Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.32640244C>ACA2026264524FGD4c.2044-32C>A (n.2044-32C>A)
c.2299-32C>A (n.2299-32C>A)
c.1765-32C>A (n.1765-32C>A)
c.856-32C>A (n.856-32C>A)
n.842-32C>A
c.2455-32C>A (n.2455-32C>A)
c.*1455-32C>A (n.*1455-32C>A)
c.1932-32C>A
c.2380-32C>A (n.2380-32C>A)
c.*1413-32C>A (n.*1413-32C>A)
c.1012-32C>A (n.1012-32C>A)
c.2536-32C>A (n.2536-32C>A)
c.1300-32C>A (n.1300-32C>A)
c.2338-32C>A (n.2338-32C>A)
c.1492-32C>A (n.1492-32C>A)
c.1447-32C>A (n.1447-32C>A)
c.1279-32C>A (n.1279-32C>A)
c.1153-32C>A (n.1153-32C>A)
 dbSNP gnomAD v4
12g.32640244C=CA2026264523FGD4c.2044-32C= (n.2044-32C=)
c.2299-32C= (n.2299-32C=)
c.1765-32C= (n.1765-32C=)
c.856-32C= (n.856-32C=)
n.842-32C=
c.2455-32C= (n.2455-32C=)
c.*1455-32C= (n.*1455-32C=)
c.1932-32C=
c.2380-32C= (n.2380-32C=)
c.*1413-32C= (n.*1413-32C=)
c.1012-32C= (n.1012-32C=)
c.2536-32C= (n.2536-32C=)
c.1300-32C= (n.1300-32C=)
c.2338-32C= (n.2338-32C=)
c.1492-32C= (n.1492-32C=)
c.1447-32C= (n.1447-32C=)
c.1279-32C= (n.1279-32C=)
c.1153-32C= (n.1153-32C=)
12g.32640244C>TCA946297828FGD4c.2044-32C>T (n.2044-32C>T)
c.2299-32C>T (n.2299-32C>T)
c.1765-32C>T (n.1765-32C>T)
c.856-32C>T (n.856-32C>T)
n.842-32C>T
c.2455-32C>T (n.2455-32C>T)
c.*1455-32C>T (n.*1455-32C>T)
c.1932-32C>T
c.2380-32C>T (n.2380-32C>T)
c.*1413-32C>T (n.*1413-32C>T)
c.1012-32C>T (n.1012-32C>T)
c.2536-32C>T (n.2536-32C>T)
c.1300-32C>T (n.1300-32C>T)
c.2338-32C>T (n.2338-32C>T)
c.1492-32C>T (n.1492-32C>T)
c.1447-32C>T (n.1447-32C>T)
c.1279-32C>T (n.1279-32C>T)
c.1153-32C>T (n.1153-32C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.32640245C>GCA2618193021FGD4c.2044-31C>G (n.2044-31C>G)
c.2299-31C>G (n.2299-31C>G)
c.1765-31C>G (n.1765-31C>G)
c.856-31C>G (n.856-31C>G)
n.842-31C>G
c.2455-31C>G (n.2455-31C>G)
c.*1455-31C>G (n.*1455-31C>G)
c.1932-31C>G
c.2380-31C>G (n.2380-31C>G)
c.*1413-31C>G (n.*1413-31C>G)
c.1012-31C>G (n.1012-31C>G)
c.2536-31C>G (n.2536-31C>G)
c.1300-31C>G (n.1300-31C>G)
c.2338-31C>G (n.2338-31C>G)
c.1492-31C>G (n.1492-31C>G)
c.1447-31C>G (n.1447-31C>G)
c.1279-31C>G (n.1279-31C>G)
c.1153-31C>G (n.1153-31C>G)
 gnomAD v4
12g.32640247G>ACA2618193023FGD4c.2044-29G>A (n.2044-29G>A)
c.2299-29G>A (n.2299-29G>A)
c.1765-29G>A (n.1765-29G>A)
c.856-29G>A (n.856-29G>A)
n.842-29G>A
c.2455-29G>A (n.2455-29G>A)
c.*1455-29G>A (n.*1455-29G>A)
c.1932-29G>A
c.2380-29G>A (n.2380-29G>A)
c.*1413-29G>A (n.*1413-29G>A)
c.1012-29G>A (n.1012-29G>A)
c.2536-29G>A (n.2536-29G>A)
c.1300-29G>A (n.1300-29G>A)
c.2338-29G>A (n.2338-29G>A)
c.1492-29G>A (n.1492-29G>A)
c.1447-29G>A (n.1447-29G>A)
c.1279-29G>A (n.1279-29G>A)
c.1153-29G>A (n.1153-29G>A)
 gnomAD v4
12g.32640248C=CA2026264527FGD4c.2044-28C= (n.2044-28C=)
c.2299-28C= (n.2299-28C=)
c.1765-28C= (n.1765-28C=)
c.856-28C= (n.856-28C=)
n.842-28C=
c.2455-28C= (n.2455-28C=)
c.*1455-28C= (n.*1455-28C=)
c.1932-28C=
c.2380-28C= (n.2380-28C=)
c.*1413-28C= (n.*1413-28C=)
c.1012-28C= (n.1012-28C=)
c.2536-28C= (n.2536-28C=)
c.1300-28C= (n.1300-28C=)
c.2338-28C= (n.2338-28C=)
c.1492-28C= (n.1492-28C=)
c.1447-28C= (n.1447-28C=)
c.1279-28C= (n.1279-28C=)
c.1153-28C= (n.1153-28C=)
12g.32640248C>TCA946297829FGD4c.2044-28C>T (n.2044-28C>T)
c.2299-28C>T (n.2299-28C>T)
c.1765-28C>T (n.1765-28C>T)
c.856-28C>T (n.856-28C>T)
n.842-28C>T
c.2455-28C>T (n.2455-28C>T)
c.*1455-28C>T (n.*1455-28C>T)
c.1932-28C>T
c.2380-28C>T (n.2380-28C>T)
c.*1413-28C>T (n.*1413-28C>T)
c.1012-28C>T (n.1012-28C>T)
c.2536-28C>T (n.2536-28C>T)
c.1300-28C>T (n.1300-28C>T)
c.2338-28C>T (n.2338-28C>T)
c.1492-28C>T (n.1492-28C>T)
c.1447-28C>T (n.1447-28C>T)
c.1279-28C>T (n.1279-28C>T)
c.1153-28C>T (n.1153-28C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.32640249T>CCA2026264532FGD4c.2044-27T>C (n.2044-27T>C)
c.2299-27T>C (n.2299-27T>C)
c.1765-27T>C (n.1765-27T>C)
c.856-27T>C (n.856-27T>C)
n.842-27T>C
c.2455-27T>C (n.2455-27T>C)
c.*1455-27T>C (n.*1455-27T>C)
c.1932-27T>C
c.2380-27T>C (n.2380-27T>C)
c.*1413-27T>C (n.*1413-27T>C)
c.1012-27T>C (n.1012-27T>C)
c.2536-27T>C (n.2536-27T>C)
c.1300-27T>C (n.1300-27T>C)
c.2338-27T>C (n.2338-27T>C)
c.1492-27T>C (n.1492-27T>C)
c.1447-27T>C (n.1447-27T>C)
c.1279-27T>C (n.1279-27T>C)
c.1153-27T>C (n.1153-27T>C)
 dbSNP
12g.32640249T=CA2026264529FGD4c.2044-27T= (n.2044-27T=)
c.2299-27T= (n.2299-27T=)
c.1765-27T= (n.1765-27T=)
c.856-27T= (n.856-27T=)
n.842-27T=
c.2455-27T= (n.2455-27T=)
c.*1455-27T= (n.*1455-27T=)
c.1932-27T=
c.2380-27T= (n.2380-27T=)
c.*1413-27T= (n.*1413-27T=)
c.1012-27T= (n.1012-27T=)
c.2536-27T= (n.2536-27T=)
c.1300-27T= (n.1300-27T=)
c.2338-27T= (n.2338-27T=)
c.1492-27T= (n.1492-27T=)
c.1447-27T= (n.1447-27T=)
c.1279-27T= (n.1279-27T=)
c.1153-27T= (n.1153-27T=)
12g.32640251T>GCA654667420FGD4c.2044-25T>G (n.2044-25T>G)
c.2299-25T>G (n.2299-25T>G)
c.1765-25T>G (n.1765-25T>G)
c.856-25T>G (n.856-25T>G)
n.842-25T>G
c.2455-25T>G (n.2455-25T>G)
c.*1455-25T>G (n.*1455-25T>G)
c.1932-25T>G
c.2380-25T>G (n.2380-25T>G)
c.*1413-25T>G (n.*1413-25T>G)
c.1012-25T>G (n.1012-25T>G)
c.2536-25T>G (n.2536-25T>G)
c.1300-25T>G (n.1300-25T>G)
c.2338-25T>G (n.2338-25T>G)
c.1492-25T>G (n.1492-25T>G)
c.1447-25T>G (n.1447-25T>G)
c.1279-25T>G (n.1279-25T>G)
c.1153-25T>G (n.1153-25T>G)
 gnomAD v4 COSMIC
12g.32640256G>ACA2795086434FGD4c.2044-20G>A (n.2044-20G>A)
c.2299-20G>A (n.2299-20G>A)
c.1765-20G>A (n.1765-20G>A)
c.856-20G>A (n.856-20G>A)
n.842-20G>A
c.2455-20G>A (n.2455-20G>A)
c.*1455-20G>A (n.*1455-20G>A)
c.1932-20G>A
c.2380-20G>A (n.2380-20G>A)
c.*1413-20G>A (n.*1413-20G>A)
c.1012-20G>A (n.1012-20G>A)
c.2536-20G>A (n.2536-20G>A)
c.1300-20G>A (n.1300-20G>A)
c.2338-20G>A (n.2338-20G>A)
c.1492-20G>A (n.1492-20G>A)
c.1447-20G>A (n.1447-20G>A)
c.1279-20G>A (n.1279-20G>A)
c.1153-20G>A (n.1153-20G>A)
12g.32640257T>CCA235247755FGD4c.2044-19T>C (n.2044-19T>C)
c.2299-19T>C (n.2299-19T>C)
c.1765-19T>C (n.1765-19T>C)
c.856-19T>C (n.856-19T>C)
n.842-19T>C
c.2455-19T>C (n.2455-19T>C)
c.*1455-19T>C (n.*1455-19T>C)
c.1932-19T>C
c.2380-19T>C (n.2380-19T>C)
c.*1413-19T>C (n.*1413-19T>C)
c.1012-19T>C (n.1012-19T>C)
c.2536-19T>C (n.2536-19T>C)
c.1300-19T>C (n.1300-19T>C)
c.2338-19T>C (n.2338-19T>C)
c.1492-19T>C (n.1492-19T>C)
c.1447-19T>C (n.1447-19T>C)
c.1279-19T>C (n.1279-19T>C)
c.1153-19T>C (n.1153-19T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.32640257T>GCA2618193029FGD4c.2044-19T>G (n.2044-19T>G)
c.2299-19T>G (n.2299-19T>G)
c.1765-19T>G (n.1765-19T>G)
c.856-19T>G (n.856-19T>G)
n.842-19T>G
c.2455-19T>G (n.2455-19T>G)
c.*1455-19T>G (n.*1455-19T>G)
c.1932-19T>G
c.2380-19T>G (n.2380-19T>G)
c.*1413-19T>G (n.*1413-19T>G)
c.1012-19T>G (n.1012-19T>G)
c.2536-19T>G (n.2536-19T>G)
c.1300-19T>G (n.1300-19T>G)
c.2338-19T>G (n.2338-19T>G)
c.1492-19T>G (n.1492-19T>G)
c.1447-19T>G (n.1447-19T>G)
c.1279-19T>G (n.1279-19T>G)
c.1153-19T>G (n.1153-19T>G)
 gnomAD v4
12g.32640257T=CA2026264533FGD4c.2044-19T= (n.2044-19T=)
c.2299-19T= (n.2299-19T=)
c.1765-19T= (n.1765-19T=)
c.856-19T= (n.856-19T=)
n.842-19T=
c.2455-19T= (n.2455-19T=)
c.*1455-19T= (n.*1455-19T=)
c.1932-19T=
c.2380-19T= (n.2380-19T=)
c.*1413-19T= (n.*1413-19T=)
c.1012-19T= (n.1012-19T=)
c.2536-19T= (n.2536-19T=)
c.1300-19T= (n.1300-19T=)
c.2338-19T= (n.2338-19T=)
c.1492-19T= (n.1492-19T=)
c.1447-19T= (n.1447-19T=)
c.1279-19T= (n.1279-19T=)
c.1153-19T= (n.1153-19T=)
12g.32640258C=CA2026264534FGD4c.2044-18C= (n.2044-18C=)
c.2299-18C= (n.2299-18C=)
c.1765-18C= (n.1765-18C=)
c.856-18C= (n.856-18C=)
n.842-18C=
c.2455-18C= (n.2455-18C=)
c.*1455-18C= (n.*1455-18C=)
c.1932-18C=
c.2380-18C= (n.2380-18C=)
c.*1413-18C= (n.*1413-18C=)
c.1012-18C= (n.1012-18C=)
c.2536-18C= (n.2536-18C=)
c.1300-18C= (n.1300-18C=)
c.2338-18C= (n.2338-18C=)
c.1492-18C= (n.1492-18C=)
c.1447-18C= (n.1447-18C=)
c.1279-18C= (n.1279-18C=)
c.1153-18C= (n.1153-18C=)
12g.32640258C>TCA687462583FGD4c.2044-18C>T (n.2044-18C>T)
c.2299-18C>T (n.2299-18C>T)
c.1765-18C>T (n.1765-18C>T)
c.856-18C>T (n.856-18C>T)
n.842-18C>T
c.2455-18C>T (n.2455-18C>T)
c.*1455-18C>T (n.*1455-18C>T)
c.1932-18C>T
c.2380-18C>T (n.2380-18C>T)
c.*1413-18C>T (n.*1413-18C>T)
c.1012-18C>T (n.1012-18C>T)
c.2536-18C>T (n.2536-18C>T)
c.1300-18C>T (n.1300-18C>T)
c.2338-18C>T (n.2338-18C>T)
c.1492-18C>T (n.1492-18C>T)
c.1447-18C>T (n.1447-18C>T)
c.1279-18C>T (n.1279-18C>T)
c.1153-18C>T (n.1153-18C>T)
 dbSNP gnomAD v4
12g.32640260G>ACA235247756FGD4c.2044-16G>A (n.2044-16G>A)
c.2299-16G>A (n.2299-16G>A)
c.1765-16G>A (n.1765-16G>A)
c.856-16G>A (n.856-16G>A)
n.842-16G>A
c.2455-16G>A (n.2455-16G>A)
c.*1455-16G>A (n.*1455-16G>A)
c.1932-16G>A
c.2380-16G>A (n.2380-16G>A)
c.*1413-16G>A (n.*1413-16G>A)
c.1012-16G>A (n.1012-16G>A)
c.2536-16G>A (n.2536-16G>A)
c.1300-16G>A (n.1300-16G>A)
c.2338-16G>A (n.2338-16G>A)
c.1492-16G>A (n.1492-16G>A)
c.1447-16G>A (n.1447-16G>A)
c.1279-16G>A (n.1279-16G>A)
c.1153-16G>A (n.1153-16G>A)
 dbSNP gnomAD v4
12g.32640260G=CA2026264535FGD4c.2044-16G= (n.2044-16G=)
c.2299-16G= (n.2299-16G=)
c.1765-16G= (n.1765-16G=)
c.856-16G= (n.856-16G=)
n.842-16G=
c.2455-16G= (n.2455-16G=)
c.*1455-16G= (n.*1455-16G=)
c.1932-16G=
c.2380-16G= (n.2380-16G=)
c.*1413-16G= (n.*1413-16G=)
c.1012-16G= (n.1012-16G=)
c.2536-16G= (n.2536-16G=)
c.1300-16G= (n.1300-16G=)
c.2338-16G= (n.2338-16G=)
c.1492-16G= (n.1492-16G=)
c.1447-16G= (n.1447-16G=)
c.1279-16G= (n.1279-16G=)
c.1153-16G= (n.1153-16G=)
12g.32640261A=CA2026264536FGD4c.2044-15A= (n.2044-15A=)
c.2299-15A= (n.2299-15A=)
c.1765-15A= (n.1765-15A=)
c.856-15A= (n.856-15A=)
n.842-15A=
c.2455-15A= (n.2455-15A=)
c.*1455-15A= (n.*1455-15A=)
c.1932-15A=
c.2380-15A= (n.2380-15A=)
c.*1413-15A= (n.*1413-15A=)
c.1012-15A= (n.1012-15A=)
c.2536-15A= (n.2536-15A=)
c.1300-15A= (n.1300-15A=)
c.2338-15A= (n.2338-15A=)
c.1492-15A= (n.1492-15A=)
c.1447-15A= (n.1447-15A=)
c.1279-15A= (n.1279-15A=)
c.1153-15A= (n.1153-15A=)
12g.32640261A>TCA2026264537FGD4c.2044-15A>T (n.2044-15A>T)
c.2299-15A>T (n.2299-15A>T)
c.1765-15A>T (n.1765-15A>T)
c.856-15A>T (n.856-15A>T)
n.842-15A>T
c.2455-15A>T (n.2455-15A>T)
c.*1455-15A>T (n.*1455-15A>T)
c.1932-15A>T
c.2380-15A>T (n.2380-15A>T)
c.*1413-15A>T (n.*1413-15A>T)
c.1012-15A>T (n.1012-15A>T)
c.2536-15A>T (n.2536-15A>T)
c.1300-15A>T (n.1300-15A>T)
c.2338-15A>T (n.2338-15A>T)
c.1492-15A>T (n.1492-15A>T)
c.1447-15A>T (n.1447-15A>T)
c.1279-15A>T (n.1279-15A>T)
c.1153-15A>T (n.1153-15A>T)
 dbSNP
12g.32640262_32640263delinsTGCA2026264538FGD4c.2044-14_2044-13delinsTG (n.2044-14_2044-13delinsTG)
c.2299-14_2299-13delinsTG (n.2299-14_2299-13delinsTG)
c.1765-14_1765-13delinsTG (n.1765-14_1765-13delinsTG)
c.856-14_856-13delinsTG (n.856-14_856-13delinsTG)
n.842-14_842-13delinsTG
c.2455-14_2455-13delinsTG (n.2455-14_2455-13delinsTG)
c.*1455-14_*1455-13delinsTG (n.*1455-14_*1455-13delinsTG)
c.1932-14_1932-13delinsTG
c.2380-14_2380-13delinsTG (n.2380-14_2380-13delinsTG)
c.*1413-14_*1413-13delinsTG (n.*1413-14_*1413-13delinsTG)
c.1012-14_1012-13delinsTG (n.1012-14_1012-13delinsTG)
c.2536-14_2536-13delinsTG (n.2536-14_2536-13delinsTG)
c.1300-14_1300-13delinsTG (n.1300-14_1300-13delinsTG)
c.2338-14_2338-13delinsTG (n.2338-14_2338-13delinsTG)
c.1492-14_1492-13delinsTG (n.1492-14_1492-13delinsTG)
c.1447-14_1447-13delinsTG (n.1447-14_1447-13delinsTG)
c.1279-14_1279-13delinsTG (n.1279-14_1279-13delinsTG)
c.1153-14_1153-13delinsTG (n.1153-14_1153-13delinsTG)
12g.32640263delCA235247762FGD4c.2044-13del (n.2044-13del)
c.2299-13del (n.2299-13del)
c.1765-13del (n.1765-13del)
c.856-13del (n.856-13del)
n.842-13del
c.2455-13del (n.2455-13del)
c.*1455-13del (n.*1455-13del)
c.1932-13del
c.2380-13del (n.2380-13del)
c.*1413-13del (n.*1413-13del)
c.1012-13del (n.1012-13del)
c.2536-13del (n.2536-13del)
c.1300-13del (n.1300-13del)
c.2338-13del (n.2338-13del)
c.1492-13del (n.1492-13del)
c.1447-13del (n.1447-13del)
c.1279-13del (n.1279-13del)
c.1153-13del (n.1153-13del)
 dbSNP gnomAD v4
12g.32640264T>ACA2575117703FGD4c.2044-12T>A (n.2044-12T>A)
c.2299-12T>A (n.2299-12T>A)
c.1765-12T>A (n.1765-12T>A)
c.856-12T>A (n.856-12T>A)
n.842-12T>A
c.2455-12T>A (n.2455-12T>A)
c.*1455-12T>A (n.*1455-12T>A)
c.1932-12T>A
c.2380-12T>A (n.2380-12T>A)
c.*1413-12T>A (n.*1413-12T>A)
c.1012-12T>A (n.1012-12T>A)
c.2536-12T>A (n.2536-12T>A)
c.1300-12T>A (n.1300-12T>A)
c.2338-12T>A (n.2338-12T>A)
c.1492-12T>A (n.1492-12T>A)
c.1447-12T>A (n.1447-12T>A)
c.1279-12T>A (n.1279-12T>A)
c.1153-12T>A (n.1153-12T>A)
12g.32640264T>CCA604480417FGD4c.2044-12T>C (n.2044-12T>C)
c.2299-12T>C (n.2299-12T>C)
c.1765-12T>C (n.1765-12T>C)
c.856-12T>C (n.856-12T>C)
n.842-12T>C
c.2455-12T>C (n.2455-12T>C)
c.*1455-12T>C (n.*1455-12T>C)
c.1932-12T>C
c.2380-12T>C (n.2380-12T>C)
c.*1413-12T>C (n.*1413-12T>C)
c.1012-12T>C (n.1012-12T>C)
c.2536-12T>C (n.2536-12T>C)
c.1300-12T>C (n.1300-12T>C)
c.2338-12T>C (n.2338-12T>C)
c.1492-12T>C (n.1492-12T>C)
c.1447-12T>C (n.1447-12T>C)
c.1279-12T>C (n.1279-12T>C)
c.1153-12T>C (n.1153-12T>C)
 dbSNP gnomAD v2
12g.32640264T>GCA2618193033FGD4c.2044-12T>G (n.2044-12T>G)
c.2299-12T>G (n.2299-12T>G)
c.1765-12T>G (n.1765-12T>G)
c.856-12T>G (n.856-12T>G)
n.842-12T>G
c.2455-12T>G (n.2455-12T>G)
c.*1455-12T>G (n.*1455-12T>G)
c.1932-12T>G
c.2380-12T>G (n.2380-12T>G)
c.*1413-12T>G (n.*1413-12T>G)
c.1012-12T>G (n.1012-12T>G)
c.2536-12T>G (n.2536-12T>G)
c.1300-12T>G (n.1300-12T>G)
c.2338-12T>G (n.2338-12T>G)
c.1492-12T>G (n.1492-12T>G)
c.1447-12T>G (n.1447-12T>G)
c.1279-12T>G (n.1279-12T>G)
c.1153-12T>G (n.1153-12T>G)
 gnomAD v4
12g.32640264T=CA2026264541FGD4c.2044-12T= (n.2044-12T=)
c.2299-12T= (n.2299-12T=)
c.1765-12T= (n.1765-12T=)
c.856-12T= (n.856-12T=)
n.842-12T=
c.2455-12T= (n.2455-12T=)
c.*1455-12T= (n.*1455-12T=)
c.1932-12T=
c.2380-12T= (n.2380-12T=)
c.*1413-12T= (n.*1413-12T=)
c.1012-12T= (n.1012-12T=)
c.2536-12T= (n.2536-12T=)
c.1300-12T= (n.1300-12T=)
c.2338-12T= (n.2338-12T=)
c.1492-12T= (n.1492-12T=)
c.1447-12T= (n.1447-12T=)
c.1279-12T= (n.1279-12T=)
c.1153-12T= (n.1153-12T=)
12g.32640266_32640267insGATATCTCA2618193031FGD4c.2044-10_2044-9insGATATCT (n.2044-10_2044-9insGATATCT)
c.2299-10_2299-9insGATATCT (n.2299-10_2299-9insGATATCT)
c.1765-10_1765-9insGATATCT (n.1765-10_1765-9insGATATCT)
c.856-10_856-9insGATATCT (n.856-10_856-9insGATATCT)
n.842-10_842-9insGATATCT
c.2455-10_2455-9insGATATCT (n.2455-10_2455-9insGATATCT)
c.*1455-10_*1455-9insGATATCT (n.*1455-10_*1455-9insGATATCT)
c.1932-10_1932-9insGATATCT
c.2380-10_2380-9insGATATCT (n.2380-10_2380-9insGATATCT)
c.*1413-10_*1413-9insGATATCT (n.*1413-10_*1413-9insGATATCT)
c.1012-10_1012-9insGATATCT (n.1012-10_1012-9insGATATCT)
c.2536-10_2536-9insGATATCT (n.2536-10_2536-9insGATATCT)
c.1300-10_1300-9insGATATCT (n.1300-10_1300-9insGATATCT)
c.2338-10_2338-9insGATATCT (n.2338-10_2338-9insGATATCT)
c.1492-10_1492-9insGATATCT (n.1492-10_1492-9insGATATCT)
c.1447-10_1447-9insGATATCT (n.1447-10_1447-9insGATATCT)
c.1279-10_1279-9insGATATCT (n.1279-10_1279-9insGATATCT)
c.1153-10_1153-9insGATATCT (n.1153-10_1153-9insGATATCT)
 gnomAD v4
12g.32640265C>ACA2618193036FGD4c.2044-11C>A (n.2044-11C>A)
c.2299-11C>A (n.2299-11C>A)
c.1765-11C>A (n.1765-11C>A)
c.856-11C>A (n.856-11C>A)
n.842-11C>A
c.2455-11C>A (n.2455-11C>A)
c.*1455-11C>A (n.*1455-11C>A)
c.1932-11C>A
c.2380-11C>A (n.2380-11C>A)
c.*1413-11C>A (n.*1413-11C>A)
c.1012-11C>A (n.1012-11C>A)
c.2536-11C>A (n.2536-11C>A)
c.1300-11C>A (n.1300-11C>A)
c.2338-11C>A (n.2338-11C>A)
c.1492-11C>A (n.1492-11C>A)
c.1447-11C>A (n.1447-11C>A)
c.1279-11C>A (n.1279-11C>A)
c.1153-11C>A (n.1153-11C>A)
 gnomAD v4
12g.32640265C>GCA654667421FGD4c.2044-11C>G (n.2044-11C>G)
c.2299-11C>G (n.2299-11C>G)
c.1765-11C>G (n.1765-11C>G)
c.856-11C>G (n.856-11C>G)
n.842-11C>G
c.2455-11C>G (n.2455-11C>G)
c.*1455-11C>G (n.*1455-11C>G)
c.1932-11C>G
c.2380-11C>G (n.2380-11C>G)
c.*1413-11C>G (n.*1413-11C>G)
c.1012-11C>G (n.1012-11C>G)
c.2536-11C>G (n.2536-11C>G)
c.1300-11C>G (n.1300-11C>G)
c.2338-11C>G (n.2338-11C>G)
c.1492-11C>G (n.1492-11C>G)
c.1447-11C>G (n.1447-11C>G)
c.1279-11C>G (n.1279-11C>G)
c.1153-11C>G (n.1153-11C>G)
 gnomAD v4 COSMIC
12g.32640265_32640266delinsCTCA2026264543FGD4c.2044-11_2044-10delinsCT (n.2044-11_2044-10delinsCT)
c.2299-11_2299-10delinsCT (n.2299-11_2299-10delinsCT)
c.1765-11_1765-10delinsCT (n.1765-11_1765-10delinsCT)
c.856-11_856-10delinsCT (n.856-11_856-10delinsCT)
n.842-11_842-10delinsCT
c.2455-11_2455-10delinsCT (n.2455-11_2455-10delinsCT)
c.*1455-11_*1455-10delinsCT (n.*1455-11_*1455-10delinsCT)
c.1932-11_1932-10delinsCT
c.2380-11_2380-10delinsCT (n.2380-11_2380-10delinsCT)
c.*1413-11_*1413-10delinsCT (n.*1413-11_*1413-10delinsCT)
c.1012-11_1012-10delinsCT (n.1012-11_1012-10delinsCT)
c.2536-11_2536-10delinsCT (n.2536-11_2536-10delinsCT)
c.1300-11_1300-10delinsCT (n.1300-11_1300-10delinsCT)
c.2338-11_2338-10delinsCT (n.2338-11_2338-10delinsCT)
c.1492-11_1492-10delinsCT (n.1492-11_1492-10delinsCT)
c.1447-11_1447-10delinsCT (n.1447-11_1447-10delinsCT)
c.1279-11_1279-10delinsCT (n.1279-11_1279-10delinsCT)
c.1153-11_1153-10delinsCT (n.1153-11_1153-10delinsCT)
12g.32640266T>CCA915947915FGD4c.2044-10T>C (n.2044-10T>C)
c.2299-10T>C (n.2299-10T>C)
c.1765-10T>C (n.1765-10T>C)
c.856-10T>C (n.856-10T>C)
n.842-10T>C
c.2455-10T>C (n.2455-10T>C)
c.*1455-10T>C (n.*1455-10T>C)
c.1932-10T>C
c.2380-10T>C (n.2380-10T>C)
c.*1413-10T>C (n.*1413-10T>C)
c.1012-10T>C (n.1012-10T>C)
c.2536-10T>C (n.2536-10T>C)
c.1300-10T>C (n.1300-10T>C)
c.2338-10T>C (n.2338-10T>C)
c.1492-10T>C (n.1492-10T>C)
c.1447-10T>C (n.1447-10T>C)
c.1279-10T>C (n.1279-10T>C)
c.1153-10T>C (n.1153-10T>C)
 ClinVar dbSNP gnomAD v4
12g.32640266T=CA2026264547FGD4c.2044-10T= (n.2044-10T=)
c.2299-10T= (n.2299-10T=)
c.1765-10T= (n.1765-10T=)
c.856-10T= (n.856-10T=)
n.842-10T=
c.2455-10T= (n.2455-10T=)
c.*1455-10T= (n.*1455-10T=)
c.1932-10T=
c.2380-10T= (n.2380-10T=)
c.*1413-10T= (n.*1413-10T=)
c.1012-10T= (n.1012-10T=)
c.2536-10T= (n.2536-10T=)
c.1300-10T= (n.1300-10T=)
c.2338-10T= (n.2338-10T=)
c.1492-10T= (n.1492-10T=)
c.1447-10T= (n.1447-10T=)
c.1279-10T= (n.1279-10T=)
c.1153-10T= (n.1153-10T=)
12g.32640266_32640269delCA2841498284FGD4c.2044-10_2044-7del (n.2044-10_2044-7del)
c.2299-10_2299-7del (n.2299-10_2299-7del)
c.1765-10_1765-7del (n.1765-10_1765-7del)
c.856-10_856-7del (n.856-10_856-7del)
n.842-10_842-7del
c.2455-10_2455-7del (n.2455-10_2455-7del)
c.*1455-10_*1455-7del (n.*1455-10_*1455-7del)
c.1932-10_1932-7del
c.2380-10_2380-7del (n.2380-10_2380-7del)
c.*1413-10_*1413-7del (n.*1413-10_*1413-7del)
c.1012-10_1012-7del (n.1012-10_1012-7del)
c.2536-10_2536-7del (n.2536-10_2536-7del)
c.1300-10_1300-7del (n.1300-10_1300-7del)
c.2338-10_2338-7del (n.2338-10_2338-7del)
c.1492-10_1492-7del (n.1492-10_1492-7del)
c.1447-10_1447-7del (n.1447-10_1447-7del)
c.1279-10_1279-7del (n.1279-10_1279-7del)
c.1153-10_1153-7del (n.1153-10_1153-7del)
12g.32640269delCA6507105FGD4c.2044-7del (n.2044-7del)
c.2299-7del (n.2299-7del)
c.1765-7del (n.1765-7del)
c.856-7del (n.856-7del)
n.842-7del
c.2455-7del (n.2455-7del)
c.*1455-7del (n.*1455-7del)
c.1932-7del
c.2380-7del (n.2380-7del)
c.*1413-7del (n.*1413-7del)
c.1012-7del (n.1012-7del)
c.2536-7del (n.2536-7del)
c.1300-7del (n.1300-7del)
c.2338-7del (n.2338-7del)
c.1492-7del (n.1492-7del)
c.1447-7del (n.1447-7del)
c.1279-7del (n.1279-7del)
c.1153-7del (n.1153-7del)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.32640267T>ACA604480418FGD4c.2044-9T>A (n.2044-9T>A)
c.2299-9T>A (n.2299-9T>A)
c.1765-9T>A (n.1765-9T>A)
c.856-9T>A (n.856-9T>A)
n.842-9T>A
c.2455-9T>A (n.2455-9T>A)
c.*1455-9T>A (n.*1455-9T>A)
c.1932-9T>A
c.2380-9T>A (n.2380-9T>A)
c.*1413-9T>A (n.*1413-9T>A)
c.1012-9T>A (n.1012-9T>A)
c.2536-9T>A (n.2536-9T>A)
c.1300-9T>A (n.1300-9T>A)
c.2338-9T>A (n.2338-9T>A)
c.1492-9T>A (n.1492-9T>A)
c.1447-9T>A (n.1447-9T>A)
c.1279-9T>A (n.1279-9T>A)
c.1153-9T>A (n.1153-9T>A)
 dbSNP gnomAD v2 gnomAD v4
12g.32640267T=CA2026264550FGD4c.2044-9T= (n.2044-9T=)
c.2299-9T= (n.2299-9T=)
c.1765-9T= (n.1765-9T=)
c.856-9T= (n.856-9T=)
n.842-9T=
c.2455-9T= (n.2455-9T=)
c.*1455-9T= (n.*1455-9T=)
c.1932-9T=
c.2380-9T= (n.2380-9T=)
c.*1413-9T= (n.*1413-9T=)
c.1012-9T= (n.1012-9T=)
c.2536-9T= (n.2536-9T=)
c.1300-9T= (n.1300-9T=)
c.2338-9T= (n.2338-9T=)
c.1492-9T= (n.1492-9T=)
c.1447-9T= (n.1447-9T=)
c.1279-9T= (n.1279-9T=)
c.1153-9T= (n.1153-9T=)
12g.32640269T>CCA2573148556FGD4c.2044-7T>C (n.2044-7T>C)
c.2299-7T>C (n.2299-7T>C)
c.1765-7T>C (n.1765-7T>C)
c.856-7T>C (n.856-7T>C)
n.842-7T>C
c.2455-7T>C (n.2455-7T>C)
c.*1455-7T>C (n.*1455-7T>C)
c.1932-7T>C
c.2380-7T>C (n.2380-7T>C)
c.*1413-7T>C (n.*1413-7T>C)
c.1012-7T>C (n.1012-7T>C)
c.2536-7T>C (n.2536-7T>C)
c.1300-7T>C (n.1300-7T>C)
c.2338-7T>C (n.2338-7T>C)
c.1492-7T>C (n.1492-7T>C)
c.1447-7T>C (n.1447-7T>C)
c.1279-7T>C (n.1279-7T>C)
c.1153-7T>C (n.1153-7T>C)
 ClinVar dbSNP
12g.32640271T>GCA6507106FGD4c.2044-5T>G (n.2044-5T>G)
c.2299-5T>G (n.2299-5T>G)
c.1765-5T>G (n.1765-5T>G)
c.856-5T>G (n.856-5T>G)
n.842-5T>G
c.2455-5T>G (n.2455-5T>G)
c.*1455-5T>G (n.*1455-5T>G)
c.1932-5T>G
c.2380-5T>G (n.2380-5T>G)
c.*1413-5T>G (n.*1413-5T>G)
c.1012-5T>G (n.1012-5T>G)
c.2536-5T>G (n.2536-5T>G)
c.1300-5T>G (n.1300-5T>G)
c.2338-5T>G (n.2338-5T>G)
c.1492-5T>G (n.1492-5T>G)
c.1447-5T>G (n.1447-5T>G)
c.1279-5T>G (n.1279-5T>G)
c.1153-5T>G (n.1153-5T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32640271T=CA2026264551FGD4c.2044-5T= (n.2044-5T=)
c.2299-5T= (n.2299-5T=)
c.1765-5T= (n.1765-5T=)
c.856-5T= (n.856-5T=)
n.842-5T=
c.2455-5T= (n.2455-5T=)
c.*1455-5T= (n.*1455-5T=)
c.1932-5T=
c.2380-5T= (n.2380-5T=)
c.*1413-5T= (n.*1413-5T=)
c.1012-5T= (n.1012-5T=)
c.2536-5T= (n.2536-5T=)
c.1300-5T= (n.1300-5T=)
c.2338-5T= (n.2338-5T=)
c.1492-5T= (n.1492-5T=)
c.1447-5T= (n.1447-5T=)
c.1279-5T= (n.1279-5T=)
c.1153-5T= (n.1153-5T=)
12g.32640272_32640273delCA2841498285FGD4c.2044-4_2044-3del (n.2044-4_2044-3del)
c.2299-4_2299-3del (n.2299-4_2299-3del)
c.1765-4_1765-3del (n.1765-4_1765-3del)
c.856-4_856-3del (n.856-4_856-3del)
n.842-4_842-3del
c.2455-4_2455-3del (n.2455-4_2455-3del)
c.*1455-4_*1455-3del (n.*1455-4_*1455-3del)
c.1932-4_1932-3del
c.2380-4_2380-3del (n.2380-4_2380-3del)
c.*1413-4_*1413-3del (n.*1413-4_*1413-3del)
c.1012-4_1012-3del (n.1012-4_1012-3del)
c.2536-4_2536-3del (n.2536-4_2536-3del)
c.1300-4_1300-3del (n.1300-4_1300-3del)
c.2338-4_2338-3del (n.2338-4_2338-3del)
c.1492-4_1492-3del (n.1492-4_1492-3del)
c.1447-4_1447-3del (n.1447-4_1447-3del)
c.1279-4_1279-3del (n.1279-4_1279-3del)
c.1153-4_1153-3del (n.1153-4_1153-3del)
12g.32640272T>ACA604480419FGD4c.2044-4T>A (n.2044-4T>A)
c.2299-4T>A (n.2299-4T>A)
c.1765-4T>A (n.1765-4T>A)
c.856-4T>A (n.856-4T>A)
n.842-4T>A
c.2455-4T>A (n.2455-4T>A)
c.*1455-4T>A (n.*1455-4T>A)
c.1932-4T>A
c.2380-4T>A (n.2380-4T>A)
c.*1413-4T>A (n.*1413-4T>A)
c.1012-4T>A (n.1012-4T>A)
c.2536-4T>A (n.2536-4T>A)
c.1300-4T>A (n.1300-4T>A)
c.2338-4T>A (n.2338-4T>A)
c.1492-4T>A (n.1492-4T>A)
c.1447-4T>A (n.1447-4T>A)
c.1279-4T>A (n.1279-4T>A)
c.1153-4T>A (n.1153-4T>A)
 dbSNP gnomAD v2 gnomAD v4
12g.32640272T>GCA235247770FGD4c.2044-4T>G (n.2044-4T>G)
c.2299-4T>G (n.2299-4T>G)
c.1765-4T>G (n.1765-4T>G)
c.856-4T>G (n.856-4T>G)
n.842-4T>G
c.2455-4T>G (n.2455-4T>G)
c.*1455-4T>G (n.*1455-4T>G)
c.1932-4T>G
c.2380-4T>G (n.2380-4T>G)
c.*1413-4T>G (n.*1413-4T>G)
c.1012-4T>G (n.1012-4T>G)
c.2536-4T>G (n.2536-4T>G)
c.1300-4T>G (n.1300-4T>G)
c.2338-4T>G (n.2338-4T>G)
c.1492-4T>G (n.1492-4T>G)
c.1447-4T>G (n.1447-4T>G)
c.1279-4T>G (n.1279-4T>G)
c.1153-4T>G (n.1153-4T>G)
 dbSNP gnomAD v4
12g.32640272T=CA2026264552FGD4c.2044-4T= (n.2044-4T=)
c.2299-4T= (n.2299-4T=)
c.1765-4T= (n.1765-4T=)
c.856-4T= (n.856-4T=)
n.842-4T=
c.2455-4T= (n.2455-4T=)
c.*1455-4T= (n.*1455-4T=)
c.1932-4T=
c.2380-4T= (n.2380-4T=)
c.*1413-4T= (n.*1413-4T=)
c.1012-4T= (n.1012-4T=)
c.2536-4T= (n.2536-4T=)
c.1300-4T= (n.1300-4T=)
c.2338-4T= (n.2338-4T=)
c.1492-4T= (n.1492-4T=)
c.1447-4T= (n.1447-4T=)
c.1279-4T= (n.1279-4T=)
c.1153-4T= (n.1153-4T=)
12g.32640273T>CCA235247793FGD4c.2044-3T>C (n.2044-3T>C)
c.2299-3T>C (n.2299-3T>C)
c.1765-3T>C (n.1765-3T>C)
c.856-3T>C (n.856-3T>C)
n.842-3T>C
c.2455-3T>C (n.2455-3T>C)
c.*1455-3T>C (n.*1455-3T>C)
c.1932-3T>C
c.2380-3T>C (n.2380-3T>C)
c.*1413-3T>C (n.*1413-3T>C)
c.1012-3T>C (n.1012-3T>C)
c.2536-3T>C (n.2536-3T>C)
c.1300-3T>C (n.1300-3T>C)
c.2338-3T>C (n.2338-3T>C)
c.1492-3T>C (n.1492-3T>C)
c.1447-3T>C (n.1447-3T>C)
c.1279-3T>C (n.1279-3T>C)
c.1153-3T>C (n.1153-3T>C)
 dbSNP
12g.32640273T=CA2026264555FGD4c.2044-3T= (n.2044-3T=)
c.2299-3T= (n.2299-3T=)
c.1765-3T= (n.1765-3T=)
c.856-3T= (n.856-3T=)
n.842-3T=
c.2455-3T= (n.2455-3T=)
c.*1455-3T= (n.*1455-3T=)
c.1932-3T=
c.2380-3T= (n.2380-3T=)
c.*1413-3T= (n.*1413-3T=)
c.1012-3T= (n.1012-3T=)
c.2536-3T= (n.2536-3T=)
c.1300-3T= (n.1300-3T=)
c.2338-3T= (n.2338-3T=)
c.1492-3T= (n.1492-3T=)
c.1447-3T= (n.1447-3T=)
c.1279-3T= (n.1279-3T=)
c.1153-3T= (n.1153-3T=)
12g.32640274A>CCA384372215FGD4c.2044-2A>C (n.2044-2A>C)
c.2299-2A>C (n.2299-2A>C)
c.1765-2A>C (n.1765-2A>C)
c.856-2A>C (n.856-2A>C)
n.842-2A>C
c.2455-2A>C (n.2455-2A>C)
c.*1455-2A>C (n.*1455-2A>C)
c.1932-2A>C
c.2380-2A>C (n.2380-2A>C)
c.*1413-2A>C (n.*1413-2A>C)
c.1012-2A>C (n.1012-2A>C)
c.2536-2A>C (n.2536-2A>C)
c.1300-2A>C (n.1300-2A>C)
c.2338-2A>C (n.2338-2A>C)
c.1492-2A>C (n.1492-2A>C)
c.1447-2A>C (n.1447-2A>C)
c.1279-2A>C (n.1279-2A>C)
c.1153-2A>C (n.1153-2A>C)
12g.32640274A>GCA384372214FGD4c.2044-2A>G (n.2044-2A>G)
c.2299-2A>G (n.2299-2A>G)
c.1765-2A>G (n.1765-2A>G)
c.856-2A>G (n.856-2A>G)
n.842-2A>G
c.2455-2A>G (n.2455-2A>G)
c.*1455-2A>G (n.*1455-2A>G)
c.1932-2A>G
c.2380-2A>G (n.2380-2A>G)
c.*1413-2A>G (n.*1413-2A>G)
c.1012-2A>G (n.1012-2A>G)
c.2536-2A>G (n.2536-2A>G)
c.1300-2A>G (n.1300-2A>G)
c.2338-2A>G (n.2338-2A>G)
c.1492-2A>G (n.1492-2A>G)
c.1447-2A>G (n.1447-2A>G)
c.1279-2A>G (n.1279-2A>G)
c.1153-2A>G (n.1153-2A>G)
12g.32640274A>TCA384372213FGD4c.2044-2A>T (n.2044-2A>T)
c.2299-2A>T (n.2299-2A>T)
c.1765-2A>T (n.1765-2A>T)
c.856-2A>T (n.856-2A>T)
n.842-2A>T
c.2455-2A>T (n.2455-2A>T)
c.*1455-2A>T (n.*1455-2A>T)
c.1932-2A>T
c.2380-2A>T (n.2380-2A>T)
c.*1413-2A>T (n.*1413-2A>T)
c.1012-2A>T (n.1012-2A>T)
c.2536-2A>T (n.2536-2A>T)
c.1300-2A>T (n.1300-2A>T)
c.2338-2A>T (n.2338-2A>T)
c.1492-2A>T (n.1492-2A>T)
c.1447-2A>T (n.1447-2A>T)
c.1279-2A>T (n.1279-2A>T)
c.1153-2A>T (n.1153-2A>T)
12g.32640275G>ACA384372216FGD4c.2044-1G>A (n.2044-1G>A)
c.2299-1G>A (n.2299-1G>A)
c.1765-1G>A (n.1765-1G>A)
c.856-1G>A (n.856-1G>A)
n.842-1G>A
c.2455-1G>A (n.2455-1G>A)
c.*1455-1G>A (n.*1455-1G>A)
c.1932-1G>A
c.2380-1G>A (n.2380-1G>A)
c.*1413-1G>A (n.*1413-1G>A)
c.1012-1G>A (n.1012-1G>A)
c.2536-1G>A (n.2536-1G>A)
c.1300-1G>A (n.1300-1G>A)
c.2338-1G>A (n.2338-1G>A)
c.1492-1G>A (n.1492-1G>A)
c.1447-1G>A (n.1447-1G>A)
c.1279-1G>A (n.1279-1G>A)
c.1153-1G>A (n.1153-1G>A)
 COSMIC
12g.32640275G>CCA384372217FGD4c.2044-1G>C (n.2044-1G>C)
c.2299-1G>C (n.2299-1G>C)
c.1765-1G>C (n.1765-1G>C)
c.856-1G>C (n.856-1G>C)
n.842-1G>C
c.2455-1G>C (n.2455-1G>C)
c.*1455-1G>C (n.*1455-1G>C)
c.1932-1G>C
c.2380-1G>C (n.2380-1G>C)
c.*1413-1G>C (n.*1413-1G>C)
c.1012-1G>C (n.1012-1G>C)
c.2536-1G>C (n.2536-1G>C)
c.1300-1G>C (n.1300-1G>C)
c.2338-1G>C (n.2338-1G>C)
c.1492-1G>C (n.1492-1G>C)
c.1447-1G>C (n.1447-1G>C)
c.1279-1G>C (n.1279-1G>C)
c.1153-1G>C (n.1153-1G>C)
12g.32640275G>TCA384372218FGD4c.2044-1G>T (n.2044-1G>T)
c.2299-1G>T (n.2299-1G>T)
c.1765-1G>T (n.1765-1G>T)
c.856-1G>T (n.856-1G>T)
n.842-1G>T
c.2455-1G>T (n.2455-1G>T)
c.*1455-1G>T (n.*1455-1G>T)
c.1932-1G>T
c.2380-1G>T (n.2380-1G>T)
c.*1413-1G>T (n.*1413-1G>T)
c.1012-1G>T (n.1012-1G>T)
c.2536-1G>T (n.2536-1G>T)
c.1300-1G>T (n.1300-1G>T)
c.2338-1G>T (n.2338-1G>T)
c.1492-1G>T (n.1492-1G>T)
c.1447-1G>T (n.1447-1G>T)
c.1279-1G>T (n.1279-1G>T)
c.1153-1G>T (n.1153-1G>T)
12g.32640276_32640279delCA2839523118FGD4c.2044_2047del
c.2299_2302del
c.1765_1768del
c.856_859del
n.842_845del
c.2455_2458del
c.*1455_*1458del
c.1932_1935del
c.2380_2383del
c.*1413_*1416del
c.1012_1015del
c.2536_2539del
c.1300_1303del
c.2338_2341del
c.1492_1495del
c.1447_1450del
c.1279_1282del
c.1153_1156del
12g.32640276G>ACA384372219FGD4c.2044G>A (p.Asp682Asn)
c.2299G>A (p.Asp767Asn)
c.1765G>A (p.Asp589Asn)
c.856G>A (p.Asp286Asn)
n.842G>A
c.2455G>A (p.Asp819Asn)
c.*1455G>A (n.*1455G>A)
c.1932G>A
c.2380G>A (p.Asp794Asn)
c.*1413G>A (n.*1413G>A)
c.1012G>A (p.Asp338Asn)
c.2536G>A (p.Asp846Asn)
c.1300G>A (p.Asp434Asn)
c.2338G>A (p.Asp780Asn)
c.1492G>A (p.Asp498Asn)
c.1447G>A (p.Asp483Asn)
c.1279G>A (p.Asp427Asn)
c.1153G>A (p.Asp385Asn)
12g.32640276G>CCA384372220FGD4c.2044G>C (p.Asp682His)
c.2299G>C (p.Asp767His)
c.1765G>C (p.Asp589His)
c.856G>C (p.Asp286His)
n.842G>C
c.2455G>C (p.Asp819His)
c.*1455G>C (n.*1455G>C)
c.1932G>C
c.2380G>C (p.Asp794His)
c.*1413G>C (n.*1413G>C)
c.1012G>C (p.Asp338His)
c.2536G>C (p.Asp846His)
c.1300G>C (p.Asp434His)
c.2338G>C (p.Asp780His)
c.1492G>C (p.Asp498His)
c.1447G>C (p.Asp483His)
c.1279G>C (p.Asp427His)
c.1153G>C (p.Asp385His)
12g.32640276G>TCA384372221FGD4c.2044G>T (p.Asp682Tyr)
c.2299G>T (p.Asp767Tyr)
c.1765G>T (p.Asp589Tyr)
c.856G>T (p.Asp286Tyr)
n.842G>T
c.2455G>T (p.Asp819Tyr)
c.*1455G>T (n.*1455G>T)
c.1932G>T
c.2380G>T (p.Asp794Tyr)
c.*1413G>T (n.*1413G>T)
c.1012G>T (p.Asp338Tyr)
c.2536G>T (p.Asp846Tyr)
c.1300G>T (p.Asp434Tyr)
c.2338G>T (p.Asp780Tyr)
c.1492G>T (p.Asp498Tyr)
c.1447G>T (p.Asp483Tyr)
c.1279G>T (p.Asp427Tyr)
c.1153G>T (p.Asp385Tyr)
12g.32640277A>CCA384372222FGD4c.2045A>C (p.Asp682Ala)
c.2300A>C (p.Asp767Ala)
c.1766A>C (p.Asp589Ala)
c.857A>C (p.Asp286Ala)
n.843A>C
c.2456A>C (p.Asp819Ala)
c.*1456A>C (n.*1456A>C)
c.1933A>C
c.2381A>C (p.Asp794Ala)
c.*1414A>C (n.*1414A>C)
c.1013A>C (p.Asp338Ala)
c.2537A>C (p.Asp846Ala)
c.1301A>C (p.Asp434Ala)
c.2339A>C (p.Asp780Ala)
c.1493A>C (p.Asp498Ala)
c.1448A>C (p.Asp483Ala)
c.1280A>C (p.Asp427Ala)
c.1154A>C (p.Asp385Ala)
12g.32640277A>GCA384372223FGD4c.2045A>G (p.Asp682Gly)
c.2300A>G (p.Asp767Gly)
c.1766A>G (p.Asp589Gly)
c.857A>G (p.Asp286Gly)
n.843A>G
c.2456A>G (p.Asp819Gly)
c.*1456A>G (n.*1456A>G)
c.1933A>G
c.2381A>G (p.Asp794Gly)
c.*1414A>G (n.*1414A>G)
c.1013A>G (p.Asp338Gly)
c.2537A>G (p.Asp846Gly)
c.1301A>G (p.Asp434Gly)
c.2339A>G (p.Asp780Gly)
c.1493A>G (p.Asp498Gly)
c.1448A>G (p.Asp483Gly)
c.1280A>G (p.Asp427Gly)
c.1154A>G (p.Asp385Gly)
12g.32640277A>TCA384372224FGD4c.2045A>T (p.Asp682Val)
c.2300A>T (p.Asp767Val)
c.1766A>T (p.Asp589Val)
c.857A>T (p.Asp286Val)
n.843A>T
c.2456A>T (p.Asp819Val)
c.*1456A>T (n.*1456A>T)
c.1933A>T
c.2381A>T (p.Asp794Val)
c.*1414A>T (n.*1414A>T)
c.1013A>T (p.Asp338Val)
c.2537A>T (p.Asp846Val)
c.1301A>T (p.Asp434Val)
c.2339A>T (p.Asp780Val)
c.1493A>T (p.Asp498Val)
c.1448A>T (p.Asp483Val)
c.1280A>T (p.Asp427Val)
c.1154A>T (p.Asp385Val)
12g.32640278C>ACA384372225FGD4c.2046C>A (p.Asp682Glu)
c.2301C>A (p.Asp767Glu)
c.1767C>A (p.Asp589Glu)
c.858C>A (p.Asp286Glu)
n.844C>A
c.2457C>A (p.Asp819Glu)
c.*1457C>A (n.*1457C>A)
c.1934C>A
c.2382C>A (p.Asp794Glu)
c.*1415C>A (n.*1415C>A)
c.1014C>A (p.Asp338Glu)
c.2538C>A (p.Asp846Glu)
c.1302C>A (p.Asp434Glu)
c.2340C>A (p.Asp780Glu)
c.1494C>A (p.Asp498Glu)
c.1449C>A (p.Asp483Glu)
c.1281C>A (p.Asp427Glu)
c.1155C>A (p.Asp385Glu)
 COSMIC
12g.32640278C=CA2026264562FGD4c.2046C= (p.Asp682=)
c.2301C= (p.Asp767=)
c.1767C= (p.Asp589=)
c.858C= (p.Asp286=)
n.844C=
c.2457C= (p.Asp819=)
c.*1457C= (n.*1457C=)
c.1934C=
c.2382C= (p.Asp794=)
c.*1415C= (n.*1415C=)
c.1014C= (p.Asp338=)
c.2538C= (p.Asp846=)
c.1302C= (p.Asp434=)
c.2340C= (p.Asp780=)
c.1494C= (p.Asp498=)
c.1449C= (p.Asp483=)
c.1281C= (p.Asp427=)
c.1155C= (p.Asp385=)
12g.32640278C>GCA384372226FGD4c.2046C>G (p.Asp682Glu)
c.2301C>G (p.Asp767Glu)
c.1767C>G (p.Asp589Glu)
c.858C>G (p.Asp286Glu)
n.844C>G
c.2457C>G (p.Asp819Glu)
c.*1457C>G (n.*1457C>G)
c.1934C>G
c.2382C>G (p.Asp794Glu)
c.*1415C>G (n.*1415C>G)
c.1014C>G (p.Asp338Glu)
c.2538C>G (p.Asp846Glu)
c.1302C>G (p.Asp434Glu)
c.2340C>G (p.Asp780Glu)
c.1494C>G (p.Asp498Glu)
c.1449C>G (p.Asp483Glu)
c.1281C>G (p.Asp427Glu)
c.1155C>G (p.Asp385Glu)
12g.32640278C>TCA6507107FGD4c.2046C>T (p.Asp682=)
c.2301C>T (p.Asp767=)
c.1767C>T (p.Asp589=)
c.858C>T (p.Asp286=)
n.844C>T
c.2457C>T (p.Asp819=)
c.*1457C>T (n.*1457C>T)
c.1934C>T
c.2382C>T (p.Asp794=)
c.*1415C>T (n.*1415C>T)
c.1014C>T (p.Asp338=)
c.2538C>T (p.Asp846=)
c.1302C>T (p.Asp434=)
c.2340C>T (p.Asp780=)
c.1494C>T (p.Asp498=)
c.1449C>T (p.Asp483=)
c.1281C>T (p.Asp427=)
c.1155C>T (p.Asp385=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32640279G>ACA6507108FGD4c.2047G>A (p.Val683Ile)
c.2302G>A (p.Val768Ile)
c.1768G>A (p.Val590Ile)
c.859G>A (p.Val287Ile)
n.845G>A
c.2458G>A (p.Val820Ile)
c.*1458G>A (n.*1458G>A)
c.1935G>A
c.2383G>A (p.Val795Ile)
c.*1416G>A (n.*1416G>A)
c.1015G>A (p.Val339Ile)
c.2539G>A (p.Val847Ile)
c.1303G>A (p.Val435Ile)
c.2341G>A (p.Val781Ile)
c.1495G>A (p.Val499Ile)
c.1450G>A (p.Val484Ile)
c.1282G>A (p.Val428Ile)
c.1156G>A (p.Val386Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32640279G>CCA384372228FGD4c.2047G>C (p.Val683Leu)
c.2302G>C (p.Val768Leu)
c.1768G>C (p.Val590Leu)
c.859G>C (p.Val287Leu)
n.845G>C
c.2458G>C (p.Val820Leu)
c.*1458G>C (n.*1458G>C)
c.1935G>C
c.2383G>C (p.Val795Leu)
c.*1416G>C (n.*1416G>C)
c.1015G>C (p.Val339Leu)
c.2539G>C (p.Val847Leu)
c.1303G>C (p.Val435Leu)
c.2341G>C (p.Val781Leu)
c.1495G>C (p.Val499Leu)
c.1450G>C (p.Val484Leu)
c.1282G>C (p.Val428Leu)
c.1156G>C (p.Val386Leu)
12g.32640279G=CA2026264566FGD4c.2047G= (p.Val683=)
c.2302G= (p.Val768=)
c.1768G= (p.Val590=)
c.859G= (p.Val287=)
n.845G=
c.2458G= (p.Val820=)
c.*1458G= (n.*1458G=)
c.1935G=
c.2383G= (p.Val795=)
c.*1416G= (n.*1416G=)
c.1015G= (p.Val339=)
c.2539G= (p.Val847=)
c.1303G= (p.Val435=)
c.2341G= (p.Val781=)
c.1495G= (p.Val499=)
c.1450G= (p.Val484=)
c.1282G= (p.Val428=)
c.1156G= (p.Val386=)
12g.32640279G>TCA384372227FGD4c.2047G>T (p.Val683Phe)
c.2302G>T (p.Val768Phe)
c.1768G>T (p.Val590Phe)
c.859G>T (p.Val287Phe)
n.845G>T
c.2458G>T (p.Val820Phe)
c.*1458G>T (n.*1458G>T)
c.1935G>T
c.2383G>T (p.Val795Phe)
c.*1416G>T (n.*1416G>T)
c.1015G>T (p.Val339Phe)
c.2539G>T (p.Val847Phe)
c.1303G>T (p.Val435Phe)
c.2341G>T (p.Val781Phe)
c.1495G>T (p.Val499Phe)
c.1450G>T (p.Val484Phe)
c.1282G>T (p.Val428Phe)
c.1156G>T (p.Val386Phe)
 dbSNP
12g.32640280T>ACA384372229FGD4c.2048T>A (p.Val683Asp)
c.2303T>A (p.Val768Asp)
c.1769T>A (p.Val590Asp)
c.860T>A (p.Val287Asp)
n.846T>A
c.2459T>A (p.Val820Asp)
c.*1459T>A (n.*1459T>A)
c.1936T>A
c.2384T>A (p.Val795Asp)
c.*1417T>A (n.*1417T>A)
c.1016T>A (p.Val339Asp)
c.2540T>A (p.Val847Asp)
c.1304T>A (p.Val435Asp)
c.2342T>A (p.Val781Asp)
c.1496T>A (p.Val499Asp)
c.1451T>A (p.Val484Asp)
c.1283T>A (p.Val428Asp)
c.1157T>A (p.Val386Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.32640280T>CCA384372231FGD4c.2048T>C (p.Val683Ala)
c.2303T>C (p.Val768Ala)
c.1769T>C (p.Val590Ala)
c.860T>C (p.Val287Ala)
n.846T>C
c.2459T>C (p.Val820Ala)
c.*1459T>C (n.*1459T>C)
c.1936T>C
c.2384T>C (p.Val795Ala)
c.*1417T>C (n.*1417T>C)
c.1016T>C (p.Val339Ala)
c.2540T>C (p.Val847Ala)
c.1304T>C (p.Val435Ala)
c.2342T>C (p.Val781Ala)
c.1496T>C (p.Val499Ala)
c.1451T>C (p.Val484Ala)
c.1283T>C (p.Val428Ala)
c.1157T>C (p.Val386Ala)
12g.32640280T>GCA384372230FGD4c.2048T>G (p.Val683Gly)
c.2303T>G (p.Val768Gly)
c.1769T>G (p.Val590Gly)
c.860T>G (p.Val287Gly)
n.846T>G
c.2459T>G (p.Val820Gly)
c.*1459T>G (n.*1459T>G)
c.1936T>G
c.2384T>G (p.Val795Gly)
c.*1417T>G (n.*1417T>G)
c.1016T>G (p.Val339Gly)
c.2540T>G (p.Val847Gly)
c.1304T>G (p.Val435Gly)
c.2342T>G (p.Val781Gly)
c.1496T>G (p.Val499Gly)
c.1451T>G (p.Val484Gly)
c.1283T>G (p.Val428Gly)
c.1157T>G (p.Val386Gly)
12g.32640280T=CA2026264570FGD4c.2048T= (p.Val683=)
c.2303T= (p.Val768=)
c.1769T= (p.Val590=)
c.860T= (p.Val287=)
n.846T=
c.2459T= (p.Val820=)
c.*1459T= (n.*1459T=)
c.1936T=
c.2384T= (p.Val795=)
c.*1417T= (n.*1417T=)
c.1016T= (p.Val339=)
c.2540T= (p.Val847=)
c.1304T= (p.Val435=)
c.2342T= (p.Val781=)
c.1496T= (p.Val499=)
c.1451T= (p.Val484=)
c.1283T= (p.Val428=)
c.1157T= (p.Val386=)
12g.32640281C>ACA479386453FGD4c.2049C>A (p.Val683=)
c.2304C>A (p.Val768=)
c.1770C>A (p.Val590=)
c.861C>A (p.Val287=)
n.847C>A
c.2460C>A (p.Val820=)
c.*1460C>A (n.*1460C>A)
c.1937C>A
c.2385C>A (p.Val795=)
c.*1418C>A (n.*1418C>A)
c.1017C>A (p.Val339=)
c.2541C>A (p.Val847=)
c.1305C>A (p.Val435=)
c.2343C>A (p.Val781=)
c.1497C>A (p.Val499=)
c.1452C>A (p.Val484=)
c.1284C>A (p.Val428=)
c.1158C>A (p.Val386=)
12g.32640281C>GCA479386457FGD4c.2049C>G (p.Val683=)
c.2304C>G (p.Val768=)
c.1770C>G (p.Val590=)
c.861C>G (p.Val287=)
n.847C>G
c.2460C>G (p.Val820=)
c.*1460C>G (n.*1460C>G)
c.1937C>G
c.2385C>G (p.Val795=)
c.*1418C>G (n.*1418C>G)
c.1017C>G (p.Val339=)
c.2541C>G (p.Val847=)
c.1305C>G (p.Val435=)
c.2343C>G (p.Val781=)
c.1497C>G (p.Val499=)
c.1452C>G (p.Val484=)
c.1284C>G (p.Val428=)
c.1158C>G (p.Val386=)
12g.32640281C>TCA479386455FGD4c.2049C>T (p.Val683=)
c.2304C>T (p.Val768=)
c.1770C>T (p.Val590=)
c.861C>T (p.Val287=)
n.847C>T
c.2460C>T (p.Val820=)
c.*1460C>T (n.*1460C>T)
c.1937C>T
c.2385C>T (p.Val795=)
c.*1418C>T (n.*1418C>T)
c.1017C>T (p.Val339=)
c.2541C>T (p.Val847=)
c.1305C>T (p.Val435=)
c.2343C>T (p.Val781=)
c.1497C>T (p.Val499=)
c.1452C>T (p.Val484=)
c.1284C>T (p.Val428=)
c.1158C>T (p.Val386=)
12g.32640282A>CCA479386458FGD4c.2050A>C (p.Arg684=)
c.2305A>C (p.Arg769=)
c.1771A>C (p.Arg591=)
c.862A>C (p.Arg288=)
n.848A>C
c.2461A>C (p.Arg821=)
c.*1461A>C (n.*1461A>C)
c.1938A>C
c.2386A>C (p.Arg796=)
c.*1419A>C (n.*1419A>C)
c.1018A>C (p.Arg340=)
c.2542A>C (p.Arg848=)
c.1306A>C (p.Arg436=)
c.2344A>C (p.Arg782=)
c.1498A>C (p.Arg500=)
c.1453A>C (p.Arg485=)
c.1285A>C (p.Arg429=)
c.1159A>C (p.Arg387=)
12g.32640282A>GCA384372232FGD4c.2050A>G (p.Arg684Gly)
c.2305A>G (p.Arg769Gly)
c.1771A>G (p.Arg591Gly)
c.862A>G (p.Arg288Gly)
n.848A>G
c.2461A>G (p.Arg821Gly)
c.*1461A>G (n.*1461A>G)
c.1938A>G
c.2386A>G (p.Arg796Gly)
c.*1419A>G (n.*1419A>G)
c.1018A>G (p.Arg340Gly)
c.2542A>G (p.Arg848Gly)
c.1306A>G (p.Arg436Gly)
c.2344A>G (p.Arg782Gly)
c.1498A>G (p.Arg500Gly)
c.1453A>G (p.Arg485Gly)
c.1285A>G (p.Arg429Gly)
c.1159A>G (p.Arg387Gly)
 COSMIC
12g.32640282A>TCA384372233FGD4c.2050A>T (p.Arg684Ter)
c.2305A>T (p.Arg769Ter)
c.1771A>T (p.Arg591Ter)
c.862A>T (p.Arg288Ter)
n.848A>T
c.2461A>T (p.Arg821Ter)
c.*1461A>T (n.*1461A>T)
c.1938A>T
c.2386A>T (p.Arg796Ter)
c.*1419A>T (n.*1419A>T)
c.1018A>T (p.Arg340Ter)
c.2542A>T (p.Arg848Ter)
c.1306A>T (p.Arg436Ter)
c.2344A>T (p.Arg782Ter)
c.1498A>T (p.Arg500Ter)
c.1453A>T (p.Arg485Ter)
c.1285A>T (p.Arg429Ter)
c.1159A>T (p.Arg387Ter)
12g.32640283G>ACA384372234FGD4c.2051G>A (p.Arg684Lys)
c.2306G>A (p.Arg769Lys)
c.1772G>A (p.Arg591Lys)
c.863G>A (p.Arg288Lys)
n.849G>A
c.2462G>A (p.Arg821Lys)
c.*1462G>A (n.*1462G>A)
c.1939G>A
c.2387G>A (p.Arg796Lys)
c.*1420G>A (n.*1420G>A)
c.1019G>A (p.Arg340Lys)
c.2543G>A (p.Arg848Lys)
c.1307G>A (p.Arg436Lys)
c.2345G>A (p.Arg782Lys)
c.1499G>A (p.Arg500Lys)
c.1454G>A (p.Arg485Lys)
c.1286G>A (p.Arg429Lys)
c.1160G>A (p.Arg387Lys)
12g.32640283G>CCA384372235FGD4c.2051G>C (p.Arg684Thr)
c.2306G>C (p.Arg769Thr)
c.1772G>C (p.Arg591Thr)
c.863G>C (p.Arg288Thr)
n.849G>C
c.2462G>C (p.Arg821Thr)
c.*1462G>C (n.*1462G>C)
c.1939G>C
c.2387G>C (p.Arg796Thr)
c.*1420G>C (n.*1420G>C)
c.1019G>C (p.Arg340Thr)
c.2543G>C (p.Arg848Thr)
c.1307G>C (p.Arg436Thr)
c.2345G>C (p.Arg782Thr)
c.1499G>C (p.Arg500Thr)
c.1454G>C (p.Arg485Thr)
c.1286G>C (p.Arg429Thr)
c.1160G>C (p.Arg387Thr)
 dbSNP COSMIC
12g.32640283G>TCA384372236FGD4c.2051G>T (p.Arg684Ile)
c.2306G>T (p.Arg769Ile)
c.1772G>T (p.Arg591Ile)
c.863G>T (p.Arg288Ile)
n.849G>T
c.2462G>T (p.Arg821Ile)
c.*1462G>T (n.*1462G>T)
c.1939G>T
c.2387G>T (p.Arg796Ile)
c.*1420G>T (n.*1420G>T)
c.1019G>T (p.Arg340Ile)
c.2543G>T (p.Arg848Ile)
c.1307G>T (p.Arg436Ile)
c.2345G>T (p.Arg782Ile)
c.1499G>T (p.Arg500Ile)
c.1454G>T (p.Arg485Ile)
c.1286G>T (p.Arg429Ile)
c.1160G>T (p.Arg387Ile)
12g.32640284A>CCA384372237FGD4c.2052A>C (p.Arg684Ser)
c.2307A>C (p.Arg769Ser)
c.1773A>C (p.Arg591Ser)
c.864A>C (p.Arg288Ser)
n.850A>C
c.2463A>C (p.Arg821Ser)
c.*1463A>C (n.*1463A>C)
c.1940A>C
c.2388A>C (p.Arg796Ser)
c.*1421A>C (n.*1421A>C)
c.1020A>C (p.Arg340Ser)
c.2544A>C (p.Arg848Ser)
c.1308A>C (p.Arg436Ser)
c.2346A>C (p.Arg782Ser)
c.1500A>C (p.Arg500Ser)
c.1455A>C (p.Arg485Ser)
c.1287A>C (p.Arg429Ser)
c.1161A>C (p.Arg387Ser)
12g.32640284A>GCA479386465FGD4c.2052A>G (p.Arg684=)
c.2307A>G (p.Arg769=)
c.1773A>G (p.Arg591=)
c.864A>G (p.Arg288=)
n.850A>G
c.2463A>G (p.Arg821=)
c.*1463A>G (n.*1463A>G)
c.1940A>G
c.2388A>G (p.Arg796=)
c.*1421A>G (n.*1421A>G)
c.1020A>G (p.Arg340=)
c.2544A>G (p.Arg848=)
c.1308A>G (p.Arg436=)
c.2346A>G (p.Arg782=)
c.1500A>G (p.Arg500=)
c.1455A>G (p.Arg485=)
c.1287A>G (p.Arg429=)
c.1161A>G (p.Arg387=)
12g.32640284A>TCA384372238FGD4c.2052A>T (p.Arg684Ser)
c.2307A>T (p.Arg769Ser)
c.1773A>T (p.Arg591Ser)
c.864A>T (p.Arg288Ser)
n.850A>T
c.2463A>T (p.Arg821Ser)
c.*1463A>T (n.*1463A>T)
c.1940A>T
c.2388A>T (p.Arg796Ser)
c.*1421A>T (n.*1421A>T)
c.1020A>T (p.Arg340Ser)
c.2544A>T (p.Arg848Ser)
c.1308A>T (p.Arg436Ser)
c.2346A>T (p.Arg782Ser)
c.1500A>T (p.Arg500Ser)
c.1455A>T (p.Arg485Ser)
c.1287A>T (p.Arg429Ser)
c.1161A>T (p.Arg387Ser)
12g.32640285G>ACA384372239FGD4c.2053G>A (p.Ala685Thr)
c.2308G>A (p.Ala770Thr)
c.1774G>A (p.Ala592Thr)
c.865G>A (p.Ala289Thr)
n.851G>A
c.2464G>A (p.Ala822Thr)
c.*1464G>A (n.*1464G>A)
c.1941G>A
c.2389G>A (p.Ala797Thr)
c.*1422G>A (n.*1422G>A)
c.1021G>A (p.Ala341Thr)
c.2545G>A (p.Ala849Thr)
c.1309G>A (p.Ala437Thr)
c.2347G>A (p.Ala783Thr)
c.1501G>A (p.Ala501Thr)
c.1456G>A (p.Ala486Thr)
c.1288G>A (p.Ala430Thr)
c.1162G>A (p.Ala388Thr)
 COSMIC
12g.32640285G>CCA384372240FGD4c.2053G>C (p.Ala685Pro)
c.2308G>C (p.Ala770Pro)
c.1774G>C (p.Ala592Pro)
c.865G>C (p.Ala289Pro)
n.851G>C
c.2464G>C (p.Ala822Pro)
c.*1464G>C (n.*1464G>C)
c.1941G>C
c.2389G>C (p.Ala797Pro)
c.*1422G>C (n.*1422G>C)
c.1021G>C (p.Ala341Pro)
c.2545G>C (p.Ala849Pro)
c.1309G>C (p.Ala437Pro)
c.2347G>C (p.Ala783Pro)
c.1501G>C (p.Ala501Pro)
c.1456G>C (p.Ala486Pro)
c.1288G>C (p.Ala430Pro)
c.1162G>C (p.Ala388Pro)
 dbSNP gnomAD v4
12g.32640285G=CA2026264575FGD4c.2053G= (p.Ala685=)
c.2308G= (p.Ala770=)
c.1774G= (p.Ala592=)
c.865G= (p.Ala289=)
n.851G=
c.2464G= (p.Ala822=)
c.*1464G= (n.*1464G=)
c.1941G=
c.2389G= (p.Ala797=)
c.*1422G= (n.*1422G=)
c.1021G= (p.Ala341=)
c.2545G= (p.Ala849=)
c.1309G= (p.Ala437=)
c.2347G= (p.Ala783=)
c.1501G= (p.Ala501=)
c.1456G= (p.Ala486=)
c.1288G= (p.Ala430=)
c.1162G= (p.Ala388=)
12g.32640285G>TCA384372241FGD4c.2053G>T (p.Ala685Ser)
c.2308G>T (p.Ala770Ser)
c.1774G>T (p.Ala592Ser)
c.865G>T (p.Ala289Ser)
n.851G>T
c.2464G>T (p.Ala822Ser)
c.*1464G>T (n.*1464G>T)
c.1941G>T
c.2389G>T (p.Ala797Ser)
c.*1422G>T (n.*1422G>T)
c.1021G>T (p.Ala341Ser)
c.2545G>T (p.Ala849Ser)
c.1309G>T (p.Ala437Ser)
c.2347G>T (p.Ala783Ser)
c.1501G>T (p.Ala501Ser)
c.1456G>T (p.Ala486Ser)
c.1288G>T (p.Ala430Ser)
c.1162G>T (p.Ala388Ser)
12g.32640286C>ACA384372242FGD4c.2054C>A (p.Ala685Asp)
c.2309C>A (p.Ala770Asp)
c.1775C>A (p.Ala592Asp)
c.866C>A (p.Ala289Asp)
n.852C>A
c.2465C>A (p.Ala822Asp)
c.*1465C>A (n.*1465C>A)
c.1942C>A
c.2390C>A (p.Ala797Asp)
c.*1423C>A (n.*1423C>A)
c.1022C>A (p.Ala341Asp)
c.2546C>A (p.Ala849Asp)
c.1310C>A (p.Ala437Asp)
c.2348C>A (p.Ala783Asp)
c.1502C>A (p.Ala501Asp)
c.1457C>A (p.Ala486Asp)
c.1289C>A (p.Ala430Asp)
c.1163C>A (p.Ala388Asp)
12g.32640286C>GCA384372243FGD4c.2054C>G (p.Ala685Gly)
c.2309C>G (p.Ala770Gly)
c.1775C>G (p.Ala592Gly)
c.866C>G (p.Ala289Gly)
n.852C>G
c.2465C>G (p.Ala822Gly)
c.*1465C>G (n.*1465C>G)
c.1942C>G
c.2390C>G (p.Ala797Gly)
c.*1423C>G (n.*1423C>G)
c.1022C>G (p.Ala341Gly)
c.2546C>G (p.Ala849Gly)
c.1310C>G (p.Ala437Gly)
c.2348C>G (p.Ala783Gly)
c.1502C>G (p.Ala501Gly)
c.1457C>G (p.Ala486Gly)
c.1289C>G (p.Ala430Gly)
c.1163C>G (p.Ala388Gly)
12g.32640286C>TCA384372244FGD4c.2054C>T (p.Ala685Val)
c.2309C>T (p.Ala770Val)
c.1775C>T (p.Ala592Val)
c.866C>T (p.Ala289Val)
n.852C>T
c.2465C>T (p.Ala822Val)
c.*1465C>T (n.*1465C>T)
c.1942C>T
c.2390C>T (p.Ala797Val)
c.*1423C>T (n.*1423C>T)
c.1022C>T (p.Ala341Val)
c.2546C>T (p.Ala849Val)
c.1310C>T (p.Ala437Val)
c.2348C>T (p.Ala783Val)
c.1502C>T (p.Ala501Val)
c.1457C>T (p.Ala486Val)
c.1289C>T (p.Ala430Val)
c.1163C>T (p.Ala388Val)
 COSMIC
12g.32640287C>ACA479386467FGD4c.2055C>A (p.Ala685=)
c.2310C>A (p.Ala770=)
c.1776C>A (p.Ala592=)
c.867C>A (p.Ala289=)
n.853C>A
c.2466C>A (p.Ala822=)
c.*1466C>A (n.*1466C>A)
c.1943C>A
c.2391C>A (p.Ala797=)
c.*1424C>A (n.*1424C>A)
c.1023C>A (p.Ala341=)
c.2547C>A (p.Ala849=)
c.1311C>A (p.Ala437=)
c.2349C>A (p.Ala783=)
c.1503C>A (p.Ala501=)
c.1458C>A (p.Ala486=)
c.1290C>A (p.Ala430=)
c.1164C>A (p.Ala388=)
12g.32640287C>GCA479386470FGD4c.2055C>G (p.Ala685=)
c.2310C>G (p.Ala770=)
c.1776C>G (p.Ala592=)
c.867C>G (p.Ala289=)
n.853C>G
c.2466C>G (p.Ala822=)
c.*1466C>G (n.*1466C>G)
c.1943C>G
c.2391C>G (p.Ala797=)
c.*1424C>G (n.*1424C>G)
c.1023C>G (p.Ala341=)
c.2547C>G (p.Ala849=)
c.1311C>G (p.Ala437=)
c.2349C>G (p.Ala783=)
c.1503C>G (p.Ala501=)
c.1458C>G (p.Ala486=)
c.1290C>G (p.Ala430=)
c.1164C>G (p.Ala388=)
12g.32640287C>TCA479386471FGD4c.2055C>T (p.Ala685=)
c.2310C>T (p.Ala770=)
c.1776C>T (p.Ala592=)
c.867C>T (p.Ala289=)
n.853C>T
c.2466C>T (p.Ala822=)
c.*1466C>T (n.*1466C>T)
c.1943C>T
c.2391C>T (p.Ala797=)
c.*1424C>T (n.*1424C>T)
c.1023C>T (p.Ala341=)
c.2547C>T (p.Ala849=)
c.1311C>T (p.Ala437=)
c.2349C>T (p.Ala783=)
c.1503C>T (p.Ala501=)
c.1458C>T (p.Ala486=)
c.1290C>T (p.Ala430=)
c.1164C>T (p.Ala388=)
12g.32640288C>ACA384372245FGD4c.2056C>A (p.Gln686Lys)
c.2311C>A (p.Gln771Lys)
c.1777C>A (p.Gln593Lys)
c.868C>A (p.Gln290Lys)
n.854C>A
c.2467C>A (p.Gln823Lys)
c.*1467C>A (n.*1467C>A)
c.1944C>A
c.2392C>A (p.Gln798Lys)
c.*1425C>A (n.*1425C>A)
c.1024C>A (p.Gln342Lys)
c.2548C>A (p.Gln850Lys)
c.1312C>A (p.Gln438Lys)
c.2350C>A (p.Gln784Lys)
c.1504C>A (p.Gln502Lys)
c.1459C>A (p.Gln487Lys)
c.1291C>A (p.Gln431Lys)
c.1165C>A (p.Gln389Lys)
12g.32640288C>GCA384372247FGD4c.2056C>G (p.Gln686Glu)
c.2311C>G (p.Gln771Glu)
c.1777C>G (p.Gln593Glu)
c.868C>G (p.Gln290Glu)
n.854C>G
c.2467C>G (p.Gln823Glu)
c.*1467C>G (n.*1467C>G)
c.1944C>G
c.2392C>G (p.Gln798Glu)
c.*1425C>G (n.*1425C>G)
c.1024C>G (p.Gln342Glu)
c.2548C>G (p.Gln850Glu)
c.1312C>G (p.Gln438Glu)
c.2350C>G (p.Gln784Glu)
c.1504C>G (p.Gln502Glu)
c.1459C>G (p.Gln487Glu)
c.1291C>G (p.Gln431Glu)
c.1165C>G (p.Gln389Glu)
12g.32640288C>TCA384372246FGD4c.2056C>T (p.Gln686Ter)
c.2311C>T (p.Gln771Ter)
c.1777C>T (p.Gln593Ter)
c.868C>T (p.Gln290Ter)
n.854C>T
c.2467C>T (p.Gln823Ter)
c.*1467C>T (n.*1467C>T)
c.1944C>T
c.2392C>T (p.Gln798Ter)
c.*1425C>T (n.*1425C>T)
c.1024C>T (p.Gln342Ter)
c.2548C>T (p.Gln850Ter)
c.1312C>T (p.Gln438Ter)
c.2350C>T (p.Gln784Ter)
c.1504C>T (p.Gln502Ter)
c.1459C>T (p.Gln487Ter)
c.1291C>T (p.Gln431Ter)
c.1165C>T (p.Gln389Ter)
12g.32640289A>CCA384372248FGD4c.2057A>C (p.Gln686Pro)
c.2312A>C (p.Gln771Pro)
c.1778A>C (p.Gln593Pro)
c.869A>C (p.Gln290Pro)
n.855A>C
c.2468A>C (p.Gln823Pro)
c.*1468A>C (n.*1468A>C)
c.1945A>C
c.2393A>C (p.Gln798Pro)
c.*1426A>C (n.*1426A>C)
c.1025A>C (p.Gln342Pro)
c.2549A>C (p.Gln850Pro)
c.1313A>C (p.Gln438Pro)
c.2351A>C (p.Gln784Pro)
c.1505A>C (p.Gln502Pro)
c.1460A>C (p.Gln487Pro)
c.1292A>C (p.Gln431Pro)
c.1166A>C (p.Gln389Pro)
12g.32640289A>GCA384372249FGD4c.2057A>G (p.Gln686Arg)
c.2312A>G (p.Gln771Arg)
c.1778A>G (p.Gln593Arg)
c.869A>G (p.Gln290Arg)
n.855A>G
c.2468A>G (p.Gln823Arg)
c.*1468A>G (n.*1468A>G)
c.1945A>G
c.2393A>G (p.Gln798Arg)
c.*1426A>G (n.*1426A>G)
c.1025A>G (p.Gln342Arg)
c.2549A>G (p.Gln850Arg)
c.1313A>G (p.Gln438Arg)
c.2351A>G (p.Gln784Arg)
c.1505A>G (p.Gln502Arg)
c.1460A>G (p.Gln487Arg)
c.1292A>G (p.Gln431Arg)
c.1166A>G (p.Gln389Arg)
 gnomAD v4
12g.32640289A>TCA384372250FGD4c.2057A>T (p.Gln686Leu)
c.2312A>T (p.Gln771Leu)
c.1778A>T (p.Gln593Leu)
c.869A>T (p.Gln290Leu)
n.855A>T
c.2468A>T (p.Gln823Leu)
c.*1468A>T (n.*1468A>T)
c.1945A>T
c.2393A>T (p.Gln798Leu)
c.*1426A>T (n.*1426A>T)
c.1025A>T (p.Gln342Leu)
c.2549A>T (p.Gln850Leu)
c.1313A>T (p.Gln438Leu)
c.2351A>T (p.Gln784Leu)
c.1505A>T (p.Gln502Leu)
c.1460A>T (p.Gln487Leu)
c.1292A>T (p.Gln431Leu)
c.1166A>T (p.Gln389Leu)
12g.32640290G>ACA479386472FGD4c.2058G>A (p.Gln686=)
c.2313G>A (p.Gln771=)
c.1779G>A (p.Gln593=)
c.870G>A (p.Gln290=)
n.856G>A
c.2469G>A (p.Gln823=)
c.*1469G>A (n.*1469G>A)
c.1946G>A
c.2394G>A (p.Gln798=)
c.*1427G>A (n.*1427G>A)
c.1026G>A (p.Gln342=)
c.2550G>A (p.Gln850=)
c.1314G>A (p.Gln438=)
c.2352G>A (p.Gln784=)
c.1506G>A (p.Gln502=)
c.1461G>A (p.Gln487=)
c.1293G>A (p.Gln431=)
c.1167G>A (p.Gln389=)
 gnomAD v4
12g.32640290G>CCA384372251FGD4c.2058G>C (p.Gln686His)
c.2313G>C (p.Gln771His)
c.1779G>C (p.Gln593His)
c.870G>C (p.Gln290His)
n.856G>C
c.2469G>C (p.Gln823His)
c.*1469G>C (n.*1469G>C)
c.1946G>C
c.2394G>C (p.Gln798His)
c.*1427G>C (n.*1427G>C)
c.1026G>C (p.Gln342His)
c.2550G>C (p.Gln850His)
c.1314G>C (p.Gln438His)
c.2352G>C (p.Gln784His)
c.1506G>C (p.Gln502His)
c.1461G>C (p.Gln487His)
c.1293G>C (p.Gln431His)
c.1167G>C (p.Gln389His)
12g.32640290G>TCA384372252FGD4c.2058G>T (p.Gln686His)
c.2313G>T (p.Gln771His)
c.1779G>T (p.Gln593His)
c.870G>T (p.Gln290His)
n.856G>T
c.2469G>T (p.Gln823His)
c.*1469G>T (n.*1469G>T)
c.1946G>T
c.2394G>T (p.Gln798His)
c.*1427G>T (n.*1427G>T)
c.1026G>T (p.Gln342His)
c.2550G>T (p.Gln850His)
c.1314G>T (p.Gln438His)
c.2352G>T (p.Gln784His)
c.1506G>T (p.Gln502His)
c.1461G>T (p.Gln487His)
c.1293G>T (p.Gln431His)
c.1167G>T (p.Gln389His)
12g.32640291G>ACA384372253FGD4c.2059G>A (p.Ala687Thr)
c.2314G>A (p.Ala772Thr)
c.1780G>A (p.Ala594Thr)
c.871G>A (p.Ala291Thr)
n.857G>A
c.2470G>A (p.Ala824Thr)
c.*1470G>A (n.*1470G>A)
c.1947G>A
c.2395G>A (p.Ala799Thr)
c.*1428G>A (n.*1428G>A)
c.1027G>A (p.Ala343Thr)
c.2551G>A (p.Ala851Thr)
c.1315G>A (p.Ala439Thr)
c.2353G>A (p.Ala785Thr)
c.1507G>A (p.Ala503Thr)
c.1462G>A (p.Ala488Thr)
c.1294G>A (p.Ala432Thr)
c.1168G>A (p.Ala390Thr)
12g.32640291G>CCA384372254FGD4c.2059G>C (p.Ala687Pro)
c.2314G>C (p.Ala772Pro)
c.1780G>C (p.Ala594Pro)
c.871G>C (p.Ala291Pro)
n.857G>C
c.2470G>C (p.Ala824Pro)
c.*1470G>C (n.*1470G>C)
c.1947G>C
c.2395G>C (p.Ala799Pro)
c.*1428G>C (n.*1428G>C)
c.1027G>C (p.Ala343Pro)
c.2551G>C (p.Ala851Pro)
c.1315G>C (p.Ala439Pro)
c.2353G>C (p.Ala785Pro)
c.1507G>C (p.Ala503Pro)
c.1462G>C (p.Ala488Pro)
c.1294G>C (p.Ala432Pro)
c.1168G>C (p.Ala390Pro)
12g.32640291G>TCA384372255FGD4c.2059G>T (p.Ala687Ser)
c.2314G>T (p.Ala772Ser)
c.1780G>T (p.Ala594Ser)
c.871G>T (p.Ala291Ser)
n.857G>T
c.2470G>T (p.Ala824Ser)
c.*1470G>T (n.*1470G>T)
c.1947G>T
c.2395G>T (p.Ala799Ser)
c.*1428G>T (n.*1428G>T)
c.1027G>T (p.Ala343Ser)
c.2551G>T (p.Ala851Ser)
c.1315G>T (p.Ala439Ser)
c.2353G>T (p.Ala785Ser)
c.1507G>T (p.Ala503Ser)
c.1462G>T (p.Ala488Ser)
c.1294G>T (p.Ala432Ser)
c.1168G>T (p.Ala390Ser)
12g.32640292C>ACA384372256FGD4c.2060C>A (p.Ala687Asp)
c.2315C>A (p.Ala772Asp)
c.1781C>A (p.Ala594Asp)
c.872C>A (p.Ala291Asp)
n.858C>A
c.2471C>A (p.Ala824Asp)
c.*1471C>A (n.*1471C>A)
c.1948C>A
c.2396C>A (p.Ala799Asp)
c.*1429C>A (n.*1429C>A)
c.1028C>A (p.Ala343Asp)
c.2552C>A (p.Ala851Asp)
c.1316C>A (p.Ala439Asp)
c.2354C>A (p.Ala785Asp)
c.1508C>A (p.Ala503Asp)
c.1463C>A (p.Ala488Asp)
c.1295C>A (p.Ala432Asp)
c.1169C>A (p.Ala390Asp)
12g.32640292C=CA2026264581FGD4c.2060C= (p.Ala687=)
c.2315C= (p.Ala772=)
c.1781C= (p.Ala594=)
c.872C= (p.Ala291=)
n.858C=
c.2471C= (p.Ala824=)
c.*1471C= (n.*1471C=)
c.1948C=
c.2396C= (p.Ala799=)
c.*1429C= (n.*1429C=)
c.1028C= (p.Ala343=)
c.2552C= (p.Ala851=)
c.1316C= (p.Ala439=)
c.2354C= (p.Ala785=)
c.1508C= (p.Ala503=)
c.1463C= (p.Ala488=)
c.1295C= (p.Ala432=)
c.1169C= (p.Ala390=)
12g.32640292C>GCA6507109FGD4c.2060C>G (p.Ala687Gly)
c.2315C>G (p.Ala772Gly)
c.1781C>G (p.Ala594Gly)
c.872C>G (p.Ala291Gly)
n.858C>G
c.2471C>G (p.Ala824Gly)
c.*1471C>G (n.*1471C>G)
c.1948C>G
c.2396C>G (p.Ala799Gly)
c.*1429C>G (n.*1429C>G)
c.1028C>G (p.Ala343Gly)
c.2552C>G (p.Ala851Gly)
c.1316C>G (p.Ala439Gly)
c.2354C>G (p.Ala785Gly)
c.1508C>G (p.Ala503Gly)
c.1463C>G (p.Ala488Gly)
c.1295C>G (p.Ala432Gly)
c.1169C>G (p.Ala390Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32640292C>TCA384372257FGD4c.2060C>T (p.Ala687Val)
c.2315C>T (p.Ala772Val)
c.1781C>T (p.Ala594Val)
c.872C>T (p.Ala291Val)
n.858C>T
c.2471C>T (p.Ala824Val)
c.*1471C>T (n.*1471C>T)
c.1948C>T
c.2396C>T (p.Ala799Val)
c.*1429C>T (n.*1429C>T)
c.1028C>T (p.Ala343Val)
c.2552C>T (p.Ala851Val)
c.1316C>T (p.Ala439Val)
c.2354C>T (p.Ala785Val)
c.1508C>T (p.Ala503Val)
c.1463C>T (p.Ala488Val)
c.1295C>T (p.Ala432Val)
c.1169C>T (p.Ala390Val)
 COSMIC
12g.32640293C>ACA479386474FGD4c.2061C>A (p.Ala687=)
c.2316C>A (p.Ala772=)
c.1782C>A (p.Ala594=)
c.873C>A (p.Ala291=)
n.859C>A
c.2472C>A (p.Ala824=)
c.*1472C>A (n.*1472C>A)
c.1949C>A
c.2397C>A (p.Ala799=)
c.*1430C>A (n.*1430C>A)
c.1029C>A (p.Ala343=)
c.2553C>A (p.Ala851=)
c.1317C>A (p.Ala439=)
c.2355C>A (p.Ala785=)
c.1509C>A (p.Ala503=)
c.1464C>A (p.Ala488=)
c.1296C>A (p.Ala432=)
c.1170C>A (p.Ala390=)
12g.32640293C=CA2026264585FGD4c.2061C= (p.Ala687=)
c.2316C= (p.Ala772=)
c.1782C= (p.Ala594=)
c.873C= (p.Ala291=)
n.859C=
c.2472C= (p.Ala824=)
c.*1472C= (n.*1472C=)
c.1949C=
c.2397C= (p.Ala799=)
c.*1430C= (n.*1430C=)
c.1029C= (p.Ala343=)
c.2553C= (p.Ala851=)
c.1317C= (p.Ala439=)
c.2355C= (p.Ala785=)
c.1509C= (p.Ala503=)
c.1464C= (p.Ala488=)
c.1296C= (p.Ala432=)
c.1170C= (p.Ala390=)
12g.32640293C>GCA479386475FGD4c.2061C>G (p.Ala687=)
c.2316C>G (p.Ala772=)
c.1782C>G (p.Ala594=)
c.873C>G (p.Ala291=)
n.859C>G
c.2472C>G (p.Ala824=)
c.*1472C>G (n.*1472C>G)
c.1949C>G
c.2397C>G (p.Ala799=)
c.*1430C>G (n.*1430C>G)
c.1029C>G (p.Ala343=)
c.2553C>G (p.Ala851=)
c.1317C>G (p.Ala439=)
c.2355C>G (p.Ala785=)
c.1509C>G (p.Ala503=)
c.1464C>G (p.Ala488=)
c.1296C>G (p.Ala432=)
c.1170C>G (p.Ala390=)
12g.32640293C>TCA235247838FGD4c.2061C>T (p.Ala687=)
c.2316C>T (p.Ala772=)
c.1782C>T (p.Ala594=)
c.873C>T (p.Ala291=)
n.859C>T
c.2472C>T (p.Ala824=)
c.*1472C>T (n.*1472C>T)
c.1949C>T
c.2397C>T (p.Ala799=)
c.*1430C>T (n.*1430C>T)
c.1029C>T (p.Ala343=)
c.2553C>T (p.Ala851=)
c.1317C>T (p.Ala439=)
c.2355C>T (p.Ala785=)
c.1509C>T (p.Ala503=)
c.1464C>T (p.Ala488=)
c.1296C>T (p.Ala432=)
c.1170C>T (p.Ala390=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.32640294A>CCA384372260FGD4c.2062A>C (p.Thr688Pro)
c.2317A>C (p.Thr773Pro)
c.1783A>C (p.Thr595Pro)
c.874A>C (p.Thr292Pro)
n.860A>C
c.2473A>C (p.Thr825Pro)
c.*1473A>C (n.*1473A>C)
c.1950A>C
c.2398A>C (p.Thr800Pro)
c.*1431A>C (n.*1431A>C)
c.1030A>C (p.Thr344Pro)
c.2554A>C (p.Thr852Pro)
c.1318A>C (p.Thr440Pro)
c.2356A>C (p.Thr786Pro)
c.1510A>C (p.Thr504Pro)
c.1465A>C (p.Thr489Pro)
c.1297A>C (p.Thr433Pro)
c.1171A>C (p.Thr391Pro)
12g.32640294A>GCA384372258FGD4c.2062A>G (p.Thr688Ala)
c.2317A>G (p.Thr773Ala)
c.1783A>G (p.Thr595Ala)
c.874A>G (p.Thr292Ala)
n.860A>G
c.2473A>G (p.Thr825Ala)
c.*1473A>G (n.*1473A>G)
c.1950A>G
c.2398A>G (p.Thr800Ala)
c.*1431A>G (n.*1431A>G)
c.1030A>G (p.Thr344Ala)
c.2554A>G (p.Thr852Ala)
c.1318A>G (p.Thr440Ala)
c.2356A>G (p.Thr786Ala)
c.1510A>G (p.Thr504Ala)
c.1465A>G (p.Thr489Ala)
c.1297A>G (p.Thr433Ala)
c.1171A>G (p.Thr391Ala)
12g.32640294A>TCA384372259FGD4c.2062A>T (p.Thr688Ser)
c.2317A>T (p.Thr773Ser)
c.1783A>T (p.Thr595Ser)
c.874A>T (p.Thr292Ser)
n.860A>T
c.2473A>T (p.Thr825Ser)
c.*1473A>T (n.*1473A>T)
c.1950A>T
c.2398A>T (p.Thr800Ser)
c.*1431A>T (n.*1431A>T)
c.1030A>T (p.Thr344Ser)
c.2554A>T (p.Thr852Ser)
c.1318A>T (p.Thr440Ser)
c.2356A>T (p.Thr786Ser)
c.1510A>T (p.Thr504Ser)
c.1465A>T (p.Thr489Ser)
c.1297A>T (p.Thr433Ser)
c.1171A>T (p.Thr391Ser)
12g.32640295C>ACA384372261FGD4c.2063C>A (p.Thr688Asn)
c.2318C>A (p.Thr773Asn)
c.1784C>A (p.Thr595Asn)
c.875C>A (p.Thr292Asn)
n.861C>A
c.2474C>A (p.Thr825Asn)
c.*1474C>A (n.*1474C>A)
c.1951C>A
c.2399C>A (p.Thr800Asn)
c.*1432C>A (n.*1432C>A)
c.1031C>A (p.Thr344Asn)
c.2555C>A (p.Thr852Asn)
c.1319C>A (p.Thr440Asn)
c.2357C>A (p.Thr786Asn)
c.1511C>A (p.Thr504Asn)
c.1466C>A (p.Thr489Asn)
c.1298C>A (p.Thr433Asn)
c.1172C>A (p.Thr391Asn)
12g.32640295C=CA2026264587FGD4c.2063C= (p.Thr688=)
c.2318C= (p.Thr773=)
c.1784C= (p.Thr595=)
c.875C= (p.Thr292=)
n.861C=
c.2474C= (p.Thr825=)
c.*1474C= (n.*1474C=)
c.1951C=
c.2399C= (p.Thr800=)
c.*1432C= (n.*1432C=)
c.1031C= (p.Thr344=)
c.2555C= (p.Thr852=)
c.1319C= (p.Thr440=)
c.2357C= (p.Thr786=)
c.1511C= (p.Thr504=)
c.1466C= (p.Thr489=)
c.1298C= (p.Thr433=)
c.1172C= (p.Thr391=)
12g.32640295C>GCA384372262FGD4c.2063C>G (p.Thr688Ser)
c.2318C>G (p.Thr773Ser)
c.1784C>G (p.Thr595Ser)
c.875C>G (p.Thr292Ser)
n.861C>G
c.2474C>G (p.Thr825Ser)
c.*1474C>G (n.*1474C>G)
c.1951C>G
c.2399C>G (p.Thr800Ser)
c.*1432C>G (n.*1432C>G)
c.1031C>G (p.Thr344Ser)
c.2555C>G (p.Thr852Ser)
c.1319C>G (p.Thr440Ser)
c.2357C>G (p.Thr786Ser)
c.1511C>G (p.Thr504Ser)
c.1466C>G (p.Thr489Ser)
c.1298C>G (p.Thr433Ser)
c.1172C>G (p.Thr391Ser)
 dbSNP
12g.32640295C>TCA384372263FGD4c.2063C>T (p.Thr688Ile)
c.2318C>T (p.Thr773Ile)
c.1784C>T (p.Thr595Ile)
c.875C>T (p.Thr292Ile)
n.861C>T
c.2474C>T (p.Thr825Ile)
c.*1474C>T (n.*1474C>T)
c.1951C>T
c.2399C>T (p.Thr800Ile)
c.*1432C>T (n.*1432C>T)
c.1031C>T (p.Thr344Ile)
c.2555C>T (p.Thr852Ile)
c.1319C>T (p.Thr440Ile)
c.2357C>T (p.Thr786Ile)
c.1511C>T (p.Thr504Ile)
c.1466C>T (p.Thr489Ile)
c.1298C>T (p.Thr433Ile)
c.1172C>T (p.Thr391Ile)
12g.32640296C>ACA479386478FGD4c.2064C>A (p.Thr688=)
c.2319C>A (p.Thr773=)
c.1785C>A (p.Thr595=)
c.876C>A (p.Thr292=)
n.862C>A
c.2475C>A (p.Thr825=)
c.*1475C>A (n.*1475C>A)
c.1952C>A
c.2400C>A (p.Thr800=)
c.*1433C>A (n.*1433C>A)
c.1032C>A (p.Thr344=)
c.2556C>A (p.Thr852=)
c.1320C>A (p.Thr440=)
c.2358C>A (p.Thr786=)
c.1512C>A (p.Thr504=)
c.1467C>A (p.Thr489=)
c.1299C>A (p.Thr433=)
c.1173C>A (p.Thr391=)
12g.32640296C=CA2026264589FGD4c.2064C= (p.Thr688=)
c.2319C= (p.Thr773=)
c.1785C= (p.Thr595=)
c.876C= (p.Thr292=)
n.862C=
c.2475C= (p.Thr825=)
c.*1475C= (n.*1475C=)
c.1952C=
c.2400C= (p.Thr800=)
c.*1433C= (n.*1433C=)
c.1032C= (p.Thr344=)
c.2556C= (p.Thr852=)
c.1320C= (p.Thr440=)
c.2358C= (p.Thr786=)
c.1512C= (p.Thr504=)
c.1467C= (p.Thr489=)
c.1299C= (p.Thr433=)
c.1173C= (p.Thr391=)
12g.32640296C>GCA479386480FGD4c.2064C>G (p.Thr688=)
c.2319C>G (p.Thr773=)
c.1785C>G (p.Thr595=)
c.876C>G (p.Thr292=)
n.862C>G
c.2475C>G (p.Thr825=)
c.*1475C>G (n.*1475C>G)
c.1952C>G
c.2400C>G (p.Thr800=)
c.*1433C>G (n.*1433C>G)
c.1032C>G (p.Thr344=)
c.2556C>G (p.Thr852=)
c.1320C>G (p.Thr440=)
c.2358C>G (p.Thr786=)
c.1512C>G (p.Thr504=)
c.1467C>G (p.Thr489=)
c.1299C>G (p.Thr433=)
c.1173C>G (p.Thr391=)
12g.32640296C>TCA479386479FGD4c.2064C>T (p.Thr688=)
c.2319C>T (p.Thr773=)
c.1785C>T (p.Thr595=)
c.876C>T (p.Thr292=)
n.862C>T
c.2475C>T (p.Thr825=)
c.*1475C>T (n.*1475C>T)
c.1952C>T
c.2400C>T (p.Thr800=)
c.*1433C>T (n.*1433C>T)
c.1032C>T (p.Thr344=)
c.2556C>T (p.Thr852=)
c.1320C>T (p.Thr440=)
c.2358C>T (p.Thr786=)
c.1512C>T (p.Thr504=)
c.1467C>T (p.Thr489=)
c.1299C>T (p.Thr433=)
c.1173C>T (p.Thr391=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.32640297A>CCA384372264FGD4c.2065A>C (p.Ile689Leu)
c.2320A>C (p.Ile774Leu)
c.1786A>C (p.Ile596Leu)
c.877A>C (p.Ile293Leu)
n.863A>C
c.2476A>C (p.Ile826Leu)
c.*1476A>C (n.*1476A>C)
c.1953A>C
c.2401A>C (p.Ile801Leu)
c.*1434A>C (n.*1434A>C)
c.1033A>C (p.Ile345Leu)
c.2557A>C (p.Ile853Leu)
c.1321A>C (p.Ile441Leu)
c.2359A>C (p.Ile787Leu)
c.1513A>C (p.Ile505Leu)
c.1468A>C (p.Ile490Leu)
c.1300A>C (p.Ile434Leu)
c.1174A>C (p.Ile392Leu)
12g.32640297A>GCA384372265FGD4c.2065A>G (p.Ile689Val)
c.2320A>G (p.Ile774Val)
c.1786A>G (p.Ile596Val)
c.877A>G (p.Ile293Val)
n.863A>G
c.2476A>G (p.Ile826Val)
c.*1476A>G (n.*1476A>G)
c.1953A>G
c.2401A>G (p.Ile801Val)
c.*1434A>G (n.*1434A>G)
c.1033A>G (p.Ile345Val)
c.2557A>G (p.Ile853Val)
c.1321A>G (p.Ile441Val)
c.2359A>G (p.Ile787Val)
c.1513A>G (p.Ile505Val)
c.1468A>G (p.Ile490Val)
c.1300A>G (p.Ile434Val)
c.1174A>G (p.Ile392Val)
12g.32640297A>TCA384372266FGD4c.2065A>T (p.Ile689Phe)
c.2320A>T (p.Ile774Phe)
c.1786A>T (p.Ile596Phe)
c.877A>T (p.Ile293Phe)
n.863A>T
c.2476A>T (p.Ile826Phe)
c.*1476A>T (n.*1476A>T)
c.1953A>T
c.2401A>T (p.Ile801Phe)
c.*1434A>T (n.*1434A>T)
c.1033A>T (p.Ile345Phe)
c.2557A>T (p.Ile853Phe)
c.1321A>T (p.Ile441Phe)
c.2359A>T (p.Ile787Phe)
c.1513A>T (p.Ile505Phe)
c.1468A>T (p.Ile490Phe)
c.1300A>T (p.Ile434Phe)
c.1174A>T (p.Ile392Phe)
12g.32640298T>ACA384372267FGD4c.2066T>A (p.Ile689Asn)
c.2321T>A (p.Ile774Asn)
c.1787T>A (p.Ile596Asn)
c.878T>A (p.Ile293Asn)
n.864T>A
c.2477T>A (p.Ile826Asn)
c.*1477T>A (n.*1477T>A)
c.1954T>A
c.2402T>A (p.Ile801Asn)
c.*1435T>A (n.*1435T>A)
c.1034T>A (p.Ile345Asn)
c.2558T>A (p.Ile853Asn)
c.1322T>A (p.Ile441Asn)
c.2360T>A (p.Ile787Asn)
c.1514T>A (p.Ile505Asn)
c.1469T>A (p.Ile490Asn)
c.1301T>A (p.Ile434Asn)
c.1175T>A (p.Ile392Asn)
12g.32640298T>CCA384372268FGD4c.2066T>C (p.Ile689Thr)
c.2321T>C (p.Ile774Thr)
c.1787T>C (p.Ile596Thr)
c.878T>C (p.Ile293Thr)
n.864T>C
c.2477T>C (p.Ile826Thr)
c.*1477T>C (n.*1477T>C)
c.1954T>C
c.2402T>C (p.Ile801Thr)
c.*1435T>C (n.*1435T>C)
c.1034T>C (p.Ile345Thr)
c.2558T>C (p.Ile853Thr)
c.1322T>C (p.Ile441Thr)
c.2360T>C (p.Ile787Thr)
c.1514T>C (p.Ile505Thr)
c.1469T>C (p.Ile490Thr)
c.1301T>C (p.Ile434Thr)
c.1175T>C (p.Ile392Thr)
12g.32640298T>GCA384372269FGD4c.2066T>G (p.Ile689Ser)
c.2321T>G (p.Ile774Ser)
c.1787T>G (p.Ile596Ser)
c.878T>G (p.Ile293Ser)
n.864T>G
c.2477T>G (p.Ile826Ser)
c.*1477T>G (n.*1477T>G)
c.1954T>G
c.2402T>G (p.Ile801Ser)
c.*1435T>G (n.*1435T>G)
c.1034T>G (p.Ile345Ser)
c.2558T>G (p.Ile853Ser)
c.1322T>G (p.Ile441Ser)
c.2360T>G (p.Ile787Ser)
c.1514T>G (p.Ile505Ser)
c.1469T>G (p.Ile490Ser)
c.1301T>G (p.Ile434Ser)
c.1175T>G (p.Ile392Ser)
 ClinVar
12g.32640299T>ACA479386482FGD4c.2067T>A (p.Ile689=)
c.2322T>A (p.Ile774=)
c.1788T>A (p.Ile596=)
c.879T>A (p.Ile293=)
n.865T>A
c.2478T>A (p.Ile826=)
c.*1478T>A (n.*1478T>A)
c.1955T>A
c.2403T>A (p.Ile801=)
c.*1436T>A (n.*1436T>A)
c.1035T>A (p.Ile345=)
c.2559T>A (p.Ile853=)
c.1323T>A (p.Ile441=)
c.2361T>A (p.Ile787=)
c.1515T>A (p.Ile505=)
c.1470T>A (p.Ile490=)
c.1302T>A (p.Ile434=)
c.1176T>A (p.Ile392=)
12g.32640299T>CCA479386483FGD4c.2067T>C (p.Ile689=)
c.2322T>C (p.Ile774=)
c.1788T>C (p.Ile596=)
c.879T>C (p.Ile293=)
n.865T>C
c.2478T>C (p.Ile826=)
c.*1478T>C (n.*1478T>C)
c.1955T>C
c.2403T>C (p.Ile801=)
c.*1436T>C (n.*1436T>C)
c.1035T>C (p.Ile345=)
c.2559T>C (p.Ile853=)
c.1323T>C (p.Ile441=)
c.2361T>C (p.Ile787=)
c.1515T>C (p.Ile505=)
c.1470T>C (p.Ile490=)
c.1302T>C (p.Ile434=)
c.1176T>C (p.Ile392=)
12g.32640299T>GCA384372270FGD4c.2067T>G (p.Ile689Met)
c.2322T>G (p.Ile774Met)
c.1788T>G (p.Ile596Met)
c.879T>G (p.Ile293Met)
n.865T>G
c.2478T>G (p.Ile826Met)
c.*1478T>G (n.*1478T>G)
c.1955T>G
c.2403T>G (p.Ile801Met)
c.*1436T>G (n.*1436T>G)
c.1035T>G (p.Ile345Met)
c.2559T>G (p.Ile853Met)
c.1323T>G (p.Ile441Met)
c.2361T>G (p.Ile787Met)
c.1515T>G (p.Ile505Met)
c.1470T>G (p.Ile490Met)
c.1302T>G (p.Ile434Met)
c.1176T>G (p.Ile392Met)
12g.32640300C>ACA6507110FGD4c.2068C>A (p.Pro690Thr)
c.2323C>A (p.Pro775Thr)
c.1789C>A (p.Pro597Thr)
c.880C>A (p.Pro294Thr)
n.866C>A
c.2479C>A (p.Pro827Thr)
c.*1479C>A (n.*1479C>A)
c.1956C>A
c.2404C>A (p.Pro802Thr)
c.*1437C>A (n.*1437C>A)
c.1036C>A (p.Pro346Thr)
c.2560C>A (p.Pro854Thr)
c.1324C>A (p.Pro442Thr)
c.2362C>A (p.Pro788Thr)
c.1516C>A (p.Pro506Thr)
c.1471C>A (p.Pro491Thr)
c.1303C>A (p.Pro435Thr)
c.1177C>A (p.Pro393Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32640300C=CA2026264593FGD4c.2068C= (p.Pro690=)
c.2323C= (p.Pro775=)
c.1789C= (p.Pro597=)
c.880C= (p.Pro294=)
n.866C=
c.2479C= (p.Pro827=)
c.*1479C= (n.*1479C=)
c.1956C=
c.2404C= (p.Pro802=)
c.*1437C= (n.*1437C=)
c.1036C= (p.Pro346=)
c.2560C= (p.Pro854=)
c.1324C= (p.Pro442=)
c.2362C= (p.Pro788=)
c.1516C= (p.Pro506=)
c.1471C= (p.Pro491=)
c.1303C= (p.Pro435=)
c.1177C= (p.Pro393=)
12g.32640300C>GCA384372272FGD4c.2068C>G (p.Pro690Ala)
c.2323C>G (p.Pro775Ala)
c.1789C>G (p.Pro597Ala)
c.880C>G (p.Pro294Ala)
n.866C>G
c.2479C>G (p.Pro827Ala)
c.*1479C>G (n.*1479C>G)
c.1956C>G
c.2404C>G (p.Pro802Ala)
c.*1437C>G (n.*1437C>G)
c.1036C>G (p.Pro346Ala)
c.2560C>G (p.Pro854Ala)
c.1324C>G (p.Pro442Ala)
c.2362C>G (p.Pro788Ala)
c.1516C>G (p.Pro506Ala)
c.1471C>G (p.Pro491Ala)
c.1303C>G (p.Pro435Ala)
c.1177C>G (p.Pro393Ala)
12g.32640300C>TCA384372271FGD4c.2068C>T (p.Pro690Ser)
c.2323C>T (p.Pro775Ser)
c.1789C>T (p.Pro597Ser)
c.880C>T (p.Pro294Ser)
n.866C>T
c.2479C>T (p.Pro827Ser)
c.*1479C>T (n.*1479C>T)
c.1956C>T
c.2404C>T (p.Pro802Ser)
c.*1437C>T (n.*1437C>T)
c.1036C>T (p.Pro346Ser)
c.2560C>T (p.Pro854Ser)
c.1324C>T (p.Pro442Ser)
c.2362C>T (p.Pro788Ser)
c.1516C>T (p.Pro506Ser)
c.1471C>T (p.Pro491Ser)
c.1303C>T (p.Pro435Ser)
c.1177C>T (p.Pro393Ser)
12g.32640301C>ACA384372273FGD4c.2069C>A (p.Pro690Gln)
c.2324C>A (p.Pro775Gln)
c.1790C>A (p.Pro597Gln)
c.881C>A (p.Pro294Gln)
n.867C>A
c.2480C>A (p.Pro827Gln)
c.*1480C>A (n.*1480C>A)
c.1957C>A
c.2405C>A (p.Pro802Gln)
c.*1438C>A (n.*1438C>A)
c.1037C>A (p.Pro346Gln)
c.2561C>A (p.Pro854Gln)
c.1325C>A (p.Pro442Gln)
c.2363C>A (p.Pro788Gln)
c.1517C>A (p.Pro506Gln)
c.1472C>A (p.Pro491Gln)
c.1304C>A (p.Pro435Gln)
c.1178C>A (p.Pro393Gln)
12g.32640301C>GCA384372274FGD4c.2069C>G (p.Pro690Arg)
c.2324C>G (p.Pro775Arg)
c.1790C>G (p.Pro597Arg)
c.881C>G (p.Pro294Arg)
n.867C>G
c.2480C>G (p.Pro827Arg)
c.*1480C>G (n.*1480C>G)
c.1957C>G
c.2405C>G (p.Pro802Arg)
c.*1438C>G (n.*1438C>G)
c.1037C>G (p.Pro346Arg)
c.2561C>G (p.Pro854Arg)
c.1325C>G (p.Pro442Arg)
c.2363C>G (p.Pro788Arg)
c.1517C>G (p.Pro506Arg)
c.1472C>G (p.Pro491Arg)
c.1304C>G (p.Pro435Arg)
c.1178C>G (p.Pro393Arg)
12g.32640301C>TCA384372275FGD4c.2069C>T (p.Pro690Leu)
c.2324C>T (p.Pro775Leu)
c.1790C>T (p.Pro597Leu)
c.881C>T (p.Pro294Leu)
n.867C>T
c.2480C>T (p.Pro827Leu)
c.*1480C>T (n.*1480C>T)
c.1957C>T
c.2405C>T (p.Pro802Leu)
c.*1438C>T (n.*1438C>T)
c.1037C>T (p.Pro346Leu)
c.2561C>T (p.Pro854Leu)
c.1325C>T (p.Pro442Leu)
c.2363C>T (p.Pro788Leu)
c.1517C>T (p.Pro506Leu)
c.1472C>T (p.Pro491Leu)
c.1304C>T (p.Pro435Leu)
c.1178C>T (p.Pro393Leu)
12g.32640302A=CA2026264602FGD4c.2070A= (p.Pro690=)
c.2325A= (p.Pro775=)
c.1791A= (p.Pro597=)
c.882A= (p.Pro294=)
n.868A=
c.2481A= (p.Pro827=)
c.*1481A= (n.*1481A=)
c.1958A=
c.2406A= (p.Pro802=)
c.*1439A= (n.*1439A=)
c.1038A= (p.Pro346=)
c.2562A= (p.Pro854=)
c.1326A= (p.Pro442=)
c.2364A= (p.Pro788=)
c.1518A= (p.Pro506=)
c.1473A= (p.Pro491=)
c.1305A= (p.Pro435=)
c.1179A= (p.Pro393=)
12g.32640302A>CCA479386485FGD4c.2070A>C (p.Pro690=)
c.2325A>C (p.Pro775=)
c.1791A>C (p.Pro597=)
c.882A>C (p.Pro294=)
n.868A>C
c.2481A>C (p.Pro827=)
c.*1481A>C (n.*1481A>C)
c.1958A>C
c.2406A>C (p.Pro802=)
c.*1439A>C (n.*1439A>C)
c.1038A>C (p.Pro346=)
c.2562A>C (p.Pro854=)
c.1326A>C (p.Pro442=)
c.2364A>C (p.Pro788=)
c.1518A>C (p.Pro506=)
c.1473A>C (p.Pro491=)
c.1305A>C (p.Pro435=)
c.1179A>C (p.Pro393=)
12g.32640302A>GCA479386487FGD4c.2070A>G (p.Pro690=)
c.2325A>G (p.Pro775=)
c.1791A>G (p.Pro597=)
c.882A>G (p.Pro294=)
n.868A>G
c.2481A>G (p.Pro827=)
c.*1481A>G (n.*1481A>G)
c.1958A>G
c.2406A>G (p.Pro802=)
c.*1439A>G (n.*1439A>G)
c.1038A>G (p.Pro346=)
c.2562A>G (p.Pro854=)
c.1326A>G (p.Pro442=)
c.2364A>G (p.Pro788=)
c.1518A>G (p.Pro506=)
c.1473A>G (p.Pro491=)
c.1305A>G (p.Pro435=)
c.1179A>G (p.Pro393=)
12g.32640302A>TCA6507111FGD4c.2070A>T (p.Pro690=)
c.2325A>T (p.Pro775=)
c.1791A>T (p.Pro597=)
c.882A>T (p.Pro294=)
n.868A>T
c.2481A>T (p.Pro827=)
c.*1481A>T (n.*1481A>T)
c.1958A>T
c.2406A>T (p.Pro802=)
c.*1439A>T (n.*1439A>T)
c.1038A>T (p.Pro346=)
c.2562A>T (p.Pro854=)
c.1326A>T (p.Pro442=)
c.2364A>T (p.Pro788=)
c.1518A>T (p.Pro506=)
c.1473A>T (p.Pro491=)
c.1305A>T (p.Pro435=)
c.1179A>T (p.Pro393=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.32640303C>ACA384372276FGD4c.2071C>A (p.Leu691Ile)
c.2326C>A (p.Leu776Ile)
c.1792C>A (p.Leu598Ile)
c.883C>A (p.Leu295Ile)
n.869C>A
c.2482C>A (p.Leu828Ile)
c.*1482C>A (n.*1482C>A)
c.1959C>A
c.2407C>A (p.Leu803Ile)
c.*1440C>A (n.*1440C>A)
c.1039C>A (p.Leu347Ile)
c.2563C>A (p.Leu855Ile)
c.1327C>A (p.Leu443Ile)
c.2365C>A (p.Leu789Ile)
c.1519C>A (p.Leu507Ile)
c.1474C>A (p.Leu492Ile)
c.1306C>A (p.Leu436Ile)
c.1180C>A (p.Leu394Ile)
12g.32640303C=CA2026264610FGD4c.2071C= (p.Leu691=)
c.2326C= (p.Leu776=)
c.1792C= (p.Leu598=)
c.883C= (p.Leu295=)
n.869C=
c.2482C= (p.Leu828=)
c.*1482C= (n.*1482C=)
c.1959C=
c.2407C= (p.Leu803=)
c.*1440C= (n.*1440C=)
c.1039C= (p.Leu347=)
c.2563C= (p.Leu855=)
c.1327C= (p.Leu443=)
c.2365C= (p.Leu789=)
c.1519C= (p.Leu507=)
c.1474C= (p.Leu492=)
c.1306C= (p.Leu436=)
c.1180C= (p.Leu394=)
12g.32640303C>GCA384372277FGD4c.2071C>G (p.Leu691Val)
c.2326C>G (p.Leu776Val)
c.1792C>G (p.Leu598Val)
c.883C>G (p.Leu295Val)
n.869C>G
c.2482C>G (p.Leu828Val)
c.*1482C>G (n.*1482C>G)
c.1959C>G
c.2407C>G (p.Leu803Val)
c.*1440C>G (n.*1440C>G)
c.1039C>G (p.Leu347Val)
c.2563C>G (p.Leu855Val)
c.1327C>G (p.Leu443Val)
c.2365C>G (p.Leu789Val)
c.1519C>G (p.Leu507Val)
c.1474C>G (p.Leu492Val)
c.1306C>G (p.Leu436Val)
c.1180C>G (p.Leu394Val)
12g.32640303C>TCA384372278FGD4c.2071C>T (p.Leu691Phe)
c.2326C>T (p.Leu776Phe)
c.1792C>T (p.Leu598Phe)
c.883C>T (p.Leu295Phe)
n.869C>T
c.2482C>T (p.Leu828Phe)
c.*1482C>T (n.*1482C>T)
c.1959C>T
c.2407C>T (p.Leu803Phe)
c.*1440C>T (n.*1440C>T)
c.1039C>T (p.Leu347Phe)
c.2563C>T (p.Leu855Phe)
c.1327C>T (p.Leu443Phe)
c.2365C>T (p.Leu789Phe)
c.1519C>T (p.Leu507Phe)
c.1474C>T (p.Leu492Phe)
c.1306C>T (p.Leu436Phe)
c.1180C>T (p.Leu394Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.32640304T>ACA384372279FGD4c.2072T>A (p.Leu691His)
c.2327T>A (p.Leu776His)
c.1793T>A (p.Leu598His)
c.884T>A (p.Leu295His)
n.870T>A
c.2483T>A (p.Leu828His)
c.*1483T>A (n.*1483T>A)
c.1960T>A
c.2408T>A (p.Leu803His)
c.*1441T>A (n.*1441T>A)
c.1040T>A (p.Leu347His)
c.2564T>A (p.Leu855His)
c.1328T>A (p.Leu443His)
c.2366T>A (p.Leu789His)
c.1520T>A (p.Leu507His)
c.1475T>A (p.Leu492His)
c.1307T>A (p.Leu436His)
c.1181T>A (p.Leu394His)
12g.32640304T>CCA384372280FGD4c.2072T>C (p.Leu691Pro)
c.2327T>C (p.Leu776Pro)
c.1793T>C (p.Leu598Pro)
c.884T>C (p.Leu295Pro)
n.870T>C
c.2483T>C (p.Leu828Pro)
c.*1483T>C (n.*1483T>C)
c.1960T>C
c.2408T>C (p.Leu803Pro)
c.*1441T>C (n.*1441T>C)
c.1040T>C (p.Leu347Pro)
c.2564T>C (p.Leu855Pro)
c.1328T>C (p.Leu443Pro)
c.2366T>C (p.Leu789Pro)
c.1520T>C (p.Leu507Pro)
c.1475T>C (p.Leu492Pro)
c.1307T>C (p.Leu436Pro)
c.1181T>C (p.Leu394Pro)
12g.32640304T>GCA384372281FGD4c.2072T>G (p.Leu691Arg)
c.2327T>G (p.Leu776Arg)
c.1793T>G (p.Leu598Arg)
c.884T>G (p.Leu295Arg)
n.870T>G
c.2483T>G (p.Leu828Arg)
c.*1483T>G (n.*1483T>G)
c.1960T>G
c.2408T>G (p.Leu803Arg)
c.*1441T>G (n.*1441T>G)
c.1040T>G (p.Leu347Arg)
c.2564T>G (p.Leu855Arg)
c.1328T>G (p.Leu443Arg)
c.2366T>G (p.Leu789Arg)
c.1520T>G (p.Leu507Arg)
c.1475T>G (p.Leu492Arg)
c.1307T>G (p.Leu436Arg)
c.1181T>G (p.Leu394Arg)
12g.32640305T>ACA479386489FGD4c.2073T>A (p.Leu691=)
c.2328T>A (p.Leu776=)
c.1794T>A (p.Leu598=)
c.885T>A (p.Leu295=)
n.871T>A
c.2484T>A (p.Leu828=)
c.*1484T>A (n.*1484T>A)
c.1961T>A
c.2409T>A (p.Leu803=)
c.*1442T>A (n.*1442T>A)
c.1041T>A (p.Leu347=)
c.2565T>A (p.Leu855=)
c.1329T>A (p.Leu443=)
c.2367T>A (p.Leu789=)
c.1521T>A (p.Leu507=)
c.1476T>A (p.Leu492=)
c.1308T>A (p.Leu436=)
c.1182T>A (p.Leu394=)
12g.32640305T>CCA479386490FGD4c.2073T>C (p.Leu691=)
c.2328T>C (p.Leu776=)
c.1794T>C (p.Leu598=)
c.885T>C (p.Leu295=)
n.871T>C
c.2484T>C (p.Leu828=)
c.*1484T>C (n.*1484T>C)
c.1961T>C
c.2409T>C (p.Leu803=)
c.*1442T>C (n.*1442T>C)
c.1041T>C (p.Leu347=)
c.2565T>C (p.Leu855=)
c.1329T>C (p.Leu443=)
c.2367T>C (p.Leu789=)
c.1521T>C (p.Leu507=)
c.1476T>C (p.Leu492=)
c.1308T>C (p.Leu436=)
c.1182T>C (p.Leu394=)
12g.32640305T>GCA479386491FGD4c.2073T>G (p.Leu691=)
c.2328T>G (p.Leu776=)
c.1794T>G (p.Leu598=)
c.885T>G (p.Leu295=)
n.871T>G
c.2484T>G (p.Leu828=)
c.*1484T>G (n.*1484T>G)
c.1961T>G
c.2409T>G (p.Leu803=)
c.*1442T>G (n.*1442T>G)
c.1041T>G (p.Leu347=)
c.2565T>G (p.Leu855=)
c.1329T>G (p.Leu443=)
c.2367T>G (p.Leu789=)
c.1521T>G (p.Leu507=)
c.1476T>G (p.Leu492=)
c.1308T>G (p.Leu436=)
c.1182T>G (p.Leu394=)
 dbSNP
12g.32640305T=CA2026264614FGD4c.2073T= (p.Leu691=)
c.2328T= (p.Leu776=)
c.1794T= (p.Leu598=)
c.885T= (p.Leu295=)
n.871T=
c.2484T= (p.Leu828=)
c.*1484T= (n.*1484T=)
c.1961T=
c.2409T= (p.Leu803=)
c.*1442T= (n.*1442T=)
c.1041T= (p.Leu347=)
c.2565T= (p.Leu855=)
c.1329T= (p.Leu443=)
c.2367T= (p.Leu789=)
c.1521T= (p.Leu507=)
c.1476T= (p.Leu492=)
c.1308T= (p.Leu436=)
c.1182T= (p.Leu394=)
12g.32640306C>ACA384372282FGD4c.2074C>A (p.Leu692Met)
c.2329C>A (p.Leu777Met)
c.1795C>A (p.Leu599Met)
c.886C>A (p.Leu296Met)
n.872C>A
c.2485C>A (p.Leu829Met)
c.*1485C>A (n.*1485C>A)
c.1962C>A
c.2410C>A (p.Leu804Met)
c.*1443C>A (n.*1443C>A)
c.1042C>A (p.Leu348Met)
c.2566C>A (p.Leu856Met)
c.1330C>A (p.Leu444Met)
c.2368C>A (p.Leu790Met)
c.1522C>A (p.Leu508Met)
c.1477C>A (p.Leu493Met)
c.1309C>A (p.Leu437Met)
c.1183C>A (p.Leu395Met)
12g.32640306C>GCA384372283FGD4c.2074C>G (p.Leu692Val)
c.2329C>G (p.Leu777Val)
c.1795C>G (p.Leu599Val)
c.886C>G (p.Leu296Val)
n.872C>G
c.2485C>G (p.Leu829Val)
c.*1485C>G (n.*1485C>G)
c.1962C>G
c.2410C>G (p.Leu804Val)
c.*1443C>G (n.*1443C>G)
c.1042C>G (p.Leu348Val)
c.2566C>G (p.Leu856Val)
c.1330C>G (p.Leu444Val)
c.2368C>G (p.Leu790Val)
c.1522C>G (p.Leu508Val)
c.1477C>G (p.Leu493Val)
c.1309C>G (p.Leu437Val)
c.1183C>G (p.Leu395Val)
12g.32640306C>TCA479386492FGD4c.2074C>T (p.Leu692=)
c.2329C>T (p.Leu777=)
c.1795C>T (p.Leu599=)
c.886C>T (p.Leu296=)
n.872C>T
c.2485C>T (p.Leu829=)
c.*1485C>T (n.*1485C>T)
c.1962C>T
c.2410C>T (p.Leu804=)
c.*1443C>T (n.*1443C>T)
c.1042C>T (p.Leu348=)
c.2566C>T (p.Leu856=)
c.1330C>T (p.Leu444=)
c.2368C>T (p.Leu790=)
c.1522C>T (p.Leu508=)
c.1477C>T (p.Leu493=)
c.1309C>T (p.Leu437=)
c.1183C>T (p.Leu395=)
12g.32640307T>ACA384372286FGD4c.2075T>A (p.Leu692Gln)
c.2330T>A (p.Leu777Gln)
c.1796T>A (p.Leu599Gln)
c.887T>A (p.Leu296Gln)
n.873T>A
c.2486T>A (p.Leu829Gln)
c.*1486T>A (n.*1486T>A)
c.1963T>A
c.2411T>A (p.Leu804Gln)
c.*1444T>A (n.*1444T>A)
c.1043T>A (p.Leu348Gln)
c.2567T>A (p.Leu856Gln)
c.1331T>A (p.Leu444Gln)
c.2369T>A (p.Leu790Gln)
c.1523T>A (p.Leu508Gln)
c.1478T>A (p.Leu493Gln)
c.1310T>A (p.Leu437Gln)
c.1184T>A (p.Leu395Gln)
12g.32640307T>CCA384372285FGD4c.2075T>C (p.Leu692Pro)
c.2330T>C (p.Leu777Pro)
c.1796T>C (p.Leu599Pro)
c.887T>C (p.Leu296Pro)
n.873T>C
c.2486T>C (p.Leu829Pro)
c.*1486T>C (n.*1486T>C)
c.1963T>C
c.2411T>C (p.Leu804Pro)
c.*1444T>C (n.*1444T>C)
c.1043T>C (p.Leu348Pro)
c.2567T>C (p.Leu856Pro)
c.1331T>C (p.Leu444Pro)
c.2369T>C (p.Leu790Pro)
c.1523T>C (p.Leu508Pro)
c.1478T>C (p.Leu493Pro)
c.1310T>C (p.Leu437Pro)
c.1184T>C (p.Leu395Pro)
12g.32640307T>GCA384372284FGD4c.2075T>G (p.Leu692Arg)
c.2330T>G (p.Leu777Arg)
c.1796T>G (p.Leu599Arg)
c.887T>G (p.Leu296Arg)
n.873T>G
c.2486T>G (p.Leu829Arg)
c.*1486T>G (n.*1486T>G)
c.1963T>G
c.2411T>G (p.Leu804Arg)
c.*1444T>G (n.*1444T>G)
c.1043T>G (p.Leu348Arg)
c.2567T>G (p.Leu856Arg)
c.1331T>G (p.Leu444Arg)
c.2369T>G (p.Leu790Arg)
c.1523T>G (p.Leu508Arg)
c.1478T>G (p.Leu493Arg)
c.1310T>G (p.Leu437Arg)
c.1184T>G (p.Leu395Arg)
12g.32640308G>ACA479386493FGD4c.2076G>A (p.Leu692=)
c.2331G>A (p.Leu777=)
c.1797G>A (p.Leu599=)
c.888G>A (p.Leu296=)
n.874G>A
c.2487G>A (p.Leu829=)
c.*1487G>A (n.*1487G>A)
c.1964G>A
c.2412G>A (p.Leu804=)
c.*1445G>A (n.*1445G>A)
c.1044G>A (p.Leu348=)
c.2568G>A (p.Leu856=)
c.1332G>A (p.Leu444=)
c.2370G>A (p.Leu790=)
c.1524G>A (p.Leu508=)
c.1479G>A (p.Leu493=)
c.1311G>A (p.Leu437=)
c.1185G>A (p.Leu395=)
12g.32640308G>CCA479386494FGD4c.2076G>C (p.Leu692=)
c.2331G>C (p.Leu777=)
c.1797G>C (p.Leu599=)
c.888G>C (p.Leu296=)
n.874G>C
c.2487G>C (p.Leu829=)
c.*1487G>C (n.*1487G>C)
c.1964G>C
c.2412G>C (p.Leu804=)
c.*1445G>C (n.*1445G>C)
c.1044G>C (p.Leu348=)
c.2568G>C (p.Leu856=)
c.1332G>C (p.Leu444=)
c.2370G>C (p.Leu790=)
c.1524G>C (p.Leu508=)
c.1479G>C (p.Leu493=)
c.1311G>C (p.Leu437=)
c.1185G>C (p.Leu395=)
12g.32640308G>TCA479386495FGD4c.2076G>T (p.Leu692=)
c.2331G>T (p.Leu777=)
c.1797G>T (p.Leu599=)
c.888G>T (p.Leu296=)
n.874G>T
c.2487G>T (p.Leu829=)
c.*1487G>T (n.*1487G>T)
c.1964G>T
c.2412G>T (p.Leu804=)
c.*1445G>T (n.*1445G>T)
c.1044G>T (p.Leu348=)
c.2568G>T (p.Leu856=)
c.1332G>T (p.Leu444=)
c.2370G>T (p.Leu790=)
c.1524G>T (p.Leu508=)
c.1479G>T (p.Leu493=)
c.1311G>T (p.Leu437=)
c.1185G>T (p.Leu395=)
12g.32640309G>ACA384372287FGD4c.2077G>A (p.Gly693Ser)
c.2332G>A (p.Gly778Ser)
c.1798G>A (p.Gly600Ser)
c.889G>A (p.Gly297Ser)
n.875G>A
c.2488G>A (p.Gly830Ser)
c.*1488G>A (n.*1488G>A)
c.1965G>A
c.2413G>A (p.Gly805Ser)
c.*1446G>A (n.*1446G>A)
c.1045G>A (p.Gly349Ser)
c.2569G>A (p.Gly857Ser)
c.1333G>A (p.Gly445Ser)
c.2371G>A (p.Gly791Ser)
c.1525G>A (p.Gly509Ser)
c.1480G>A (p.Gly494Ser)
c.1312G>A (p.Gly438Ser)
c.1186G>A (p.Gly396Ser)
12g.32640309G>CCA384372289FGD4c.2077G>C (p.Gly693Arg)
c.2332G>C (p.Gly778Arg)
c.1798G>C (p.Gly600Arg)
c.889G>C (p.Gly297Arg)
n.875G>C
c.2488G>C (p.Gly830Arg)
c.*1488G>C (n.*1488G>C)
c.1965G>C
c.2413G>C (p.Gly805Arg)
c.*1446G>C (n.*1446G>C)
c.1045G>C (p.Gly349Arg)
c.2569G>C (p.Gly857Arg)
c.1333G>C (p.Gly445Arg)
c.2371G>C (p.Gly791Arg)
c.1525G>C (p.Gly509Arg)
c.1480G>C (p.Gly494Arg)
c.1312G>C (p.Gly438Arg)
c.1186G>C (p.Gly396Arg)
12g.32640309G>TCA384372288FGD4c.2077G>T (p.Gly693Cys)
c.2332G>T (p.Gly778Cys)
c.1798G>T (p.Gly600Cys)
c.889G>T (p.Gly297Cys)
n.875G>T
c.2488G>T (p.Gly830Cys)
c.*1488G>T (n.*1488G>T)
c.1965G>T
c.2413G>T (p.Gly805Cys)
c.*1446G>T (n.*1446G>T)
c.1045G>T (p.Gly349Cys)
c.2569G>T (p.Gly857Cys)
c.1333G>T (p.Gly445Cys)
c.2371G>T (p.Gly791Cys)
c.1525G>T (p.Gly509Cys)
c.1480G>T (p.Gly494Cys)
c.1312G>T (p.Gly438Cys)
c.1186G>T (p.Gly396Cys)
 dbSNP
12g.32640310G>ACA384372290FGD4c.2078G>A (p.Gly693Asp)
c.2333G>A (p.Gly778Asp)
c.1799G>A (p.Gly600Asp)
c.890G>A (p.Gly297Asp)
n.876G>A
c.2489G>A (p.Gly830Asp)
c.*1489G>A (n.*1489G>A)
c.1966G>A
c.2414G>A (p.Gly805Asp)
c.*1447G>A (n.*1447G>A)
c.1046G>A (p.Gly349Asp)
c.2570G>A (p.Gly857Asp)
c.1334G>A (p.Gly445Asp)
c.2372G>A (p.Gly791Asp)
c.1526G>A (p.Gly509Asp)
c.1481G>A (p.Gly494Asp)
c.1313G>A (p.Gly438Asp)
c.1187G>A (p.Gly396Asp)
12g.32640310G>CCA384372292FGD4c.2078G>C (p.Gly693Ala)
c.2333G>C (p.Gly778Ala)
c.1799G>C (p.Gly600Ala)
c.890G>C (p.Gly297Ala)
n.876G>C
c.2489G>C (p.Gly830Ala)
c.*1489G>C (n.*1489G>C)
c.1966G>C
c.2414G>C (p.Gly805Ala)
c.*1447G>C (n.*1447G>C)
c.1046G>C (p.Gly349Ala)
c.2570G>C (p.Gly857Ala)
c.1334G>C (p.Gly445Ala)
c.2372G>C (p.Gly791Ala)
c.1526G>C (p.Gly509Ala)
c.1481G>C (p.Gly494Ala)
c.1313G>C (p.Gly438Ala)
c.1187G>C (p.Gly396Ala)
 gnomAD v4
12g.32640310G>TCA384372291FGD4c.2078G>T (p.Gly693Val)
c.2333G>T (p.Gly778Val)
c.1799G>T (p.Gly600Val)
c.890G>T (p.Gly297Val)
n.876G>T
c.2489G>T (p.Gly830Val)
c.*1489G>T (n.*1489G>T)
c.1966G>T
c.2414G>T (p.Gly805Val)
c.*1447G>T (n.*1447G>T)
c.1046G>T (p.Gly349Val)
c.2570G>T (p.Gly857Val)
c.1334G>T (p.Gly445Val)
c.2372G>T (p.Gly791Val)
c.1526G>T (p.Gly509Val)
c.1481G>T (p.Gly494Val)
c.1313G>T (p.Gly438Val)
c.1187G>T (p.Gly396Val)
12g.32640311C>ACA479386498FGD4c.2079C>A (p.Gly693=)
c.2334C>A (p.Gly778=)
c.1800C>A (p.Gly600=)
c.891C>A (p.Gly297=)
n.877C>A
c.2490C>A (p.Gly830=)
c.*1490C>A (n.*1490C>A)
c.1967C>A
c.2415C>A (p.Gly805=)
c.*1448C>A (n.*1448C>A)
c.1047C>A (p.Gly349=)
c.2571C>A (p.Gly857=)
c.1335C>A (p.Gly445=)
c.2373C>A (p.Gly791=)
c.1527C>A (p.Gly509=)
c.1482C>A (p.Gly494=)
c.1314C>A (p.Gly438=)
c.1188C>A (p.Gly396=)
12g.32640311C=CA2026264619FGD4c.2079C= (p.Gly693=)
c.2334C= (p.Gly778=)
c.1800C= (p.Gly600=)
c.891C= (p.Gly297=)
n.877C=
c.2490C= (p.Gly830=)
c.*1490C= (n.*1490C=)
c.1967C=
c.2415C= (p.Gly805=)
c.*1448C= (n.*1448C=)
c.1047C= (p.Gly349=)
c.2571C= (p.Gly857=)
c.1335C= (p.Gly445=)
c.2373C= (p.Gly791=)
c.1527C= (p.Gly509=)
c.1482C= (p.Gly494=)
c.1314C= (p.Gly438=)
c.1188C= (p.Gly396=)
12g.32640311C>GCA479386496FGD4c.2079C>G (p.Gly693=)
c.2334C>G (p.Gly778=)
c.1800C>G (p.Gly600=)
c.891C>G (p.Gly297=)
n.877C>G
c.2490C>G (p.Gly830=)
c.*1490C>G (n.*1490C>G)
c.1967C>G
c.2415C>G (p.Gly805=)
c.*1448C>G (n.*1448C>G)
c.1047C>G (p.Gly349=)
c.2571C>G (p.Gly857=)
c.1335C>G (p.Gly445=)
c.2373C>G (p.Gly791=)
c.1527C>G (p.Gly509=)
c.1482C>G (p.Gly494=)
c.1314C>G (p.Gly438=)
c.1188C>G (p.Gly396=)
12g.32640311C>TCA479386497FGD4c.2079C>T (p.Gly693=)
c.2334C>T (p.Gly778=)
c.1800C>T (p.Gly600=)
c.891C>T (p.Gly297=)
n.877C>T
c.2490C>T (p.Gly830=)
c.*1490C>T (n.*1490C>T)
c.1967C>T
c.2415C>T (p.Gly805=)
c.*1448C>T (n.*1448C>T)
c.1047C>T (p.Gly349=)
c.2571C>T (p.Gly857=)
c.1335C>T (p.Gly445=)
c.2373C>T (p.Gly791=)
c.1527C>T (p.Gly509=)
c.1482C>T (p.Gly494=)
c.1314C>T (p.Gly438=)
c.1188C>T (p.Gly396=)
 ClinVar dbSNP
12g.32640312T>ACA384372293FGD4c.2080T>A (p.Tyr694Asn)
c.2335T>A (p.Tyr779Asn)
c.1801T>A (p.Tyr601Asn)
c.892T>A (p.Tyr298Asn)
n.878T>A
c.2491T>A (p.Tyr831Asn)
c.*1491T>A (n.*1491T>A)
c.1968T>A
c.2416T>A (p.Tyr806Asn)
c.*1449T>A (n.*1449T>A)
c.1048T>A (p.Tyr350Asn)
c.2572T>A (p.Tyr858Asn)
c.1336T>A (p.Tyr446Asn)
c.2374T>A (p.Tyr792Asn)
c.1528T>A (p.Tyr510Asn)
c.1483T>A (p.Tyr495Asn)
c.1315T>A (p.Tyr439Asn)
c.1189T>A (p.Tyr397Asn)
12g.32640312T>CCA384372294FGD4c.2080T>C (p.Tyr694His)
c.2335T>C (p.Tyr779His)
c.1801T>C (p.Tyr601His)
c.892T>C (p.Tyr298His)
n.878T>C
c.2491T>C (p.Tyr831His)
c.*1491T>C (n.*1491T>C)
c.1968T>C
c.2416T>C (p.Tyr806His)
c.*1449T>C (n.*1449T>C)
c.1048T>C (p.Tyr350His)
c.2572T>C (p.Tyr858His)
c.1336T>C (p.Tyr446His)
c.2374T>C (p.Tyr792His)
c.1528T>C (p.Tyr510His)
c.1483T>C (p.Tyr495His)
c.1315T>C (p.Tyr439His)
c.1189T>C (p.Tyr397His)
12g.32640312T>GCA384372295FGD4c.2080T>G (p.Tyr694Asp)
c.2335T>G (p.Tyr779Asp)
c.1801T>G (p.Tyr601Asp)
c.892T>G (p.Tyr298Asp)
n.878T>G
c.2491T>G (p.Tyr831Asp)
c.*1491T>G (n.*1491T>G)
c.1968T>G
c.2416T>G (p.Tyr806Asp)
c.*1449T>G (n.*1449T>G)
c.1048T>G (p.Tyr350Asp)
c.2572T>G (p.Tyr858Asp)
c.1336T>G (p.Tyr446Asp)
c.2374T>G (p.Tyr792Asp)
c.1528T>G (p.Tyr510Asp)
c.1483T>G (p.Tyr495Asp)
c.1315T>G (p.Tyr439Asp)
c.1189T>G (p.Tyr397Asp)
12g.32640313_32640314delCA2582342496FGD4c.2081_2082del (p.Tyr694CysfsTer4)
c.2336_2337del (p.Tyr779CysfsTer4)
c.1802_1803del (p.Tyr601CysfsTer4)
c.893_894del (p.Tyr298CysfsTer4)
n.879_880del
c.2492_2493del (p.Tyr831CysfsTer4)
c.*1492_*1493del (n.*1492_*1493del)
c.1969_1970del
c.2417_2418del (p.Tyr806CysfsTer4)
c.*1450_*1451del (n.*1450_*1451del)
c.1049_1050del (p.Tyr350CysfsTer4)
c.2573_2574del (p.Tyr858CysfsTer4)
c.1337_1338del (p.Tyr446CysfsTer4)
c.2375_2376del (p.Tyr792CysfsTer4)
c.1529_1530del (p.Tyr510CysfsTer4)
c.1484_1485del (p.Tyr495CysfsTer4)
c.1316_1317del (p.Tyr439CysfsTer4)
c.1190_1191del (p.Tyr397CysfsTer4)
 ClinVar gnomAD v4
12g.32640313A=CA2026264622FGD4c.2081A= (p.Tyr694=)
c.2336A= (p.Tyr779=)
c.1802A= (p.Tyr601=)
c.893A= (p.Tyr298=)
n.879A=
c.2492A= (p.Tyr831=)
c.*1492A= (n.*1492A=)
c.1969A=
c.2417A= (p.Tyr806=)
c.*1450A= (n.*1450A=)
c.1049A= (p.Tyr350=)
c.2573A= (p.Tyr858=)
c.1337A= (p.Tyr446=)
c.2375A= (p.Tyr792=)
c.1529A= (p.Tyr510=)
c.1484A= (p.Tyr495=)
c.1316A= (p.Tyr439=)
c.1190A= (p.Tyr397=)
12g.32640313A>CCA384372296FGD4c.2081A>C (p.Tyr694Ser)
c.2336A>C (p.Tyr779Ser)
c.1802A>C (p.Tyr601Ser)
c.893A>C (p.Tyr298Ser)
n.879A>C
c.2492A>C (p.Tyr831Ser)
c.*1492A>C (n.*1492A>C)
c.1969A>C
c.2417A>C (p.Tyr806Ser)
c.*1450A>C (n.*1450A>C)
c.1049A>C (p.Tyr350Ser)
c.2573A>C (p.Tyr858Ser)
c.1337A>C (p.Tyr446Ser)
c.2375A>C (p.Tyr792Ser)
c.1529A>C (p.Tyr510Ser)
c.1484A>C (p.Tyr495Ser)
c.1316A>C (p.Tyr439Ser)
c.1190A>C (p.Tyr397Ser)
 gnomAD v4
12g.32640313A>GCA6507112FGD4c.2081A>G (p.Tyr694Cys)
c.2336A>G (p.Tyr779Cys)
c.1802A>G (p.Tyr601Cys)
c.893A>G (p.Tyr298Cys)
n.879A>G
c.2492A>G (p.Tyr831Cys)
c.*1492A>G (n.*1492A>G)
c.1969A>G
c.2417A>G (p.Tyr806Cys)
c.*1450A>G (n.*1450A>G)
c.1049A>G (p.Tyr350Cys)
c.2573A>G (p.Tyr858Cys)
c.1337A>G (p.Tyr446Cys)
c.2375A>G (p.Tyr792Cys)
c.1529A>G (p.Tyr510Cys)
c.1484A>G (p.Tyr495Cys)
c.1316A>G (p.Tyr439Cys)
c.1190A>G (p.Tyr397Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.32640313A>TCA384372297FGD4c.2081A>T (p.Tyr694Phe)
c.2336A>T (p.Tyr779Phe)
c.1802A>T (p.Tyr601Phe)
c.893A>T (p.Tyr298Phe)
n.879A>T
c.2492A>T (p.Tyr831Phe)
c.*1492A>T (n.*1492A>T)
c.1969A>T
c.2417A>T (p.Tyr806Phe)
c.*1450A>T (n.*1450A>T)
c.1049A>T (p.Tyr350Phe)
c.2573A>T (p.Tyr858Phe)
c.1337A>T (p.Tyr446Phe)
c.2375A>T (p.Tyr792Phe)
c.1529A>T (p.Tyr510Phe)
c.1484A>T (p.Tyr495Phe)
c.1316A>T (p.Tyr439Phe)
c.1190A>T (p.Tyr397Phe)
 dbSNP gnomAD v2
12g.32640314T>ACA384372298FGD4c.2082T>A (p.Tyr694Ter)
c.2337T>A (p.Tyr779Ter)
c.1803T>A (p.Tyr601Ter)
c.894T>A (p.Tyr298Ter)
n.880T>A
c.2493T>A (p.Tyr831Ter)
c.*1493T>A (n.*1493T>A)
c.1970T>A
c.2418T>A (p.Tyr806Ter)
c.*1451T>A (n.*1451T>A)
c.1050T>A (p.Tyr350Ter)
c.2574T>A (p.Tyr858Ter)
c.1338T>A (p.Tyr446Ter)
c.2376T>A (p.Tyr792Ter)
c.1530T>A (p.Tyr510Ter)
c.1485T>A (p.Tyr495Ter)
c.1317T>A (p.Tyr439Ter)
c.1191T>A (p.Tyr397Ter)
12g.32640314T>CCA479386499FGD4c.2082T>C (p.Tyr694=)
c.2337T>C (p.Tyr779=)
c.1803T>C (p.Tyr601=)
c.894T>C (p.Tyr298=)
n.880T>C
c.2493T>C (p.Tyr831=)
c.*1493T>C (n.*1493T>C)
c.1970T>C
c.2418T>C (p.Tyr806=)
c.*1451T>C (n.*1451T>C)
c.1050T>C (p.Tyr350=)
c.2574T>C (p.Tyr858=)
c.1338T>C (p.Tyr446=)
c.2376T>C (p.Tyr792=)
c.1530T>C (p.Tyr510=)
c.1485T>C (p.Tyr495=)
c.1317T>C (p.Tyr439=)
c.1191T>C (p.Tyr397=)
12g.32640314T>GCA384372299FGD4c.2082T>G (p.Tyr694Ter)
c.2337T>G (p.Tyr779Ter)
c.1803T>G (p.Tyr601Ter)
c.894T>G (p.Tyr298Ter)
n.880T>G
c.2493T>G (p.Tyr831Ter)
c.*1493T>G (n.*1493T>G)
c.1970T>G
c.2418T>G (p.Tyr806Ter)
c.*1451T>G (n.*1451T>G)
c.1050T>G (p.Tyr350Ter)
c.2574T>G (p.Tyr858Ter)
c.1338T>G (p.Tyr446Ter)
c.2376T>G (p.Tyr792Ter)
c.1530T>G (p.Tyr510Ter)
c.1485T>G (p.Tyr495Ter)
c.1317T>G (p.Tyr439Ter)
c.1191T>G (p.Tyr397Ter)
12g.32640315G>ACA235247846FGD4c.2083G>A (p.Val695Met)
c.2338G>A (p.Val780Met)
c.1804G>A (p.Val602Met)
c.895G>A (p.Val299Met)
n.881G>A
c.2494G>A (p.Val832Met)
c.*1494G>A (n.*1494G>A)
c.1971G>A
c.2419G>A (p.Val807Met)
c.*1452G>A (n.*1452G>A)
c.1051G>A (p.Val351Met)
c.2575G>A (p.Val859Met)
c.1339G>A (p.Val447Met)
c.2377G>A (p.Val793Met)
c.1531G>A (p.Val511Met)
c.1486G>A (p.Val496Met)
c.1318G>A (p.Val440Met)
c.1192G>A (p.Val398Met)
 dbSNP gnomAD v4
12g.32640315G>CCA384372300FGD4c.2083G>C (p.Val695Leu)
c.2338G>C (p.Val780Leu)
c.1804G>C (p.Val602Leu)
c.895G>C (p.Val299Leu)
n.881G>C
c.2494G>C (p.Val832Leu)
c.*1494G>C (n.*1494G>C)
c.1971G>C
c.2419G>C (p.Val807Leu)
c.*1452G>C (n.*1452G>C)
c.1051G>C (p.Val351Leu)
c.2575G>C (p.Val859Leu)
c.1339G>C (p.Val447Leu)
c.2377G>C (p.Val793Leu)
c.1531G>C (p.Val511Leu)
c.1486G>C (p.Val496Leu)
c.1318G>C (p.Val440Leu)
c.1192G>C (p.Val398Leu)
12g.32640315G=CA2026264625FGD4c.2083G= (p.Val695=)
c.2338G= (p.Val780=)
c.1804G= (p.Val602=)
c.895G= (p.Val299=)
n.881G=
c.2494G= (p.Val832=)
c.*1494G= (n.*1494G=)
c.1971G=
c.2419G= (p.Val807=)
c.*1452G= (n.*1452G=)
c.1051G= (p.Val351=)
c.2575G= (p.Val859=)
c.1339G= (p.Val447=)
c.2377G= (p.Val793=)
c.1531G= (p.Val511=)
c.1486G= (p.Val496=)
c.1318G= (p.Val440=)
c.1192G= (p.Val398=)
12g.32640315G>TCA384372301FGD4c.2083G>T (p.Val695Leu)
c.2338G>T (p.Val780Leu)
c.1804G>T (p.Val602Leu)
c.895G>T (p.Val299Leu)
n.881G>T
c.2494G>T (p.Val832Leu)
c.*1494G>T (n.*1494G>T)
c.1971G>T
c.2419G>T (p.Val807Leu)
c.*1452G>T (n.*1452G>T)
c.1051G>T (p.Val351Leu)
c.2575G>T (p.Val859Leu)
c.1339G>T (p.Val447Leu)
c.2377G>T (p.Val793Leu)
c.1531G>T (p.Val511Leu)
c.1486G>T (p.Val496Leu)
c.1318G>T (p.Val440Leu)
c.1192G>T (p.Val398Leu)
12g.32640316T>ACA384372303FGD4c.2084T>A (p.Val695Glu)
c.2339T>A (p.Val780Glu)
c.1805T>A (p.Val602Glu)
c.896T>A (p.Val299Glu)
n.882T>A
c.2495T>A (p.Val832Glu)
c.*1495T>A (n.*1495T>A)
c.1972T>A
c.2420T>A (p.Val807Glu)
c.*1453T>A (n.*1453T>A)
c.1052T>A (p.Val351Glu)
c.2576T>A (p.Val859Glu)
c.1340T>A (p.Val447Glu)
c.2378T>A (p.Val793Glu)
c.1532T>A (p.Val511Glu)
c.1487T>A (p.Val496Glu)
c.1319T>A (p.Val440Glu)
c.1193T>A (p.Val398Glu)
12g.32640316T>CCA6507113FGD4c.2084T>C (p.Val695Ala)
c.2339T>C (p.Val780Ala)
c.1805T>C (p.Val602Ala)
c.896T>C (p.Val299Ala)
n.882T>C
c.2495T>C (p.Val832Ala)
c.*1495T>C (n.*1495T>C)
c.1972T>C
c.2420T>C (p.Val807Ala)
c.*1453T>C (n.*1453T>C)
c.1052T>C (p.Val351Ala)
c.2576T>C (p.Val859Ala)
c.1340T>C (p.Val447Ala)
c.2378T>C (p.Val793Ala)
c.1532T>C (p.Val511Ala)
c.1487T>C (p.Val496Ala)
c.1319T>C (p.Val440Ala)
c.1193T>C (p.Val398Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.32640316T>GCA384372302FGD4c.2084T>G (p.Val695Gly)
c.2339T>G (p.Val780Gly)
c.1805T>G (p.Val602Gly)
c.896T>G (p.Val299Gly)
n.882T>G
c.2495T>G (p.Val832Gly)
c.*1495T>G (n.*1495T>G)
c.1972T>G
c.2420T>G (p.Val807Gly)
c.*1453T>G (n.*1453T>G)
c.1052T>G (p.Val351Gly)
c.2576T>G (p.Val859Gly)
c.1340T>G (p.Val447Gly)
c.2378T>G (p.Val793Gly)
c.1532T>G (p.Val511Gly)
c.1487T>G (p.Val496Gly)
c.1319T>G (p.Val440Gly)
c.1193T>G (p.Val398Gly)
 gnomAD v4
12g.32640316T=CA2026264629FGD4c.2084T= (p.Val695=)
c.2339T= (p.Val780=)
c.1805T= (p.Val602=)
c.896T= (p.Val299=)
n.882T=
c.2495T= (p.Val832=)
c.*1495T= (n.*1495T=)
c.1972T=
c.2420T= (p.Val807=)
c.*1453T= (n.*1453T=)
c.1052T= (p.Val351=)
c.2576T= (p.Val859=)
c.1340T= (p.Val447=)
c.2378T= (p.Val793=)
c.1532T= (p.Val511=)
c.1487T= (p.Val496=)
c.1319T= (p.Val440=)
c.1193T= (p.Val398=)
12g.32640317G>ACA479386500FGD4c.2085G>A (p.Val695=)
c.2340G>A (p.Val780=)
c.1806G>A (p.Val602=)
c.897G>A (p.Val299=)
n.883G>A
c.2496G>A (p.Val832=)
c.*1496G>A (n.*1496G>A)
c.1973G>A
c.2421G>A (p.Val807=)
c.*1454G>A (n.*1454G>A)
c.1053G>A (p.Val351=)
c.2577G>A (p.Val859=)
c.1341G>A (p.Val447=)
c.2379G>A (p.Val793=)
c.1533G>A (p.Val511=)
c.1488G>A (p.Val496=)
c.1320G>A (p.Val440=)
c.1194G>A (p.Val398=)
 dbSNP
12g.32640317G>CCA479386502FGD4c.2085G>C (p.Val695=)
c.2340G>C (p.Val780=)
c.1806G>C (p.Val602=)
c.897G>C (p.Val299=)
n.883G>C
c.2496G>C (p.Val832=)
c.*1496G>C (n.*1496G>C)
c.1973G>C
c.2421G>C (p.Val807=)
c.*1454G>C (n.*1454G>C)
c.1053G>C (p.Val351=)
c.2577G>C (p.Val859=)
c.1341G>C (p.Val447=)
c.2379G>C (p.Val793=)
c.1533G>C (p.Val511=)
c.1488G>C (p.Val496=)
c.1320G>C (p.Val440=)
c.1194G>C (p.Val398=)
 dbSNP gnomAD v4
12g.32640317G=CA2026264631FGD4c.2085G= (p.Val695=)
c.2340G= (p.Val780=)
c.1806G= (p.Val602=)
c.897G= (p.Val299=)
n.883G=
c.2496G= (p.Val832=)
c.*1496G= (n.*1496G=)
c.1973G=
c.2421G= (p.Val807=)
c.*1454G= (n.*1454G=)
c.1053G= (p.Val351=)
c.2577G= (p.Val859=)
c.1341G= (p.Val447=)
c.2379G= (p.Val793=)
c.1533G= (p.Val511=)
c.1488G= (p.Val496=)
c.1320G= (p.Val440=)
c.1194G= (p.Val398=)
12g.32640317G>TCA479386501FGD4c.2085G>T (p.Val695=)
c.2340G>T (p.Val780=)
c.1806G>T (p.Val602=)
c.897G>T (p.Val299=)
n.883G>T
c.2496G>T (p.Val832=)
c.*1496G>T (n.*1496G>T)
c.1973G>T
c.2421G>T (p.Val807=)
c.*1454G>T (n.*1454G>T)
c.1053G>T (p.Val351=)
c.2577G>T (p.Val859=)
c.1341G>T (p.Val447=)
c.2379G>T (p.Val793=)
c.1533G>T (p.Val511=)
c.1488G>T (p.Val496=)
c.1320G>T (p.Val440=)
c.1194G>T (p.Val398=)
12g.32640318G>ACA384372304FGD4c.2086G>A (p.Val696Met)
c.2341G>A (p.Val781Met)
c.1807G>A (p.Val603Met)
c.898G>A (p.Val300Met)
n.884G>A
c.2497G>A (p.Val833Met)
c.*1497G>A (n.*1497G>A)
c.1974G>A
c.2422G>A (p.Val808Met)
c.*1455G>A (n.*1455G>A)
c.1054G>A (p.Val352Met)
c.2578G>A (p.Val860Met)
c.1342G>A (p.Val448Met)
c.2380G>A (p.Val794Met)
c.1534G>A (p.Val512Met)
c.1489G>A (p.Val497Met)
c.1321G>A (p.Val441Met)
c.1195G>A (p.Val399Met)
12g.32640318G>CCA384372305FGD4c.2086G>C (p.Val696Leu)
c.2341G>C (p.Val781Leu)
c.1807G>C (p.Val603Leu)
c.898G>C (p.Val300Leu)
n.884G>C
c.2497G>C (p.Val833Leu)
c.*1497G>C (n.*1497G>C)
c.1974G>C
c.2422G>C (p.Val808Leu)
c.*1455G>C (n.*1455G>C)
c.1054G>C (p.Val352Leu)
c.2578G>C (p.Val860Leu)
c.1342G>C (p.Val448Leu)
c.2380G>C (p.Val794Leu)
c.1534G>C (p.Val512Leu)
c.1489G>C (p.Val497Leu)
c.1321G>C (p.Val441Leu)
c.1195G>C (p.Val399Leu)
12g.32640318G>TCA384372306FGD4c.2086G>T (p.Val696Leu)
c.2341G>T (p.Val781Leu)
c.1807G>T (p.Val603Leu)
c.898G>T (p.Val300Leu)
n.884G>T
c.2497G>T (p.Val833Leu)
c.*1497G>T (n.*1497G>T)
c.1974G>T
c.2422G>T (p.Val808Leu)
c.*1455G>T (n.*1455G>T)
c.1054G>T (p.Val352Leu)
c.2578G>T (p.Val860Leu)
c.1342G>T (p.Val448Leu)
c.2380G>T (p.Val794Leu)
c.1534G>T (p.Val512Leu)
c.1489G>T (p.Val497Leu)
c.1321G>T (p.Val441Leu)
c.1195G>T (p.Val399Leu)
12g.32640319T>ACA384372307FGD4c.2087T>A (p.Val696Glu)
c.2342T>A (p.Val781Glu)
c.1808T>A (p.Val603Glu)
c.899T>A (p.Val300Glu)
n.885T>A
c.2498T>A (p.Val833Glu)
c.*1498T>A (n.*1498T>A)
c.1975T>A
c.2423T>A (p.Val808Glu)
c.*1456T>A (n.*1456T>A)
c.1055T>A (p.Val352Glu)
c.2579T>A (p.Val860Glu)
c.1343T>A (p.Val448Glu)
c.2381T>A (p.Val794Glu)
c.1535T>A (p.Val512Glu)
c.1490T>A (p.Val497Glu)
c.1322T>A (p.Val441Glu)
c.1196T>A (p.Val399Glu)
12g.32640319T>CCA384372308FGD4c.2087T>C (p.Val696Ala)
c.2342T>C (p.Val781Ala)
c.1808T>C (p.Val603Ala)
c.899T>C (p.Val300Ala)
n.885T>C
c.2498T>C (p.Val833Ala)
c.*1498T>C (n.*1498T>C)
c.1975T>C
c.2423T>C (p.Val808Ala)
c.*1456T>C (n.*1456T>C)
c.1055T>C (p.Val352Ala)
c.2579T>C (p.Val860Ala)
c.1343T>C (p.Val448Ala)
c.2381T>C (p.Val794Ala)
c.1535T>C (p.Val512Ala)
c.1490T>C (p.Val497Ala)
c.1322T>C (p.Val441Ala)
c.1196T>C (p.Val399Ala)
12g.32640319T>GCA384372309FGD4c.2087T>G (p.Val696Gly)
c.2342T>G (p.Val781Gly)
c.1808T>G (p.Val603Gly)
c.899T>G (p.Val300Gly)
n.885T>G
c.2498T>G (p.Val833Gly)
c.*1498T>G (n.*1498T>G)
c.1975T>G
c.2423T>G (p.Val808Gly)
c.*1456T>G (n.*1456T>G)
c.1055T>G (p.Val352Gly)
c.2579T>G (p.Val860Gly)
c.1343T>G (p.Val448Gly)
c.2381T>G (p.Val794Gly)
c.1535T>G (p.Val512Gly)
c.1490T>G (p.Val497Gly)
c.1322T>G (p.Val441Gly)
c.1196T>G (p.Val399Gly)
 gnomAD v4
12g.32640320G>ACA479386503FGD4c.2088G>A (p.Val696=)
c.2343G>A (p.Val781=)
c.1809G>A (p.Val603=)
c.900G>A (p.Val300=)
n.886G>A
c.2499G>A (p.Val833=)
c.*1499G>A (n.*1499G>A)
c.1976G>A
c.2424G>A (p.Val808=)
c.*1457G>A (n.*1457G>A)
c.1056G>A (p.Val352=)
c.2580G>A (p.Val860=)
c.1344G>A (p.Val448=)
c.2382G>A (p.Val794=)
c.1536G>A (p.Val512=)
c.1491G>A (p.Val497=)
c.1323G>A (p.Val441=)
c.1197G>A (p.Val399=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.32640320G>CCA479386504FGD4c.2088G>C (p.Val696=)
c.2343G>C (p.Val781=)
c.1809G>C (p.Val603=)
c.900G>C (p.Val300=)
n.886G>C
c.2499G>C (p.Val833=)
c.*1499G>C (n.*1499G>C)
c.1976G>C
c.2424G>C (p.Val808=)
c.*1457G>C (n.*1457G>C)
c.1056G>C (p.Val352=)
c.2580G>C (p.Val860=)
c.1344G>C (p.Val448=)
c.2382G>C (p.Val794=)
c.1536G>C (p.Val512=)
c.1491G>C (p.Val497=)
c.1323G>C (p.Val441=)
c.1197G>C (p.Val399=)
12g.32640320G=CA2026264639FGD4c.2088G= (p.Val696=)
c.2343G= (p.Val781=)
c.1809G= (p.Val603=)
c.900G= (p.Val300=)
n.886G=
c.2499G= (p.Val833=)
c.*1499G= (n.*1499G=)
c.1976G=
c.2424G= (p.Val808=)
c.*1457G= (n.*1457G=)
c.1056G= (p.Val352=)
c.2580G= (p.Val860=)
c.1344G= (p.Val448=)
c.2382G= (p.Val794=)
c.1536G= (p.Val512=)
c.1491G= (p.Val497=)
c.1323G= (p.Val441=)
c.1197G= (p.Val399=)
12g.32640320G>TCA479386505FGD4c.2088G>T (p.Val696=)
c.2343G>T (p.Val781=)
c.1809G>T (p.Val603=)
c.900G>T (p.Val300=)
n.886G>T
c.2499G>T (p.Val833=)
c.*1499G>T (n.*1499G>T)
c.1976G>T
c.2424G>T (p.Val808=)
c.*1457G>T (n.*1457G>T)
c.1056G>T (p.Val352=)
c.2580G>T (p.Val860=)
c.1344G>T (p.Val448=)
c.2382G>T (p.Val794=)
c.1536G>T (p.Val512=)
c.1491G>T (p.Val497=)
c.1323G>T (p.Val441=)
c.1197G>T (p.Val399=)
12g.32640321G>ACA384372310FGD4c.2089G>A (p.Asp697Asn)
c.2344G>A (p.Asp782Asn)
c.1810G>A (p.Asp604Asn)
c.901G>A (p.Asp301Asn)
n.887G>A
c.2500G>A (p.Asp834Asn)
c.*1500G>A (n.*1500G>A)
c.1977G>A
c.2425G>A (p.Asp809Asn)
c.*1458G>A (n.*1458G>A)
c.1057G>A (p.Asp353Asn)
c.2581G>A (p.Asp861Asn)
c.1345G>A (p.Asp449Asn)
c.2383G>A (p.Asp795Asn)
c.1537G>A (p.Asp513Asn)
c.1492G>A (p.Asp498Asn)
c.1324G>A (p.Asp442Asn)
c.1198G>A (p.Asp400Asn)
12g.32640321G>CCA384372311FGD4c.2089G>C (p.Asp697His)
c.2344G>C (p.Asp782His)
c.1810G>C (p.Asp604His)
c.901G>C (p.Asp301His)
n.887G>C
c.2500G>C (p.Asp834His)
c.*1500G>C (n.*1500G>C)
c.1977G>C
c.2425G>C (p.Asp809His)
c.*1458G>C (n.*1458G>C)
c.1057G>C (p.Asp353His)
c.2581G>C (p.Asp861His)
c.1345G>C (p.Asp449His)
c.2383G>C (p.Asp795His)
c.1537G>C (p.Asp513His)
c.1492G>C (p.Asp498His)
c.1324G>C (p.Asp442His)
c.1198G>C (p.Asp400His)
12g.32640321G>TCA384372312FGD4c.2089G>T (p.Asp697Tyr)
c.2344G>T (p.Asp782Tyr)
c.1810G>T (p.Asp604Tyr)
c.901G>T (p.Asp301Tyr)
n.887G>T
c.2500G>T (p.Asp834Tyr)
c.*1500G>T (n.*1500G>T)
c.1977G>T
c.2425G>T (p.Asp809Tyr)
c.*1458G>T (n.*1458G>T)
c.1057G>T (p.Asp353Tyr)
c.2581G>T (p.Asp861Tyr)
c.1345G>T (p.Asp449Tyr)
c.2383G>T (p.Asp795Tyr)
c.1537G>T (p.Asp513Tyr)
c.1492G>T (p.Asp498Tyr)
c.1324G>T (p.Asp442Tyr)
c.1198G>T (p.Asp400Tyr)
12g.32640322A>CCA384372313FGD4c.2090A>C (p.Asp697Ala)
c.2345A>C (p.Asp782Ala)
c.1811A>C (p.Asp604Ala)
c.902A>C (p.Asp301Ala)
n.888A>C
c.2501A>C (p.Asp834Ala)
c.*1501A>C (n.*1501A>C)
c.1978A>C
c.2426A>C (p.Asp809Ala)
c.*1459A>C (n.*1459A>C)
c.1058A>C (p.Asp353Ala)
c.2582A>C (p.Asp861Ala)
c.1346A>C (p.Asp449Ala)
c.2384A>C (p.Asp795Ala)
c.1538A>C (p.Asp513Ala)
c.1493A>C (p.Asp498Ala)
c.1325A>C (p.Asp442Ala)
c.1199A>C (p.Asp400Ala)
12g.32640322A>GCA384372314FGD4c.2090A>G (p.Asp697Gly)
c.2345A>G (p.Asp782Gly)
c.1811A>G (p.Asp604Gly)
c.902A>G (p.Asp301Gly)
n.888A>G
c.2501A>G (p.Asp834Gly)
c.*1501A>G (n.*1501A>G)
c.1978A>G
c.2426A>G (p.Asp809Gly)
c.*1459A>G (n.*1459A>G)
c.1058A>G (p.Asp353Gly)
c.2582A>G (p.Asp861Gly)
c.1346A>G (p.Asp449Gly)
c.2384A>G (p.Asp795Gly)
c.1538A>G (p.Asp513Gly)
c.1493A>G (p.Asp498Gly)
c.1325A>G (p.Asp442Gly)
c.1199A>G (p.Asp400Gly)
12g.32640322A>TCA384372315FGD4c.2090A>T (p.Asp697Val)
c.2345A>T (p.Asp782Val)
c.1811A>T (p.Asp604Val)
c.902A>T (p.Asp301Val)
n.888A>T
c.2501A>T (p.Asp834Val)
c.*1501A>T (n.*1501A>T)
c.1978A>T
c.2426A>T (p.Asp809Val)
c.*1459A>T (n.*1459A>T)
c.1058A>T (p.Asp353Val)
c.2582A>T (p.Asp861Val)
c.1346A>T (p.Asp449Val)
c.2384A>T (p.Asp795Val)
c.1538A>T (p.Asp513Val)
c.1493A>T (p.Asp498Val)
c.1325A>T (p.Asp442Val)
c.1199A>T (p.Asp400Val)
12g.32640323T>ACA384372316FGD4c.2091T>A (p.Asp697Glu)
c.2346T>A (p.Asp782Glu)
c.1812T>A (p.Asp604Glu)
c.903T>A (p.Asp301Glu)
n.889T>A
c.2502T>A (p.Asp834Glu)
c.*1502T>A (n.*1502T>A)
c.1979T>A
c.2427T>A (p.Asp809Glu)
c.*1460T>A (n.*1460T>A)
c.1059T>A (p.Asp353Glu)
c.2583T>A (p.Asp861Glu)
c.1347T>A (p.Asp449Glu)
c.2385T>A (p.Asp795Glu)
c.1539T>A (p.Asp513Glu)
c.1494T>A (p.Asp498Glu)
c.1326T>A (p.Asp442Glu)
c.1200T>A (p.Asp400Glu)
12g.32640323T>CCA479386506FGD4c.2091T>C (p.Asp697=)
c.2346T>C (p.Asp782=)
c.1812T>C (p.Asp604=)
c.903T>C (p.Asp301=)
n.889T>C
c.2502T>C (p.Asp834=)
c.*1502T>C (n.*1502T>C)
c.1979T>C
c.2427T>C (p.Asp809=)
c.*1460T>C (n.*1460T>C)
c.1059T>C (p.Asp353=)
c.2583T>C (p.Asp861=)
c.1347T>C (p.Asp449=)
c.2385T>C (p.Asp795=)
c.1539T>C (p.Asp513=)
c.1494T>C (p.Asp498=)
c.1326T>C (p.Asp442=)
c.1200T>C (p.Asp400=)
12g.32640323T>GCA384372317FGD4c.2091T>G (p.Asp697Glu)
c.2346T>G (p.Asp782Glu)
c.1812T>G (p.Asp604Glu)
c.903T>G (p.Asp301Glu)
n.889T>G
c.2502T>G (p.Asp834Glu)
c.*1502T>G (n.*1502T>G)
c.1979T>G
c.2427T>G (p.Asp809Glu)
c.*1460T>G (n.*1460T>G)
c.1059T>G (p.Asp353Glu)
c.2583T>G (p.Asp861Glu)
c.1347T>G (p.Asp449Glu)
c.2385T>G (p.Asp795Glu)
c.1539T>G (p.Asp513Glu)
c.1494T>G (p.Asp498Glu)
c.1326T>G (p.Asp442Glu)
c.1200T>G (p.Asp400Glu)
12g.32640324G>ACA384372318FGD4c.2092G>A (p.Glu698Lys)
c.2347G>A (p.Glu783Lys)
c.1813G>A (p.Glu605Lys)
c.904G>A (p.Glu302Lys)
n.890G>A
c.2503G>A (p.Glu835Lys)
c.*1503G>A (n.*1503G>A)
c.1980G>A
c.2428G>A (p.Glu810Lys)
c.*1461G>A (n.*1461G>A)
c.1060G>A (p.Glu354Lys)
c.2584G>A (p.Glu862Lys)
c.1348G>A (p.Glu450Lys)
c.2386G>A (p.Glu796Lys)
c.1540G>A (p.Glu514Lys)
c.1495G>A (p.Glu499Lys)
c.1327G>A (p.Glu443Lys)
c.1201G>A (p.Glu401Lys)
12g.32640324G>CCA384372319FGD4c.2092G>C (p.Glu698Gln)
c.2347G>C (p.Glu783Gln)
c.1813G>C (p.Glu605Gln)
c.904G>C (p.Glu302Gln)
n.890G>C
c.2503G>C (p.Glu835Gln)
c.*1503G>C (n.*1503G>C)
c.1980G>C
c.2428G>C (p.Glu810Gln)
c.*1461G>C (n.*1461G>C)
c.1060G>C (p.Glu354Gln)
c.2584G>C (p.Glu862Gln)
c.1348G>C (p.Glu450Gln)
c.2386G>C (p.Glu796Gln)
c.1540G>C (p.Glu514Gln)
c.1495G>C (p.Glu499Gln)
c.1327G>C (p.Glu443Gln)
c.1201G>C (p.Glu401Gln)
12g.32640324G>TCA384372320FGD4c.2092G>T (p.Glu698Ter)
c.2347G>T (p.Glu783Ter)
c.1813G>T (p.Glu605Ter)
c.904G>T (p.Glu302Ter)
n.890G>T
c.2503G>T (p.Glu835Ter)
c.*1503G>T (n.*1503G>T)
c.1980G>T
c.2428G>T (p.Glu810Ter)
c.*1461G>T (n.*1461G>T)
c.1060G>T (p.Glu354Ter)
c.2584G>T (p.Glu862Ter)
c.1348G>T (p.Glu450Ter)
c.2386G>T (p.Glu796Ter)
c.1540G>T (p.Glu514Ter)
c.1495G>T (p.Glu499Ter)
c.1327G>T (p.Glu443Ter)
c.1201G>T (p.Glu401Ter)
12g.32640325A>CCA384372321FGD4c.2093A>C (p.Glu698Ala)
c.2348A>C (p.Glu783Ala)
c.1814A>C (p.Glu605Ala)
c.905A>C (p.Glu302Ala)
n.891A>C
c.2504A>C (p.Glu835Ala)
c.*1504A>C (n.*1504A>C)
c.1981A>C
c.2429A>C (p.Glu810Ala)
c.*1462A>C (n.*1462A>C)
c.1061A>C (p.Glu354Ala)
c.2585A>C (p.Glu862Ala)
c.1349A>C (p.Glu450Ala)
c.2387A>C (p.Glu796Ala)
c.1541A>C (p.Glu514Ala)
c.1496A>C (p.Glu499Ala)
c.1328A>C (p.Glu443Ala)
c.1202A>C (p.Glu401Ala)
12g.32640325A>GCA384372322FGD4c.2093A>G (p.Glu698Gly)
c.2348A>G (p.Glu783Gly)
c.1814A>G (p.Glu605Gly)
c.905A>G (p.Glu302Gly)
n.891A>G
c.2504A>G (p.Glu835Gly)
c.*1504A>G (n.*1504A>G)
c.1981A>G
c.2429A>G (p.Glu810Gly)
c.*1462A>G (n.*1462A>G)
c.1061A>G (p.Glu354Gly)
c.2585A>G (p.Glu862Gly)
c.1349A>G (p.Glu450Gly)
c.2387A>G (p.Glu796Gly)
c.1541A>G (p.Glu514Gly)
c.1496A>G (p.Glu499Gly)
c.1328A>G (p.Glu443Gly)
c.1202A>G (p.Glu401Gly)
12g.32640325A>TCA384372323FGD4c.2093A>T (p.Glu698Val)
c.2348A>T (p.Glu783Val)
c.1814A>T (p.Glu605Val)
c.905A>T (p.Glu302Val)
n.891A>T
c.2504A>T (p.Glu835Val)
c.*1504A>T (n.*1504A>T)
c.1981A>T
c.2429A>T (p.Glu810Val)
c.*1462A>T (n.*1462A>T)
c.1061A>T (p.Glu354Val)
c.2585A>T (p.Glu862Val)
c.1349A>T (p.Glu450Val)
c.2387A>T (p.Glu796Val)
c.1541A>T (p.Glu514Val)
c.1496A>T (p.Glu499Val)
c.1328A>T (p.Glu443Val)
c.1202A>T (p.Glu401Val)
12g.32640326A>CCA384372325FGD4c.2094A>C (p.Glu698Asp)
c.2349A>C (p.Glu783Asp)
c.1815A>C (p.Glu605Asp)
c.906A>C (p.Glu302Asp)
n.892A>C
c.2505A>C (p.Glu835Asp)
c.*1505A>C (n.*1505A>C)
c.1982A>C
c.2430A>C (p.Glu810Asp)
c.*1463A>C (n.*1463A>C)
c.1062A>C (p.Glu354Asp)
c.2586A>C (p.Glu862Asp)
c.1350A>C (p.Glu450Asp)
c.2388A>C (p.Glu796Asp)
c.1542A>C (p.Glu514Asp)
c.1497A>C (p.Glu499Asp)
c.1329A>C (p.Glu443Asp)
c.1203A>C (p.Glu401Asp)
12g.32640326A>GCA479386507FGD4c.2094A>G (p.Glu698=)
c.2349A>G (p.Glu783=)
c.1815A>G (p.Glu605=)
c.906A>G (p.Glu302=)
n.892A>G
c.2505A>G (p.Glu835=)
c.*1505A>G (n.*1505A>G)
c.1982A>G
c.2430A>G (p.Glu810=)
c.*1463A>G (n.*1463A>G)
c.1062A>G (p.Glu354=)
c.2586A>G (p.Glu862=)
c.1350A>G (p.Glu450=)
c.2388A>G (p.Glu796=)
c.1542A>G (p.Glu514=)
c.1497A>G (p.Glu499=)
c.1329A>G (p.Glu443=)
c.1203A>G (p.Glu401=)
12g.32640326A>TCA384372324FGD4c.2094A>T (p.Glu698Asp)
c.2349A>T (p.Glu783Asp)
c.1815A>T (p.Glu605Asp)
c.906A>T (p.Glu302Asp)
n.892A>T
c.2505A>T (p.Glu835Asp)
c.*1505A>T (n.*1505A>T)
c.1982A>T
c.2430A>T (p.Glu810Asp)
c.*1463A>T (n.*1463A>T)
c.1062A>T (p.Glu354Asp)
c.2586A>T (p.Glu862Asp)
c.1350A>T (p.Glu450Asp)
c.2388A>T (p.Glu796Asp)
c.1542A>T (p.Glu514Asp)
c.1497A>T (p.Glu499Asp)
c.1329A>T (p.Glu443Asp)
c.1203A>T (p.Glu401Asp)
12g.32640328_32640333delCA2575117704FGD4c.2096_2101del (p.Met699_Pro700del)
c.2351_2356del (p.Met784_Pro785del)
c.1817_1822del (p.Met606_Pro607del)
c.908_913del (p.Met303_Pro304del)
n.894_899del
c.2507_2512del (p.Met836_Pro837del)
c.*1507_*1512del (n.*1507_*1512del)
c.1984_1989del
c.2432_2437del (p.Met811_Pro812del)
c.*1465_*1470del (n.*1465_*1470del)
c.1064_1069del (p.Met355_Pro356del)
c.2588_2593del (p.Met863_Pro864del)
c.1352_1357del (p.Met451_Pro452del)
c.2390_2395del (p.Met797_Pro798del)
c.1544_1549del (p.Met515_Pro516del)
c.1499_1504del (p.Met500_Pro501del)
c.1331_1336del (p.Met444_Pro445del)
c.1205_1210del (p.Met402_Pro403del)
12g.32640327A=CA2026264644FGD4c.2095A= (p.Met699=)
c.2350A= (p.Met784=)
c.1816A= (p.Met606=)
c.907A= (p.Met303=)
n.893A=
c.2506A= (p.Met836=)
c.*1506A= (n.*1506A=)
c.1983A=
c.2431A= (p.Met811=)
c.*1464A= (n.*1464A=)
c.1063A= (p.Met355=)
c.2587A= (p.Met863=)
c.1351A= (p.Met451=)
c.2389A= (p.Met797=)
c.1543A= (p.Met515=)
c.1498A= (p.Met500=)
c.1330A= (p.Met444=)
c.1204A= (p.Met402=)
12g.32640327A>CCA384372326FGD4c.2095A>C (p.Met699Leu)
c.2350A>C (p.Met784Leu)
c.1816A>C (p.Met606Leu)
c.907A>C (p.Met303Leu)
n.893A>C
c.2506A>C (p.Met836Leu)
c.*1506A>C (n.*1506A>C)
c.1983A>C
c.2431A>C (p.Met811Leu)
c.*1464A>C (n.*1464A>C)
c.1063A>C (p.Met355Leu)
c.2587A>C (p.Met863Leu)
c.1351A>C (p.Met451Leu)
c.2389A>C (p.Met797Leu)
c.1543A>C (p.Met515Leu)
c.1498A>C (p.Met500Leu)
c.1330A>C (p.Met444Leu)
c.1204A>C (p.Met402Leu)
12g.32640327A>GCA6507114FGD4c.2095A>G (p.Met699Val)
c.2350A>G (p.Met784Val)
c.1816A>G (p.Met606Val)
c.907A>G (p.Met303Val)
n.893A>G
c.2506A>G (p.Met836Val)
c.*1506A>G (n.*1506A>G)
c.1983A>G
c.2431A>G (p.Met811Val)
c.*1464A>G (n.*1464A>G)
c.1063A>G (p.Met355Val)
c.2587A>G (p.Met863Val)
c.1351A>G (p.Met451Val)
c.2389A>G (p.Met797Val)
c.1543A>G (p.Met515Val)
c.1498A>G (p.Met500Val)
c.1330A>G (p.Met444Val)
c.1204A>G (p.Met402Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32640327A>TCA384372327FGD4c.2095A>T (p.Met699Leu)
c.2350A>T (p.Met784Leu)
c.1816A>T (p.Met606Leu)
c.907A>T (p.Met303Leu)
n.893A>T
c.2506A>T (p.Met836Leu)
c.*1506A>T (n.*1506A>T)
c.1983A>T
c.2431A>T (p.Met811Leu)
c.*1464A>T (n.*1464A>T)
c.1063A>T (p.Met355Leu)
c.2587A>T (p.Met863Leu)
c.1351A>T (p.Met451Leu)
c.2389A>T (p.Met797Leu)
c.1543A>T (p.Met515Leu)
c.1498A>T (p.Met500Leu)
c.1330A>T (p.Met444Leu)
c.1204A>T (p.Met402Leu)
12g.32640328T>ACA384372328FGD4c.2096T>A (p.Met699Lys)
c.2351T>A (p.Met784Lys)
c.1817T>A (p.Met606Lys)
c.908T>A (p.Met303Lys)
n.894T>A
c.2507T>A (p.Met836Lys)
c.*1507T>A (n.*1507T>A)
c.1984T>A
c.2432T>A (p.Met811Lys)
c.*1465T>A (n.*1465T>A)
c.1064T>A (p.Met355Lys)
c.2588T>A (p.Met863Lys)
c.1352T>A (p.Met451Lys)
c.2390T>A (p.Met797Lys)
c.1544T>A (p.Met515Lys)
c.1499T>A (p.Met500Lys)
c.1331T>A (p.Met444Lys)
c.1205T>A (p.Met402Lys)
12g.32640328T>CCA6507115FGD4c.2096T>C (p.Met699Thr)
c.2351T>C (p.Met784Thr)
c.1817T>C (p.Met606Thr)
c.908T>C (p.Met303Thr)
n.894T>C
c.2507T>C (p.Met836Thr)
c.*1507T>C (n.*1507T>C)
c.1984T>C
c.2432T>C (p.Met811Thr)
c.*1465T>C (n.*1465T>C)
c.1064T>C (p.Met355Thr)
c.2588T>C (p.Met863Thr)
c.1352T>C (p.Met451Thr)
c.2390T>C (p.Met797Thr)
c.1544T>C (p.Met515Thr)
c.1499T>C (p.Met500Thr)
c.1331T>C (p.Met444Thr)
c.1205T>C (p.Met402Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.32640328T>GCA384372329FGD4c.2096T>G (p.Met699Arg)
c.2351T>G (p.Met784Arg)
c.1817T>G (p.Met606Arg)
c.908T>G (p.Met303Arg)
n.894T>G
c.2507T>G (p.Met836Arg)
c.*1507T>G (n.*1507T>G)
c.1984T>G
c.2432T>G (p.Met811Arg)
c.*1465T>G (n.*1465T>G)
c.1064T>G (p.Met355Arg)
c.2588T>G (p.Met863Arg)
c.1352T>G (p.Met451Arg)
c.2390T>G (p.Met797Arg)
c.1544T>G (p.Met515Arg)
c.1499T>G (p.Met500Arg)
c.1331T>G (p.Met444Arg)
c.1205T>G (p.Met402Arg)
12g.32640328T=CA2026264649FGD4c.2096T= (p.Met699=)
c.2351T= (p.Met784=)
c.1817T= (p.Met606=)
c.908T= (p.Met303=)
n.894T=
c.2507T= (p.Met836=)
c.*1507T= (n.*1507T=)
c.1984T=
c.2432T= (p.Met811=)
c.*1465T= (n.*1465T=)
c.1064T= (p.Met355=)
c.2588T= (p.Met863=)
c.1352T= (p.Met451=)
c.2390T= (p.Met797=)
c.1544T= (p.Met515=)
c.1499T= (p.Met500=)
c.1331T= (p.Met444=)
c.1205T= (p.Met402=)
12g.32640329G>ACA384372330FGD4c.2097G>A (p.Met699Ile)
c.2352G>A (p.Met784Ile)
c.1818G>A (p.Met606Ile)
c.909G>A (p.Met303Ile)
n.895G>A
c.2508G>A (p.Met836Ile)
c.*1508G>A (n.*1508G>A)
c.1985G>A
c.2433G>A (p.Met811Ile)
c.*1466G>A (n.*1466G>A)
c.1065G>A (p.Met355Ile)
c.2589G>A (p.Met863Ile)
c.1353G>A (p.Met451Ile)
c.2391G>A (p.Met797Ile)
c.1545G>A (p.Met515Ile)
c.1500G>A (p.Met500Ile)
c.1332G>A (p.Met444Ile)
c.1206G>A (p.Met402Ile)
 gnomAD v4
12g.32640329G>CCA384372332FGD4c.2097G>C (p.Met699Ile)
c.2352G>C (p.Met784Ile)
c.1818G>C (p.Met606Ile)
c.909G>C (p.Met303Ile)
n.895G>C
c.2508G>C (p.Met836Ile)
c.*1508G>C (n.*1508G>C)
c.1985G>C
c.2433G>C (p.Met811Ile)
c.*1466G>C (n.*1466G>C)
c.1065G>C (p.Met355Ile)
c.2589G>C (p.Met863Ile)
c.1353G>C (p.Met451Ile)
c.2391G>C (p.Met797Ile)
c.1545G>C (p.Met515Ile)
c.1500G>C (p.Met500Ile)
c.1332G>C (p.Met444Ile)
c.1206G>C (p.Met402Ile)
12g.32640329G>TCA384372331FGD4c.2097G>T (p.Met699Ile)
c.2352G>T (p.Met784Ile)
c.1818G>T (p.Met606Ile)
c.909G>T (p.Met303Ile)
n.895G>T
c.2508G>T (p.Met836Ile)
c.*1508G>T (n.*1508G>T)
c.1985G>T
c.2433G>T (p.Met811Ile)
c.*1466G>T (n.*1466G>T)
c.1065G>T (p.Met355Ile)
c.2589G>T (p.Met863Ile)
c.1353G>T (p.Met451Ile)
c.2391G>T (p.Met797Ile)
c.1545G>T (p.Met515Ile)
c.1500G>T (p.Met500Ile)
c.1332G>T (p.Met444Ile)
c.1206G>T (p.Met402Ile)
12g.32640330C>ACA235247869FGD4c.2098C>A (p.Pro700Thr)
c.2353C>A (p.Pro785Thr)
c.1819C>A (p.Pro607Thr)
c.910C>A (p.Pro304Thr)
n.896C>A
c.2509C>A (p.Pro837Thr)
c.*1509C>A (n.*1509C>A)
c.1986C>A
c.2434C>A (p.Pro812Thr)
c.*1467C>A (n.*1467C>A)
c.1066C>A (p.Pro356Thr)
c.2590C>A (p.Pro864Thr)
c.1354C>A (p.Pro452Thr)
c.2392C>A (p.Pro798Thr)
c.1546C>A (p.Pro516Thr)
c.1501C>A (p.Pro501Thr)
c.1333C>A (p.Pro445Thr)
c.1207C>A (p.Pro403Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.32640330C=CA2026264651FGD4c.2098C= (p.Pro700=)
c.2353C= (p.Pro785=)
c.1819C= (p.Pro607=)
c.910C= (p.Pro304=)
n.896C=
c.2509C= (p.Pro837=)
c.*1509C= (n.*1509C=)
c.1986C=
c.2434C= (p.Pro812=)
c.*1467C= (n.*1467C=)
c.1066C= (p.Pro356=)
c.2590C= (p.Pro864=)
c.1354C= (p.Pro452=)
c.2392C= (p.Pro798=)
c.1546C= (p.Pro516=)
c.1501C= (p.Pro501=)
c.1333C= (p.Pro445=)
c.1207C= (p.Pro403=)
12g.32640330C>GCA384372333FGD4c.2098C>G (p.Pro700Ala)
c.2353C>G (p.Pro785Ala)
c.1819C>G (p.Pro607Ala)
c.910C>G (p.Pro304Ala)
n.896C>G
c.2509C>G (p.Pro837Ala)
c.*1509C>G (n.*1509C>G)
c.1986C>G
c.2434C>G (p.Pro812Ala)
c.*1467C>G (n.*1467C>G)
c.1066C>G (p.Pro356Ala)
c.2590C>G (p.Pro864Ala)
c.1354C>G (p.Pro452Ala)
c.2392C>G (p.Pro798Ala)
c.1546C>G (p.Pro516Ala)
c.1501C>G (p.Pro501Ala)
c.1333C>G (p.Pro445Ala)
c.1207C>G (p.Pro403Ala)
12g.32640330C>TCA384372334FGD4c.2098C>T (p.Pro700Ser)
c.2353C>T (p.Pro785Ser)
c.1819C>T (p.Pro607Ser)
c.910C>T (p.Pro304Ser)
n.896C>T
c.2509C>T (p.Pro837Ser)
c.*1509C>T (n.*1509C>T)
c.1986C>T
c.2434C>T (p.Pro812Ser)
c.*1467C>T (n.*1467C>T)
c.1066C>T (p.Pro356Ser)
c.2590C>T (p.Pro864Ser)
c.1354C>T (p.Pro452Ser)
c.2392C>T (p.Pro798Ser)
c.1546C>T (p.Pro516Ser)
c.1501C>T (p.Pro501Ser)
c.1333C>T (p.Pro445Ser)
c.1207C>T (p.Pro403Ser)
12g.32640331C>ACA384372335FGD4c.2099C>A (p.Pro700Gln)
c.2354C>A (p.Pro785Gln)
c.1820C>A (p.Pro607Gln)
c.911C>A (p.Pro304Gln)
n.897C>A
c.2510C>A (p.Pro837Gln)
c.*1510C>A (n.*1510C>A)
c.1987C>A
c.2435C>A (p.Pro812Gln)
c.*1468C>A (n.*1468C>A)
c.1067C>A (p.Pro356Gln)
c.2591C>A (p.Pro864Gln)
c.1355C>A (p.Pro452Gln)
c.2393C>A (p.Pro798Gln)
c.1547C>A (p.Pro516Gln)
c.1502C>A (p.Pro501Gln)
c.1334C>A (p.Pro445Gln)
c.1208C>A (p.Pro403Gln)
 dbSNP
12g.32640331C=CA2026264660FGD4c.2099C= (p.Pro700=)
c.2354C= (p.Pro785=)
c.1820C= (p.Pro607=)
c.911C= (p.Pro304=)
n.897C=
c.2510C= (p.Pro837=)
c.*1510C= (n.*1510C=)
c.1987C=
c.2435C= (p.Pro812=)
c.*1468C= (n.*1468C=)
c.1067C= (p.Pro356=)
c.2591C= (p.Pro864=)
c.1355C= (p.Pro452=)
c.2393C= (p.Pro798=)
c.1547C= (p.Pro516=)
c.1502C= (p.Pro501=)
c.1334C= (p.Pro445=)
c.1208C= (p.Pro403=)
12g.32640331C>GCA384372336FGD4c.2099C>G (p.Pro700Arg)
c.2354C>G (p.Pro785Arg)
c.1820C>G (p.Pro607Arg)
c.911C>G (p.Pro304Arg)
n.897C>G
c.2510C>G (p.Pro837Arg)
c.*1510C>G (n.*1510C>G)
c.1987C>G
c.2435C>G (p.Pro812Arg)
c.*1468C>G (n.*1468C>G)
c.1067C>G (p.Pro356Arg)
c.2591C>G (p.Pro864Arg)
c.1355C>G (p.Pro452Arg)
c.2393C>G (p.Pro798Arg)
c.1547C>G (p.Pro516Arg)
c.1502C>G (p.Pro501Arg)
c.1334C>G (p.Pro445Arg)
c.1208C>G (p.Pro403Arg)
12g.32640331C>TCA384372337FGD4c.2099C>T (p.Pro700Leu)
c.2354C>T (p.Pro785Leu)
c.1820C>T (p.Pro607Leu)
c.911C>T (p.Pro304Leu)
n.897C>T
c.2510C>T (p.Pro837Leu)
c.*1510C>T (n.*1510C>T)
c.1987C>T
c.2435C>T (p.Pro812Leu)
c.*1468C>T (n.*1468C>T)
c.1067C>T (p.Pro356Leu)
c.2591C>T (p.Pro864Leu)
c.1355C>T (p.Pro452Leu)
c.2393C>T (p.Pro798Leu)
c.1547C>T (p.Pro516Leu)
c.1502C>T (p.Pro501Leu)
c.1334C>T (p.Pro445Leu)
c.1208C>T (p.Pro403Leu)
12g.32640332A>CCA479386510FGD4c.2100A>C (p.Pro700=)
c.2355A>C (p.Pro785=)
c.1821A>C (p.Pro607=)
c.912A>C (p.Pro304=)
n.898A>C
c.2511A>C (p.Pro837=)
c.*1511A>C (n.*1511A>C)
c.1988A>C
c.2436A>C (p.Pro812=)
c.*1469A>C (n.*1469A>C)
c.1068A>C (p.Pro356=)
c.2592A>C (p.Pro864=)
c.1356A>C (p.Pro452=)
c.2394A>C (p.Pro798=)
c.1548A>C (p.Pro516=)
c.1503A>C (p.Pro501=)
c.1335A>C (p.Pro445=)
c.1209A>C (p.Pro403=)
12g.32640332A>GCA479386508FGD4c.2100A>G (p.Pro700=)
c.2355A>G (p.Pro785=)
c.1821A>G (p.Pro607=)
c.912A>G (p.Pro304=)
n.898A>G
c.2511A>G (p.Pro837=)
c.*1511A>G (n.*1511A>G)
c.1988A>G
c.2436A>G (p.Pro812=)
c.*1469A>G (n.*1469A>G)
c.1068A>G (p.Pro356=)
c.2592A>G (p.Pro864=)
c.1356A>G (p.Pro452=)
c.2394A>G (p.Pro798=)
c.1548A>G (p.Pro516=)
c.1503A>G (p.Pro501=)
c.1335A>G (p.Pro445=)
c.1209A>G (p.Pro403=)
12g.32640332A>TCA479386509FGD4c.2100A>T (p.Pro700=)
c.2355A>T (p.Pro785=)
c.1821A>T (p.Pro607=)
c.912A>T (p.Pro304=)
n.898A>T
c.2511A>T (p.Pro837=)
c.*1511A>T (n.*1511A>T)
c.1988A>T
c.2436A>T (p.Pro812=)
c.*1469A>T (n.*1469A>T)
c.1068A>T (p.Pro356=)
c.2592A>T (p.Pro864=)
c.1356A>T (p.Pro452=)
c.2394A>T (p.Pro798=)
c.1548A>T (p.Pro516=)
c.1503A>T (p.Pro501=)
c.1335A>T (p.Pro445=)
c.1209A>T (p.Pro403=)
12g.32640333A=CA2026264665FGD4c.2101A= (p.Arg701=)
c.2356A= (p.Arg786=)
c.1822A= (p.Arg608=)
c.913A= (p.Arg305=)
n.899A=
c.2512A= (p.Arg838=)
c.*1512A= (n.*1512A=)
c.1989A=
c.2437A= (p.Arg813=)
c.*1470A= (n.*1470A=)
c.1069A= (p.Arg357=)
c.2593A= (p.Arg865=)
c.1357A= (p.Arg453=)
c.2395A= (p.Arg799=)
c.1549A= (p.Arg517=)
c.1504A= (p.Arg502=)
c.1336A= (p.Arg446=)
c.1210A= (p.Arg404=)
12g.32640333A>CCA479386511FGD4c.2101A>C (p.Arg701=)
c.2356A>C (p.Arg786=)
c.1822A>C (p.Arg608=)
c.913A>C (p.Arg305=)
n.899A>C
c.2512A>C (p.Arg838=)
c.*1512A>C (n.*1512A>C)
c.1989A>C
c.2437A>C (p.Arg813=)
c.*1470A>C (n.*1470A>C)
c.1069A>C (p.Arg357=)
c.2593A>C (p.Arg865=)
c.1357A>C (p.Arg453=)
c.2395A>C (p.Arg799=)
c.1549A>C (p.Arg517=)
c.1504A>C (p.Arg502=)
c.1336A>C (p.Arg446=)
c.1210A>C (p.Arg404=)
12g.32640333A>GCA6507116FGD4c.2101A>G (p.Arg701Gly)
c.2356A>G (p.Arg786Gly)
c.1822A>G (p.Arg608Gly)
c.913A>G (p.Arg305Gly)
n.899A>G
c.2512A>G (p.Arg838Gly)
c.*1512A>G (n.*1512A>G)
c.1989A>G
c.2437A>G (p.Arg813Gly)
c.*1470A>G (n.*1470A>G)
c.1069A>G (p.Arg357Gly)
c.2593A>G (p.Arg865Gly)
c.1357A>G (p.Arg453Gly)
c.2395A>G (p.Arg799Gly)
c.1549A>G (p.Arg517Gly)
c.1504A>G (p.Arg502Gly)
c.1336A>G (p.Arg446Gly)
c.1210A>G (p.Arg404Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32640333A>TCA384372338FGD4c.2101A>T (p.Arg701Trp)
c.2356A>T (p.Arg786Trp)
c.1822A>T (p.Arg608Trp)
c.913A>T (p.Arg305Trp)
n.899A>T
c.2512A>T (p.Arg838Trp)
c.*1512A>T (n.*1512A>T)
c.1989A>T
c.2437A>T (p.Arg813Trp)
c.*1470A>T (n.*1470A>T)
c.1069A>T (p.Arg357Trp)
c.2593A>T (p.Arg865Trp)
c.1357A>T (p.Arg453Trp)
c.2395A>T (p.Arg799Trp)
c.1549A>T (p.Arg517Trp)
c.1504A>T (p.Arg502Trp)
c.1336A>T (p.Arg446Trp)
c.1210A>T (p.Arg404Trp)
12g.32640334G>ACA384372339FGD4c.2102G>A (p.Arg701Lys)
c.2357G>A (p.Arg786Lys)
c.1823G>A (p.Arg608Lys)
c.914G>A (p.Arg305Lys)
n.900G>A
c.2513G>A (p.Arg838Lys)
c.*1513G>A (n.*1513G>A)
c.1990G>A
c.2438G>A (p.Arg813Lys)
c.*1471G>A (n.*1471G>A)
c.1070G>A (p.Arg357Lys)
c.2594G>A (p.Arg865Lys)
c.1358G>A (p.Arg453Lys)
c.2396G>A (p.Arg799Lys)
c.1550G>A (p.Arg517Lys)
c.1505G>A (p.Arg502Lys)
c.1337G>A (p.Arg446Lys)
c.1211G>A (p.Arg404Lys)
12g.32640334G>CCA384372340FGD4c.2102G>C (p.Arg701Thr)
c.2357G>C (p.Arg786Thr)
c.1823G>C (p.Arg608Thr)
c.914G>C (p.Arg305Thr)
n.900G>C
c.2513G>C (p.Arg838Thr)
c.*1513G>C (n.*1513G>C)
c.1990G>C
c.2438G>C (p.Arg813Thr)
c.*1471G>C (n.*1471G>C)
c.1070G>C (p.Arg357Thr)
c.2594G>C (p.Arg865Thr)
c.1358G>C (p.Arg453Thr)
c.2396G>C (p.Arg799Thr)
c.1550G>C (p.Arg517Thr)
c.1505G>C (p.Arg502Thr)
c.1337G>C (p.Arg446Thr)
c.1211G>C (p.Arg404Thr)
12g.32640334G>TCA384372341FGD4c.2102G>T (p.Arg701Met)
c.2357G>T (p.Arg786Met)
c.1823G>T (p.Arg608Met)
c.914G>T (p.Arg305Met)
n.900G>T
c.2513G>T (p.Arg838Met)
c.*1513G>T (n.*1513G>T)
c.1990G>T
c.2438G>T (p.Arg813Met)
c.*1471G>T (n.*1471G>T)
c.1070G>T (p.Arg357Met)
c.2594G>T (p.Arg865Met)
c.1358G>T (p.Arg453Met)
c.2396G>T (p.Arg799Met)
c.1550G>T (p.Arg517Met)
c.1505G>T (p.Arg502Met)
c.1337G>T (p.Arg446Met)
c.1211G>T (p.Arg404Met)
12g.32640335G>ACA479386512FGD4c.2103G>A (p.Arg701=)
c.2358G>A (p.Arg786=)
c.1824G>A (p.Arg608=)
c.915G>A (p.Arg305=)
n.901G>A
c.2514G>A (p.Arg838=)
c.*1514G>A (n.*1514G>A)
c.1991G>A
c.2439G>A (p.Arg813=)
c.*1472G>A (n.*1472G>A)
c.1071G>A (p.Arg357=)
c.2595G>A (p.Arg865=)
c.1359G>A (p.Arg453=)
c.2397G>A (p.Arg799=)
c.1551G>A (p.Arg517=)
c.1506G>A (p.Arg502=)
c.1338G>A (p.Arg446=)
c.1212G>A (p.Arg404=)
 gnomAD v4
12g.32640335G>CCA384372342FGD4c.2103G>C (p.Arg701Ser)
c.2358G>C (p.Arg786Ser)
c.1824G>C (p.Arg608Ser)
c.915G>C (p.Arg305Ser)
n.901G>C
c.2514G>C (p.Arg838Ser)
c.*1514G>C (n.*1514G>C)
c.1991G>C
c.2439G>C (p.Arg813Ser)
c.*1472G>C (n.*1472G>C)
c.1071G>C (p.Arg357Ser)
c.2595G>C (p.Arg865Ser)
c.1359G>C (p.Arg453Ser)
c.2397G>C (p.Arg799Ser)
c.1551G>C (p.Arg517Ser)
c.1506G>C (p.Arg502Ser)
c.1338G>C (p.Arg446Ser)
c.1212G>C (p.Arg404Ser)
 gnomAD v4
12g.32640335G>TCA384372343FGD4c.2103G>T (p.Arg701Ser)
c.2358G>T (p.Arg786Ser)
c.1824G>T (p.Arg608Ser)
c.915G>T (p.Arg305Ser)
n.901G>T
c.2514G>T (p.Arg838Ser)
c.*1514G>T (n.*1514G>T)
c.1991G>T
c.2439G>T (p.Arg813Ser)
c.*1472G>T (n.*1472G>T)
c.1071G>T (p.Arg357Ser)
c.2595G>T (p.Arg865Ser)
c.1359G>T (p.Arg453Ser)
c.2397G>T (p.Arg799Ser)
c.1551G>T (p.Arg517Ser)
c.1506G>T (p.Arg502Ser)
c.1338G>T (p.Arg446Ser)
c.1212G>T (p.Arg404Ser)
12g.32640336A>CCA384372344FGD4c.2104A>C (p.Ser702Arg)
c.2359A>C (p.Ser787Arg)
c.1825A>C (p.Ser609Arg)
c.916A>C (p.Ser306Arg)
n.902A>C
c.2515A>C (p.Ser839Arg)
c.*1515A>C (n.*1515A>C)
c.1992A>C
c.2440A>C (p.Ser814Arg)
c.*1473A>C (n.*1473A>C)
c.1072A>C (p.Ser358Arg)
c.2596A>C (p.Ser866Arg)
c.1360A>C (p.Ser454Arg)
c.2398A>C (p.Ser800Arg)
c.1552A>C (p.Ser518Arg)
c.1507A>C (p.Ser503Arg)
c.1339A>C (p.Ser447Arg)
c.1213A>C (p.Ser405Arg)
12g.32640336A>GCA384372346FGD4c.2104A>G (p.Ser702Gly)
c.2359A>G (p.Ser787Gly)
c.1825A>G (p.Ser609Gly)
c.916A>G (p.Ser306Gly)
n.902A>G
c.2515A>G (p.Ser839Gly)
c.*1515A>G (n.*1515A>G)
c.1992A>G
c.2440A>G (p.Ser814Gly)
c.*1473A>G (n.*1473A>G)
c.1072A>G (p.Ser358Gly)
c.2596A>G (p.Ser866Gly)
c.1360A>G (p.Ser454Gly)
c.2398A>G (p.Ser800Gly)
c.1552A>G (p.Ser518Gly)
c.1507A>G (p.Ser503Gly)
c.1339A>G (p.Ser447Gly)
c.1213A>G (p.Ser405Gly)
12g.32640336A>TCA384372345FGD4c.2104A>T (p.Ser702Cys)
c.2359A>T (p.Ser787Cys)
c.1825A>T (p.Ser609Cys)
c.916A>T (p.Ser306Cys)
n.902A>T
c.2515A>T (p.Ser839Cys)
c.*1515A>T (n.*1515A>T)
c.1992A>T
c.2440A>T (p.Ser814Cys)
c.*1473A>T (n.*1473A>T)
c.1072A>T (p.Ser358Cys)
c.2596A>T (p.Ser866Cys)
c.1360A>T (p.Ser454Cys)
c.2398A>T (p.Ser800Cys)
c.1552A>T (p.Ser518Cys)
c.1507A>T (p.Ser503Cys)
c.1339A>T (p.Ser447Cys)
c.1213A>T (p.Ser405Cys)
12g.32640337G>ACA384372347FGD4c.2105G>A (p.Ser702Asn)
c.2360G>A (p.Ser787Asn)
c.1826G>A (p.Ser609Asn)
c.917G>A (p.Ser306Asn)
n.903G>A
c.2516G>A (p.Ser839Asn)
c.*1516G>A (n.*1516G>A)
c.1993G>A
c.2441G>A (p.Ser814Asn)
c.*1474G>A (n.*1474G>A)
c.1073G>A (p.Ser358Asn)
c.2597G>A (p.Ser866Asn)
c.1361G>A (p.Ser454Asn)
c.2399G>A (p.Ser800Asn)
c.1553G>A (p.Ser518Asn)
c.1508G>A (p.Ser503Asn)
c.1340G>A (p.Ser447Asn)
c.1214G>A (p.Ser405Asn)
12g.32640337G>CCA384372348FGD4c.2105G>C (p.Ser702Thr)
c.2360G>C (p.Ser787Thr)
c.1826G>C (p.Ser609Thr)
c.917G>C (p.Ser306Thr)
n.903G>C
c.2516G>C (p.Ser839Thr)
c.*1516G>C (n.*1516G>C)
c.1993G>C
c.2441G>C (p.Ser814Thr)
c.*1474G>C (n.*1474G>C)
c.1073G>C (p.Ser358Thr)
c.2597G>C (p.Ser866Thr)
c.1361G>C (p.Ser454Thr)
c.2399G>C (p.Ser800Thr)
c.1553G>C (p.Ser518Thr)
c.1508G>C (p.Ser503Thr)
c.1340G>C (p.Ser447Thr)
c.1214G>C (p.Ser405Thr)
12g.32640337G>TCA384372349FGD4c.2105G>T (p.Ser702Ile)
c.2360G>T (p.Ser787Ile)
c.1826G>T (p.Ser609Ile)
c.917G>T (p.Ser306Ile)
n.903G>T
c.2516G>T (p.Ser839Ile)
c.*1516G>T (n.*1516G>T)
c.1993G>T
c.2441G>T (p.Ser814Ile)
c.*1474G>T (n.*1474G>T)
c.1073G>T (p.Ser358Ile)
c.2597G>T (p.Ser866Ile)
c.1361G>T (p.Ser454Ile)
c.2399G>T (p.Ser800Ile)
c.1553G>T (p.Ser518Ile)
c.1508G>T (p.Ser503Ile)
c.1340G>T (p.Ser447Ile)
c.1214G>T (p.Ser405Ile)
12g.32640338C>ACA384372350FGD4c.2106C>A (p.Ser702Arg)
c.2361C>A (p.Ser787Arg)
c.1827C>A (p.Ser609Arg)
c.918C>A (p.Ser306Arg)
n.904C>A
c.2517C>A (p.Ser839Arg)
c.*1517C>A (n.*1517C>A)
c.1994C>A
c.2442C>A (p.Ser814Arg)
c.*1475C>A (n.*1475C>A)
c.1074C>A (p.Ser358Arg)
c.2598C>A (p.Ser866Arg)
c.1362C>A (p.Ser454Arg)
c.2400C>A (p.Ser800Arg)
c.1554C>A (p.Ser518Arg)
c.1509C>A (p.Ser503Arg)
c.1341C>A (p.Ser447Arg)
c.1215C>A (p.Ser405Arg)
12g.32640338C=CA2026264670FGD4c.2106C= (p.Ser702=)
c.2361C= (p.Ser787=)
c.1827C= (p.Ser609=)
c.918C= (p.Ser306=)
n.904C=
c.2517C= (p.Ser839=)
c.*1517C= (n.*1517C=)
c.1994C=
c.2442C= (p.Ser814=)
c.*1475C= (n.*1475C=)
c.1074C= (p.Ser358=)
c.2598C= (p.Ser866=)
c.1362C= (p.Ser454=)
c.2400C= (p.Ser800=)
c.1554C= (p.Ser518=)
c.1509C= (p.Ser503=)
c.1341C= (p.Ser447=)
c.1215C= (p.Ser405=)
12g.32640338C>GCA384372351FGD4c.2106C>G (p.Ser702Arg)
c.2361C>G (p.Ser787Arg)
c.1827C>G (p.Ser609Arg)
c.918C>G (p.Ser306Arg)
n.904C>G
c.2517C>G (p.Ser839Arg)
c.*1517C>G (n.*1517C>G)
c.1994C>G
c.2442C>G (p.Ser814Arg)
c.*1475C>G (n.*1475C>G)
c.1074C>G (p.Ser358Arg)
c.2598C>G (p.Ser866Arg)
c.1362C>G (p.Ser454Arg)
c.2400C>G (p.Ser800Arg)
c.1554C>G (p.Ser518Arg)
c.1509C>G (p.Ser503Arg)
c.1341C>G (p.Ser447Arg)
c.1215C>G (p.Ser405Arg)
12g.32640338C>TCA6507117FGD4c.2106C>T (p.Ser702=)
c.2361C>T (p.Ser787=)
c.1827C>T (p.Ser609=)
c.918C>T (p.Ser306=)
n.904C>T
c.2517C>T (p.Ser839=)
c.*1517C>T (n.*1517C>T)
c.1994C>T
c.2442C>T (p.Ser814=)
c.*1475C>T (n.*1475C>T)
c.1074C>T (p.Ser358=)
c.2598C>T (p.Ser866=)
c.1362C>T (p.Ser454=)
c.2400C>T (p.Ser800=)
c.1554C>T (p.Ser518=)
c.1509C>T (p.Ser503=)
c.1341C>T (p.Ser447=)
c.1215C>T (p.Ser405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32640339G>ACA6507118FGD4c.2107G>A (p.Ala703Thr)
c.2362G>A (p.Ala788Thr)
c.1828G>A (p.Ala610Thr)
c.919G>A (p.Ala307Thr)
n.905G>A
c.2518G>A (p.Ala840Thr)
c.*1518G>A (n.*1518G>A)
c.1995G>A
c.2443G>A (p.Ala815Thr)
c.*1476G>A (n.*1476G>A)
c.1075G>A (p.Ala359Thr)
c.2599G>A (p.Ala867Thr)
c.1363G>A (p.Ala455Thr)
c.2401G>A (p.Ala801Thr)
c.1555G>A (p.Ala519Thr)
c.1510G>A (p.Ala504Thr)
c.1342G>A (p.Ala448Thr)
c.1216G>A (p.Ala406Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32640339G>CCA384372352FGD4c.2107G>C (p.Ala703Pro)
c.2362G>C (p.Ala788Pro)
c.1828G>C (p.Ala610Pro)
c.919G>C (p.Ala307Pro)
n.905G>C
c.2518G>C (p.Ala840Pro)
c.*1518G>C (n.*1518G>C)
c.1995G>C
c.2443G>C (p.Ala815Pro)
c.*1476G>C (n.*1476G>C)
c.1075G>C (p.Ala359Pro)
c.2599G>C (p.Ala867Pro)
c.1363G>C (p.Ala455Pro)
c.2401G>C (p.Ala801Pro)
c.1555G>C (p.Ala519Pro)
c.1510G>C (p.Ala504Pro)
c.1342G>C (p.Ala448Pro)
c.1216G>C (p.Ala406Pro)
12g.32640339G=CA2026264678FGD4c.2107G= (p.Ala703=)
c.2362G= (p.Ala788=)
c.1828G= (p.Ala610=)
c.919G= (p.Ala307=)
n.905G=
c.2518G= (p.Ala840=)
c.*1518G= (n.*1518G=)
c.1995G=
c.2443G= (p.Ala815=)
c.*1476G= (n.*1476G=)
c.1075G= (p.Ala359=)
c.2599G= (p.Ala867=)
c.1363G= (p.Ala455=)
c.2401G= (p.Ala801=)
c.1555G= (p.Ala519=)
c.1510G= (p.Ala504=)
c.1342G= (p.Ala448=)
c.1216G= (p.Ala406=)
12g.32640339G>TCA384372353FGD4c.2107G>T (p.Ala703Ser)
c.2362G>T (p.Ala788Ser)
c.1828G>T (p.Ala610Ser)
c.919G>T (p.Ala307Ser)
n.905G>T
c.2518G>T (p.Ala840Ser)
c.*1518G>T (n.*1518G>T)
c.1995G>T
c.2443G>T (p.Ala815Ser)
c.*1476G>T (n.*1476G>T)
c.1075G>T (p.Ala359Ser)
c.2599G>T (p.Ala867Ser)
c.1363G>T (p.Ala455Ser)
c.2401G>T (p.Ala801Ser)
c.1555G>T (p.Ala519Ser)
c.1510G>T (p.Ala504Ser)
c.1342G>T (p.Ala448Ser)
c.1216G>T (p.Ala406Ser)
 ClinVar dbSNP gnomAD v4
12g.32640340C>ACA384372354FGD4c.2108C>A (p.Ala703Glu)
c.2363C>A (p.Ala788Glu)
c.1829C>A (p.Ala610Glu)
c.920C>A (p.Ala307Glu)
n.906C>A
c.2519C>A (p.Ala840Glu)
c.*1519C>A (n.*1519C>A)
c.1996C>A
c.2444C>A (p.Ala815Glu)
c.*1477C>A (n.*1477C>A)
c.1076C>A (p.Ala359Glu)
c.2600C>A (p.Ala867Glu)
c.1364C>A (p.Ala455Glu)
c.2402C>A (p.Ala801Glu)
c.1556C>A (p.Ala519Glu)
c.1511C>A (p.Ala504Glu)
c.1343C>A (p.Ala448Glu)
c.1217C>A (p.Ala406Glu)
12g.32640340C=CA2026264684FGD4c.2108C= (p.Ala703=)
c.2363C= (p.Ala788=)
c.1829C= (p.Ala610=)
c.920C= (p.Ala307=)
n.906C=
c.2519C= (p.Ala840=)
c.*1519C= (n.*1519C=)
c.1996C=
c.2444C= (p.Ala815=)
c.*1477C= (n.*1477C=)
c.1076C= (p.Ala359=)
c.2600C= (p.Ala867=)
c.1364C= (p.Ala455=)
c.2402C= (p.Ala801=)
c.1556C= (p.Ala519=)
c.1511C= (p.Ala504=)
c.1343C= (p.Ala448=)
c.1217C= (p.Ala406=)
12g.32640340C>GCA384372355FGD4c.2108C>G (p.Ala703Gly)
c.2363C>G (p.Ala788Gly)
c.1829C>G (p.Ala610Gly)
c.920C>G (p.Ala307Gly)
n.906C>G
c.2519C>G (p.Ala840Gly)
c.*1519C>G (n.*1519C>G)
c.1996C>G
c.2444C>G (p.Ala815Gly)
c.*1477C>G (n.*1477C>G)
c.1076C>G (p.Ala359Gly)
c.2600C>G (p.Ala867Gly)
c.1364C>G (p.Ala455Gly)
c.2402C>G (p.Ala801Gly)
c.1556C>G (p.Ala519Gly)
c.1511C>G (p.Ala504Gly)
c.1343C>G (p.Ala448Gly)
c.1217C>G (p.Ala406Gly)
 dbSNP
12g.32640340C>TCA384372356FGD4c.2108C>T (p.Ala703Val)
c.2363C>T (p.Ala788Val)
c.1829C>T (p.Ala610Val)
c.920C>T (p.Ala307Val)
n.906C>T
c.2519C>T (p.Ala840Val)
c.*1519C>T (n.*1519C>T)
c.1996C>T
c.2444C>T (p.Ala815Val)
c.*1477C>T (n.*1477C>T)
c.1076C>T (p.Ala359Val)
c.2600C>T (p.Ala867Val)
c.1364C>T (p.Ala455Val)
c.2402C>T (p.Ala801Val)
c.1556C>T (p.Ala519Val)
c.1511C>T (p.Ala504Val)
c.1343C>T (p.Ala448Val)
c.1217C>T (p.Ala406Val)
12g.32640341A=CA2026264687FGD4c.2109A= (p.Ala703=)
c.2364A= (p.Ala788=)
c.1830A= (p.Ala610=)
c.921A= (p.Ala307=)
n.907A=
c.2520A= (p.Ala840=)
c.*1520A= (n.*1520A=)
c.1997A=
c.2445A= (p.Ala815=)
c.*1478A= (n.*1478A=)
c.1077A= (p.Ala359=)
c.2601A= (p.Ala867=)
c.1365A= (p.Ala455=)
c.2403A= (p.Ala801=)
c.1557A= (p.Ala519=)
c.1512A= (p.Ala504=)
c.1344A= (p.Ala448=)
c.1218A= (p.Ala406=)
12g.32640341A>CCA479386513FGD4c.2109A>C (p.Ala703=)
c.2364A>C (p.Ala788=)
c.1830A>C (p.Ala610=)
c.921A>C (p.Ala307=)
n.907A>C
c.2520A>C (p.Ala840=)
c.*1520A>C (n.*1520A>C)
c.1997A>C
c.2445A>C (p.Ala815=)
c.*1478A>C (n.*1478A>C)
c.1077A>C (p.Ala359=)
c.2601A>C (p.Ala867=)
c.1365A>C (p.Ala455=)
c.2403A>C (p.Ala801=)
c.1557A>C (p.Ala519=)
c.1512A>C (p.Ala504=)
c.1344A>C (p.Ala448=)
c.1218A>C (p.Ala406=)
12g.32640341A>GCA479386514FGD4c.2109A>G (p.Ala703=)
c.2364A>G (p.Ala788=)
c.1830A>G (p.Ala610=)
c.921A>G (p.Ala307=)
n.907A>G
c.2520A>G (p.Ala840=)
c.*1520A>G (n.*1520A>G)
c.1997A>G
c.2445A>G (p.Ala815=)
c.*1478A>G (n.*1478A>G)
c.1077A>G (p.Ala359=)
c.2601A>G (p.Ala867=)
c.1365A>G (p.Ala455=)
c.2403A>G (p.Ala801=)
c.1557A>G (p.Ala519=)
c.1512A>G (p.Ala504=)
c.1344A>G (p.Ala448=)
c.1218A>G (p.Ala406=)
 dbSNP gnomAD v2 gnomAD v4
12g.32640341A>TCA479386515FGD4c.2109A>T (p.Ala703=)
c.2364A>T (p.Ala788=)
c.1830A>T (p.Ala610=)
c.921A>T (p.Ala307=)
n.907A>T
c.2520A>T (p.Ala840=)
c.*1520A>T (n.*1520A>T)
c.1997A>T
c.2445A>T (p.Ala815=)
c.*1478A>T (n.*1478A>T)
c.1077A>T (p.Ala359=)
c.2601A>T (p.Ala867=)
c.1365A>T (p.Ala455=)
c.2403A>T (p.Ala801=)
c.1557A>T (p.Ala519=)
c.1512A>T (p.Ala504=)
c.1344A>T (p.Ala448=)
c.1218A>T (p.Ala406=)
12g.32640342G>ACA384372359FGD4c.2110G>A (p.Asp704Asn)
c.2365G>A (p.Asp789Asn)
c.1831G>A (p.Asp611Asn)
c.922G>A (p.Asp308Asn)
n.908G>A
c.2521G>A (p.Asp841Asn)
c.*1521G>A (n.*1521G>A)
c.1998G>A
c.2446G>A (p.Asp816Asn)
c.*1479G>A (n.*1479G>A)
c.1078G>A (p.Asp360Asn)
c.2602G>A (p.Asp868Asn)
c.1366G>A (p.Asp456Asn)
c.2404G>A (p.Asp802Asn)
c.1558G>A (p.Asp520Asn)
c.1513G>A (p.Asp505Asn)
c.1345G>A (p.Asp449Asn)
c.1219G>A (p.Asp407Asn)
12g.32640342G>CCA384372357FGD4c.2110G>C (p.Asp704His)
c.2365G>C (p.Asp789His)
c.1831G>C (p.Asp611His)
c.922G>C (p.Asp308His)
n.908G>C
c.2521G>C (p.Asp841His)
c.*1521G>C (n.*1521G>C)
c.1998G>C
c.2446G>C (p.Asp816His)
c.*1479G>C (n.*1479G>C)
c.1078G>C (p.Asp360His)
c.2602G>C (p.Asp868His)
c.1366G>C (p.Asp456His)
c.2404G>C (p.Asp802His)
c.1558G>C (p.Asp520His)
c.1513G>C (p.Asp505His)
c.1345G>C (p.Asp449His)
c.1219G>C (p.Asp407His)
12g.32640342G>TCA384372358FGD4c.2110G>T (p.Asp704Tyr)
c.2365G>T (p.Asp789Tyr)
c.1831G>T (p.Asp611Tyr)
c.922G>T (p.Asp308Tyr)
n.908G>T
c.2521G>T (p.Asp841Tyr)
c.*1521G>T (n.*1521G>T)
c.1998G>T
c.2446G>T (p.Asp816Tyr)
c.*1479G>T (n.*1479G>T)
c.1078G>T (p.Asp360Tyr)
c.2602G>T (p.Asp868Tyr)
c.1366G>T (p.Asp456Tyr)
c.2404G>T (p.Asp802Tyr)
c.1558G>T (p.Asp520Tyr)
c.1513G>T (p.Asp505Tyr)
c.1345G>T (p.Asp449Tyr)
c.1219G>T (p.Asp407Tyr)
 gnomAD v4
12g.32640343A=CA2026264688FGD4c.2111A= (p.Asp704=)
c.2366A= (p.Asp789=)
c.1832A= (p.Asp611=)
c.923A= (p.Asp308=)
n.909A=
c.2522A= (p.Asp841=)
c.*1522A= (n.*1522A=)
c.1999A=
c.2447A= (p.Asp816=)
c.*1480A= (n.*1480A=)
c.1079A= (p.Asp360=)
c.2603A= (p.Asp868=)
c.1367A= (p.Asp456=)
c.2405A= (p.Asp802=)
c.1559A= (p.Asp520=)
c.1514A= (p.Asp505=)
c.1346A= (p.Asp449=)
c.1220A= (p.Asp407=)
12g.32640343A>CCA6507119FGD4c.2111A>C (p.Asp704Ala)
c.2366A>C (p.Asp789Ala)
c.1832A>C (p.Asp611Ala)
c.923A>C (p.Asp308Ala)
n.909A>C
c.2522A>C (p.Asp841Ala)
c.*1522A>C (n.*1522A>C)
c.1999A>C
c.2447A>C (p.Asp816Ala)
c.*1480A>C (n.*1480A>C)
c.1079A>C (p.Asp360Ala)
c.2603A>C (p.Asp868Ala)
c.1367A>C (p.Asp456Ala)
c.2405A>C (p.Asp802Ala)
c.1559A>C (p.Asp520Ala)
c.1514A>C (p.Asp505Ala)
c.1346A>C (p.Asp449Ala)
c.1220A>C (p.Asp407Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.32640343A>GCA384372360FGD4c.2111A>G (p.Asp704Gly)
c.2366A>G (p.Asp789Gly)
c.1832A>G (p.Asp611Gly)
c.923A>G (p.Asp308Gly)
n.909A>G
c.2522A>G (p.Asp841Gly)
c.*1522A>G (n.*1522A>G)
c.1999A>G
c.2447A>G (p.Asp816Gly)
c.*1480A>G (n.*1480A>G)
c.1079A>G (p.Asp360Gly)
c.2603A>G (p.Asp868Gly)
c.1367A>G (p.Asp456Gly)
c.2405A>G (p.Asp802Gly)
c.1559A>G (p.Asp520Gly)
c.1514A>G (p.Asp505Gly)
c.1346A>G (p.Asp449Gly)
c.1220A>G (p.Asp407Gly)
12g.32640343A>TCA384372361FGD4c.2111A>T (p.Asp704Val)
c.2366A>T (p.Asp789Val)
c.1832A>T (p.Asp611Val)
c.923A>T (p.Asp308Val)
n.909A>T
c.2522A>T (p.Asp841Val)
c.*1522A>T (n.*1522A>T)
c.1999A>T
c.2447A>T (p.Asp816Val)
c.*1480A>T (n.*1480A>T)
c.1079A>T (p.Asp360Val)
c.2603A>T (p.Asp868Val)
c.1367A>T (p.Asp456Val)
c.2405A>T (p.Asp802Val)
c.1559A>T (p.Asp520Val)
c.1514A>T (p.Asp505Val)
c.1346A>T (p.Asp449Val)
c.1220A>T (p.Asp407Val)
12g.32640344C>ACA6507120FGD4c.2112C>A (p.Asp704Glu)
c.2367C>A (p.Asp789Glu)
c.1833C>A (p.Asp611Glu)
c.924C>A (p.Asp308Glu)
n.910C>A
c.2523C>A (p.Asp841Glu)
c.*1523C>A (n.*1523C>A)
c.2000C>A
c.2448C>A (p.Asp816Glu)
c.*1481C>A (n.*1481C>A)
c.1080C>A (p.Asp360Glu)
c.2604C>A (p.Asp868Glu)
c.1368C>A (p.Asp456Glu)
c.2406C>A (p.Asp802Glu)
c.1560C>A (p.Asp520Glu)
c.1515C>A (p.Asp505Glu)
c.1347C>A (p.Asp449Glu)
c.1221C>A (p.Asp407Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32640344C=CA2026264694FGD4c.2112C= (p.Asp704=)
c.2367C= (p.Asp789=)
c.1833C= (p.Asp611=)
c.924C= (p.Asp308=)
n.910C=
c.2523C= (p.Asp841=)
c.*1523C= (n.*1523C=)
c.2000C=
c.2448C= (p.Asp816=)
c.*1481C= (n.*1481C=)
c.1080C= (p.Asp360=)
c.2604C= (p.Asp868=)
c.1368C= (p.Asp456=)
c.2406C= (p.Asp802=)
c.1560C= (p.Asp520=)
c.1515C= (p.Asp505=)
c.1347C= (p.Asp449=)
c.1221C= (p.Asp407=)
12g.32640344C>GCA384372362FGD4c.2112C>G (p.Asp704Glu)
c.2367C>G (p.Asp789Glu)
c.1833C>G (p.Asp611Glu)
c.924C>G (p.Asp308Glu)
n.910C>G
c.2523C>G (p.Asp841Glu)
c.*1523C>G (n.*1523C>G)
c.2000C>G
c.2448C>G (p.Asp816Glu)
c.*1481C>G (n.*1481C>G)
c.1080C>G (p.Asp360Glu)
c.2604C>G (p.Asp868Glu)
c.1368C>G (p.Asp456Glu)
c.2406C>G (p.Asp802Glu)
c.1560C>G (p.Asp520Glu)
c.1515C>G (p.Asp505Glu)
c.1347C>G (p.Asp449Glu)
c.1221C>G (p.Asp407Glu)
12g.32640344C>TCA479386516FGD4c.2112C>T (p.Asp704=)
c.2367C>T (p.Asp789=)
c.1833C>T (p.Asp611=)
c.924C>T (p.Asp308=)
n.910C>T
c.2523C>T (p.Asp841=)
c.*1523C>T (n.*1523C>T)
c.2000C>T
c.2448C>T (p.Asp816=)
c.*1481C>T (n.*1481C>T)
c.1080C>T (p.Asp360=)
c.2604C>T (p.Asp868=)
c.1368C>T (p.Asp456=)
c.2406C>T (p.Asp802=)
c.1560C>T (p.Asp520=)
c.1515C>T (p.Asp505=)
c.1347C>T (p.Asp449=)
c.1221C>T (p.Asp407=)

Number of alleles fetched