Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128300906G>A | CA3394502 | FBN2 | n.2861C>T n.2780C>T c.6077C>T (p.Ser2026Phe) c.6074C>T (p.Ser2025Phe) c.5924C>T (p.Ser1975Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300906G>C | CA360766549 | FBN2 | n.2861C>G n.2780C>G c.6077C>G (p.Ser2026Cys) c.6074C>G (p.Ser2025Cys) c.5924C>G (p.Ser1975Cys) | |
5 | g.128300906G= | CA1581253481 | FBN2 | n.2861C= n.2780C= c.6077C= (p.Ser2026=) c.6074C= (p.Ser2025=) c.5924C= (p.Ser1975=) | |
5 | g.128300906G>T | CA360766551 | FBN2 | n.2861C>A n.2780C>A c.6077C>A (p.Ser2026Tyr) c.6074C>A (p.Ser2025Tyr) c.5924C>A (p.Ser1975Tyr) | |
5 | g.128300907A>C | CA360766557 | FBN2 | n.2860T>G n.2779T>G c.6076T>G (p.Ser2026Ala) c.6073T>G (p.Ser2025Ala) c.5923T>G (p.Ser1975Ala) | |
5 | g.128300907A>G | CA360766555 | FBN2 | n.2860T>C n.2779T>C c.6076T>C (p.Ser2026Pro) c.6073T>C (p.Ser2025Pro) c.5923T>C (p.Ser1975Pro) | |
5 | g.128300907A>T | CA360766553 | FBN2 | n.2860T>A n.2779T>A c.6076T>A (p.Ser2026Thr) c.6073T>A (p.Ser2025Thr) c.5923T>A (p.Ser1975Thr) | |
5 | g.128300908G>A | CA446309283 | FBN2 | n.2859C>T n.2778C>T c.6075C>T (p.Gly2025=) c.6072C>T (p.Gly2024=) c.5922C>T (p.Gly1974=) | ClinVar gnomAD v4 |
5 | g.128300908G>C | CA446309284 | FBN2 | n.2859C>G n.2778C>G c.6075C>G (p.Gly2025=) c.6072C>G (p.Gly2024=) c.5922C>G (p.Gly1974=) | |
5 | g.128300908G>T | CA446309285 | FBN2 | n.2859C>A n.2778C>A c.6075C>A (p.Gly2025=) c.6072C>A (p.Gly2024=) c.5922C>A (p.Gly1974=) | gnomAD v4 COSMIC COSMIC |
5 | g.128300909C>A | CA360766559 | FBN2 | n.2858G>T n.2777G>T c.6074G>T (p.Gly2025Val) c.6071G>T (p.Gly2024Val) c.5921G>T (p.Gly1974Val) | |
5 | g.128300909C= | CA1581253482 | FBN2 | n.2858G= n.2777G= c.6074G= (p.Gly2025=) c.6071G= (p.Gly2024=) c.5921G= (p.Gly1974=) | |
5 | g.128300909C>G | CA360766560 | FBN2 | n.2858G>C n.2777G>C c.6074G>C (p.Gly2025Ala) c.6071G>C (p.Gly2024Ala) c.5921G>C (p.Gly1974Ala) | |
5 | g.128300909C>T | CA3394503 | FBN2 | n.2858G>A n.2777G>A c.6074G>A (p.Gly2025Asp) c.6071G>A (p.Gly2024Asp) c.5921G>A (p.Gly1974Asp) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.128300910C>A | CA360766563 | FBN2 | n.2857G>T n.2776G>T c.6073G>T (p.Gly2025Cys) c.6070G>T (p.Gly2024Cys) c.5920G>T (p.Gly1974Cys) | |
5 | g.128300910C= | CA1581253483 | FBN2 | n.2857G= n.2776G= c.6073G= (p.Gly2025=) c.6070G= (p.Gly2024=) c.5920G= (p.Gly1974=) | |
5 | g.128300910C>G | CA360766564 | FBN2 | n.2857G>C n.2776G>C c.6073G>C (p.Gly2025Arg) c.6070G>C (p.Gly2024Arg) c.5920G>C (p.Gly1974Arg) | |
5 | g.128300910C>T | CA320255 | FBN2 | n.2857G>A n.2776G>A c.6073G>A (p.Gly2025Ser) c.6070G>A (p.Gly2024Ser) c.5920G>A (p.Gly1974Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300911G>A | CA3394504 | FBN2 | n.2856C>T n.2775C>T c.6072C>T (p.Pro2024=) c.6069C>T (p.Pro2023=) c.5919C>T (p.Pro1973=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300911G>C | CA446309287 | FBN2 | n.2856C>G n.2775C>G c.6072C>G (p.Pro2024=) c.6069C>G (p.Pro2023=) c.5919C>G (p.Pro1973=) | |
5 | g.128300911G= | CA1581253484 | FBN2 | n.2856C= n.2775C= c.6072C= (p.Pro2024=) c.6069C= (p.Pro2023=) c.5919C= (p.Pro1973=) | |
5 | g.128300911G>T | CA446309288 | FBN2 | n.2856C>A n.2775C>A c.6072C>A (p.Pro2024=) c.6069C>A (p.Pro2023=) c.5919C>A (p.Pro1973=) | |
5 | g.128300912G>A | CA360766568 | FBN2 | n.2855C>T n.2774C>T c.6071C>T (p.Pro2024Leu) c.6068C>T (p.Pro2023Leu) c.5918C>T (p.Pro1973Leu) | COSMIC COSMIC |
5 | g.128300912G>C | CA360766569 | FBN2 | n.2855C>G n.2774C>G c.6071C>G (p.Pro2024Arg) c.6068C>G (p.Pro2023Arg) c.5918C>G (p.Pro1973Arg) | |
5 | g.128300912G= | CA1581253485 | FBN2 | n.2855C= n.2774C= c.6071C= (p.Pro2024=) c.6068C= (p.Pro2023=) c.5918C= (p.Pro1973=) | |
5 | g.128300912G>T | CA3394505 | FBN2 | n.2855C>A n.2774C>A c.6071C>A (p.Pro2024His) c.6068C>A (p.Pro2023His) c.5918C>A (p.Pro1973His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128300913G>A | CA360766572 | FBN2 | n.2854C>T n.2773C>T c.6070C>T (p.Pro2024Ser) c.6067C>T (p.Pro2023Ser) c.5917C>T (p.Pro1973Ser) | |
5 | g.128300913G>C | CA360766573 | FBN2 | n.2854C>G n.2773C>G c.6070C>G (p.Pro2024Ala) c.6067C>G (p.Pro2023Ala) c.5917C>G (p.Pro1973Ala) | |
5 | g.128300913G>T | CA360766574 | FBN2 | n.2854C>A n.2773C>A c.6070C>A (p.Pro2024Thr) c.6067C>A (p.Pro2023Thr) c.5917C>A (p.Pro1973Thr) | |
5 | g.128300914A>C | CA446309289 | FBN2 | n.2853T>G n.2772T>G c.6069T>G (p.Leu2023=) c.6066T>G (p.Leu2022=) c.5916T>G (p.Leu1972=) | |
5 | g.128300914A>G | CA446309290 | FBN2 | n.2853T>C n.2772T>C c.6069T>C (p.Leu2023=) c.6066T>C (p.Leu2022=) c.5916T>C (p.Leu1972=) | |
5 | g.128300914A>T | CA446309291 | FBN2 | n.2853T>A n.2772T>A c.6069T>A (p.Leu2023=) c.6066T>A (p.Leu2022=) c.5916T>A (p.Leu1972=) | |
5 | g.128300915A>C | CA360766578 | FBN2 | n.2852T>G n.2771T>G c.6068T>G (p.Leu2023Arg) c.6065T>G (p.Leu2022Arg) c.5915T>G (p.Leu1972Arg) | |
5 | g.128300915A>G | CA360766581 | FBN2 | n.2852T>C n.2771T>C c.6068T>C (p.Leu2023Pro) c.6065T>C (p.Leu2022Pro) c.5915T>C (p.Leu1972Pro) | |
5 | g.128300915A>T | CA360766576 | FBN2 | n.2852T>A n.2771T>A c.6068T>A (p.Leu2023His) c.6065T>A (p.Leu2022His) c.5915T>A (p.Leu1972His) | |
5 | g.128300916G>A | CA360766583 | FBN2 | n.2851C>T n.2770C>T c.6067C>T (p.Leu2023Phe) c.6064C>T (p.Leu2022Phe) c.5914C>T (p.Leu1972Phe) | gnomAD v4 |
5 | g.128300916G>C | CA360766582 | FBN2 | n.2851C>G n.2770C>G c.6067C>G (p.Leu2023Val) c.6064C>G (p.Leu2022Val) c.5914C>G (p.Leu1972Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128300916G= | CA1581253486 | FBN2 | n.2851C= n.2770C= c.6067C= (p.Leu2023=) c.6064C= (p.Leu2022=) c.5914C= (p.Leu1972=) | |
5 | g.128300916G>T | CA3394506 | FBN2 | n.2851C>A n.2770C>A c.6067C>A (p.Leu2023Ile) c.6064C>A (p.Leu2022Ile) c.5914C>A (p.Leu1972Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128300917G>A | CA446309296 | FBN2 | n.2850C>T n.2769C>T c.6066C>T (p.Ala2022=) c.6063C>T (p.Ala2021=) c.5913C>T (p.Ala1971=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128300917G>C | CA446309297 | FBN2 | n.2850C>G n.2769C>G c.6066C>G (p.Ala2022=) c.6063C>G (p.Ala2021=) c.5913C>G (p.Ala1971=) | |
5 | g.128300917G= | CA1581253487 | FBN2 | n.2850C= n.2769C= c.6066C= (p.Ala2022=) c.6063C= (p.Ala2021=) c.5913C= (p.Ala1971=) | |
5 | g.128300917G>T | CA446309298 | FBN2 | n.2850C>A n.2769C>A c.6066C>A (p.Ala2022=) c.6063C>A (p.Ala2021=) c.5913C>A (p.Ala1971=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128300918G>A | CA360766584 | FBN2 | n.2849C>T n.2768C>T c.6065C>T (p.Ala2022Val) c.6062C>T (p.Ala2021Val) c.5912C>T (p.Ala1971Val) | gnomAD v4 |
5 | g.128300918G>C | CA360766586 | FBN2 | n.2849C>G n.2768C>G c.6065C>G (p.Ala2022Gly) c.6062C>G (p.Ala2021Gly) c.5912C>G (p.Ala1971Gly) | |
5 | g.128300918G>T | CA360766585 | FBN2 | n.2849C>A n.2768C>A c.6065C>A (p.Ala2022Asp) c.6062C>A (p.Ala2021Asp) c.5912C>A (p.Ala1971Asp) | |
5 | g.128300919C>A | CA360766587 | FBN2 | n.2848G>T n.2767G>T c.6064G>T (p.Ala2022Ser) c.6061G>T (p.Ala2021Ser) c.5911G>T (p.Ala1971Ser) | |
5 | g.128300919C= | CA1581253488 | FBN2 | n.2848G= n.2767G= c.6064G= (p.Ala2022=) c.6061G= (p.Ala2021=) c.5911G= (p.Ala1971=) | |
5 | g.128300919C>G | CA360766588 | FBN2 | n.2848G>C n.2767G>C c.6064G>C (p.Ala2022Pro) c.6061G>C (p.Ala2021Pro) c.5911G>C (p.Ala1971Pro) | |
5 | g.128300919C>T | CA3394507 | FBN2 | n.2848G>A n.2767G>A c.6064G>A (p.Ala2022Thr) c.6061G>A (p.Ala2021Thr) c.5911G>A (p.Ala1971Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |