Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48537432A= | CA2175539138 | FBN1 | c.736+179T= (n.736+179T=) c.636+279T= (n.636+279T=) | |
15 | g.48537432A>T | CA713405327 | FBN1 | c.736+179T>A (n.736+179T>A) c.636+279T>A (n.636+279T>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537434T>A | CA969574383 | FBN1 | c.736+177A>T (n.736+177A>T) c.636+277A>T (n.636+277A>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537434T= | CA2175539140 | FBN1 | c.736+177A= (n.736+177A=) c.636+277A= (n.636+277A=) | |
15 | g.48537435T>A | CA969574384 | FBN1 | c.736+176A>T (n.736+176A>T) c.636+276A>T (n.636+276A>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537435T= | CA2175539142 | FBN1 | c.736+176A= (n.736+176A=) c.636+276A= (n.636+276A=) | |
15 | g.48537441G= | CA2175539143 | FBN1 | c.736+170C= (n.736+170C=) c.636+270C= (n.636+270C=) | |
15 | g.48537441G>T | CA2175539144 | FBN1 | c.736+170C>A (n.736+170C>A) c.636+270C>A (n.636+270C>A) | dbSNP |
15 | g.48537442C= | CA2175539146 | FBN1 | c.736+169G= (n.736+169G=) c.636+269G= (n.636+269G=) | |
15 | g.48537442C>G | CA2175539147 | FBN1 | c.736+169G>C (n.736+169G>C) c.636+269G>C (n.636+269G>C) | dbSNP |
15 | g.48537442C>T | CA2175539150 | FBN1 | c.736+169G>A (n.736+169G>A) c.636+269G>A (n.636+269G>A) | dbSNP |
15 | g.48537444C= | CA2175539152 | FBN1 | c.736+167G= (n.736+167G=) c.636+267G= (n.636+267G=) | |
15 | g.48537444C>T | CA713405332 | FBN1 | c.736+167G>A (n.736+167G>A) c.636+267G>A (n.636+267G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537447T>C | CA713405333 | FBN1 | c.736+164A>G (n.736+164A>G) c.636+264A>G (n.636+264A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537447T>G | CA270013263 | FBN1 | c.736+164A>C (n.736+164A>C) c.636+264A>C (n.636+264A>C) | dbSNP |
15 | g.48537447T= | CA2175539157 | FBN1 | c.736+164A= (n.736+164A=) c.636+264A= (n.636+264A=) | |
15 | g.48537448C>A | CA270013265 | FBN1 | c.736+163G>T (n.736+163G>T) c.636+263G>T (n.636+263G>T) | dbSNP |
15 | g.48537448C= | CA2175539160 | FBN1 | c.736+163G= (n.736+163G=) c.636+263G= (n.636+263G=) | |
15 | g.48537448C>G | CA713405336 | FBN1 | c.736+163G>C (n.736+163G>C) c.636+263G>C (n.636+263G>C) | dbSNP |
15 | g.48537448C>T | CA270013267 | FBN1 | c.736+163G>A (n.736+163G>A) c.636+263G>A (n.636+263G>A) | dbSNP |
15 | g.48537449G>A | CA270013271 | FBN1 | c.736+162C>T (n.736+162C>T) c.636+262C>T (n.636+262C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537449G= | CA2175539162 | FBN1 | c.736+162C= (n.736+162C=) c.636+262C= (n.636+262C=) | |
15 | g.48537451G>A | CA2175539166 | FBN1 | c.736+160C>T (n.736+160C>T) c.636+260C>T (n.636+260C>T) | dbSNP |
15 | g.48537451G>C | CA618011938 | FBN1 | c.736+160C>G (n.736+160C>G) c.636+260C>G (n.636+260C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537451G= | CA2175539164 | FBN1 | c.736+160C= (n.736+160C=) c.636+260C= (n.636+260C=) | |
15 | g.48537454C= | CA2175539167 | FBN1 | c.736+157G= (n.736+157G=) c.636+257G= (n.636+257G=) | |
15 | g.48537454C>T | CA270013272 | FBN1 | c.736+157G>A (n.736+157G>A) c.636+257G>A (n.636+257G>A) | dbSNP |
15 | g.48537455C= | CA2175539169 | FBN1 | c.736+156G= (n.736+156G=) c.636+256G= (n.636+256G=) | |
15 | g.48537455C>T | CA270013273 | FBN1 | c.736+156G>A (n.736+156G>A) c.636+256G>A (n.636+256G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537457C>A | CA2519043118 | FBN1 | c.736+154G>T (n.736+154G>T) c.636+254G>T (n.636+254G>T) | |
15 | g.48537457C= | CA2175539171 | FBN1 | c.736+154G= (n.736+154G=) c.636+254G= (n.636+254G=) | |
15 | g.48537457C>T | CA270013274 | FBN1 | c.736+154G>A (n.736+154G>A) c.636+254G>A (n.636+254G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537458G>A | CA713405353 | FBN1 | c.736+153C>T (n.736+153C>T) c.636+253C>T (n.636+253C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537458G= | CA2175539173 | FBN1 | c.736+153C= (n.736+153C=) c.636+253C= (n.636+253C=) | |
15 | g.48537461C>A | CA2628337542 | FBN1 | c.736+150G>T (n.736+150G>T) c.636+250G>T (n.636+250G>T) | gnomAD v4 |
15 | g.48537461C>T | CA2628337543 | FBN1 | c.736+150G>A (n.736+150G>A) c.636+250G>A (n.636+250G>A) | gnomAD v4 |
15 | g.48537462C>A | CA2628337544 | FBN1 | c.736+149G>T (n.736+149G>T) c.636+249G>T (n.636+249G>T) | gnomAD v4 |
15 | g.48537462C= | CA2175539175 | FBN1 | c.736+149G= (n.736+149G=) c.636+249G= (n.636+249G=) | |
15 | g.48537463dup | CA2175539176 | FBN1 | c.736+148dup (n.736+148dup) c.636+248dup (n.636+248dup) | dbSNP gnomAD v4 |
15 | g.48537464A>G | CA2628337545 | FBN1 | c.736+147T>C (n.736+147T>C) c.636+247T>C (n.636+247T>C) | gnomAD v4 |
15 | g.48537465A>C | CA2628337546 | FBN1 | c.736+146T>G (n.736+146T>G) c.636+246T>G (n.636+246T>G) | gnomAD v4 |
15 | g.48537466T>A | CA656136186 | FBN1 | c.736+145A>T (n.736+145A>T) c.636+245A>T (n.636+245A>T) | gnomAD v4 COSMIC |
15 | g.48537466T>C | CA270013278 | FBN1 | c.736+145A>G (n.736+145A>G) c.636+245A>G (n.636+245A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537466T= | CA2175539181 | FBN1 | c.736+145A= (n.736+145A=) c.636+245A= (n.636+245A=) | |
15 | g.48537467G>T | CA2628337547 | FBN1 | c.736+144C>A (n.736+144C>A) c.636+244C>A (n.636+244C>A) | gnomAD v4 |
15 | g.48537468C>A | CA2628337548 | FBN1 | c.736+143G>T (n.736+143G>T) c.636+243G>T (n.636+243G>T) | gnomAD v4 |
15 | g.48537468C= | CA2175539183 | FBN1 | c.736+143G= (n.736+143G=) c.636+243G= (n.636+243G=) | |
15 | g.48537468C>G | CA969574394 | FBN1 | c.736+143G>C (n.736+143G>C) c.636+243G>C (n.636+243G>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537468C>T | CA2628337549 | FBN1 | c.736+143G>A (n.736+143G>A) c.636+243G>A (n.636+243G>A) | gnomAD v4 |
15 | g.48537469C>A | CA2628337550 | FBN1 | c.736+142G>T (n.736+142G>T) c.636+242G>T (n.636+242G>T) | gnomAD v4 |