| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48537511T>C | CA2175539221 | FBN1 | c.736+100A>G (n.736+100A>G) c.636+200A>G (n.636+200A>G) | dbSNP |
| 15 | g.48537511T= | CA2175539220 | FBN1 | c.736+100A= (n.736+100A=) c.636+200A= (n.636+200A=) | |
| 15 | g.48537513G>A | CA270013319 | FBN1 | c.736+98C>T (n.736+98C>T) c.636+198C>T (n.636+198C>T) | dbSNP gnomAD v4 |
| 15 | g.48537513G= | CA2175539223 | FBN1 | c.736+98C= (n.736+98C=) c.636+198C= (n.636+198C=) | |
| 15 | g.48537513G>T | CA2575717716 | FBN1 | c.736+98C>A (n.736+98C>A) c.636+198C>A (n.636+198C>A) | gnomAD v4 |
| 15 | g.48537514C>T | CA2575717717 | FBN1 | c.736+97G>A (n.736+97G>A) c.636+197G>A (n.636+197G>A) | |
| 15 | g.48537515T>A | CA2175539227 | FBN1 | c.736+96A>T (n.736+96A>T) c.636+196A>T (n.636+196A>T) | dbSNP |
| 15 | g.48537515T>C | CA2628337579 | FBN1 | c.736+96A>G (n.736+96A>G) c.636+196A>G (n.636+196A>G) | gnomAD v4 |
| 15 | g.48537515T= | CA2175539226 | FBN1 | c.736+96A= (n.736+96A=) c.636+196A= (n.636+196A=) | |
| 15 | g.48537516G>T | CA2628337580 | FBN1 | c.736+95C>A (n.736+95C>A) c.636+195C>A (n.636+195C>A) | gnomAD v4 |
| 15 | g.48537517A>C | CA2628337581 | FBN1 | c.736+94T>G (n.736+94T>G) c.636+194T>G (n.636+194T>G) | gnomAD v4 |
| 15 | g.48537517A>G | CA2628337582 | FBN1 | c.736+94T>C (n.736+94T>C) c.636+194T>C (n.636+194T>C) | gnomAD v4 |
| 15 | g.48537518C>T | CA2628337583 | FBN1 | c.736+93G>A (n.736+93G>A) c.636+193G>A (n.636+193G>A) | gnomAD v4 |
| 15 | g.48537519A= | CA2175539229 | FBN1 | c.736+92T= (n.736+92T=) c.636+192T= (n.636+192T=) | |
| 15 | g.48537519A>G | CA270013320 | FBN1 | c.736+92T>C (n.736+92T>C) c.636+192T>C (n.636+192T>C) | dbSNP gnomAD v4 |
| 15 | g.48537520C>T | CA2628337584 | FBN1 | c.736+91G>A (n.736+91G>A) c.636+191G>A (n.636+191G>A) | gnomAD v4 |
| 15 | g.48537521T>A | CA270013321 | FBN1 | c.736+90A>T (n.736+90A>T) c.636+190A>T (n.636+190A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537521T= | CA2175539231 | FBN1 | c.736+90A= (n.736+90A=) c.636+190A= (n.636+190A=) | |
| 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.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.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 |