA519367580 | F8 | c.852A>G (p.Glu284=) c.*728A>G (n.*728A>G) c.747A>G (p.Glu249=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154969488T>G | CA414918210 | F8 | c.852A>C (p.Glu284Asp) c.*728A>C (n.*728A>C) c.747A>C (p.Glu249Asp) | gnomAD v4 |
X | g.154969488T= | CA2466849041 | F8 | c.852A= (p.Glu284=) c.*728A= (n.*728A=) c.747A= (p.Glu249=) | |
X | g.154969489T>A | CA414918212 | F8 | c.851A>T (p.Glu284Val) c.*727A>T (n.*727A>T) c.746A>T (p.Glu249Val) | |
X | g.154969489T>C | CA414918213 | F8 | c.851A>G (p.Glu284Gly) c.*727A>G (n.*727A>G) c.746A>G (p.Glu249Gly) | gnomAD v4 |
X | g.154969489T>G | CA414918215 | F8 | c.851A>C (p.Glu284Ala) c.*727A>C (n.*727A>C) c.746A>C (p.Glu249Ala) | |
X | g.154969490C>A | CA414918220 | F8 | c.850G>T (p.Glu284Ter) c.*726G>T (n.*726G>T) c.745G>T (p.Glu249Ter) | |
X | g.154969490C>G | CA414918221 | F8 | c.850G>C (p.Glu284Gln) c.*726G>C (n.*726G>C) c.745G>C (p.Glu249Gln) | |
X | g.154969490C>T | CA414918223 | F8 | c.850G>A (p.Glu284Lys) c.*726G>A (n.*726G>A) c.745G>A (p.Glu249Lys) | |
X | g.154969490_154969491delinsCA | CA2466849042 | F8 | c.849_850delinsTG (p.Pro283=) c.*725_*726delinsTG (n.*725_*726delinsTG) c.744_745delinsTG (p.Pro248=) | |
X | g.154969491del | CA255075 | F8 | c.849del (p.Glu284LysfsTer14) c.*725del (n.*725del) c.744del (p.Glu249LysfsTer14) | ClinVar dbSNP |