| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128537479_128537481dup | CA563056357 | FBN2 | c.131_133dup (p.Pro44_Gln45insPro) n.751_753dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128537479_128537481del | CA563056356 | FBN2 | c.131_133del (p.Pro44del) n.751_753del | gnomAD v2 gnomAD v4 |
| 5 | g.128537472C>A | CA446308958 | FBN2 | c.132G>T (p.Pro44=) n.752G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128537472C= | CA1581363545 | FBN2 | c.132G= (p.Pro44=) n.752G= | |
| 5 | g.128537472C>G | CA3396217 | FBN2 | c.132G>C (p.Pro44=) n.752G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128537472C>T | CA127059002 | FBN2 | c.132G>A (p.Pro44=) n.752G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128537473G>A | CA360762633 | FBN2 | c.131C>T (p.Pro44Leu) n.751C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128537473G>C | CA360762628 | FBN2 | c.131C>G (p.Pro44Arg) n.751C>G | |
| 5 | g.128537473G= | CA1581363546 | FBN2 | c.131C= (p.Pro44=) n.751C= | |
| 5 | g.128537473G>T | CA360762631 | FBN2 | c.131C>A (p.Pro44Gln) n.751C>A | gnomAD v4 |
| 5 | g.128537474G>A | CA360762638 | FBN2 | c.130C>T (p.Pro44Ser) n.750C>T | |
| 5 | g.128537474G>C | CA360762639 | FBN2 | c.130C>G (p.Pro44Ala) n.750C>G | |
| 5 | g.128537474G>T | CA360762640 | FBN2 | c.130C>A (p.Pro44Thr) n.750C>A | gnomAD v4 |
| 5 | g.128537475_128537489dup | CA2739275011 | FBN2 | c.116_130dup (p.Pro43_Pro44insArgProGlnProPro) n.736_750dup | ClinVar |
| 5 | g.128537475C>A | CA446308959 | FBN2 | c.129G>T (p.Pro43=) n.749G>T | gnomAD v4 |
| 5 | g.128537475C>G | CA446308960 | FBN2 | c.129G>C (p.Pro43=) n.749G>C | |
| 5 | g.128537475C>T | CA446308961 | FBN2 | c.129G>A (p.Pro43=) n.749G>A | gnomAD v4 |
| 5 | g.128537476G>A | CA360762642 | FBN2 | c.128C>T (p.Pro43Leu) n.748C>T | gnomAD v4 |
| 5 | g.128537476G>C | CA360762645 | FBN2 | c.128C>G (p.Pro43Arg) n.748C>G | gnomAD v4 |
| 5 | g.128537476G>T | CA360762648 | FBN2 | c.128C>A (p.Pro43Gln) n.748C>A | gnomAD v4 |
| 5 | g.128537477G>A | CA360762652 | FBN2 | c.127C>T (p.Pro43Ser) n.747C>T | gnomAD v4 |
| 5 | g.128537477G>C | CA360762653 | FBN2 | c.127C>G (p.Pro43Ala) n.747C>G | dbSNP |
| 5 | g.128537477G= | CA1581363547 | FBN2 | c.127C= (p.Pro43=) n.747C= | |
| 5 | g.128537477G>T | CA360762654 | FBN2 | c.127C>A (p.Pro43Thr) n.747C>A | gnomAD v4 |
| 5 | g.128537478C>A | CA446308963 | FBN2 | c.126G>T (p.Pro42=) n.746G>T | gnomAD v4 |
| 5 | g.128537478C= | CA1581363548 | FBN2 | c.126G= (p.Pro42=) n.746G= | |
| 5 | g.128537478C>G | CA446308962 | FBN2 | c.126G>C (p.Pro42=) n.746G>C | |
| 5 | g.128537478C>T | CA3396218 | FBN2 | c.126G>A (p.Pro42=) n.746G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128537479G>A | CA324396 | FBN2 | c.125C>T (p.Pro42Leu) n.745C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128537479G>C | CA360762658 | FBN2 | c.125C>G (p.Pro42Arg) n.745C>G | |
| 5 | g.128537479G= | CA1581363549 | FBN2 | c.125C= (p.Pro42=) n.745C= | |
| 5 | g.128537479G>T | CA360762659 | FBN2 | c.125C>A (p.Pro42Gln) n.745C>A | |
| 5 | g.128537480G>A | CA360762669 | FBN2 | c.124C>T (p.Pro42Ser) n.744C>T | gnomAD v4 |
| 5 | g.128537480G>C | CA360762662 | FBN2 | c.124C>G (p.Pro42Ala) n.744C>G | |
| 5 | g.128537480G= | CA1581363550 | FBN2 | c.124C= (p.Pro42=) n.744C= | |
| 5 | g.128537480G>T | CA360762665 | FBN2 | c.124C>A (p.Pro42Thr) n.744C>A | dbSNP gnomAD v4 |
| 5 | g.128537481C>A | CA360762674 | FBN2 | c.123G>T (p.Gln41His) n.743G>T | gnomAD v4 |
| 5 | g.128537481C= | CA1581363551 | FBN2 | c.123G= (p.Gln41=) n.743G= | |
| 5 | g.128537481C>G | CA360762678 | FBN2 | c.123G>C (p.Gln41His) n.743G>C | |
| 5 | g.128537481C>T | CA446308964 | FBN2 | c.123G>A (p.Gln41=) n.743G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128537482T>A | CA360762679 | FBN2 | c.122A>T (p.Gln41Leu) n.742A>T | |
| 5 | g.128537482T>C | CA360762680 | FBN2 | c.122A>G (p.Gln41Arg) n.742A>G | gnomAD v4 |
| 5 | g.128537482T>G | CA360762683 | FBN2 | c.122A>C (p.Gln41Pro) n.742A>C | |
| 5 | g.128537483G>A | CA360762699 | FBN2 | c.121C>T (p.Gln41Ter) n.741C>T | gnomAD v4 |
| 5 | g.128537483G>C | CA127059013 | FBN2 | c.121C>G (p.Gln41Glu) n.741C>G | dbSNP gnomAD v2 |
| 5 | g.128537483G= | CA1581363552 | FBN2 | c.121C= (p.Gln41=) n.741C= | |
| 5 | g.128537483G>T | CA360762706 | FBN2 | c.121C>A (p.Gln41Lys) n.741C>A | gnomAD v4 |
| 5 | g.128537486del | CA2675122314 | FBN2 | c.121del (p.Gln41SerfsTer19) n.741del | gnomAD v4 |
| 5 | g.128537484G>A | CA446308965 | FBN2 | c.120C>T (p.Pro40=) n.740C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.128537484G>C | CA446308967 | FBN2 | c.120C>G (p.Pro40=) n.740C>G |