| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.215376612A= | CA1327346881 | FN1 | c.5773T= (p.Trp1925=) c.5500T= (p.Trp1834=) c.5230T= (p.Trp1744=) c.5503T= (p.Trp1835=) c.1651T= (p.Trp551=) n.858T= n.6910T= n.132+3075A= | |
| 2 | g.215376612A>C | CA350471585 | FN1 | c.5773T>G (p.Trp1925Gly) c.5500T>G (p.Trp1834Gly) c.5230T>G (p.Trp1744Gly) c.5503T>G (p.Trp1835Gly) c.1651T>G (p.Trp551Gly) n.858T>G n.6910T>G n.132+3075A>C | |
| 2 | g.215376612A>G | CA350471586 | FN1 | c.5773T>C (p.Trp1925Arg) c.5500T>C (p.Trp1834Arg) c.5230T>C (p.Trp1744Arg) c.5503T>C (p.Trp1835Arg) c.1651T>C (p.Trp551Arg) n.858T>C n.6910T>C n.132+3075A>G | gnomAD v4 |
| 2 | g.215376612A>T | CA126364 | FN1 | c.5773T>A (p.Trp1925Arg) c.5500T>A (p.Trp1834Arg) c.5230T>A (p.Trp1744Arg) c.5503T>A (p.Trp1835Arg) c.1651T>A (p.Trp551Arg) n.858T>A n.6910T>A n.132+3075A>T | ClinVar dbSNP |
| 2 | g.215376613G>A | CA431155008 | FN1 | c.5772C>T (p.Ser1924=) c.5499C>T (p.Ser1833=) c.5229C>T (p.Ser1743=) c.5502C>T (p.Ser1834=) c.1650C>T (p.Ser550=) n.857C>T n.6909C>T n.132+3076G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.215376613G>C | CA350471587 | FN1 | c.5772C>G (p.Ser1924Arg) c.5499C>G (p.Ser1833Arg) c.5229C>G (p.Ser1743Arg) c.5502C>G (p.Ser1834Arg) c.1650C>G (p.Ser550Arg) n.857C>G n.6909C>G n.132+3076G>C | gnomAD v4 |
| 2 | g.215376613G= | CA1327346882 | FN1 | c.5772C= (p.Ser1924=) c.5499C= (p.Ser1833=) c.5229C= (p.Ser1743=) c.5502C= (p.Ser1834=) c.1650C= (p.Ser550=) n.857C= n.6909C= n.132+3076G= | |
| 2 | g.215376613G>T | CA350471589 | FN1 | c.5772C>A (p.Ser1924Arg) c.5499C>A (p.Ser1833Arg) c.5229C>A (p.Ser1743Arg) c.5502C>A (p.Ser1834Arg) c.1650C>A (p.Ser550Arg) n.857C>A n.6909C>A n.132+3076G>T | |
| 2 | g.215376614C>A | CA350471590 | FN1 | c.5771G>T (p.Ser1924Ile) c.5498G>T (p.Ser1833Ile) c.5228G>T (p.Ser1743Ile) c.5501G>T (p.Ser1834Ile) c.1649G>T (p.Ser550Ile) n.856G>T n.6908G>T n.132+3077C>A | |
| 2 | g.215376614C>G | CA350471593 | FN1 | c.5771G>C (p.Ser1924Thr) c.5498G>C (p.Ser1833Thr) c.5228G>C (p.Ser1743Thr) c.5501G>C (p.Ser1834Thr) c.1649G>C (p.Ser550Thr) n.856G>C n.6908G>C n.132+3077C>G | |
| 2 | g.215376614C>T | CA350471591 | FN1 | c.5771G>A (p.Ser1924Asn) c.5498G>A (p.Ser1833Asn) c.5228G>A (p.Ser1743Asn) c.5501G>A (p.Ser1834Asn) c.1649G>A (p.Ser550Asn) n.856G>A n.6908G>A n.132+3077C>T | |
| 2 | g.215376615T>A | CA350471598 | FN1 | c.5770A>T (p.Ser1924Cys) c.5497A>T (p.Ser1833Cys) c.5227A>T (p.Ser1743Cys) c.5500A>T (p.Ser1834Cys) c.1648A>T (p.Ser550Cys) n.855A>T n.6907A>T n.132+3078T>A | |
| 2 | g.215376615T>C | CA350471599 | FN1 | c.5770A>G (p.Ser1924Gly) c.5497A>G (p.Ser1833Gly) c.5227A>G (p.Ser1743Gly) c.5500A>G (p.Ser1834Gly) c.1648A>G (p.Ser550Gly) n.855A>G n.6907A>G n.132+3078T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.215376615T>G | CA350471600 | FN1 | c.5770A>C (p.Ser1924Arg) c.5497A>C (p.Ser1833Arg) c.5227A>C (p.Ser1743Arg) c.5500A>C (p.Ser1834Arg) c.1648A>C (p.Ser550Arg) n.855A>C n.6907A>C n.132+3078T>G | |
| 2 | g.215376615T= | CA1327346883 | FN1 | c.5770A= (p.Ser1924=) c.5497A= (p.Ser1833=) c.5227A= (p.Ser1743=) c.5500A= (p.Ser1834=) c.1648A= (p.Ser550=) n.855A= n.6907A= n.132+3078T= | |
| 2 | g.215376616A= | CA1327346884 | FN1 | c.5769T= (p.Ile1923=) c.5496T= (p.Ile1832=) c.5226T= (p.Ile1742=) c.5499T= (p.Ile1833=) c.1647T= (p.Ile549=) n.854T= n.6906T= n.132+3079A= | |
| 2 | g.215376616A>C | CA350471602 | FN1 | c.5769T>G (p.Ile1923Met) c.5496T>G (p.Ile1832Met) c.5226T>G (p.Ile1742Met) c.5499T>G (p.Ile1833Met) c.1647T>G (p.Ile549Met) n.854T>G n.6906T>G n.132+3079A>C | dbSNP gnomAD v4 |
| 2 | g.215376616A>G | CA431155009 | FN1 | c.5769T>C (p.Ile1923=) c.5496T>C (p.Ile1832=) c.5226T>C (p.Ile1742=) c.5499T>C (p.Ile1833=) c.1647T>C (p.Ile549=) n.854T>C n.6906T>C n.132+3079A>G | ClinVar gnomAD v4 |
| 2 | g.215376616A>T | CA431155010 | FN1 | c.5769T>A (p.Ile1923=) c.5496T>A (p.Ile1832=) c.5226T>A (p.Ile1742=) c.5499T>A (p.Ile1833=) c.1647T>A (p.Ile549=) n.854T>A n.6906T>A n.132+3079A>T | |
| 2 | g.215376617A>C | CA350471604 | FN1 | c.5768T>G (p.Ile1923Ser) c.5495T>G (p.Ile1832Ser) c.5225T>G (p.Ile1742Ser) c.5498T>G (p.Ile1833Ser) c.1646T>G (p.Ile549Ser) n.853T>G n.6905T>G n.132+3080A>C | |
| 2 | g.215376617A>G | CA350471606 | FN1 | c.5768T>C (p.Ile1923Thr) c.5495T>C (p.Ile1832Thr) c.5225T>C (p.Ile1742Thr) c.5498T>C (p.Ile1833Thr) c.1646T>C (p.Ile549Thr) n.853T>C n.6905T>C n.132+3080A>G | gnomAD v4 |
| 2 | g.215376617A>T | CA350471608 | FN1 | c.5768T>A (p.Ile1923Asn) c.5495T>A (p.Ile1832Asn) c.5225T>A (p.Ile1742Asn) c.5498T>A (p.Ile1833Asn) c.1646T>A (p.Ile549Asn) n.853T>A n.6905T>A n.132+3080A>T | |
| 2 | g.215376618T>A | CA350471613 | FN1 | c.5767A>T (p.Ile1923Phe) c.5494A>T (p.Ile1832Phe) c.5224A>T (p.Ile1742Phe) c.5497A>T (p.Ile1833Phe) c.1645A>T (p.Ile549Phe) n.852A>T n.6904A>T n.132+3081T>A | |
| 2 | g.215376618T>C | CA350471615 | FN1 | c.5767A>G (p.Ile1923Val) c.5494A>G (p.Ile1832Val) c.5224A>G (p.Ile1742Val) c.5497A>G (p.Ile1833Val) c.1645A>G (p.Ile549Val) n.852A>G n.6904A>G n.132+3081T>C | gnomAD v4 |
| 2 | g.215376618T>G | CA350471618 | FN1 | c.5767A>C (p.Ile1923Leu) c.5494A>C (p.Ile1832Leu) c.5224A>C (p.Ile1742Leu) c.5497A>C (p.Ile1833Leu) c.1645A>C (p.Ile549Leu) n.852A>C n.6904A>C n.132+3081T>G | |
| 2 | g.215376619G>A | CA431155011 | FN1 | c.5766C>T (p.Thr1922=) c.5493C>T (p.Thr1831=) c.5223C>T (p.Thr1741=) c.5496C>T (p.Thr1832=) c.1644C>T (p.Thr548=) n.851C>T n.6903C>T n.132+3082G>A | |
| 2 | g.215376619G>C | CA431155012 | FN1 | c.5766C>G (p.Thr1922=) c.5493C>G (p.Thr1831=) c.5223C>G (p.Thr1741=) c.5496C>G (p.Thr1832=) c.1644C>G (p.Thr548=) n.851C>G n.6903C>G n.132+3082G>C | |
| 2 | g.215376619G>T | CA431155013 | FN1 | c.5766C>A (p.Thr1922=) c.5493C>A (p.Thr1831=) c.5223C>A (p.Thr1741=) c.5496C>A (p.Thr1832=) c.1644C>A (p.Thr548=) n.851C>A n.6903C>A n.132+3082G>T | |
| 2 | g.215376620G>A | CA350471623 | FN1 | c.5765C>T (p.Thr1922Ile) c.5492C>T (p.Thr1831Ile) c.5222C>T (p.Thr1741Ile) c.5495C>T (p.Thr1832Ile) c.1643C>T (p.Thr548Ile) n.850C>T n.6902C>T n.132+3083G>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.215376620G>C | CA350471624 | FN1 | c.5765C>G (p.Thr1922Ser) c.5492C>G (p.Thr1831Ser) c.5222C>G (p.Thr1741Ser) c.5495C>G (p.Thr1832Ser) c.1643C>G (p.Thr548Ser) n.850C>G n.6902C>G n.132+3083G>C | |
| 2 | g.215376620G= | CA1327346885 | FN1 | c.5765C= (p.Thr1922=) c.5492C= (p.Thr1831=) c.5222C= (p.Thr1741=) c.5495C= (p.Thr1832=) c.1643C= (p.Thr548=) n.850C= n.6902C= n.132+3083G= | |
| 2 | g.215376620G>T | CA2094034 | FN1 | c.5765C>A (p.Thr1922Asn) c.5492C>A (p.Thr1831Asn) c.5222C>A (p.Thr1741Asn) c.5495C>A (p.Thr1832Asn) c.1643C>A (p.Thr548Asn) n.850C>A n.6902C>A n.132+3083G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.215376621T>A | CA350471630 | FN1 | c.5764A>T (p.Thr1922Ser) c.5491A>T (p.Thr1831Ser) c.5221A>T (p.Thr1741Ser) c.5494A>T (p.Thr1832Ser) c.1642A>T (p.Thr548Ser) n.849A>T n.6901A>T n.132+3084T>A | |
| 2 | g.215376621T>C | CA350471627 | FN1 | c.5764A>G (p.Thr1922Ala) c.5491A>G (p.Thr1831Ala) c.5221A>G (p.Thr1741Ala) c.5494A>G (p.Thr1832Ala) c.1642A>G (p.Thr548Ala) n.849A>G n.6901A>G n.132+3084T>C | |
| 2 | g.215376621T>G | CA350471628 | FN1 | c.5764A>C (p.Thr1922Pro) c.5491A>C (p.Thr1831Pro) c.5221A>C (p.Thr1741Pro) c.5494A>C (p.Thr1832Pro) c.1642A>C (p.Thr548Pro) n.849A>C n.6901A>C n.132+3084T>G | |
| 2 | g.215376622G>A | CA431155014 | FN1 | c.5763C>T (p.Ile1921=) c.5490C>T (p.Ile1830=) c.5220C>T (p.Ile1740=) c.5493C>T (p.Ile1831=) c.1641C>T (p.Ile547=) n.848C>T n.6900C>T n.132+3085G>A | |
| 2 | g.215376622G>C | CA350471632 | FN1 | c.5763C>G (p.Ile1921Met) c.5490C>G (p.Ile1830Met) c.5220C>G (p.Ile1740Met) c.5493C>G (p.Ile1831Met) c.1641C>G (p.Ile547Met) n.848C>G n.6900C>G n.132+3085G>C | |
| 2 | g.215376622G>T | CA431155015 | FN1 | c.5763C>A (p.Ile1921=) c.5490C>A (p.Ile1830=) c.5220C>A (p.Ile1740=) c.5493C>A (p.Ile1831=) c.1641C>A (p.Ile547=) n.848C>A n.6900C>A n.132+3085G>T | |
| 2 | g.215376623A>C | CA350471633 | FN1 | c.5762T>G (p.Ile1921Ser) c.5489T>G (p.Ile1830Ser) c.5219T>G (p.Ile1740Ser) c.5492T>G (p.Ile1831Ser) c.1640T>G (p.Ile547Ser) n.847T>G n.6899T>G n.132+3086A>C | |
| 2 | g.215376623A>G | CA350471634 | FN1 | c.5762T>C (p.Ile1921Thr) c.5489T>C (p.Ile1830Thr) c.5219T>C (p.Ile1740Thr) c.5492T>C (p.Ile1831Thr) c.1640T>C (p.Ile547Thr) n.847T>C n.6899T>C n.132+3086A>G | |
| 2 | g.215376623A>T | CA350471635 | FN1 | c.5762T>A (p.Ile1921Asn) c.5489T>A (p.Ile1830Asn) c.5219T>A (p.Ile1740Asn) c.5492T>A (p.Ile1831Asn) c.1640T>A (p.Ile547Asn) n.847T>A n.6899T>A n.132+3086A>T | |
| 2 | g.215376624T>A | CA2094035 | FN1 | c.5761A>T (p.Ile1921Phe) c.5488A>T (p.Ile1830Phe) c.5218A>T (p.Ile1740Phe) c.5491A>T (p.Ile1831Phe) c.1639A>T (p.Ile547Phe) n.846A>T n.6898A>T n.132+3087T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.215376624T>C | CA64850099 | FN1 | c.5761A>G (p.Ile1921Val) c.5488A>G (p.Ile1830Val) c.5218A>G (p.Ile1740Val) c.5491A>G (p.Ile1831Val) c.1639A>G (p.Ile547Val) n.846A>G n.6898A>G n.132+3087T>C | dbSNP gnomAD v4 |
| 2 | g.215376624T>G | CA350471640 | FN1 | c.5761A>C (p.Ile1921Leu) c.5488A>C (p.Ile1830Leu) c.5218A>C (p.Ile1740Leu) c.5491A>C (p.Ile1831Leu) c.1639A>C (p.Ile547Leu) n.846A>C n.6898A>C n.132+3087T>G | |
| 2 | g.215376624T= | CA1327346886 | FN1 | c.5761A= (p.Ile1921=) c.5488A= (p.Ile1830=) c.5218A= (p.Ile1740=) c.5491A= (p.Ile1831=) c.1639A= (p.Ile547=) n.846A= n.6898A= n.132+3087T= | |
| 2 | g.215376625G>A | CA431155016 | FN1 | c.5760C>T (p.Thr1920=) c.5487C>T (p.Thr1829=) c.5217C>T (p.Thr1739=) c.5490C>T (p.Thr1830=) c.1638C>T (p.Thr546=) n.845C>T n.6897C>T n.132+3088G>A | |
| 2 | g.215376625G>C | CA431155017 | FN1 | c.5760C>G (p.Thr1920=) c.5487C>G (p.Thr1829=) c.5217C>G (p.Thr1739=) c.5490C>G (p.Thr1830=) c.1638C>G (p.Thr546=) n.845C>G n.6897C>G n.132+3088G>C | |
| 2 | g.215376625G>T | CA431155018 | FN1 | c.5760C>A (p.Thr1920=) c.5487C>A (p.Thr1829=) c.5217C>A (p.Thr1739=) c.5490C>A (p.Thr1830=) c.1638C>A (p.Thr546=) n.845C>A n.6897C>A n.132+3088G>T | COSMIC COSMIC |
| 2 | g.215376626G>A | CA350471642 | FN1 | c.5759C>T (p.Thr1920Ile) c.5486C>T (p.Thr1829Ile) c.5216C>T (p.Thr1739Ile) c.5489C>T (p.Thr1830Ile) c.1637C>T (p.Thr546Ile) n.844C>T n.6896C>T n.132+3089G>A | |
| 2 | g.215376626G>C | CA350471644 | FN1 | c.5759C>G (p.Thr1920Ser) c.5486C>G (p.Thr1829Ser) c.5216C>G (p.Thr1739Ser) c.5489C>G (p.Thr1830Ser) c.1637C>G (p.Thr546Ser) n.844C>G n.6896C>G n.132+3089G>C |