| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169529737T>A | CA343130555 | F5 | c.5290A>T (p.Met1764Leu) c.5305A>T (p.Met1769Leu) c.4879A>T (p.Met1627Leu) | |
| 1 | g.169529737T>C | CA1233528 | F5 | c.5290A>G (p.Met1764Val) c.5305A>G (p.Met1769Val) c.4879A>G (p.Met1627Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169529737T>G | CA343130558 | F5 | c.5290A>C (p.Met1764Leu) c.5305A>C (p.Met1769Leu) c.4879A>C (p.Met1627Leu) | |
| 1 | g.169529737T= | CA1139773084 | F5 | c.5290A= (p.Met1764=) c.5305A= (p.Met1769=) c.4879A= (p.Met1627=) | |
| 1 | g.169529738A>C | CA421737883 | F5 | c.5289T>G (p.Pro1763=) c.5304T>G (p.Pro1768=) c.4878T>G (p.Pro1626=) | |
| 1 | g.169529738A>G | CA421737882 | F5 | c.5289T>C (p.Pro1763=) c.5304T>C (p.Pro1768=) c.4878T>C (p.Pro1626=) | |
| 1 | g.169529738A>T | CA421737884 | F5 | c.5289T>A (p.Pro1763=) c.5304T>A (p.Pro1768=) c.4878T>A (p.Pro1626=) | |
| 1 | g.169529739G>A | CA343130572 | F5 | c.5288C>T (p.Pro1763Leu) c.5303C>T (p.Pro1768Leu) c.4877C>T (p.Pro1626Leu) | gnomAD v4 |
| 1 | g.169529739G>C | CA343130567 | F5 | c.5288C>G (p.Pro1763Arg) c.5303C>G (p.Pro1768Arg) c.4877C>G (p.Pro1626Arg) | |
| 1 | g.169529739G>T | CA343130568 | F5 | c.5288C>A (p.Pro1763His) c.5303C>A (p.Pro1768His) c.4877C>A (p.Pro1626His) | |
| 1 | g.169529740del | CA2574085084 | F5 | c.5288del (p.Pro1763LeufsTer4) c.5303del (p.Pro1768LeufsTer4) c.4877del (p.Pro1626LeufsTer4) | |
| 1 | g.169529740G>A | CA343130573 | F5 | c.5287C>T (p.Pro1763Ser) c.5302C>T (p.Pro1768Ser) c.4876C>T (p.Pro1626Ser) | |
| 1 | g.169529740G>C | CA343130574 | F5 | c.5287C>G (p.Pro1763Ala) c.5302C>G (p.Pro1768Ala) c.4876C>G (p.Pro1626Ala) | |
| 1 | g.169529740G>T | CA343130578 | F5 | c.5287C>A (p.Pro1763Thr) c.5302C>A (p.Pro1768Thr) c.4876C>A (p.Pro1626Thr) | |
| 1 | g.169529741C>A | CA343130587 | F5 | c.5286G>T (p.Met1762Ile) c.5301G>T (p.Met1767Ile) c.4875G>T (p.Met1625Ile) | gnomAD v4 |
| 1 | g.169529741C>G | CA343130594 | F5 | c.5286G>C (p.Met1762Ile) c.5301G>C (p.Met1767Ile) c.4875G>C (p.Met1625Ile) | |
| 1 | g.169529741C>T | CA343130598 | F5 | c.5286G>A (p.Met1762Ile) c.5301G>A (p.Met1767Ile) c.4875G>A (p.Met1625Ile) | |
| 1 | g.169529742A= | CA1144493846 | F5 | c.5285T= (p.Met1762=) c.5300T= (p.Met1767=) c.4874T= (p.Met1625=) | |
| 1 | g.169529742A>C | CA343130604 | F5 | c.5285T>G (p.Met1762Arg) c.5300T>G (p.Met1767Arg) c.4874T>G (p.Met1625Arg) | |
| 1 | g.169529742A>G | CA1233529 | F5 | c.5285T>C (p.Met1762Thr) c.5300T>C (p.Met1767Thr) c.4874T>C (p.Met1625Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169529742A>T | CA1233530 | F5 | c.5285T>A (p.Met1762Lys) c.5300T>A (p.Met1767Lys) c.4874T>A (p.Met1625Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 |
| 1 | g.169529743T>A | CA343130636 | F5 | c.5284A>T (p.Met1762Leu) c.5299A>T (p.Met1767Leu) c.4873A>T (p.Met1625Leu) | |
| 1 | g.169529743T>C | CA343130643 | F5 | c.5284A>G (p.Met1762Val) c.5299A>G (p.Met1767Val) c.4873A>G (p.Met1625Val) | dbSNP |
| 1 | g.169529743T>G | CA343130647 | F5 | c.5284A>C (p.Met1762Leu) c.5299A>C (p.Met1767Leu) c.4873A>C (p.Met1625Leu) | dbSNP |
| 1 | g.169529743T= | CA1206135835 | F5 | c.5284A= (p.Met1762=) c.5299A= (p.Met1767=) c.4873A= (p.Met1625=) | |
| 1 | g.169529744G>A | CA1233531 | F5 | c.5283C>T (p.Asn1761=) c.5298C>T (p.Asn1766=) c.4872C>T (p.Asn1624=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169529744G>C | CA343130656 | F5 | c.5283C>G (p.Asn1761Lys) c.5298C>G (p.Asn1766Lys) c.4872C>G (p.Asn1624Lys) | |
| 1 | g.169529744G= | CA1206135836 | F5 | c.5283C= (p.Asn1761=) c.5298C= (p.Asn1766=) c.4872C= (p.Asn1624=) | |
| 1 | g.169529744G>T | CA343130650 | F5 | c.5283C>A (p.Asn1761Lys) c.5298C>A (p.Asn1766Lys) c.4872C>A (p.Asn1624Lys) | |
| 1 | g.169529745T>A | CA343130658 | F5 | c.5282A>T (p.Asn1761Ile) c.5297A>T (p.Asn1766Ile) c.4871A>T (p.Asn1624Ile) | |
| 1 | g.169529745T>C | CA343130690 | F5 | c.5282A>G (p.Asn1761Ser) c.5297A>G (p.Asn1766Ser) c.4871A>G (p.Asn1624Ser) | |
| 1 | g.169529745T>G | CA343130659 | F5 | c.5282A>C (p.Asn1761Thr) c.5297A>C (p.Asn1766Thr) c.4871A>C (p.Asn1624Thr) | |
| 1 | g.169529746T>A | CA343130701 | F5 | c.5281A>T (p.Asn1761Tyr) c.5296A>T (p.Asn1766Tyr) c.4870A>T (p.Asn1624Tyr) | |
| 1 | g.169529746T>C | CA343130703 | F5 | c.5281A>G (p.Asn1761Asp) c.5296A>G (p.Asn1766Asp) c.4870A>G (p.Asn1624Asp) | |
| 1 | g.169529746T>G | CA343130705 | F5 | c.5281A>C (p.Asn1761His) c.5296A>C (p.Asn1766His) c.4870A>C (p.Asn1624His) | |
| 1 | g.169529747G>A | CA421737892 | F5 | c.5280C>T (p.Ser1760=) c.5295C>T (p.Ser1765=) c.4869C>T (p.Ser1623=) | |
| 1 | g.169529747G>C | CA343130710 | F5 | c.5280C>G (p.Ser1760Arg) c.5295C>G (p.Ser1765Arg) c.4869C>G (p.Ser1623Arg) | |
| 1 | g.169529747G>T | CA343130716 | F5 | c.5280C>A (p.Ser1760Arg) c.5295C>A (p.Ser1765Arg) c.4869C>A (p.Ser1623Arg) | |
| 1 | g.169529748C>A | CA343130721 | F5 | c.5279G>T (p.Ser1760Ile) c.5294G>T (p.Ser1765Ile) c.4868G>T (p.Ser1623Ile) | |
| 1 | g.169529748C>G | CA343130736 | F5 | c.5279G>C (p.Ser1760Thr) c.5294G>C (p.Ser1765Thr) c.4868G>C (p.Ser1623Thr) | COSMIC |
| 1 | g.169529748C>T | CA343130746 | F5 | c.5279G>A (p.Ser1760Asn) c.5294G>A (p.Ser1765Asn) c.4868G>A (p.Ser1623Asn) | |
| 1 | g.169529749T>A | CA343130750 | F5 | c.5278A>T (p.Ser1760Cys) c.5293A>T (p.Ser1765Cys) c.4867A>T (p.Ser1623Cys) | |
| 1 | g.169529749T>C | CA343130759 | F5 | c.5278A>G (p.Ser1760Gly) c.5293A>G (p.Ser1765Gly) c.4867A>G (p.Ser1623Gly) | |
| 1 | g.169529749T>G | CA343130762 | F5 | c.5278A>C (p.Ser1760Arg) c.5293A>C (p.Ser1765Arg) c.4867A>C (p.Ser1623Arg) | |
| 1 | g.169529750G>A | CA421737896 | F5 | c.5277C>T (p.Asp1759=) c.5292C>T (p.Asp1764=) c.4866C>T (p.Asp1622=) | |
| 1 | g.169529750G>C | CA343130771 | F5 | c.5277C>G (p.Asp1759Glu) c.5292C>G (p.Asp1764Glu) c.4866C>G (p.Asp1622Glu) | |
| 1 | g.169529750G>T | CA343130767 | F5 | c.5277C>A (p.Asp1759Glu) c.5292C>A (p.Asp1764Glu) c.4866C>A (p.Asp1622Glu) | |
| 1 | g.169529751T>A | CA343130772 | F5 | c.5276A>T (p.Asp1759Val) c.5291A>T (p.Asp1764Val) c.4865A>T (p.Asp1622Val) | |
| 1 | g.169529751T>C | CA343130773 | F5 | c.5276A>G (p.Asp1759Gly) c.5291A>G (p.Asp1764Gly) c.4865A>G (p.Asp1622Gly) | |
| 1 | g.169529751T>G | CA343130775 | F5 | c.5276A>C (p.Asp1759Ala) c.5291A>C (p.Asp1764Ala) c.4865A>C (p.Asp1622Ala) |