Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154945136_154948644dup | CA2580612538 | F8 | c.1904-736_2113+2563dup c.*1779+5249_*1779+8757dup (n.*1779+5249_*1779+8757dup) c.1799-736_2008+2563dup | ClinVar |
X | g.154947725_154947746del | CA2695237201 | F8 | c.2067_2088del (p.Phe690SerfsTer25) c.*1779+6148_*1779+6169del (n.*1779+6148_*1779+6169del) c.1962_1983del (p.Phe655SerfsTer25) | |
X | g.154947727T>A | CA414909035 | F8 | c.2084A>T (p.Glu695Val) c.*1779+6165A>T (n.*1779+6165A>T) c.1979A>T (p.Glu660Val) | |
X | g.154947727T>C | CA414909038 | F8 | c.2084A>G (p.Glu695Gly) c.*1779+6165A>G (n.*1779+6165A>G) c.1979A>G (p.Glu660Gly) | |
X | g.154947727T>G | CA414909040 | F8 | c.2084A>C (p.Glu695Ala) c.*1779+6165A>C (n.*1779+6165A>C) c.1979A>C (p.Glu660Ala) | |
X | g.154947727_154947728delinsA | CA2695237202 | F8 | c.2083_2084delinsT (p.Glu695Ter) c.*1779+6164_*1779+6165delinsT (n.*1779+6164_*1779+6165delinsT) c.1978_1979delinsT (p.Glu660Ter) | |
X | g.154947728C>A | CA414909050 | F8 | c.2083G>T (p.Glu695Ter) c.*1779+6164G>T (n.*1779+6164G>T) c.1978G>T (p.Glu660Ter) | |
X | g.154947728C>G | CA414909053 | F8 | c.2083G>C (p.Glu695Gln) c.*1779+6164G>C (n.*1779+6164G>C) c.1978G>C (p.Glu660Gln) | |
X | g.154947728C>T | CA414909057 | F8 | c.2083G>A (p.Glu695Lys) c.*1779+6164G>A (n.*1779+6164G>A) c.1978G>A (p.Glu660Lys) | |
X | g.154947729T>A | CA519356353 | F8 | c.2082A>T (p.Gly694=) c.*1779+6163A>T (n.*1779+6163A>T) c.1977A>T (p.Gly659=) | |
X | g.154947729T>C | CA519356350 | F8 | c.2082A>G (p.Gly694=) c.*1779+6163A>G (n.*1779+6163A>G) c.1977A>G (p.Gly659=) | |
X | g.154947729T>G | CA519356352 | F8 | c.2082A>C (p.Gly694=) c.*1779+6163A>C (n.*1779+6163A>C) c.1977A>C (p.Gly659=) | |
X | g.154947730C>A | CA414909060 | F8 | c.2081G>T (p.Gly694Val) c.*1779+6162G>T (n.*1779+6162G>T) c.1976G>T (p.Gly659Val) | |
X | g.154947730C>G | CA414909065 | F8 | c.2081G>C (p.Gly694Ala) c.*1779+6162G>C (n.*1779+6162G>C) c.1976G>C (p.Gly659Ala) | |
X | g.154947730C>T | CA414909062 | F8 | c.2081G>A (p.Gly694Glu) c.*1779+6162G>A (n.*1779+6162G>A) c.1976G>A (p.Gly659Glu) | COSMIC COSMIC |
X | g.154947731C>A | CA414909068 | F8 | c.2080G>T (p.Gly694Ter) c.*1779+6161G>T (n.*1779+6161G>T) c.1975G>T (p.Gly659Ter) | |
X | g.154947731C>G | CA414909070 | F8 | c.2080G>C (p.Gly694Arg) c.*1779+6161G>C (n.*1779+6161G>C) c.1975G>C (p.Gly659Arg) | |
X | g.154947731C>T | CA414909073 | F8 | c.2080G>A (p.Gly694Arg) c.*1779+6161G>A (n.*1779+6161G>A) c.1975G>A (p.Gly659Arg) | |
X | g.154947732del | CA2579744645 | F8 | c.2079del (p.Gly694GlufsTer28) c.*1779+6160del (n.*1779+6160del) c.1974del (p.Gly659GlufsTer28) | |
X | g.154947732T>A | CA519356361 | F8 | c.2079A>T (p.Ser693=) c.*1779+6160A>T (n.*1779+6160A>T) c.1974A>T (p.Ser658=) | |
X | g.154947732T>C | CA519356362 | F8 | c.2079A>G (p.Ser693=) c.*1779+6160A>G (n.*1779+6160A>G) c.1974A>G (p.Ser658=) | |
X | g.154947732T>G | CA519356364 | F8 | c.2079A>C (p.Ser693=) c.*1779+6160A>C (n.*1779+6160A>C) c.1974A>C (p.Ser658=) | gnomAD v4 |
X | g.154947733G>A | CA414909075 | F8 | c.2078C>T (p.Ser693Leu) c.*1779+6159C>T (n.*1779+6159C>T) c.1973C>T (p.Ser658Leu) | |
X | g.154947733G>C | CA414909078 | F8 | c.2078C>G (p.Ser693Ter) c.*1779+6159C>G (n.*1779+6159C>G) c.1973C>G (p.Ser658Ter) | |
X | g.154947733G>T | CA414909079 | F8 | c.2078C>A (p.Ser693Ter) c.*1779+6159C>A (n.*1779+6159C>A) c.1973C>A (p.Ser658Ter) | |
X | g.154947734A>C | CA414909082 | F8 | c.2077T>G (p.Ser693Ala) c.*1779+6158T>G (n.*1779+6158T>G) c.1972T>G (p.Ser658Ala) | |
X | g.154947734A>G | CA414909084 | F8 | c.2077T>C (p.Ser693Pro) c.*1779+6158T>C (n.*1779+6158T>C) c.1972T>C (p.Ser658Pro) | |
X | g.154947734A>T | CA414909085 | F8 | c.2077T>A (p.Ser693Thr) c.*1779+6158T>A (n.*1779+6158T>A) c.1972T>A (p.Ser658Thr) | |
X | g.154947735G>A | CA519356371 | F8 | c.2076C>T (p.Phe692=) c.*1779+6157C>T (n.*1779+6157C>T) c.1971C>T (p.Phe657=) | gnomAD v4 |
X | g.154947735G>C | CA414909086 | F8 | c.2076C>G (p.Phe692Leu) c.*1779+6157C>G (n.*1779+6157C>G) c.1971C>G (p.Phe657Leu) | |
X | g.154947735G>T | CA414909087 | F8 | c.2076C>A (p.Phe692Leu) c.*1779+6157C>A (n.*1779+6157C>A) c.1971C>A (p.Phe657Leu) | |
X | g.154947736A= | CA2466842523 | F8 | c.2075T= (p.Phe692=) c.*1779+6156T= (n.*1779+6156T=) c.1970T= (p.Phe657=) | |
X | g.154947736A>C | CA414909089 | F8 | c.2075T>G (p.Phe692Cys) c.*1779+6156T>G (n.*1779+6156T>G) c.1970T>G (p.Phe657Cys) | |
X | g.154947736A>G | CA414909091 | F8 | c.2075T>C (p.Phe692Ser) c.*1779+6156T>C (n.*1779+6156T>C) c.1970T>C (p.Phe657Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154947736A>T | CA414909088 | F8 | c.2075T>A (p.Phe692Tyr) c.*1779+6156T>A (n.*1779+6156T>A) c.1970T>A (p.Phe657Tyr) | |
X | g.154947737A>C | CA414909094 | F8 | c.2074T>G (p.Phe692Val) c.*1779+6155T>G (n.*1779+6155T>G) c.1969T>G (p.Phe657Val) | |
X | g.154947737A>G | CA414909102 | F8 | c.2074T>C (p.Phe692Leu) c.*1779+6155T>C (n.*1779+6155T>C) c.1969T>C (p.Phe657Leu) | |
X | g.154947737A>T | CA414909096 | F8 | c.2074T>A (p.Phe692Ile) c.*1779+6155T>A (n.*1779+6155T>A) c.1969T>A (p.Phe657Ile) | |
X | g.154947738T>A | CA519356380 | F8 | c.2073A>T (p.Pro691=) c.*1779+6154A>T (n.*1779+6154A>T) c.1968A>T (p.Pro656=) | |
X | g.154947738T>C | CA519356381 | F8 | c.2073A>G (p.Pro691=) c.*1779+6154A>G (n.*1779+6154A>G) c.1968A>G (p.Pro656=) | |
X | g.154947738T>G | CA519356383 | F8 | c.2073A>C (p.Pro691=) c.*1779+6154A>C (n.*1779+6154A>C) c.1968A>C (p.Pro656=) | |
X | g.154947739G>A | CA414909105 | F8 | c.2072C>T (p.Pro691Leu) c.*1779+6153C>T (n.*1779+6153C>T) c.1967C>T (p.Pro656Leu) | |
X | g.154947739G>C | CA414909108 | F8 | c.2072C>G (p.Pro691Arg) c.*1779+6153C>G (n.*1779+6153C>G) c.1967C>G (p.Pro656Arg) | |
X | g.154947739G>T | CA414909109 | F8 | c.2072C>A (p.Pro691Gln) c.*1779+6153C>A (n.*1779+6153C>A) c.1967C>A (p.Pro656Gln) | |
X | g.154947740G>A | CA414909111 | F8 | c.2071C>T (p.Pro691Ser) c.*1779+6152C>T (n.*1779+6152C>T) c.1966C>T (p.Pro656Ser) | dbSNP COSMIC COSMIC |
X | g.154947740G>C | CA414909114 | F8 | c.2071C>G (p.Pro691Ala) c.*1779+6152C>G (n.*1779+6152C>G) c.1966C>G (p.Pro656Ala) | |
X | g.154947740G= | CA2466842524 | F8 | c.2071C= (p.Pro691=) c.*1779+6152C= (n.*1779+6152C=) c.1966C= (p.Pro656=) | |
X | g.154947740G>T | CA414909116 | F8 | c.2071C>A (p.Pro691Thr) c.*1779+6152C>A (n.*1779+6152C>A) c.1966C>A (p.Pro656Thr) | |
X | g.154947741G>A | CA519356390 | F8 | c.2070C>T (p.Phe690=) c.*1779+6151C>T (n.*1779+6151C>T) c.1965C>T (p.Phe655=) | |
X | g.154947741G>C | CA414909119 | F8 | c.2070C>G (p.Phe690Leu) c.*1779+6151C>G (n.*1779+6151C>G) c.1965C>G (p.Phe655Leu) | |
X | g.154947741G>T | CA414909121 | F8 | c.2070C>A (p.Phe690Leu) c.*1779+6151C>A (n.*1779+6151C>A) c.1965C>A (p.Phe655Leu) | |
X | g.154947742A>C | CA414909125 | F8 | c.2069T>G (p.Phe690Cys) c.*1779+6150T>G (n.*1779+6150T>G) c.1964T>G (p.Phe655Cys) | |
X | g.154947742A>G | CA414909127 | F8 | c.2069T>C (p.Phe690Ser) c.*1779+6150T>C (n.*1779+6150T>C) c.1964T>C (p.Phe655Ser) | |
X | g.154947742A>T | CA414909129 | F8 | c.2069T>A (p.Phe690Tyr) c.*1779+6150T>A (n.*1779+6150T>A) c.1964T>A (p.Phe655Tyr) | |
X | g.154947743A>C | CA414909132 | F8 | c.2068T>G (p.Phe690Val) c.*1779+6149T>G (n.*1779+6149T>G) c.1963T>G (p.Phe655Val) | |
X | g.154947743A>G | CA414909138 | F8 | c.2068T>C (p.Phe690Leu) c.*1779+6149T>C (n.*1779+6149T>C) c.1963T>C (p.Phe655Leu) | |
X | g.154947743A>T | CA414909135 | F8 | c.2068T>A (p.Phe690Ile) c.*1779+6149T>A (n.*1779+6149T>A) c.1963T>A (p.Phe655Ile) | |
X | g.154947744T>A | CA519356403 | F8 | c.2067A>T (p.Leu689=) c.*1779+6148A>T (n.*1779+6148A>T) c.1962A>T (p.Leu654=) | |
X | g.154947744T>C | CA519356399 | F8 | c.2067A>G (p.Leu689=) c.*1779+6148A>G (n.*1779+6148A>G) c.1962A>G (p.Leu654=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154947744T>G | CA519356401 | F8 | c.2067A>C (p.Leu689=) c.*1779+6148A>C (n.*1779+6148A>C) c.1962A>C (p.Leu654=) | |
X | g.154947744T= | CA2466842525 | F8 | c.2067A= (p.Leu689=) c.*1779+6148A= (n.*1779+6148A=) c.1962A= (p.Leu654=) | |
X | g.154947745A= | CA2466842526 | F8 | c.2066T= (p.Leu689=) c.*1779+6147T= (n.*1779+6147T=) c.1961T= (p.Leu654=) | |
X | g.154947745A>C | CA414909140 | F8 | c.2066T>G (p.Leu689Arg) c.*1779+6147T>G (n.*1779+6147T>G) c.1961T>G (p.Leu654Arg) | |
X | g.154947745A>G | CA414909145 | F8 | c.2066T>C (p.Leu689Pro) c.*1779+6147T>C (n.*1779+6147T>C) c.1961T>C (p.Leu654Pro) | dbSNP |
X | g.154947745A>T | CA414909147 | F8 | c.2066T>A (p.Leu689Gln) c.*1779+6147T>A (n.*1779+6147T>A) c.1961T>A (p.Leu654Gln) | |
X | g.154947746G>A | CA519356408 | F8 | c.2065C>T (p.Leu689=) c.*1779+6146C>T (n.*1779+6146C>T) c.1960C>T (p.Leu654=) | |
X | g.154947746G>C | CA414909150 | F8 | c.2065C>G (p.Leu689Val) c.*1779+6146C>G (n.*1779+6146C>G) c.1960C>G (p.Leu654Val) | ClinVar |
X | g.154947746G>T | CA414909151 | F8 | c.2065C>A (p.Leu689Ile) c.*1779+6146C>A (n.*1779+6146C>A) c.1960C>A (p.Leu654Ile) | |
X | g.154947747G>A | CA10568367 | F8 | c.2064C>T (p.Thr688=) c.*1779+6145C>T (n.*1779+6145C>T) c.1959C>T (p.Thr653=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154947747G>C | CA519356412 | F8 | c.2064C>G (p.Thr688=) c.*1779+6145C>G (n.*1779+6145C>G) c.1959C>G (p.Thr653=) | |
X | g.154947747G= | CA2466842527 | F8 | c.2064C= (p.Thr688=) c.*1779+6145C= (n.*1779+6145C=) c.1959C= (p.Thr653=) | |
X | g.154947747G>T | CA519356414 | F8 | c.2064C>A (p.Thr688=) c.*1779+6145C>A (n.*1779+6145C>A) c.1959C>A (p.Thr653=) | |
X | g.154947748G>A | CA414909156 | F8 | c.2063C>T (p.Thr688Ile) c.*1779+6144C>T (n.*1779+6144C>T) c.1958C>T (p.Thr653Ile) | |
X | g.154947748G>C | CA414909159 | F8 | c.2063C>G (p.Thr688Ser) c.*1779+6144C>G (n.*1779+6144C>G) c.1958C>G (p.Thr653Ser) | |
X | g.154947748G>T | CA414909162 | F8 | c.2063C>A (p.Thr688Asn) c.*1779+6144C>A (n.*1779+6144C>A) c.1958C>A (p.Thr653Asn) | |
X | g.154947751_154947754del | CA2695237203 | F8 | c.2060_2063del (p.Leu687ProfsTer?) c.*1779+6141_*1779+6144del (n.*1779+6141_*1779+6144del) c.1955_1958del (p.Leu652ProfsTer?) | |
X | g.154947749T>A | CA414909168 | F8 | c.2062A>T (p.Thr688Ser) c.*1779+6143A>T (n.*1779+6143A>T) c.1957A>T (p.Thr653Ser) | |
X | g.154947749T>C | CA414909170 | F8 | c.2062A>G (p.Thr688Ala) c.*1779+6143A>G (n.*1779+6143A>G) c.1957A>G (p.Thr653Ala) | |
X | g.154947749T>G | CA414909166 | F8 | c.2062A>C (p.Thr688Pro) c.*1779+6143A>C (n.*1779+6143A>C) c.1957A>C (p.Thr653Pro) | |
X | g.154947749dup | CA2695237204 | F8 | c.2062dup (p.Thr688AsnfsTer?) c.*1779+6143dup (n.*1779+6143dup) c.1957dup (p.Thr653AsnfsTer?) | |
X | g.154947750G>A | CA519356421 | F8 | c.2061C>T (p.Leu687=) c.*1779+6142C>T (n.*1779+6142C>T) c.1956C>T (p.Leu652=) | COSMIC COSMIC |
X | g.154947750G>C | CA519356423 | F8 | c.2061C>G (p.Leu687=) c.*1779+6142C>G (n.*1779+6142C>G) c.1956C>G (p.Leu652=) | |
X | g.154947750G>T | CA519356425 | F8 | c.2061C>A (p.Leu687=) c.*1779+6142C>A (n.*1779+6142C>A) c.1956C>A (p.Leu652=) | |
X | g.154947751A>C | CA414909174 | F8 | c.2060T>G (p.Leu687Arg) c.*1779+6141T>G (n.*1779+6141T>G) c.1955T>G (p.Leu652Arg) | |
X | g.154947751A>G | CA414909176 | F8 | c.2060T>C (p.Leu687Pro) c.*1779+6141T>C (n.*1779+6141T>C) c.1955T>C (p.Leu652Pro) | |
X | g.154947751A>T | CA414909179 | F8 | c.2060T>A (p.Leu687His) c.*1779+6141T>A (n.*1779+6141T>A) c.1955T>A (p.Leu652His) | |
X | g.154947751_154947753delinsAGT | CA2466842528 | F8 | c.2058_2060delinsACT (p.Thr686=) c.*1779+6139_*1779+6141delinsACT (n.*1779+6139_*1779+6141delinsACT) c.1953_1955delinsACT (p.Thr651=) | |
X | g.154947752G>A | CA414909183 | F8 | c.2059C>T (p.Leu687Phe) c.*1779+6140C>T (n.*1779+6140C>T) c.1954C>T (p.Leu652Phe) | |
X | g.154947752G>C | CA414909186 | F8 | c.2059C>G (p.Leu687Val) c.*1779+6140C>G (n.*1779+6140C>G) c.1954C>G (p.Leu652Val) | |
X | g.154947752G>T | CA414909196 | F8 | c.2059C>A (p.Leu687Ile) c.*1779+6140C>A (n.*1779+6140C>A) c.1954C>A (p.Leu652Ile) | |
X | g.154947756_154947757del | CA873350209 | F8 | c.2058_2059del (p.Leu687HisfsTer?) c.*1779+6139_*1779+6140del (n.*1779+6139_*1779+6140del) c.1953_1954del (p.Leu652HisfsTer?) | dbSNP |
X | g.154947753T>A | CA519356432 | F8 | c.2058A>T (p.Thr686=) c.*1779+6139A>T (n.*1779+6139A>T) c.1953A>T (p.Thr651=) | |
X | g.154947753T>C | CA10568368 | F8 | c.2058A>G (p.Thr686=) c.*1779+6139A>G (n.*1779+6139A>G) c.1953A>G (p.Thr651=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154947753T>G | CA519356435 | F8 | c.2058A>C (p.Thr686=) c.*1779+6139A>C (n.*1779+6139A>C) c.1953A>C (p.Thr651=) | |
X | g.154947753T= | CA2466842529 | F8 | c.2058A= (p.Thr686=) c.*1779+6139A= (n.*1779+6139A=) c.1953A= (p.Thr651=) | |
X | g.154947754G>A | CA414909200 | F8 | c.2057C>T (p.Thr686Ile) c.*1779+6138C>T (n.*1779+6138C>T) c.1952C>T (p.Thr651Ile) | |
X | g.154947754G>C | CA414909202 | F8 | c.2057C>G (p.Thr686Arg) c.*1779+6138C>G (n.*1779+6138C>G) c.1952C>G (p.Thr651Arg) | |
X | g.154947754G>T | CA414909203 | F8 | c.2057C>A (p.Thr686Lys) c.*1779+6138C>A (n.*1779+6138C>A) c.1952C>A (p.Thr651Lys) | |
X | g.154947755T>A | CA414909204 | F8 | c.2056A>T (p.Thr686Ser) c.*1779+6137A>T (n.*1779+6137A>T) c.1951A>T (p.Thr651Ser) | |
X | g.154947755T>C | CA414909205 | F8 | c.2056A>G (p.Thr686Ala) c.*1779+6137A>G (n.*1779+6137A>G) c.1951A>G (p.Thr651Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154947755T>G | CA414909206 | F8 | c.2056A>C (p.Thr686Pro) c.*1779+6137A>C (n.*1779+6137A>C) c.1951A>C (p.Thr651Pro) | |
X | g.154947755T= | CA2466842530 | F8 | c.2056A= (p.Thr686=) c.*1779+6137A= (n.*1779+6137A=) c.1951A= (p.Thr651=) | |
X | g.154947756G>A | CA519356442 | F8 | c.2055C>T (p.Asp685=) c.*1779+6136C>T (n.*1779+6136C>T) c.1950C>T (p.Asp650=) | |
X | g.154947756G>C | CA414909208 | F8 | c.2055C>G (p.Asp685Glu) c.*1779+6136C>G (n.*1779+6136C>G) c.1950C>G (p.Asp650Glu) | |
X | g.154947756G>T | CA414909210 | F8 | c.2055C>A (p.Asp685Glu) c.*1779+6136C>A (n.*1779+6136C>A) c.1950C>A (p.Asp650Glu) | |
X | g.154947757T>A | CA414909212 | F8 | c.2054A>T (p.Asp685Val) c.*1779+6135A>T (n.*1779+6135A>T) c.1949A>T (p.Asp650Val) | dbSNP |
X | g.154947757T>C | CA414909213 | F8 | c.2054A>G (p.Asp685Gly) c.*1779+6135A>G (n.*1779+6135A>G) c.1949A>G (p.Asp650Gly) | dbSNP |
X | g.154947757T>G | CA414909214 | F8 | c.2054A>C (p.Asp685Ala) c.*1779+6135A>C (n.*1779+6135A>C) c.1949A>C (p.Asp650Ala) | |
X | g.154947757T= | CA2466842531 | F8 | c.2054A= (p.Asp685=) c.*1779+6135A= (n.*1779+6135A=) c.1949A= (p.Asp650=) | |
X | g.154947758C>A | CA414909217 | F8 | c.2053G>T (p.Asp685Tyr) c.*1779+6134G>T (n.*1779+6134G>T) c.1948G>T (p.Asp650Tyr) | |
X | g.154947758C= | CA2466842532 | F8 | c.2053G= (p.Asp685=) c.*1779+6134G= (n.*1779+6134G=) c.1948G= (p.Asp650=) | |
X | g.154947758C>G | CA414909218 | F8 | c.2053G>C (p.Asp685His) c.*1779+6134G>C (n.*1779+6134G>C) c.1948G>C (p.Asp650His) | |
X | g.154947758C>T | CA414909220 | F8 | c.2053G>A (p.Asp685Asn) c.*1779+6134G>A (n.*1779+6134G>A) c.1948G>A (p.Asp650Asn) | dbSNP |
X | g.154947759T>A | CA414909221 | F8 | c.2052A>T (p.Glu684Asp) c.*1779+6133A>T (n.*1779+6133A>T) c.1947A>T (p.Glu649Asp) | |
X | g.154947759T>C | CA519356451 | F8 | c.2052A>G (p.Glu684=) c.*1779+6133A>G (n.*1779+6133A>G) c.1947A>G (p.Glu649=) | |
X | g.154947759T>G | CA414909222 | F8 | c.2052A>C (p.Glu684Asp) c.*1779+6133A>C (n.*1779+6133A>C) c.1947A>C (p.Glu649Asp) | |
X | g.154947760T>A | CA414909224 | F8 | c.2051A>T (p.Glu684Val) c.*1779+6132A>T (n.*1779+6132A>T) c.1946A>T (p.Glu649Val) | |
X | g.154947760T>C | CA414909226 | F8 | c.2051A>G (p.Glu684Gly) c.*1779+6132A>G (n.*1779+6132A>G) c.1946A>G (p.Glu649Gly) | |
X | g.154947760T>G | CA414909228 | F8 | c.2051A>C (p.Glu684Ala) c.*1779+6132A>C (n.*1779+6132A>C) c.1946A>C (p.Glu649Ala) | |
X | g.154947761C>A | CA414909229 | F8 | c.2050G>T (p.Glu684Ter) c.*1779+6131G>T (n.*1779+6131G>T) c.1945G>T (p.Glu649Ter) | |
X | g.154947761C>G | CA414909232 | F8 | c.2050G>C (p.Glu684Gln) c.*1779+6131G>C (n.*1779+6131G>C) c.1945G>C (p.Glu649Gln) | |
X | g.154947761C>T | CA414909230 | F8 | c.2050G>A (p.Glu684Lys) c.*1779+6131G>A (n.*1779+6131G>A) c.1945G>A (p.Glu649Lys) | |
X | g.154947762A>C | CA414909234 | F8 | c.2049T>G (p.Tyr683Ter) c.*1779+6130T>G (n.*1779+6130T>G) c.1944T>G (p.Tyr648Ter) | gnomAD v4 |
X | g.154947762A>G | CA519356461 | F8 | c.2049T>C (p.Tyr683=) c.*1779+6130T>C (n.*1779+6130T>C) c.1944T>C (p.Tyr648=) | COSMIC COSMIC |
X | g.154947762A>T | CA414909235 | F8 | c.2049T>A (p.Tyr683Ter) c.*1779+6130T>A (n.*1779+6130T>A) c.1944T>A (p.Tyr648Ter) | |
X | g.154947763T>A | CA414909237 | F8 | c.2048A>T (p.Tyr683Phe) c.*1779+6129A>T (n.*1779+6129A>T) c.1943A>T (p.Tyr648Phe) | |
X | g.154947763T>C | CA414909238 | F8 | c.2048A>G (p.Tyr683Cys) c.*1779+6129A>G (n.*1779+6129A>G) c.1943A>G (p.Tyr648Cys) | ClinVar dbSNP gnomAD v4 |
X | g.154947763T>G | CA414909240 | F8 | c.2048A>C (p.Tyr683Ser) c.*1779+6129A>C (n.*1779+6129A>C) c.1943A>C (p.Tyr648Ser) | |
X | g.154947763T= | CA2466842533 | F8 | c.2048A= (p.Tyr683=) c.*1779+6129A= (n.*1779+6129A=) c.1943A= (p.Tyr648=) | |
X | g.154947764A= | CA2466842534 | F8 | c.2047T= (p.Tyr683=) c.*1779+6128T= (n.*1779+6128T=) c.1942T= (p.Tyr648=) | |
X | g.154947764A>C | CA414909241 | F8 | c.2047T>G (p.Tyr683Asp) c.*1779+6128T>G (n.*1779+6128T>G) c.1942T>G (p.Tyr648Asp) | |
X | g.154947764A>G | CA414909242 | F8 | c.2047T>C (p.Tyr683His) c.*1779+6128T>C (n.*1779+6128T>C) c.1942T>C (p.Tyr648His) | |
X | g.154947764A>T | CA414909244 | F8 | c.2047T>A (p.Tyr683Asn) c.*1779+6128T>A (n.*1779+6128T>A) c.1942T>A (p.Tyr648Asn) | dbSNP |
X | g.154947765G>A | CA519356474 | F8 | c.2046C>T (p.Val682=) c.*1779+6127C>T (n.*1779+6127C>T) c.1941C>T (p.Val647=) | dbSNP COSMIC COSMIC |
X | g.154947765G>C | CA519356472 | F8 | c.2046C>G (p.Val682=) c.*1779+6127C>G (n.*1779+6127C>G) c.1941C>G (p.Val647=) | gnomAD v4 |
X | g.154947765G= | CA2466842535 | F8 | c.2046C= (p.Val682=) c.*1779+6127C= (n.*1779+6127C=) c.1941C= (p.Val647=) | |
X | g.154947765G>T | CA519356471 | F8 | c.2046C>A (p.Val682=) c.*1779+6127C>A (n.*1779+6127C>A) c.1941C>A (p.Val647=) | |
X | g.154947766A>C | CA414909246 | F8 | c.2045T>G (p.Val682Gly) c.*1779+6126T>G (n.*1779+6126T>G) c.1940T>G (p.Val647Gly) | |
X | g.154947766A>G | CA414909247 | F8 | c.2045T>C (p.Val682Ala) c.*1779+6126T>C (n.*1779+6126T>C) c.1940T>C (p.Val647Ala) | ClinVar |
X | g.154947766A>T | CA414909249 | F8 | c.2045T>A (p.Val682Asp) c.*1779+6126T>A (n.*1779+6126T>A) c.1940T>A (p.Val647Asp) | |
X | g.154947767C>A | CA414909250 | F8 | c.2044G>T (p.Val682Phe) c.*1779+6125G>T (n.*1779+6125G>T) c.1939G>T (p.Val647Phe) | ClinVar dbSNP |
X | g.154947767C= | CA2466842536 | F8 | c.2044G= (p.Val682=) c.*1779+6125G= (n.*1779+6125G=) c.1939G= (p.Val647=) | |
X | g.154947767C>G | CA414909252 | F8 | c.2044G>C (p.Val682Leu) c.*1779+6125G>C (n.*1779+6125G>C) c.1939G>C (p.Val647Leu) | |
X | g.154947767C>T | CA414909254 | F8 | c.2044G>A (p.Val682Ile) c.*1779+6125G>A (n.*1779+6125G>A) c.1939G>A (p.Val647Ile) | gnomAD v4 |
X | g.154947768C>A | CA414909259 | F8 | c.2043G>T (p.Met681Ile) c.*1779+6124G>T (n.*1779+6124G>T) c.1938G>T (p.Met646Ile) | |
X | g.154947768C= | CA2466842537 | F8 | c.2043G= (p.Met681=) c.*1779+6124G= (n.*1779+6124G=) c.1938G= (p.Met646=) | |
X | g.154947768C>G | CA414909256 | F8 | c.2043G>C (p.Met681Ile) c.*1779+6124G>C (n.*1779+6124G>C) c.1938G>C (p.Met646Ile) | ClinVar dbSNP |
X | g.154947768C>T | CA414909257 | F8 | c.2043G>A (p.Met681Ile) c.*1779+6124G>A (n.*1779+6124G>A) c.1938G>A (p.Met646Ile) | ClinVar |
X | g.154947768_154947771del | CA2695237205 | F8 | c.2040_2043del (p.Met681SerfsTer?) c.*1779+6121_*1779+6124del (n.*1779+6121_*1779+6124del) c.1935_1938del (p.Met646SerfsTer?) | |
X | g.154947769A>C | CA414909261 | F8 | c.2042T>G (p.Met681Arg) c.*1779+6123T>G (n.*1779+6123T>G) c.1937T>G (p.Met646Arg) | |
X | g.154947769A>G | CA414909262 | F8 | c.2042T>C (p.Met681Thr) c.*1779+6123T>C (n.*1779+6123T>C) c.1937T>C (p.Met646Thr) | |
X | g.154947769A>T | CA414909264 | F8 | c.2042T>A (p.Met681Lys) c.*1779+6123T>A (n.*1779+6123T>A) c.1937T>A (p.Met646Lys) | |
X | g.154947770T>A | CA414909265 | F8 | c.2041A>T (p.Met681Leu) c.*1779+6122A>T (n.*1779+6122A>T) c.1936A>T (p.Met646Leu) | |
X | g.154947770T>C | CA414909267 | F8 | c.2041A>G (p.Met681Val) c.*1779+6122A>G (n.*1779+6122A>G) c.1936A>G (p.Met646Val) | |
X | g.154947770T>G | CA414909269 | F8 | c.2041A>C (p.Met681Leu) c.*1779+6122A>C (n.*1779+6122A>C) c.1936A>C (p.Met646Leu) | |
X | g.154947771T>A | CA414909270 | F8 | c.2040A>T (p.Lys680Asn) c.*1779+6121A>T (n.*1779+6121A>T) c.1935A>T (p.Lys645Asn) | |
X | g.154947771T>C | CA519356508 | F8 | c.2040A>G (p.Lys680=) c.*1779+6121A>G (n.*1779+6121A>G) c.1935A>G (p.Lys645=) | |
X | g.154947771T>G | CA414909271 | F8 | c.2040A>C (p.Lys680Asn) c.*1779+6121A>C (n.*1779+6121A>C) c.1935A>C (p.Lys645Asn) | |
X | g.154947775_154947780del | CA2695237206 | F8 | c.2035_2040del (p.His679_Lys680del) c.*1779+6116_*1779+6121del (n.*1779+6116_*1779+6121del) c.1930_1935del (p.His644_Lys645del) | |
X | g.154947772T>A | CA414909274 | F8 | c.2039A>T (p.Lys680Ile) c.*1779+6120A>T (n.*1779+6120A>T) c.1934A>T (p.Lys645Ile) | |
X | g.154947772T>C | CA414909275 | F8 | c.2039A>G (p.Lys680Arg) c.*1779+6120A>G (n.*1779+6120A>G) c.1934A>G (p.Lys645Arg) | |
X | g.154947772T>G | CA414909277 | F8 | c.2039A>C (p.Lys680Thr) c.*1779+6120A>C (n.*1779+6120A>C) c.1934A>C (p.Lys645Thr) | |
X | g.154947773T>A | CA414909278 | F8 | c.2038A>T (p.Lys680Ter) c.*1779+6119A>T (n.*1779+6119A>T) c.1933A>T (p.Lys645Ter) | |
X | g.154947773T>C | CA414909281 | F8 | c.2038A>G (p.Lys680Glu) c.*1779+6119A>G (n.*1779+6119A>G) c.1933A>G (p.Lys645Glu) | |
X | g.154947773T>G | CA414909280 | F8 | c.2038A>C (p.Lys680Gln) c.*1779+6119A>C (n.*1779+6119A>C) c.1933A>C (p.Lys645Gln) | |
X | g.154947774G>A | CA519356517 | F8 | c.2037C>T (p.His679=) c.*1779+6118C>T (n.*1779+6118C>T) c.1932C>T (p.His644=) | |
X | g.154947774G>C | CA414909283 | F8 | c.2037C>G (p.His679Gln) c.*1779+6118C>G (n.*1779+6118C>G) c.1932C>G (p.His644Gln) | |
X | g.154947774G>T | CA414909284 | F8 | c.2037C>A (p.His679Gln) c.*1779+6118C>A (n.*1779+6118C>A) c.1932C>A (p.His644Gln) | |
X | g.154947775T>A | CA414909286 | F8 | c.2036A>T (p.His679Leu) c.*1779+6117A>T (n.*1779+6117A>T) c.1931A>T (p.His644Leu) | |
X | g.154947775T>C | CA414909288 | F8 | c.2036A>G (p.His679Arg) c.*1779+6117A>G (n.*1779+6117A>G) c.1931A>G (p.His644Arg) | |
X | g.154947775T>G | CA414909289 | F8 | c.2036A>C (p.His679Pro) c.*1779+6117A>C (n.*1779+6117A>C) c.1931A>C (p.His644Pro) | |
X | g.154947777_154947780dup | CA2695237207 | F8 | c.2033_2036dup (p.His679GlnfsTer7) c.*1779+6114_*1779+6117dup (n.*1779+6114_*1779+6117dup) c.1928_1931dup (p.His644GlnfsTer7) | |
X | g.154947776G>A | CA414909291 | F8 | c.2035C>T (p.His679Tyr) c.*1779+6116C>T (n.*1779+6116C>T) c.1930C>T (p.His644Tyr) | |
X | g.154947776G>C | CA414909292 | F8 | c.2035C>G (p.His679Asp) c.*1779+6116C>G (n.*1779+6116C>G) c.1930C>G (p.His644Asp) | |
X | g.154947776G>T | CA414909294 | F8 | c.2035C>A (p.His679Asn) c.*1779+6116C>A (n.*1779+6116C>A) c.1930C>A (p.His644Asn) | |
X | g.154947777T>A | CA414909296 | F8 | c.2034A>T (p.Lys678Asn) c.*1779+6115A>T (n.*1779+6115A>T) c.1929A>T (p.Lys643Asn) | |
X | g.154947777T>C | CA519356529 | F8 | c.2034A>G (p.Lys678=) c.*1779+6115A>G (n.*1779+6115A>G) c.1929A>G (p.Lys643=) | |
X | g.154947777T>G | CA414909298 | F8 | c.2034A>C (p.Lys678Asn) c.*1779+6115A>C (n.*1779+6115A>C) c.1929A>C (p.Lys643Asn) | |
X | g.154947778T>A | CA414909302 | F8 | c.2033A>T (p.Lys678Ile) c.*1779+6114A>T (n.*1779+6114A>T) c.1928A>T (p.Lys643Ile) | |
X | g.154947778T>C | CA414909301 | F8 | c.2033A>G (p.Lys678Arg) c.*1779+6114A>G (n.*1779+6114A>G) c.1928A>G (p.Lys643Arg) | |
X | g.154947778T>G | CA414909300 | F8 | c.2033A>C (p.Lys678Thr) c.*1779+6114A>C (n.*1779+6114A>C) c.1928A>C (p.Lys643Thr) | |
X | g.154947779T>A | CA414909305 | F8 | c.2032A>T (p.Lys678Ter) c.*1779+6113A>T (n.*1779+6113A>T) c.1927A>T (p.Lys643Ter) | |
X | g.154947779T>C | CA414909306 | F8 | c.2032A>G (p.Lys678Glu) c.*1779+6113A>G (n.*1779+6113A>G) c.1927A>G (p.Lys643Glu) | |
X | g.154947779T>G | CA414909308 | F8 | c.2032A>C (p.Lys678Gln) c.*1779+6113A>C (n.*1779+6113A>C) c.1927A>C (p.Lys643Gln) | |
X | g.154947780G>A | CA519356541 | F8 | c.2031C>T (p.Phe677=) c.*1779+6112C>T (n.*1779+6112C>T) c.1926C>T (p.Phe642=) | |
X | g.154947780G>C | CA414909309 | F8 | c.2031C>G (p.Phe677Leu) c.*1779+6112C>G (n.*1779+6112C>G) c.1926C>G (p.Phe642Leu) | dbSNP |
X | g.154947780G= | CA2466842538 | F8 | c.2031C= (p.Phe677=) c.*1779+6112C= (n.*1779+6112C=) c.1926C= (p.Phe642=) | |
X | g.154947780G>T | CA414909311 | F8 | c.2031C>A (p.Phe677Leu) c.*1779+6112C>A (n.*1779+6112C>A) c.1926C>A (p.Phe642Leu) | dbSNP |
X | g.154947781A>C | CA414909313 | F8 | c.2030T>G (p.Phe677Cys) c.*1779+6111T>G (n.*1779+6111T>G) c.1925T>G (p.Phe642Cys) | |
X | g.154947781A>G | CA414909315 | F8 | c.2030T>C (p.Phe677Ser) c.*1779+6111T>C (n.*1779+6111T>C) c.1925T>C (p.Phe642Ser) | |
X | g.154947781A>T | CA414909316 | F8 | c.2030T>A (p.Phe677Tyr) c.*1779+6111T>A (n.*1779+6111T>A) c.1925T>A (p.Phe642Tyr) | |
X | g.154947782del | CA2695237208 | F8 | c.2030del (p.Phe677SerfsTer?) c.*1779+6111del (n.*1779+6111del) c.1925del (p.Phe642SerfsTer?) | |
X | g.154947782A= | CA2466842539 | F8 | c.2029T= (p.Phe677=) c.*1779+6110T= (n.*1779+6110T=) c.1924T= (p.Phe642=) | |
X | g.154947782A>C | CA414909318 | F8 | c.2029T>G (p.Phe677Val) c.*1779+6110T>G (n.*1779+6110T>G) c.1924T>G (p.Phe642Val) | |
X | g.154947782A>G | CA255136 | F8 | c.2029T>C (p.Phe677Leu) c.*1779+6110T>C (n.*1779+6110T>C) c.1924T>C (p.Phe642Leu) | ClinVar dbSNP |
X | g.154947782A>T | CA414909320 | F8 | c.2029T>A (p.Phe677Ile) c.*1779+6110T>A (n.*1779+6110T>A) c.1924T>A (p.Phe642Ile) | |
X | g.154947783G>A | CA519356548 | F8 | c.2028C>T (p.Thr676=) c.*1779+6109C>T (n.*1779+6109C>T) c.1923C>T (p.Thr641=) | |
X | g.154947783G>C | CA519356549 | F8 | c.2028C>G (p.Thr676=) c.*1779+6109C>G (n.*1779+6109C>G) c.1923C>G (p.Thr641=) | |
X | g.154947783G>T | CA519356551 | F8 | c.2028C>A (p.Thr676=) c.*1779+6109C>A (n.*1779+6109C>A) c.1923C>A (p.Thr641=) | gnomAD v4 |
X | g.154947784G>A | CA414909323 | F8 | c.2027C>T (p.Thr676Ile) c.*1779+6108C>T (n.*1779+6108C>T) c.1922C>T (p.Thr641Ile) | gnomAD v4 |
X | g.154947784G>C | CA414909325 | F8 | c.2027C>G (p.Thr676Ser) c.*1779+6108C>G (n.*1779+6108C>G) c.1922C>G (p.Thr641Ser) | |
X | g.154947784G>T | CA414909322 | F8 | c.2027C>A (p.Thr676Asn) c.*1779+6108C>A (n.*1779+6108C>A) c.1922C>A (p.Thr641Asn) | |
X | g.154947785T>A | CA414909329 | F8 | c.2026A>T (p.Thr676Ser) c.*1779+6107A>T (n.*1779+6107A>T) c.1921A>T (p.Thr641Ser) | |
X | g.154947785T>C | CA414909327 | F8 | c.2026A>G (p.Thr676Ala) c.*1779+6107A>G (n.*1779+6107A>G) c.1921A>G (p.Thr641Ala) | gnomAD v4 |
X | g.154947785T>G | CA414909328 | F8 | c.2026A>C (p.Thr676Pro) c.*1779+6107A>C (n.*1779+6107A>C) c.1921A>C (p.Thr641Pro) | |
X | g.154947786A>C | CA414909331 | F8 | c.2025T>G (p.Tyr675Ter) c.*1779+6106T>G (n.*1779+6106T>G) c.1920T>G (p.Tyr640Ter) | |
X | g.154947786A>G | CA519356558 | F8 | c.2025T>C (p.Tyr675=) c.*1779+6106T>C (n.*1779+6106T>C) c.1920T>C (p.Tyr640=) | gnomAD v4 |
X | g.154947786A>T | CA414909333 | F8 | c.2025T>A (p.Tyr675Ter) c.*1779+6106T>A (n.*1779+6106T>A) c.1920T>A (p.Tyr640Ter) | |
X | g.154947787T>A | CA414909334 | F8 | c.2024A>T (p.Tyr675Phe) c.*1779+6105A>T (n.*1779+6105A>T) c.1919A>T (p.Tyr640Phe) | |
X | g.154947787T>C | CA414909336 | F8 | c.2024A>G (p.Tyr675Cys) c.*1779+6105A>G (n.*1779+6105A>G) c.1919A>G (p.Tyr640Cys) | |
X | g.154947787T>G | CA414909338 | F8 | c.2024A>C (p.Tyr675Ser) c.*1779+6105A>C (n.*1779+6105A>C) c.1919A>C (p.Tyr640Ser) | |
X | g.154947788A>C | CA414909339 | F8 | c.2023T>G (p.Tyr675Asp) c.*1779+6104T>G (n.*1779+6104T>G) c.1918T>G (p.Tyr640Asp) | |
X | g.154947788A>G | CA414909341 | F8 | c.2023T>C (p.Tyr675His) c.*1779+6104T>C (n.*1779+6104T>C) c.1918T>C (p.Tyr640His) | |
X | g.154947788A>T | CA414909342 | F8 | c.2023T>A (p.Tyr675Asn) c.*1779+6104T>A (n.*1779+6104T>A) c.1918T>A (p.Tyr640Asn) | |
X | g.154947789T>A | CA519356566 | F8 | c.2022A>T (p.Gly674=) c.*1779+6103A>T (n.*1779+6103A>T) c.1917A>T (p.Gly639=) | |
X | g.154947789T>C | CA519356568 | F8 | c.2022A>G (p.Gly674=) c.*1779+6103A>G (n.*1779+6103A>G) c.1917A>G (p.Gly639=) | |
X | g.154947789T>G | CA519356569 | F8 | c.2022A>C (p.Gly674=) c.*1779+6103A>C (n.*1779+6103A>C) c.1917A>C (p.Gly639=) | |
X | g.154947790C>A | CA414909347 | F8 | c.2021G>T (p.Gly674Val) c.*1779+6102G>T (n.*1779+6102G>T) c.1916G>T (p.Gly639Val) | |
X | g.154947790C>G | CA414909346 | F8 | c.2021G>C (p.Gly674Ala) c.*1779+6102G>C (n.*1779+6102G>C) c.1916G>C (p.Gly639Ala) | |
X | g.154947790C>T | CA414909344 | F8 | c.2021G>A (p.Gly674Glu) c.*1779+6102G>A (n.*1779+6102G>A) c.1916G>A (p.Gly639Glu) | COSMIC COSMIC |
X | g.154947791C>A | CA414909349 | F8 | c.2020G>T (p.Gly674Ter) c.*1779+6101G>T (n.*1779+6101G>T) c.1915G>T (p.Gly639Ter) | |
X | g.154947791C= | CA2466842540 | F8 | c.2020G= (p.Gly674=) c.*1779+6101G= (n.*1779+6101G=) c.1915G= (p.Gly639=) | |
X | g.154947791C>G | CA414909350 | F8 | c.2020G>C (p.Gly674Arg) c.*1779+6101G>C (n.*1779+6101G>C) c.1915G>C (p.Gly639Arg) | |
X | g.154947791C>T | CA414909352 | F8 | c.2020G>A (p.Gly674Arg) c.*1779+6101G>A (n.*1779+6101G>A) c.1915G>A (p.Gly639Arg) | COSMIC COSMIC |
X | g.154947792A>C | CA519356579 | F8 | c.2019T>G (p.Ser673=) c.*1779+6100T>G (n.*1779+6100T>G) c.1914T>G (p.Ser638=) | |
X | g.154947792A>G | CA519356582 | F8 | c.2019T>C (p.Ser673=) c.*1779+6100T>C (n.*1779+6100T>C) c.1914T>C (p.Ser638=) | gnomAD v4 |
X | g.154947792A>T | CA519356580 | F8 | c.2019T>A (p.Ser673=) c.*1779+6100T>A (n.*1779+6100T>A) c.1914T>A (p.Ser638=) | |
X | g.154947792dup | CA2466842541 | F8 | c.2019dup (p.Gly674TrpfsTer11) c.*1779+6100dup (n.*1779+6100dup) c.1914dup (p.Gly639TrpfsTer11) | dbSNP |
X | g.154947793G>A | CA414909354 | F8 | c.2018C>T (p.Ser673Phe) c.*1779+6099C>T (n.*1779+6099C>T) c.1913C>T (p.Ser638Phe) | |
X | g.154947793G>C | CA414909356 | F8 | c.2018C>G (p.Ser673Cys) c.*1779+6099C>G (n.*1779+6099C>G) c.1913C>G (p.Ser638Cys) | |
X | g.154947793G>T | CA414909357 | F8 | c.2018C>A (p.Ser673Tyr) c.*1779+6099C>A (n.*1779+6099C>A) c.1913C>A (p.Ser638Tyr) | |
X | g.154947793_154947796delinsGAGA | CA2466842542 | F8 | c.2015_2018delinsTCTC (p.Phe672=) c.*1779+6096_*1779+6099delinsTCTC (n.*1779+6096_*1779+6099delinsTCTC) c.1910_1913delinsTCTC (p.Phe637=) | |
X | g.154947794A>C | CA414909359 | F8 | c.2017T>G (p.Ser673Ala) c.*1779+6098T>G (n.*1779+6098T>G) c.1912T>G (p.Ser638Ala) | |
X | g.154947794A>G | CA414909361 | F8 | c.2017T>C (p.Ser673Pro) c.*1779+6098T>C (n.*1779+6098T>C) c.1912T>C (p.Ser638Pro) | |
X | g.154947794A>T | CA414909363 | F8 | c.2017T>A (p.Ser673Thr) c.*1779+6098T>A (n.*1779+6098T>A) c.1912T>A (p.Ser638Thr) | |
X | g.154947800_154947802del | CA873350278 | F8 | c.2015_2017del (p.Phe672del) c.*1779+6096_*1779+6098del (n.*1779+6096_*1779+6098del) c.1910_1912del (p.Phe637del) | ClinVar dbSNP gnomAD v4 |
X | g.154947795G>A | CA519356592 | F8 | c.2016C>T (p.Phe672=) c.*1779+6097C>T (n.*1779+6097C>T) c.1911C>T (p.Phe637=) | gnomAD v4 |
X | g.154947795G>C | CA414909364 | F8 | c.2016C>G (p.Phe672Leu) c.*1779+6097C>G (n.*1779+6097C>G) c.1911C>G (p.Phe637Leu) | |
X | g.154947795G>T | CA414909365 | F8 | c.2016C>A (p.Phe672Leu) c.*1779+6097C>A (n.*1779+6097C>A) c.1911C>A (p.Phe637Leu) | |
X | g.154947796A>C | CA414909368 | F8 | c.2015T>G (p.Phe672Cys) c.*1779+6096T>G (n.*1779+6096T>G) c.1910T>G (p.Phe637Cys) | |
X | g.154947796A>G | CA414909370 | F8 | c.2015T>C (p.Phe672Ser) c.*1779+6096T>C (n.*1779+6096T>C) c.1910T>C (p.Phe637Ser) | |
X | g.154947796A>T | CA414909366 | F8 | c.2015T>A (p.Phe672Tyr) c.*1779+6096T>A (n.*1779+6096T>A) c.1910T>A (p.Phe637Tyr) | |
X | g.154947797A= | CA2466842543 | F8 | c.2014T= (p.Phe672=) c.*1779+6095T= (n.*1779+6095T=) c.1909T= (p.Phe637=) | |
X | g.154947797A>C | CA414909371 | F8 | c.2014T>G (p.Phe672Val) c.*1779+6095T>G (n.*1779+6095T>G) c.1909T>G (p.Phe637Val) | |
X | g.154947797A>G | CA414909373 | F8 | c.2014T>C (p.Phe672Leu) c.*1779+6095T>C (n.*1779+6095T>C) c.1909T>C (p.Phe637Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154947797A>T | CA414909375 | F8 | c.2014T>A (p.Phe672Ile) c.*1779+6095T>A (n.*1779+6095T>A) c.1909T>A (p.Phe637Ile) | |
X | g.154947798G>A | CA519356603 | F8 | c.2013C>T (p.Phe671=) c.*1779+6094C>T (n.*1779+6094C>T) c.1908C>T (p.Phe636=) | |
X | g.154947798G>C | CA414909376 | F8 | c.2013C>G (p.Phe671Leu) c.*1779+6094C>G (n.*1779+6094C>G) c.1908C>G (p.Phe636Leu) | |
X | g.154947798G>T | CA414909378 | F8 | c.2013C>A (p.Phe671Leu) c.*1779+6094C>A (n.*1779+6094C>A) c.1908C>A (p.Phe636Leu) | |
X | g.154947798dup | CA2695237209 | F8 | c.2013dup (p.Phe672LeufsTer13) c.*1779+6094dup (n.*1779+6094dup) c.1908dup (p.Phe637LeufsTer13) | |
X | g.154947799A= | CA2466842544 | F8 | c.2012T= (p.Phe671=) c.*1779+6093T= (n.*1779+6093T=) c.1907T= (p.Phe636=) | |
X | g.154947799A>C | CA414909379 | F8 | c.2012T>G (p.Phe671Cys) c.*1779+6093T>G (n.*1779+6093T>G) c.1907T>G (p.Phe636Cys) | |
X | g.154947799A>G | CA414909381 | F8 | c.2012T>C (p.Phe671Ser) c.*1779+6093T>C (n.*1779+6093T>C) c.1907T>C (p.Phe636Ser) | dbSNP |
X | g.154947799A>T | CA414909383 | F8 | c.2012T>A (p.Phe671Tyr) c.*1779+6093T>A (n.*1779+6093T>A) c.1907T>A (p.Phe636Tyr) | |
X | g.154947800A= | CA2466842545 | F8 | c.2011T= (p.Phe671=) c.*1779+6092T= (n.*1779+6092T=) c.1906T= (p.Phe636=) | |
X | g.154947800A>C | CA414909385 | F8 | c.2011T>G (p.Phe671Val) c.*1779+6092T>G (n.*1779+6092T>G) c.1906T>G (p.Phe636Val) | dbSNP |
X | g.154947800A>G | CA414909386 | F8 | c.2011T>C (p.Phe671Leu) c.*1779+6092T>C (n.*1779+6092T>C) c.1906T>C (p.Phe636Leu) | |
X | g.154947800A>T | CA414909388 | F8 | c.2011T>A (p.Phe671Ile) c.*1779+6092T>A (n.*1779+6092T>A) c.1906T>A (p.Phe636Ile) | |
X | g.154947801G>A | CA519356618 | F8 | c.2010C>T (p.Val670=) c.*1779+6091C>T (n.*1779+6091C>T) c.1905C>T (p.Val635=) | |
X | g.154947801G>C | CA519356616 | F8 | c.2010C>G (p.Val670=) c.*1779+6091C>G (n.*1779+6091C>G) c.1905C>G (p.Val635=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154947801G= | CA2466842546 | F8 | c.2010C= (p.Val670=) c.*1779+6091C= (n.*1779+6091C=) c.1905C= (p.Val635=) | |
X | g.154947801G>T | CA519356614 | F8 | c.2010C>A (p.Val670=) c.*1779+6091C>A (n.*1779+6091C>A) c.1905C>A (p.Val635=) | |
X | g.154947802A>C | CA414909392 | F8 | c.2009T>G (p.Val670Gly) c.*1779+6090T>G (n.*1779+6090T>G) c.1904T>G (p.Val635Gly) | |
X | g.154947802A>G | CA414909393 | F8 | c.2009T>C (p.Val670Ala) c.*1779+6090T>C (n.*1779+6090T>C) c.1904T>C (p.Val635Ala) | |
X | g.154947802A>T | CA414909390 | F8 | c.2009T>A (p.Val670Asp) c.*1779+6090T>A (n.*1779+6090T>A) c.1904T>A (p.Val635Asp) | gnomAD v4 |
X | g.154947803C>A | CA414909395 | F8 | c.2008G>T (p.Val670Phe) c.*1779+6089G>T (n.*1779+6089G>T) c.1903G>T (p.Val635Phe) | |
X | g.154947803C>G | CA414909397 | F8 | c.2008G>C (p.Val670Leu) c.*1779+6089G>C (n.*1779+6089G>C) c.1903G>C (p.Val635Leu) | |
X | g.154947803C>T | CA414909398 | F8 | c.2008G>A (p.Val670Ile) c.*1779+6089G>A (n.*1779+6089G>A) c.1903G>A (p.Val635Ile) | |
X | g.154947804A= | CA2466842547 | F8 | c.2007T= (p.Ser669=) c.*1779+6088T= (n.*1779+6088T=) c.1902T= (p.Ser634=) | |
X | g.154947804A>C | CA10568369 | F8 | c.2007T>G (p.Ser669=) c.*1779+6088T>G (n.*1779+6088T>G) c.1902T>G (p.Ser634=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154947804A>G | CA10568370 | F8 | c.2007T>C (p.Ser669=) c.*1779+6088T>C (n.*1779+6088T>C) c.1902T>C (p.Ser634=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154947804A>T | CA519356630 | F8 | c.2007T>A (p.Ser669=) c.*1779+6088T>A (n.*1779+6088T>A) c.1902T>A (p.Ser634=) | COSMIC COSMIC |
X | g.154947805_154947806del | CA2695237210 | F8 | c.2006_2007del (p.Ser669CysfsTer15) c.*1779+6087_*1779+6088del (n.*1779+6087_*1779+6088del) c.1901_1902del (p.Ser634CysfsTer15) | |
X | g.154947806_154947809del | CA2695237211 | F8 | c.2004_2007del (p.Val670SerfsTer?) c.*1779+6085_*1779+6088del (n.*1779+6085_*1779+6088del) c.1899_1902del (p.Val635SerfsTer?) | |
X | g.154947805G>A | CA414909404 | F8 | c.2006C>T (p.Ser669Phe) c.*1779+6087C>T (n.*1779+6087C>T) c.1901C>T (p.Ser634Phe) | ClinVar dbSNP |
X | g.154947805G>C | CA414909401 | F8 | c.2006C>G (p.Ser669Cys) c.*1779+6087C>G (n.*1779+6087C>G) c.1901C>G (p.Ser634Cys) | |
X | g.154947805G= | CA2466842548 | F8 | c.2006C= (p.Ser669=) c.*1779+6087C= (n.*1779+6087C=) c.1901C= (p.Ser634=) | |
X | g.154947805G>T | CA414909402 | F8 | c.2006C>A (p.Ser669Tyr) c.*1779+6087C>A (n.*1779+6087C>A) c.1901C>A (p.Ser634Tyr) | |
X | g.154947806A= | CA2466842549 | F8 | c.2005T= (p.Ser669=) c.*1779+6086T= (n.*1779+6086T=) c.1900T= (p.Ser634=) | |
X | g.154947806A>C | CA414909405 | F8 | c.2005T>G (p.Ser669Ala) c.*1779+6086T>G (n.*1779+6086T>G) c.1900T>G (p.Ser634Ala) | |
X | g.154947806A>G | CA414909407 | F8 | c.2005T>C (p.Ser669Pro) c.*1779+6086T>C (n.*1779+6086T>C) c.1900T>C (p.Ser634Pro) | dbSNP |
X | g.154947806A>T | CA414909408 | F8 | c.2005T>A (p.Ser669Thr) c.*1779+6086T>A (n.*1779+6086T>A) c.1900T>A (p.Ser634Thr) | |
X | g.154947807A>C | CA519356638 | F8 | c.2004T>G (p.Leu668=) c.*1779+6085T>G (n.*1779+6085T>G) c.1899T>G (p.Leu633=) | |
X | g.154947807A>G | CA519356639 | F8 | c.2004T>C (p.Leu668=) c.*1779+6085T>C (n.*1779+6085T>C) c.1899T>C (p.Leu633=) | |
X | g.154947807A>T | CA519356642 | F8 | c.2004T>A (p.Leu668=) c.*1779+6085T>A (n.*1779+6085T>A) c.1899T>A (p.Leu633=) | |
X | g.154947808A>C | CA414909410 | F8 | c.2003T>G (p.Leu668Arg) c.*1779+6084T>G (n.*1779+6084T>G) c.1898T>G (p.Leu633Arg) | |
X | g.154947808A>G | CA414909412 | F8 | c.2003T>C (p.Leu668Pro) c.*1779+6084T>C (n.*1779+6084T>C) c.1898T>C (p.Leu633Pro) | |
X | g.154947808A>T | CA414909413 | F8 | c.2003T>A (p.Leu668His) c.*1779+6084T>A (n.*1779+6084T>A) c.1898T>A (p.Leu633His) | |
X | g.154947809G>A | CA414909417 | F8 | c.2002C>T (p.Leu668Phe) c.*1779+6083C>T (n.*1779+6083C>T) c.1897C>T (p.Leu633Phe) | |
X | g.154947809G>C | CA414909418 | F8 | c.2002C>G (p.Leu668Val) c.*1779+6083C>G (n.*1779+6083C>G) c.1897C>G (p.Leu633Val) | |
X | g.154947809G>T | CA414909415 | F8 | c.2002C>A (p.Leu668Ile) c.*1779+6083C>A (n.*1779+6083C>A) c.1897C>A (p.Leu633Ile) | |
X | g.154947810del | CA2695237212 | F8 | c.2002del (p.Leu668PhefsTer?) c.*1779+6083del (n.*1779+6083del) c.1897del (p.Leu633PhefsTer?) | |
X | g.154947810G>A | CA519356649 | F8 | c.2001C>T (p.Phe667=) c.*1779+6082C>T (n.*1779+6082C>T) c.1896C>T (p.Phe632=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154947810G>C | CA414909420 | F8 | c.2001C>G (p.Phe667Leu) c.*1779+6082C>G (n.*1779+6082C>G) c.1896C>G (p.Phe632Leu) | |
X | g.154947810G= | CA2466842550 | F8 | c.2001C= (p.Phe667=) c.*1779+6082C= (n.*1779+6082C=) c.1896C= (p.Phe632=) | |
X | g.154947810G>T | CA414909422 | F8 | c.2001C>A (p.Phe667Leu) c.*1779+6082C>A (n.*1779+6082C>A) c.1896C>A (p.Phe632Leu) | |
X | g.154947811A= | CA2466842551 | F8 | c.2000T= (p.Phe667=) c.*1779+6081T= (n.*1779+6081T=) c.1895T= (p.Phe632=) | |
X | g.154947811A>C | CA414909423 | F8 | c.2000T>G (p.Phe667Cys) c.*1779+6081T>G (n.*1779+6081T>G) c.1895T>G (p.Phe632Cys) | |
X | g.154947811A>G | CA414909426 | F8 | c.2000T>C (p.Phe667Ser) c.*1779+6081T>C (n.*1779+6081T>C) c.1895T>C (p.Phe632Ser) | |
X | g.154947811A>T | CA414909424 | F8 | c.2000T>A (p.Phe667Tyr) c.*1779+6081T>A (n.*1779+6081T>A) c.1895T>A (p.Phe632Tyr) | |
X | g.154947812del | CA2695237213 | F8 | c.2000del (p.Phe667SerfsTer?) c.*1779+6081del (n.*1779+6081del) c.1895del (p.Phe632SerfsTer?) | |
X | g.154947812A= | CA2466842553 | F8 | c.1999T= (p.Phe667=) c.*1779+6080T= (n.*1779+6080T=) c.1894T= (p.Phe632=) | |
X | g.154947812A>C | CA414909427 | F8 | c.1999T>G (p.Phe667Val) c.*1779+6080T>G (n.*1779+6080T>G) c.1894T>G (p.Phe632Val) | |
X | g.154947812A>G | CA414909431 | F8 | c.1999T>C (p.Phe667Leu) c.*1779+6080T>C (n.*1779+6080T>C) c.1894T>C (p.Phe632Leu) | dbSNP |
X | g.154947812A>T | CA414909429 | F8 | c.1999T>A (p.Phe667Ile) c.*1779+6080T>A (n.*1779+6080T>A) c.1894T>A (p.Phe632Ile) | |
X | g.154947816_154947819dup | CA2466842552 | F8 | c.1996_1999dup (p.Phe667Ter) c.*1779+6077_*1779+6080dup (n.*1779+6077_*1779+6080dup) c.1891_1894dup (p.Phe632Ter) | dbSNP |
X | g.154947816_154947819del | CA2695237214 | F8 | c.1996_1999del (p.Asp666SerfsTer?) c.*1779+6077_*1779+6080del (n.*1779+6077_*1779+6080del) c.1891_1894del (p.Asp631SerfsTer?) | |
X | g.154947813G>A | CA10568371 | F8 | c.1998C>T (p.Asp666=) c.*1779+6079C>T (n.*1779+6079C>T) c.1893C>T (p.Asp631=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154947813G>C | CA414909432 | F8 | c.1998C>G (p.Asp666Glu) c.*1779+6079C>G (n.*1779+6079C>G) c.1893C>G (p.Asp631Glu) | |
X | g.154947813G= | CA2466842554 | F8 | c.1998C= (p.Asp666=) c.*1779+6079C= (n.*1779+6079C=) c.1893C= (p.Asp631=) | |
X | g.154947813G>T | CA414909435 | F8 | c.1998C>A (p.Asp666Glu) c.*1779+6079C>A (n.*1779+6079C>A) c.1893C>A (p.Asp631Glu) | |
X | g.154947814T>A | CA414909437 | F8 | c.1997A>T (p.Asp666Val) c.*1779+6078A>T (n.*1779+6078A>T) c.1892A>T (p.Asp631Val) | |
X | g.154947814T>C | CA414909438 | F8 | c.1997A>G (p.Asp666Gly) c.*1779+6078A>G (n.*1779+6078A>G) c.1892A>G (p.Asp631Gly) | |
X | g.154947814T>G | CA414909439 | F8 | c.1997A>C (p.Asp666Ala) c.*1779+6078A>C (n.*1779+6078A>C) c.1892A>C (p.Asp631Ala) | gnomAD v4 |
X | g.154947815C>A | CA414909441 | F8 | c.1996G>T (p.Asp666Tyr) c.*1779+6077G>T (n.*1779+6077G>T) c.1891G>T (p.Asp631Tyr) | |
X | g.154947815C>G | CA414909443 | F8 | c.1996G>C (p.Asp666His) c.*1779+6077G>C (n.*1779+6077G>C) c.1891G>C (p.Asp631His) | |
X | g.154947815C>T | CA414909445 | F8 | c.1996G>A (p.Asp666Asn) c.*1779+6077G>A (n.*1779+6077G>A) c.1891G>A (p.Asp631Asn) | |
X | g.154947816A>C | CA519356670 | F8 | c.1995T>G (p.Thr665=) c.*1779+6076T>G (n.*1779+6076T>G) c.1890T>G (p.Thr630=) | |
X | g.154947816A>G | CA519356672 | F8 | c.1995T>C (p.Thr665=) c.*1779+6076T>C (n.*1779+6076T>C) c.1890T>C (p.Thr630=) | |
X | g.154947816A>T | CA519356674 | F8 | c.1995T>A (p.Thr665=) c.*1779+6076T>A (n.*1779+6076T>A) c.1890T>A (p.Thr630=) | |
X | g.154947817G>A | CA414909446 | F8 | c.1994C>T (p.Thr665Ile) c.*1779+6075C>T (n.*1779+6075C>T) c.1889C>T (p.Thr630Ile) | |
X | g.154947817G>C | CA414909447 | F8 | c.1994C>G (p.Thr665Ser) c.*1779+6075C>G (n.*1779+6075C>G) c.1889C>G (p.Thr630Ser) | |
X | g.154947817G>T | CA414909449 | F8 | c.1994C>A (p.Thr665Asn) c.*1779+6075C>A (n.*1779+6075C>A) c.1889C>A (p.Thr630Asn) | |
X | g.154947819_154947822dup | CA2695237215 | F8 | c.1991_1994dup (p.Phe667Ter) c.*1779+6072_*1779+6075dup (n.*1779+6072_*1779+6075dup) c.1886_1889dup (p.Phe632Ter) | |
X | g.154947818T>A | CA414909454 | F8 | c.1993A>T (p.Thr665Ser) c.*1779+6074A>T (n.*1779+6074A>T) c.1888A>T (p.Thr630Ser) | |
X | g.154947818T>C | CA414909451 | F8 | c.1993A>G (p.Thr665Ala) c.*1779+6074A>G (n.*1779+6074A>G) c.1888A>G (p.Thr630Ala) | |
X | g.154947818T>G | CA414909453 | F8 | c.1993A>C (p.Thr665Pro) c.*1779+6074A>C (n.*1779+6074A>C) c.1888A>C (p.Thr630Pro) | |
X | g.154947819C>A | CA414909456 | F8 | c.1992G>T (p.Gln664His) c.*1779+6073G>T (n.*1779+6073G>T) c.1887G>T (p.Gln629His) | |
X | g.154947819C= | CA2466842555 | F8 | c.1992G= (p.Gln664=) c.*1779+6073G= (n.*1779+6073G=) c.1887G= (p.Gln629=) | |
X | g.154947819C>G | CA414909458 | F8 | c.1992G>C (p.Gln664His) c.*1779+6073G>C (n.*1779+6073G>C) c.1887G>C (p.Gln629His) | |
X | g.154947819C>T | CA519356681 | F8 | c.1992G>A (p.Gln664=) c.*1779+6073G>A (n.*1779+6073G>A) c.1887G>A (p.Gln629=) | dbSNP |
X | g.154947820T>A | CA414909460 | F8 | c.1991A>T (p.Gln664Leu) c.*1779+6072A>T (n.*1779+6072A>T) c.1886A>T (p.Gln629Leu) | |
X | g.154947820T>C | CA414909461 | F8 | c.1991A>G (p.Gln664Arg) c.*1779+6072A>G (n.*1779+6072A>G) c.1886A>G (p.Gln629Arg) | |
X | g.154947820T>G | CA414909462 | F8 | c.1991A>C (p.Gln664Pro) c.*1779+6072A>C (n.*1779+6072A>C) c.1886A>C (p.Gln629Pro) | |
X | g.154947822_154947823del | CA2695237216 | F8 | c.1990_1991del (p.Gln664AspfsTer2) c.*1779+6071_*1779+6072del (n.*1779+6071_*1779+6072del) c.1885_1886del (p.Gln629AspfsTer2) | |
X | g.154947821G>A | CA414909465 | F8 | c.1990C>T (p.Gln664Ter) c.*1779+6071C>T (n.*1779+6071C>T) c.1885C>T (p.Gln629Ter) | |
X | g.154947821G>C | CA414909467 | F8 | c.1990C>G (p.Gln664Glu) c.*1779+6071C>G (n.*1779+6071C>G) c.1885C>G (p.Gln629Glu) | |
X | g.154947821G>T | CA414909468 | F8 | c.1990C>A (p.Gln664Lys) c.*1779+6071C>A (n.*1779+6071C>A) c.1885C>A (p.Gln629Lys) | |
X | g.154947822T>A | CA519356682 | F8 | c.1989A>T (p.Ala663=) c.*1779+6070A>T (n.*1779+6070A>T) c.1884A>T (p.Ala628=) | |
X | g.154947822T>C | CA519356685 | F8 | c.1989A>G (p.Ala663=) c.*1779+6070A>G (n.*1779+6070A>G) c.1884A>G (p.Ala628=) | |
X | g.154947822T>G | CA519356683 | F8 | c.1989A>C (p.Ala663=) c.*1779+6070A>C (n.*1779+6070A>C) c.1884A>C (p.Ala628=) | |
X | g.154947823G>A | CA255135 | F8 | c.1988C>T (p.Ala663Val) c.*1779+6069C>T (n.*1779+6069C>T) c.1883C>T (p.Ala628Val) | ClinVar dbSNP gnomAD v4 |
X | g.154947823G>C | CA414909469 | F8 | c.1988C>G (p.Ala663Gly) c.*1779+6069C>G (n.*1779+6069C>G) c.1883C>G (p.Ala628Gly) | |
X | g.154947823G= | CA2466842556 | F8 | c.1988C= (p.Ala663=) c.*1779+6069C= (n.*1779+6069C=) c.1883C= (p.Ala628=) | |
X | g.154947823G>T | CA414909470 | F8 | c.1988C>A (p.Ala663Glu) c.*1779+6069C>A (n.*1779+6069C>A) c.1883C>A (p.Ala628Glu) | |
X | g.154947824C>A | CA414909471 | F8 | c.1987G>T (p.Ala663Ser) c.*1779+6068G>T (n.*1779+6068G>T) c.1882G>T (p.Ala628Ser) | COSMIC COSMIC |
X | g.154947824C>G | CA414909473 | F8 | c.1987G>C (p.Ala663Pro) c.*1779+6068G>C (n.*1779+6068G>C) c.1882G>C (p.Ala628Pro) | |
X | g.154947824C>T | CA414909472 | F8 | c.1987G>A (p.Ala663Thr) c.*1779+6068G>A (n.*1779+6068G>A) c.1882G>A (p.Ala628Thr) | |
X | g.154947825T>A | CA519356692 | F8 | c.1986A>T (p.Gly662=) c.*1779+6067A>T (n.*1779+6067A>T) c.1881A>T (p.Gly627=) | |
X | g.154947825T>C | CA519356694 | F8 | c.1986A>G (p.Gly662=) c.*1779+6067A>G (n.*1779+6067A>G) c.1881A>G (p.Gly627=) | |
X | g.154947825T>G | CA519356696 | F8 | c.1986A>C (p.Gly662=) c.*1779+6067A>C (n.*1779+6067A>C) c.1881A>C (p.Gly627=) | |
X | g.154947826C>A | CA414909474 | F8 | c.1985G>T (p.Gly662Val) c.*1779+6066G>T (n.*1779+6066G>T) c.1880G>T (p.Gly627Val) | |
X | g.154947826C>G | CA414909475 | F8 | c.1985G>C (p.Gly662Ala) c.*1779+6066G>C (n.*1779+6066G>C) c.1880G>C (p.Gly627Ala) | COSMIC COSMIC |
X | g.154947826C>T | CA414909476 | F8 | c.1985G>A (p.Gly662Glu) c.*1779+6066G>A (n.*1779+6066G>A) c.1880G>A (p.Gly627Glu) | |
X | g.154947827C>A | CA414909477 | F8 | c.1984G>T (p.Gly662Ter) c.*1779+6065G>T (n.*1779+6065G>T) c.1879G>T (p.Gly627Ter) | |
X | g.154947827C>G | CA414909478 | F8 | c.1984G>C (p.Gly662Arg) c.*1779+6065G>C (n.*1779+6065G>C) c.1879G>C (p.Gly627Arg) | |
X | g.154947827C>T | CA414909479 | F8 | c.1984G>A (p.Gly662Arg) c.*1779+6065G>A (n.*1779+6065G>A) c.1879G>A (p.Gly627Arg) |