Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48537522A= | CA2175539235 | FBN1 | c.736+89T= (n.736+89T=) c.636+189T= (n.636+189T=) | |
15 | g.48537522A>G | CA618011941 | FBN1 | c.736+89T>C (n.736+89T>C) c.636+189T>C (n.636+189T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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.48537523C>T | CA2804072243 | FBN1 | c.736+88G>A (n.736+88G>A) c.636+188G>A (n.636+188G>A) | |
15 | g.48537524T>A | CA713405377 | FBN1 | c.736+87A>T (n.736+87A>T) c.636+187A>T (n.636+187A>T) | dbSNP |
15 | g.48537524T= | CA2175539238 | FBN1 | c.736+87A= (n.736+87A=) c.636+187A= (n.636+187A=) | |
15 | g.48537527del | CA2628337586 | FBN1 | c.736+87del (n.736+87del) c.636+187del (n.636+187del) | gnomAD v4 |
15 | g.48537525T>G | CA270013322 | FBN1 | c.736+86A>C (n.736+86A>C) c.636+186A>C (n.636+186A>C) | dbSNP gnomAD v4 |
15 | g.48537525T= | CA2175539239 | FBN1 | c.736+86A= (n.736+86A=) c.636+186A= (n.636+186A=) | |
15 | g.48537527T>C | CA2804072244 | FBN1 | c.736+84A>G (n.736+84A>G) c.636+184A>G (n.636+184A>G) | |
15 | g.48537528C>A | CA2628337588 | FBN1 | c.736+83G>T (n.736+83G>T) c.636+183G>T (n.636+183G>T) | gnomAD v4 |
15 | g.48537528C>T | CA2628337587 | FBN1 | c.736+83G>A (n.736+83G>A) c.636+183G>A (n.636+183G>A) | gnomAD v4 |
15 | g.48537529C>G | CA2628337589 | FBN1 | c.736+82G>C (n.736+82G>C) c.636+182G>C (n.636+182G>C) | gnomAD v4 |
15 | g.48537529C>T | CA2628337590 | FBN1 | c.736+82G>A (n.736+82G>A) c.636+182G>A (n.636+182G>A) | gnomAD v4 |
15 | g.48537535C>G | CA2628337591 | FBN1 | c.736+76G>C (n.736+76G>C) c.636+176G>C (n.636+176G>C) | gnomAD v4 |
15 | g.48537536T>A | CA618011942 | FBN1 | c.736+75A>T (n.736+75A>T) c.636+175A>T (n.636+175A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537536T= | CA2175539241 | FBN1 | c.736+75A= (n.736+75A=) c.636+175A= (n.636+175A=) | |
15 | g.48537538C>A | CA2175539244 | FBN1 | c.736+73G>T (n.736+73G>T) c.636+173G>T (n.636+173G>T) | dbSNP |
15 | g.48537538C= | CA2175539243 | FBN1 | c.736+73G= (n.736+73G=) c.636+173G= (n.636+173G=) | |
15 | g.48537540A>G | CA2575717718 | FBN1 | c.736+71T>C (n.736+71T>C) c.636+171T>C (n.636+171T>C) | gnomAD v4 |
15 | g.48537542T>A | CA2628337592 | FBN1 | c.736+69A>T (n.736+69A>T) c.636+169A>T (n.636+169A>T) | gnomAD v4 |
15 | g.48537543T>G | CA713405382 | FBN1 | c.736+68A>C (n.736+68A>C) c.636+168A>C (n.636+168A>C) | dbSNP gnomAD v4 |
15 | g.48537543T= | CA2175539245 | FBN1 | c.736+68A= (n.736+68A=) c.636+168A= (n.636+168A=) | |
15 | g.48537545A>G | CA2628337593 | FBN1 | c.736+66T>C (n.736+66T>C) c.636+166T>C (n.636+166T>C) | gnomAD v4 |
15 | g.48537546T>C | CA2628337594 | FBN1 | c.736+65A>G (n.736+65A>G) c.636+165A>G (n.636+165A>G) | gnomAD v4 |
15 | g.48537548G>A | CA2628337595 | FBN1 | c.736+63C>T (n.736+63C>T) c.636+163C>T (n.636+163C>T) | gnomAD v4 |
15 | g.48537548G>T | CA2575717719 | FBN1 | c.736+63C>A (n.736+63C>A) c.636+163C>A (n.636+163C>A) | gnomAD v4 |
15 | g.48537549G= | CA2175539247 | FBN1 | c.736+62C= (n.736+62C=) c.636+162C= (n.636+162C=) | |
15 | g.48537549G>T | CA270013327 | FBN1 | c.736+62C>A (n.736+62C>A) c.636+162C>A (n.636+162C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537551G>C | CA618011943 | FBN1 | c.736+60C>G (n.736+60C>G) c.636+160C>G (n.636+160C>G) | dbSNP gnomAD v2 |
15 | g.48537551G= | CA2175539249 | FBN1 | c.736+60C= (n.736+60C=) c.636+160C= (n.636+160C=) | |
15 | g.48537551G>T | CA2628337596 | FBN1 | c.736+60C>A (n.736+60C>A) c.636+160C>A (n.636+160C>A) | 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 |