Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.58078777C>A | CA353333890 | FLNB | c.602C>A (p.Ala201Asp) n.745C>A n.761C>A c.95C>A (p.Ala32Asp) n.747C>A | |
3 | g.58078777C= | CA1367486679 | FLNB | c.602C= (p.Ala201=) n.745C= n.761C= c.95C= (p.Ala32=) n.747C= | |
3 | g.58078777C>G | CA353333891 | FLNB | c.602C>G (p.Ala201Gly) n.745C>G n.761C>G c.95C>G (p.Ala32Gly) n.747C>G | |
3 | g.58078777C>T | CA341860 | FLNB | c.602C>T (p.Ala201Val) n.745C>T n.761C>T c.95C>T (p.Ala32Val) n.747C>T | ClinVar dbSNP |
3 | g.58078778C>A | CA434021391 | FLNB | c.603C>A (p.Ala201=) n.746C>A n.762C>A c.96C>A (p.Ala32=) n.748C>A | |
3 | g.58078778C>G | CA434021394 | FLNB | c.603C>G (p.Ala201=) n.746C>G n.762C>G c.96C>G (p.Ala32=) n.748C>G | |
3 | g.58078778C>T | CA434021397 | FLNB | c.603C>T (p.Ala201=) n.746C>T n.762C>T c.96C>T (p.Ala32=) n.748C>T | |
3 | g.58078780_58078783dup | CA543241552 | FLNB | c.605_608dup (p.Gln203HisfsTer6) n.748_751dup n.764_767dup c.98_101dup (p.Gln34HisfsTer6) n.750_753dup | dbSNP gnomAD v2 |
3 | g.58078779A= | CA1367486680 | FLNB | c.604A= (p.Met202=) n.747A= n.763A= c.97A= (p.Met33=) n.749A= | |
3 | g.58078779A>C | CA353333893 | FLNB | c.604A>C (p.Met202Leu) n.747A>C n.763A>C c.97A>C (p.Met33Leu) n.749A>C | gnomAD v4 |
3 | g.58078779A>G | CA253857 | FLNB | c.604A>G (p.Met202Val) n.747A>G n.763A>G c.97A>G (p.Met33Val) n.749A>G | ClinVar dbSNP |
3 | g.58078779A>T | CA353333892 | FLNB | c.604A>T (p.Met202Leu) n.747A>T n.763A>T c.97A>T (p.Met33Leu) n.749A>T | |
3 | g.58078780T>A | CA353333894 | FLNB | c.605T>A (p.Met202Lys) n.748T>A n.764T>A c.98T>A (p.Met33Lys) n.750T>A | |
3 | g.58078780T>C | CA353333895 | FLNB | c.605T>C (p.Met202Thr) n.748T>C n.764T>C c.98T>C (p.Met33Thr) n.750T>C | ClinVar dbSNP |
3 | g.58078780T>G | CA353333896 | FLNB | c.605T>G (p.Met202Arg) n.748T>G n.764T>G c.98T>G (p.Met33Arg) n.750T>G | |
3 | g.58078781G>A | CA353333897 | FLNB | c.606G>A (p.Met202Ile) n.749G>A n.765G>A c.99G>A (p.Met33Ile) n.751G>A | |
3 | g.58078781G>C | CA353333898 | FLNB | c.606G>C (p.Met202Ile) n.749G>C n.765G>C c.99G>C (p.Met33Ile) n.751G>C | |
3 | g.58078781G>T | CA353333899 | FLNB | c.606G>T (p.Met202Ile) n.749G>T n.765G>T c.99G>T (p.Met33Ile) n.751G>T | |
3 | g.58078782C>A | CA353333900 | FLNB | c.607C>A (p.Gln203Lys) n.750C>A n.766C>A c.100C>A (p.Gln34Lys) n.752C>A | |
3 | g.58078782C>G | CA353333901 | FLNB | c.607C>G (p.Gln203Glu) n.750C>G n.766C>G c.100C>G (p.Gln34Glu) n.752C>G | |
3 | g.58078782C>T | CA353333902 | FLNB | c.607C>T (p.Gln203Ter) n.750C>T n.766C>T c.100C>T (p.Gln34Ter) n.752C>T | |
3 | g.58078783A= | CA1367486681 | FLNB | c.608A= (p.Gln203=) n.751A= n.767A= c.101A= (p.Gln34=) n.753A= | |
3 | g.58078783A>C | CA341862 | FLNB | c.608A>C (p.Gln203Pro) n.751A>C n.767A>C c.101A>C (p.Gln34Pro) n.753A>C | ClinVar dbSNP |
3 | g.58078783A>G | CA353333903 | FLNB | c.608A>G (p.Gln203Arg) n.751A>G n.767A>G c.101A>G (p.Gln34Arg) n.753A>G | |
3 | g.58078783A>T | CA353333904 | FLNB | c.608A>T (p.Gln203Leu) n.751A>T n.767A>T c.101A>T (p.Gln34Leu) n.753A>T | |
3 | g.58078784G>A | CA434021434 | FLNB | c.609G>A (p.Gln203=) n.752G>A n.768G>A c.102G>A (p.Gln34=) n.754G>A | |
3 | g.58078784G>C | CA353333906 | FLNB | c.609G>C (p.Gln203His) n.752G>C n.768G>C c.102G>C (p.Gln34His) n.754G>C | |
3 | g.58078784G= | CA1367486682 | FLNB | c.609G= (p.Gln203=) n.752G= n.768G= c.102G= (p.Gln34=) n.754G= | |
3 | g.58078784G>T | CA353333905 | FLNB | c.609G>T (p.Gln203His) n.752G>T n.768G>T c.102G>T (p.Gln34His) n.754G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.58078785C>A | CA353333907 | FLNB | c.610C>A (p.Gln204Lys) n.753C>A n.769C>A c.103C>A (p.Gln35Lys) n.755C>A | |
3 | g.58078785C>G | CA353333909 | FLNB | c.610C>G (p.Gln204Glu) n.753C>G n.769C>G c.103C>G (p.Gln35Glu) n.755C>G | gnomAD v4 |
3 | g.58078785C>T | CA353333908 | FLNB | c.610C>T (p.Gln204Ter) n.753C>T n.769C>T c.103C>T (p.Gln35Ter) n.755C>T | |
3 | g.58078786A>C | CA353333910 | FLNB | c.611A>C (p.Gln204Pro) n.754A>C n.770A>C c.104A>C (p.Gln35Pro) n.756A>C | |
3 | g.58078786A>G | CA353333911 | FLNB | c.611A>G (p.Gln204Arg) n.754A>G n.770A>G c.104A>G (p.Gln35Arg) n.756A>G | |
3 | g.58078786A>T | CA353333912 | FLNB | c.611A>T (p.Gln204Leu) n.754A>T n.770A>T c.104A>T (p.Gln35Leu) n.756A>T | |
3 | g.58078787G>A | CA434021449 | FLNB | c.612G>A (p.Gln204=) n.755G>A n.771G>A c.105G>A (p.Gln35=) n.757G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58078787G>C | CA353333913 | FLNB | c.612G>C (p.Gln204His) n.755G>C n.771G>C c.105G>C (p.Gln35His) n.757G>C | |
3 | g.58078787G= | CA1367486683 | FLNB | c.612G= (p.Gln204=) n.755G= n.771G= c.105G= (p.Gln35=) n.757G= | |
3 | g.58078787G>T | CA353333914 | FLNB | c.612G>T (p.Gln204His) n.755G>T n.771G>T c.105G>T (p.Gln35His) n.757G>T | |
3 | g.58078788G>A | CA353333915 | FLNB | c.613G>A (p.Ala205Thr) n.756G>A n.772G>A c.106G>A (p.Ala36Thr) n.758G>A | |
3 | g.58078788G>C | CA353333916 | FLNB | c.613G>C (p.Ala205Pro) n.756G>C n.772G>C c.106G>C (p.Ala36Pro) n.758G>C | |
3 | g.58078788G>T | CA353333917 | FLNB | c.613G>T (p.Ala205Ser) n.756G>T n.772G>T c.106G>T (p.Ala36Ser) n.758G>T | ClinVar dbSNP |
3 | g.58078789C>A | CA353333918 | FLNB | c.614C>A (p.Ala205Glu) n.757C>A n.773C>A c.107C>A (p.Ala36Glu) n.759C>A | |
3 | g.58078789C>G | CA353333919 | FLNB | c.614C>G (p.Ala205Gly) n.757C>G n.773C>G c.107C>G (p.Ala36Gly) n.759C>G | |
3 | g.58078789C>T | CA353333920 | FLNB | c.614C>T (p.Ala205Val) n.757C>T n.773C>T c.107C>T (p.Ala36Val) n.759C>T | |
3 | g.58078790A= | CA1367486684 | FLNB | c.615A= (p.Ala205=) n.758A= n.774A= c.108A= (p.Ala36=) n.760A= | |
3 | g.58078790A>C | CA434021450 | FLNB | c.615A>C (p.Ala205=) n.758A>C n.774A>C c.108A>C (p.Ala36=) n.760A>C | dbSNP gnomAD v2 |
3 | g.58078790A>G | CA75428478 | FLNB | c.615A>G (p.Ala205=) n.758A>G n.774A>G c.108A>G (p.Ala36=) n.760A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.58078790A>T | CA434021451 | FLNB | c.615A>T (p.Ala205=) n.758A>T n.774A>T c.108A>T (p.Ala36=) n.760A>T | |
3 | g.58078791G>A | CA353333923 | FLNB | c.616G>A (p.Asp206Asn) n.759G>A n.775G>A c.109G>A (p.Asp37Asn) n.761G>A | COSMIC COSMIC COSMIC |