| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48503773A>G | CA2730867631 | FBN1 | c.2113+14T>C (n.2113+14T>C) n.787+14T>C c.637-29123T>C (n.637-29123T>C) | dbSNP |
| 15 | g.48503774T>C | CA046775 | FBN1 | c.2113+13A>G (n.2113+13A>G) n.787+13A>G c.637-29124A>G (n.637-29124A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503774T= | CA2175526341 | FBN1 | c.2113+13A= (n.2113+13A=) n.787+13A= c.637-29124A= (n.637-29124A=) | |
| 15 | g.48503775G>A | CA269548861 | FBN1 | c.2113+12C>T (n.2113+12C>T) n.787+12C>T c.637-29125C>T (n.637-29125C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503775G= | CA2175526343 | FBN1 | c.2113+12C= (n.2113+12C=) n.787+12C= c.637-29125C= (n.637-29125C=) | |
| 15 | g.48503779C>A | CA2175526348 | FBN1 | c.2113+8G>T (n.2113+8G>T) n.787+8G>T c.637-29129G>T (n.637-29129G>T) | dbSNP gnomAD v4 |
| 15 | g.48503779C= | CA2175526346 | FBN1 | c.2113+8G= (n.2113+8G=) n.787+8G= c.637-29129G= (n.637-29129G=) | |
| 15 | g.48503779C>G | CA046851 | FBN1 | c.2113+8G>C (n.2113+8G>C) n.787+8G>C c.637-29129G>C (n.637-29129G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503779C>T | CA046844 | FBN1 | c.2113+8G>A (n.2113+8G>A) n.787+8G>A c.637-29129G>A (n.637-29129G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503780C>A | CA2628335761 | FBN1 | c.2113+7G>T (n.2113+7G>T) n.787+7G>T c.637-29130G>T (n.637-29130G>T) | gnomAD v4 |
| 15 | g.48503780C= | CA2175526351 | FBN1 | c.2113+7G= (n.2113+7G=) n.787+7G= c.637-29130G= (n.637-29130G=) | |
| 15 | g.48503780C>G | CA2175526353 | FBN1 | c.2113+7G>C (n.2113+7G>C) n.787+7G>C c.637-29130G>C (n.637-29130G>C) | dbSNP |
| 15 | g.48503780C>T | CA046835 | FBN1 | c.2113+7G>A (n.2113+7G>A) n.787+7G>A c.637-29130G>A (n.637-29130G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503781A>T | CA2730867647 | FBN1 | c.2113+6T>A (n.2113+6T>A) n.787+6T>A c.637-29131T>A (n.637-29131T>A) | dbSNP |
| 15 | g.48503783A>G | CA2573150767 | FBN1 | c.2113+4T>C (n.2113+4T>C) n.787+4T>C c.637-29133T>C (n.637-29133T>C) | ClinVar dbSNP |
| 15 | g.48503784T>G | CA2695220763 | FBN1 | c.2113+3A>C (n.2113+3A>C) n.787+3A>C c.637-29134A>C (n.637-29134A>C) | |
| 15 | g.48503785A= | CA2175526357 | FBN1 | c.2113+2T= (n.2113+2T=) n.787+2T= c.637-29135T= (n.637-29135T=) | |
| 15 | g.48503785A>C | CA16606975 | FBN1 | c.2113+2T>G (n.2113+2T>G) n.787+2T>G c.637-29135T>G (n.637-29135T>G) | ClinVar dbSNP |
| 15 | g.48503785A>G | CA012783 | FBN1 | c.2113+2T>C (n.2113+2T>C) n.787+2T>C c.637-29135T>C (n.637-29135T>C) | ClinVar dbSNP |
| 15 | g.48503785A>T | CA392337843 | FBN1 | c.2113+2T>A (n.2113+2T>A) n.787+2T>A c.637-29135T>A (n.637-29135T>A) | |
| 15 | g.48503786C>A | CA392337848 | FBN1 | c.2113+1G>T (n.2113+1G>T) n.787+1G>T c.637-29136G>T (n.637-29136G>T) | ClinVar dbSNP |
| 15 | g.48503786C= | CA2175526366 | FBN1 | c.2113+1G= (n.2113+1G=) n.787+1G= c.637-29136G= (n.637-29136G=) | |
| 15 | g.48503786C>G | CA392337850 | FBN1 | c.2113+1G>C (n.2113+1G>C) n.787+1G>C c.637-29136G>C (n.637-29136G>C) | ClinVar dbSNP |
| 15 | g.48503786C>T | CA392337853 | FBN1 | c.2113+1G>A (n.2113+1G>A) n.787+1G>A c.637-29136G>A (n.637-29136G>A) | ClinVar dbSNP |
| 15 | g.48503786_48503787del | CA2695220765 | FBN1 | c.2113_2113+1del n.787_787+1del c.637-29137_637-29136del (n.637-29137_637-29136del) | |
| 15 | g.48503787del | CA2730867947 | FBN1 | c.2113+1del n.787+1del c.637-29136del (n.637-29136del) | dbSNP |
| 15 | g.48503787C>A | CA392337858 | FBN1 | c.2113G>T (p.Ala705Ser) n.787G>T c.637-29137G>T (n.637-29137G>T) | |
| 15 | g.48503787C= | CA2175526377 | FBN1 | c.2113G= (p.Ala705=) n.787G= c.637-29137G= (n.637-29137G=) | |
| 15 | g.48503787C>G | CA392337860 | FBN1 | c.2113G>C (p.Ala705Pro) n.787G>C c.637-29137G>C (n.637-29137G>C) | |
| 15 | g.48503787C>T | CA392337863 | FBN1 | c.2113G>A (p.Ala705Thr) n.787G>A c.637-29137G>A (n.637-29137G>A) | ClinVar dbSNP |
| 15 | g.48503788T>A | CA490024153 | FBN1 | c.2112A>T (p.Ser704=) n.786A>T c.637-29138A>T (n.637-29138A>T) | ClinVar |
| 15 | g.48503788T>C | CA490024154 | FBN1 | c.2112A>G (p.Ser704=) n.786A>G c.637-29138A>G (n.637-29138A>G) | COSMIC |
| 15 | g.48503788T>G | CA490024155 | FBN1 | c.2112A>C (p.Ser704=) n.786A>C c.637-29138A>C (n.637-29138A>C) | ClinVar |
| 15 | g.48503789G>A | CA392337864 | FBN1 | c.2111C>T (p.Ser704Leu) n.785C>T c.637-29139C>T (n.637-29139C>T) | |
| 15 | g.48503789G>C | CA392337866 | FBN1 | c.2111C>G (p.Ser704Ter) n.785C>G c.637-29139C>G (n.637-29139C>G) | ClinVar dbSNP |
| 15 | g.48503789G= | CA2175526383 | FBN1 | c.2111C= (p.Ser704=) n.785C= c.637-29139C= (n.637-29139C=) | |
| 15 | g.48503789G>T | CA392337868 | FBN1 | c.2111C>A (p.Ser704Ter) n.785C>A c.637-29139C>A (n.637-29139C>A) | |
| 15 | g.48503790A>C | CA392337870 | FBN1 | c.2110T>G (p.Ser704Ala) n.784T>G c.637-29140T>G (n.637-29140T>G) | |
| 15 | g.48503790A>G | CA392337873 | FBN1 | c.2110T>C (p.Ser704Pro) n.784T>C c.637-29140T>C (n.637-29140T>C) | |
| 15 | g.48503790A>T | CA392337874 | FBN1 | c.2110T>A (p.Ser704Thr) n.784T>A c.637-29140T>A (n.637-29140T>A) | |
| 15 | g.48503791A>C | CA392337879 | FBN1 | c.2109T>G (p.Asn703Lys) n.783T>G c.637-29141T>G (n.637-29141T>G) | gnomAD v4 |
| 15 | g.48503791A>G | CA490024156 | FBN1 | c.2109T>C (p.Asn703=) n.783T>C c.637-29141T>C (n.637-29141T>C) | |
| 15 | g.48503791A>T | CA392337883 | FBN1 | c.2109T>A (p.Asn703Lys) n.783T>A c.637-29141T>A (n.637-29141T>A) | |
| 15 | g.48503792T>A | CA392337889 | FBN1 | c.2108A>T (p.Asn703Ile) n.782A>T c.637-29142A>T (n.637-29142A>T) | |
| 15 | g.48503792T>C | CA392337892 | FBN1 | c.2108A>G (p.Asn703Ser) n.782A>G c.637-29142A>G (n.637-29142A>G) | |
| 15 | g.48503792T>G | CA392337887 | FBN1 | c.2108A>C (p.Asn703Thr) n.782A>C c.637-29142A>C (n.637-29142A>C) | |
| 15 | g.48503793T>A | CA392337896 | FBN1 | c.2107A>T (p.Asn703Tyr) n.781A>T c.637-29143A>T (n.637-29143A>T) | |
| 15 | g.48503793T>C | CA392337898 | FBN1 | c.2107A>G (p.Asn703Asp) n.781A>G c.637-29143A>G (n.637-29143A>G) | |
| 15 | g.48503793T>G | CA392337902 | FBN1 | c.2107A>C (p.Asn703His) n.781A>C c.637-29143A>C (n.637-29143A>C) | gnomAD v4 |
| 15 | g.48503794C>A | CA046769 | FBN1 | c.2106G>T (p.Gln702His) n.780G>T c.637-29144G>T (n.637-29144G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |