15 | g.48612974A>G | CA2628338228 | FBN1 | c.247+36T>C (n.247+36T>C)
| gnomAD v4 |
15 | g.48612975G>T | CA2628338229 | FBN1 | c.247+35C>A (n.247+35C>A)
| gnomAD v4 |
15 | g.48612976G>C | CA047696 | FBN1 | c.247+34C>G (n.247+34C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48612976G= | CA2175574438 | FBN1 | c.247+34C= (n.247+34C=)
| |
15 | g.48612976G>T | CA2628338230 | FBN1 | c.247+34C>A (n.247+34C>A)
| gnomAD v4 |
15 | g.48612979A>G | CA2628338231 | FBN1 | c.247+31T>C (n.247+31T>C)
| gnomAD v4 |
15 | g.48612980T>A | CA2628338232 | FBN1 | c.247+30A>T (n.247+30A>T)
| gnomAD v4 |
15 | g.48612980T>C | CA047690 | FBN1 | c.247+30A>G (n.247+30A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48612980T>G | CA047687 | FBN1 | c.247+30A>C (n.247+30A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48612980T= | CA2175574439 | FBN1 | c.247+30A= (n.247+30A=)
| |
15 | g.48612981G>T | CA2575717819 | FBN1 | c.247+29C>A (n.247+29C>A)
| gnomAD v4 |
15 | g.48612982C>A | CA617942932 | FBN1 | c.247+28G>T (n.247+28G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48612982C= | CA2175574440 | FBN1 | c.247+28G= (n.247+28G=)
| |
15 | g.48612982C>T | CA2628338233 | FBN1 | c.247+28G>A (n.247+28G>A)
| gnomAD v4 |
15 | g.48612983A>G | CA2628338234 | FBN1 | c.247+27T>C (n.247+27T>C)
| gnomAD v4 |
15 | g.48612984G= | CA2175574441 | FBN1 | c.247+26C= (n.247+26C=)
| |
15 | g.48612984G>T | CA617942933 | FBN1 | c.247+26C>A (n.247+26C>A)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.48612988G>C | CA047684 | FBN1 | c.247+22C>G (n.247+22C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48612988G= | CA2175574442 | FBN1 | c.247+22C= (n.247+22C=)
| |
15 | g.48612988G>T | CA2628338235 | FBN1 | c.247+22C>A (n.247+22C>A)
| gnomAD v4 |
15 | g.48612989A= | CA2175574444 | FBN1 | c.247+21T= (n.247+21T=)
| |
15 | g.48612989A>C | CA2575717820 | FBN1 | c.247+21T>G (n.247+21T>G)
| |
15 | g.48612989A>G | CA2175574443 | FBN1 | c.247+21T>C (n.247+21T>C)
| dbSNP |
15 | g.48612990C>T | CA2573150817 | FBN1 | c.247+20G>A (n.247+20G>A)
| ClinVar dbSNP |
15 | g.48612991A>T | CA2628338236 | FBN1 | c.247+19T>A (n.247+19T>A)
| gnomAD v4 |
15 | g.48612992A>G | CA2628338237 | FBN1 | c.247+18T>C (n.247+18T>C)
| gnomAD v4 |
15 | g.48613000A= | CA2175574445 | FBN1 | c.247+10T= (n.247+10T=)
| |
15 | g.48613000A>G | CA013091 | FBN1 | c.247+10T>C (n.247+10T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48613000A>T | CA2628338238 | FBN1 | c.247+10T>A (n.247+10T>A)
| gnomAD v4 |
15 | g.48613001T>C | CA2573050652 | FBN1 | c.247+9A>G (n.247+9A>G)
| ClinVar dbSNP |
15 | g.48613001T>G | CA658798369 | FBN1 | c.247+9A>C (n.247+9A>C)
| ClinVar dbSNP gnomAD v4 |
15 | g.48613001T= | CA2175574446 | FBN1 | c.247+9A= (n.247+9A=)
| |
15 | g.48613002T>G | CA713375123 | FBN1 | c.247+8A>C (n.247+8A>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48613002T= | CA2175574447 | FBN1 | c.247+8A= (n.247+8A=)
| |
15 | g.48613005C= | CA2175574448 | FBN1 | c.247+5G= (n.247+5G=)
| |
15 | g.48613005C>G | CA2580089574 | FBN1 | c.247+5G>C (n.247+5G>C)
| ClinVar |
15 | g.48613005C>T | CA1139663967 | FBN1 | c.247+5G>A (n.247+5G>A)
| ClinVar dbSNP |
15 | g.48613006T>A | CA645587491 | FBN1 | c.247+4A>T (n.247+4A>T)
| COSMIC |
15 | g.48613007del | CA2580089575 | FBN1 | c.247+4del (n.247+4del)
| ClinVar |
15 | g.48613007T>A | CA2695220691 | FBN1 | c.247+3A>T (n.247+3A>T)
| |
15 | g.48613007T>C | CA047706 | FBN1 | c.247+3A>G (n.247+3A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48613007T>G | CA891843977 | FBN1 | c.247+3A>C (n.247+3A>C)
| ClinVar dbSNP |
15 | g.48613007T= | CA2175574449 | FBN1 | c.247+3A= (n.247+3A=)
| |
15 | g.48613008A>C | CA392448093 | FBN1 | c.247+2T>G (n.247+2T>G)
| |
15 | g.48613008A>G | CA392448089 | FBN1 | c.247+2T>C (n.247+2T>C)
| gnomAD v4 |
15 | g.48613008A>T | CA392448086 | FBN1 | c.247+2T>A (n.247+2T>A)
| |
15 | g.48613008dup | CA013108 | FBN1 | c.247+2dup (n.247+2dup)
| ClinVar dbSNP |
15 | g.48613009C>A | CA392448097 | FBN1 | c.247+1G>T (n.247+1G>T)
| ClinVar dbSNP |
15 | g.48613009C= | CA2175574450 | FBN1 | c.247+1G= (n.247+1G=)
| |
15 | g.48613009C>G | CA392448101 | FBN1 | c.247+1G>C (n.247+1G>C)
| |