15 | g.48612873_48612875del | CA2628338182 | FBN1 | c.247+136_247+138del (n.247+136_247+138del)
| gnomAD v4 |
15 | g.48612875A= | CA2175574387 | FBN1 | c.247+135T= (n.247+135T=)
| |
15 | g.48612875A>C | CA969557321 | FBN1 | c.247+135T>G (n.247+135T>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48612876A= | CA2175574388 | FBN1 | c.247+134T= (n.247+134T=)
| |
15 | g.48612876A>G | CA270060654 | FBN1 | c.247+134T>C (n.247+134T>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48612878G>A | CA2628338184 | FBN1 | c.247+132C>T (n.247+132C>T)
| gnomAD v4 |
15 | g.48612878G>T | CA2628338183 | FBN1 | c.247+132C>A (n.247+132C>A)
| gnomAD v4 |
15 | g.48612879T>C | CA713375080 | FBN1 | c.247+131A>G (n.247+131A>G)
| dbSNP gnomAD v4 |
15 | g.48612879T= | CA2175574389 | FBN1 | c.247+131A= (n.247+131A=)
| |
15 | g.48612881T>C | CA2628338185 | FBN1 | c.247+129A>G (n.247+129A>G)
| gnomAD v4 |
15 | g.48612883A>T | CA2628338186 | FBN1 | c.247+127T>A (n.247+127T>A)
| gnomAD v4 |
15 | g.48612884A= | CA2175574390 | FBN1 | c.247+126T= (n.247+126T=)
| |
15 | g.48612884A>C | CA2175574391 | FBN1 | c.247+126T>G (n.247+126T>G)
| dbSNP |
15 | g.48612884A>G | CA2628338187 | FBN1 | c.247+126T>C (n.247+126T>C)
| gnomAD v4 |
15 | g.48612886G>C | CA969557326 | FBN1 | c.247+124C>G (n.247+124C>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48612886G= | CA2175574392 | FBN1 | c.247+124C= (n.247+124C=)
| |
15 | g.48612886G>T | CA2628338188 | FBN1 | c.247+124C>A (n.247+124C>A)
| gnomAD v4 |
15 | g.48612887C>A | CA2175574394 | FBN1 | c.247+123G>T (n.247+123G>T)
| dbSNP |
15 | g.48612887C= | CA2175574393 | FBN1 | c.247+123G= (n.247+123G=)
| |
15 | g.48612887C>G | CA2628338189 | FBN1 | c.247+123G>C (n.247+123G>C)
| gnomAD v4 |
15 | g.48612887C>T | CA656136125 | FBN1 | c.247+123G>A (n.247+123G>A)
| dbSNP COSMIC |
15 | g.48612888T>C | CA2804074513 | FBN1 | c.247+122A>G (n.247+122A>G)
| |
15 | g.48612888_48612897delinsTGGAAGGCTG | CA2175574395 | FBN1 | c.247+113_247+122delinsCAGCCTTCCA (n.247+113_247+122delinsCAGCCTTCCA)
| |
15 | g.48612889G>A | CA2628338190 | FBN1 | c.247+121C>T (n.247+121C>T)
| dbSNP gnomAD v4 |
15 | g.48612889G= | CA2175574396 | FBN1 | c.247+121C= (n.247+121C=)
| |
15 | g.48612889G>T | CA2175574397 | FBN1 | c.247+121C>A (n.247+121C>A)
| dbSNP |
15 | g.48612889_48612897del | CA969557327 | FBN1 | c.247+113_247+121del (n.247+113_247+121del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48612890G>A | CA2175574399 | FBN1 | c.247+120C>T (n.247+120C>T)
| dbSNP |
15 | g.48612890G= | CA2175574398 | FBN1 | c.247+120C= (n.247+120C=)
| |
15 | g.48612890G>T | CA2628338191 | FBN1 | c.247+120C>A (n.247+120C>A)
| gnomAD v4 |
15 | g.48612891A>G | CA2628338192 | FBN1 | c.247+119T>C (n.247+119T>C)
| gnomAD v4 |
15 | g.48612893G>A | CA2175574401 | FBN1 | c.247+117C>T (n.247+117C>T)
| dbSNP |
15 | g.48612893G= | CA2175574400 | FBN1 | c.247+117C= (n.247+117C=)
| |
15 | g.48612893G>T | CA2628338193 | FBN1 | c.247+117C>A (n.247+117C>A)
| gnomAD v4 |
15 | g.48612894G>C | CA2175574403 | FBN1 | c.247+116C>G (n.247+116C>G)
| dbSNP |
15 | g.48612894G= | CA2175574402 | FBN1 | c.247+116C= (n.247+116C=)
| |
15 | g.48612894G>T | CA2628338194 | FBN1 | c.247+116C>A (n.247+116C>A)
| gnomAD v4 |
15 | g.48612895C>A | CA2628338195 | FBN1 | c.247+115G>T (n.247+115G>T)
| gnomAD v4 |
15 | g.48612896_48612906delinsTGTACTATCAA | CA2175574404 | FBN1 | c.247+104_247+114delinsTTGATAGTACA (n.247+104_247+114delinsTTGATAGTACA)
| |
15 | g.48612897G>A | CA2628338196 | FBN1 | c.247+113C>T (n.247+113C>T)
| gnomAD v4 |
15 | g.48612897_48612906del | CA2175574405 | FBN1 | c.247+104_247+113del (n.247+104_247+113del)
| dbSNP |
15 | g.48612898T>A | CA2628338197 | FBN1 | c.247+112A>T (n.247+112A>T)
| gnomAD v4 |
15 | g.48612899A>T | CA2628338198 | FBN1 | c.247+111T>A (n.247+111T>A)
| gnomAD v4 |
15 | g.48612899_48612904delinsACTATC | CA2175574406 | FBN1 | c.247+106_247+111delinsGATAGT (n.247+106_247+111delinsGATAGT)
| |
15 | g.48612900C>G | CA2628338199 | FBN1 | c.247+110G>C (n.247+110G>C)
| gnomAD v4 |
15 | g.48612900_48612904del | CA969557332 | FBN1 | c.247+106_247+110del (n.247+106_247+110del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48612903T>C | CA2628338200 | FBN1 | c.247+107A>G (n.247+107A>G)
| gnomAD v4 |
15 | g.48612904C>A | CA2175574408 | FBN1 | c.247+106G>T (n.247+106G>T)
| dbSNP |
15 | g.48612904C= | CA2175574407 | FBN1 | c.247+106G= (n.247+106G=)
| |
15 | g.48612905A>G | CA2804074514 | FBN1 | c.247+105T>C (n.247+105T>C)
| |