Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.47848147A=CA1362750184DHX30c.2287-33A= (n.2287-33A=)
c.2203-33A= (n.2203-33A=)
c.*2187-33A= (n.*2187-33A=)
c.2371-33A= (n.2371-33A=)
n.371A=
c.2170-33A= (n.2170-33A=)
c.2191-33A= (n.2191-33A=)
c.2500-33A= (n.2500-33A=)
c.2389-33A= (n.2389-33A=)
c.2419-33A= (n.2419-33A=)
c.2176-33A= (n.2176-33A=)
3g.47848147A>CCA2370097DHX30c.2287-33A>C (n.2287-33A>C)
c.2203-33A>C (n.2203-33A>C)
c.*2187-33A>C (n.*2187-33A>C)
c.2371-33A>C (n.2371-33A>C)
n.371A>C
c.2170-33A>C (n.2170-33A>C)
c.2191-33A>C (n.2191-33A>C)
c.2500-33A>C (n.2500-33A>C)
c.2389-33A>C (n.2389-33A>C)
c.2419-33A>C (n.2419-33A>C)
c.2176-33A>C (n.2176-33A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848147A>GCA2577582597DHX30c.2287-33A>G (n.2287-33A>G)
c.2203-33A>G (n.2203-33A>G)
c.*2187-33A>G (n.*2187-33A>G)
c.2371-33A>G (n.2371-33A>G)
n.371A>G
c.2170-33A>G (n.2170-33A>G)
c.2191-33A>G (n.2191-33A>G)
c.2500-33A>G (n.2500-33A>G)
c.2389-33A>G (n.2389-33A>G)
c.2419-33A>G (n.2419-33A>G)
c.2176-33A>G (n.2176-33A>G)
3g.47848149T>CCA2577582598DHX30c.2287-31T>C (n.2287-31T>C)
c.2203-31T>C (n.2203-31T>C)
c.*2187-31T>C (n.*2187-31T>C)
c.2371-31T>C (n.2371-31T>C)
n.373T>C
c.2170-31T>C (n.2170-31T>C)
c.2191-31T>C (n.2191-31T>C)
c.2500-31T>C (n.2500-31T>C)
c.2389-31T>C (n.2389-31T>C)
c.2419-31T>C (n.2419-31T>C)
c.2176-31T>C (n.2176-31T>C)
3g.47848149T>GCA1362750186DHX30c.2287-31T>G (n.2287-31T>G)
c.2203-31T>G (n.2203-31T>G)
c.*2187-31T>G (n.*2187-31T>G)
c.2371-31T>G (n.2371-31T>G)
n.373T>G
c.2170-31T>G (n.2170-31T>G)
c.2191-31T>G (n.2191-31T>G)
c.2500-31T>G (n.2500-31T>G)
c.2389-31T>G (n.2389-31T>G)
c.2419-31T>G (n.2419-31T>G)
c.2176-31T>G (n.2176-31T>G)
 dbSNP gnomAD v4
3g.47848149T=CA1362750185DHX30c.2287-31T= (n.2287-31T=)
c.2203-31T= (n.2203-31T=)
c.*2187-31T= (n.*2187-31T=)
c.2371-31T= (n.2371-31T=)
n.373T=
c.2170-31T= (n.2170-31T=)
c.2191-31T= (n.2191-31T=)
c.2500-31T= (n.2500-31T=)
c.2389-31T= (n.2389-31T=)
c.2419-31T= (n.2419-31T=)
c.2176-31T= (n.2176-31T=)
3g.47848150T>GCA2665559724DHX30c.2287-30T>G (n.2287-30T>G)
c.2203-30T>G (n.2203-30T>G)
c.*2187-30T>G (n.*2187-30T>G)
c.2371-30T>G (n.2371-30T>G)
n.374T>G
c.2170-30T>G (n.2170-30T>G)
c.2191-30T>G (n.2191-30T>G)
c.2500-30T>G (n.2500-30T>G)
c.2389-30T>G (n.2389-30T>G)
c.2419-30T>G (n.2419-30T>G)
c.2176-30T>G (n.2176-30T>G)
 gnomAD v4
3g.47848151G=CA1362750187DHX30c.2287-29G= (n.2287-29G=)
c.2203-29G= (n.2203-29G=)
c.*2187-29G= (n.*2187-29G=)
c.2371-29G= (n.2371-29G=)
n.375G=
c.2170-29G= (n.2170-29G=)
c.2191-29G= (n.2191-29G=)
c.2500-29G= (n.2500-29G=)
c.2389-29G= (n.2389-29G=)
c.2419-29G= (n.2419-29G=)
c.2176-29G= (n.2176-29G=)
3g.47848151G>TCA73899192DHX30c.2287-29G>T (n.2287-29G>T)
c.2203-29G>T (n.2203-29G>T)
c.*2187-29G>T (n.*2187-29G>T)
c.2371-29G>T (n.2371-29G>T)
n.375G>T
c.2170-29G>T (n.2170-29G>T)
c.2191-29G>T (n.2191-29G>T)
c.2500-29G>T (n.2500-29G>T)
c.2389-29G>T (n.2389-29G>T)
c.2419-29G>T (n.2419-29G>T)
c.2176-29G>T (n.2176-29G>T)
 dbSNP
3g.47848152T>GCA2756137544DHX30c.2287-28T>G (n.2287-28T>G)
c.2203-28T>G (n.2203-28T>G)
c.*2187-28T>G (n.*2187-28T>G)
c.2371-28T>G (n.2371-28T>G)
n.376T>G
c.2170-28T>G (n.2170-28T>G)
c.2191-28T>G (n.2191-28T>G)
c.2500-28T>G (n.2500-28T>G)
c.2389-28T>G (n.2389-28T>G)
c.2419-28T>G (n.2419-28T>G)
c.2176-28T>G (n.2176-28T>G)
3g.47848153G>ACA73899195DHX30c.2287-27G>A (n.2287-27G>A)
c.2203-27G>A (n.2203-27G>A)
c.*2187-27G>A (n.*2187-27G>A)
c.2371-27G>A (n.2371-27G>A)
n.377G>A
c.2170-27G>A (n.2170-27G>A)
c.2191-27G>A (n.2191-27G>A)
c.2500-27G>A (n.2500-27G>A)
c.2389-27G>A (n.2389-27G>A)
c.2419-27G>A (n.2419-27G>A)
c.2176-27G>A (n.2176-27G>A)
 dbSNP
3g.47848153G=CA1362750188DHX30c.2287-27G= (n.2287-27G=)
c.2203-27G= (n.2203-27G=)
c.*2187-27G= (n.*2187-27G=)
c.2371-27G= (n.2371-27G=)
n.377G=
c.2170-27G= (n.2170-27G=)
c.2191-27G= (n.2191-27G=)
c.2500-27G= (n.2500-27G=)
c.2389-27G= (n.2389-27G=)
c.2419-27G= (n.2419-27G=)
c.2176-27G= (n.2176-27G=)
3g.47848158_47848160delCA2665559725DHX30c.2287-22_2287-20del (n.2287-22_2287-20del)
c.2203-22_2203-20del (n.2203-22_2203-20del)
c.*2187-22_*2187-20del (n.*2187-22_*2187-20del)
c.2371-22_2371-20del (n.2371-22_2371-20del)
n.382_384del
c.2170-22_2170-20del (n.2170-22_2170-20del)
c.2191-22_2191-20del (n.2191-22_2191-20del)
c.2500-22_2500-20del (n.2500-22_2500-20del)
c.2389-22_2389-20del (n.2389-22_2389-20del)
c.2419-22_2419-20del (n.2419-22_2419-20del)
c.2176-22_2176-20del (n.2176-22_2176-20del)
 dbSNP gnomAD v4
3g.47848155G>ACA2841435338DHX30c.2287-25G>A (n.2287-25G>A)
c.2203-25G>A (n.2203-25G>A)
c.*2187-25G>A (n.*2187-25G>A)
c.2371-25G>A (n.2371-25G>A)
n.379G>A
c.2170-25G>A (n.2170-25G>A)
c.2191-25G>A (n.2191-25G>A)
c.2500-25G>A (n.2500-25G>A)
c.2389-25G>A (n.2389-25G>A)
c.2419-25G>A (n.2419-25G>A)
c.2176-25G>A (n.2176-25G>A)
3g.47848155G>CCA2370098DHX30c.2287-25G>C (n.2287-25G>C)
c.2203-25G>C (n.2203-25G>C)
c.*2187-25G>C (n.*2187-25G>C)
c.2371-25G>C (n.2371-25G>C)
n.379G>C
c.2170-25G>C (n.2170-25G>C)
c.2191-25G>C (n.2191-25G>C)
c.2500-25G>C (n.2500-25G>C)
c.2389-25G>C (n.2389-25G>C)
c.2419-25G>C (n.2419-25G>C)
c.2176-25G>C (n.2176-25G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848155G=CA1362750189DHX30c.2287-25G= (n.2287-25G=)
c.2203-25G= (n.2203-25G=)
c.*2187-25G= (n.*2187-25G=)
c.2371-25G= (n.2371-25G=)
n.379G=
c.2170-25G= (n.2170-25G=)
c.2191-25G= (n.2191-25G=)
c.2500-25G= (n.2500-25G=)
c.2389-25G= (n.2389-25G=)
c.2419-25G= (n.2419-25G=)
c.2176-25G= (n.2176-25G=)
3g.47848155G>TCA2841435337DHX30c.2287-25G>T (n.2287-25G>T)
c.2203-25G>T (n.2203-25G>T)
c.*2187-25G>T (n.*2187-25G>T)
c.2371-25G>T (n.2371-25G>T)
n.379G>T
c.2170-25G>T (n.2170-25G>T)
c.2191-25G>T (n.2191-25G>T)
c.2500-25G>T (n.2500-25G>T)
c.2389-25G>T (n.2389-25G>T)
c.2419-25G>T (n.2419-25G>T)
c.2176-25G>T (n.2176-25G>T)
3g.47848156C=CA1362750190DHX30c.2287-24C= (n.2287-24C=)
c.2203-24C= (n.2203-24C=)
c.*2187-24C= (n.*2187-24C=)
c.2371-24C= (n.2371-24C=)
n.380C=
c.2170-24C= (n.2170-24C=)
c.2191-24C= (n.2191-24C=)
c.2500-24C= (n.2500-24C=)
c.2389-24C= (n.2389-24C=)
c.2419-24C= (n.2419-24C=)
c.2176-24C= (n.2176-24C=)
3g.47848156C>GCA2665559726DHX30c.2287-24C>G (n.2287-24C>G)
c.2203-24C>G (n.2203-24C>G)
c.*2187-24C>G (n.*2187-24C>G)
c.2371-24C>G (n.2371-24C>G)
n.380C>G
c.2170-24C>G (n.2170-24C>G)
c.2191-24C>G (n.2191-24C>G)
c.2500-24C>G (n.2500-24C>G)
c.2389-24C>G (n.2389-24C>G)
c.2419-24C>G (n.2419-24C>G)
c.2176-24C>G (n.2176-24C>G)
 gnomAD v4
3g.47848156C>TCA2370099DHX30c.2287-24C>T (n.2287-24C>T)
c.2203-24C>T (n.2203-24C>T)
c.*2187-24C>T (n.*2187-24C>T)
c.2371-24C>T (n.2371-24C>T)
n.380C>T
c.2170-24C>T (n.2170-24C>T)
c.2191-24C>T (n.2191-24C>T)
c.2500-24C>T (n.2500-24C>T)
c.2389-24C>T (n.2389-24C>T)
c.2419-24C>T (n.2419-24C>T)
c.2176-24C>T (n.2176-24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848157T>CCA2740411585DHX30c.2287-23T>C (n.2287-23T>C)
c.2203-23T>C (n.2203-23T>C)
c.*2187-23T>C (n.*2187-23T>C)
c.2371-23T>C (n.2371-23T>C)
n.381T>C
c.2170-23T>C (n.2170-23T>C)
c.2191-23T>C (n.2191-23T>C)
c.2500-23T>C (n.2500-23T>C)
c.2389-23T>C (n.2389-23T>C)
c.2419-23T>C (n.2419-23T>C)
c.2176-23T>C (n.2176-23T>C)
3g.47848158G>ACA2841435339DHX30c.2287-22G>A (n.2287-22G>A)
c.2203-22G>A (n.2203-22G>A)
c.*2187-22G>A (n.*2187-22G>A)
c.2371-22G>A (n.2371-22G>A)
n.382G>A
c.2170-22G>A (n.2170-22G>A)
c.2191-22G>A (n.2191-22G>A)
c.2500-22G>A (n.2500-22G>A)
c.2389-22G>A (n.2389-22G>A)
c.2419-22G>A (n.2419-22G>A)
c.2176-22G>A (n.2176-22G>A)
3g.47848158G>TCA2838514817DHX30c.2287-22G>T (n.2287-22G>T)
c.2203-22G>T (n.2203-22G>T)
c.*2187-22G>T (n.*2187-22G>T)
c.2371-22G>T (n.2371-22G>T)
n.382G>T
c.2170-22G>T (n.2170-22G>T)
c.2191-22G>T (n.2191-22G>T)
c.2500-22G>T (n.2500-22G>T)
c.2389-22G>T (n.2389-22G>T)
c.2419-22G>T (n.2419-22G>T)
c.2176-22G>T (n.2176-22G>T)
3g.47848160T>CCA2838514818DHX30c.2287-20T>C (n.2287-20T>C)
c.2203-20T>C (n.2203-20T>C)
c.*2187-20T>C (n.*2187-20T>C)
c.2371-20T>C (n.2371-20T>C)
n.384T>C
c.2170-20T>C (n.2170-20T>C)
c.2191-20T>C (n.2191-20T>C)
c.2500-20T>C (n.2500-20T>C)
c.2389-20T>C (n.2389-20T>C)
c.2419-20T>C (n.2419-20T>C)
c.2176-20T>C (n.2176-20T>C)
3g.47848161T>CCA2841435340DHX30c.2287-19T>C (n.2287-19T>C)
c.2203-19T>C (n.2203-19T>C)
c.*2187-19T>C (n.*2187-19T>C)
c.2371-19T>C (n.2371-19T>C)
n.385T>C
c.2170-19T>C (n.2170-19T>C)
c.2191-19T>C (n.2191-19T>C)
c.2500-19T>C (n.2500-19T>C)
c.2389-19T>C (n.2389-19T>C)
c.2419-19T>C (n.2419-19T>C)
c.2176-19T>C (n.2176-19T>C)
3g.47848162A>GCA2577582599DHX30c.2287-18A>G (n.2287-18A>G)
c.2203-18A>G (n.2203-18A>G)
c.*2187-18A>G (n.*2187-18A>G)
c.2371-18A>G (n.2371-18A>G)
n.386A>G
c.2170-18A>G (n.2170-18A>G)
c.2191-18A>G (n.2191-18A>G)
c.2500-18A>G (n.2500-18A>G)
c.2389-18A>G (n.2389-18A>G)
c.2419-18A>G (n.2419-18A>G)
c.2176-18A>G (n.2176-18A>G)
3g.47848163C=CA1362750191DHX30c.2287-17C= (n.2287-17C=)
c.2203-17C= (n.2203-17C=)
c.*2187-17C= (n.*2187-17C=)
c.2371-17C= (n.2371-17C=)
n.387C=
c.2170-17C= (n.2170-17C=)
c.2191-17C= (n.2191-17C=)
c.2500-17C= (n.2500-17C=)
c.2389-17C= (n.2389-17C=)
c.2419-17C= (n.2419-17C=)
c.2176-17C= (n.2176-17C=)
3g.47848163C>TCA2370100DHX30c.2287-17C>T (n.2287-17C>T)
c.2203-17C>T (n.2203-17C>T)
c.*2187-17C>T (n.*2187-17C>T)
c.2371-17C>T (n.2371-17C>T)
n.387C>T
c.2170-17C>T (n.2170-17C>T)
c.2191-17C>T (n.2191-17C>T)
c.2500-17C>T (n.2500-17C>T)
c.2389-17C>T (n.2389-17C>T)
c.2419-17C>T (n.2419-17C>T)
c.2176-17C>T (n.2176-17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848164T>ACA2841435341DHX30c.2287-16T>A (n.2287-16T>A)
c.2203-16T>A (n.2203-16T>A)
c.*2187-16T>A (n.*2187-16T>A)
c.2371-16T>A (n.2371-16T>A)
n.388T>A
c.2170-16T>A (n.2170-16T>A)
c.2191-16T>A (n.2191-16T>A)
c.2500-16T>A (n.2500-16T>A)
c.2389-16T>A (n.2389-16T>A)
c.2419-16T>A (n.2419-16T>A)
c.2176-16T>A (n.2176-16T>A)
3g.47848164T>CCA73899212DHX30c.2287-16T>C (n.2287-16T>C)
c.2203-16T>C (n.2203-16T>C)
c.*2187-16T>C (n.*2187-16T>C)
c.2371-16T>C (n.2371-16T>C)
n.388T>C
c.2170-16T>C (n.2170-16T>C)
c.2191-16T>C (n.2191-16T>C)
c.2500-16T>C (n.2500-16T>C)
c.2389-16T>C (n.2389-16T>C)
c.2419-16T>C (n.2419-16T>C)
c.2176-16T>C (n.2176-16T>C)
 dbSNP gnomAD v4
3g.47848164T>GCA2665559727DHX30c.2287-16T>G (n.2287-16T>G)
c.2203-16T>G (n.2203-16T>G)
c.*2187-16T>G (n.*2187-16T>G)
c.2371-16T>G (n.2371-16T>G)
n.388T>G
c.2170-16T>G (n.2170-16T>G)
c.2191-16T>G (n.2191-16T>G)
c.2500-16T>G (n.2500-16T>G)
c.2389-16T>G (n.2389-16T>G)
c.2419-16T>G (n.2419-16T>G)
c.2176-16T>G (n.2176-16T>G)
 gnomAD v4
3g.47848164T=CA1362750192DHX30c.2287-16T= (n.2287-16T=)
c.2203-16T= (n.2203-16T=)
c.*2187-16T= (n.*2187-16T=)
c.2371-16T= (n.2371-16T=)
n.388T=
c.2170-16T= (n.2170-16T=)
c.2191-16T= (n.2191-16T=)
c.2500-16T= (n.2500-16T=)
c.2389-16T= (n.2389-16T=)
c.2419-16T= (n.2419-16T=)
c.2176-16T= (n.2176-16T=)
3g.47848165T>CCA2841435342DHX30c.2287-15T>C (n.2287-15T>C)
c.2203-15T>C (n.2203-15T>C)
c.*2187-15T>C (n.*2187-15T>C)
c.2371-15T>C (n.2371-15T>C)
n.389T>C
c.2170-15T>C (n.2170-15T>C)
c.2191-15T>C (n.2191-15T>C)
c.2500-15T>C (n.2500-15T>C)
c.2389-15T>C (n.2389-15T>C)
c.2419-15T>C (n.2419-15T>C)
c.2176-15T>C (n.2176-15T>C)
3g.47848165T>GCA2665559728DHX30c.2287-15T>G (n.2287-15T>G)
c.2203-15T>G (n.2203-15T>G)
c.*2187-15T>G (n.*2187-15T>G)
c.2371-15T>G (n.2371-15T>G)
n.389T>G
c.2170-15T>G (n.2170-15T>G)
c.2191-15T>G (n.2191-15T>G)
c.2500-15T>G (n.2500-15T>G)
c.2389-15T>G (n.2389-15T>G)
c.2419-15T>G (n.2419-15T>G)
c.2176-15T>G (n.2176-15T>G)
 gnomAD v4
3g.47848166delCA2841435343DHX30c.2287-14del (n.2287-14del)
c.2203-14del (n.2203-14del)
c.*2187-14del (n.*2187-14del)
c.2371-14del (n.2371-14del)
n.390del
c.2170-14del (n.2170-14del)
c.2191-14del (n.2191-14del)
c.2500-14del (n.2500-14del)
c.2389-14del (n.2389-14del)
c.2419-14del (n.2419-14del)
c.2176-14del (n.2176-14del)
3g.47848166G>ACA543043932DHX30c.2287-14G>A (n.2287-14G>A)
c.2203-14G>A (n.2203-14G>A)
c.*2187-14G>A (n.*2187-14G>A)
c.2371-14G>A (n.2371-14G>A)
n.390G>A
c.2170-14G>A (n.2170-14G>A)
c.2191-14G>A (n.2191-14G>A)
c.2500-14G>A (n.2500-14G>A)
c.2389-14G>A (n.2389-14G>A)
c.2419-14G>A (n.2419-14G>A)
c.2176-14G>A (n.2176-14G>A)
 dbSNP gnomAD v2
3g.47848166G>CCA2665559729DHX30c.2287-14G>C (n.2287-14G>C)
c.2203-14G>C (n.2203-14G>C)
c.*2187-14G>C (n.*2187-14G>C)
c.2371-14G>C (n.2371-14G>C)
n.390G>C
c.2170-14G>C (n.2170-14G>C)
c.2191-14G>C (n.2191-14G>C)
c.2500-14G>C (n.2500-14G>C)
c.2389-14G>C (n.2389-14G>C)
c.2419-14G>C (n.2419-14G>C)
c.2176-14G>C (n.2176-14G>C)
 gnomAD v4
3g.47848166G=CA1362750193DHX30c.2287-14G= (n.2287-14G=)
c.2203-14G= (n.2203-14G=)
c.*2187-14G= (n.*2187-14G=)
c.2371-14G= (n.2371-14G=)
n.390G=
c.2170-14G= (n.2170-14G=)
c.2191-14G= (n.2191-14G=)
c.2500-14G= (n.2500-14G=)
c.2389-14G= (n.2389-14G=)
c.2419-14G= (n.2419-14G=)
c.2176-14G= (n.2176-14G=)
3g.47848166G>TCA2756137545DHX30c.2287-14G>T (n.2287-14G>T)
c.2203-14G>T (n.2203-14G>T)
c.*2187-14G>T (n.*2187-14G>T)
c.2371-14G>T (n.2371-14G>T)
n.390G>T
c.2170-14G>T (n.2170-14G>T)
c.2191-14G>T (n.2191-14G>T)
c.2500-14G>T (n.2500-14G>T)
c.2389-14G>T (n.2389-14G>T)
c.2419-14G>T (n.2419-14G>T)
c.2176-14G>T (n.2176-14G>T)
3g.47848167C=CA1362750194DHX30c.2287-13C= (n.2287-13C=)
c.2203-13C= (n.2203-13C=)
c.*2187-13C= (n.*2187-13C=)
c.2371-13C= (n.2371-13C=)
n.391C=
c.2170-13C= (n.2170-13C=)
c.2191-13C= (n.2191-13C=)
c.2500-13C= (n.2500-13C=)
c.2389-13C= (n.2389-13C=)
c.2419-13C= (n.2419-13C=)
c.2176-13C= (n.2176-13C=)
3g.47848167C>TCA1362750195DHX30c.2287-13C>T (n.2287-13C>T)
c.2203-13C>T (n.2203-13C>T)
c.*2187-13C>T (n.*2187-13C>T)
c.2371-13C>T (n.2371-13C>T)
n.391C>T
c.2170-13C>T (n.2170-13C>T)
c.2191-13C>T (n.2191-13C>T)
c.2500-13C>T (n.2500-13C>T)
c.2389-13C>T (n.2389-13C>T)
c.2419-13C>T (n.2419-13C>T)
c.2176-13C>T (n.2176-13C>T)
 dbSNP
3g.47848168C=CA1362750196DHX30c.2287-12C= (n.2287-12C=)
c.2203-12C= (n.2203-12C=)
c.*2187-12C= (n.*2187-12C=)
c.2371-12C= (n.2371-12C=)
n.392C=
c.2170-12C= (n.2170-12C=)
c.2191-12C= (n.2191-12C=)
c.2500-12C= (n.2500-12C=)
c.2389-12C= (n.2389-12C=)
c.2419-12C= (n.2419-12C=)
c.2176-12C= (n.2176-12C=)
3g.47848168C>TCA543043933DHX30c.2287-12C>T (n.2287-12C>T)
c.2203-12C>T (n.2203-12C>T)
c.*2187-12C>T (n.*2187-12C>T)
c.2371-12C>T (n.2371-12C>T)
n.392C>T
c.2170-12C>T (n.2170-12C>T)
c.2191-12C>T (n.2191-12C>T)
c.2500-12C>T (n.2500-12C>T)
c.2389-12C>T (n.2389-12C>T)
c.2419-12C>T (n.2419-12C>T)
c.2176-12C>T (n.2176-12C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.47848169A=CA1362750198DHX30c.2287-11A= (n.2287-11A=)
c.2203-11A= (n.2203-11A=)
c.*2187-11A= (n.*2187-11A=)
c.2371-11A= (n.2371-11A=)
n.393A=
c.2170-11A= (n.2170-11A=)
c.2191-11A= (n.2191-11A=)
c.2500-11A= (n.2500-11A=)
c.2389-11A= (n.2389-11A=)
c.2419-11A= (n.2419-11A=)
c.2176-11A= (n.2176-11A=)
3g.47848169A>CCA1362750199DHX30c.2287-11A>C (n.2287-11A>C)
c.2203-11A>C (n.2203-11A>C)
c.*2187-11A>C (n.*2187-11A>C)
c.2371-11A>C (n.2371-11A>C)
n.393A>C
c.2170-11A>C (n.2170-11A>C)
c.2191-11A>C (n.2191-11A>C)
c.2500-11A>C (n.2500-11A>C)
c.2389-11A>C (n.2389-11A>C)
c.2419-11A>C (n.2419-11A>C)
c.2176-11A>C (n.2176-11A>C)
 dbSNP
3g.47848169A>GCA907717295DHX30c.2287-11A>G (n.2287-11A>G)
c.2203-11A>G (n.2203-11A>G)
c.*2187-11A>G (n.*2187-11A>G)
c.2371-11A>G (n.2371-11A>G)
n.393A>G
c.2170-11A>G (n.2170-11A>G)
c.2191-11A>G (n.2191-11A>G)
c.2500-11A>G (n.2500-11A>G)
c.2389-11A>G (n.2389-11A>G)
c.2419-11A>G (n.2419-11A>G)
c.2176-11A>G (n.2176-11A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.47848169_47848172delinsACCTCA1362750197DHX30c.2287-11_2287-8delinsACCT (n.2287-11_2287-8delinsACCT)
c.2203-11_2203-8delinsACCT (n.2203-11_2203-8delinsACCT)
c.*2187-11_*2187-8delinsACCT (n.*2187-11_*2187-8delinsACCT)
c.2371-11_2371-8delinsACCT (n.2371-11_2371-8delinsACCT)
n.393_396delinsACCT
c.2170-11_2170-8delinsACCT (n.2170-11_2170-8delinsACCT)
c.2191-11_2191-8delinsACCT (n.2191-11_2191-8delinsACCT)
c.2500-11_2500-8delinsACCT (n.2500-11_2500-8delinsACCT)
c.2389-11_2389-8delinsACCT (n.2389-11_2389-8delinsACCT)
c.2419-11_2419-8delinsACCT (n.2419-11_2419-8delinsACCT)
c.2176-11_2176-8delinsACCT (n.2176-11_2176-8delinsACCT)
3g.47848170C=CA1362750200DHX30c.2287-10C= (n.2287-10C=)
c.2203-10C= (n.2203-10C=)
c.*2187-10C= (n.*2187-10C=)
c.2371-10C= (n.2371-10C=)
n.394C=
c.2170-10C= (n.2170-10C=)
c.2191-10C= (n.2191-10C=)
c.2500-10C= (n.2500-10C=)
c.2389-10C= (n.2389-10C=)
c.2419-10C= (n.2419-10C=)
c.2176-10C= (n.2176-10C=)
3g.47848170C>TCA2370101DHX30c.2287-10C>T (n.2287-10C>T)
c.2203-10C>T (n.2203-10C>T)
c.*2187-10C>T (n.*2187-10C>T)
c.2371-10C>T (n.2371-10C>T)
n.394C>T
c.2170-10C>T (n.2170-10C>T)
c.2191-10C>T (n.2191-10C>T)
c.2500-10C>T (n.2500-10C>T)
c.2389-10C>T (n.2389-10C>T)
c.2419-10C>T (n.2419-10C>T)
c.2176-10C>T (n.2176-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848175_47848177delCA543043934DHX30c.2287-5_2287-3del (n.2287-5_2287-3del)
c.2203-5_2203-3del (n.2203-5_2203-3del)
c.*2187-5_*2187-3del (n.*2187-5_*2187-3del)
c.2371-5_2371-3del (n.2371-5_2371-3del)
n.399_401del
c.2170-5_2170-3del (n.2170-5_2170-3del)
c.2191-5_2191-3del (n.2191-5_2191-3del)
c.2500-5_2500-3del (n.2500-5_2500-3del)
c.2389-5_2389-3del (n.2389-5_2389-3del)
c.2419-5_2419-3del (n.2419-5_2419-3del)
c.2176-5_2176-3del (n.2176-5_2176-3del)
 dbSNP gnomAD v2 gnomAD v4
3g.47848171C>GCA2665559730DHX30c.2287-9C>G (n.2287-9C>G)
c.2203-9C>G (n.2203-9C>G)
c.*2187-9C>G (n.*2187-9C>G)
c.2371-9C>G (n.2371-9C>G)
n.395C>G
c.2170-9C>G (n.2170-9C>G)
c.2191-9C>G (n.2191-9C>G)
c.2500-9C>G (n.2500-9C>G)
c.2389-9C>G (n.2389-9C>G)
c.2419-9C>G (n.2419-9C>G)
c.2176-9C>G (n.2176-9C>G)
 gnomAD v4
3g.47848172T>ACA907717304DHX30c.2287-8T>A (n.2287-8T>A)
c.2203-8T>A (n.2203-8T>A)
c.*2187-8T>A (n.*2187-8T>A)
c.2371-8T>A (n.2371-8T>A)
n.396T>A
c.2170-8T>A (n.2170-8T>A)
c.2191-8T>A (n.2191-8T>A)
c.2500-8T>A (n.2500-8T>A)
c.2389-8T>A (n.2389-8T>A)
c.2419-8T>A (n.2419-8T>A)
c.2176-8T>A (n.2176-8T>A)
 dbSNP gnomAD v3 gnomAD v4
3g.47848172T=CA1362750201DHX30c.2287-8T= (n.2287-8T=)
c.2203-8T= (n.2203-8T=)
c.*2187-8T= (n.*2187-8T=)
c.2371-8T= (n.2371-8T=)
n.396T=
c.2170-8T= (n.2170-8T=)
c.2191-8T= (n.2191-8T=)
c.2500-8T= (n.2500-8T=)
c.2389-8T= (n.2389-8T=)
c.2419-8T= (n.2419-8T=)
c.2176-8T= (n.2176-8T=)
3g.47848173C>ACA1362750203DHX30c.2287-7C>A (n.2287-7C>A)
c.2203-7C>A (n.2203-7C>A)
c.*2187-7C>A (n.*2187-7C>A)
c.2371-7C>A (n.2371-7C>A)
n.397C>A
c.2170-7C>A (n.2170-7C>A)
c.2191-7C>A (n.2191-7C>A)
c.2500-7C>A (n.2500-7C>A)
c.2389-7C>A (n.2389-7C>A)
c.2419-7C>A (n.2419-7C>A)
c.2176-7C>A (n.2176-7C>A)
 dbSNP
3g.47848173C=CA1362750202DHX30c.2287-7C= (n.2287-7C=)
c.2203-7C= (n.2203-7C=)
c.*2187-7C= (n.*2187-7C=)
c.2371-7C= (n.2371-7C=)
n.397C=
c.2170-7C= (n.2170-7C=)
c.2191-7C= (n.2191-7C=)
c.2500-7C= (n.2500-7C=)
c.2389-7C= (n.2389-7C=)
c.2419-7C= (n.2419-7C=)
c.2176-7C= (n.2176-7C=)
3g.47848173C>TCA907717305DHX30c.2287-7C>T (n.2287-7C>T)
c.2203-7C>T (n.2203-7C>T)
c.*2187-7C>T (n.*2187-7C>T)
c.2371-7C>T (n.2371-7C>T)
n.397C>T
c.2170-7C>T (n.2170-7C>T)
c.2191-7C>T (n.2191-7C>T)
c.2500-7C>T (n.2500-7C>T)
c.2389-7C>T (n.2389-7C>T)
c.2419-7C>T (n.2419-7C>T)
c.2176-7C>T (n.2176-7C>T)
 dbSNP
3g.47848174C=CA1362750204DHX30c.2287-6C= (n.2287-6C=)
c.2203-6C= (n.2203-6C=)
c.*2187-6C= (n.*2187-6C=)
c.2371-6C= (n.2371-6C=)
n.398C=
c.2170-6C= (n.2170-6C=)
c.2191-6C= (n.2191-6C=)
c.2500-6C= (n.2500-6C=)
c.2389-6C= (n.2389-6C=)
c.2419-6C= (n.2419-6C=)
c.2176-6C= (n.2176-6C=)
3g.47848174C>TCA543043935DHX30c.2287-6C>T (n.2287-6C>T)
c.2203-6C>T (n.2203-6C>T)
c.*2187-6C>T (n.*2187-6C>T)
c.2371-6C>T (n.2371-6C>T)
n.398C>T
c.2170-6C>T (n.2170-6C>T)
c.2191-6C>T (n.2191-6C>T)
c.2500-6C>T (n.2500-6C>T)
c.2389-6C>T (n.2389-6C>T)
c.2419-6C>T (n.2419-6C>T)
c.2176-6C>T (n.2176-6C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.47848176C>ACA2841435344DHX30c.2287-4C>A (n.2287-4C>A)
c.2203-4C>A (n.2203-4C>A)
c.*2187-4C>A (n.*2187-4C>A)
c.2371-4C>A (n.2371-4C>A)
n.400C>A
c.2170-4C>A (n.2170-4C>A)
c.2191-4C>A (n.2191-4C>A)
c.2500-4C>A (n.2500-4C>A)
c.2389-4C>A (n.2389-4C>A)
c.2419-4C>A (n.2419-4C>A)
c.2176-4C>A (n.2176-4C>A)
3g.47848176C=CA1362750205DHX30c.2287-4C= (n.2287-4C=)
c.2203-4C= (n.2203-4C=)
c.*2187-4C= (n.*2187-4C=)
c.2371-4C= (n.2371-4C=)
n.400C=
c.2170-4C= (n.2170-4C=)
c.2191-4C= (n.2191-4C=)
c.2500-4C= (n.2500-4C=)
c.2389-4C= (n.2389-4C=)
c.2419-4C= (n.2419-4C=)
c.2176-4C= (n.2176-4C=)
3g.47848176C>GCA73899220DHX30c.2287-4C>G (n.2287-4C>G)
c.2203-4C>G (n.2203-4C>G)
c.*2187-4C>G (n.*2187-4C>G)
c.2371-4C>G (n.2371-4C>G)
n.400C>G
c.2170-4C>G (n.2170-4C>G)
c.2191-4C>G (n.2191-4C>G)
c.2500-4C>G (n.2500-4C>G)
c.2389-4C>G (n.2389-4C>G)
c.2419-4C>G (n.2419-4C>G)
c.2176-4C>G (n.2176-4C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47848176C>TCA543043936DHX30c.2287-4C>T (n.2287-4C>T)
c.2203-4C>T (n.2203-4C>T)
c.*2187-4C>T (n.*2187-4C>T)
c.2371-4C>T (n.2371-4C>T)
n.400C>T
c.2170-4C>T (n.2170-4C>T)
c.2191-4C>T (n.2191-4C>T)
c.2500-4C>T (n.2500-4C>T)
c.2389-4C>T (n.2389-4C>T)
c.2419-4C>T (n.2419-4C>T)
c.2176-4C>T (n.2176-4C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47848177C>ACA2841435345DHX30c.2287-3C>A (n.2287-3C>A)
c.2203-3C>A (n.2203-3C>A)
c.*2187-3C>A (n.*2187-3C>A)
c.2371-3C>A (n.2371-3C>A)
n.401C>A
c.2170-3C>A (n.2170-3C>A)
c.2191-3C>A (n.2191-3C>A)
c.2500-3C>A (n.2500-3C>A)
c.2389-3C>A (n.2389-3C>A)
c.2419-3C>A (n.2419-3C>A)
c.2176-3C>A (n.2176-3C>A)
3g.47848178A>CCA352590080DHX30c.2287-2A>C (n.2287-2A>C)
c.2203-2A>C (n.2203-2A>C)
c.*2187-2A>C (n.*2187-2A>C)
c.2371-2A>C (n.2371-2A>C)
n.402A>C
c.2170-2A>C (n.2170-2A>C)
c.2191-2A>C (n.2191-2A>C)
c.2500-2A>C (n.2500-2A>C)
c.2389-2A>C (n.2389-2A>C)
c.2419-2A>C (n.2419-2A>C)
c.2176-2A>C (n.2176-2A>C)
3g.47848178A>GCA352590081DHX30c.2287-2A>G (n.2287-2A>G)
c.2203-2A>G (n.2203-2A>G)
c.*2187-2A>G (n.*2187-2A>G)
c.2371-2A>G (n.2371-2A>G)
n.402A>G
c.2170-2A>G (n.2170-2A>G)
c.2191-2A>G (n.2191-2A>G)
c.2500-2A>G (n.2500-2A>G)
c.2389-2A>G (n.2389-2A>G)
c.2419-2A>G (n.2419-2A>G)
c.2176-2A>G (n.2176-2A>G)
3g.47848178A>TCA352590078DHX30c.2287-2A>T (n.2287-2A>T)
c.2203-2A>T (n.2203-2A>T)
c.*2187-2A>T (n.*2187-2A>T)
c.2371-2A>T (n.2371-2A>T)
n.402A>T
c.2170-2A>T (n.2170-2A>T)
c.2191-2A>T (n.2191-2A>T)
c.2500-2A>T (n.2500-2A>T)
c.2389-2A>T (n.2389-2A>T)
c.2419-2A>T (n.2419-2A>T)
c.2176-2A>T (n.2176-2A>T)
3g.47848179G>ACA352590084DHX30c.2287-1G>A (n.2287-1G>A)
c.2203-1G>A (n.2203-1G>A)
c.*2187-1G>A (n.*2187-1G>A)
c.2371-1G>A (n.2371-1G>A)
n.403G>A
c.2170-1G>A (n.2170-1G>A)
c.2191-1G>A (n.2191-1G>A)
c.2500-1G>A (n.2500-1G>A)
c.2389-1G>A (n.2389-1G>A)
c.2419-1G>A (n.2419-1G>A)
c.2176-1G>A (n.2176-1G>A)
3g.47848179G>CCA352590088DHX30c.2287-1G>C (n.2287-1G>C)
c.2203-1G>C (n.2203-1G>C)
c.*2187-1G>C (n.*2187-1G>C)
c.2371-1G>C (n.2371-1G>C)
n.403G>C
c.2170-1G>C (n.2170-1G>C)
c.2191-1G>C (n.2191-1G>C)
c.2500-1G>C (n.2500-1G>C)
c.2389-1G>C (n.2389-1G>C)
c.2419-1G>C (n.2419-1G>C)
c.2176-1G>C (n.2176-1G>C)
3g.47848179G>TCA352590086DHX30c.2287-1G>T (n.2287-1G>T)
c.2203-1G>T (n.2203-1G>T)
c.*2187-1G>T (n.*2187-1G>T)
c.2371-1G>T (n.2371-1G>T)
n.403G>T
c.2170-1G>T (n.2170-1G>T)
c.2191-1G>T (n.2191-1G>T)
c.2500-1G>T (n.2500-1G>T)
c.2389-1G>T (n.2389-1G>T)
c.2419-1G>T (n.2419-1G>T)
c.2176-1G>T (n.2176-1G>T)
3g.47848180G>ACA352590090DHX30c.2287G>A (p.Val763Met)
c.2203G>A (p.Val735Met)
c.*2187G>A (n.*2187G>A)
c.2371G>A (p.Val791Met)
n.404G>A
c.2170G>A (p.Val724Met)
c.2191G>A (p.Val731Met)
c.2500G>A (p.Val834Met)
c.2389G>A (p.Val797Met)
c.2419G>A (p.Val807Met)
c.2176G>A (p.Val726Met)
3g.47848180G>CCA352590093DHX30c.2287G>C (p.Val763Leu)
c.2203G>C (p.Val735Leu)
c.*2187G>C (n.*2187G>C)
c.2371G>C (p.Val791Leu)
n.404G>C
c.2170G>C (p.Val724Leu)
c.2191G>C (p.Val731Leu)
c.2500G>C (p.Val834Leu)
c.2389G>C (p.Val797Leu)
c.2419G>C (p.Val807Leu)
c.2176G>C (p.Val726Leu)
3g.47848180G>TCA352590091DHX30c.2287G>T (p.Val763Leu)
c.2203G>T (p.Val735Leu)
c.*2187G>T (n.*2187G>T)
c.2371G>T (p.Val791Leu)
n.404G>T
c.2170G>T (p.Val724Leu)
c.2191G>T (p.Val731Leu)
c.2500G>T (p.Val834Leu)
c.2389G>T (p.Val797Leu)
c.2419G>T (p.Val807Leu)
c.2176G>T (p.Val726Leu)
3g.47848181T>ACA352590095DHX30c.2288T>A (p.Val763Glu)
c.2204T>A (p.Val735Glu)
c.*2188T>A (n.*2188T>A)
c.2372T>A (p.Val791Glu)
n.405T>A
c.2171T>A (p.Val724Glu)
c.2192T>A (p.Val731Glu)
c.2501T>A (p.Val834Glu)
c.2390T>A (p.Val797Glu)
c.2420T>A (p.Val807Glu)
c.2177T>A (p.Val726Glu)
3g.47848181T>CCA352590097DHX30c.2288T>C (p.Val763Ala)
c.2204T>C (p.Val735Ala)
c.*2188T>C (n.*2188T>C)
c.2372T>C (p.Val791Ala)
n.405T>C
c.2171T>C (p.Val724Ala)
c.2192T>C (p.Val731Ala)
c.2501T>C (p.Val834Ala)
c.2390T>C (p.Val797Ala)
c.2420T>C (p.Val807Ala)
c.2177T>C (p.Val726Ala)
3g.47848181T>GCA352590099DHX30c.2288T>G (p.Val763Gly)
c.2204T>G (p.Val735Gly)
c.*2188T>G (n.*2188T>G)
c.2372T>G (p.Val791Gly)
n.405T>G
c.2171T>G (p.Val724Gly)
c.2192T>G (p.Val731Gly)
c.2501T>G (p.Val834Gly)
c.2390T>G (p.Val797Gly)
c.2420T>G (p.Val807Gly)
c.2177T>G (p.Val726Gly)
3g.47848181dupCA2841435346DHX30c.2288dup (p.Ser764ValfsTer?)
c.2204dup (p.Ser736ValfsTer?)
c.*2188dup (n.*2188dup)
c.2372dup (p.Ser792ValfsTer?)
n.405dup
c.2171dup (p.Ser725ValfsTer?)
c.2192dup (p.Ser732ValfsTer?)
c.2501dup (p.Ser835ValfsTer?)
c.2390dup (p.Ser798ValfsTer?)
c.2420dup (p.Ser808ValfsTer?)
c.2177dup (p.Ser727ValfsTer?)
3g.47848182G>ACA433608685DHX30c.2289G>A (p.Val763=)
c.2205G>A (p.Val735=)
c.*2189G>A (n.*2189G>A)
c.2373G>A (p.Val791=)
n.406G>A
c.2172G>A (p.Val724=)
c.2193G>A (p.Val731=)
c.2502G>A (p.Val834=)
c.2391G>A (p.Val797=)
c.2421G>A (p.Val807=)
c.2178G>A (p.Val726=)
3g.47848182G>CCA433608686DHX30c.2289G>C (p.Val763=)
c.2205G>C (p.Val735=)
c.*2189G>C (n.*2189G>C)
c.2373G>C (p.Val791=)
n.406G>C
c.2172G>C (p.Val724=)
c.2193G>C (p.Val731=)
c.2502G>C (p.Val834=)
c.2391G>C (p.Val797=)
c.2421G>C (p.Val807=)
c.2178G>C (p.Val726=)
3g.47848182G>TCA433608688DHX30c.2289G>T (p.Val763=)
c.2205G>T (p.Val735=)
c.*2189G>T (n.*2189G>T)
c.2373G>T (p.Val791=)
n.406G>T
c.2172G>T (p.Val724=)
c.2193G>T (p.Val731=)
c.2502G>T (p.Val834=)
c.2391G>T (p.Val797=)
c.2421G>T (p.Val807=)
c.2178G>T (p.Val726=)
3g.47848183T>ACA352590101DHX30c.2290T>A (p.Ser764Thr)
c.2206T>A (p.Ser736Thr)
c.*2190T>A (n.*2190T>A)
c.2374T>A (p.Ser792Thr)
n.407T>A
c.2173T>A (p.Ser725Thr)
c.2194T>A (p.Ser732Thr)
c.2503T>A (p.Ser835Thr)
c.2392T>A (p.Ser798Thr)
c.2422T>A (p.Ser808Thr)
c.2179T>A (p.Ser727Thr)
3g.47848183T>CCA352590103DHX30c.2290T>C (p.Ser764Pro)
c.2206T>C (p.Ser736Pro)
c.*2190T>C (n.*2190T>C)
c.2374T>C (p.Ser792Pro)
n.407T>C
c.2173T>C (p.Ser725Pro)
c.2194T>C (p.Ser732Pro)
c.2503T>C (p.Ser835Pro)
c.2392T>C (p.Ser798Pro)
c.2422T>C (p.Ser808Pro)
c.2179T>C (p.Ser727Pro)
3g.47848183T>GCA352590105DHX30c.2290T>G (p.Ser764Ala)
c.2206T>G (p.Ser736Ala)
c.*2190T>G (n.*2190T>G)
c.2374T>G (p.Ser792Ala)
n.407T>G
c.2173T>G (p.Ser725Ala)
c.2194T>G (p.Ser732Ala)
c.2503T>G (p.Ser835Ala)
c.2392T>G (p.Ser798Ala)
c.2422T>G (p.Ser808Ala)
c.2179T>G (p.Ser727Ala)
3g.47848184C>ACA352590108DHX30c.2291C>A (p.Ser764Tyr)
c.2207C>A (p.Ser736Tyr)
c.*2191C>A (n.*2191C>A)
c.2375C>A (p.Ser792Tyr)
n.408C>A
c.2174C>A (p.Ser725Tyr)
c.2195C>A (p.Ser732Tyr)
c.2504C>A (p.Ser835Tyr)
c.2393C>A (p.Ser798Tyr)
c.2423C>A (p.Ser808Tyr)
c.2180C>A (p.Ser727Tyr)
3g.47848184C>GCA352590109DHX30c.2291C>G (p.Ser764Cys)
c.2207C>G (p.Ser736Cys)
c.*2191C>G (n.*2191C>G)
c.2375C>G (p.Ser792Cys)
n.408C>G
c.2174C>G (p.Ser725Cys)
c.2195C>G (p.Ser732Cys)
c.2504C>G (p.Ser835Cys)
c.2393C>G (p.Ser798Cys)
c.2423C>G (p.Ser808Cys)
c.2180C>G (p.Ser727Cys)
3g.47848184C>TCA352590111DHX30c.2291C>T (p.Ser764Phe)
c.2207C>T (p.Ser736Phe)
c.*2191C>T (n.*2191C>T)
c.2375C>T (p.Ser792Phe)
n.408C>T
c.2174C>T (p.Ser725Phe)
c.2195C>T (p.Ser732Phe)
c.2504C>T (p.Ser835Phe)
c.2393C>T (p.Ser798Phe)
c.2423C>T (p.Ser808Phe)
c.2180C>T (p.Ser727Phe)
3g.47848185C>ACA2370102DHX30c.2292C>A (p.Ser764=)
c.2208C>A (p.Ser736=)
c.*2192C>A (n.*2192C>A)
c.2376C>A (p.Ser792=)
n.409C>A
c.2175C>A (p.Ser725=)
c.2196C>A (p.Ser732=)
c.2505C>A (p.Ser835=)
c.2394C>A (p.Ser798=)
c.2424C>A (p.Ser808=)
c.2181C>A (p.Ser727=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848185C=CA1362750206DHX30c.2292C= (p.Ser764=)
c.2208C= (p.Ser736=)
c.*2192C= (n.*2192C=)
c.2376C= (p.Ser792=)
n.409C=
c.2175C= (p.Ser725=)
c.2196C= (p.Ser732=)
c.2505C= (p.Ser835=)
c.2394C= (p.Ser798=)
c.2424C= (p.Ser808=)
c.2181C= (p.Ser727=)
3g.47848185C>GCA433608691DHX30c.2292C>G (p.Ser764=)
c.2208C>G (p.Ser736=)
c.*2192C>G (n.*2192C>G)
c.2376C>G (p.Ser792=)
n.409C>G
c.2175C>G (p.Ser725=)
c.2196C>G (p.Ser732=)
c.2505C>G (p.Ser835=)
c.2394C>G (p.Ser798=)
c.2424C>G (p.Ser808=)
c.2181C>G (p.Ser727=)
3g.47848185C>TCA433608692DHX30c.2292C>T (p.Ser764=)
c.2208C>T (p.Ser736=)
c.*2192C>T (n.*2192C>T)
c.2376C>T (p.Ser792=)
n.409C>T
c.2175C>T (p.Ser725=)
c.2196C>T (p.Ser732=)
c.2505C>T (p.Ser835=)
c.2394C>T (p.Ser798=)
c.2424C>T (p.Ser808=)
c.2181C>T (p.Ser727=)
3g.47848186T>ACA352590114DHX30c.2293T>A (p.Cys765Ser)
c.2209T>A (p.Cys737Ser)
c.*2193T>A (n.*2193T>A)
c.2377T>A (p.Cys793Ser)
n.410T>A
c.2176T>A (p.Cys726Ser)
c.2197T>A (p.Cys733Ser)
c.2506T>A (p.Cys836Ser)
c.2395T>A (p.Cys799Ser)
c.2425T>A (p.Cys809Ser)
c.2182T>A (p.Cys728Ser)
3g.47848186T>CCA352590116DHX30c.2293T>C (p.Cys765Arg)
c.2209T>C (p.Cys737Arg)
c.*2193T>C (n.*2193T>C)
c.2377T>C (p.Cys793Arg)
n.410T>C
c.2176T>C (p.Cys726Arg)
c.2197T>C (p.Cys733Arg)
c.2506T>C (p.Cys836Arg)
c.2395T>C (p.Cys799Arg)
c.2425T>C (p.Cys809Arg)
c.2182T>C (p.Cys728Arg)
3g.47848186T>GCA352590118DHX30c.2293T>G (p.Cys765Gly)
c.2209T>G (p.Cys737Gly)
c.*2193T>G (n.*2193T>G)
c.2377T>G (p.Cys793Gly)
n.410T>G
c.2176T>G (p.Cys726Gly)
c.2197T>G (p.Cys733Gly)
c.2506T>G (p.Cys836Gly)
c.2395T>G (p.Cys799Gly)
c.2425T>G (p.Cys809Gly)
c.2182T>G (p.Cys728Gly)
3g.47848187G>ACA352590120DHX30c.2294G>A (p.Cys765Tyr)
c.2210G>A (p.Cys737Tyr)
c.*2194G>A (n.*2194G>A)
c.2378G>A (p.Cys793Tyr)
n.411G>A
c.2177G>A (p.Cys726Tyr)
c.2198G>A (p.Cys733Tyr)
c.2507G>A (p.Cys836Tyr)
c.2396G>A (p.Cys799Tyr)
c.2426G>A (p.Cys809Tyr)
c.2183G>A (p.Cys728Tyr)
3g.47848187G>CCA352590124DHX30c.2294G>C (p.Cys765Ser)
c.2210G>C (p.Cys737Ser)
c.*2194G>C (n.*2194G>C)
c.2378G>C (p.Cys793Ser)
n.411G>C
c.2177G>C (p.Cys726Ser)
c.2198G>C (p.Cys733Ser)
c.2507G>C (p.Cys836Ser)
c.2396G>C (p.Cys799Ser)
c.2426G>C (p.Cys809Ser)
c.2183G>C (p.Cys728Ser)
3g.47848187G>TCA352590122DHX30c.2294G>T (p.Cys765Phe)
c.2210G>T (p.Cys737Phe)
c.*2194G>T (n.*2194G>T)
c.2378G>T (p.Cys793Phe)
n.411G>T
c.2177G>T (p.Cys726Phe)
c.2198G>T (p.Cys733Phe)
c.2507G>T (p.Cys836Phe)
c.2396G>T (p.Cys799Phe)
c.2426G>T (p.Cys809Phe)
c.2183G>T (p.Cys728Phe)
3g.47848188C>ACA352590126DHX30c.2295C>A (p.Cys765Ter)
c.2211C>A (p.Cys737Ter)
c.*2195C>A (n.*2195C>A)
c.2379C>A (p.Cys793Ter)
n.412C>A
c.2178C>A (p.Cys726Ter)
c.2199C>A (p.Cys733Ter)
c.2508C>A (p.Cys836Ter)
c.2397C>A (p.Cys799Ter)
c.2427C>A (p.Cys809Ter)
c.2184C>A (p.Cys728Ter)
3g.47848188C>GCA352590127DHX30c.2295C>G (p.Cys765Trp)
c.2211C>G (p.Cys737Trp)
c.*2195C>G (n.*2195C>G)
c.2379C>G (p.Cys793Trp)
n.412C>G
c.2178C>G (p.Cys726Trp)
c.2199C>G (p.Cys733Trp)
c.2508C>G (p.Cys836Trp)
c.2397C>G (p.Cys799Trp)
c.2427C>G (p.Cys809Trp)
c.2184C>G (p.Cys728Trp)
3g.47848188C>TCA433608694DHX30c.2295C>T (p.Cys765=)
c.2211C>T (p.Cys737=)
c.*2195C>T (n.*2195C>T)
c.2379C>T (p.Cys793=)
n.412C>T
c.2178C>T (p.Cys726=)
c.2199C>T (p.Cys733=)
c.2508C>T (p.Cys836=)
c.2397C>T (p.Cys799=)
c.2427C>T (p.Cys809=)
c.2184C>T (p.Cys728=)
 gnomAD v4
3g.47848189C>ACA352590129DHX30c.2296C>A (p.Leu766Met)
c.2212C>A (p.Leu738Met)
c.*2196C>A (n.*2196C>A)
c.2380C>A (p.Leu794Met)
n.413C>A
c.2179C>A (p.Leu727Met)
c.2200C>A (p.Leu734Met)
c.2509C>A (p.Leu837Met)
c.2398C>A (p.Leu800Met)
c.2428C>A (p.Leu810Met)
c.2185C>A (p.Leu729Met)
3g.47848189C>GCA352590132DHX30c.2296C>G (p.Leu766Val)
c.2212C>G (p.Leu738Val)
c.*2196C>G (n.*2196C>G)
c.2380C>G (p.Leu794Val)
n.413C>G
c.2179C>G (p.Leu727Val)
c.2200C>G (p.Leu734Val)
c.2509C>G (p.Leu837Val)
c.2398C>G (p.Leu800Val)
c.2428C>G (p.Leu810Val)
c.2185C>G (p.Leu729Val)
3g.47848189C>TCA433608695DHX30c.2296C>T (p.Leu766=)
c.2212C>T (p.Leu738=)
c.*2196C>T (n.*2196C>T)
c.2380C>T (p.Leu794=)
n.413C>T
c.2179C>T (p.Leu727=)
c.2200C>T (p.Leu734=)
c.2509C>T (p.Leu837=)
c.2398C>T (p.Leu800=)
c.2428C>T (p.Leu810=)
c.2185C>T (p.Leu729=)
 gnomAD v4
3g.47848190T>ACA352590134DHX30c.2297T>A (p.Leu766Gln)
c.2213T>A (p.Leu738Gln)
c.*2197T>A (n.*2197T>A)
c.2381T>A (p.Leu794Gln)
n.414T>A
c.2180T>A (p.Leu727Gln)
c.2201T>A (p.Leu734Gln)
c.2510T>A (p.Leu837Gln)
c.2399T>A (p.Leu800Gln)
c.2429T>A (p.Leu810Gln)
c.2186T>A (p.Leu729Gln)
3g.47848190T>CCA352590136DHX30c.2297T>C (p.Leu766Pro)
c.2213T>C (p.Leu738Pro)
c.*2197T>C (n.*2197T>C)
c.2381T>C (p.Leu794Pro)
n.414T>C
c.2180T>C (p.Leu727Pro)
c.2201T>C (p.Leu734Pro)
c.2510T>C (p.Leu837Pro)
c.2399T>C (p.Leu800Pro)
c.2429T>C (p.Leu810Pro)
c.2186T>C (p.Leu729Pro)
3g.47848190T>GCA352590138DHX30c.2297T>G (p.Leu766Arg)
c.2213T>G (p.Leu738Arg)
c.*2197T>G (n.*2197T>G)
c.2381T>G (p.Leu794Arg)
n.414T>G
c.2180T>G (p.Leu727Arg)
c.2201T>G (p.Leu734Arg)
c.2510T>G (p.Leu837Arg)
c.2399T>G (p.Leu800Arg)
c.2429T>G (p.Leu810Arg)
c.2186T>G (p.Leu729Arg)
3g.47848191G>ACA433608697DHX30c.2298G>A (p.Leu766=)
c.2214G>A (p.Leu738=)
c.*2198G>A (n.*2198G>A)
c.2382G>A (p.Leu794=)
n.415G>A
c.2181G>A (p.Leu727=)
c.2202G>A (p.Leu734=)
c.2511G>A (p.Leu837=)
c.2400G>A (p.Leu800=)
c.2430G>A (p.Leu810=)
c.2187G>A (p.Leu729=)
3g.47848191G>CCA433608698DHX30c.2298G>C (p.Leu766=)
c.2214G>C (p.Leu738=)
c.*2198G>C (n.*2198G>C)
c.2382G>C (p.Leu794=)
n.415G>C
c.2181G>C (p.Leu727=)
c.2202G>C (p.Leu734=)
c.2511G>C (p.Leu837=)
c.2400G>C (p.Leu800=)
c.2430G>C (p.Leu810=)
c.2187G>C (p.Leu729=)
3g.47848191G>TCA433608699DHX30c.2298G>T (p.Leu766=)
c.2214G>T (p.Leu738=)
c.*2198G>T (n.*2198G>T)
c.2382G>T (p.Leu794=)
n.415G>T
c.2181G>T (p.Leu727=)
c.2202G>T (p.Leu734=)
c.2511G>T (p.Leu837=)
c.2400G>T (p.Leu800=)
c.2430G>T (p.Leu810=)
c.2187G>T (p.Leu729=)
3g.47848192G>ACA352590140DHX30c.2299G>A (p.Glu767Lys)
c.2215G>A (p.Glu739Lys)
c.*2199G>A (n.*2199G>A)
c.2383G>A (p.Glu795Lys)
n.416G>A
c.2182G>A (p.Glu728Lys)
c.2203G>A (p.Glu735Lys)
c.2512G>A (p.Glu838Lys)
c.2401G>A (p.Glu801Lys)
c.2431G>A (p.Glu811Lys)
c.2188G>A (p.Glu730Lys)
3g.47848192G>CCA352590141DHX30c.2299G>C (p.Glu767Gln)
c.2215G>C (p.Glu739Gln)
c.*2199G>C (n.*2199G>C)
c.2383G>C (p.Glu795Gln)
n.416G>C
c.2182G>C (p.Glu728Gln)
c.2203G>C (p.Glu735Gln)
c.2512G>C (p.Glu838Gln)
c.2401G>C (p.Glu801Gln)
c.2431G>C (p.Glu811Gln)
c.2188G>C (p.Glu730Gln)
3g.47848192G>TCA352590143DHX30c.2299G>T (p.Glu767Ter)
c.2215G>T (p.Glu739Ter)
c.*2199G>T (n.*2199G>T)
c.2383G>T (p.Glu795Ter)
n.416G>T
c.2182G>T (p.Glu728Ter)
c.2203G>T (p.Glu735Ter)
c.2512G>T (p.Glu838Ter)
c.2401G>T (p.Glu801Ter)
c.2431G>T (p.Glu811Ter)
c.2188G>T (p.Glu730Ter)
3g.47848193A>CCA352590148DHX30c.2300A>C (p.Glu767Ala)
c.2216A>C (p.Glu739Ala)
c.*2200A>C (n.*2200A>C)
c.2384A>C (p.Glu795Ala)
n.417A>C
c.2183A>C (p.Glu728Ala)
c.2204A>C (p.Glu735Ala)
c.2513A>C (p.Glu838Ala)
c.2402A>C (p.Glu801Ala)
c.2432A>C (p.Glu811Ala)
c.2189A>C (p.Glu730Ala)
3g.47848193A>GCA352590147DHX30c.2300A>G (p.Glu767Gly)
c.2216A>G (p.Glu739Gly)
c.*2200A>G (n.*2200A>G)
c.2384A>G (p.Glu795Gly)
n.417A>G
c.2183A>G (p.Glu728Gly)
c.2204A>G (p.Glu735Gly)
c.2513A>G (p.Glu838Gly)
c.2402A>G (p.Glu801Gly)
c.2432A>G (p.Glu811Gly)
c.2189A>G (p.Glu730Gly)
3g.47848193A>TCA352590145DHX30c.2300A>T (p.Glu767Val)
c.2216A>T (p.Glu739Val)
c.*2200A>T (n.*2200A>T)
c.2384A>T (p.Glu795Val)
n.417A>T
c.2183A>T (p.Glu728Val)
c.2204A>T (p.Glu735Val)
c.2513A>T (p.Glu838Val)
c.2402A>T (p.Glu801Val)
c.2432A>T (p.Glu811Val)
c.2189A>T (p.Glu730Val)
3g.47848194G>ACA433608701DHX30c.2301G>A (p.Glu767=)
c.2217G>A (p.Glu739=)
c.*2201G>A (n.*2201G>A)
c.2385G>A (p.Glu795=)
n.418G>A
c.2184G>A (p.Glu728=)
c.2205G>A (p.Glu735=)
c.2514G>A (p.Glu838=)
c.2403G>A (p.Glu801=)
c.2433G>A (p.Glu811=)
c.2190G>A (p.Glu730=)
3g.47848194G>CCA352590152DHX30c.2301G>C (p.Glu767Asp)
c.2217G>C (p.Glu739Asp)
c.*2201G>C (n.*2201G>C)
c.2385G>C (p.Glu795Asp)
n.418G>C
c.2184G>C (p.Glu728Asp)
c.2205G>C (p.Glu735Asp)
c.2514G>C (p.Glu838Asp)
c.2403G>C (p.Glu801Asp)
c.2433G>C (p.Glu811Asp)
c.2190G>C (p.Glu730Asp)
3g.47848194G>TCA352590150DHX30c.2301G>T (p.Glu767Asp)
c.2217G>T (p.Glu739Asp)
c.*2201G>T (n.*2201G>T)
c.2385G>T (p.Glu795Asp)
n.418G>T
c.2184G>T (p.Glu728Asp)
c.2205G>T (p.Glu735Asp)
c.2514G>T (p.Glu838Asp)
c.2403G>T (p.Glu801Asp)
c.2433G>T (p.Glu811Asp)
c.2190G>T (p.Glu730Asp)
3g.47848195A>CCA352590154DHX30c.2302A>C (p.Thr768Pro)
c.2218A>C (p.Thr740Pro)
c.*2202A>C (n.*2202A>C)
c.2386A>C (p.Thr796Pro)
n.419A>C
c.2185A>C (p.Thr729Pro)
c.2206A>C (p.Thr736Pro)
c.2515A>C (p.Thr839Pro)
c.2404A>C (p.Thr802Pro)
c.2434A>C (p.Thr812Pro)
c.2191A>C (p.Thr731Pro)
3g.47848195A>GCA352590156DHX30c.2302A>G (p.Thr768Ala)
c.2218A>G (p.Thr740Ala)
c.*2202A>G (n.*2202A>G)
c.2386A>G (p.Thr796Ala)
n.419A>G
c.2185A>G (p.Thr729Ala)
c.2206A>G (p.Thr736Ala)
c.2515A>G (p.Thr839Ala)
c.2404A>G (p.Thr802Ala)
c.2434A>G (p.Thr812Ala)
c.2191A>G (p.Thr731Ala)
3g.47848195A>TCA352590158DHX30c.2302A>T (p.Thr768Ser)
c.2218A>T (p.Thr740Ser)
c.*2202A>T (n.*2202A>T)
c.2386A>T (p.Thr796Ser)
n.419A>T
c.2185A>T (p.Thr729Ser)
c.2206A>T (p.Thr736Ser)
c.2515A>T (p.Thr839Ser)
c.2404A>T (p.Thr802Ser)
c.2434A>T (p.Thr812Ser)
c.2191A>T (p.Thr731Ser)
3g.47848196C>ACA352590160DHX30c.2303C>A (p.Thr768Lys)
c.2219C>A (p.Thr740Lys)
c.*2203C>A (n.*2203C>A)
c.2387C>A (p.Thr796Lys)
n.420C>A
c.2186C>A (p.Thr729Lys)
c.2207C>A (p.Thr736Lys)
c.2516C>A (p.Thr839Lys)
c.2405C>A (p.Thr802Lys)
c.2435C>A (p.Thr812Lys)
c.2192C>A (p.Thr731Lys)
3g.47848196C>GCA352590162DHX30c.2303C>G (p.Thr768Arg)
c.2219C>G (p.Thr740Arg)
c.*2203C>G (n.*2203C>G)
c.2387C>G (p.Thr796Arg)
n.420C>G
c.2186C>G (p.Thr729Arg)
c.2207C>G (p.Thr736Arg)
c.2516C>G (p.Thr839Arg)
c.2405C>G (p.Thr802Arg)
c.2435C>G (p.Thr812Arg)
c.2192C>G (p.Thr731Arg)
3g.47848196C>TCA352590163DHX30c.2303C>T (p.Thr768Ile)
c.2219C>T (p.Thr740Ile)
c.*2203C>T (n.*2203C>T)
c.2387C>T (p.Thr796Ile)
n.420C>T
c.2186C>T (p.Thr729Ile)
c.2207C>T (p.Thr736Ile)
c.2516C>T (p.Thr839Ile)
c.2405C>T (p.Thr802Ile)
c.2435C>T (p.Thr812Ile)
c.2192C>T (p.Thr731Ile)
 gnomAD v4
3g.47848197A>CCA433608706DHX30c.2304A>C (p.Thr768=)
c.2220A>C (p.Thr740=)
c.*2204A>C (n.*2204A>C)
c.2388A>C (p.Thr796=)
n.421A>C
c.2187A>C (p.Thr729=)
c.2208A>C (p.Thr736=)
c.2517A>C (p.Thr839=)
c.2406A>C (p.Thr802=)
c.2436A>C (p.Thr812=)
c.2193A>C (p.Thr731=)
3g.47848197A>GCA433608708DHX30c.2304A>G (p.Thr768=)
c.2220A>G (p.Thr740=)
c.*2204A>G (n.*2204A>G)
c.2388A>G (p.Thr796=)
n.421A>G
c.2187A>G (p.Thr729=)
c.2208A>G (p.Thr736=)
c.2517A>G (p.Thr839=)
c.2406A>G (p.Thr802=)
c.2436A>G (p.Thr812=)
c.2193A>G (p.Thr731=)
3g.47848197A>TCA433608707DHX30c.2304A>T (p.Thr768=)
c.2220A>T (p.Thr740=)
c.*2204A>T (n.*2204A>T)
c.2388A>T (p.Thr796=)
n.421A>T
c.2187A>T (p.Thr729=)
c.2208A>T (p.Thr736=)
c.2517A>T (p.Thr839=)
c.2406A>T (p.Thr802=)
c.2436A>T (p.Thr812=)
c.2193A>T (p.Thr731=)
3g.47848198G>ACA352590165DHX30c.2305G>A (p.Val769Met)
c.2221G>A (p.Val741Met)
c.*2205G>A (n.*2205G>A)
c.2389G>A (p.Val797Met)
n.422G>A
c.2188G>A (p.Val730Met)
c.2209G>A (p.Val737Met)
c.2518G>A (p.Val840Met)
c.2407G>A (p.Val803Met)
c.2437G>A (p.Val813Met)
c.2194G>A (p.Val732Met)
3g.47848198G>CCA352590167DHX30c.2305G>C (p.Val769Leu)
c.2221G>C (p.Val741Leu)
c.*2205G>C (n.*2205G>C)
c.2389G>C (p.Val797Leu)
n.422G>C
c.2188G>C (p.Val730Leu)
c.2209G>C (p.Val737Leu)
c.2518G>C (p.Val840Leu)
c.2407G>C (p.Val803Leu)
c.2437G>C (p.Val813Leu)
c.2194G>C (p.Val732Leu)
3g.47848198G>TCA352590169DHX30c.2305G>T (p.Val769Leu)
c.2221G>T (p.Val741Leu)
c.*2205G>T (n.*2205G>T)
c.2389G>T (p.Val797Leu)
n.422G>T
c.2188G>T (p.Val730Leu)
c.2209G>T (p.Val737Leu)
c.2518G>T (p.Val840Leu)
c.2407G>T (p.Val803Leu)
c.2437G>T (p.Val813Leu)
c.2194G>T (p.Val732Leu)
 COSMIC COSMIC
3g.47848199T>ACA352590171DHX30c.2306T>A (p.Val769Glu)
c.2222T>A (p.Val741Glu)
c.*2206T>A (n.*2206T>A)
c.2390T>A (p.Val797Glu)
n.423T>A
c.2189T>A (p.Val730Glu)
c.2210T>A (p.Val737Glu)
c.2519T>A (p.Val840Glu)
c.2408T>A (p.Val803Glu)
c.2438T>A (p.Val813Glu)
c.2195T>A (p.Val732Glu)
3g.47848199T>CCA2370103DHX30c.2306T>C (p.Val769Ala)
c.2222T>C (p.Val741Ala)
c.*2206T>C (n.*2206T>C)
c.2390T>C (p.Val797Ala)
n.423T>C
c.2189T>C (p.Val730Ala)
c.2210T>C (p.Val737Ala)
c.2519T>C (p.Val840Ala)
c.2408T>C (p.Val803Ala)
c.2438T>C (p.Val813Ala)
c.2195T>C (p.Val732Ala)
 dbSNP ExAC gnomAD v4
3g.47848199T>GCA352590172DHX30c.2306T>G (p.Val769Gly)
c.2222T>G (p.Val741Gly)
c.*2206T>G (n.*2206T>G)
c.2390T>G (p.Val797Gly)
n.423T>G
c.2189T>G (p.Val730Gly)
c.2210T>G (p.Val737Gly)
c.2519T>G (p.Val840Gly)
c.2408T>G (p.Val803Gly)
c.2438T>G (p.Val813Gly)
c.2195T>G (p.Val732Gly)
3g.47848199T=CA1362750207DHX30c.2306T= (p.Val769=)
c.2222T= (p.Val741=)
c.*2206T= (n.*2206T=)
c.2390T= (p.Val797=)
n.423T=
c.2189T= (p.Val730=)
c.2210T= (p.Val737=)
c.2519T= (p.Val840=)
c.2408T= (p.Val803=)
c.2438T= (p.Val813=)
c.2195T= (p.Val732=)
3g.47848200G>ACA433608709DHX30c.2307G>A (p.Val769=)
c.2223G>A (p.Val741=)
c.*2207G>A (n.*2207G>A)
c.2391G>A (p.Val797=)
n.424G>A
c.2190G>A (p.Val730=)
c.2211G>A (p.Val737=)
c.2520G>A (p.Val840=)
c.2409G>A (p.Val803=)
c.2439G>A (p.Val813=)
c.2196G>A (p.Val732=)
 gnomAD v4
3g.47848200G>CCA433608710DHX30c.2307G>C (p.Val769=)
c.2223G>C (p.Val741=)
c.*2207G>C (n.*2207G>C)
c.2391G>C (p.Val797=)
n.424G>C
c.2190G>C (p.Val730=)
c.2211G>C (p.Val737=)
c.2520G>C (p.Val840=)
c.2409G>C (p.Val803=)
c.2439G>C (p.Val813=)
c.2196G>C (p.Val732=)
3g.47848200G>TCA433608711DHX30c.2307G>T (p.Val769=)
c.2223G>T (p.Val741=)
c.*2207G>T (n.*2207G>T)
c.2391G>T (p.Val797=)
n.424G>T
c.2190G>T (p.Val730=)
c.2211G>T (p.Val737=)
c.2520G>T (p.Val840=)
c.2409G>T (p.Val803=)
c.2439G>T (p.Val813=)
c.2196G>T (p.Val732=)
3g.47848200_47848205delinsCAAGAGCCAATGTGCA2573052183DHX30c.2307_2312delinsCAAGAGCCAATGTG (p.Trp770LysfsTer10)
c.2223_2228delinsCAAGAGCCAATGTG (p.Trp742LysfsTer10)
c.*2207_*2212delinsCAAGAGCCAATGTG (n.*2207_*2212delinsCAAGAGCCAATGTG)
c.2391_2396delinsCAAGAGCCAATGTG (p.Trp798LysfsTer10)
n.424_429delinsCAAGAGCCAATGTG
c.2190_2195delinsCAAGAGCCAATGTG (p.Trp731LysfsTer10)
c.2211_2216delinsCAAGAGCCAATGTG (p.Trp738LysfsTer10)
c.2520_2525delinsCAAGAGCCAATGTG (p.Trp841LysfsTer10)
c.2409_2414delinsCAAGAGCCAATGTG (p.Trp804LysfsTer10)
c.2439_2444delinsCAAGAGCCAATGTG (p.Trp814LysfsTer10)
c.2196_2201delinsCAAGAGCCAATGTG (p.Trp733LysfsTer10)
 ClinVar dbSNP
3g.47848201T>ACA352590177DHX30c.2308T>A (p.Trp770Arg)
c.2224T>A (p.Trp742Arg)
c.*2208T>A (n.*2208T>A)
c.2392T>A (p.Trp798Arg)
n.425T>A
c.2191T>A (p.Trp731Arg)
c.2212T>A (p.Trp738Arg)
c.2521T>A (p.Trp841Arg)
c.2410T>A (p.Trp804Arg)
c.2440T>A (p.Trp814Arg)
c.2197T>A (p.Trp733Arg)
3g.47848201T>CCA352590173DHX30c.2308T>C (p.Trp770Arg)
c.2224T>C (p.Trp742Arg)
c.*2208T>C (n.*2208T>C)
c.2392T>C (p.Trp798Arg)
n.425T>C
c.2191T>C (p.Trp731Arg)
c.2212T>C (p.Trp738Arg)
c.2521T>C (p.Trp841Arg)
c.2410T>C (p.Trp804Arg)
c.2440T>C (p.Trp814Arg)
c.2197T>C (p.Trp733Arg)
 dbSNP gnomAD v2
3g.47848201T>GCA352590175DHX30c.2308T>G (p.Trp770Gly)
c.2224T>G (p.Trp742Gly)
c.*2208T>G (n.*2208T>G)
c.2392T>G (p.Trp798Gly)
n.425T>G
c.2191T>G (p.Trp731Gly)
c.2212T>G (p.Trp738Gly)
c.2521T>G (p.Trp841Gly)
c.2410T>G (p.Trp804Gly)
c.2440T>G (p.Trp814Gly)
c.2197T>G (p.Trp733Gly)
3g.47848201T=CA1362750208DHX30c.2308T= (p.Trp770=)
c.2224T= (p.Trp742=)
c.*2208T= (n.*2208T=)
c.2392T= (p.Trp798=)
n.425T=
c.2191T= (p.Trp731=)
c.2212T= (p.Trp738=)
c.2521T= (p.Trp841=)
c.2410T= (p.Trp804=)
c.2440T= (p.Trp814=)
c.2197T= (p.Trp733=)
3g.47848202G>ACA352590179DHX30c.2309G>A (p.Trp770Ter)
c.2225G>A (p.Trp742Ter)
c.*2209G>A (n.*2209G>A)
c.2393G>A (p.Trp798Ter)
n.426G>A
c.2192G>A (p.Trp731Ter)
c.2213G>A (p.Trp738Ter)
c.2522G>A (p.Trp841Ter)
c.2411G>A (p.Trp804Ter)
c.2441G>A (p.Trp814Ter)
c.2198G>A (p.Trp733Ter)
3g.47848202G>CCA352590181DHX30c.2309G>C (p.Trp770Ser)
c.2225G>C (p.Trp742Ser)
c.*2209G>C (n.*2209G>C)
c.2393G>C (p.Trp798Ser)
n.426G>C
c.2192G>C (p.Trp731Ser)
c.2213G>C (p.Trp738Ser)
c.2522G>C (p.Trp841Ser)
c.2411G>C (p.Trp804Ser)
c.2441G>C (p.Trp814Ser)
c.2198G>C (p.Trp733Ser)
3g.47848202G>TCA352590185DHX30c.2309G>T (p.Trp770Leu)
c.2225G>T (p.Trp742Leu)
c.*2209G>T (n.*2209G>T)
c.2393G>T (p.Trp798Leu)
n.426G>T
c.2192G>T (p.Trp731Leu)
c.2213G>T (p.Trp738Leu)
c.2522G>T (p.Trp841Leu)
c.2411G>T (p.Trp804Leu)
c.2441G>T (p.Trp814Leu)
c.2198G>T (p.Trp733Leu)
3g.47848204delCA2499216805DHX30c.2311del (p.Val771TyrfsTer6)
c.2227del (p.Val743TyrfsTer6)
c.*2211del (n.*2211del)
c.2395del (p.Val799TyrfsTer6)
n.428del
c.2194del (p.Val732TyrfsTer6)
c.2215del (p.Val739TyrfsTer6)
c.2524del (p.Val842TyrfsTer6)
c.2413del (p.Val805TyrfsTer6)
c.2443del (p.Val815TyrfsTer6)
c.2200del (p.Val734TyrfsTer6)
 dbSNP
3g.47848203G>ACA352590188DHX30c.2310G>A (p.Trp770Ter)
c.2226G>A (p.Trp742Ter)
c.*2210G>A (n.*2210G>A)
c.2394G>A (p.Trp798Ter)
n.427G>A
c.2193G>A (p.Trp731Ter)
c.2214G>A (p.Trp738Ter)
c.2523G>A (p.Trp841Ter)
c.2412G>A (p.Trp804Ter)
c.2442G>A (p.Trp814Ter)
c.2199G>A (p.Trp733Ter)
3g.47848203G>CCA352590190DHX30c.2310G>C (p.Trp770Cys)
c.2226G>C (p.Trp742Cys)
c.*2210G>C (n.*2210G>C)
c.2394G>C (p.Trp798Cys)
n.427G>C
c.2193G>C (p.Trp731Cys)
c.2214G>C (p.Trp738Cys)
c.2523G>C (p.Trp841Cys)
c.2412G>C (p.Trp804Cys)
c.2442G>C (p.Trp814Cys)
c.2199G>C (p.Trp733Cys)
 gnomAD v4
3g.47848203G>TCA352590191DHX30c.2310G>T (p.Trp770Cys)
c.2226G>T (p.Trp742Cys)
c.*2210G>T (n.*2210G>T)
c.2394G>T (p.Trp798Cys)
n.427G>T
c.2193G>T (p.Trp731Cys)
c.2214G>T (p.Trp738Cys)
c.2523G>T (p.Trp841Cys)
c.2412G>T (p.Trp804Cys)
c.2442G>T (p.Trp814Cys)
c.2199G>T (p.Trp733Cys)
3g.47848204G>ACA352590194DHX30c.2311G>A (p.Val771Ile)
c.2227G>A (p.Val743Ile)
c.*2211G>A (n.*2211G>A)
c.2395G>A (p.Val799Ile)
n.428G>A
c.2194G>A (p.Val732Ile)
c.2215G>A (p.Val739Ile)
c.2524G>A (p.Val842Ile)
c.2413G>A (p.Val805Ile)
c.2443G>A (p.Val815Ile)
c.2200G>A (p.Val734Ile)
 gnomAD v4
3g.47848204G>CCA352590195DHX30c.2311G>C (p.Val771Leu)
c.2227G>C (p.Val743Leu)
c.*2211G>C (n.*2211G>C)
c.2395G>C (p.Val799Leu)
n.428G>C
c.2194G>C (p.Val732Leu)
c.2215G>C (p.Val739Leu)
c.2524G>C (p.Val842Leu)
c.2413G>C (p.Val805Leu)
c.2443G>C (p.Val815Leu)
c.2200G>C (p.Val734Leu)
3g.47848204G>TCA352590197DHX30c.2311G>T (p.Val771Leu)
c.2227G>T (p.Val743Leu)
c.*2211G>T (n.*2211G>T)
c.2395G>T (p.Val799Leu)
n.428G>T
c.2194G>T (p.Val732Leu)
c.2215G>T (p.Val739Leu)
c.2524G>T (p.Val842Leu)
c.2413G>T (p.Val805Leu)
c.2443G>T (p.Val815Leu)
c.2200G>T (p.Val734Leu)
3g.47848205T>ACA352590199DHX30c.2312T>A (p.Val771Glu)
c.2228T>A (p.Val743Glu)
c.*2212T>A (n.*2212T>A)
c.2396T>A (p.Val799Glu)
n.429T>A
c.2195T>A (p.Val732Glu)
c.2216T>A (p.Val739Glu)
c.2525T>A (p.Val842Glu)
c.2414T>A (p.Val805Glu)
c.2444T>A (p.Val815Glu)
c.2201T>A (p.Val734Glu)
3g.47848205T>CCA2370104DHX30c.2312T>C (p.Val771Ala)
c.2228T>C (p.Val743Ala)
c.*2212T>C (n.*2212T>C)
c.2396T>C (p.Val799Ala)
n.429T>C
c.2195T>C (p.Val732Ala)
c.2216T>C (p.Val739Ala)
c.2525T>C (p.Val842Ala)
c.2414T>C (p.Val805Ala)
c.2444T>C (p.Val815Ala)
c.2201T>C (p.Val734Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848205T>GCA352590203DHX30c.2312T>G (p.Val771Gly)
c.2228T>G (p.Val743Gly)
c.*2212T>G (n.*2212T>G)
c.2396T>G (p.Val799Gly)
n.429T>G
c.2195T>G (p.Val732Gly)
c.2216T>G (p.Val739Gly)
c.2525T>G (p.Val842Gly)
c.2414T>G (p.Val805Gly)
c.2444T>G (p.Val815Gly)
c.2201T>G (p.Val734Gly)
3g.47848205T=CA1362750209DHX30c.2312T= (p.Val771=)
c.2228T= (p.Val743=)
c.*2212T= (n.*2212T=)
c.2396T= (p.Val799=)
n.429T=
c.2195T= (p.Val732=)
c.2216T= (p.Val739=)
c.2525T= (p.Val842=)
c.2414T= (p.Val805=)
c.2444T= (p.Val815=)
c.2201T= (p.Val734=)
3g.47848206A>CCA433608714DHX30c.2313A>C (p.Val771=)
c.2229A>C (p.Val743=)
c.*2213A>C (n.*2213A>C)
c.2397A>C (p.Val799=)
n.430A>C
c.2196A>C (p.Val732=)
c.2217A>C (p.Val739=)
c.2526A>C (p.Val842=)
c.2415A>C (p.Val805=)
c.2445A>C (p.Val815=)
c.2202A>C (p.Val734=)
3g.47848206A>GCA433608715DHX30c.2313A>G (p.Val771=)
c.2229A>G (p.Val743=)
c.*2213A>G (n.*2213A>G)
c.2397A>G (p.Val799=)
n.430A>G
c.2196A>G (p.Val732=)
c.2217A>G (p.Val739=)
c.2526A>G (p.Val842=)
c.2415A>G (p.Val805=)
c.2445A>G (p.Val815=)
c.2202A>G (p.Val734=)
 gnomAD v4
3g.47848206A>TCA433608716DHX30c.2313A>T (p.Val771=)
c.2229A>T (p.Val743=)
c.*2213A>T (n.*2213A>T)
c.2397A>T (p.Val799=)
n.430A>T
c.2196A>T (p.Val732=)
c.2217A>T (p.Val739=)
c.2526A>T (p.Val842=)
c.2415A>T (p.Val805=)
c.2445A>T (p.Val815=)
c.2202A>T (p.Val734=)
3g.47848207T>ACA352590205DHX30c.2314T>A (p.Ser772Thr)
c.2230T>A (p.Ser744Thr)
c.*2214T>A (n.*2214T>A)
c.2398T>A (p.Ser800Thr)
n.431T>A
c.2197T>A (p.Ser733Thr)
c.2218T>A (p.Ser740Thr)
c.2527T>A (p.Ser843Thr)
c.2416T>A (p.Ser806Thr)
c.2446T>A (p.Ser816Thr)
c.2203T>A (p.Ser735Thr)
3g.47848207T>CCA352590207DHX30c.2314T>C (p.Ser772Pro)
c.2230T>C (p.Ser744Pro)
c.*2214T>C (n.*2214T>C)
c.2398T>C (p.Ser800Pro)
n.431T>C
c.2197T>C (p.Ser733Pro)
c.2218T>C (p.Ser740Pro)
c.2527T>C (p.Ser843Pro)
c.2416T>C (p.Ser806Pro)
c.2446T>C (p.Ser816Pro)
c.2203T>C (p.Ser735Pro)
3g.47848207T>GCA352590204DHX30c.2314T>G (p.Ser772Ala)
c.2230T>G (p.Ser744Ala)
c.*2214T>G (n.*2214T>G)
c.2398T>G (p.Ser800Ala)
n.431T>G
c.2197T>G (p.Ser733Ala)
c.2218T>G (p.Ser740Ala)
c.2527T>G (p.Ser843Ala)
c.2416T>G (p.Ser806Ala)
c.2446T>G (p.Ser816Ala)
c.2203T>G (p.Ser735Ala)
 ClinVar
3g.47848208C>ACA352590209DHX30c.2315C>A (p.Ser772Ter)
c.2231C>A (p.Ser744Ter)
c.*2215C>A (n.*2215C>A)
c.2399C>A (p.Ser800Ter)
n.432C>A
c.2198C>A (p.Ser733Ter)
c.2219C>A (p.Ser740Ter)
c.2528C>A (p.Ser843Ter)
c.2417C>A (p.Ser806Ter)
c.2447C>A (p.Ser816Ter)
c.2204C>A (p.Ser735Ter)
3g.47848208C>GCA352590213DHX30c.2315C>G (p.Ser772Ter)
c.2231C>G (p.Ser744Ter)
c.*2215C>G (n.*2215C>G)
c.2399C>G (p.Ser800Ter)
n.432C>G
c.2198C>G (p.Ser733Ter)
c.2219C>G (p.Ser740Ter)
c.2528C>G (p.Ser843Ter)
c.2417C>G (p.Ser806Ter)
c.2447C>G (p.Ser816Ter)
c.2204C>G (p.Ser735Ter)
3g.47848208C>TCA352590211DHX30c.2315C>T (p.Ser772Leu)
c.2231C>T (p.Ser744Leu)
c.*2215C>T (n.*2215C>T)
c.2399C>T (p.Ser800Leu)
n.432C>T
c.2198C>T (p.Ser733Leu)
c.2219C>T (p.Ser740Leu)
c.2528C>T (p.Ser843Leu)
c.2417C>T (p.Ser806Leu)
c.2447C>T (p.Ser816Leu)
c.2204C>T (p.Ser735Leu)
3g.47848209A>CCA433608720DHX30c.2316A>C (p.Ser772=)
c.2232A>C (p.Ser744=)
c.*2216A>C (n.*2216A>C)
c.2400A>C (p.Ser800=)
n.433A>C
c.2199A>C (p.Ser733=)
c.2220A>C (p.Ser740=)
c.2529A>C (p.Ser843=)
c.2418A>C (p.Ser806=)
c.2448A>C (p.Ser816=)
c.2205A>C (p.Ser735=)
3g.47848209A>GCA433608722DHX30c.2316A>G (p.Ser772=)
c.2232A>G (p.Ser744=)
c.*2216A>G (n.*2216A>G)
c.2400A>G (p.Ser800=)
n.433A>G
c.2199A>G (p.Ser733=)
c.2220A>G (p.Ser740=)
c.2529A>G (p.Ser843=)
c.2418A>G (p.Ser806=)
c.2448A>G (p.Ser816=)
c.2205A>G (p.Ser735=)
3g.47848209A>TCA433608723DHX30c.2316A>T (p.Ser772=)
c.2232A>T (p.Ser744=)
c.*2216A>T (n.*2216A>T)
c.2400A>T (p.Ser800=)
n.433A>T
c.2199A>T (p.Ser733=)
c.2220A>T (p.Ser740=)
c.2529A>T (p.Ser843=)
c.2418A>T (p.Ser806=)
c.2448A>T (p.Ser816=)
c.2205A>T (p.Ser735=)
3g.47848210A>CCA433608724DHX30c.2317A>C (p.Arg773=)
c.2233A>C (p.Arg745=)
c.*2217A>C (n.*2217A>C)
c.2401A>C (p.Arg801=)
n.434A>C
c.2200A>C (p.Arg734=)
c.2221A>C (p.Arg741=)
c.2530A>C (p.Arg844=)
c.2419A>C (p.Arg807=)
c.2449A>C (p.Arg817=)
c.2206A>C (p.Arg736=)
 gnomAD v4
3g.47848210A>GCA352590215DHX30c.2317A>G (p.Arg773Gly)
c.2233A>G (p.Arg745Gly)
c.*2217A>G (n.*2217A>G)
c.2401A>G (p.Arg801Gly)
n.434A>G
c.2200A>G (p.Arg734Gly)
c.2221A>G (p.Arg741Gly)
c.2530A>G (p.Arg844Gly)
c.2419A>G (p.Arg807Gly)
c.2449A>G (p.Arg817Gly)
c.2206A>G (p.Arg736Gly)
3g.47848210A>TCA352590218DHX30c.2317A>T (p.Arg773Ter)
c.2233A>T (p.Arg745Ter)
c.*2217A>T (n.*2217A>T)
c.2401A>T (p.Arg801Ter)
n.434A>T
c.2200A>T (p.Arg734Ter)
c.2221A>T (p.Arg741Ter)
c.2530A>T (p.Arg844Ter)
c.2419A>T (p.Arg807Ter)
c.2449A>T (p.Arg817Ter)
c.2206A>T (p.Arg736Ter)
3g.47848211G>ACA352590220DHX30c.2318G>A (p.Arg773Lys)
c.2234G>A (p.Arg745Lys)
c.*2218G>A (n.*2218G>A)
c.2402G>A (p.Arg801Lys)
n.435G>A
c.2201G>A (p.Arg734Lys)
c.2222G>A (p.Arg741Lys)
c.2531G>A (p.Arg844Lys)
c.2420G>A (p.Arg807Lys)
c.2450G>A (p.Arg817Lys)
c.2207G>A (p.Arg736Lys)
3g.47848211G>CCA352590223DHX30c.2318G>C (p.Arg773Thr)
c.2234G>C (p.Arg745Thr)
c.*2218G>C (n.*2218G>C)
c.2402G>C (p.Arg801Thr)
n.435G>C
c.2201G>C (p.Arg734Thr)
c.2222G>C (p.Arg741Thr)
c.2531G>C (p.Arg844Thr)
c.2420G>C (p.Arg807Thr)
c.2450G>C (p.Arg817Thr)
c.2207G>C (p.Arg736Thr)
3g.47848211G>TCA352590225DHX30c.2318G>T (p.Arg773Ile)
c.2234G>T (p.Arg745Ile)
c.*2218G>T (n.*2218G>T)
c.2402G>T (p.Arg801Ile)
n.435G>T
c.2201G>T (p.Arg734Ile)
c.2222G>T (p.Arg741Ile)
c.2531G>T (p.Arg844Ile)
c.2420G>T (p.Arg807Ile)
c.2450G>T (p.Arg817Ile)
c.2207G>T (p.Arg736Ile)
3g.47848212A>CCA352590227DHX30c.2319A>C (p.Arg773Ser)
c.2235A>C (p.Arg745Ser)
c.*2219A>C (n.*2219A>C)
c.2403A>C (p.Arg801Ser)
n.436A>C
c.2202A>C (p.Arg734Ser)
c.2223A>C (p.Arg741Ser)
c.2532A>C (p.Arg844Ser)
c.2421A>C (p.Arg807Ser)
c.2451A>C (p.Arg817Ser)
c.2208A>C (p.Arg736Ser)
3g.47848212A>GCA433608726DHX30c.2319A>G (p.Arg773=)
c.2235A>G (p.Arg745=)
c.*2219A>G (n.*2219A>G)
c.2403A>G (p.Arg801=)
n.436A>G
c.2202A>G (p.Arg734=)
c.2223A>G (p.Arg741=)
c.2532A>G (p.Arg844=)
c.2421A>G (p.Arg807=)
c.2451A>G (p.Arg817=)
c.2208A>G (p.Arg736=)
3g.47848212A>TCA352590229DHX30c.2319A>T (p.Arg773Ser)
c.2235A>T (p.Arg745Ser)
c.*2219A>T (n.*2219A>T)
c.2403A>T (p.Arg801Ser)
n.436A>T
c.2202A>T (p.Arg734Ser)
c.2223A>T (p.Arg741Ser)
c.2532A>T (p.Arg844Ser)
c.2421A>T (p.Arg807Ser)
c.2451A>T (p.Arg817Ser)
c.2208A>T (p.Arg736Ser)
3g.47848213G>ACA352590231DHX30c.2320G>A (p.Ala774Thr)
c.2236G>A (p.Ala746Thr)
c.*2220G>A (n.*2220G>A)
c.2404G>A (p.Ala802Thr)
n.437G>A
c.2203G>A (p.Ala735Thr)
c.2224G>A (p.Ala742Thr)
c.2533G>A (p.Ala845Thr)
c.2422G>A (p.Ala808Thr)
c.2452G>A (p.Ala818Thr)
c.2209G>A (p.Ala737Thr)
 dbSNP gnomAD v4
3g.47848213G>CCA352590233DHX30c.2320G>C (p.Ala774Pro)
c.2236G>C (p.Ala746Pro)
c.*2220G>C (n.*2220G>C)
c.2404G>C (p.Ala802Pro)
n.437G>C
c.2203G>C (p.Ala735Pro)
c.2224G>C (p.Ala742Pro)
c.2533G>C (p.Ala845Pro)
c.2422G>C (p.Ala808Pro)
c.2452G>C (p.Ala818Pro)
c.2209G>C (p.Ala737Pro)
3g.47848213G=CA1362750210DHX30c.2320G= (p.Ala774=)
c.2236G= (p.Ala746=)
c.*2220G= (n.*2220G=)
c.2404G= (p.Ala802=)
n.437G=
c.2203G= (p.Ala735=)
c.2224G= (p.Ala742=)
c.2533G= (p.Ala845=)
c.2422G= (p.Ala808=)
c.2452G= (p.Ala818=)
c.2209G= (p.Ala737=)
3g.47848213G>TCA352590235DHX30c.2320G>T (p.Ala774Ser)
c.2236G>T (p.Ala746Ser)
c.*2220G>T (n.*2220G>T)
c.2404G>T (p.Ala802Ser)
n.437G>T
c.2203G>T (p.Ala735Ser)
c.2224G>T (p.Ala742Ser)
c.2533G>T (p.Ala845Ser)
c.2422G>T (p.Ala808Ser)
c.2452G>T (p.Ala818Ser)
c.2209G>T (p.Ala737Ser)
3g.47848214C>ACA352590241DHX30c.2321C>A (p.Ala774Asp)
c.2237C>A (p.Ala746Asp)
c.*2221C>A (n.*2221C>A)
c.2405C>A (p.Ala802Asp)
n.438C>A
c.2204C>A (p.Ala735Asp)
c.2225C>A (p.Ala742Asp)
c.2534C>A (p.Ala845Asp)
c.2423C>A (p.Ala808Asp)
c.2453C>A (p.Ala818Asp)
c.2210C>A (p.Ala737Asp)
 dbSNP gnomAD v2
3g.47848214C=CA1362750211DHX30c.2321C= (p.Ala774=)
c.2237C= (p.Ala746=)
c.*2221C= (n.*2221C=)
c.2405C= (p.Ala802=)
n.438C=
c.2204C= (p.Ala735=)
c.2225C= (p.Ala742=)
c.2534C= (p.Ala845=)
c.2423C= (p.Ala808=)
c.2453C= (p.Ala818=)
c.2210C= (p.Ala737=)
3g.47848214C>GCA352590239DHX30c.2321C>G (p.Ala774Gly)
c.2237C>G (p.Ala746Gly)
c.*2221C>G (n.*2221C>G)
c.2405C>G (p.Ala802Gly)
n.438C>G
c.2204C>G (p.Ala735Gly)
c.2225C>G (p.Ala742Gly)
c.2534C>G (p.Ala845Gly)
c.2423C>G (p.Ala808Gly)
c.2453C>G (p.Ala818Gly)
c.2210C>G (p.Ala737Gly)
3g.47848214C>TCA352590237DHX30c.2321C>T (p.Ala774Val)
c.2237C>T (p.Ala746Val)
c.*2221C>T (n.*2221C>T)
c.2405C>T (p.Ala802Val)
n.438C>T
c.2204C>T (p.Ala735Val)
c.2225C>T (p.Ala742Val)
c.2534C>T (p.Ala845Val)
c.2423C>T (p.Ala808Val)
c.2453C>T (p.Ala818Val)
c.2210C>T (p.Ala737Val)
3g.47848215dupCA2841435347DHX30c.2322dup (p.Asn775GlnfsTer?)
c.2238dup (p.Asn747GlnfsTer?)
c.*2222dup (n.*2222dup)
c.2406dup (p.Asn803GlnfsTer?)
n.439dup
c.2205dup (p.Asn736GlnfsTer?)
c.2226dup (p.Asn743GlnfsTer?)
c.2535dup (p.Asn846GlnfsTer?)
c.2424dup (p.Asn809GlnfsTer?)
c.2454dup (p.Asn819GlnfsTer?)
c.2211dup (p.Asn738GlnfsTer?)
3g.47848215C>ACA433608730DHX30c.2322C>A (p.Ala774=)
c.2238C>A (p.Ala746=)
c.*2222C>A (n.*2222C>A)
c.2406C>A (p.Ala802=)
n.439C>A
c.2205C>A (p.Ala735=)
c.2226C>A (p.Ala742=)
c.2535C>A (p.Ala845=)
c.2424C>A (p.Ala808=)
c.2454C>A (p.Ala818=)
c.2211C>A (p.Ala737=)
3g.47848215C=CA1362750212DHX30c.2322C= (p.Ala774=)
c.2238C= (p.Ala746=)
c.*2222C= (n.*2222C=)
c.2406C= (p.Ala802=)
n.439C=
c.2205C= (p.Ala735=)
c.2226C= (p.Ala742=)
c.2535C= (p.Ala845=)
c.2424C= (p.Ala808=)
c.2454C= (p.Ala818=)
c.2211C= (p.Ala737=)
3g.47848215C>GCA433608732DHX30c.2322C>G (p.Ala774=)
c.2238C>G (p.Ala746=)
c.*2222C>G (n.*2222C>G)
c.2406C>G (p.Ala802=)
n.439C>G
c.2205C>G (p.Ala735=)
c.2226C>G (p.Ala742=)
c.2535C>G (p.Ala845=)
c.2424C>G (p.Ala808=)
c.2454C>G (p.Ala818=)
c.2211C>G (p.Ala737=)
3g.47848215C>TCA433608733DHX30c.2322C>T (p.Ala774=)
c.2238C>T (p.Ala746=)
c.*2222C>T (n.*2222C>T)
c.2406C>T (p.Ala802=)
n.439C>T
c.2205C>T (p.Ala735=)
c.2226C>T (p.Ala742=)
c.2535C>T (p.Ala845=)
c.2424C>T (p.Ala808=)
c.2454C>T (p.Ala818=)
c.2211C>T (p.Ala737=)
 dbSNP gnomAD v4
3g.47848216A>CCA352590242DHX30c.2323A>C (p.Asn775His)
c.2239A>C (p.Asn747His)
c.*2223A>C (n.*2223A>C)
c.2407A>C (p.Asn803His)
n.440A>C
c.2206A>C (p.Asn736His)
c.2227A>C (p.Asn743His)
c.2536A>C (p.Asn846His)
c.2425A>C (p.Asn809His)
c.2455A>C (p.Asn819His)
c.2212A>C (p.Asn738His)
3g.47848216A>GCA352590243DHX30c.2323A>G (p.Asn775Asp)
c.2239A>G (p.Asn747Asp)
c.*2223A>G (n.*2223A>G)
c.2407A>G (p.Asn803Asp)
n.440A>G
c.2206A>G (p.Asn736Asp)
c.2227A>G (p.Asn743Asp)
c.2536A>G (p.Asn846Asp)
c.2425A>G (p.Asn809Asp)
c.2455A>G (p.Asn819Asp)
c.2212A>G (p.Asn738Asp)
3g.47848216A>TCA352590245DHX30c.2323A>T (p.Asn775Tyr)
c.2239A>T (p.Asn747Tyr)
c.*2223A>T (n.*2223A>T)
c.2407A>T (p.Asn803Tyr)
n.440A>T
c.2206A>T (p.Asn736Tyr)
c.2227A>T (p.Asn743Tyr)
c.2536A>T (p.Asn846Tyr)
c.2425A>T (p.Asn809Tyr)
c.2455A>T (p.Asn819Tyr)
c.2212A>T (p.Asn738Tyr)
3g.47848217A=CA1362750213DHX30c.2324A= (p.Asn775=)
c.2240A= (p.Asn747=)
c.*2224A= (n.*2224A=)
c.2408A= (p.Asn803=)
n.441A=
c.2207A= (p.Asn736=)
c.2228A= (p.Asn743=)
c.2537A= (p.Asn846=)
c.2426A= (p.Asn809=)
c.2456A= (p.Asn819=)
c.2213A= (p.Asn738=)
3g.47848217A>CCA352590246DHX30c.2324A>C (p.Asn775Thr)
c.2240A>C (p.Asn747Thr)
c.*2224A>C (n.*2224A>C)
c.2408A>C (p.Asn803Thr)
n.441A>C
c.2207A>C (p.Asn736Thr)
c.2228A>C (p.Asn743Thr)
c.2537A>C (p.Asn846Thr)
c.2426A>C (p.Asn809Thr)
c.2456A>C (p.Asn819Thr)
c.2213A>C (p.Asn738Thr)
3g.47848217A>GCA73899222DHX30c.2324A>G (p.Asn775Ser)
c.2240A>G (p.Asn747Ser)
c.*2224A>G (n.*2224A>G)
c.2408A>G (p.Asn803Ser)
n.441A>G
c.2207A>G (p.Asn736Ser)
c.2228A>G (p.Asn743Ser)
c.2537A>G (p.Asn846Ser)
c.2426A>G (p.Asn809Ser)
c.2456A>G (p.Asn819Ser)
c.2213A>G (p.Asn738Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.47848217A>TCA352590249DHX30c.2324A>T (p.Asn775Ile)
c.2240A>T (p.Asn747Ile)
c.*2224A>T (n.*2224A>T)
c.2408A>T (p.Asn803Ile)
n.441A>T
c.2207A>T (p.Asn736Ile)
c.2228A>T (p.Asn743Ile)
c.2537A>T (p.Asn846Ile)
c.2426A>T (p.Asn809Ile)
c.2456A>T (p.Asn819Ile)
c.2213A>T (p.Asn738Ile)
3g.47848218T>ACA352590251DHX30c.2325T>A (p.Asn775Lys)
c.2241T>A (p.Asn747Lys)
c.*2225T>A (n.*2225T>A)
c.2409T>A (p.Asn803Lys)
n.442T>A
c.2208T>A (p.Asn736Lys)
c.2229T>A (p.Asn743Lys)
c.2538T>A (p.Asn846Lys)
c.2427T>A (p.Asn809Lys)
c.2457T>A (p.Asn819Lys)
c.2214T>A (p.Asn738Lys)
3g.47848218T>CCA433608737DHX30c.2325T>C (p.Asn775=)
c.2241T>C (p.Asn747=)
c.*2225T>C (n.*2225T>C)
c.2409T>C (p.Asn803=)
n.442T>C
c.2208T>C (p.Asn736=)
c.2229T>C (p.Asn743=)
c.2538T>C (p.Asn846=)
c.2427T>C (p.Asn809=)
c.2457T>C (p.Asn819=)
c.2214T>C (p.Asn738=)
 dbSNP
3g.47848218T>GCA352590253DHX30c.2325T>G (p.Asn775Lys)
c.2241T>G (p.Asn747Lys)
c.*2225T>G (n.*2225T>G)
c.2409T>G (p.Asn803Lys)
n.442T>G
c.2208T>G (p.Asn736Lys)
c.2229T>G (p.Asn743Lys)
c.2538T>G (p.Asn846Lys)
c.2427T>G (p.Asn809Lys)
c.2457T>G (p.Asn819Lys)
c.2214T>G (p.Asn738Lys)
3g.47848218T=CA1362750214DHX30c.2325T= (p.Asn775=)
c.2241T= (p.Asn747=)
c.*2225T= (n.*2225T=)
c.2409T= (p.Asn803=)
n.442T=
c.2208T= (p.Asn736=)
c.2229T= (p.Asn743=)
c.2538T= (p.Asn846=)
c.2427T= (p.Asn809=)
c.2457T= (p.Asn819=)
c.2214T= (p.Asn738=)
3g.47848219G>ACA352590256DHX30c.2326G>A (p.Val776Met)
c.2242G>A (p.Val748Met)
c.*2226G>A (n.*2226G>A)
c.2410G>A (p.Val804Met)
n.443G>A
c.2209G>A (p.Val737Met)
c.2230G>A (p.Val744Met)
c.2539G>A (p.Val847Met)
c.2428G>A (p.Val810Met)
c.2458G>A (p.Val820Met)
c.2215G>A (p.Val739Met)
3g.47848219G>CCA352590258DHX30c.2326G>C (p.Val776Leu)
c.2242G>C (p.Val748Leu)
c.*2226G>C (n.*2226G>C)
c.2410G>C (p.Val804Leu)
n.443G>C
c.2209G>C (p.Val737Leu)
c.2230G>C (p.Val744Leu)
c.2539G>C (p.Val847Leu)
c.2428G>C (p.Val810Leu)
c.2458G>C (p.Val820Leu)
c.2215G>C (p.Val739Leu)
 gnomAD v4
3g.47848219G>TCA352590260DHX30c.2326G>T (p.Val776Leu)
c.2242G>T (p.Val748Leu)
c.*2226G>T (n.*2226G>T)
c.2410G>T (p.Val804Leu)
n.443G>T
c.2209G>T (p.Val737Leu)
c.2230G>T (p.Val744Leu)
c.2539G>T (p.Val847Leu)
c.2428G>T (p.Val810Leu)
c.2458G>T (p.Val820Leu)
c.2215G>T (p.Val739Leu)
3g.47848220T>ACA352590263DHX30c.2327T>A (p.Val776Glu)
c.2243T>A (p.Val748Glu)
c.*2227T>A (n.*2227T>A)
c.2411T>A (p.Val804Glu)
n.444T>A
c.2210T>A (p.Val737Glu)
c.2231T>A (p.Val744Glu)
c.2540T>A (p.Val847Glu)
c.2429T>A (p.Val810Glu)
c.2459T>A (p.Val820Glu)
c.2216T>A (p.Val739Glu)
3g.47848220T>CCA352590265DHX30c.2327T>C (p.Val776Ala)
c.2243T>C (p.Val748Ala)
c.*2227T>C (n.*2227T>C)
c.2411T>C (p.Val804Ala)
n.444T>C
c.2210T>C (p.Val737Ala)
c.2231T>C (p.Val744Ala)
c.2540T>C (p.Val847Ala)
c.2429T>C (p.Val810Ala)
c.2459T>C (p.Val820Ala)
c.2216T>C (p.Val739Ala)
3g.47848220T>GCA2370105DHX30c.2327T>G (p.Val776Gly)
c.2243T>G (p.Val748Gly)
c.*2227T>G (n.*2227T>G)
c.2411T>G (p.Val804Gly)
n.444T>G
c.2210T>G (p.Val737Gly)
c.2231T>G (p.Val744Gly)
c.2540T>G (p.Val847Gly)
c.2429T>G (p.Val810Gly)
c.2459T>G (p.Val820Gly)
c.2216T>G (p.Val739Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848220T=CA1362750215DHX30c.2327T= (p.Val776=)
c.2243T= (p.Val748=)
c.*2227T= (n.*2227T=)
c.2411T= (p.Val804=)
n.444T=
c.2210T= (p.Val737=)
c.2231T= (p.Val744=)
c.2540T= (p.Val847=)
c.2429T= (p.Val810=)
c.2459T= (p.Val820=)
c.2216T= (p.Val739=)
3g.47848221G>ACA433608741DHX30c.2328G>A (p.Val776=)
c.2244G>A (p.Val748=)
c.*2228G>A (n.*2228G>A)
c.2412G>A (p.Val804=)
n.445G>A
c.2211G>A (p.Val737=)
c.2232G>A (p.Val744=)
c.2541G>A (p.Val847=)
c.2430G>A (p.Val810=)
c.2460G>A (p.Val820=)
c.2217G>A (p.Val739=)
3g.47848221G>CCA433608740DHX30c.2328G>C (p.Val776=)
c.2244G>C (p.Val748=)
c.*2228G>C (n.*2228G>C)
c.2412G>C (p.Val804=)
n.445G>C
c.2211G>C (p.Val737=)
c.2232G>C (p.Val744=)
c.2541G>C (p.Val847=)
c.2430G>C (p.Val810=)
c.2460G>C (p.Val820=)
c.2217G>C (p.Val739=)
 gnomAD v4
3g.47848221G>TCA433608739DHX30c.2328G>T (p.Val776=)
c.2244G>T (p.Val748=)
c.*2228G>T (n.*2228G>T)
c.2412G>T (p.Val804=)
n.445G>T
c.2211G>T (p.Val737=)
c.2232G>T (p.Val744=)
c.2541G>T (p.Val847=)
c.2430G>T (p.Val810=)
c.2460G>T (p.Val820=)
c.2217G>T (p.Val739=)
3g.47848222A=CA1362750216DHX30c.2329A= (p.Ile777=)
c.2245A= (p.Ile749=)
c.*2229A= (n.*2229A=)
c.2413A= (p.Ile805=)
n.446A=
c.2212A= (p.Ile738=)
c.2233A= (p.Ile745=)
c.2542A= (p.Ile848=)
c.2431A= (p.Ile811=)
c.2461A= (p.Ile821=)
c.2218A= (p.Ile740=)
3g.47848222A>CCA352590267DHX30c.2329A>C (p.Ile777Leu)
c.2245A>C (p.Ile749Leu)
c.*2229A>C (n.*2229A>C)
c.2413A>C (p.Ile805Leu)
n.446A>C
c.2212A>C (p.Ile738Leu)
c.2233A>C (p.Ile745Leu)
c.2542A>C (p.Ile848Leu)
c.2431A>C (p.Ile811Leu)
c.2461A>C (p.Ile821Leu)
c.2218A>C (p.Ile740Leu)
3g.47848222A>GCA352590269DHX30c.2329A>G (p.Ile777Val)
c.2245A>G (p.Ile749Val)
c.*2229A>G (n.*2229A>G)
c.2413A>G (p.Ile805Val)
n.446A>G
c.2212A>G (p.Ile738Val)
c.2233A>G (p.Ile745Val)
c.2542A>G (p.Ile848Val)
c.2431A>G (p.Ile811Val)
c.2461A>G (p.Ile821Val)
c.2218A>G (p.Ile740Val)
3g.47848222A>TCA352590271DHX30c.2329A>T (p.Ile777Phe)
c.2245A>T (p.Ile749Phe)
c.*2229A>T (n.*2229A>T)
c.2413A>T (p.Ile805Phe)
n.446A>T
c.2212A>T (p.Ile738Phe)
c.2233A>T (p.Ile745Phe)
c.2542A>T (p.Ile848Phe)
c.2431A>T (p.Ile811Phe)
c.2461A>T (p.Ile821Phe)
c.2218A>T (p.Ile740Phe)
 dbSNP
3g.47848223T>ACA2370106DHX30c.2330T>A (p.Ile777Asn)
c.2246T>A (p.Ile749Asn)
c.*2230T>A (n.*2230T>A)
c.2414T>A (p.Ile805Asn)
n.447T>A
c.2213T>A (p.Ile738Asn)
c.2234T>A (p.Ile745Asn)
c.2543T>A (p.Ile848Asn)
c.2432T>A (p.Ile811Asn)
c.2462T>A (p.Ile821Asn)
c.2219T>A (p.Ile740Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848223T>CCA352590273DHX30c.2330T>C (p.Ile777Thr)
c.2246T>C (p.Ile749Thr)
c.*2230T>C (n.*2230T>C)
c.2414T>C (p.Ile805Thr)
n.447T>C
c.2213T>C (p.Ile738Thr)
c.2234T>C (p.Ile745Thr)
c.2543T>C (p.Ile848Thr)
c.2432T>C (p.Ile811Thr)
c.2462T>C (p.Ile821Thr)
c.2219T>C (p.Ile740Thr)
3g.47848223T>GCA352590274DHX30c.2330T>G (p.Ile777Ser)
c.2246T>G (p.Ile749Ser)
c.*2230T>G (n.*2230T>G)
c.2414T>G (p.Ile805Ser)
n.447T>G
c.2213T>G (p.Ile738Ser)
c.2234T>G (p.Ile745Ser)
c.2543T>G (p.Ile848Ser)
c.2432T>G (p.Ile811Ser)
c.2462T>G (p.Ile821Ser)
c.2219T>G (p.Ile740Ser)
3g.47848223T=CA1362750217DHX30c.2330T= (p.Ile777=)
c.2246T= (p.Ile749=)
c.*2230T= (n.*2230T=)
c.2414T= (p.Ile805=)
n.447T=
c.2213T= (p.Ile738=)
c.2234T= (p.Ile745=)
c.2543T= (p.Ile848=)
c.2432T= (p.Ile811=)
c.2462T= (p.Ile821=)
c.2219T= (p.Ile740=)
3g.47848224C>ACA433608745DHX30c.2331C>A (p.Ile777=)
c.2247C>A (p.Ile749=)
c.*2231C>A (n.*2231C>A)
c.2415C>A (p.Ile805=)
n.448C>A
c.2214C>A (p.Ile738=)
c.2235C>A (p.Ile745=)
c.2544C>A (p.Ile848=)
c.2433C>A (p.Ile811=)
c.2463C>A (p.Ile821=)
c.2220C>A (p.Ile740=)
3g.47848224C=CA1362750218DHX30c.2331C= (p.Ile777=)
c.2247C= (p.Ile749=)
c.*2231C= (n.*2231C=)
c.2415C= (p.Ile805=)
n.448C=
c.2214C= (p.Ile738=)
c.2235C= (p.Ile745=)
c.2544C= (p.Ile848=)
c.2433C= (p.Ile811=)
c.2463C= (p.Ile821=)
c.2220C= (p.Ile740=)
3g.47848224C>GCA352590276DHX30c.2331C>G (p.Ile777Met)
c.2247C>G (p.Ile749Met)
c.*2231C>G (n.*2231C>G)
c.2415C>G (p.Ile805Met)
n.448C>G
c.2214C>G (p.Ile738Met)
c.2235C>G (p.Ile745Met)
c.2544C>G (p.Ile848Met)
c.2433C>G (p.Ile811Met)
c.2463C>G (p.Ile821Met)
c.2220C>G (p.Ile740Met)
3g.47848224C>TCA2370107DHX30c.2331C>T (p.Ile777=)
c.2247C>T (p.Ile749=)
c.*2231C>T (n.*2231C>T)
c.2415C>T (p.Ile805=)
n.448C>T
c.2214C>T (p.Ile738=)
c.2235C>T (p.Ile745=)
c.2544C>T (p.Ile848=)
c.2433C>T (p.Ile811=)
c.2463C>T (p.Ile821=)
c.2220C>T (p.Ile740=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848225C>ACA352590279DHX30c.2332C>A (p.Gln778Lys)
c.2248C>A (p.Gln750Lys)
c.*2232C>A (n.*2232C>A)
c.2416C>A (p.Gln806Lys)
n.449C>A
c.2215C>A (p.Gln739Lys)
c.2236C>A (p.Gln746Lys)
c.2545C>A (p.Gln849Lys)
c.2434C>A (p.Gln812Lys)
c.2464C>A (p.Gln822Lys)
c.2221C>A (p.Gln741Lys)
3g.47848225C>GCA352590281DHX30c.2332C>G (p.Gln778Glu)
c.2248C>G (p.Gln750Glu)
c.*2232C>G (n.*2232C>G)
c.2416C>G (p.Gln806Glu)
n.449C>G
c.2215C>G (p.Gln739Glu)
c.2236C>G (p.Gln746Glu)
c.2545C>G (p.Gln849Glu)
c.2434C>G (p.Gln812Glu)
c.2464C>G (p.Gln822Glu)
c.2221C>G (p.Gln741Glu)
3g.47848225C>TCA352590282DHX30c.2332C>T (p.Gln778Ter)
c.2248C>T (p.Gln750Ter)
c.*2232C>T (n.*2232C>T)
c.2416C>T (p.Gln806Ter)
n.449C>T
c.2215C>T (p.Gln739Ter)
c.2236C>T (p.Gln746Ter)
c.2545C>T (p.Gln849Ter)
c.2434C>T (p.Gln812Ter)
c.2464C>T (p.Gln822Ter)
c.2221C>T (p.Gln741Ter)
3g.47848226A>CCA352590286DHX30c.2333A>C (p.Gln778Pro)
c.2249A>C (p.Gln750Pro)
c.*2233A>C (n.*2233A>C)
c.2417A>C (p.Gln806Pro)
n.450A>C
c.2216A>C (p.Gln739Pro)
c.2237A>C (p.Gln746Pro)
c.2546A>C (p.Gln849Pro)
c.2435A>C (p.Gln812Pro)
c.2465A>C (p.Gln822Pro)
c.2222A>C (p.Gln741Pro)
3g.47848226A>GCA352590287DHX30c.2333A>G (p.Gln778Arg)
c.2249A>G (p.Gln750Arg)
c.*2233A>G (n.*2233A>G)
c.2417A>G (p.Gln806Arg)
n.450A>G
c.2216A>G (p.Gln739Arg)
c.2237A>G (p.Gln746Arg)
c.2546A>G (p.Gln849Arg)
c.2435A>G (p.Gln812Arg)
c.2465A>G (p.Gln822Arg)
c.2222A>G (p.Gln741Arg)
3g.47848226A>TCA352590284DHX30c.2333A>T (p.Gln778Leu)
c.2249A>T (p.Gln750Leu)
c.*2233A>T (n.*2233A>T)
c.2417A>T (p.Gln806Leu)
n.450A>T
c.2216A>T (p.Gln739Leu)
c.2237A>T (p.Gln746Leu)
c.2546A>T (p.Gln849Leu)
c.2435A>T (p.Gln812Leu)
c.2465A>T (p.Gln822Leu)
c.2222A>T (p.Gln741Leu)
3g.47848227G>ACA433608749DHX30c.2334G>A (p.Gln778=)
c.2250G>A (p.Gln750=)
c.*2234G>A (n.*2234G>A)
c.2418G>A (p.Gln806=)
n.451G>A
c.2217G>A (p.Gln739=)
c.2238G>A (p.Gln746=)
c.2547G>A (p.Gln849=)
c.2436G>A (p.Gln812=)
c.2466G>A (p.Gln822=)
c.2223G>A (p.Gln741=)
 gnomAD v4
3g.47848227G>CCA352590289DHX30c.2334G>C (p.Gln778His)
c.2250G>C (p.Gln750His)
c.*2234G>C (n.*2234G>C)
c.2418G>C (p.Gln806His)
n.451G>C
c.2217G>C (p.Gln739His)
c.2238G>C (p.Gln746His)
c.2547G>C (p.Gln849His)
c.2436G>C (p.Gln812His)
c.2466G>C (p.Gln822His)
c.2223G>C (p.Gln741His)
3g.47848227G>TCA352590291DHX30c.2334G>T (p.Gln778His)
c.2250G>T (p.Gln750His)
c.*2234G>T (n.*2234G>T)
c.2418G>T (p.Gln806His)
n.451G>T
c.2217G>T (p.Gln739His)
c.2238G>T (p.Gln746His)
c.2547G>T (p.Gln849His)
c.2436G>T (p.Gln812His)
c.2466G>T (p.Gln822His)
c.2223G>T (p.Gln741His)
3g.47848228C>ACA352590293DHX30c.2335C>A (p.Arg779Ser)
c.2251C>A (p.Arg751Ser)
c.*2235C>A (n.*2235C>A)
c.2419C>A (p.Arg807Ser)
n.452C>A
c.2218C>A (p.Arg740Ser)
c.2239C>A (p.Arg747Ser)
c.2548C>A (p.Arg850Ser)
c.2437C>A (p.Arg813Ser)
c.2467C>A (p.Arg823Ser)
c.2224C>A (p.Arg742Ser)
3g.47848228C>GCA352590294DHX30c.2335C>G (p.Arg779Gly)
c.2251C>G (p.Arg751Gly)
c.*2235C>G (n.*2235C>G)
c.2419C>G (p.Arg807Gly)
n.452C>G
c.2218C>G (p.Arg740Gly)
c.2239C>G (p.Arg747Gly)
c.2548C>G (p.Arg850Gly)
c.2437C>G (p.Arg813Gly)
c.2467C>G (p.Arg823Gly)
c.2224C>G (p.Arg742Gly)
3g.47848228C>TCA352590296DHX30c.2335C>T (p.Arg779Cys)
c.2251C>T (p.Arg751Cys)
c.*2235C>T (n.*2235C>T)
c.2419C>T (p.Arg807Cys)
n.452C>T
c.2218C>T (p.Arg740Cys)
c.2239C>T (p.Arg747Cys)
c.2548C>T (p.Arg850Cys)
c.2437C>T (p.Arg813Cys)
c.2467C>T (p.Arg823Cys)
c.2224C>T (p.Arg742Cys)
 ClinVar gnomAD v4
3g.47848229G>ACA352590302DHX30c.2336G>A (p.Arg779His)
c.2252G>A (p.Arg751His)
c.*2236G>A (n.*2236G>A)
c.2420G>A (p.Arg807His)
n.453G>A
c.2219G>A (p.Arg740His)
c.2240G>A (p.Arg747His)
c.2549G>A (p.Arg850His)
c.2438G>A (p.Arg813His)
c.2468G>A (p.Arg823His)
c.2225G>A (p.Arg742His)
3g.47848229G>CCA352590298DHX30c.2336G>C (p.Arg779Pro)
c.2252G>C (p.Arg751Pro)
c.*2236G>C (n.*2236G>C)
c.2420G>C (p.Arg807Pro)
n.453G>C
c.2219G>C (p.Arg740Pro)
c.2240G>C (p.Arg747Pro)
c.2549G>C (p.Arg850Pro)
c.2438G>C (p.Arg813Pro)
c.2468G>C (p.Arg823Pro)
c.2225G>C (p.Arg742Pro)
3g.47848229G>TCA352590300DHX30c.2336G>T (p.Arg779Leu)
c.2252G>T (p.Arg751Leu)
c.*2236G>T (n.*2236G>T)
c.2420G>T (p.Arg807Leu)
n.453G>T
c.2219G>T (p.Arg740Leu)
c.2240G>T (p.Arg747Leu)
c.2549G>T (p.Arg850Leu)
c.2438G>T (p.Arg813Leu)
c.2468G>T (p.Arg823Leu)
c.2225G>T (p.Arg742Leu)
3g.47848230C>ACA433608751DHX30c.2337C>A (p.Arg779=)
c.2253C>A (p.Arg751=)
c.*2237C>A (n.*2237C>A)
c.2421C>A (p.Arg807=)
n.454C>A
c.2220C>A (p.Arg740=)
c.2241C>A (p.Arg747=)
c.2550C>A (p.Arg850=)
c.2439C>A (p.Arg813=)
c.2469C>A (p.Arg823=)
c.2226C>A (p.Arg742=)
3g.47848230C=CA1362750219DHX30c.2337C= (p.Arg779=)
c.2253C= (p.Arg751=)
c.*2237C= (n.*2237C=)
c.2421C= (p.Arg807=)
n.454C=
c.2220C= (p.Arg740=)
c.2241C= (p.Arg747=)
c.2550C= (p.Arg850=)
c.2439C= (p.Arg813=)
c.2469C= (p.Arg823=)
c.2226C= (p.Arg742=)
3g.47848230C>GCA433608752DHX30c.2337C>G (p.Arg779=)
c.2253C>G (p.Arg751=)
c.*2237C>G (n.*2237C>G)
c.2421C>G (p.Arg807=)
n.454C>G
c.2220C>G (p.Arg740=)
c.2241C>G (p.Arg747=)
c.2550C>G (p.Arg850=)
c.2439C>G (p.Arg813=)
c.2469C>G (p.Arg823=)
c.2226C>G (p.Arg742=)
3g.47848230C>TCA433608753DHX30c.2337C>T (p.Arg779=)
c.2253C>T (p.Arg751=)
c.*2237C>T (n.*2237C>T)
c.2421C>T (p.Arg807=)
n.454C>T
c.2220C>T (p.Arg740=)
c.2241C>T (p.Arg747=)
c.2550C>T (p.Arg850=)
c.2439C>T (p.Arg813=)
c.2469C>T (p.Arg823=)
c.2226C>T (p.Arg742=)
 dbSNP gnomAD v3 gnomAD v4
3g.47848231dupCA2841435348DHX30c.2338dup (p.Arg780ProfsTer?)
c.2254dup (p.Arg752ProfsTer?)
c.*2238dup (n.*2238dup)
c.2422dup (p.Arg808ProfsTer?)
n.455dup
c.2221dup (p.Arg741ProfsTer?)
c.2242dup (p.Arg748ProfsTer?)
c.2551dup (p.Arg851ProfsTer?)
c.2440dup (p.Arg814ProfsTer?)
c.2470dup (p.Arg824ProfsTer?)
c.2227dup (p.Arg743ProfsTer?)
3g.47848231C>ACA433608754DHX30c.2338C>A (p.Arg780=)
c.2254C>A (p.Arg752=)
c.*2238C>A (n.*2238C>A)
c.2422C>A (p.Arg808=)
n.455C>A
c.2221C>A (p.Arg741=)
c.2242C>A (p.Arg748=)
c.2551C>A (p.Arg851=)
c.2440C>A (p.Arg814=)
c.2470C>A (p.Arg824=)
c.2227C>A (p.Arg743=)
3g.47848231C>GCA352590304DHX30c.2338C>G (p.Arg780Gly)
c.2254C>G (p.Arg752Gly)
c.*2238C>G (n.*2238C>G)
c.2422C>G (p.Arg808Gly)
n.455C>G
c.2221C>G (p.Arg741Gly)
c.2242C>G (p.Arg748Gly)
c.2551C>G (p.Arg851Gly)
c.2440C>G (p.Arg814Gly)
c.2470C>G (p.Arg824Gly)
c.2227C>G (p.Arg743Gly)
3g.47848231C>TCA352590306DHX30c.2338C>T (p.Arg780Trp)
c.2254C>T (p.Arg752Trp)
c.*2238C>T (n.*2238C>T)
c.2422C>T (p.Arg808Trp)
n.455C>T
c.2221C>T (p.Arg741Trp)
c.2242C>T (p.Arg748Trp)
c.2551C>T (p.Arg851Trp)
c.2440C>T (p.Arg814Trp)
c.2470C>T (p.Arg824Trp)
c.2227C>T (p.Arg743Trp)
 gnomAD v4 COSMIC
3g.47848232G>ACA2370108DHX30c.2339G>A (p.Arg780Gln)
c.2255G>A (p.Arg752Gln)
c.*2239G>A (n.*2239G>A)
c.2423G>A (p.Arg808Gln)
n.456G>A
c.2222G>A (p.Arg741Gln)
c.2243G>A (p.Arg748Gln)
c.2552G>A (p.Arg851Gln)
c.2441G>A (p.Arg814Gln)
c.2471G>A (p.Arg824Gln)
c.2228G>A (p.Arg743Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848232G>CCA352590309DHX30c.2339G>C (p.Arg780Pro)
c.2255G>C (p.Arg752Pro)
c.*2239G>C (n.*2239G>C)
c.2423G>C (p.Arg808Pro)
n.456G>C
c.2222G>C (p.Arg741Pro)
c.2243G>C (p.Arg748Pro)
c.2552G>C (p.Arg851Pro)
c.2441G>C (p.Arg814Pro)
c.2471G>C (p.Arg824Pro)
c.2228G>C (p.Arg743Pro)
3g.47848232G=CA1362750220DHX30c.2339G= (p.Arg780=)
c.2255G= (p.Arg752=)
c.*2239G= (n.*2239G=)
c.2423G= (p.Arg808=)
n.456G=
c.2222G= (p.Arg741=)
c.2243G= (p.Arg748=)
c.2552G= (p.Arg851=)
c.2441G= (p.Arg814=)
c.2471G= (p.Arg824=)
c.2228G= (p.Arg743=)
3g.47848232G>TCA352590310DHX30c.2339G>T (p.Arg780Leu)
c.2255G>T (p.Arg752Leu)
c.*2239G>T (n.*2239G>T)
c.2423G>T (p.Arg808Leu)
n.456G>T
c.2222G>T (p.Arg741Leu)
c.2243G>T (p.Arg748Leu)
c.2552G>T (p.Arg851Leu)
c.2441G>T (p.Arg814Leu)
c.2471G>T (p.Arg824Leu)
c.2228G>T (p.Arg743Leu)
3g.47848233G>ACA433608756DHX30c.2340G>A (p.Arg780=)
c.2256G>A (p.Arg752=)
c.*2240G>A (n.*2240G>A)
c.2424G>A (p.Arg808=)
n.457G>A
c.2223G>A (p.Arg741=)
c.2244G>A (p.Arg748=)
c.2553G>A (p.Arg851=)
c.2442G>A (p.Arg814=)
c.2472G>A (p.Arg824=)
c.2229G>A (p.Arg743=)
 dbSNP gnomAD v3 gnomAD v4
3g.47848233G>CCA433608757DHX30c.2340G>C (p.Arg780=)
c.2256G>C (p.Arg752=)
c.*2240G>C (n.*2240G>C)
c.2424G>C (p.Arg808=)
n.457G>C
c.2223G>C (p.Arg741=)
c.2244G>C (p.Arg748=)
c.2553G>C (p.Arg851=)
c.2442G>C (p.Arg814=)
c.2472G>C (p.Arg824=)
c.2229G>C (p.Arg743=)
3g.47848233G=CA1362750221DHX30c.2340G= (p.Arg780=)
c.2256G= (p.Arg752=)
c.*2240G= (n.*2240G=)
c.2424G= (p.Arg808=)
n.457G=
c.2223G= (p.Arg741=)
c.2244G= (p.Arg748=)
c.2553G= (p.Arg851=)
c.2442G= (p.Arg814=)
c.2472G= (p.Arg824=)
c.2229G= (p.Arg743=)
3g.47848233G>TCA433608759DHX30c.2340G>T (p.Arg780=)
c.2256G>T (p.Arg752=)
c.*2240G>T (n.*2240G>T)
c.2424G>T (p.Arg808=)
n.457G>T
c.2223G>T (p.Arg741=)
c.2244G>T (p.Arg748=)
c.2553G>T (p.Arg851=)
c.2442G>T (p.Arg814=)
c.2472G>T (p.Arg824=)
c.2229G>T (p.Arg743=)
3g.47848234G>ACA352590316DHX30c.2341G>A (p.Gly781Ser)
c.2257G>A (p.Gly753Ser)
c.*2241G>A (n.*2241G>A)
c.2425G>A (p.Gly809Ser)
n.458G>A
c.2224G>A (p.Gly742Ser)
c.2245G>A (p.Gly749Ser)
c.2554G>A (p.Gly852Ser)
c.2443G>A (p.Gly815Ser)
c.2473G>A (p.Gly825Ser)
c.2230G>A (p.Gly744Ser)
3g.47848234G>CCA352590314DHX30c.2341G>C (p.Gly781Arg)
c.2257G>C (p.Gly753Arg)
c.*2241G>C (n.*2241G>C)
c.2425G>C (p.Gly809Arg)
n.458G>C
c.2224G>C (p.Gly742Arg)
c.2245G>C (p.Gly749Arg)
c.2554G>C (p.Gly852Arg)
c.2443G>C (p.Gly815Arg)
c.2473G>C (p.Gly825Arg)
c.2230G>C (p.Gly744Arg)
3g.47848234G>TCA352590313DHX30c.2341G>T (p.Gly781Cys)
c.2257G>T (p.Gly753Cys)
c.*2241G>T (n.*2241G>T)
c.2425G>T (p.Gly809Cys)
n.458G>T
c.2224G>T (p.Gly742Cys)
c.2245G>T (p.Gly749Cys)
c.2554G>T (p.Gly852Cys)
c.2443G>T (p.Gly815Cys)
c.2473G>T (p.Gly825Cys)
c.2230G>T (p.Gly744Cys)
3g.47848235G>ACA352590318DHX30c.2342G>A (p.Gly781Asp)
c.2258G>A (p.Gly753Asp)
c.*2242G>A (n.*2242G>A)
c.2426G>A (p.Gly809Asp)
n.459G>A
c.2225G>A (p.Gly742Asp)
c.2246G>A (p.Gly749Asp)
c.2555G>A (p.Gly852Asp)
c.2444G>A (p.Gly815Asp)
c.2474G>A (p.Gly825Asp)
c.2231G>A (p.Gly744Asp)
 ClinVar dbSNP
3g.47848235G>CCA352590321DHX30c.2342G>C (p.Gly781Ala)
c.2258G>C (p.Gly753Ala)
c.*2242G>C (n.*2242G>C)
c.2426G>C (p.Gly809Ala)
n.459G>C
c.2225G>C (p.Gly742Ala)
c.2246G>C (p.Gly749Ala)
c.2555G>C (p.Gly852Ala)
c.2444G>C (p.Gly815Ala)
c.2474G>C (p.Gly825Ala)
c.2231G>C (p.Gly744Ala)
3g.47848235G=CA1362750222DHX30c.2342G= (p.Gly781=)
c.2258G= (p.Gly753=)
c.*2242G= (n.*2242G=)
c.2426G= (p.Gly809=)
n.459G=
c.2225G= (p.Gly742=)
c.2246G= (p.Gly749=)
c.2555G= (p.Gly852=)
c.2444G= (p.Gly815=)
c.2474G= (p.Gly825=)
c.2231G= (p.Gly744=)
3g.47848235G>TCA352590319DHX30c.2342G>T (p.Gly781Val)
c.2258G>T (p.Gly753Val)
c.*2242G>T (n.*2242G>T)
c.2426G>T (p.Gly809Val)
n.459G>T
c.2225G>T (p.Gly742Val)
c.2246G>T (p.Gly749Val)
c.2555G>T (p.Gly852Val)
c.2444G>T (p.Gly815Val)
c.2474G>T (p.Gly825Val)
c.2231G>T (p.Gly744Val)
3g.47848236C>ACA433608762DHX30c.2343C>A (p.Gly781=)
c.2259C>A (p.Gly753=)
c.*2243C>A (n.*2243C>A)
c.2427C>A (p.Gly809=)
n.460C>A
c.2226C>A (p.Gly742=)
c.2247C>A (p.Gly749=)
c.2556C>A (p.Gly852=)
c.2445C>A (p.Gly815=)
c.2475C>A (p.Gly825=)
c.2232C>A (p.Gly744=)
3g.47848236C=CA1362750223DHX30c.2343C= (p.Gly781=)
c.2259C= (p.Gly753=)
c.*2243C= (n.*2243C=)
c.2427C= (p.Gly809=)
n.460C=
c.2226C= (p.Gly742=)
c.2247C= (p.Gly749=)
c.2556C= (p.Gly852=)
c.2445C= (p.Gly815=)
c.2475C= (p.Gly825=)
c.2232C= (p.Gly744=)
3g.47848236C>GCA433608763DHX30c.2343C>G (p.Gly781=)
c.2259C>G (p.Gly753=)
c.*2243C>G (n.*2243C>G)
c.2427C>G (p.Gly809=)
n.460C>G
c.2226C>G (p.Gly742=)
c.2247C>G (p.Gly749=)
c.2556C>G (p.Gly852=)
c.2445C>G (p.Gly815=)
c.2475C>G (p.Gly825=)
c.2232C>G (p.Gly744=)
3g.47848236C>TCA2370109DHX30c.2343C>T (p.Gly781=)
c.2259C>T (p.Gly753=)
c.*2243C>T (n.*2243C>T)
c.2427C>T (p.Gly809=)
n.460C>T
c.2226C>T (p.Gly742=)
c.2247C>T (p.Gly749=)
c.2556C>T (p.Gly852=)
c.2445C>T (p.Gly815=)
c.2475C>T (p.Gly825=)
c.2232C>T (p.Gly744=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848237C>ACA2370110DHX30c.2344C>A (p.Arg782=)
c.2260C>A (p.Arg754=)
c.*2244C>A (n.*2244C>A)
c.2428C>A (p.Arg810=)
n.461C>A
c.2227C>A (p.Arg743=)
c.2248C>A (p.Arg750=)
c.2557C>A (p.Arg853=)
c.2446C>A (p.Arg816=)
c.2476C>A (p.Arg826=)
c.2233C>A (p.Arg745=)
 dbSNP ExAC gnomAD v2
3g.47848237C=CA1362750224DHX30c.2344C= (p.Arg782=)
c.2260C= (p.Arg754=)
c.*2244C= (n.*2244C=)
c.2428C= (p.Arg810=)
n.461C=
c.2227C= (p.Arg743=)
c.2248C= (p.Arg750=)
c.2557C= (p.Arg853=)
c.2446C= (p.Arg816=)
c.2476C= (p.Arg826=)
c.2233C= (p.Arg745=)
3g.47848237C>GCA352590323DHX30c.2344C>G (p.Arg782Gly)
c.2260C>G (p.Arg754Gly)
c.*2244C>G (n.*2244C>G)
c.2428C>G (p.Arg810Gly)
n.461C>G
c.2227C>G (p.Arg743Gly)
c.2248C>G (p.Arg750Gly)
c.2557C>G (p.Arg853Gly)
c.2446C>G (p.Arg816Gly)
c.2476C>G (p.Arg826Gly)
c.2233C>G (p.Arg745Gly)
3g.47848237C>TCA16044218DHX30c.2344C>T (p.Arg782Trp)
c.2260C>T (p.Arg754Trp)
c.*2244C>T (n.*2244C>T)
c.2428C>T (p.Arg810Trp)
n.461C>T
c.2227C>T (p.Arg743Trp)
c.2248C>T (p.Arg750Trp)
c.2557C>T (p.Arg853Trp)
c.2446C>T (p.Arg816Trp)
c.2476C>T (p.Arg826Trp)
c.2233C>T (p.Arg745Trp)
 ClinVar dbSNP COSMIC
3g.47848238G>ACA352590327DHX30c.2345G>A (p.Arg782Gln)
c.2261G>A (p.Arg754Gln)
c.*2245G>A (n.*2245G>A)
c.2429G>A (p.Arg810Gln)
n.462G>A
c.2228G>A (p.Arg743Gln)
c.2249G>A (p.Arg750Gln)
c.2558G>A (p.Arg853Gln)
c.2447G>A (p.Arg816Gln)
c.2477G>A (p.Arg826Gln)
c.2234G>A (p.Arg745Gln)
 ClinVar dbSNP
3g.47848238G>CCA352590329DHX30c.2345G>C (p.Arg782Pro)
c.2261G>C (p.Arg754Pro)
c.*2245G>C (n.*2245G>C)
c.2429G>C (p.Arg810Pro)
n.462G>C
c.2228G>C (p.Arg743Pro)
c.2249G>C (p.Arg750Pro)
c.2558G>C (p.Arg853Pro)
c.2447G>C (p.Arg816Pro)
c.2477G>C (p.Arg826Pro)
c.2234G>C (p.Arg745Pro)
 ClinVar
3g.47848238G=CA1362750225DHX30c.2345G= (p.Arg782=)
c.2261G= (p.Arg754=)
c.*2245G= (n.*2245G=)
c.2429G= (p.Arg810=)
n.462G=
c.2228G= (p.Arg743=)
c.2249G= (p.Arg750=)
c.2558G= (p.Arg853=)
c.2447G= (p.Arg816=)
c.2477G= (p.Arg826=)
c.2234G= (p.Arg745=)
3g.47848238G>TCA352590331DHX30c.2345G>T (p.Arg782Leu)
c.2261G>T (p.Arg754Leu)
c.*2245G>T (n.*2245G>T)
c.2429G>T (p.Arg810Leu)
n.462G>T
c.2228G>T (p.Arg743Leu)
c.2249G>T (p.Arg750Leu)
c.2558G>T (p.Arg853Leu)
c.2447G>T (p.Arg816Leu)
c.2477G>T (p.Arg826Leu)
c.2234G>T (p.Arg745Leu)
3g.47848240dupCA2838514838DHX30c.2347dup (p.Ala783GlyfsTer?)
c.2263dup (p.Ala755GlyfsTer?)
c.*2247dup (n.*2247dup)
c.2431dup (p.Ala811GlyfsTer?)
n.464dup
c.2230dup (p.Ala744GlyfsTer?)
c.2251dup (p.Ala751GlyfsTer?)
c.2560dup (p.Ala854GlyfsTer?)
c.2449dup (p.Ala817GlyfsTer?)
c.2479dup (p.Ala827GlyfsTer?)
c.2236dup (p.Ala746GlyfsTer?)
3g.47848239G>ACA433608766DHX30c.2346G>A (p.Arg782=)
c.2262G>A (p.Arg754=)
c.*2246G>A (n.*2246G>A)
c.2430G>A (p.Arg810=)
n.463G>A
c.2229G>A (p.Arg743=)
c.2250G>A (p.Arg750=)
c.2559G>A (p.Arg853=)
c.2448G>A (p.Arg816=)
c.2478G>A (p.Arg826=)
c.2235G>A (p.Arg745=)
 dbSNP
3g.47848239G>CCA433608767DHX30c.2346G>C (p.Arg782=)
c.2262G>C (p.Arg754=)
c.*2246G>C (n.*2246G>C)
c.2430G>C (p.Arg810=)
n.463G>C
c.2229G>C (p.Arg743=)
c.2250G>C (p.Arg750=)
c.2559G>C (p.Arg853=)
c.2448G>C (p.Arg816=)
c.2478G>C (p.Arg826=)
c.2235G>C (p.Arg745=)
3g.47848239G=CA1362750226DHX30c.2346G= (p.Arg782=)
c.2262G= (p.Arg754=)
c.*2246G= (n.*2246G=)
c.2430G= (p.Arg810=)
n.463G=
c.2229G= (p.Arg743=)
c.2250G= (p.Arg750=)
c.2559G= (p.Arg853=)
c.2448G= (p.Arg816=)
c.2478G= (p.Arg826=)
c.2235G= (p.Arg745=)
3g.47848239G>TCA433608769DHX30c.2346G>T (p.Arg782=)
c.2262G>T (p.Arg754=)
c.*2246G>T (n.*2246G>T)
c.2430G>T (p.Arg810=)
n.463G>T
c.2229G>T (p.Arg743=)
c.2250G>T (p.Arg750=)
c.2559G>T (p.Arg853=)
c.2448G>T (p.Arg816=)
c.2478G>T (p.Arg826=)
c.2235G>T (p.Arg745=)
3g.47848240G>ACA352590333DHX30c.2347G>A (p.Ala783Thr)
c.2263G>A (p.Ala755Thr)
c.*2247G>A (n.*2247G>A)
c.2431G>A (p.Ala811Thr)
n.464G>A
c.2230G>A (p.Ala744Thr)
c.2251G>A (p.Ala751Thr)
c.2560G>A (p.Ala854Thr)
c.2449G>A (p.Ala817Thr)
c.2479G>A (p.Ala827Thr)
c.2236G>A (p.Ala746Thr)
3g.47848240G>CCA352590335DHX30c.2347G>C (p.Ala783Pro)
c.2263G>C (p.Ala755Pro)
c.*2247G>C (n.*2247G>C)
c.2431G>C (p.Ala811Pro)
n.464G>C
c.2230G>C (p.Ala744Pro)
c.2251G>C (p.Ala751Pro)
c.2560G>C (p.Ala854Pro)
c.2449G>C (p.Ala817Pro)
c.2479G>C (p.Ala827Pro)
c.2236G>C (p.Ala746Pro)
3g.47848240G>TCA352590337DHX30c.2347G>T (p.Ala783Ser)
c.2263G>T (p.Ala755Ser)
c.*2247G>T (n.*2247G>T)
c.2431G>T (p.Ala811Ser)
n.464G>T
c.2230G>T (p.Ala744Ser)
c.2251G>T (p.Ala751Ser)
c.2560G>T (p.Ala854Ser)
c.2449G>T (p.Ala817Ser)
c.2479G>T (p.Ala827Ser)
c.2236G>T (p.Ala746Ser)
3g.47848241C>ACA352590339DHX30c.2348C>A (p.Ala783Glu)
c.2264C>A (p.Ala755Glu)
c.*2248C>A (n.*2248C>A)
c.2432C>A (p.Ala811Glu)
n.465C>A
c.2231C>A (p.Ala744Glu)
c.2252C>A (p.Ala751Glu)
c.2561C>A (p.Ala854Glu)
c.2450C>A (p.Ala817Glu)
c.2480C>A (p.Ala827Glu)
c.2237C>A (p.Ala746Glu)
3g.47848241C>GCA352590340DHX30c.2348C>G (p.Ala783Gly)
c.2264C>G (p.Ala755Gly)
c.*2248C>G (n.*2248C>G)
c.2432C>G (p.Ala811Gly)
n.465C>G
c.2231C>G (p.Ala744Gly)
c.2252C>G (p.Ala751Gly)
c.2561C>G (p.Ala854Gly)
c.2450C>G (p.Ala817Gly)
c.2480C>G (p.Ala827Gly)
c.2237C>G (p.Ala746Gly)
3g.47848241C>TCA352590341DHX30c.2348C>T (p.Ala783Val)
c.2264C>T (p.Ala755Val)
c.*2248C>T (n.*2248C>T)
c.2432C>T (p.Ala811Val)
n.465C>T
c.2231C>T (p.Ala744Val)
c.2252C>T (p.Ala751Val)
c.2561C>T (p.Ala854Val)
c.2450C>T (p.Ala817Val)
c.2480C>T (p.Ala827Val)
c.2237C>T (p.Ala746Val)
 gnomAD v4
3g.47848242G>ACA2370111DHX30c.2349G>A (p.Ala783=)
c.2265G>A (p.Ala755=)
c.*2249G>A (n.*2249G>A)
c.2433G>A (p.Ala811=)
n.466G>A
c.2232G>A (p.Ala744=)
c.2253G>A (p.Ala751=)
c.2562G>A (p.Ala854=)
c.2451G>A (p.Ala817=)
c.2481G>A (p.Ala827=)
c.2238G>A (p.Ala746=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47848242G>CCA433608771DHX30c.2349G>C (p.Ala783=)
c.2265G>C (p.Ala755=)
c.*2249G>C (n.*2249G>C)
c.2433G>C (p.Ala811=)
n.466G>C
c.2232G>C (p.Ala744=)
c.2253G>C (p.Ala751=)
c.2562G>C (p.Ala854=)
c.2451G>C (p.Ala817=)
c.2481G>C (p.Ala827=)
c.2238G>C (p.Ala746=)
3g.47848242G=CA1362750227DHX30c.2349G= (p.Ala783=)
c.2265G= (p.Ala755=)
c.*2249G= (n.*2249G=)
c.2433G= (p.Ala811=)
n.466G=
c.2232G= (p.Ala744=)
c.2253G= (p.Ala751=)
c.2562G= (p.Ala854=)
c.2451G= (p.Ala817=)
c.2481G= (p.Ala827=)
c.2238G= (p.Ala746=)
3g.47848242G>TCA2370112DHX30c.2349G>T (p.Ala783=)
c.2265G>T (p.Ala755=)
c.*2249G>T (n.*2249G>T)
c.2433G>T (p.Ala811=)
n.466G>T
c.2232G>T (p.Ala744=)
c.2253G>T (p.Ala751=)
c.2562G>T (p.Ala854=)
c.2451G>T (p.Ala817=)
c.2481G>T (p.Ala827=)
c.2238G>T (p.Ala746=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47848244delCA2841435349DHX30c.2351del (p.Gly784AlafsTer?)
c.2267del (p.Gly756AlafsTer?)
c.*2251del (n.*2251del)
c.2435del (p.Gly812AlafsTer?)
n.468del
c.2234del (p.Gly745AlafsTer?)
c.2255del (p.Gly752AlafsTer?)
c.2564del (p.Gly855AlafsTer?)
c.2453del (p.Gly818AlafsTer?)
c.2483del (p.Gly828AlafsTer?)
c.2240del (p.Gly747AlafsTer?)
3g.47848243G>ACA352590350DHX30c.2350G>A (p.Gly784Ser)
c.2266G>A (p.Gly756Ser)
c.*2250G>A (n.*2250G>A)
c.2434G>A (p.Gly812Ser)
n.467G>A
c.2233G>A (p.Gly745Ser)
c.2254G>A (p.Gly752Ser)
c.2563G>A (p.Gly855Ser)
c.2452G>A (p.Gly818Ser)
c.2482G>A (p.Gly828Ser)
c.2239G>A (p.Gly747Ser)
3g.47848243G>CCA352590354DHX30c.2350G>C (p.Gly784Arg)
c.2266G>C (p.Gly756Arg)
c.*2250G>C (n.*2250G>C)
c.2434G>C (p.Gly812Arg)
n.467G>C
c.2233G>C (p.Gly745Arg)
c.2254G>C (p.Gly752Arg)
c.2563G>C (p.Gly855Arg)
c.2452G>C (p.Gly818Arg)
c.2482G>C (p.Gly828Arg)
c.2239G>C (p.Gly747Arg)
3g.47848243G>TCA352590352DHX30c.2350G>T (p.Gly784Cys)
c.2266G>T (p.Gly756Cys)
c.*2250G>T (n.*2250G>T)
c.2434G>T (p.Gly812Cys)
n.467G>T
c.2233G>T (p.Gly745Cys)
c.2254G>T (p.Gly752Cys)
c.2563G>T (p.Gly855Cys)
c.2452G>T (p.Gly818Cys)
c.2482G>T (p.Gly828Cys)
c.2239G>T (p.Gly747Cys)
3g.47848244G>ACA352590356DHX30c.2351G>A (p.Gly784Asp)
c.2267G>A (p.Gly756Asp)
c.*2251G>A (n.*2251G>A)
c.2435G>A (p.Gly812Asp)
n.468G>A
c.2234G>A (p.Gly745Asp)
c.2255G>A (p.Gly752Asp)
c.2564G>A (p.Gly855Asp)
c.2453G>A (p.Gly818Asp)
c.2483G>A (p.Gly828Asp)
c.2240G>A (p.Gly747Asp)
3g.47848244G>CCA352590357DHX30c.2351G>C (p.Gly784Ala)
c.2267G>C (p.Gly756Ala)
c.*2251G>C (n.*2251G>C)
c.2435G>C (p.Gly812Ala)
n.468G>C
c.2234G>C (p.Gly745Ala)
c.2255G>C (p.Gly752Ala)
c.2564G>C (p.Gly855Ala)
c.2453G>C (p.Gly818Ala)
c.2483G>C (p.Gly828Ala)
c.2240G>C (p.Gly747Ala)
3g.47848244G>TCA352590359DHX30c.2351G>T (p.Gly784Val)
c.2267G>T (p.Gly756Val)
c.*2251G>T (n.*2251G>T)
c.2435G>T (p.Gly812Val)
n.468G>T
c.2234G>T (p.Gly745Val)
c.2255G>T (p.Gly752Val)
c.2564G>T (p.Gly855Val)
c.2453G>T (p.Gly818Val)
c.2483G>T (p.Gly828Val)
c.2240G>T (p.Gly747Val)
3g.47848245C>ACA433608777DHX30c.2352C>A (p.Gly784=)
c.2268C>A (p.Gly756=)
c.*2252C>A (n.*2252C>A)
c.2436C>A (p.Gly812=)
n.469C>A
c.2235C>A (p.Gly745=)
c.2256C>A (p.Gly752=)
c.2565C>A (p.Gly855=)
c.2454C>A (p.Gly818=)
c.2484C>A (p.Gly828=)
c.2241C>A (p.Gly747=)
3g.47848245C>GCA433608775DHX30c.2352C>G (p.Gly784=)
c.2268C>G (p.Gly756=)
c.*2252C>G (n.*2252C>G)
c.2436C>G (p.Gly812=)
n.469C>G
c.2235C>G (p.Gly745=)
c.2256C>G (p.Gly752=)
c.2565C>G (p.Gly855=)
c.2454C>G (p.Gly818=)
c.2484C>G (p.Gly828=)
c.2241C>G (p.Gly747=)
3g.47848245C>TCA433608776DHX30c.2352C>T (p.Gly784=)
c.2268C>T (p.Gly756=)
c.*2252C>T (n.*2252C>T)
c.2436C>T (p.Gly812=)
n.469C>T
c.2235C>T (p.Gly745=)
c.2256C>T (p.Gly752=)
c.2565C>T (p.Gly855=)
c.2454C>T (p.Gly818=)
c.2484C>T (p.Gly828=)
c.2241C>T (p.Gly747=)
 gnomAD v4
3g.47848246C>ACA352590362DHX30c.2353C>A (p.Arg785Ser)
c.2269C>A (p.Arg757Ser)
c.*2253C>A (n.*2253C>A)
c.2437C>A (p.Arg813Ser)
n.470C>A
c.2236C>A (p.Arg746Ser)
c.2257C>A (p.Arg753Ser)
c.2566C>A (p.Arg856Ser)
c.2455C>A (p.Arg819Ser)
c.2485C>A (p.Arg829Ser)
c.2242C>A (p.Arg748Ser)
3g.47848246C=CA1362750228DHX30c.2353C= (p.Arg785=)
c.2269C= (p.Arg757=)
c.*2253C= (n.*2253C=)
c.2437C= (p.Arg813=)
n.470C=
c.2236C= (p.Arg746=)
c.2257C= (p.Arg753=)
c.2566C= (p.Arg856=)
c.2455C= (p.Arg819=)
c.2485C= (p.Arg829=)
c.2242C= (p.Arg748=)
3g.47848246C>GCA352590363DHX30c.2353C>G (p.Arg785Gly)
c.2269C>G (p.Arg757Gly)
c.*2253C>G (n.*2253C>G)
c.2437C>G (p.Arg813Gly)
n.470C>G
c.2236C>G (p.Arg746Gly)
c.2257C>G (p.Arg753Gly)
c.2566C>G (p.Arg856Gly)
c.2455C>G (p.Arg819Gly)
c.2485C>G (p.Arg829Gly)
c.2242C>G (p.Arg748Gly)
3g.47848246C>TCA352590365DHX30c.2353C>T (p.Arg785Cys)
c.2269C>T (p.Arg757Cys)
c.*2253C>T (n.*2253C>T)
c.2437C>T (p.Arg813Cys)
n.470C>T
c.2236C>T (p.Arg746Cys)
c.2257C>T (p.Arg753Cys)
c.2566C>T (p.Arg856Cys)
c.2455C>T (p.Arg819Cys)
c.2485C>T (p.Arg829Cys)
c.2242C>T (p.Arg748Cys)
 ClinVar dbSNP

Number of alleles fetched