Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48537469C>A | CA2628337550 | FBN1 | c.736+142G>T (n.736+142G>T) c.636+242G>T (n.636+242G>T) | gnomAD v4 |
15 | g.48537469C= | CA2175539184 | FBN1 | c.736+142G= (n.736+142G=) c.636+242G= (n.636+242G=) | |
15 | g.48537469C>T | CA2175539185 | FBN1 | c.736+142G>A (n.736+142G>A) c.636+242G>A (n.636+242G>A) | dbSNP gnomAD v4 |
15 | g.48537470T>C | CA2628337551 | FBN1 | c.736+141A>G (n.736+141A>G) c.636+241A>G (n.636+241A>G) | gnomAD v4 |
15 | g.48537471T>G | CA2628337552 | FBN1 | c.736+140A>C (n.736+140A>C) c.636+240A>C (n.636+240A>C) | gnomAD v4 |
15 | g.48537472A= | CA2175539186 | FBN1 | c.736+139T= (n.736+139T=) c.636+239T= (n.636+239T=) | |
15 | g.48537472A>T | CA2628337553 | FBN1 | c.736+139T>A (n.736+139T>A) c.636+239T>A (n.636+239T>A) | gnomAD v4 |
15 | g.48537473G>T | CA2628337554 | FBN1 | c.736+138C>A (n.736+138C>A) c.636+238C>A (n.636+238C>A) | gnomAD v4 |
15 | g.48537473_48537479dup | CA2175539187 | FBN1 | c.736+132_736+138dup (n.736+132_736+138dup) c.636+232_636+238dup (n.636+232_636+238dup) | dbSNP gnomAD v4 |
15 | g.48537474T>C | CA713405356 | FBN1 | c.736+137A>G (n.736+137A>G) c.636+237A>G (n.636+237A>G) | dbSNP |
15 | g.48537474T= | CA2175539189 | FBN1 | c.736+137A= (n.736+137A=) c.636+237A= (n.636+237A=) | |
15 | g.48537475T>A | CA2730866559 | FBN1 | c.736+136A>T (n.736+136A>T) c.636+236A>T (n.636+236A>T) | dbSNP |
15 | g.48537476G>C | CA2628337555 | FBN1 | c.736+135C>G (n.736+135C>G) c.636+235C>G (n.636+235C>G) | gnomAD v4 |
15 | g.48537476G>T | CA2628337556 | FBN1 | c.736+135C>A (n.736+135C>A) c.636+235C>A (n.636+235C>A) | gnomAD v4 |
15 | g.48537477G>T | CA2628337557 | FBN1 | c.736+134C>A (n.736+134C>A) c.636+234C>A (n.636+234C>A) | gnomAD v4 |
15 | g.48537478A= | CA2175539191 | FBN1 | c.736+133T= (n.736+133T=) c.636+233T= (n.636+233T=) | |
15 | g.48537478A>G | CA2175539194 | FBN1 | c.736+133T>C (n.736+133T>C) c.636+233T>C (n.636+233T>C) | dbSNP gnomAD v4 |
15 | g.48537479T>C | CA2175539197 | FBN1 | c.736+132A>G (n.736+132A>G) c.636+232A>G (n.636+232A>G) | dbSNP gnomAD v4 |
15 | g.48537479T= | CA2175539196 | FBN1 | c.736+132A= (n.736+132A=) c.636+232A= (n.636+232A=) | |
15 | g.48537480A>G | CA2628337558 | FBN1 | c.736+131T>C (n.736+131T>C) c.636+231T>C (n.636+231T>C) | gnomAD v4 |
15 | g.48537481T>C | CA2628337559 | FBN1 | c.736+130A>G (n.736+130A>G) c.636+230A>G (n.636+230A>G) | gnomAD v4 |
15 | g.48537482C>A | CA2628337560 | FBN1 | c.736+129G>T (n.736+129G>T) c.636+229G>T (n.636+229G>T) | gnomAD v4 |
15 | g.48537482C= | CA2175539198 | FBN1 | c.736+129G= (n.736+129G=) c.636+229G= (n.636+229G=) | |
15 | g.48537482C>G | CA2175539199 | FBN1 | c.736+129G>C (n.736+129G>C) c.636+229G>C (n.636+229G>C) | dbSNP gnomAD v4 |
15 | g.48537483A= | CA2175539201 | FBN1 | c.736+128T= (n.736+128T=) c.636+228T= (n.636+228T=) | |
15 | g.48537483A>G | CA2175539200 | FBN1 | c.736+128T>C (n.736+128T>C) c.636+228T>C (n.636+228T>C) | dbSNP |
15 | g.48537484T>C | CA2628337561 | FBN1 | c.736+127A>G (n.736+127A>G) c.636+227A>G (n.636+227A>G) | gnomAD v4 |
15 | g.48537485G>T | CA2628337562 | FBN1 | c.736+126C>A (n.736+126C>A) c.636+226C>A (n.636+226C>A) | gnomAD v4 |
15 | g.48537486C>A | CA2628337563 | FBN1 | c.736+125G>T (n.736+125G>T) c.636+225G>T (n.636+225G>T) | gnomAD v4 |
15 | g.48537486C>G | CA2628337564 | FBN1 | c.736+125G>C (n.736+125G>C) c.636+225G>C (n.636+225G>C) | gnomAD v4 |
15 | g.48537486C>T | CA2628337565 | FBN1 | c.736+125G>A (n.736+125G>A) c.636+225G>A (n.636+225G>A) | gnomAD v4 |
15 | g.48537488G>T | CA2628337566 | FBN1 | c.736+123C>A (n.736+123C>A) c.636+223C>A (n.636+223C>A) | gnomAD v4 |
15 | g.48537490C>A | CA2628337568 | FBN1 | c.736+121G>T (n.736+121G>T) c.636+221G>T (n.636+221G>T) | gnomAD v4 |
15 | g.48537490C>G | CA2628337567 | FBN1 | c.736+121G>C (n.736+121G>C) c.636+221G>C (n.636+221G>C) | gnomAD v4 |
15 | g.48537491A>C | CA2628337569 | FBN1 | c.736+120T>G (n.736+120T>G) c.636+220T>G (n.636+220T>G) | gnomAD v4 |
15 | g.48537492G>T | CA2628337570 | FBN1 | c.736+119C>A (n.736+119C>A) c.636+219C>A (n.636+219C>A) | gnomAD v4 |
15 | g.48537493C>A | CA2628337571 | FBN1 | c.736+118G>T (n.736+118G>T) c.636+218G>T (n.636+218G>T) | gnomAD v4 |
15 | g.48537493C= | CA2175539203 | FBN1 | c.736+118G= (n.736+118G=) c.636+218G= (n.636+218G=) | |
15 | g.48537493C>T | CA270013289 | FBN1 | c.736+118G>A (n.736+118G>A) c.636+218G>A (n.636+218G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537494G>A | CA270013292 | FBN1 | c.736+117C>T (n.736+117C>T) c.636+217C>T (n.636+217C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537494G= | CA2175539207 | FBN1 | c.736+117C= (n.736+117C=) c.636+217C= (n.636+217C=) | |
15 | g.48537494G>T | CA2628337572 | FBN1 | c.736+117C>A (n.736+117C>A) c.636+217C>A (n.636+217C>A) | gnomAD v4 |
15 | g.48537498T>C | CA270013306 | FBN1 | c.736+113A>G (n.736+113A>G) c.636+213A>G (n.636+213A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537498T= | CA2175539209 | FBN1 | c.736+113A= (n.736+113A=) c.636+213A= (n.636+213A=) | |
15 | g.48537499T>C | CA2628337573 | FBN1 | c.736+112A>G (n.736+112A>G) c.636+212A>G (n.636+212A>G) | gnomAD v4 |
15 | g.48537500G>T | CA2628337574 | FBN1 | c.736+111C>A (n.736+111C>A) c.636+211C>A (n.636+211C>A) | gnomAD v4 |
15 | g.48537501_48537502delinsTG | CA2175539211 | FBN1 | c.736+109_736+110delinsCA (n.736+109_736+110delinsCA) c.636+209_636+210delinsCA (n.636+209_636+210delinsCA) | |
15 | g.48537502del | CA618011939 | FBN1 | c.736+109del (n.736+109del) c.636+209del (n.636+209del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537502G>A | CA2628337575 | FBN1 | c.736+109C>T (n.736+109C>T) c.636+209C>T (n.636+209C>T) | gnomAD v4 |
15 | g.48537502G>T | CA2628337576 | FBN1 | c.736+109C>A (n.736+109C>A) c.636+209C>A (n.636+209C>A) | gnomAD v4 |