Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48537523_48537568dup | CA2628337585 | FBN1 | c.736+44_736+89dup (n.736+44_736+89dup) c.636+144_636+189dup (n.636+144_636+189dup) | gnomAD v4 |
15 | g.48537553A= | CA2175539251 | FBN1 | c.736+58T= (n.736+58T=) c.636+158T= (n.636+158T=) | |
15 | g.48537553A>G | CA270013331 | FBN1 | c.736+58T>C (n.736+58T>C) c.636+158T>C (n.636+158T>C) | dbSNP gnomAD v4 |
15 | g.48537553_48537555del | CA2628337597 | FBN1 | c.736+56_736+58del (n.736+56_736+58del) c.636+156_636+158del (n.636+156_636+158del) | gnomAD v4 |
15 | g.48537556G>A | CA2628337598 | FBN1 | c.736+55C>T (n.736+55C>T) c.636+155C>T (n.636+155C>T) | gnomAD v4 |
15 | g.48537556G= | CA2175539254 | FBN1 | c.736+55C= (n.736+55C=) c.636+155C= (n.636+155C=) | |
15 | g.48537556G>T | CA2175539256 | FBN1 | c.736+55C>A (n.736+55C>A) c.636+155C>A (n.636+155C>A) | dbSNP gnomAD v4 |
15 | g.48537558del | CA2628337599 | FBN1 | c.736+53del (n.736+53del) c.636+153del (n.636+153del) | gnomAD v4 |
15 | g.48537558T>C | CA2575717720 | FBN1 | c.736+53A>G (n.736+53A>G) c.636+153A>G (n.636+153A>G) | gnomAD v4 |
15 | g.48537559C>T | CA2628337600 | FBN1 | c.736+52G>A (n.736+52G>A) c.636+152G>A (n.636+152G>A) | gnomAD v4 |
15 | g.48537560_48537571del | CA2628337601 | FBN1 | c.736+40_736+51del (n.736+40_736+51del) c.636+140_636+151del (n.636+140_636+151del) | gnomAD v4 |
15 | g.48537561C= | CA2175539259 | FBN1 | c.736+50G= (n.736+50G=) c.636+150G= (n.636+150G=) | |
15 | g.48537561C>G | CA2628337602 | FBN1 | c.736+50G>C (n.736+50G>C) c.636+150G>C (n.636+150G>C) | gnomAD v4 |
15 | g.48537561C>T | CA618011944 | FBN1 | c.736+50G>A (n.736+50G>A) c.636+150G>A (n.636+150G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537562C= | CA2175539261 | FBN1 | c.736+49G= (n.736+49G=) c.636+149G= (n.636+149G=) | |
15 | g.48537562C>T | CA2175539262 | FBN1 | c.736+49G>A (n.736+49G>A) c.636+149G>A (n.636+149G>A) | dbSNP |
15 | g.48537564G>C | CA2575717721 | FBN1 | c.736+47C>G (n.736+47C>G) c.636+147C>G (n.636+147C>G) | gnomAD v4 |
15 | g.48537565A= | CA2175539264 | FBN1 | c.736+46T= (n.736+46T=) c.636+146T= (n.636+146T=) | |
15 | g.48537565A>G | CA270013338 | FBN1 | c.736+46T>C (n.736+46T>C) c.636+146T>C (n.636+146T>C) | dbSNP |
15 | g.48537566G>C | CA2175539267 | FBN1 | c.736+45C>G (n.736+45C>G) c.636+145C>G (n.636+145C>G) | dbSNP gnomAD v4 |
15 | g.48537566G= | CA2175539266 | FBN1 | c.736+45C= (n.736+45C=) c.636+145C= (n.636+145C=) | |
15 | g.48537566G>T | CA2628337603 | FBN1 | c.736+45C>A (n.736+45C>A) c.636+145C>A (n.636+145C>A) | gnomAD v4 |
15 | g.48537567C>A | CA969574405 | FBN1 | c.736+44G>T (n.736+44G>T) c.636+144G>T (n.636+144G>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537567C= | CA2175539269 | FBN1 | c.736+44G= (n.736+44G=) c.636+144G= (n.636+144G=) | |
15 | g.48537570A= | CA2175539270 | FBN1 | c.736+41T= (n.736+41T=) c.636+141T= (n.636+141T=) | |
15 | g.48537570A>G | CA058375 | FBN1 | c.736+41T>C (n.736+41T>C) c.636+141T>C (n.636+141T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48537571T>C | CA969574416 | FBN1 | c.736+40A>G (n.736+40A>G) c.636+140A>G (n.636+140A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537571T= | CA2175539274 | FBN1 | c.736+40A= (n.736+40A=) c.636+140A= (n.636+140A=) | |
15 | g.48537572A= | CA2175539276 | FBN1 | c.736+39T= (n.736+39T=) c.636+139T= (n.636+139T=) | |
15 | g.48537572A>C | CA618011945 | FBN1 | c.736+39T>G (n.736+39T>G) c.636+139T>G (n.636+139T>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48537572A>G | CA618011946 | FBN1 | c.736+39T>C (n.736+39T>C) c.636+139T>C (n.636+139T>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48537573A= | CA2175539282 | FBN1 | c.736+38T= (n.736+38T=) c.636+138T= (n.636+138T=) | |
15 | g.48537573A>C | CA058371 | FBN1 | c.736+38T>G (n.736+38T>G) c.636+138T>G (n.636+138T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537574G>A | CA969574425 | FBN1 | c.736+37C>T (n.736+37C>T) c.636+137C>T (n.636+137C>T) | dbSNP |
15 | g.48537574G= | CA2175539284 | FBN1 | c.736+37C= (n.736+37C=) c.636+137C= (n.636+137C=) | |
15 | g.48537576T>C | CA2628337604 | FBN1 | c.736+35A>G (n.736+35A>G) c.636+135A>G (n.636+135A>G) | gnomAD v4 |
15 | g.48537577T= | CA2175539286 | FBN1 | c.736+34A= (n.736+34A=) c.636+134A= (n.636+134A=) | |
15 | g.48537579_48537590dup | CA618011947 | FBN1 | c.736+22_736+33dup (n.736+22_736+33dup) c.636+122_636+133dup (n.636+122_636+133dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537580T>A | CA058367 | FBN1 | c.736+31A>T (n.736+31A>T) c.636+131A>T (n.636+131A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537580T>G | CA058361 | FBN1 | c.736+31A>C (n.736+31A>C) c.636+131A>C (n.636+131A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48537580T= | CA2175539288 | FBN1 | c.736+31A= (n.736+31A=) c.636+131A= (n.636+131A=) | |
15 | g.48537581C= | CA2175539294 | FBN1 | c.736+30G= (n.736+30G=) c.636+130G= (n.636+130G=) | |
15 | g.48537581C>G | CA2628337605 | FBN1 | c.736+30G>C (n.736+30G>C) c.636+130G>C (n.636+130G>C) | gnomAD v4 |
15 | g.48537581C>T | CA270013364 | FBN1 | c.736+30G>A (n.736+30G>A) c.636+130G>A (n.636+130G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537583A>G | CA2628337606 | FBN1 | c.736+28T>C (n.736+28T>C) c.636+128T>C (n.636+128T>C) | gnomAD v4 |
15 | g.48537585T>C | CA656136192 | FBN1 | c.736+26A>G (n.736+26A>G) c.636+126A>G (n.636+126A>G) | COSMIC COSMIC |
15 | g.48537586A>G | CA2628337607 | FBN1 | c.736+25T>C (n.736+25T>C) c.636+125T>C (n.636+125T>C) | gnomAD v4 |
15 | g.48537590_48537591delinsAT | CA2175539296 | FBN1 | c.736+20_736+21delinsAT (n.736+20_736+21delinsAT) c.636+120_636+121delinsAT (n.636+120_636+121delinsAT) | |
15 | g.48537591T>A | CA2628337608 | FBN1 | c.736+20A>T (n.736+20A>T) c.636+120A>T (n.636+120A>T) | gnomAD v4 |
15 | g.48537592del | CA618011948 | FBN1 | c.736+20del (n.736+20del) c.636+120del (n.636+120del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |