Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48503807G>A | CA046724 | FBN1 | c.2093C>T (p.Pro698Leu) n.767C>T c.637-29157C>T (n.637-29157C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.48503807G>C | CA392337985 | FBN1 | c.2093C>G (p.Pro698Arg) n.767C>G c.637-29157C>G (n.637-29157C>G) | |
15 | g.48503807G= | CA2175526428 | FBN1 | c.2093C= (p.Pro698=) n.767C= c.637-29157C= (n.637-29157C=) | |
15 | g.48503807G>T | CA392337987 | FBN1 | c.2093C>A (p.Pro698Gln) n.767C>A c.637-29157C>A (n.637-29157C>A) | |
15 | g.48503807_48503808insT | CA2573150770 | FBN1 | c.2092_2093insA (p.Pro698HisfsTer26) n.766_767insA c.637-29158_637-29157insA (n.637-29158_637-29157insA) | dbSNP |
15 | g.48503808G>A | CA392337991 | FBN1 | c.2092C>T (p.Pro698Ser) n.766C>T c.637-29158C>T (n.637-29158C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
15 | g.48503808G>C | CA392337993 | FBN1 | c.2092C>G (p.Pro698Ala) n.766C>G c.637-29158C>G (n.637-29158C>G) | |
15 | g.48503808G= | CA2175526436 | FBN1 | c.2092C= (p.Pro698=) n.766C= c.637-29158C= (n.637-29158C=) | |
15 | g.48503808G>T | CA392337996 | FBN1 | c.2092C>A (p.Pro698Thr) n.766C>A c.637-29158C>A (n.637-29158C>A) | |
15 | g.48503809C>A | CA392338002 | FBN1 | c.2091G>T (p.Gln697His) n.765G>T c.637-29159G>T (n.637-29159G>T) | ClinVar dbSNP |
15 | g.48503809C= | CA2175526441 | FBN1 | c.2091G= (p.Gln697=) n.765G= c.637-29159G= (n.637-29159G=) | |
15 | g.48503809C>G | CA392338015 | FBN1 | c.2091G>C (p.Gln697His) n.765G>C c.637-29159G>C (n.637-29159G>C) | |
15 | g.48503809C>T | CA490024166 | FBN1 | c.2091G>A (p.Gln697=) n.765G>A c.637-29159G>A (n.637-29159G>A) | |
15 | g.48503810T>A | CA392338019 | FBN1 | c.2090A>T (p.Gln697Leu) n.764A>T c.637-29160A>T (n.637-29160A>T) | |
15 | g.48503810T>C | CA046714 | FBN1 | c.2090A>G (p.Gln697Arg) n.764A>G c.637-29160A>G (n.637-29160A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48503810T>G | CA392338025 | FBN1 | c.2090A>C (p.Gln697Pro) n.764A>C c.637-29160A>C (n.637-29160A>C) | ClinVar dbSNP COSMIC |
15 | g.48503810T= | CA2175526446 | FBN1 | c.2090A= (p.Gln697=) n.764A= c.637-29160A= (n.637-29160A=) | |
15 | g.48503811G>A | CA16614443 | FBN1 | c.2089C>T (p.Gln697Ter) n.763C>T c.637-29161C>T (n.637-29161C>T) | ClinVar dbSNP |
15 | g.48503811G>C | CA392338035 | FBN1 | c.2089C>G (p.Gln697Glu) n.763C>G c.637-29161C>G (n.637-29161C>G) | |
15 | g.48503811G= | CA2175526454 | FBN1 | c.2089C= (p.Gln697=) n.763C= c.637-29161C= (n.637-29161C=) | |
15 | g.48503811G>T | CA392338028 | FBN1 | c.2089C>A (p.Gln697Lys) n.763C>A c.637-29161C>A (n.637-29161C>A) | |
15 | g.48503812G>A | CA490024167 | FBN1 | c.2088C>T (p.Cys696=) n.762C>T c.637-29162C>T (n.637-29162C>T) | |
15 | g.48503812G>C | CA392338040 | FBN1 | c.2088C>G (p.Cys696Trp) n.762C>G c.637-29162C>G (n.637-29162C>G) | |
15 | g.48503812G>T | CA392338041 | FBN1 | c.2088C>A (p.Cys696Ter) n.762C>A c.637-29162C>A (n.637-29162C>A) | ClinVar dbSNP |
15 | g.48503812_48503813delinsGC | CA2175526456 | FBN1 | c.2087_2088delinsGC (p.Cys696=) n.761_762delinsGC c.637-29163_637-29162delinsGC (n.637-29163_637-29162delinsGC) | |
15 | g.48503813del | CA1139663974 | FBN1 | c.2087del (p.Cys696SerfsTer22) n.761del c.637-29163del (n.637-29163del) | ClinVar dbSNP |
15 | g.48503813C>A | CA392338042 | FBN1 | c.2087G>T (p.Cys696Phe) n.761G>T c.637-29163G>T (n.637-29163G>T) | ClinVar dbSNP |
15 | g.48503813C= | CA2175526461 | FBN1 | c.2087G= (p.Cys696=) n.761G= c.637-29163G= (n.637-29163G=) | |
15 | g.48503813C>G | CA392338043 | FBN1 | c.2087G>C (p.Cys696Ser) n.761G>C c.637-29163G>C (n.637-29163G>C) | |
15 | g.48503813C>T | CA392338044 | FBN1 | c.2087G>A (p.Cys696Tyr) n.761G>A c.637-29163G>A (n.637-29163G>A) | |
15 | g.48503814A>C | CA392338047 | FBN1 | c.2086T>G (p.Cys696Gly) n.760T>G c.637-29164T>G (n.637-29164T>G) | ClinVar dbSNP |
15 | g.48503814A>G | CA392338049 | FBN1 | c.2086T>C (p.Cys696Arg) n.760T>C c.637-29164T>C (n.637-29164T>C) | |
15 | g.48503814A>T | CA392338051 | FBN1 | c.2086T>A (p.Cys696Ser) n.760T>A c.637-29164T>A (n.637-29164T>A) | |
15 | g.48503815A>C | CA490024168 | FBN1 | c.2085T>G (p.Pro695=) n.759T>G c.637-29165T>G (n.637-29165T>G) | |
15 | g.48503815A>G | CA490024169 | FBN1 | c.2085T>C (p.Pro695=) n.759T>C c.637-29165T>C (n.637-29165T>C) | ClinVar dbSNP gnomAD v4 |
15 | g.48503815A>T | CA490024170 | FBN1 | c.2085T>A (p.Pro695=) n.759T>A c.637-29165T>A (n.637-29165T>A) | |
15 | g.48503816G>A | CA392338055 | FBN1 | c.2084C>T (p.Pro695Leu) n.758C>T c.637-29166C>T (n.637-29166C>T) | |
15 | g.48503816G>C | CA392338056 | FBN1 | c.2084C>G (p.Pro695Arg) n.758C>G c.637-29166C>G (n.637-29166C>G) | dbSNP |
15 | g.48503816G= | CA2175526465 | FBN1 | c.2084C= (p.Pro695=) n.758C= c.637-29166C= (n.637-29166C=) | |
15 | g.48503816G>T | CA392338061 | FBN1 | c.2084C>A (p.Pro695His) n.758C>A c.637-29166C>A (n.637-29166C>A) | ClinVar dbSNP |
15 | g.48503817G>A | CA392338070 | FBN1 | c.2083C>T (p.Pro695Ser) n.757C>T c.637-29167C>T (n.637-29167C>T) | |
15 | g.48503817G>C | CA392338068 | FBN1 | c.2083C>G (p.Pro695Ala) n.757C>G c.637-29167C>G (n.637-29167C>G) | |
15 | g.48503817G>T | CA392338067 | FBN1 | c.2083C>A (p.Pro695Thr) n.757C>A c.637-29167C>A (n.637-29167C>A) | gnomAD v4 |
15 | g.48503818T>A | CA392338073 | FBN1 | c.2082A>T (p.Glu694Asp) n.756A>T c.637-29168A>T (n.637-29168A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48503818T>C | CA046705 | FBN1 | c.2082A>G (p.Glu694=) n.756A>G c.637-29168A>G (n.637-29168A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48503818T>G | CA392338076 | FBN1 | c.2082A>C (p.Glu694Asp) n.756A>C c.637-29168A>C (n.637-29168A>C) | dbSNP |
15 | g.48503818T= | CA2175526469 | FBN1 | c.2082A= (p.Glu694=) n.756A= c.637-29168A= (n.637-29168A=) | |
15 | g.48503819T>A | CA392338086 | FBN1 | c.2081A>T (p.Glu694Val) n.755A>T c.637-29169A>T (n.637-29169A>T) | |
15 | g.48503819T>C | CA392338089 | FBN1 | c.2081A>G (p.Glu694Gly) n.755A>G c.637-29169A>G (n.637-29169A>G) | |
15 | g.48503819T>G | CA392338090 | FBN1 | c.2081A>C (p.Glu694Ala) n.755A>C c.637-29169A>C (n.637-29169A>C) |