| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.104703328G>A | CA391213227 | INF2 | c.541G>A (p.Val181Ile) c.425G>A (p.Cys142Tyr) c.530G>A (p.Cys177Tyr) n.743G>A c.637G>A (p.Val213Ile) n.766G>A n.742G>A | |
| 14 | g.104703328G>C | CA391213226 | INF2 | c.541G>C (p.Val181Leu) c.425G>C (p.Cys142Ser) c.530G>C (p.Cys177Ser) n.743G>C c.637G>C (p.Val213Leu) n.766G>C n.742G>C | |
| 14 | g.104703328G>T | CA391213225 | INF2 | c.541G>T (p.Val181Phe) c.425G>T (p.Cys142Phe) c.530G>T (p.Cys177Phe) n.743G>T c.637G>T (p.Val213Phe) n.766G>T n.742G>T | |
| 14 | g.104703329T>A | CA391213228 | INF2 | c.542T>A (p.Val181Asp) c.426T>A (p.Cys142Ter) c.531T>A (p.Cys177Ter) n.744T>A c.638T>A (p.Val213Asp) n.767T>A n.743T>A | |
| 14 | g.104703329T>C | CA391213229 | INF2 | c.542T>C (p.Val181Ala) c.426T>C (p.Cys142=) c.531T>C (p.Cys177=) n.744T>C c.638T>C (p.Val213Ala) n.767T>C n.743T>C | |
| 14 | g.104703329T>G | CA391213230 | INF2 | c.542T>G (p.Val181Gly) c.426T>G (p.Cys142Trp) c.531T>G (p.Cys177Trp) n.744T>G c.638T>G (p.Val213Gly) n.767T>G n.743T>G | ClinVar dbSNP |
| 14 | g.104703330C>A | CA488715417 | INF2 | c.543C>A (p.Val181=) c.427C>A (p.His143Asn) c.532C>A (p.His178Asn) n.745C>A c.639C>A (p.Val213=) n.768C>A n.744C>A | |
| 14 | g.104703330C>G | CA488715418 | INF2 | c.543C>G (p.Val181=) c.427C>G (p.His143Asp) c.532C>G (p.His178Asp) n.745C>G c.639C>G (p.Val213=) n.768C>G n.744C>G | |
| 14 | g.104703330C>T | CA488715419 | INF2 | c.543C>T (p.Val181=) c.427C>T (p.His143Tyr) c.532C>T (p.His178Tyr) n.745C>T c.639C>T (p.Val213=) n.768C>T n.744C>T | gnomAD v4 |
| 14 | g.104703331A>C | CA391213231 | INF2 | c.544A>C (p.Met182Leu) c.428A>C (p.His143Pro) c.533A>C (p.His178Pro) n.746A>C c.640A>C (p.Met214Leu) n.769A>C n.745A>C | |
| 14 | g.104703331A>G | CA391213232 | INF2 | c.544A>G (p.Met182Val) c.428A>G (p.His143Arg) c.533A>G (p.His178Arg) n.746A>G c.640A>G (p.Met214Val) n.769A>G n.745A>G | gnomAD v4 |
| 14 | g.104703331A>T | CA391213233 | INF2 | c.544A>T (p.Met182Leu) c.428A>T (p.His143Leu) c.533A>T (p.His178Leu) n.746A>T c.640A>T (p.Met214Leu) n.769A>T n.745A>T | |
| 14 | g.104703332T>A | CA391213234 | INF2 | c.545T>A (p.Met182Lys) c.429T>A (p.His143Gln) c.534T>A (p.His178Gln) n.747T>A c.641T>A (p.Met214Lys) n.770T>A n.746T>A | |
| 14 | g.104703332T>C | CA391213235 | INF2 | c.545T>C (p.Met182Thr) c.429T>C (p.His143=) c.534T>C (p.His178=) n.747T>C c.641T>C (p.Met214Thr) n.770T>C n.746T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.104703332T>G | CA391213236 | INF2 | c.545T>G (p.Met182Arg) c.429T>G (p.His143Gln) c.534T>G (p.His178Gln) n.747T>G c.641T>G (p.Met214Arg) n.770T>G n.746T>G | |
| 14 | g.104703332T= | CA2160925618 | INF2 | c.545T= (p.Met182=) c.429T= (p.His143=) c.534T= (p.His178=) n.747T= c.641T= (p.Met214=) n.770T= n.746T= | |
| 14 | g.104703333G>A | CA391213237 | INF2 | c.546G>A (p.Met182Ile) c.430G>A (p.Glu144Lys) c.535G>A (p.Glu179Lys) n.748G>A c.642G>A (p.Met214Ile) n.771G>A n.747G>A | |
| 14 | g.104703333G>C | CA391213238 | INF2 | c.546G>C (p.Met182Ile) c.430G>C (p.Glu144Gln) c.535G>C (p.Glu179Gln) n.748G>C c.642G>C (p.Met214Ile) n.771G>C n.747G>C | |
| 14 | g.104703333G>T | CA391213239 | INF2 | c.546G>T (p.Met182Ile) c.430G>T (p.Glu144Ter) c.535G>T (p.Glu179Ter) n.748G>T c.642G>T (p.Met214Ile) n.771G>T n.747G>T | |
| 14 | g.104703334A= | CA2160925619 | INF2 | c.547A= (p.Asn183=) c.431A= (p.Glu144=) c.536A= (p.Glu179=) n.749A= c.643A= (p.Asn215=) n.772A= n.748A= | |
| 14 | g.104703334A>C | CA391213240 | INF2 | c.547A>C (p.Asn183His) c.431A>C (p.Glu144Ala) c.536A>C (p.Glu179Ala) n.749A>C c.643A>C (p.Asn215His) n.772A>C n.748A>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.104703334A>G | CA391213242 | INF2 | c.547A>G (p.Asn183Asp) c.431A>G (p.Glu144Gly) c.536A>G (p.Glu179Gly) n.749A>G c.643A>G (p.Asn215Asp) n.772A>G n.748A>G | |
| 14 | g.104703334A>T | CA391213241 | INF2 | c.547A>T (p.Asn183Tyr) c.431A>T (p.Glu144Val) c.536A>T (p.Glu179Val) n.749A>T c.643A>T (p.Asn215Tyr) n.772A>T n.748A>T | |
| 14 | g.104703335A= | CA2160925620 | INF2 | c.548A= (p.Asn183=) c.432A= (p.Glu144=) c.537A= (p.Glu179=) n.750A= c.644A= (p.Asn215=) n.773A= n.749A= | |
| 14 | g.104703335A>C | CA391213243 | INF2 | c.548A>C (p.Asn183Thr) c.432A>C (p.Glu144Asp) c.537A>C (p.Glu179Asp) n.750A>C c.644A>C (p.Asn215Thr) n.773A>C n.749A>C | |
| 14 | g.104703335A>G | CA7372327 | INF2 | c.548A>G (p.Asn183Ser) c.432A>G (p.Glu144=) c.537A>G (p.Glu179=) n.750A>G c.644A>G (p.Asn215Ser) n.773A>G n.749A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.104703335A>T | CA391213244 | INF2 | c.548A>T (p.Asn183Ile) c.432A>T (p.Glu144Asp) c.537A>T (p.Glu179Asp) n.750A>T c.644A>T (p.Asn215Ile) n.773A>T n.749A>T | |
| 14 | g.104703336C>A | CA391213245 | INF2 | c.549C>A (p.Asn183Lys) c.433C>A (p.Arg145=) c.538C>A (p.Arg180=) n.751C>A c.645C>A (p.Asn215Lys) n.774C>A n.750C>A | |
| 14 | g.104703336C= | CA2160925621 | INF2 | c.549C= (p.Asn183=) c.433C= (p.Arg145=) c.538C= (p.Arg180=) n.751C= c.645C= (p.Asn215=) n.774C= n.750C= | |
| 14 | g.104703336C>G | CA391213246 | INF2 | c.549C>G (p.Asn183Lys) c.433C>G (p.Arg145Gly) c.538C>G (p.Arg180Gly) n.751C>G c.645C>G (p.Asn215Lys) n.774C>G n.750C>G | |
| 14 | g.104703336C>T | CA488715428 | INF2 | c.549C>T (p.Asn183=) c.433C>T (p.Arg145Ter) c.538C>T (p.Arg180Ter) n.751C>T c.645C>T (p.Asn215=) n.774C>T n.750C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.104703337G>A | CA391213247 | INF2 | c.550G>A (p.Glu184Lys) c.434G>A (p.Arg145Gln) c.539G>A (p.Arg180Gln) n.752G>A c.646G>A (p.Glu216Lys) n.775G>A n.751G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.104703337G>C | CA391213249 | INF2 | c.550G>C (p.Glu184Gln) c.434G>C (p.Arg145Pro) c.539G>C (p.Arg180Pro) n.752G>C c.646G>C (p.Glu216Gln) n.775G>C n.751G>C | |
| 14 | g.104703337G= | CA2160925622 | INF2 | c.550G= (p.Glu184=) c.434G= (p.Arg145=) c.539G= (p.Arg180=) n.752G= c.646G= (p.Glu216=) n.775G= n.751G= | |
| 14 | g.104703337G>T | CA391213248 | INF2 | c.550G>T (p.Glu184Ter) c.434G>T (p.Arg145Leu) c.539G>T (p.Arg180Leu) n.752G>T c.646G>T (p.Glu216Ter) n.775G>T n.751G>T | |
| 14 | g.104703338A>C | CA391213250 | INF2 | c.551A>C (p.Glu184Ala) c.435A>C (p.Arg145=) c.540A>C (p.Arg180=) n.753A>C c.647A>C (p.Glu216Ala) n.776A>C n.752A>C | |
| 14 | g.104703338A>G | CA391213252 | INF2 | c.551A>G (p.Glu184Gly) c.435A>G (p.Arg145=) c.540A>G (p.Arg180=) n.753A>G c.647A>G (p.Glu216Gly) n.776A>G n.752A>G | |
| 14 | g.104703338A>T | CA391213251 | INF2 | c.551A>T (p.Glu184Val) c.435A>T (p.Arg145=) c.540A>T (p.Arg180=) n.753A>T c.647A>T (p.Glu216Val) n.776A>T n.752A>T | |
| 14 | g.104703339G>A | CA488715435 | INF2 | c.552G>A (p.Glu184=) c.436G>A (p.Ala146Thr) c.541G>A (p.Ala181Thr) n.754G>A c.648G>A (p.Glu216=) n.777G>A n.753G>A | |
| 14 | g.104703339G>C | CA391213253 | INF2 | c.552G>C (p.Glu184Asp) c.436G>C (p.Ala146Pro) c.541G>C (p.Ala181Pro) n.754G>C c.648G>C (p.Glu216Asp) n.777G>C n.753G>C | |
| 14 | g.104703339G>T | CA391213254 | INF2 | c.552G>T (p.Glu184Asp) c.436G>T (p.Ala146Ser) c.541G>T (p.Ala181Ser) n.754G>T c.648G>T (p.Glu216Asp) n.777G>T n.753G>T | |
| 14 | g.104703340C>A | CA391213255 | INF2 | c.553C>A (p.Leu185Ile) c.437C>A (p.Ala146Asp) c.542C>A (p.Ala181Asp) n.755C>A c.649C>A (p.Leu217Ile) n.778C>A n.754C>A | |
| 14 | g.104703340C>G | CA391213256 | INF2 | c.553C>G (p.Leu185Val) c.437C>G (p.Ala146Gly) c.542C>G (p.Ala181Gly) n.755C>G c.649C>G (p.Leu217Val) n.778C>G n.754C>G | |
| 14 | g.104703340C>T | CA391213257 | INF2 | c.553C>T (p.Leu185Phe) c.437C>T (p.Ala146Val) c.542C>T (p.Ala181Val) n.755C>T c.649C>T (p.Leu217Phe) n.778C>T n.754C>T | |
| 14 | g.104703341T>A | CA391213258 | INF2 | c.554T>A (p.Leu185His) c.438T>A (p.Ala146=) c.543T>A (p.Ala181=) n.756T>A c.650T>A (p.Leu217His) n.779T>A n.755T>A | |
| 14 | g.104703341T>C | CA391213259 | INF2 | c.554T>C (p.Leu185Pro) c.438T>C (p.Ala146=) c.543T>C (p.Ala181=) n.756T>C c.650T>C (p.Leu217Pro) n.779T>C n.755T>C | ClinVar dbSNP |
| 14 | g.104703341T>G | CA391213260 | INF2 | c.554T>G (p.Leu185Arg) c.438T>G (p.Ala146=) c.543T>G (p.Ala181=) n.756T>G c.650T>G (p.Leu217Arg) n.779T>G n.755T>G | |
| 14 | g.104703341T= | CA2160925623 | INF2 | c.554T= (p.Leu185=) c.438T= (p.Ala146=) c.543T= (p.Ala181=) n.756T= c.650T= (p.Leu217=) n.779T= n.755T= | |
| 14 | g.104703342C>A | CA488715439 | INF2 | c.555C>A (p.Leu185=) c.439C>A (p.Leu147Ile) c.544C>A (p.Leu182Ile) n.757C>A c.651C>A (p.Leu217=) n.780C>A n.756C>A | |
| 14 | g.104703342C= | CA2160925624 | INF2 | c.555C= (p.Leu185=) c.439C= (p.Leu147=) c.544C= (p.Leu182=) n.757C= c.651C= (p.Leu217=) n.780C= n.756C= |