Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135817463T>A | CA348605839 | LCT | c.1585A>T (p.Thr529Ser) | |
2 | g.135817463T>C | CA1888372 | LCT | c.1585A>G (p.Thr529Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135817463T>G | CA348605840 | LCT | c.1585A>C (p.Thr529Pro) | |
2 | g.135817463T= | CA1290834795 | LCT | c.1585A= (p.Thr529=) | |
2 | g.135817464G>A | CA429204541 | LCT | c.1584C>T (p.Ser528=) | |
2 | g.135817464G>C | CA429204542 | LCT | c.1584C>G (p.Ser528=) | |
2 | g.135817464G>T | CA429204543 | LCT | c.1584C>A (p.Ser528=) | |
2 | g.135817465G>A | CA348605841 | LCT | c.1583C>T (p.Ser528Phe) | |
2 | g.135817465G>C | CA348605842 | LCT | c.1583C>G (p.Ser528Cys) | |
2 | g.135817465G>T | CA348605843 | LCT | c.1583C>A (p.Ser528Tyr) | |
2 | g.135817466A>C | CA348605844 | LCT | c.1582T>G (p.Ser528Ala) | |
2 | g.135817466A>G | CA348605845 | LCT | c.1582T>C (p.Ser528Pro) | |
2 | g.135817466A>T | CA348605846 | LCT | c.1582T>A (p.Ser528Thr) | |
2 | g.135817467G>A | CA429204544 | LCT | c.1581C>T (p.Phe527=) | |
2 | g.135817467G>C | CA348605847 | LCT | c.1581C>G (p.Phe527Leu) | |
2 | g.135817467G>T | CA348605848 | LCT | c.1581C>A (p.Phe527Leu) | |
2 | g.135817468A>C | CA348605851 | LCT | c.1580T>G (p.Phe527Cys) | |
2 | g.135817468A>G | CA348605850 | LCT | c.1580T>C (p.Phe527Ser) | |
2 | g.135817468A>T | CA348605849 | LCT | c.1580T>A (p.Phe527Tyr) | |
2 | g.135817469A>C | CA348605852 | LCT | c.1579T>G (p.Phe527Val) | |
2 | g.135817469A>G | CA348605853 | LCT | c.1579T>C (p.Phe527Leu) | |
2 | g.135817469A>T | CA348605854 | LCT | c.1579T>A (p.Phe527Ile) | |
2 | g.135817470G>A | CA429204545 | LCT | c.1578C>T (p.Cys526=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135817470G>C | CA348605855 | LCT | c.1578C>G (p.Cys526Trp) | |
2 | g.135817470G= | CA1290834796 | LCT | c.1578C= (p.Cys526=) | |
2 | g.135817470G>T | CA348605856 | LCT | c.1578C>A (p.Cys526Ter) | |
2 | g.135817471C>A | CA348605857 | LCT | c.1577G>T (p.Cys526Phe) | |
2 | g.135817471C>G | CA348605858 | LCT | c.1577G>C (p.Cys526Ser) | |
2 | g.135817471C>T | CA348605859 | LCT | c.1577G>A (p.Cys526Tyr) | |
2 | g.135817472A>C | CA348605860 | LCT | c.1576T>G (p.Cys526Gly) | |
2 | g.135817472A>G | CA348605861 | LCT | c.1576T>C (p.Cys526Arg) | |
2 | g.135817472A>T | CA348605862 | LCT | c.1576T>A (p.Cys526Ser) | |
2 | g.135817473G>A | CA429204546 | LCT | c.1575C>T (p.Phe525=) | |
2 | g.135817473G>C | CA348605863 | LCT | c.1575C>G (p.Phe525Leu) | |
2 | g.135817473G= | CA1290834797 | LCT | c.1575C= (p.Phe525=) | |
2 | g.135817473G>T | CA56623416 | LCT | c.1575C>A (p.Phe525Leu) | dbSNP gnomAD v4 |
2 | g.135817474A>C | CA348605866 | LCT | c.1574T>G (p.Phe525Cys) | |
2 | g.135817474A>G | CA348605864 | LCT | c.1574T>C (p.Phe525Ser) | |
2 | g.135817474A>T | CA348605865 | LCT | c.1574T>A (p.Phe525Tyr) | |
2 | g.135817475A>C | CA348605867 | LCT | c.1573T>G (p.Phe525Val) | |
2 | g.135817475A>G | CA348605868 | LCT | c.1573T>C (p.Phe525Leu) | |
2 | g.135817475A>T | CA348605869 | LCT | c.1573T>A (p.Phe525Ile) | |
2 | g.135817476G>A | CA429204547 | LCT | c.1572C>T (p.Ala524=) | |
2 | g.135817476G>C | CA429204548 | LCT | c.1572C>G (p.Ala524=) | |
2 | g.135817476G>T | CA429204549 | LCT | c.1572C>A (p.Ala524=) | |
2 | g.135817477G>A | CA348605870 | LCT | c.1571C>T (p.Ala524Val) | |
2 | g.135817477G>C | CA348605871 | LCT | c.1571C>G (p.Ala524Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135817477G= | CA1290834798 | LCT | c.1571C= (p.Ala524=) | |
2 | g.135817477G>T | CA348605872 | LCT | c.1571C>A (p.Ala524Asp) | dbSNP |
2 | g.135817478C>A | CA348605873 | LCT | c.1570G>T (p.Ala524Ser) |