Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.74046655G>ACA575345253ELNc.572-41G>A (n.572-41G>A)
c.506-41G>A (n.506-41G>A)
c.587-41G>A (n.587-41G>A)
c.263-41G>A (n.263-41G>A)
c.542-41G>A (n.542-41G>A)
c.557-41G>A (n.557-41G>A)
c.470-41G>A (n.470-41G>A)
c.326-41G>A (n.326-41G>A)
c.197-41G>A (n.197-41G>A)
c.458-41G>A (n.458-41G>A)
n.456-41G>A
c.440-41G>A (n.440-41G>A)
c.536-41G>A (n.536-41G>A)
c.551-41G>A (n.551-41G>A)
c.521-41G>A (n.521-41G>A)
 dbSNP gnomAD v2 gnomAD v4
7g.74046655G=CA1717340856ELNc.572-41G= (n.572-41G=)
c.506-41G= (n.506-41G=)
c.587-41G= (n.587-41G=)
c.263-41G= (n.263-41G=)
c.542-41G= (n.542-41G=)
c.557-41G= (n.557-41G=)
c.470-41G= (n.470-41G=)
c.326-41G= (n.326-41G=)
c.197-41G= (n.197-41G=)
c.458-41G= (n.458-41G=)
n.456-41G=
c.440-41G= (n.440-41G=)
c.536-41G= (n.536-41G=)
c.551-41G= (n.551-41G=)
c.521-41G= (n.521-41G=)
7g.74046655G>TCA2578907466ELNc.572-41G>T (n.572-41G>T)
c.506-41G>T (n.506-41G>T)
c.587-41G>T (n.587-41G>T)
c.263-41G>T (n.263-41G>T)
c.542-41G>T (n.542-41G>T)
c.557-41G>T (n.557-41G>T)
c.470-41G>T (n.470-41G>T)
c.326-41G>T (n.326-41G>T)
c.197-41G>T (n.197-41G>T)
c.458-41G>T (n.458-41G>T)
n.456-41G>T
c.440-41G>T (n.440-41G>T)
c.536-41G>T (n.536-41G>T)
c.551-41G>T (n.551-41G>T)
c.521-41G>T (n.521-41G>T)
7g.74046659delCA2683267055ELNc.572-37del (n.572-37del)
c.506-37del (n.506-37del)
c.587-37del (n.587-37del)
c.263-37del (n.263-37del)
c.542-37del (n.542-37del)
c.557-37del (n.557-37del)
c.470-37del (n.470-37del)
c.326-37del (n.326-37del)
c.197-37del (n.197-37del)
c.458-37del (n.458-37del)
n.456-37del
c.440-37del (n.440-37del)
c.536-37del (n.536-37del)
c.551-37del (n.551-37del)
c.521-37del (n.521-37del)
 gnomAD v4
7g.74046656G>ACA4292570ELNc.572-40G>A (n.572-40G>A)
c.506-40G>A (n.506-40G>A)
c.587-40G>A (n.587-40G>A)
c.263-40G>A (n.263-40G>A)
c.542-40G>A (n.542-40G>A)
c.557-40G>A (n.557-40G>A)
c.470-40G>A (n.470-40G>A)
c.326-40G>A (n.326-40G>A)
c.197-40G>A (n.197-40G>A)
c.458-40G>A (n.458-40G>A)
n.456-40G>A
c.440-40G>A (n.440-40G>A)
c.536-40G>A (n.536-40G>A)
c.551-40G>A (n.551-40G>A)
c.521-40G>A (n.521-40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.74046656G>CCA4292569ELNc.572-40G>C (n.572-40G>C)
c.506-40G>C (n.506-40G>C)
c.587-40G>C (n.587-40G>C)
c.263-40G>C (n.263-40G>C)
c.542-40G>C (n.542-40G>C)
c.557-40G>C (n.557-40G>C)
c.470-40G>C (n.470-40G>C)
c.326-40G>C (n.326-40G>C)
c.197-40G>C (n.197-40G>C)
c.458-40G>C (n.458-40G>C)
n.456-40G>C
c.440-40G>C (n.440-40G>C)
c.536-40G>C (n.536-40G>C)
c.551-40G>C (n.551-40G>C)
c.521-40G>C (n.521-40G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046656G=CA1717340857ELNc.572-40G= (n.572-40G=)
c.506-40G= (n.506-40G=)
c.587-40G= (n.587-40G=)
c.263-40G= (n.263-40G=)
c.542-40G= (n.542-40G=)
c.557-40G= (n.557-40G=)
c.470-40G= (n.470-40G=)
c.326-40G= (n.326-40G=)
c.197-40G= (n.197-40G=)
c.458-40G= (n.458-40G=)
n.456-40G=
c.440-40G= (n.440-40G=)
c.536-40G= (n.536-40G=)
c.551-40G= (n.551-40G=)
c.521-40G= (n.521-40G=)
7g.74046656G>TCA4292568ELNc.572-40G>T (n.572-40G>T)
c.506-40G>T (n.506-40G>T)
c.587-40G>T (n.587-40G>T)
c.263-40G>T (n.263-40G>T)
c.542-40G>T (n.542-40G>T)
c.557-40G>T (n.557-40G>T)
c.470-40G>T (n.470-40G>T)
c.326-40G>T (n.326-40G>T)
c.197-40G>T (n.197-40G>T)
c.458-40G>T (n.458-40G>T)
n.456-40G>T
c.440-40G>T (n.440-40G>T)
c.536-40G>T (n.536-40G>T)
c.551-40G>T (n.551-40G>T)
c.521-40G>T (n.521-40G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046657G>ACA4292571ELNc.572-39G>A (n.572-39G>A)
c.506-39G>A (n.506-39G>A)
c.587-39G>A (n.587-39G>A)
c.263-39G>A (n.263-39G>A)
c.542-39G>A (n.542-39G>A)
c.557-39G>A (n.557-39G>A)
c.470-39G>A (n.470-39G>A)
c.326-39G>A (n.326-39G>A)
c.197-39G>A (n.197-39G>A)
c.458-39G>A (n.458-39G>A)
n.456-39G>A
c.440-39G>A (n.440-39G>A)
c.536-39G>A (n.536-39G>A)
c.551-39G>A (n.551-39G>A)
c.521-39G>A (n.521-39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046657G>CCA2683267058ELNc.572-39G>C (n.572-39G>C)
c.506-39G>C (n.506-39G>C)
c.587-39G>C (n.587-39G>C)
c.263-39G>C (n.263-39G>C)
c.542-39G>C (n.542-39G>C)
c.557-39G>C (n.557-39G>C)
c.470-39G>C (n.470-39G>C)
c.326-39G>C (n.326-39G>C)
c.197-39G>C (n.197-39G>C)
c.458-39G>C (n.458-39G>C)
n.456-39G>C
c.440-39G>C (n.440-39G>C)
c.536-39G>C (n.536-39G>C)
c.551-39G>C (n.551-39G>C)
c.521-39G>C (n.521-39G>C)
 gnomAD v4
7g.74046657G=CA1717340858ELNc.572-39G= (n.572-39G=)
c.506-39G= (n.506-39G=)
c.587-39G= (n.587-39G=)
c.263-39G= (n.263-39G=)
c.542-39G= (n.542-39G=)
c.557-39G= (n.557-39G=)
c.470-39G= (n.470-39G=)
c.326-39G= (n.326-39G=)
c.197-39G= (n.197-39G=)
c.458-39G= (n.458-39G=)
n.456-39G=
c.440-39G= (n.440-39G=)
c.536-39G= (n.536-39G=)
c.551-39G= (n.551-39G=)
c.521-39G= (n.521-39G=)
7g.74046658G>ACA2578907467ELNc.572-38G>A (n.572-38G>A)
c.506-38G>A (n.506-38G>A)
c.587-38G>A (n.587-38G>A)
c.263-38G>A (n.263-38G>A)
c.542-38G>A (n.542-38G>A)
c.557-38G>A (n.557-38G>A)
c.470-38G>A (n.470-38G>A)
c.326-38G>A (n.326-38G>A)
c.197-38G>A (n.197-38G>A)
c.458-38G>A (n.458-38G>A)
n.456-38G>A
c.440-38G>A (n.440-38G>A)
c.536-38G>A (n.536-38G>A)
c.551-38G>A (n.551-38G>A)
c.521-38G>A (n.521-38G>A)
7g.74046658G>CCA4292572ELNc.572-38G>C (n.572-38G>C)
c.506-38G>C (n.506-38G>C)
c.587-38G>C (n.587-38G>C)
c.263-38G>C (n.263-38G>C)
c.542-38G>C (n.542-38G>C)
c.557-38G>C (n.557-38G>C)
c.470-38G>C (n.470-38G>C)
c.326-38G>C (n.326-38G>C)
c.197-38G>C (n.197-38G>C)
c.458-38G>C (n.458-38G>C)
n.456-38G>C
c.440-38G>C (n.440-38G>C)
c.536-38G>C (n.536-38G>C)
c.551-38G>C (n.551-38G>C)
c.521-38G>C (n.521-38G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.74046658G=CA1717340859ELNc.572-38G= (n.572-38G=)
c.506-38G= (n.506-38G=)
c.587-38G= (n.587-38G=)
c.263-38G= (n.263-38G=)
c.542-38G= (n.542-38G=)
c.557-38G= (n.557-38G=)
c.470-38G= (n.470-38G=)
c.326-38G= (n.326-38G=)
c.197-38G= (n.197-38G=)
c.458-38G= (n.458-38G=)
n.456-38G=
c.440-38G= (n.440-38G=)
c.536-38G= (n.536-38G=)
c.551-38G= (n.551-38G=)
c.521-38G= (n.521-38G=)
7g.74046658G>TCA2683267059ELNc.572-38G>T (n.572-38G>T)
c.506-38G>T (n.506-38G>T)
c.587-38G>T (n.587-38G>T)
c.263-38G>T (n.263-38G>T)
c.542-38G>T (n.542-38G>T)
c.557-38G>T (n.557-38G>T)
c.470-38G>T (n.470-38G>T)
c.326-38G>T (n.326-38G>T)
c.197-38G>T (n.197-38G>T)
c.458-38G>T (n.458-38G>T)
n.456-38G>T
c.440-38G>T (n.440-38G>T)
c.536-38G>T (n.536-38G>T)
c.551-38G>T (n.551-38G>T)
c.521-38G>T (n.521-38G>T)
 gnomAD v4
7g.74046659G>ACA2578907468ELNc.572-37G>A (n.572-37G>A)
c.506-37G>A (n.506-37G>A)
c.587-37G>A (n.587-37G>A)
c.263-37G>A (n.263-37G>A)
c.542-37G>A (n.542-37G>A)
c.557-37G>A (n.557-37G>A)
c.470-37G>A (n.470-37G>A)
c.326-37G>A (n.326-37G>A)
c.197-37G>A (n.197-37G>A)
c.458-37G>A (n.458-37G>A)
n.456-37G>A
n.1G>A
c.440-37G>A (n.440-37G>A)
c.536-37G>A (n.536-37G>A)
c.551-37G>A (n.551-37G>A)
c.521-37G>A (n.521-37G>A)
7g.74046659G=CA1717340860ELNc.572-37G= (n.572-37G=)
c.506-37G= (n.506-37G=)
c.587-37G= (n.587-37G=)
c.263-37G= (n.263-37G=)
c.542-37G= (n.542-37G=)
c.557-37G= (n.557-37G=)
c.470-37G= (n.470-37G=)
c.326-37G= (n.326-37G=)
c.197-37G= (n.197-37G=)
c.458-37G= (n.458-37G=)
n.456-37G=
n.1G=
c.440-37G= (n.440-37G=)
c.536-37G= (n.536-37G=)
c.551-37G= (n.551-37G=)
c.521-37G= (n.521-37G=)
7g.74046659G>TCA4292573ELNc.572-37G>T (n.572-37G>T)
c.506-37G>T (n.506-37G>T)
c.587-37G>T (n.587-37G>T)
c.263-37G>T (n.263-37G>T)
c.542-37G>T (n.542-37G>T)
c.557-37G>T (n.557-37G>T)
c.470-37G>T (n.470-37G>T)
c.326-37G>T (n.326-37G>T)
c.197-37G>T (n.197-37G>T)
c.458-37G>T (n.458-37G>T)
n.456-37G>T
n.1G>T
c.440-37G>T (n.440-37G>T)
c.536-37G>T (n.536-37G>T)
c.551-37G>T (n.551-37G>T)
c.521-37G>T (n.521-37G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046660T>ACA575345254ELNc.572-36T>A (n.572-36T>A)
c.506-36T>A (n.506-36T>A)
c.587-36T>A (n.587-36T>A)
c.263-36T>A (n.263-36T>A)
c.542-36T>A (n.542-36T>A)
c.557-36T>A (n.557-36T>A)
c.470-36T>A (n.470-36T>A)
c.326-36T>A (n.326-36T>A)
c.197-36T>A (n.197-36T>A)
c.458-36T>A (n.458-36T>A)
n.456-36T>A
n.2T>A
c.440-36T>A (n.440-36T>A)
c.536-36T>A (n.536-36T>A)
c.551-36T>A (n.551-36T>A)
c.521-36T>A (n.521-36T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.74046660T>GCA1717340862ELNc.572-36T>G (n.572-36T>G)
c.506-36T>G (n.506-36T>G)
c.587-36T>G (n.587-36T>G)
c.263-36T>G (n.263-36T>G)
c.542-36T>G (n.542-36T>G)
c.557-36T>G (n.557-36T>G)
c.470-36T>G (n.470-36T>G)
c.326-36T>G (n.326-36T>G)
c.197-36T>G (n.197-36T>G)
c.458-36T>G (n.458-36T>G)
n.456-36T>G
n.2T>G
c.440-36T>G (n.440-36T>G)
c.536-36T>G (n.536-36T>G)
c.551-36T>G (n.551-36T>G)
c.521-36T>G (n.521-36T>G)
 dbSNP gnomAD v4
7g.74046660T=CA1717340861ELNc.572-36T= (n.572-36T=)
c.506-36T= (n.506-36T=)
c.587-36T= (n.587-36T=)
c.263-36T= (n.263-36T=)
c.542-36T= (n.542-36T=)
c.557-36T= (n.557-36T=)
c.470-36T= (n.470-36T=)
c.326-36T= (n.326-36T=)
c.197-36T= (n.197-36T=)
c.458-36T= (n.458-36T=)
n.456-36T=
n.2T=
c.440-36T= (n.440-36T=)
c.536-36T= (n.536-36T=)
c.551-36T= (n.551-36T=)
c.521-36T= (n.521-36T=)
7g.74046664G>CCA2683267064ELNc.572-32G>C (n.572-32G>C)
c.506-32G>C (n.506-32G>C)
c.587-32G>C (n.587-32G>C)
c.263-32G>C (n.263-32G>C)
c.542-32G>C (n.542-32G>C)
c.557-32G>C (n.557-32G>C)
c.470-32G>C (n.470-32G>C)
c.326-32G>C (n.326-32G>C)
c.197-32G>C (n.197-32G>C)
c.458-32G>C (n.458-32G>C)
n.456-32G>C
n.6G>C
c.440-32G>C (n.440-32G>C)
c.536-32G>C (n.536-32G>C)
c.551-32G>C (n.551-32G>C)
c.521-32G>C (n.521-32G>C)
 gnomAD v4
7g.74046665G>ACA1103079589ELNc.572-31G>A (n.572-31G>A)
c.506-31G>A (n.506-31G>A)
c.587-31G>A (n.587-31G>A)
c.263-31G>A (n.263-31G>A)
c.542-31G>A (n.542-31G>A)
c.557-31G>A (n.557-31G>A)
c.470-31G>A (n.470-31G>A)
c.326-31G>A (n.326-31G>A)
c.197-31G>A (n.197-31G>A)
c.458-31G>A (n.458-31G>A)
n.456-31G>A
n.7G>A
c.440-31G>A (n.440-31G>A)
c.536-31G>A (n.536-31G>A)
c.551-31G>A (n.551-31G>A)
c.521-31G>A (n.521-31G>A)
 dbSNP gnomAD v3 gnomAD v4
7g.74046665G=CA1717340863ELNc.572-31G= (n.572-31G=)
c.506-31G= (n.506-31G=)
c.587-31G= (n.587-31G=)
c.263-31G= (n.263-31G=)
c.542-31G= (n.542-31G=)
c.557-31G= (n.557-31G=)
c.470-31G= (n.470-31G=)
c.326-31G= (n.326-31G=)
c.197-31G= (n.197-31G=)
c.458-31G= (n.458-31G=)
n.456-31G=
n.7G=
c.440-31G= (n.440-31G=)
c.536-31G= (n.536-31G=)
c.551-31G= (n.551-31G=)
c.521-31G= (n.521-31G=)
7g.74046665G>TCA2776471075ELNc.572-31G>T (n.572-31G>T)
c.506-31G>T (n.506-31G>T)
c.587-31G>T (n.587-31G>T)
c.263-31G>T (n.263-31G>T)
c.542-31G>T (n.542-31G>T)
c.557-31G>T (n.557-31G>T)
c.470-31G>T (n.470-31G>T)
c.326-31G>T (n.326-31G>T)
c.197-31G>T (n.197-31G>T)
c.458-31G>T (n.458-31G>T)
n.456-31G>T
n.7G>T
c.440-31G>T (n.440-31G>T)
c.536-31G>T (n.536-31G>T)
c.551-31G>T (n.551-31G>T)
c.521-31G>T (n.521-31G>T)
7g.74046667A=CA1717340864ELNc.572-29A= (n.572-29A=)
c.506-29A= (n.506-29A=)
c.587-29A= (n.587-29A=)
c.263-29A= (n.263-29A=)
c.542-29A= (n.542-29A=)
c.557-29A= (n.557-29A=)
c.470-29A= (n.470-29A=)
c.326-29A= (n.326-29A=)
c.197-29A= (n.197-29A=)
c.458-29A= (n.458-29A=)
n.456-29A=
n.9A=
c.440-29A= (n.440-29A=)
c.536-29A= (n.536-29A=)
c.551-29A= (n.551-29A=)
c.521-29A= (n.521-29A=)
7g.74046667A>GCA4292574ELNc.572-29A>G (n.572-29A>G)
c.506-29A>G (n.506-29A>G)
c.587-29A>G (n.587-29A>G)
c.263-29A>G (n.263-29A>G)
c.542-29A>G (n.542-29A>G)
c.557-29A>G (n.557-29A>G)
c.470-29A>G (n.470-29A>G)
c.326-29A>G (n.326-29A>G)
c.197-29A>G (n.197-29A>G)
c.458-29A>G (n.458-29A>G)
n.456-29A>G
n.9A>G
c.440-29A>G (n.440-29A>G)
c.536-29A>G (n.536-29A>G)
c.551-29A>G (n.551-29A>G)
c.521-29A>G (n.521-29A>G)
 dbSNP ExAC gnomAD v2
7g.74046667A>TCA842066837ELNc.572-29A>T (n.572-29A>T)
c.506-29A>T (n.506-29A>T)
c.587-29A>T (n.587-29A>T)
c.263-29A>T (n.263-29A>T)
c.542-29A>T (n.542-29A>T)
c.557-29A>T (n.557-29A>T)
c.470-29A>T (n.470-29A>T)
c.326-29A>T (n.326-29A>T)
c.197-29A>T (n.197-29A>T)
c.458-29A>T (n.458-29A>T)
n.456-29A>T
n.9A>T
c.440-29A>T (n.440-29A>T)
c.536-29A>T (n.536-29A>T)
c.551-29A>T (n.551-29A>T)
c.521-29A>T (n.521-29A>T)
 dbSNP
7g.74046668C>ACA2683267065ELNc.572-28C>A (n.572-28C>A)
c.506-28C>A (n.506-28C>A)
c.587-28C>A (n.587-28C>A)
c.263-28C>A (n.263-28C>A)
c.542-28C>A (n.542-28C>A)
c.557-28C>A (n.557-28C>A)
c.470-28C>A (n.470-28C>A)
c.326-28C>A (n.326-28C>A)
c.197-28C>A (n.197-28C>A)
c.458-28C>A (n.458-28C>A)
n.456-28C>A
n.10C>A
c.440-28C>A (n.440-28C>A)
c.536-28C>A (n.536-28C>A)
c.551-28C>A (n.551-28C>A)
c.521-28C>A (n.521-28C>A)
 gnomAD v4
7g.74046668C>TCA2683267066ELNc.572-28C>T (n.572-28C>T)
c.506-28C>T (n.506-28C>T)
c.587-28C>T (n.587-28C>T)
c.263-28C>T (n.263-28C>T)
c.542-28C>T (n.542-28C>T)
c.557-28C>T (n.557-28C>T)
c.470-28C>T (n.470-28C>T)
c.326-28C>T (n.326-28C>T)
c.197-28C>T (n.197-28C>T)
c.458-28C>T (n.458-28C>T)
n.456-28C>T
n.10C>T
c.440-28C>T (n.440-28C>T)
c.536-28C>T (n.536-28C>T)
c.551-28C>T (n.551-28C>T)
c.521-28C>T (n.521-28C>T)
 gnomAD v4
7g.74046670T>CCA4292575ELNc.572-26T>C (n.572-26T>C)
c.506-26T>C (n.506-26T>C)
c.587-26T>C (n.587-26T>C)
c.263-26T>C (n.263-26T>C)
c.542-26T>C (n.542-26T>C)
c.557-26T>C (n.557-26T>C)
c.470-26T>C (n.470-26T>C)
c.326-26T>C (n.326-26T>C)
c.197-26T>C (n.197-26T>C)
c.458-26T>C (n.458-26T>C)
n.456-26T>C
n.12T>C
c.440-26T>C (n.440-26T>C)
c.536-26T>C (n.536-26T>C)
c.551-26T>C (n.551-26T>C)
c.521-26T>C (n.521-26T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046670T=CA1717340865ELNc.572-26T= (n.572-26T=)
c.506-26T= (n.506-26T=)
c.587-26T= (n.587-26T=)
c.263-26T= (n.263-26T=)
c.542-26T= (n.542-26T=)
c.557-26T= (n.557-26T=)
c.470-26T= (n.470-26T=)
c.326-26T= (n.326-26T=)
c.197-26T= (n.197-26T=)
c.458-26T= (n.458-26T=)
n.456-26T=
n.12T=
c.440-26T= (n.440-26T=)
c.536-26T= (n.536-26T=)
c.551-26T= (n.551-26T=)
c.521-26T= (n.521-26T=)
7g.74046671G>TCA2776471076ELNc.572-25G>T (n.572-25G>T)
c.506-25G>T (n.506-25G>T)
c.587-25G>T (n.587-25G>T)
c.263-25G>T (n.263-25G>T)
c.542-25G>T (n.542-25G>T)
c.557-25G>T (n.557-25G>T)
c.470-25G>T (n.470-25G>T)
c.326-25G>T (n.326-25G>T)
c.197-25G>T (n.197-25G>T)
c.458-25G>T (n.458-25G>T)
n.456-25G>T
n.13G>T
c.440-25G>T (n.440-25G>T)
c.536-25G>T (n.536-25G>T)
c.551-25G>T (n.551-25G>T)
c.521-25G>T (n.521-25G>T)
7g.74046674C=CA1717340866ELNc.572-22C= (n.572-22C=)
c.506-22C= (n.506-22C=)
c.587-22C= (n.587-22C=)
c.263-22C= (n.263-22C=)
c.542-22C= (n.542-22C=)
c.557-22C= (n.557-22C=)
c.470-22C= (n.470-22C=)
c.326-22C= (n.326-22C=)
c.197-22C= (n.197-22C=)
c.458-22C= (n.458-22C=)
n.456-22C=
n.16C=
c.440-22C= (n.440-22C=)
c.536-22C= (n.536-22C=)
c.551-22C= (n.551-22C=)
c.521-22C= (n.521-22C=)
7g.74046674C>TCA4292576ELNc.572-22C>T (n.572-22C>T)
c.506-22C>T (n.506-22C>T)
c.587-22C>T (n.587-22C>T)
c.263-22C>T (n.263-22C>T)
c.542-22C>T (n.542-22C>T)
c.557-22C>T (n.557-22C>T)
c.470-22C>T (n.470-22C>T)
c.326-22C>T (n.326-22C>T)
c.197-22C>T (n.197-22C>T)
c.458-22C>T (n.458-22C>T)
n.456-22C>T
n.16C>T
c.440-22C>T (n.440-22C>T)
c.536-22C>T (n.536-22C>T)
c.551-22C>T (n.551-22C>T)
c.521-22C>T (n.521-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046677G>ACA1717340868ELNc.572-19G>A (n.572-19G>A)
c.506-19G>A (n.506-19G>A)
c.587-19G>A (n.587-19G>A)
c.263-19G>A (n.263-19G>A)
c.542-19G>A (n.542-19G>A)
c.557-19G>A (n.557-19G>A)
c.470-19G>A (n.470-19G>A)
c.326-19G>A (n.326-19G>A)
c.197-19G>A (n.197-19G>A)
c.458-19G>A (n.458-19G>A)
n.456-19G>A
n.19G>A
c.440-19G>A (n.440-19G>A)
c.536-19G>A (n.536-19G>A)
c.551-19G>A (n.551-19G>A)
c.521-19G>A (n.521-19G>A)
 ClinVar dbSNP gnomAD v4
7g.74046677G=CA1717340867ELNc.572-19G= (n.572-19G=)
c.506-19G= (n.506-19G=)
c.587-19G= (n.587-19G=)
c.263-19G= (n.263-19G=)
c.542-19G= (n.542-19G=)
c.557-19G= (n.557-19G=)
c.470-19G= (n.470-19G=)
c.326-19G= (n.326-19G=)
c.197-19G= (n.197-19G=)
c.458-19G= (n.458-19G=)
n.456-19G=
n.19G=
c.440-19G= (n.440-19G=)
c.536-19G= (n.536-19G=)
c.551-19G= (n.551-19G=)
c.521-19G= (n.521-19G=)
7g.74046677G>TCA4292577ELNc.572-19G>T (n.572-19G>T)
c.506-19G>T (n.506-19G>T)
c.587-19G>T (n.587-19G>T)
c.263-19G>T (n.263-19G>T)
c.542-19G>T (n.542-19G>T)
c.557-19G>T (n.557-19G>T)
c.470-19G>T (n.470-19G>T)
c.326-19G>T (n.326-19G>T)
c.197-19G>T (n.197-19G>T)
c.458-19G>T (n.458-19G>T)
n.456-19G>T
n.19G>T
c.440-19G>T (n.440-19G>T)
c.536-19G>T (n.536-19G>T)
c.551-19G>T (n.551-19G>T)
c.521-19G>T (n.521-19G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046678C=CA1717340869ELNc.572-18C= (n.572-18C=)
c.506-18C= (n.506-18C=)
c.587-18C= (n.587-18C=)
c.263-18C= (n.263-18C=)
c.542-18C= (n.542-18C=)
c.557-18C= (n.557-18C=)
c.470-18C= (n.470-18C=)
c.326-18C= (n.326-18C=)
c.197-18C= (n.197-18C=)
c.458-18C= (n.458-18C=)
n.456-18C=
n.20C=
c.440-18C= (n.440-18C=)
c.536-18C= (n.536-18C=)
c.551-18C= (n.551-18C=)
c.521-18C= (n.521-18C=)
7g.74046678C>TCA575345255ELNc.572-18C>T (n.572-18C>T)
c.506-18C>T (n.506-18C>T)
c.587-18C>T (n.587-18C>T)
c.263-18C>T (n.263-18C>T)
c.542-18C>T (n.542-18C>T)
c.557-18C>T (n.557-18C>T)
c.470-18C>T (n.470-18C>T)
c.326-18C>T (n.326-18C>T)
c.197-18C>T (n.197-18C>T)
c.458-18C>T (n.458-18C>T)
n.456-18C>T
n.20C>T
c.440-18C>T (n.440-18C>T)
c.536-18C>T (n.536-18C>T)
c.551-18C>T (n.551-18C>T)
c.521-18C>T (n.521-18C>T)
 dbSNP gnomAD v2 gnomAD v4
7g.74046679T>ACA4292578ELNc.572-17T>A (n.572-17T>A)
c.506-17T>A (n.506-17T>A)
c.587-17T>A (n.587-17T>A)
c.263-17T>A (n.263-17T>A)
c.542-17T>A (n.542-17T>A)
c.557-17T>A (n.557-17T>A)
c.470-17T>A (n.470-17T>A)
c.326-17T>A (n.326-17T>A)
c.197-17T>A (n.197-17T>A)
c.458-17T>A (n.458-17T>A)
n.456-17T>A
n.21T>A
c.440-17T>A (n.440-17T>A)
c.536-17T>A (n.536-17T>A)
c.551-17T>A (n.551-17T>A)
c.521-17T>A (n.521-17T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046679T>CCA2683267076ELNc.572-17T>C (n.572-17T>C)
c.506-17T>C (n.506-17T>C)
c.587-17T>C (n.587-17T>C)
c.263-17T>C (n.263-17T>C)
c.542-17T>C (n.542-17T>C)
c.557-17T>C (n.557-17T>C)
c.470-17T>C (n.470-17T>C)
c.326-17T>C (n.326-17T>C)
c.197-17T>C (n.197-17T>C)
c.458-17T>C (n.458-17T>C)
n.456-17T>C
n.21T>C
c.440-17T>C (n.440-17T>C)
c.536-17T>C (n.536-17T>C)
c.551-17T>C (n.551-17T>C)
c.521-17T>C (n.521-17T>C)
 gnomAD v4
7g.74046679T=CA1717340870ELNc.572-17T= (n.572-17T=)
c.506-17T= (n.506-17T=)
c.587-17T= (n.587-17T=)
c.263-17T= (n.263-17T=)
c.542-17T= (n.542-17T=)
c.557-17T= (n.557-17T=)
c.470-17T= (n.470-17T=)
c.326-17T= (n.326-17T=)
c.197-17T= (n.197-17T=)
c.458-17T= (n.458-17T=)
n.456-17T=
n.21T=
c.440-17T= (n.440-17T=)
c.536-17T= (n.536-17T=)
c.551-17T= (n.551-17T=)
c.521-17T= (n.521-17T=)
7g.74046680C=CA1717340871ELNc.572-16C= (n.572-16C=)
c.506-16C= (n.506-16C=)
c.587-16C= (n.587-16C=)
c.263-16C= (n.263-16C=)
c.542-16C= (n.542-16C=)
c.557-16C= (n.557-16C=)
c.470-16C= (n.470-16C=)
c.326-16C= (n.326-16C=)
c.197-16C= (n.197-16C=)
c.458-16C= (n.458-16C=)
n.456-16C=
n.22C=
c.440-16C= (n.440-16C=)
c.536-16C= (n.536-16C=)
c.551-16C= (n.551-16C=)
c.521-16C= (n.521-16C=)
7g.74046680C>GCA2578907469ELNc.572-16C>G (n.572-16C>G)
c.506-16C>G (n.506-16C>G)
c.587-16C>G (n.587-16C>G)
c.263-16C>G (n.263-16C>G)
c.542-16C>G (n.542-16C>G)
c.557-16C>G (n.557-16C>G)
c.470-16C>G (n.470-16C>G)
c.326-16C>G (n.326-16C>G)
c.197-16C>G (n.197-16C>G)
c.458-16C>G (n.458-16C>G)
n.456-16C>G
n.22C>G
c.440-16C>G (n.440-16C>G)
c.536-16C>G (n.536-16C>G)
c.551-16C>G (n.551-16C>G)
c.521-16C>G (n.521-16C>G)
7g.74046680C>TCA4292579ELNc.572-16C>T (n.572-16C>T)
c.506-16C>T (n.506-16C>T)
c.587-16C>T (n.587-16C>T)
c.263-16C>T (n.263-16C>T)
c.542-16C>T (n.542-16C>T)
c.557-16C>T (n.557-16C>T)
c.470-16C>T (n.470-16C>T)
c.326-16C>T (n.326-16C>T)
c.197-16C>T (n.197-16C>T)
c.458-16C>T (n.458-16C>T)
n.456-16C>T
n.22C>T
c.440-16C>T (n.440-16C>T)
c.536-16C>T (n.536-16C>T)
c.551-16C>T (n.551-16C>T)
c.521-16C>T (n.521-16C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.74046681T>CCA575345256ELNc.572-15T>C (n.572-15T>C)
c.506-15T>C (n.506-15T>C)
c.587-15T>C (n.587-15T>C)
c.263-15T>C (n.263-15T>C)
c.542-15T>C (n.542-15T>C)
c.557-15T>C (n.557-15T>C)
c.470-15T>C (n.470-15T>C)
c.326-15T>C (n.326-15T>C)
c.197-15T>C (n.197-15T>C)
c.458-15T>C (n.458-15T>C)
n.456-15T>C
n.23T>C
c.440-15T>C (n.440-15T>C)
c.536-15T>C (n.536-15T>C)
c.551-15T>C (n.551-15T>C)
c.521-15T>C (n.521-15T>C)
 dbSNP gnomAD v2 gnomAD v4
7g.74046681T=CA1717340872ELNc.572-15T= (n.572-15T=)
c.506-15T= (n.506-15T=)
c.587-15T= (n.587-15T=)
c.263-15T= (n.263-15T=)
c.542-15T= (n.542-15T=)
c.557-15T= (n.557-15T=)
c.470-15T= (n.470-15T=)
c.326-15T= (n.326-15T=)
c.197-15T= (n.197-15T=)
c.458-15T= (n.458-15T=)
n.456-15T=
n.23T=
c.440-15T= (n.440-15T=)
c.536-15T= (n.536-15T=)
c.551-15T= (n.551-15T=)
c.521-15T= (n.521-15T=)
7g.74046682C>TCA2683267079ELNc.572-14C>T (n.572-14C>T)
c.506-14C>T (n.506-14C>T)
c.587-14C>T (n.587-14C>T)
c.263-14C>T (n.263-14C>T)
c.542-14C>T (n.542-14C>T)
c.557-14C>T (n.557-14C>T)
c.470-14C>T (n.470-14C>T)
c.326-14C>T (n.326-14C>T)
c.197-14C>T (n.197-14C>T)
c.458-14C>T (n.458-14C>T)
n.456-14C>T
n.24C>T
c.440-14C>T (n.440-14C>T)
c.536-14C>T (n.536-14C>T)
c.551-14C>T (n.551-14C>T)
c.521-14C>T (n.521-14C>T)
 gnomAD v4
7g.74046683T>ACA2578907470ELNc.572-13T>A (n.572-13T>A)
c.506-13T>A (n.506-13T>A)
c.587-13T>A (n.587-13T>A)
c.263-13T>A (n.263-13T>A)
c.542-13T>A (n.542-13T>A)
c.557-13T>A (n.557-13T>A)
c.470-13T>A (n.470-13T>A)
c.326-13T>A (n.326-13T>A)
c.197-13T>A (n.197-13T>A)
c.458-13T>A (n.458-13T>A)
n.456-13T>A
n.25T>A
c.440-13T>A (n.440-13T>A)
c.536-13T>A (n.536-13T>A)
c.551-13T>A (n.551-13T>A)
c.521-13T>A (n.521-13T>A)
7g.74046686A>CCA2683267080ELNc.572-10A>C (n.572-10A>C)
c.506-10A>C (n.506-10A>C)
c.587-10A>C (n.587-10A>C)
c.263-10A>C (n.263-10A>C)
c.542-10A>C (n.542-10A>C)
c.557-10A>C (n.557-10A>C)
c.470-10A>C (n.470-10A>C)
c.326-10A>C (n.326-10A>C)
c.197-10A>C (n.197-10A>C)
c.458-10A>C (n.458-10A>C)
n.456-10A>C
n.28A>C
c.440-10A>C (n.440-10A>C)
c.536-10A>C (n.536-10A>C)
c.551-10A>C (n.551-10A>C)
c.521-10A>C (n.521-10A>C)
 gnomAD v4
7g.74046689C=CA1717340873ELNc.572-7C= (n.572-7C=)
c.506-7C= (n.506-7C=)
c.587-7C= (n.587-7C=)
c.263-7C= (n.263-7C=)
c.542-7C= (n.542-7C=)
c.557-7C= (n.557-7C=)
c.470-7C= (n.470-7C=)
c.326-7C= (n.326-7C=)
c.197-7C= (n.197-7C=)
c.458-7C= (n.458-7C=)
n.456-7C=
n.31C=
c.440-7C= (n.440-7C=)
c.536-7C= (n.536-7C=)
c.551-7C= (n.551-7C=)
c.521-7C= (n.521-7C=)
7g.74046689C>TCA575345257ELNc.572-7C>T (n.572-7C>T)
c.506-7C>T (n.506-7C>T)
c.587-7C>T (n.587-7C>T)
c.263-7C>T (n.263-7C>T)
c.542-7C>T (n.542-7C>T)
c.557-7C>T (n.557-7C>T)
c.470-7C>T (n.470-7C>T)
c.326-7C>T (n.326-7C>T)
c.197-7C>T (n.197-7C>T)
c.458-7C>T (n.458-7C>T)
n.456-7C>T
n.31C>T
c.440-7C>T (n.440-7C>T)
c.536-7C>T (n.536-7C>T)
c.551-7C>T (n.551-7C>T)
c.521-7C>T (n.521-7C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.74046693C>TCA2683267081ELNc.572-3C>T (n.572-3C>T)
c.506-3C>T (n.506-3C>T)
c.587-3C>T (n.587-3C>T)
c.263-3C>T (n.263-3C>T)
c.542-3C>T (n.542-3C>T)
c.557-3C>T (n.557-3C>T)
c.470-3C>T (n.470-3C>T)
c.326-3C>T (n.326-3C>T)
c.197-3C>T (n.197-3C>T)
c.458-3C>T (n.458-3C>T)
n.456-3C>T
n.35C>T
c.440-3C>T (n.440-3C>T)
c.536-3C>T (n.536-3C>T)
c.551-3C>T (n.551-3C>T)
c.521-3C>T (n.521-3C>T)
 gnomAD v4
7g.74046694A>CCA367870196ELNc.572-2A>C (n.572-2A>C)
c.506-2A>C (n.506-2A>C)
c.587-2A>C (n.587-2A>C)
c.263-2A>C (n.263-2A>C)
c.542-2A>C (n.542-2A>C)
c.557-2A>C (n.557-2A>C)
c.470-2A>C (n.470-2A>C)
c.326-2A>C (n.326-2A>C)
c.197-2A>C (n.197-2A>C)
c.458-2A>C (n.458-2A>C)
n.456-2A>C
n.36A>C
c.440-2A>C (n.440-2A>C)
c.536-2A>C (n.536-2A>C)
c.551-2A>C (n.551-2A>C)
c.521-2A>C (n.521-2A>C)
7g.74046694A>GCA367870197ELNc.572-2A>G (n.572-2A>G)
c.506-2A>G (n.506-2A>G)
c.587-2A>G (n.587-2A>G)
c.263-2A>G (n.263-2A>G)
c.542-2A>G (n.542-2A>G)
c.557-2A>G (n.557-2A>G)
c.470-2A>G (n.470-2A>G)
c.326-2A>G (n.326-2A>G)
c.197-2A>G (n.197-2A>G)
c.458-2A>G (n.458-2A>G)
n.456-2A>G
n.36A>G
c.440-2A>G (n.440-2A>G)
c.536-2A>G (n.536-2A>G)
c.551-2A>G (n.551-2A>G)
c.521-2A>G (n.521-2A>G)
 gnomAD v4
7g.74046694A>TCA367870198ELNc.572-2A>T (n.572-2A>T)
c.506-2A>T (n.506-2A>T)
c.587-2A>T (n.587-2A>T)
c.263-2A>T (n.263-2A>T)
c.542-2A>T (n.542-2A>T)
c.557-2A>T (n.557-2A>T)
c.470-2A>T (n.470-2A>T)
c.326-2A>T (n.326-2A>T)
c.197-2A>T (n.197-2A>T)
c.458-2A>T (n.458-2A>T)
n.456-2A>T
n.36A>T
c.440-2A>T (n.440-2A>T)
c.536-2A>T (n.536-2A>T)
c.551-2A>T (n.551-2A>T)
c.521-2A>T (n.521-2A>T)
7g.74046694_74046700delinsAGGAGTTCA1717340874ELNc.572-2_576delinsAGGAGTT
c.506-2_510delinsAGGAGTT
c.587-2_591delinsAGGAGTT
c.263-2_267delinsAGGAGTT
c.542-2_546delinsAGGAGTT
c.557-2_561delinsAGGAGTT
c.470-2_474delinsAGGAGTT
c.326-2_330delinsAGGAGTT
c.197-2_201delinsAGGAGTT
c.458-2_462delinsAGGAGTT
n.456-2_460delinsAGGAGTT
n.36_42delinsAGGAGTT
c.440-2_444delinsAGGAGTT
c.536-2_540delinsAGGAGTT
c.551-2_555delinsAGGAGTT
c.521-2_525delinsAGGAGTT
7g.74046695G>ACA367870201ELNc.572-1G>A (n.572-1G>A)
c.506-1G>A (n.506-1G>A)
c.587-1G>A (n.587-1G>A)
c.263-1G>A (n.263-1G>A)
c.542-1G>A (n.542-1G>A)
c.557-1G>A (n.557-1G>A)
c.470-1G>A (n.470-1G>A)
c.326-1G>A (n.326-1G>A)
c.197-1G>A (n.197-1G>A)
c.458-1G>A (n.458-1G>A)
n.456-1G>A
n.37G>A
c.440-1G>A (n.440-1G>A)
c.536-1G>A (n.536-1G>A)
c.551-1G>A (n.551-1G>A)
c.521-1G>A (n.521-1G>A)
 ClinVar dbSNP
7g.74046695G>CCA367870199ELNc.572-1G>C (n.572-1G>C)
c.506-1G>C (n.506-1G>C)
c.587-1G>C (n.587-1G>C)
c.263-1G>C (n.263-1G>C)
c.542-1G>C (n.542-1G>C)
c.557-1G>C (n.557-1G>C)
c.470-1G>C (n.470-1G>C)
c.326-1G>C (n.326-1G>C)
c.197-1G>C (n.197-1G>C)
c.458-1G>C (n.458-1G>C)
n.456-1G>C
n.37G>C
c.440-1G>C (n.440-1G>C)
c.536-1G>C (n.536-1G>C)
c.551-1G>C (n.551-1G>C)
c.521-1G>C (n.521-1G>C)
7g.74046695G>TCA367870200ELNc.572-1G>T (n.572-1G>T)
c.506-1G>T (n.506-1G>T)
c.587-1G>T (n.587-1G>T)
c.263-1G>T (n.263-1G>T)
c.542-1G>T (n.542-1G>T)
c.557-1G>T (n.557-1G>T)
c.470-1G>T (n.470-1G>T)
c.326-1G>T (n.326-1G>T)
c.197-1G>T (n.197-1G>T)
c.458-1G>T (n.458-1G>T)
n.456-1G>T
n.37G>T
c.440-1G>T (n.440-1G>T)
c.536-1G>T (n.536-1G>T)
c.551-1G>T (n.551-1G>T)
c.521-1G>T (n.521-1G>T)
7g.74046698_74046703delCA1103079626ELNc.574_579del
c.508_513del
c.589_594del
c.265_270del
c.544_549del
c.559_564del
c.472_477del
c.328_333del
c.199_204del
c.460_465del
n.458_463del
n.40_45del
c.442_447del
c.538_543del
c.553_558del
c.523_528del
 dbSNP gnomAD v3 gnomAD v4
7g.74046696G>ACA367870202ELNc.572G>A (p.Gly191Glu)
c.506G>A (p.Gly169Glu)
c.587G>A (p.Gly196Glu)
c.263G>A (p.Gly88Glu)
c.542G>A (p.Gly181Glu)
c.557G>A (p.Gly186Glu)
c.470G>A (p.Gly157Glu)
c.326G>A (p.Gly109Glu)
c.197G>A (p.Gly66Glu)
c.458G>A (p.Gly153Glu)
n.456G>A
n.38G>A
c.440G>A (p.Gly147Glu)
c.536G>A (p.Gly179Glu)
c.551G>A (p.Gly184Glu)
c.521G>A (p.Gly174Glu)
 gnomAD v4 COSMIC COSMIC
7g.74046696G>CCA367870203ELNc.572G>C (p.Gly191Ala)
c.506G>C (p.Gly169Ala)
c.587G>C (p.Gly196Ala)
c.263G>C (p.Gly88Ala)
c.542G>C (p.Gly181Ala)
c.557G>C (p.Gly186Ala)
c.470G>C (p.Gly157Ala)
c.326G>C (p.Gly109Ala)
c.197G>C (p.Gly66Ala)
c.458G>C (p.Gly153Ala)
n.456G>C
n.38G>C
c.440G>C (p.Gly147Ala)
c.536G>C (p.Gly179Ala)
c.551G>C (p.Gly184Ala)
c.521G>C (p.Gly174Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.74046696G=CA1717340875ELNc.572G= (p.Gly191=)
c.506G= (p.Gly169=)
c.587G= (p.Gly196=)
c.263G= (p.Gly88=)
c.542G= (p.Gly181=)
c.557G= (p.Gly186=)
c.470G= (p.Gly157=)
c.326G= (p.Gly109=)
c.197G= (p.Gly66=)
c.458G= (p.Gly153=)
n.456G=
n.38G=
c.440G= (p.Gly147=)
c.536G= (p.Gly179=)
c.551G= (p.Gly184=)
c.521G= (p.Gly174=)
7g.74046696G>TCA367870204ELNc.572G>T (p.Gly191Val)
c.506G>T (p.Gly169Val)
c.587G>T (p.Gly196Val)
c.263G>T (p.Gly88Val)
c.542G>T (p.Gly181Val)
c.557G>T (p.Gly186Val)
c.470G>T (p.Gly157Val)
c.326G>T (p.Gly109Val)
c.197G>T (p.Gly66Val)
c.458G>T (p.Gly153Val)
n.456G>T
n.38G>T
c.440G>T (p.Gly147Val)
c.536G>T (p.Gly179Val)
c.551G>T (p.Gly184Val)
c.521G>T (p.Gly174Val)
7g.74046697A>CCA455883296ELNc.573A>C (p.Gly191=)
c.507A>C (p.Gly169=)
c.588A>C (p.Gly196=)
c.264A>C (p.Gly88=)
c.543A>C (p.Gly181=)
c.558A>C (p.Gly186=)
c.471A>C (p.Gly157=)
c.327A>C (p.Gly109=)
c.198A>C (p.Gly66=)
c.459A>C (p.Gly153=)
n.457A>C
n.39A>C
c.441A>C (p.Gly147=)
c.537A>C (p.Gly179=)
c.552A>C (p.Gly184=)
c.522A>C (p.Gly174=)
7g.74046697A>GCA455883294ELNc.573A>G (p.Gly191=)
c.507A>G (p.Gly169=)
c.588A>G (p.Gly196=)
c.264A>G (p.Gly88=)
c.543A>G (p.Gly181=)
c.558A>G (p.Gly186=)
c.471A>G (p.Gly157=)
c.327A>G (p.Gly109=)
c.198A>G (p.Gly66=)
c.459A>G (p.Gly153=)
n.457A>G
n.39A>G
c.441A>G (p.Gly147=)
c.537A>G (p.Gly179=)
c.552A>G (p.Gly184=)
c.522A>G (p.Gly174=)
7g.74046697A>TCA455883292ELNc.573A>T (p.Gly191=)
c.507A>T (p.Gly169=)
c.588A>T (p.Gly196=)
c.264A>T (p.Gly88=)
c.543A>T (p.Gly181=)
c.558A>T (p.Gly186=)
c.471A>T (p.Gly157=)
c.327A>T (p.Gly109=)
c.198A>T (p.Gly66=)
c.459A>T (p.Gly153=)
n.457A>T
n.39A>T
c.441A>T (p.Gly147=)
c.537A>T (p.Gly179=)
c.552A>T (p.Gly184=)
c.522A>T (p.Gly174=)
7g.74046698G>ACA367870205ELNc.574G>A (p.Val192Ile)
c.508G>A (p.Val170Ile)
c.589G>A (p.Val197Ile)
c.265G>A (p.Val89Ile)
c.544G>A (p.Val182Ile)
c.559G>A (p.Val187Ile)
c.472G>A (p.Val158Ile)
c.328G>A (p.Val110Ile)
c.199G>A (p.Val67Ile)
c.460G>A (p.Val154Ile)
n.458G>A
n.40G>A
c.442G>A (p.Val148Ile)
c.538G>A (p.Val180Ile)
c.553G>A (p.Val185Ile)
c.523G>A (p.Val175Ile)
7g.74046698G>CCA367870206ELNc.574G>C (p.Val192Leu)
c.508G>C (p.Val170Leu)
c.589G>C (p.Val197Leu)
c.265G>C (p.Val89Leu)
c.544G>C (p.Val182Leu)
c.559G>C (p.Val187Leu)
c.472G>C (p.Val158Leu)
c.328G>C (p.Val110Leu)
c.199G>C (p.Val67Leu)
c.460G>C (p.Val154Leu)
n.458G>C
n.40G>C
c.442G>C (p.Val148Leu)
c.538G>C (p.Val180Leu)
c.553G>C (p.Val185Leu)
c.523G>C (p.Val175Leu)
7g.74046698G>TCA367870207ELNc.574G>T (p.Val192Phe)
c.508G>T (p.Val170Phe)
c.589G>T (p.Val197Phe)
c.265G>T (p.Val89Phe)
c.544G>T (p.Val182Phe)
c.559G>T (p.Val187Phe)
c.472G>T (p.Val158Phe)
c.328G>T (p.Val110Phe)
c.199G>T (p.Val67Phe)
c.460G>T (p.Val154Phe)
n.458G>T
n.40G>T
c.442G>T (p.Val148Phe)
c.538G>T (p.Val180Phe)
c.553G>T (p.Val185Phe)
c.523G>T (p.Val175Phe)
7g.74046699T>ACA367870208ELNc.575T>A (p.Val192Asp)
c.509T>A (p.Val170Asp)
c.590T>A (p.Val197Asp)
c.266T>A (p.Val89Asp)
c.545T>A (p.Val182Asp)
c.560T>A (p.Val187Asp)
c.473T>A (p.Val158Asp)
c.329T>A (p.Val110Asp)
c.200T>A (p.Val67Asp)
c.461T>A (p.Val154Asp)
n.459T>A
n.41T>A
c.443T>A (p.Val148Asp)
c.539T>A (p.Val180Asp)
c.554T>A (p.Val185Asp)
c.524T>A (p.Val175Asp)
7g.74046699T>CCA367870209ELNc.575T>C (p.Val192Ala)
c.509T>C (p.Val170Ala)
c.590T>C (p.Val197Ala)
c.266T>C (p.Val89Ala)
c.545T>C (p.Val182Ala)
c.560T>C (p.Val187Ala)
c.473T>C (p.Val158Ala)
c.329T>C (p.Val110Ala)
c.200T>C (p.Val67Ala)
c.461T>C (p.Val154Ala)
n.459T>C
n.41T>C
c.443T>C (p.Val148Ala)
c.539T>C (p.Val180Ala)
c.554T>C (p.Val185Ala)
c.524T>C (p.Val175Ala)
 gnomAD v4
7g.74046699T>GCA367870210ELNc.575T>G (p.Val192Gly)
c.509T>G (p.Val170Gly)
c.590T>G (p.Val197Gly)
c.266T>G (p.Val89Gly)
c.545T>G (p.Val182Gly)
c.560T>G (p.Val187Gly)
c.473T>G (p.Val158Gly)
c.329T>G (p.Val110Gly)
c.200T>G (p.Val67Gly)
c.461T>G (p.Val154Gly)
n.459T>G
n.41T>G
c.443T>G (p.Val148Gly)
c.539T>G (p.Val180Gly)
c.554T>G (p.Val185Gly)
c.524T>G (p.Val175Gly)
7g.74046700T>ACA455883308ELNc.576T>A (p.Val192=)
c.510T>A (p.Val170=)
c.591T>A (p.Val197=)
c.267T>A (p.Val89=)
c.546T>A (p.Val182=)
c.561T>A (p.Val187=)
c.474T>A (p.Val158=)
c.330T>A (p.Val110=)
c.201T>A (p.Val67=)
c.462T>A (p.Val154=)
n.460T>A
n.42T>A
c.444T>A (p.Val148=)
c.540T>A (p.Val180=)
c.555T>A (p.Val185=)
c.525T>A (p.Val175=)
7g.74046700T>CCA455883305ELNc.576T>C (p.Val192=)
c.510T>C (p.Val170=)
c.591T>C (p.Val197=)
c.267T>C (p.Val89=)
c.546T>C (p.Val182=)
c.561T>C (p.Val187=)
c.474T>C (p.Val158=)
c.330T>C (p.Val110=)
c.201T>C (p.Val67=)
c.462T>C (p.Val154=)
n.460T>C
n.42T>C
c.444T>C (p.Val148=)
c.540T>C (p.Val180=)
c.555T>C (p.Val185=)
c.525T>C (p.Val175=)
7g.74046700T>GCA455883304ELNc.576T>G (p.Val192=)
c.510T>G (p.Val170=)
c.591T>G (p.Val197=)
c.267T>G (p.Val89=)
c.546T>G (p.Val182=)
c.561T>G (p.Val187=)
c.474T>G (p.Val158=)
c.330T>G (p.Val110=)
c.201T>G (p.Val67=)
c.462T>G (p.Val154=)
n.460T>G
n.42T>G
c.444T>G (p.Val148=)
c.540T>G (p.Val180=)
c.555T>G (p.Val185=)
c.525T>G (p.Val175=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.74046700T=CA1717340876ELNc.576T= (p.Val192=)
c.510T= (p.Val170=)
c.591T= (p.Val197=)
c.267T= (p.Val89=)
c.546T= (p.Val182=)
c.561T= (p.Val187=)
c.474T= (p.Val158=)
c.330T= (p.Val110=)
c.201T= (p.Val67=)
c.462T= (p.Val154=)
n.460T=
n.42T=
c.444T= (p.Val148=)
c.540T= (p.Val180=)
c.555T= (p.Val185=)
c.525T= (p.Val175=)
7g.74046701G>ACA367870211ELNc.577G>A (p.Gly193Arg)
c.511G>A (p.Gly171Arg)
c.592G>A (p.Gly198Arg)
c.268G>A (p.Gly90Arg)
c.547G>A (p.Gly183Arg)
c.562G>A (p.Gly188Arg)
c.475G>A (p.Gly159Arg)
c.331G>A (p.Gly111Arg)
c.202G>A (p.Gly68Arg)
c.463G>A (p.Gly155Arg)
n.461G>A
n.43G>A
c.445G>A (p.Gly149Arg)
c.541G>A (p.Gly181Arg)
c.556G>A (p.Gly186Arg)
c.526G>A (p.Gly176Arg)
7g.74046701G>CCA367870212ELNc.577G>C (p.Gly193Arg)
c.511G>C (p.Gly171Arg)
c.592G>C (p.Gly198Arg)
c.268G>C (p.Gly90Arg)
c.547G>C (p.Gly183Arg)
c.562G>C (p.Gly188Arg)
c.475G>C (p.Gly159Arg)
c.331G>C (p.Gly111Arg)
c.202G>C (p.Gly68Arg)
c.463G>C (p.Gly155Arg)
n.461G>C
n.43G>C
c.445G>C (p.Gly149Arg)
c.541G>C (p.Gly181Arg)
c.556G>C (p.Gly186Arg)
c.526G>C (p.Gly176Arg)
7g.74046701G>TCA367870213ELNc.577G>T (p.Gly193Ter)
c.511G>T (p.Gly171Ter)
c.592G>T (p.Gly198Ter)
c.268G>T (p.Gly90Ter)
c.547G>T (p.Gly183Ter)
c.562G>T (p.Gly188Ter)
c.475G>T (p.Gly159Ter)
c.331G>T (p.Gly111Ter)
c.202G>T (p.Gly68Ter)
c.463G>T (p.Gly155Ter)
n.461G>T
n.43G>T
c.445G>T (p.Gly149Ter)
c.541G>T (p.Gly181Ter)
c.556G>T (p.Gly186Ter)
c.526G>T (p.Gly176Ter)
7g.74046702delCA2695207871ELNc.578del (p.Gly193AspfsTer?)
c.512del (p.Gly171AspfsTer?)
c.593del (p.Gly198AspfsTer?)
c.269del (p.Gly90AspfsTer?)
c.548del (p.Gly183AspfsTer?)
c.563del (p.Gly188AspfsTer?)
c.476del (p.Gly159AspfsTer?)
c.332del (p.Gly111AspfsTer?)
c.203del (p.Gly68AspfsTer?)
c.464del (p.Gly155AspfsTer?)
n.462del
n.44del
c.446del (p.Gly149AspfsTer?)
c.542del (p.Gly181AspfsTer?)
c.557del (p.Gly186AspfsTer?)
c.527del (p.Gly176AspfsTer?)
7g.74046702G>ACA367870216ELNc.578G>A (p.Gly193Glu)
c.512G>A (p.Gly171Glu)
c.593G>A (p.Gly198Glu)
c.269G>A (p.Gly90Glu)
c.548G>A (p.Gly183Glu)
c.563G>A (p.Gly188Glu)
c.476G>A (p.Gly159Glu)
c.332G>A (p.Gly111Glu)
c.203G>A (p.Gly68Glu)
c.464G>A (p.Gly155Glu)
n.462G>A
n.44G>A
c.446G>A (p.Gly149Glu)
c.542G>A (p.Gly181Glu)
c.557G>A (p.Gly186Glu)
c.527G>A (p.Gly176Glu)
 gnomAD v4
7g.74046702G>CCA367870215ELNc.578G>C (p.Gly193Ala)
c.512G>C (p.Gly171Ala)
c.593G>C (p.Gly198Ala)
c.269G>C (p.Gly90Ala)
c.548G>C (p.Gly183Ala)
c.563G>C (p.Gly188Ala)
c.476G>C (p.Gly159Ala)
c.332G>C (p.Gly111Ala)
c.203G>C (p.Gly68Ala)
c.464G>C (p.Gly155Ala)
n.462G>C
n.44G>C
c.446G>C (p.Gly149Ala)
c.542G>C (p.Gly181Ala)
c.557G>C (p.Gly186Ala)
c.527G>C (p.Gly176Ala)
7g.74046702G>TCA367870214ELNc.578G>T (p.Gly193Val)
c.512G>T (p.Gly171Val)
c.593G>T (p.Gly198Val)
c.269G>T (p.Gly90Val)
c.548G>T (p.Gly183Val)
c.563G>T (p.Gly188Val)
c.476G>T (p.Gly159Val)
c.332G>T (p.Gly111Val)
c.203G>T (p.Gly68Val)
c.464G>T (p.Gly155Val)
n.462G>T
n.44G>T
c.446G>T (p.Gly149Val)
c.542G>T (p.Gly181Val)
c.557G>T (p.Gly186Val)
c.527G>T (p.Gly176Val)
7g.74046703A>CCA455883317ELNc.579A>C (p.Gly193=)
c.513A>C (p.Gly171=)
c.594A>C (p.Gly198=)
c.270A>C (p.Gly90=)
c.549A>C (p.Gly183=)
c.564A>C (p.Gly188=)
c.477A>C (p.Gly159=)
c.333A>C (p.Gly111=)
c.204A>C (p.Gly68=)
c.465A>C (p.Gly155=)
n.463A>C
n.45A>C
c.447A>C (p.Gly149=)
c.543A>C (p.Gly181=)
c.558A>C (p.Gly186=)
c.528A>C (p.Gly176=)
7g.74046703A>GCA455883319ELNc.579A>G (p.Gly193=)
c.513A>G (p.Gly171=)
c.594A>G (p.Gly198=)
c.270A>G (p.Gly90=)
c.549A>G (p.Gly183=)
c.564A>G (p.Gly188=)
c.477A>G (p.Gly159=)
c.333A>G (p.Gly111=)
c.204A>G (p.Gly68=)
c.465A>G (p.Gly155=)
n.463A>G
n.45A>G
c.447A>G (p.Gly149=)
c.543A>G (p.Gly181=)
c.558A>G (p.Gly186=)
c.528A>G (p.Gly176=)
7g.74046703A>TCA455883321ELNc.579A>T (p.Gly193=)
c.513A>T (p.Gly171=)
c.594A>T (p.Gly198=)
c.270A>T (p.Gly90=)
c.549A>T (p.Gly183=)
c.564A>T (p.Gly188=)
c.477A>T (p.Gly159=)
c.333A>T (p.Gly111=)
c.204A>T (p.Gly68=)
c.465A>T (p.Gly155=)
n.463A>T
n.45A>T
c.447A>T (p.Gly149=)
c.543A>T (p.Gly181=)
c.558A>T (p.Gly186=)
c.528A>T (p.Gly176=)
7g.74046704C>ACA367870218ELNc.580C>A (p.Pro194Thr)
c.514C>A (p.Pro172Thr)
c.595C>A (p.Pro199Thr)
c.271C>A (p.Pro91Thr)
c.550C>A (p.Pro184Thr)
c.565C>A (p.Pro189Thr)
c.478C>A (p.Pro160Thr)
c.334C>A (p.Pro112Thr)
c.205C>A (p.Pro69Thr)
c.466C>A (p.Pro156Thr)
n.464C>A
n.46C>A
c.448C>A (p.Pro150Thr)
c.544C>A (p.Pro182Thr)
c.559C>A (p.Pro187Thr)
c.529C>A (p.Pro177Thr)
7g.74046704C>GCA367870217ELNc.580C>G (p.Pro194Ala)
c.514C>G (p.Pro172Ala)
c.595C>G (p.Pro199Ala)
c.271C>G (p.Pro91Ala)
c.550C>G (p.Pro184Ala)
c.565C>G (p.Pro189Ala)
c.478C>G (p.Pro160Ala)
c.334C>G (p.Pro112Ala)
c.205C>G (p.Pro69Ala)
c.466C>G (p.Pro156Ala)
n.464C>G
n.46C>G
c.448C>G (p.Pro150Ala)
c.544C>G (p.Pro182Ala)
c.559C>G (p.Pro187Ala)
c.529C>G (p.Pro177Ala)
7g.74046704C>TCA367870219ELNc.580C>T (p.Pro194Ser)
c.514C>T (p.Pro172Ser)
c.595C>T (p.Pro199Ser)
c.271C>T (p.Pro91Ser)
c.550C>T (p.Pro184Ser)
c.565C>T (p.Pro189Ser)
c.478C>T (p.Pro160Ser)
c.334C>T (p.Pro112Ser)
c.205C>T (p.Pro69Ser)
c.466C>T (p.Pro156Ser)
n.464C>T
n.46C>T
c.448C>T (p.Pro150Ser)
c.544C>T (p.Pro182Ser)
c.559C>T (p.Pro187Ser)
c.529C>T (p.Pro177Ser)
7g.74046706delCA2573052915ELNc.582del (p.Phe195LeufsTer?)
c.516del (p.Phe173LeufsTer?)
c.597del (p.Phe200LeufsTer?)
c.273del (p.Phe92LeufsTer?)
c.552del (p.Phe185LeufsTer?)
c.567del (p.Phe190LeufsTer?)
c.480del (p.Phe161LeufsTer?)
c.336del (p.Phe113LeufsTer?)
c.207del (p.Phe70LeufsTer?)
c.468del (p.Phe157LeufsTer?)
n.466del
n.48del
c.450del (p.Phe151LeufsTer?)
c.546del (p.Phe183LeufsTer?)
c.561del (p.Phe188LeufsTer?)
c.531del (p.Phe178LeufsTer?)
 ClinVar dbSNP
7g.74046705C>ACA367870220ELNc.581C>A (p.Pro194His)
c.515C>A (p.Pro172His)
c.596C>A (p.Pro199His)
c.272C>A (p.Pro91His)
c.551C>A (p.Pro184His)
c.566C>A (p.Pro189His)
c.479C>A (p.Pro160His)
c.335C>A (p.Pro112His)
c.206C>A (p.Pro69His)
c.467C>A (p.Pro156His)
n.465C>A
n.47C>A
c.449C>A (p.Pro150His)
c.545C>A (p.Pro182His)
c.560C>A (p.Pro187His)
c.530C>A (p.Pro177His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.74046705C=CA1717340877ELNc.581C= (p.Pro194=)
c.515C= (p.Pro172=)
c.596C= (p.Pro199=)
c.272C= (p.Pro91=)
c.551C= (p.Pro184=)
c.566C= (p.Pro189=)
c.479C= (p.Pro160=)
c.335C= (p.Pro112=)
c.206C= (p.Pro69=)
c.467C= (p.Pro156=)
n.465C=
n.47C=
c.449C= (p.Pro150=)
c.545C= (p.Pro182=)
c.560C= (p.Pro187=)
c.530C= (p.Pro177=)
7g.74046705C>GCA367870221ELNc.581C>G (p.Pro194Arg)
c.515C>G (p.Pro172Arg)
c.596C>G (p.Pro199Arg)
c.272C>G (p.Pro91Arg)
c.551C>G (p.Pro184Arg)
c.566C>G (p.Pro189Arg)
c.479C>G (p.Pro160Arg)
c.335C>G (p.Pro112Arg)
c.206C>G (p.Pro69Arg)
c.467C>G (p.Pro156Arg)
n.465C>G
n.47C>G
c.449C>G (p.Pro150Arg)
c.545C>G (p.Pro182Arg)
c.560C>G (p.Pro187Arg)
c.530C>G (p.Pro177Arg)
7g.74046705C>TCA367870222ELNc.581C>T (p.Pro194Leu)
c.515C>T (p.Pro172Leu)
c.596C>T (p.Pro199Leu)
c.272C>T (p.Pro91Leu)
c.551C>T (p.Pro184Leu)
c.566C>T (p.Pro189Leu)
c.479C>T (p.Pro160Leu)
c.335C>T (p.Pro112Leu)
c.206C>T (p.Pro69Leu)
c.467C>T (p.Pro156Leu)
n.465C>T
n.47C>T
c.449C>T (p.Pro150Leu)
c.545C>T (p.Pro182Leu)
c.560C>T (p.Pro187Leu)
c.530C>T (p.Pro177Leu)
7g.74046706C>ACA455883331ELNc.582C>A (p.Pro194=)
c.516C>A (p.Pro172=)
c.597C>A (p.Pro199=)
c.273C>A (p.Pro91=)
c.552C>A (p.Pro184=)
c.567C>A (p.Pro189=)
c.480C>A (p.Pro160=)
c.336C>A (p.Pro112=)
c.207C>A (p.Pro69=)
c.468C>A (p.Pro156=)
n.466C>A
n.48C>A
c.450C>A (p.Pro150=)
c.546C>A (p.Pro182=)
c.561C>A (p.Pro187=)
c.531C>A (p.Pro177=)
7g.74046706C=CA1717340878ELNc.582C= (p.Pro194=)
c.516C= (p.Pro172=)
c.597C= (p.Pro199=)
c.273C= (p.Pro91=)
c.552C= (p.Pro184=)
c.567C= (p.Pro189=)
c.480C= (p.Pro160=)
c.336C= (p.Pro112=)
c.207C= (p.Pro69=)
c.468C= (p.Pro156=)
n.466C=
n.48C=
c.450C= (p.Pro150=)
c.546C= (p.Pro182=)
c.561C= (p.Pro187=)
c.531C= (p.Pro177=)
7g.74046706C>GCA455883330ELNc.582C>G (p.Pro194=)
c.516C>G (p.Pro172=)
c.597C>G (p.Pro199=)
c.273C>G (p.Pro91=)
c.552C>G (p.Pro184=)
c.567C>G (p.Pro189=)
c.480C>G (p.Pro160=)
c.336C>G (p.Pro112=)
c.207C>G (p.Pro69=)
c.468C>G (p.Pro156=)
n.466C>G
n.48C>G
c.450C>G (p.Pro150=)
c.546C>G (p.Pro182=)
c.561C>G (p.Pro187=)
c.531C>G (p.Pro177=)
 dbSNP gnomAD v2 gnomAD v4
7g.74046706C>TCA160128490ELNc.582C>T (p.Pro194=)
c.516C>T (p.Pro172=)
c.597C>T (p.Pro199=)
c.273C>T (p.Pro91=)
c.552C>T (p.Pro184=)
c.567C>T (p.Pro189=)
c.480C>T (p.Pro160=)
c.336C>T (p.Pro112=)
c.207C>T (p.Pro69=)
c.468C>T (p.Pro156=)
n.466C>T
n.48C>T
c.450C>T (p.Pro150=)
c.546C>T (p.Pro182=)
c.561C>T (p.Pro187=)
c.531C>T (p.Pro177=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.74046707T>ACA367870223ELNc.583T>A (p.Phe195Ile)
c.517T>A (p.Phe173Ile)
c.598T>A (p.Phe200Ile)
c.274T>A (p.Phe92Ile)
c.553T>A (p.Phe185Ile)
c.568T>A (p.Phe190Ile)
c.481T>A (p.Phe161Ile)
c.337T>A (p.Phe113Ile)
c.208T>A (p.Phe70Ile)
c.469T>A (p.Phe157Ile)
n.467T>A
n.49T>A
c.451T>A (p.Phe151Ile)
c.547T>A (p.Phe183Ile)
c.562T>A (p.Phe188Ile)
c.532T>A (p.Phe178Ile)
7g.74046707T>CCA367870224ELNc.583T>C (p.Phe195Leu)
c.517T>C (p.Phe173Leu)
c.598T>C (p.Phe200Leu)
c.274T>C (p.Phe92Leu)
c.553T>C (p.Phe185Leu)
c.568T>C (p.Phe190Leu)
c.481T>C (p.Phe161Leu)
c.337T>C (p.Phe113Leu)
c.208T>C (p.Phe70Leu)
c.469T>C (p.Phe157Leu)
n.467T>C
n.49T>C
c.451T>C (p.Phe151Leu)
c.547T>C (p.Phe183Leu)
c.562T>C (p.Phe188Leu)
c.532T>C (p.Phe178Leu)
7g.74046707T>GCA367870225ELNc.583T>G (p.Phe195Val)
c.517T>G (p.Phe173Val)
c.598T>G (p.Phe200Val)
c.274T>G (p.Phe92Val)
c.553T>G (p.Phe185Val)
c.568T>G (p.Phe190Val)
c.481T>G (p.Phe161Val)
c.337T>G (p.Phe113Val)
c.208T>G (p.Phe70Val)
c.469T>G (p.Phe157Val)
n.467T>G
n.49T>G
c.451T>G (p.Phe151Val)
c.547T>G (p.Phe183Val)
c.562T>G (p.Phe188Val)
c.532T>G (p.Phe178Val)
 gnomAD v3 gnomAD v4
7g.74046708T>ACA367870226ELNc.584T>A (p.Phe195Tyr)
c.518T>A (p.Phe173Tyr)
c.599T>A (p.Phe200Tyr)
c.275T>A (p.Phe92Tyr)
c.554T>A (p.Phe185Tyr)
c.569T>A (p.Phe190Tyr)
c.482T>A (p.Phe161Tyr)
c.338T>A (p.Phe113Tyr)
c.209T>A (p.Phe70Tyr)
c.470T>A (p.Phe157Tyr)
n.468T>A
n.50T>A
c.452T>A (p.Phe151Tyr)
c.548T>A (p.Phe183Tyr)
c.563T>A (p.Phe188Tyr)
c.533T>A (p.Phe178Tyr)
7g.74046708T>CCA160128491ELNc.584T>C (p.Phe195Ser)
c.518T>C (p.Phe173Ser)
c.599T>C (p.Phe200Ser)
c.275T>C (p.Phe92Ser)
c.554T>C (p.Phe185Ser)
c.569T>C (p.Phe190Ser)
c.482T>C (p.Phe161Ser)
c.338T>C (p.Phe113Ser)
c.209T>C (p.Phe70Ser)
c.470T>C (p.Phe157Ser)
n.468T>C
n.50T>C
c.452T>C (p.Phe151Ser)
c.548T>C (p.Phe183Ser)
c.563T>C (p.Phe188Ser)
c.533T>C (p.Phe178Ser)
 ClinVar dbSNP gnomAD v4
7g.74046708T>GCA367870227ELNc.584T>G (p.Phe195Cys)
c.518T>G (p.Phe173Cys)
c.599T>G (p.Phe200Cys)
c.275T>G (p.Phe92Cys)
c.554T>G (p.Phe185Cys)
c.569T>G (p.Phe190Cys)
c.482T>G (p.Phe161Cys)
c.338T>G (p.Phe113Cys)
c.209T>G (p.Phe70Cys)
c.470T>G (p.Phe157Cys)
n.468T>G
n.50T>G
c.452T>G (p.Phe151Cys)
c.548T>G (p.Phe183Cys)
c.563T>G (p.Phe188Cys)
c.533T>G (p.Phe178Cys)
7g.74046708T=CA1717340879ELNc.584T= (p.Phe195=)
c.518T= (p.Phe173=)
c.599T= (p.Phe200=)
c.275T= (p.Phe92=)
c.554T= (p.Phe185=)
c.569T= (p.Phe190=)
c.482T= (p.Phe161=)
c.338T= (p.Phe113=)
c.209T= (p.Phe70=)
c.470T= (p.Phe157=)
n.468T=
n.50T=
c.452T= (p.Phe151=)
c.548T= (p.Phe183=)
c.563T= (p.Phe188=)
c.533T= (p.Phe178=)
7g.74046709T>ACA367870228ELNc.585T>A (p.Phe195Leu)
c.519T>A (p.Phe173Leu)
c.600T>A (p.Phe200Leu)
c.276T>A (p.Phe92Leu)
c.555T>A (p.Phe185Leu)
c.570T>A (p.Phe190Leu)
c.483T>A (p.Phe161Leu)
c.339T>A (p.Phe113Leu)
c.210T>A (p.Phe70Leu)
c.471T>A (p.Phe157Leu)
n.469T>A
n.51T>A
c.453T>A (p.Phe151Leu)
c.549T>A (p.Phe183Leu)
c.564T>A (p.Phe188Leu)
c.534T>A (p.Phe178Leu)
7g.74046709T>CCA4292580ELNc.585T>C (p.Phe195=)
c.519T>C (p.Phe173=)
c.600T>C (p.Phe200=)
c.276T>C (p.Phe92=)
c.555T>C (p.Phe185=)
c.570T>C (p.Phe190=)
c.483T>C (p.Phe161=)
c.339T>C (p.Phe113=)
c.210T>C (p.Phe70=)
c.471T>C (p.Phe157=)
n.469T>C
n.51T>C
c.453T>C (p.Phe151=)
c.549T>C (p.Phe183=)
c.564T>C (p.Phe188=)
c.534T>C (p.Phe178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046709T>GCA367870229ELNc.585T>G (p.Phe195Leu)
c.519T>G (p.Phe173Leu)
c.600T>G (p.Phe200Leu)
c.276T>G (p.Phe92Leu)
c.555T>G (p.Phe185Leu)
c.570T>G (p.Phe190Leu)
c.483T>G (p.Phe161Leu)
c.339T>G (p.Phe113Leu)
c.210T>G (p.Phe70Leu)
c.471T>G (p.Phe157Leu)
n.469T>G
n.51T>G
c.453T>G (p.Phe151Leu)
c.549T>G (p.Phe183Leu)
c.564T>G (p.Phe188Leu)
c.534T>G (p.Phe178Leu)
7g.74046709T=CA1717340880ELNc.585T= (p.Phe195=)
c.519T= (p.Phe173=)
c.600T= (p.Phe200=)
c.276T= (p.Phe92=)
c.555T= (p.Phe185=)
c.570T= (p.Phe190=)
c.483T= (p.Phe161=)
c.339T= (p.Phe113=)
c.210T= (p.Phe70=)
c.471T= (p.Phe157=)
n.469T=
n.51T=
c.453T= (p.Phe151=)
c.549T= (p.Phe183=)
c.564T= (p.Phe188=)
c.534T= (p.Phe178=)
7g.74046709_74046710delinsTGCA1717340881ELNc.585_586delinsTG (p.Phe195=)
c.519_520delinsTG (p.Phe173=)
c.600_601delinsTG (p.Phe200=)
c.276_277delinsTG (p.Phe92=)
c.555_556delinsTG (p.Phe185=)
c.570_571delinsTG (p.Phe190=)
c.483_484delinsTG (p.Phe161=)
c.339_340delinsTG (p.Phe113=)
c.210_211delinsTG (p.Phe70=)
c.471_472delinsTG (p.Phe157=)
n.469_470delinsTG
n.51_52delinsTG
c.453_454delinsTG (p.Phe151=)
c.549_550delinsTG (p.Phe183=)
c.564_565delinsTG (p.Phe188=)
c.534_535delinsTG (p.Phe178=)
7g.74046710G>ACA367870232ELNc.586G>A (p.Gly196Arg)
c.520G>A (p.Gly174Arg)
c.601G>A (p.Gly201Arg)
c.277G>A (p.Gly93Arg)
c.556G>A (p.Gly186Arg)
c.571G>A (p.Gly191Arg)
c.484G>A (p.Gly162Arg)
c.340G>A (p.Gly114Arg)
c.211G>A (p.Gly71Arg)
c.472G>A (p.Gly158Arg)
n.470G>A
n.52G>A
c.454G>A (p.Gly152Arg)
c.550G>A (p.Gly184Arg)
c.565G>A (p.Gly189Arg)
c.535G>A (p.Gly179Arg)
7g.74046710G>CCA367870230ELNc.586G>C (p.Gly196Arg)
c.520G>C (p.Gly174Arg)
c.601G>C (p.Gly201Arg)
c.277G>C (p.Gly93Arg)
c.556G>C (p.Gly186Arg)
c.571G>C (p.Gly191Arg)
c.484G>C (p.Gly162Arg)
c.340G>C (p.Gly114Arg)
c.211G>C (p.Gly71Arg)
c.472G>C (p.Gly158Arg)
n.470G>C
n.52G>C
c.454G>C (p.Gly152Arg)
c.550G>C (p.Gly184Arg)
c.565G>C (p.Gly189Arg)
c.535G>C (p.Gly179Arg)
 gnomAD v4
7g.74046710G=CA1717340882ELNc.586G= (p.Gly196=)
c.520G= (p.Gly174=)
c.601G= (p.Gly201=)
c.277G= (p.Gly93=)
c.556G= (p.Gly186=)
c.571G= (p.Gly191=)
c.484G= (p.Gly162=)
c.340G= (p.Gly114=)
c.211G= (p.Gly71=)
c.472G= (p.Gly158=)
n.470G=
n.52G=
c.454G= (p.Gly152=)
c.550G= (p.Gly184=)
c.565G= (p.Gly189=)
c.535G= (p.Gly179=)
7g.74046710G>TCA367870231ELNc.586G>T (p.Gly196Trp)
c.520G>T (p.Gly174Trp)
c.601G>T (p.Gly201Trp)
c.277G>T (p.Gly93Trp)
c.556G>T (p.Gly186Trp)
c.571G>T (p.Gly191Trp)
c.484G>T (p.Gly162Trp)
c.340G>T (p.Gly114Trp)
c.211G>T (p.Gly71Trp)
c.472G>T (p.Gly158Trp)
n.470G>T
n.52G>T
c.454G>T (p.Gly152Trp)
c.550G>T (p.Gly184Trp)
c.565G>T (p.Gly189Trp)
c.535G>T (p.Gly179Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.74046714delCA321008ELNc.590del (p.Gly197AspfsTer?)
c.524del (p.Gly175AspfsTer?)
c.605del (p.Gly202AspfsTer?)
c.281del (p.Gly94AspfsTer?)
c.560del (p.Gly187AspfsTer?)
c.575del (p.Gly192AspfsTer?)
c.488del (p.Gly163AspfsTer?)
c.344del (p.Gly115AspfsTer?)
c.215del (p.Gly72AspfsTer?)
c.476del (p.Gly159AspfsTer?)
n.474del
n.56del
c.458del (p.Gly153AspfsTer?)
c.554del (p.Gly185AspfsTer?)
c.569del (p.Gly190AspfsTer?)
c.539del (p.Gly180AspfsTer?)
 ClinVar dbSNP COSMIC COSMIC
7g.74046711G>ACA367870233ELNc.587G>A (p.Gly196Glu)
c.521G>A (p.Gly174Glu)
c.602G>A (p.Gly201Glu)
c.278G>A (p.Gly93Glu)
c.557G>A (p.Gly186Glu)
c.572G>A (p.Gly191Glu)
c.485G>A (p.Gly162Glu)
c.341G>A (p.Gly114Glu)
c.212G>A (p.Gly71Glu)
c.473G>A (p.Gly158Glu)
n.471G>A
n.53G>A
c.455G>A (p.Gly152Glu)
c.551G>A (p.Gly184Glu)
c.566G>A (p.Gly189Glu)
c.536G>A (p.Gly179Glu)
 dbSNP
7g.74046711G>CCA367870234ELNc.587G>C (p.Gly196Ala)
c.521G>C (p.Gly174Ala)
c.602G>C (p.Gly201Ala)
c.278G>C (p.Gly93Ala)
c.557G>C (p.Gly186Ala)
c.572G>C (p.Gly191Ala)
c.485G>C (p.Gly162Ala)
c.341G>C (p.Gly114Ala)
c.212G>C (p.Gly71Ala)
c.473G>C (p.Gly158Ala)
n.471G>C
n.53G>C
c.455G>C (p.Gly152Ala)
c.551G>C (p.Gly184Ala)
c.566G>C (p.Gly189Ala)
c.536G>C (p.Gly179Ala)
7g.74046711G=CA1717340883ELNc.587G= (p.Gly196=)
c.521G= (p.Gly174=)
c.602G= (p.Gly201=)
c.278G= (p.Gly93=)
c.557G= (p.Gly186=)
c.572G= (p.Gly191=)
c.485G= (p.Gly162=)
c.341G= (p.Gly114=)
c.212G= (p.Gly71=)
c.473G= (p.Gly158=)
n.471G=
n.53G=
c.455G= (p.Gly152=)
c.551G= (p.Gly184=)
c.566G= (p.Gly189=)
c.536G= (p.Gly179=)
7g.74046711G>TCA367870235ELNc.587G>T (p.Gly196Val)
c.521G>T (p.Gly174Val)
c.602G>T (p.Gly201Val)
c.278G>T (p.Gly93Val)
c.557G>T (p.Gly186Val)
c.572G>T (p.Gly191Val)
c.485G>T (p.Gly162Val)
c.341G>T (p.Gly114Val)
c.212G>T (p.Gly71Val)
c.473G>T (p.Gly158Val)
n.471G>T
n.53G>T
c.455G>T (p.Gly152Val)
c.551G>T (p.Gly184Val)
c.566G>T (p.Gly189Val)
c.536G>T (p.Gly179Val)
7g.74046712G>ACA455883359ELNc.588G>A (p.Gly196=)
c.522G>A (p.Gly174=)
c.603G>A (p.Gly201=)
c.279G>A (p.Gly93=)
c.558G>A (p.Gly186=)
c.573G>A (p.Gly191=)
c.486G>A (p.Gly162=)
c.342G>A (p.Gly114=)
c.213G>A (p.Gly71=)
c.474G>A (p.Gly158=)
n.472G>A
n.54G>A
c.456G>A (p.Gly152=)
c.552G>A (p.Gly184=)
c.567G>A (p.Gly189=)
c.537G>A (p.Gly179=)
7g.74046712G>CCA455883363ELNc.588G>C (p.Gly196=)
c.522G>C (p.Gly174=)
c.603G>C (p.Gly201=)
c.279G>C (p.Gly93=)
c.558G>C (p.Gly186=)
c.573G>C (p.Gly191=)
c.486G>C (p.Gly162=)
c.342G>C (p.Gly114=)
c.213G>C (p.Gly71=)
c.474G>C (p.Gly158=)
n.472G>C
n.54G>C
c.456G>C (p.Gly152=)
c.552G>C (p.Gly184=)
c.567G>C (p.Gly189=)
c.537G>C (p.Gly179=)
7g.74046712G>TCA455883361ELNc.588G>T (p.Gly196=)
c.522G>T (p.Gly174=)
c.603G>T (p.Gly201=)
c.279G>T (p.Gly93=)
c.558G>T (p.Gly186=)
c.573G>T (p.Gly191=)
c.486G>T (p.Gly162=)
c.342G>T (p.Gly114=)
c.213G>T (p.Gly71=)
c.474G>T (p.Gly158=)
n.472G>T
n.54G>T
c.456G>T (p.Gly152=)
c.552G>T (p.Gly184=)
c.567G>T (p.Gly189=)
c.537G>T (p.Gly179=)
7g.74046713G>ACA367870236ELNc.589G>A (p.Gly197Arg)
c.523G>A (p.Gly175Arg)
c.604G>A (p.Gly202Arg)
c.280G>A (p.Gly94Arg)
c.559G>A (p.Gly187Arg)
c.574G>A (p.Gly192Arg)
c.487G>A (p.Gly163Arg)
c.343G>A (p.Gly115Arg)
c.214G>A (p.Gly72Arg)
c.475G>A (p.Gly159Arg)
n.473G>A
n.55G>A
c.457G>A (p.Gly153Arg)
c.553G>A (p.Gly185Arg)
c.568G>A (p.Gly190Arg)
c.538G>A (p.Gly180Arg)
 gnomAD v4
7g.74046713G>CCA367870237ELNc.589G>C (p.Gly197Arg)
c.523G>C (p.Gly175Arg)
c.604G>C (p.Gly202Arg)
c.280G>C (p.Gly94Arg)
c.559G>C (p.Gly187Arg)
c.574G>C (p.Gly192Arg)
c.487G>C (p.Gly163Arg)
c.343G>C (p.Gly115Arg)
c.214G>C (p.Gly72Arg)
c.475G>C (p.Gly159Arg)
n.473G>C
n.55G>C
c.457G>C (p.Gly153Arg)
c.553G>C (p.Gly185Arg)
c.568G>C (p.Gly190Arg)
c.538G>C (p.Gly180Arg)
7g.74046713G>TCA367870238ELNc.589G>T (p.Gly197Ter)
c.523G>T (p.Gly175Ter)
c.604G>T (p.Gly202Ter)
c.280G>T (p.Gly94Ter)
c.559G>T (p.Gly187Ter)
c.574G>T (p.Gly192Ter)
c.487G>T (p.Gly163Ter)
c.343G>T (p.Gly115Ter)
c.214G>T (p.Gly72Ter)
c.475G>T (p.Gly159Ter)
n.473G>T
n.55G>T
c.457G>T (p.Gly153Ter)
c.553G>T (p.Gly185Ter)
c.568G>T (p.Gly190Ter)
c.538G>T (p.Gly180Ter)
7g.74046714G>ACA4292581ELNc.590G>A (p.Gly197Glu)
c.524G>A (p.Gly175Glu)
c.605G>A (p.Gly202Glu)
c.281G>A (p.Gly94Glu)
c.560G>A (p.Gly187Glu)
c.575G>A (p.Gly192Glu)
c.488G>A (p.Gly163Glu)
c.344G>A (p.Gly115Glu)
c.215G>A (p.Gly72Glu)
c.476G>A (p.Gly159Glu)
n.474G>A
n.56G>A
c.458G>A (p.Gly153Glu)
c.554G>A (p.Gly185Glu)
c.569G>A (p.Gly190Glu)
c.539G>A (p.Gly180Glu)
 ClinVar dbSNP ExAC gnomAD v4
7g.74046714G>CCA367870239ELNc.590G>C (p.Gly197Ala)
c.524G>C (p.Gly175Ala)
c.605G>C (p.Gly202Ala)
c.281G>C (p.Gly94Ala)
c.560G>C (p.Gly187Ala)
c.575G>C (p.Gly192Ala)
c.488G>C (p.Gly163Ala)
c.344G>C (p.Gly115Ala)
c.215G>C (p.Gly72Ala)
c.476G>C (p.Gly159Ala)
n.474G>C
n.56G>C
c.458G>C (p.Gly153Ala)
c.554G>C (p.Gly185Ala)
c.569G>C (p.Gly190Ala)
c.539G>C (p.Gly180Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.74046714G=CA1717340884ELNc.590G= (p.Gly197=)
c.524G= (p.Gly175=)
c.605G= (p.Gly202=)
c.281G= (p.Gly94=)
c.560G= (p.Gly187=)
c.575G= (p.Gly192=)
c.488G= (p.Gly163=)
c.344G= (p.Gly115=)
c.215G= (p.Gly72=)
c.476G= (p.Gly159=)
n.474G=
n.56G=
c.458G= (p.Gly153=)
c.554G= (p.Gly185=)
c.569G= (p.Gly190=)
c.539G= (p.Gly180=)
7g.74046714G>TCA367870240ELNc.590G>T (p.Gly197Val)
c.524G>T (p.Gly175Val)
c.605G>T (p.Gly202Val)
c.281G>T (p.Gly94Val)
c.560G>T (p.Gly187Val)
c.575G>T (p.Gly192Val)
c.488G>T (p.Gly163Val)
c.344G>T (p.Gly115Val)
c.215G>T (p.Gly72Val)
c.476G>T (p.Gly159Val)
n.474G>T
n.56G>T
c.458G>T (p.Gly153Val)
c.554G>T (p.Gly185Val)
c.569G>T (p.Gly190Val)
c.539G>T (p.Gly180Val)
7g.74046715delCA2695207872ELNc.591del (p.Pro198ArgfsTer?)
c.525del (p.Pro176ArgfsTer?)
c.606del (p.Pro203ArgfsTer?)
c.282del (p.Pro95ArgfsTer?)
c.561del (p.Pro188ArgfsTer?)
c.576del (p.Pro193ArgfsTer?)
c.489del (p.Pro164ArgfsTer?)
c.345del (p.Pro116ArgfsTer?)
c.216del (p.Pro73ArgfsTer?)
c.477del (p.Pro160ArgfsTer?)
n.475del
n.57del
c.459del (p.Pro154ArgfsTer?)
c.555del (p.Pro186ArgfsTer?)
c.570del (p.Pro191ArgfsTer?)
c.540del (p.Pro181ArgfsTer?)
7g.74046715A=CA1717340885ELNc.591A= (p.Gly197=)
c.525A= (p.Gly175=)
c.606A= (p.Gly202=)
c.282A= (p.Gly94=)
c.561A= (p.Gly187=)
c.576A= (p.Gly192=)
c.489A= (p.Gly163=)
c.345A= (p.Gly115=)
c.216A= (p.Gly72=)
c.477A= (p.Gly159=)
n.475A=
n.57A=
c.459A= (p.Gly153=)
c.555A= (p.Gly185=)
c.570A= (p.Gly190=)
c.540A= (p.Gly180=)
7g.74046715A>CCA455883378ELNc.591A>C (p.Gly197=)
c.525A>C (p.Gly175=)
c.606A>C (p.Gly202=)
c.282A>C (p.Gly94=)
c.561A>C (p.Gly187=)
c.576A>C (p.Gly192=)
c.489A>C (p.Gly163=)
c.345A>C (p.Gly115=)
c.216A>C (p.Gly72=)
c.477A>C (p.Gly159=)
n.475A>C
n.57A>C
c.459A>C (p.Gly153=)
c.555A>C (p.Gly185=)
c.570A>C (p.Gly190=)
c.540A>C (p.Gly180=)
7g.74046715A>GCA4292582ELNc.591A>G (p.Gly197=)
c.525A>G (p.Gly175=)
c.606A>G (p.Gly202=)
c.282A>G (p.Gly94=)
c.561A>G (p.Gly187=)
c.576A>G (p.Gly192=)
c.489A>G (p.Gly163=)
c.345A>G (p.Gly115=)
c.216A>G (p.Gly72=)
c.477A>G (p.Gly159=)
n.475A>G
n.57A>G
c.459A>G (p.Gly153=)
c.555A>G (p.Gly185=)
c.570A>G (p.Gly190=)
c.540A>G (p.Gly180=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.74046715A>TCA455883374ELNc.591A>T (p.Gly197=)
c.525A>T (p.Gly175=)
c.606A>T (p.Gly202=)
c.282A>T (p.Gly94=)
c.561A>T (p.Gly187=)
c.576A>T (p.Gly192=)
c.489A>T (p.Gly163=)
c.345A>T (p.Gly115=)
c.216A>T (p.Gly72=)
c.477A>T (p.Gly159=)
n.475A>T
n.57A>T
c.459A>T (p.Gly153=)
c.555A>T (p.Gly185=)
c.570A>T (p.Gly190=)
c.540A>T (p.Gly180=)
7g.74046716C>ACA367870242ELNc.592C>A (p.Pro198Thr)
c.526C>A (p.Pro176Thr)
c.607C>A (p.Pro203Thr)
c.283C>A (p.Pro95Thr)
c.562C>A (p.Pro188Thr)
c.577C>A (p.Pro193Thr)
c.490C>A (p.Pro164Thr)
c.346C>A (p.Pro116Thr)
c.217C>A (p.Pro73Thr)
c.478C>A (p.Pro160Thr)
n.476C>A
n.58C>A
c.460C>A (p.Pro154Thr)
c.556C>A (p.Pro186Thr)
c.571C>A (p.Pro191Thr)
c.541C>A (p.Pro181Thr)
7g.74046716C=CA1717340886ELNc.592C= (p.Pro198=)
c.526C= (p.Pro176=)
c.607C= (p.Pro203=)
c.283C= (p.Pro95=)
c.562C= (p.Pro188=)
c.577C= (p.Pro193=)
c.490C= (p.Pro164=)
c.346C= (p.Pro116=)
c.217C= (p.Pro73=)
c.478C= (p.Pro160=)
n.476C=
n.58C=
c.460C= (p.Pro154=)
c.556C= (p.Pro186=)
c.571C= (p.Pro191=)
c.541C= (p.Pro181=)
7g.74046716C>GCA367870241ELNc.592C>G (p.Pro198Ala)
c.526C>G (p.Pro176Ala)
c.607C>G (p.Pro203Ala)
c.283C>G (p.Pro95Ala)
c.562C>G (p.Pro188Ala)
c.577C>G (p.Pro193Ala)
c.490C>G (p.Pro164Ala)
c.346C>G (p.Pro116Ala)
c.217C>G (p.Pro73Ala)
c.478C>G (p.Pro160Ala)
n.476C>G
n.58C>G
c.460C>G (p.Pro154Ala)
c.556C>G (p.Pro186Ala)
c.571C>G (p.Pro191Ala)
c.541C>G (p.Pro181Ala)
7g.74046716C>TCA4292583ELNc.592C>T (p.Pro198Ser)
c.526C>T (p.Pro176Ser)
c.607C>T (p.Pro203Ser)
c.283C>T (p.Pro95Ser)
c.562C>T (p.Pro188Ser)
c.577C>T (p.Pro193Ser)
c.490C>T (p.Pro164Ser)
c.346C>T (p.Pro116Ser)
c.217C>T (p.Pro73Ser)
c.478C>T (p.Pro160Ser)
n.476C>T
n.58C>T
c.460C>T (p.Pro154Ser)
c.556C>T (p.Pro186Ser)
c.571C>T (p.Pro191Ser)
c.541C>T (p.Pro181Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.74046717C>ACA367870243ELNc.593C>A (p.Pro198Gln)
c.527C>A (p.Pro176Gln)
c.608C>A (p.Pro203Gln)
c.284C>A (p.Pro95Gln)
c.563C>A (p.Pro188Gln)
c.578C>A (p.Pro193Gln)
c.491C>A (p.Pro164Gln)
c.347C>A (p.Pro116Gln)
c.218C>A (p.Pro73Gln)
c.479C>A (p.Pro160Gln)
n.477C>A
n.59C>A
c.461C>A (p.Pro154Gln)
c.557C>A (p.Pro186Gln)
c.572C>A (p.Pro191Gln)
c.542C>A (p.Pro181Gln)
7g.74046717C=CA1717340887ELNc.593C= (p.Pro198=)
c.527C= (p.Pro176=)
c.608C= (p.Pro203=)
c.284C= (p.Pro95=)
c.563C= (p.Pro188=)
c.578C= (p.Pro193=)
c.491C= (p.Pro164=)
c.347C= (p.Pro116=)
c.218C= (p.Pro73=)
c.479C= (p.Pro160=)
n.477C=
n.59C=
c.461C= (p.Pro154=)
c.557C= (p.Pro186=)
c.572C= (p.Pro191=)
c.542C= (p.Pro181=)
7g.74046717C>GCA367870244ELNc.593C>G (p.Pro198Arg)
c.527C>G (p.Pro176Arg)
c.608C>G (p.Pro203Arg)
c.284C>G (p.Pro95Arg)
c.563C>G (p.Pro188Arg)
c.578C>G (p.Pro193Arg)
c.491C>G (p.Pro164Arg)
c.347C>G (p.Pro116Arg)
c.218C>G (p.Pro73Arg)
c.479C>G (p.Pro160Arg)
n.477C>G
n.59C>G
c.461C>G (p.Pro154Arg)
c.557C>G (p.Pro186Arg)
c.572C>G (p.Pro191Arg)
c.542C>G (p.Pro181Arg)
7g.74046717C>TCA4292584ELNc.593C>T (p.Pro198Leu)
c.527C>T (p.Pro176Leu)
c.608C>T (p.Pro203Leu)
c.284C>T (p.Pro95Leu)
c.563C>T (p.Pro188Leu)
c.578C>T (p.Pro193Leu)
c.491C>T (p.Pro164Leu)
c.347C>T (p.Pro116Leu)
c.218C>T (p.Pro73Leu)
c.479C>T (p.Pro160Leu)
n.477C>T
n.59C>T
c.461C>T (p.Pro154Leu)
c.557C>T (p.Pro186Leu)
c.572C>T (p.Pro191Leu)
c.542C>T (p.Pro181Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046718G>ACA4292586ELNc.594G>A (p.Pro198=)
c.528G>A (p.Pro176=)
c.609G>A (p.Pro203=)
c.285G>A (p.Pro95=)
c.564G>A (p.Pro188=)
c.579G>A (p.Pro193=)
c.492G>A (p.Pro164=)
c.348G>A (p.Pro116=)
c.219G>A (p.Pro73=)
c.480G>A (p.Pro160=)
n.478G>A
n.60G>A
c.462G>A (p.Pro154=)
c.558G>A (p.Pro186=)
c.573G>A (p.Pro191=)
c.543G>A (p.Pro181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046718G>CCA455883386ELNc.594G>C (p.Pro198=)
c.528G>C (p.Pro176=)
c.609G>C (p.Pro203=)
c.285G>C (p.Pro95=)
c.564G>C (p.Pro188=)
c.579G>C (p.Pro193=)
c.492G>C (p.Pro164=)
c.348G>C (p.Pro116=)
c.219G>C (p.Pro73=)
c.480G>C (p.Pro160=)
n.478G>C
n.60G>C
c.462G>C (p.Pro154=)
c.558G>C (p.Pro186=)
c.573G>C (p.Pro191=)
c.543G>C (p.Pro181=)
7g.74046718G=CA1717340888ELNc.594G= (p.Pro198=)
c.528G= (p.Pro176=)
c.609G= (p.Pro203=)
c.285G= (p.Pro95=)
c.564G= (p.Pro188=)
c.579G= (p.Pro193=)
c.492G= (p.Pro164=)
c.348G= (p.Pro116=)
c.219G= (p.Pro73=)
c.480G= (p.Pro160=)
n.478G=
n.60G=
c.462G= (p.Pro154=)
c.558G= (p.Pro186=)
c.573G= (p.Pro191=)
c.543G= (p.Pro181=)
7g.74046718G>TCA4292585ELNc.594G>T (p.Pro198=)
c.528G>T (p.Pro176=)
c.609G>T (p.Pro203=)
c.285G>T (p.Pro95=)
c.564G>T (p.Pro188=)
c.579G>T (p.Pro193=)
c.492G>T (p.Pro164=)
c.348G>T (p.Pro116=)
c.219G>T (p.Pro73=)
c.480G>T (p.Pro160=)
n.478G>T
n.60G>T
c.462G>T (p.Pro154=)
c.558G>T (p.Pro186=)
c.573G>T (p.Pro191=)
c.543G>T (p.Pro181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046719C>ACA367870245ELNc.595C>A (p.Gln199Lys)
c.529C>A (p.Gln177Lys)
c.610C>A (p.Gln204Lys)
c.286C>A (p.Gln96Lys)
c.565C>A (p.Gln189Lys)
c.580C>A (p.Gln194Lys)
c.493C>A (p.Gln165Lys)
c.349C>A (p.Gln117Lys)
c.220C>A (p.Gln74Lys)
c.481C>A (p.Gln161Lys)
n.479C>A
n.61C>A
c.463C>A (p.Gln155Lys)
c.559C>A (p.Gln187Lys)
c.574C>A (p.Gln192Lys)
c.544C>A (p.Gln182Lys)
7g.74046719C>GCA367870246ELNc.595C>G (p.Gln199Glu)
c.529C>G (p.Gln177Glu)
c.610C>G (p.Gln204Glu)
c.286C>G (p.Gln96Glu)
c.565C>G (p.Gln189Glu)
c.580C>G (p.Gln194Glu)
c.493C>G (p.Gln165Glu)
c.349C>G (p.Gln117Glu)
c.220C>G (p.Gln74Glu)
c.481C>G (p.Gln161Glu)
n.479C>G
n.61C>G
c.463C>G (p.Gln155Glu)
c.559C>G (p.Gln187Glu)
c.574C>G (p.Gln192Glu)
c.544C>G (p.Gln182Glu)
7g.74046719C>TCA367870247ELNc.595C>T (p.Gln199Ter)
c.529C>T (p.Gln177Ter)
c.610C>T (p.Gln204Ter)
c.286C>T (p.Gln96Ter)
c.565C>T (p.Gln189Ter)
c.580C>T (p.Gln194Ter)
c.493C>T (p.Gln165Ter)
c.349C>T (p.Gln117Ter)
c.220C>T (p.Gln74Ter)
c.481C>T (p.Gln161Ter)
n.479C>T
n.61C>T
c.463C>T (p.Gln155Ter)
c.559C>T (p.Gln187Ter)
c.574C>T (p.Gln192Ter)
c.544C>T (p.Gln182Ter)
7g.74046720A>CCA367870248ELNc.596A>C (p.Gln199Pro)
c.530A>C (p.Gln177Pro)
c.611A>C (p.Gln204Pro)
c.287A>C (p.Gln96Pro)
c.566A>C (p.Gln189Pro)
c.581A>C (p.Gln194Pro)
c.494A>C (p.Gln165Pro)
c.350A>C (p.Gln117Pro)
c.221A>C (p.Gln74Pro)
c.482A>C (p.Gln161Pro)
n.480A>C
n.62A>C
c.464A>C (p.Gln155Pro)
c.560A>C (p.Gln187Pro)
c.575A>C (p.Gln192Pro)
c.545A>C (p.Gln182Pro)
7g.74046720A>GCA367870249ELNc.596A>G (p.Gln199Arg)
c.530A>G (p.Gln177Arg)
c.611A>G (p.Gln204Arg)
c.287A>G (p.Gln96Arg)
c.566A>G (p.Gln189Arg)
c.581A>G (p.Gln194Arg)
c.494A>G (p.Gln165Arg)
c.350A>G (p.Gln117Arg)
c.221A>G (p.Gln74Arg)
c.482A>G (p.Gln161Arg)
n.480A>G
n.62A>G
c.464A>G (p.Gln155Arg)
c.560A>G (p.Gln187Arg)
c.575A>G (p.Gln192Arg)
c.545A>G (p.Gln182Arg)
7g.74046720A>TCA367870250ELNc.596A>T (p.Gln199Leu)
c.530A>T (p.Gln177Leu)
c.611A>T (p.Gln204Leu)
c.287A>T (p.Gln96Leu)
c.566A>T (p.Gln189Leu)
c.581A>T (p.Gln194Leu)
c.494A>T (p.Gln165Leu)
c.350A>T (p.Gln117Leu)
c.221A>T (p.Gln74Leu)
c.482A>T (p.Gln161Leu)
n.480A>T
n.62A>T
c.464A>T (p.Gln155Leu)
c.560A>T (p.Gln187Leu)
c.575A>T (p.Gln192Leu)
c.545A>T (p.Gln182Leu)
7g.74046721A>CCA367870251ELNc.597A>C (p.Gln199His)
c.531A>C (p.Gln177His)
c.612A>C (p.Gln204His)
c.288A>C (p.Gln96His)
c.567A>C (p.Gln189His)
c.582A>C (p.Gln194His)
c.495A>C (p.Gln165His)
c.351A>C (p.Gln117His)
c.222A>C (p.Gln74His)
c.483A>C (p.Gln161His)
n.481A>C
n.63A>C
c.465A>C (p.Gln155His)
c.561A>C (p.Gln187His)
c.576A>C (p.Gln192His)
c.546A>C (p.Gln182His)
 COSMIC
7g.74046721A>GCA455883398ELNc.597A>G (p.Gln199=)
c.531A>G (p.Gln177=)
c.612A>G (p.Gln204=)
c.288A>G (p.Gln96=)
c.567A>G (p.Gln189=)
c.582A>G (p.Gln194=)
c.495A>G (p.Gln165=)
c.351A>G (p.Gln117=)
c.222A>G (p.Gln74=)
c.483A>G (p.Gln161=)
n.481A>G
n.63A>G
c.465A>G (p.Gln155=)
c.561A>G (p.Gln187=)
c.576A>G (p.Gln192=)
c.546A>G (p.Gln182=)
7g.74046721A>TCA367870252ELNc.597A>T (p.Gln199His)
c.531A>T (p.Gln177His)
c.612A>T (p.Gln204His)
c.288A>T (p.Gln96His)
c.567A>T (p.Gln189His)
c.582A>T (p.Gln194His)
c.495A>T (p.Gln165His)
c.351A>T (p.Gln117His)
c.222A>T (p.Gln74His)
c.483A>T (p.Gln161His)
n.481A>T
n.63A>T
c.465A>T (p.Gln155His)
c.561A>T (p.Gln187His)
c.576A>T (p.Gln192His)
c.546A>T (p.Gln182His)
7g.74046722C>ACA367870255ELNc.598C>A (p.Pro200Thr)
c.532C>A (p.Pro178Thr)
c.613C>A (p.Pro205Thr)
c.289C>A (p.Pro97Thr)
c.568C>A (p.Pro190Thr)
c.583C>A (p.Pro195Thr)
c.496C>A (p.Pro166Thr)
c.352C>A (p.Pro118Thr)
c.223C>A (p.Pro75Thr)
c.484C>A (p.Pro162Thr)
n.482C>A
n.64C>A
c.466C>A (p.Pro156Thr)
c.562C>A (p.Pro188Thr)
c.577C>A (p.Pro193Thr)
c.547C>A (p.Pro183Thr)
7g.74046722C=CA1717340889ELNc.598C= (p.Pro200=)
c.532C= (p.Pro178=)
c.613C= (p.Pro205=)
c.289C= (p.Pro97=)
c.568C= (p.Pro190=)
c.583C= (p.Pro195=)
c.496C= (p.Pro166=)
c.352C= (p.Pro118=)
c.223C= (p.Pro75=)
c.484C= (p.Pro162=)
n.482C=
n.64C=
c.466C= (p.Pro156=)
c.562C= (p.Pro188=)
c.577C= (p.Pro193=)
c.547C= (p.Pro183=)
7g.74046722C>GCA367870253ELNc.598C>G (p.Pro200Ala)
c.532C>G (p.Pro178Ala)
c.613C>G (p.Pro205Ala)
c.289C>G (p.Pro97Ala)
c.568C>G (p.Pro190Ala)
c.583C>G (p.Pro195Ala)
c.496C>G (p.Pro166Ala)
c.352C>G (p.Pro118Ala)
c.223C>G (p.Pro75Ala)
c.484C>G (p.Pro162Ala)
n.482C>G
n.64C>G
c.466C>G (p.Pro156Ala)
c.562C>G (p.Pro188Ala)
c.577C>G (p.Pro193Ala)
c.547C>G (p.Pro183Ala)
 gnomAD v4
7g.74046722C>TCA367870254ELNc.598C>T (p.Pro200Ser)
c.532C>T (p.Pro178Ser)
c.613C>T (p.Pro205Ser)
c.289C>T (p.Pro97Ser)
c.568C>T (p.Pro190Ser)
c.583C>T (p.Pro195Ser)
c.496C>T (p.Pro166Ser)
c.352C>T (p.Pro118Ser)
c.223C>T (p.Pro75Ser)
c.484C>T (p.Pro162Ser)
n.482C>T
n.64C>T
c.466C>T (p.Pro156Ser)
c.562C>T (p.Pro188Ser)
c.577C>T (p.Pro193Ser)
c.547C>T (p.Pro183Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.74046723C>ACA367870256ELNc.599C>A (p.Pro200His)
c.533C>A (p.Pro178His)
c.614C>A (p.Pro205His)
c.290C>A (p.Pro97His)
c.569C>A (p.Pro190His)
c.584C>A (p.Pro195His)
c.497C>A (p.Pro166His)
c.353C>A (p.Pro118His)
c.224C>A (p.Pro75His)
c.485C>A (p.Pro162His)
n.483C>A
n.65C>A
c.467C>A (p.Pro156His)
c.563C>A (p.Pro188His)
c.578C>A (p.Pro193His)
c.548C>A (p.Pro183His)
 gnomAD v4
7g.74046723C=CA1717340890ELNc.599C= (p.Pro200=)
c.533C= (p.Pro178=)
c.614C= (p.Pro205=)
c.290C= (p.Pro97=)
c.569C= (p.Pro190=)
c.584C= (p.Pro195=)
c.497C= (p.Pro166=)
c.353C= (p.Pro118=)
c.224C= (p.Pro75=)
c.485C= (p.Pro162=)
n.483C=
n.65C=
c.467C= (p.Pro156=)
c.563C= (p.Pro188=)
c.578C= (p.Pro193=)
c.548C= (p.Pro183=)
7g.74046723C>GCA367870257ELNc.599C>G (p.Pro200Arg)
c.533C>G (p.Pro178Arg)
c.614C>G (p.Pro205Arg)
c.290C>G (p.Pro97Arg)
c.569C>G (p.Pro190Arg)
c.584C>G (p.Pro195Arg)
c.497C>G (p.Pro166Arg)
c.353C>G (p.Pro118Arg)
c.224C>G (p.Pro75Arg)
c.485C>G (p.Pro162Arg)
n.483C>G
n.65C>G
c.467C>G (p.Pro156Arg)
c.563C>G (p.Pro188Arg)
c.578C>G (p.Pro193Arg)
c.548C>G (p.Pro183Arg)
 dbSNP gnomAD v4
7g.74046723C>TCA367870258ELNc.599C>T (p.Pro200Leu)
c.533C>T (p.Pro178Leu)
c.614C>T (p.Pro205Leu)
c.290C>T (p.Pro97Leu)
c.569C>T (p.Pro190Leu)
c.584C>T (p.Pro195Leu)
c.497C>T (p.Pro166Leu)
c.353C>T (p.Pro118Leu)
c.224C>T (p.Pro75Leu)
c.485C>T (p.Pro162Leu)
n.483C>T
n.65C>T
c.467C>T (p.Pro156Leu)
c.563C>T (p.Pro188Leu)
c.578C>T (p.Pro193Leu)
c.548C>T (p.Pro183Leu)
7g.74046724T>ACA455883404ELNc.600T>A (p.Pro200=)
c.534T>A (p.Pro178=)
c.615T>A (p.Pro205=)
c.291T>A (p.Pro97=)
c.570T>A (p.Pro190=)
c.585T>A (p.Pro195=)
c.498T>A (p.Pro166=)
c.354T>A (p.Pro118=)
c.225T>A (p.Pro75=)
c.486T>A (p.Pro162=)
n.484T>A
n.66T>A
c.468T>A (p.Pro156=)
c.564T>A (p.Pro188=)
c.579T>A (p.Pro193=)
c.549T>A (p.Pro183=)
7g.74046724T>CCA455883406ELNc.600T>C (p.Pro200=)
c.534T>C (p.Pro178=)
c.615T>C (p.Pro205=)
c.291T>C (p.Pro97=)
c.570T>C (p.Pro190=)
c.585T>C (p.Pro195=)
c.498T>C (p.Pro166=)
c.354T>C (p.Pro118=)
c.225T>C (p.Pro75=)
c.486T>C (p.Pro162=)
n.484T>C
n.66T>C
c.468T>C (p.Pro156=)
c.564T>C (p.Pro188=)
c.579T>C (p.Pro193=)
c.549T>C (p.Pro183=)
7g.74046724T>GCA455883408ELNc.600T>G (p.Pro200=)
c.534T>G (p.Pro178=)
c.615T>G (p.Pro205=)
c.291T>G (p.Pro97=)
c.570T>G (p.Pro190=)
c.585T>G (p.Pro195=)
c.498T>G (p.Pro166=)
c.354T>G (p.Pro118=)
c.225T>G (p.Pro75=)
c.486T>G (p.Pro162=)
n.484T>G
n.66T>G
c.468T>G (p.Pro156=)
c.564T>G (p.Pro188=)
c.579T>G (p.Pro193=)
c.549T>G (p.Pro183=)
7g.74046725G>ACA367870259ELNc.601G>A (p.Gly201Arg)
c.535G>A (p.Gly179Arg)
c.616G>A (p.Gly206Arg)
c.292G>A (p.Gly98Arg)
c.571G>A (p.Gly191Arg)
c.586G>A (p.Gly196Arg)
c.499G>A (p.Gly167Arg)
c.355G>A (p.Gly119Arg)
c.226G>A (p.Gly76Arg)
c.487G>A (p.Gly163Arg)
n.485G>A
n.67G>A
c.469G>A (p.Gly157Arg)
c.565G>A (p.Gly189Arg)
c.580G>A (p.Gly194Arg)
c.550G>A (p.Gly184Arg)
 gnomAD v4
7g.74046725G>CCA367870260ELNc.601G>C (p.Gly201Arg)
c.535G>C (p.Gly179Arg)
c.616G>C (p.Gly206Arg)
c.292G>C (p.Gly98Arg)
c.571G>C (p.Gly191Arg)
c.586G>C (p.Gly196Arg)
c.499G>C (p.Gly167Arg)
c.355G>C (p.Gly119Arg)
c.226G>C (p.Gly76Arg)
c.487G>C (p.Gly163Arg)
n.485G>C
n.67G>C
c.469G>C (p.Gly157Arg)
c.565G>C (p.Gly189Arg)
c.580G>C (p.Gly194Arg)
c.550G>C (p.Gly184Arg)
 gnomAD v4
7g.74046725G>TCA367870261ELNc.601G>T (p.Gly201Ter)
c.535G>T (p.Gly179Ter)
c.616G>T (p.Gly206Ter)
c.292G>T (p.Gly98Ter)
c.571G>T (p.Gly191Ter)
c.586G>T (p.Gly196Ter)
c.499G>T (p.Gly167Ter)
c.355G>T (p.Gly119Ter)
c.226G>T (p.Gly76Ter)
c.487G>T (p.Gly163Ter)
n.485G>T
n.67G>T
c.469G>T (p.Gly157Ter)
c.565G>T (p.Gly189Ter)
c.580G>T (p.Gly194Ter)
c.550G>T (p.Gly184Ter)
7g.74046726G>ACA367870262ELNc.602G>A (p.Gly201Glu)
c.536G>A (p.Gly179Glu)
c.617G>A (p.Gly206Glu)
c.293G>A (p.Gly98Glu)
c.572G>A (p.Gly191Glu)
c.587G>A (p.Gly196Glu)
c.500G>A (p.Gly167Glu)
c.356G>A (p.Gly119Glu)
c.227G>A (p.Gly76Glu)
c.488G>A (p.Gly163Glu)
n.486G>A
n.68G>A
c.470G>A (p.Gly157Glu)
c.566G>A (p.Gly189Glu)
c.581G>A (p.Gly194Glu)
c.551G>A (p.Gly184Glu)
 gnomAD v4
7g.74046726G>CCA367870263ELNc.602G>C (p.Gly201Ala)
c.536G>C (p.Gly179Ala)
c.617G>C (p.Gly206Ala)
c.293G>C (p.Gly98Ala)
c.572G>C (p.Gly191Ala)
c.587G>C (p.Gly196Ala)
c.500G>C (p.Gly167Ala)
c.356G>C (p.Gly119Ala)
c.227G>C (p.Gly76Ala)
c.488G>C (p.Gly163Ala)
n.486G>C
n.68G>C
c.470G>C (p.Gly157Ala)
c.566G>C (p.Gly189Ala)
c.581G>C (p.Gly194Ala)
c.551G>C (p.Gly184Ala)
 ClinVar dbSNP
7g.74046726G=CA1717340891ELNc.602G= (p.Gly201=)
c.536G= (p.Gly179=)
c.617G= (p.Gly206=)
c.293G= (p.Gly98=)
c.572G= (p.Gly191=)
c.587G= (p.Gly196=)
c.500G= (p.Gly167=)
c.356G= (p.Gly119=)
c.227G= (p.Gly76=)
c.488G= (p.Gly163=)
n.486G=
n.68G=
c.470G= (p.Gly157=)
c.566G= (p.Gly189=)
c.581G= (p.Gly194=)
c.551G= (p.Gly184=)
7g.74046726G>TCA367870264ELNc.602G>T (p.Gly201Val)
c.536G>T (p.Gly179Val)
c.617G>T (p.Gly206Val)
c.293G>T (p.Gly98Val)
c.572G>T (p.Gly191Val)
c.587G>T (p.Gly196Val)
c.500G>T (p.Gly167Val)
c.356G>T (p.Gly119Val)
c.227G>T (p.Gly76Val)
c.488G>T (p.Gly163Val)
n.486G>T
n.68G>T
c.470G>T (p.Gly157Val)
c.566G>T (p.Gly189Val)
c.581G>T (p.Gly194Val)
c.551G>T (p.Gly184Val)
7g.74046727A=CA1717340892ELNc.603A= (p.Gly201=)
c.537A= (p.Gly179=)
c.618A= (p.Gly206=)
c.294A= (p.Gly98=)
c.573A= (p.Gly191=)
c.588A= (p.Gly196=)
c.501A= (p.Gly167=)
c.357A= (p.Gly119=)
c.228A= (p.Gly76=)
c.489A= (p.Gly163=)
n.487A=
n.69A=
c.471A= (p.Gly157=)
c.567A= (p.Gly189=)
c.582A= (p.Gly194=)
c.552A= (p.Gly184=)
7g.74046727A>CCA455883415ELNc.603A>C (p.Gly201=)
c.537A>C (p.Gly179=)
c.618A>C (p.Gly206=)
c.294A>C (p.Gly98=)
c.573A>C (p.Gly191=)
c.588A>C (p.Gly196=)
c.501A>C (p.Gly167=)
c.357A>C (p.Gly119=)
c.228A>C (p.Gly76=)
c.489A>C (p.Gly163=)
n.487A>C
n.69A>C
c.471A>C (p.Gly157=)
c.567A>C (p.Gly189=)
c.582A>C (p.Gly194=)
c.552A>C (p.Gly184=)
7g.74046727A>GCA455883417ELNc.603A>G (p.Gly201=)
c.537A>G (p.Gly179=)
c.618A>G (p.Gly206=)
c.294A>G (p.Gly98=)
c.573A>G (p.Gly191=)
c.588A>G (p.Gly196=)
c.501A>G (p.Gly167=)
c.357A>G (p.Gly119=)
c.228A>G (p.Gly76=)
c.489A>G (p.Gly163=)
n.487A>G
n.69A>G
c.471A>G (p.Gly157=)
c.567A>G (p.Gly189=)
c.582A>G (p.Gly194=)
c.552A>G (p.Gly184=)
 dbSNP gnomAD v3 gnomAD v4
7g.74046727A>TCA455883419ELNc.603A>T (p.Gly201=)
c.537A>T (p.Gly179=)
c.618A>T (p.Gly206=)
c.294A>T (p.Gly98=)
c.573A>T (p.Gly191=)
c.588A>T (p.Gly196=)
c.501A>T (p.Gly167=)
c.357A>T (p.Gly119=)
c.228A>T (p.Gly76=)
c.489A>T (p.Gly163=)
n.487A>T
n.69A>T
c.471A>T (p.Gly157=)
c.567A>T (p.Gly189=)
c.582A>T (p.Gly194=)
c.552A>T (p.Gly184=)
7g.74046728G>ACA367870265ELNc.604G>A (p.Val202Ile)
c.538G>A (p.Val180Ile)
c.619G>A (p.Val207Ile)
c.295G>A (p.Val99Ile)
c.574G>A (p.Val192Ile)
c.589G>A (p.Val197Ile)
c.502G>A (p.Val168Ile)
c.358G>A (p.Val120Ile)
c.229G>A (p.Val77Ile)
c.490G>A (p.Val164Ile)
n.488G>A
n.70G>A
c.472G>A (p.Val158Ile)
c.568G>A (p.Val190Ile)
c.583G>A (p.Val195Ile)
c.553G>A (p.Val185Ile)
7g.74046728G>CCA367870266ELNc.604G>C (p.Val202Leu)
c.538G>C (p.Val180Leu)
c.619G>C (p.Val207Leu)
c.295G>C (p.Val99Leu)
c.574G>C (p.Val192Leu)
c.589G>C (p.Val197Leu)
c.502G>C (p.Val168Leu)
c.358G>C (p.Val120Leu)
c.229G>C (p.Val77Leu)
c.490G>C (p.Val164Leu)
n.488G>C
n.70G>C
c.472G>C (p.Val158Leu)
c.568G>C (p.Val190Leu)
c.583G>C (p.Val195Leu)
c.553G>C (p.Val185Leu)
7g.74046728G>TCA367870267ELNc.604G>T (p.Val202Phe)
c.538G>T (p.Val180Phe)
c.619G>T (p.Val207Phe)
c.295G>T (p.Val99Phe)
c.574G>T (p.Val192Phe)
c.589G>T (p.Val197Phe)
c.502G>T (p.Val168Phe)
c.358G>T (p.Val120Phe)
c.229G>T (p.Val77Phe)
c.490G>T (p.Val164Phe)
n.488G>T
n.70G>T
c.472G>T (p.Val158Phe)
c.568G>T (p.Val190Phe)
c.583G>T (p.Val195Phe)
c.553G>T (p.Val185Phe)
7g.74046729T>ACA367870269ELNc.605T>A (p.Val202Asp)
c.539T>A (p.Val180Asp)
c.620T>A (p.Val207Asp)
c.296T>A (p.Val99Asp)
c.575T>A (p.Val192Asp)
c.590T>A (p.Val197Asp)
c.503T>A (p.Val168Asp)
c.359T>A (p.Val120Asp)
c.230T>A (p.Val77Asp)
c.491T>A (p.Val164Asp)
n.489T>A
n.71T>A
c.473T>A (p.Val158Asp)
c.569T>A (p.Val190Asp)
c.584T>A (p.Val195Asp)
c.554T>A (p.Val185Asp)
7g.74046729T>CCA367870270ELNc.605T>C (p.Val202Ala)
c.539T>C (p.Val180Ala)
c.620T>C (p.Val207Ala)
c.296T>C (p.Val99Ala)
c.575T>C (p.Val192Ala)
c.590T>C (p.Val197Ala)
c.503T>C (p.Val168Ala)
c.359T>C (p.Val120Ala)
c.230T>C (p.Val77Ala)
c.491T>C (p.Val164Ala)
n.489T>C
n.71T>C
c.473T>C (p.Val158Ala)
c.569T>C (p.Val190Ala)
c.584T>C (p.Val195Ala)
c.554T>C (p.Val185Ala)
7g.74046729T>GCA367870268ELNc.605T>G (p.Val202Gly)
c.539T>G (p.Val180Gly)
c.620T>G (p.Val207Gly)
c.296T>G (p.Val99Gly)
c.575T>G (p.Val192Gly)
c.590T>G (p.Val197Gly)
c.503T>G (p.Val168Gly)
c.359T>G (p.Val120Gly)
c.230T>G (p.Val77Gly)
c.491T>G (p.Val164Gly)
n.489T>G
n.71T>G
c.473T>G (p.Val158Gly)
c.569T>G (p.Val190Gly)
c.584T>G (p.Val195Gly)
c.554T>G (p.Val185Gly)
7g.74046729_74046730delinsTCCA1717340893ELNc.605_606delinsTC (p.Val202=)
c.539_540delinsTC (p.Val180=)
c.620_621delinsTC (p.Val207=)
c.296_297delinsTC (p.Val99=)
c.575_576delinsTC (p.Val192=)
c.590_591delinsTC (p.Val197=)
c.503_504delinsTC (p.Val168=)
c.359_360delinsTC (p.Val120=)
c.230_231delinsTC (p.Val77=)
c.491_492delinsTC (p.Val164=)
n.489_490delinsTC
n.71_72delinsTC
c.473_474delinsTC (p.Val158=)
c.569_570delinsTC (p.Val190=)
c.584_585delinsTC (p.Val195=)
c.554_555delinsTC (p.Val185=)
7g.74046730C>ACA455883427ELNc.606C>A (p.Val202=)
c.540C>A (p.Val180=)
c.621C>A (p.Val207=)
c.297C>A (p.Val99=)
c.576C>A (p.Val192=)
c.591C>A (p.Val197=)
c.504C>A (p.Val168=)
c.360C>A (p.Val120=)
c.231C>A (p.Val77=)
c.492C>A (p.Val164=)
n.490C>A
n.72C>A
c.474C>A (p.Val158=)
c.570C>A (p.Val190=)
c.585C>A (p.Val195=)
c.555C>A (p.Val185=)
 dbSNP gnomAD v3 gnomAD v4
7g.74046730C=CA1717340894ELNc.606C= (p.Val202=)
c.540C= (p.Val180=)
c.621C= (p.Val207=)
c.297C= (p.Val99=)
c.576C= (p.Val192=)
c.591C= (p.Val197=)
c.504C= (p.Val168=)
c.360C= (p.Val120=)
c.231C= (p.Val77=)
c.492C= (p.Val164=)
n.490C=
n.72C=
c.474C= (p.Val158=)
c.570C= (p.Val190=)
c.585C= (p.Val195=)
c.555C= (p.Val185=)
7g.74046730C>GCA455883429ELNc.606C>G (p.Val202=)
c.540C>G (p.Val180=)
c.621C>G (p.Val207=)
c.297C>G (p.Val99=)
c.576C>G (p.Val192=)
c.591C>G (p.Val197=)
c.504C>G (p.Val168=)
c.360C>G (p.Val120=)
c.231C>G (p.Val77=)
c.492C>G (p.Val164=)
n.490C>G
n.72C>G
c.474C>G (p.Val158=)
c.570C>G (p.Val190=)
c.585C>G (p.Val195=)
c.555C>G (p.Val185=)
7g.74046730C>TCA160128536ELNc.606C>T (p.Val202=)
c.540C>T (p.Val180=)
c.621C>T (p.Val207=)
c.297C>T (p.Val99=)
c.576C>T (p.Val192=)
c.591C>T (p.Val197=)
c.504C>T (p.Val168=)
c.360C>T (p.Val120=)
c.231C>T (p.Val77=)
c.492C>T (p.Val164=)
n.490C>T
n.72C>T
c.474C>T (p.Val158=)
c.570C>T (p.Val190=)
c.585C>T (p.Val195=)
c.555C>T (p.Val185=)
 dbSNP gnomAD v4
7g.74046732dupCA2695207873ELNc.608dup (p.Leu204ThrfsTer?)
c.542dup (p.Leu182ThrfsTer?)
c.623dup (p.Leu209ThrfsTer?)
c.299dup (p.Leu101ThrfsTer?)
c.578dup (p.Leu194ThrfsTer?)
c.593dup (p.Leu199ThrfsTer?)
c.506dup (p.Leu170ThrfsTer?)
c.362dup (p.Leu122ThrfsTer?)
c.233dup (p.Leu79ThrfsTer?)
c.494dup (p.Leu166ThrfsTer?)
n.492dup
n.74dup
c.476dup (p.Leu160ThrfsTer?)
c.572dup (p.Leu192ThrfsTer?)
c.587dup (p.Leu197ThrfsTer?)
c.557dup (p.Leu187ThrfsTer?)
7g.74046732delCA281486ELNc.608del (p.Pro203HisfsTer?)
c.542del (p.Pro181HisfsTer?)
c.623del (p.Pro208HisfsTer?)
c.299del (p.Pro100HisfsTer?)
c.578del (p.Pro193HisfsTer?)
c.593del (p.Pro198HisfsTer?)
c.506del (p.Pro169HisfsTer?)
c.362del (p.Pro121HisfsTer?)
c.233del (p.Pro78HisfsTer?)
c.494del (p.Pro165HisfsTer?)
n.492del
n.74del
c.476del (p.Pro159HisfsTer?)
c.572del (p.Pro191HisfsTer?)
c.587del (p.Pro196HisfsTer?)
c.557del (p.Pro186HisfsTer?)
 ClinVar dbSNP
7g.74046731C>ACA367870271ELNc.607C>A (p.Pro203Thr)
c.541C>A (p.Pro181Thr)
c.622C>A (p.Pro208Thr)
c.298C>A (p.Pro100Thr)
c.577C>A (p.Pro193Thr)
c.592C>A (p.Pro198Thr)
c.505C>A (p.Pro169Thr)
c.361C>A (p.Pro121Thr)
c.232C>A (p.Pro78Thr)
c.493C>A (p.Pro165Thr)
n.491C>A
n.73C>A
c.475C>A (p.Pro159Thr)
c.571C>A (p.Pro191Thr)
c.586C>A (p.Pro196Thr)
c.556C>A (p.Pro186Thr)
7g.74046731C>GCA367870273ELNc.607C>G (p.Pro203Ala)
c.541C>G (p.Pro181Ala)
c.622C>G (p.Pro208Ala)
c.298C>G (p.Pro100Ala)
c.577C>G (p.Pro193Ala)
c.592C>G (p.Pro198Ala)
c.505C>G (p.Pro169Ala)
c.361C>G (p.Pro121Ala)
c.232C>G (p.Pro78Ala)
c.493C>G (p.Pro165Ala)
n.491C>G
n.73C>G
c.475C>G (p.Pro159Ala)
c.571C>G (p.Pro191Ala)
c.586C>G (p.Pro196Ala)
c.556C>G (p.Pro186Ala)
7g.74046731C>TCA367870272ELNc.607C>T (p.Pro203Ser)
c.541C>T (p.Pro181Ser)
c.622C>T (p.Pro208Ser)
c.298C>T (p.Pro100Ser)
c.577C>T (p.Pro193Ser)
c.592C>T (p.Pro198Ser)
c.505C>T (p.Pro169Ser)
c.361C>T (p.Pro121Ser)
c.232C>T (p.Pro78Ser)
c.493C>T (p.Pro165Ser)
n.491C>T
n.73C>T
c.475C>T (p.Pro159Ser)
c.571C>T (p.Pro191Ser)
c.586C>T (p.Pro196Ser)
c.556C>T (p.Pro186Ser)
 gnomAD v4
7g.74046732C>ACA367870274ELNc.608C>A (p.Pro203Gln)
c.542C>A (p.Pro181Gln)
c.623C>A (p.Pro208Gln)
c.299C>A (p.Pro100Gln)
c.578C>A (p.Pro193Gln)
c.593C>A (p.Pro198Gln)
c.506C>A (p.Pro169Gln)
c.362C>A (p.Pro121Gln)
c.233C>A (p.Pro78Gln)
c.494C>A (p.Pro165Gln)
n.492C>A
n.74C>A
c.476C>A (p.Pro159Gln)
c.572C>A (p.Pro191Gln)
c.587C>A (p.Pro196Gln)
c.557C>A (p.Pro186Gln)
7g.74046732C=CA1717340895ELNc.608C= (p.Pro203=)
c.542C= (p.Pro181=)
c.623C= (p.Pro208=)
c.299C= (p.Pro100=)
c.578C= (p.Pro193=)
c.593C= (p.Pro198=)
c.506C= (p.Pro169=)
c.362C= (p.Pro121=)
c.233C= (p.Pro78=)
c.494C= (p.Pro165=)
n.492C=
n.74C=
c.476C= (p.Pro159=)
c.572C= (p.Pro191=)
c.587C= (p.Pro196=)
c.557C= (p.Pro186=)
7g.74046732C>GCA160128539ELNc.608C>G (p.Pro203Arg)
c.542C>G (p.Pro181Arg)
c.623C>G (p.Pro208Arg)
c.299C>G (p.Pro100Arg)
c.578C>G (p.Pro193Arg)
c.593C>G (p.Pro198Arg)
c.506C>G (p.Pro169Arg)
c.362C>G (p.Pro121Arg)
c.233C>G (p.Pro78Arg)
c.494C>G (p.Pro165Arg)
n.492C>G
n.74C>G
c.476C>G (p.Pro159Arg)
c.572C>G (p.Pro191Arg)
c.587C>G (p.Pro196Arg)
c.557C>G (p.Pro186Arg)
 dbSNP
7g.74046732C>TCA367870275ELNc.608C>T (p.Pro203Leu)
c.542C>T (p.Pro181Leu)
c.623C>T (p.Pro208Leu)
c.299C>T (p.Pro100Leu)
c.578C>T (p.Pro193Leu)
c.593C>T (p.Pro198Leu)
c.506C>T (p.Pro169Leu)
c.362C>T (p.Pro121Leu)
c.233C>T (p.Pro78Leu)
c.494C>T (p.Pro165Leu)
n.492C>T
n.74C>T
c.476C>T (p.Pro159Leu)
c.572C>T (p.Pro191Leu)
c.587C>T (p.Pro196Leu)
c.557C>T (p.Pro186Leu)
 gnomAD v4
7g.74046733delCA2580077342ELNc.609del (p.Leu204TrpfsTer?)
c.543del (p.Leu182TrpfsTer?)
c.624del (p.Leu209TrpfsTer?)
c.300del (p.Leu101TrpfsTer?)
c.579del (p.Leu194TrpfsTer?)
c.594del (p.Leu199TrpfsTer?)
c.507del (p.Leu170TrpfsTer?)
c.363del (p.Leu122TrpfsTer?)
c.234del (p.Leu79TrpfsTer?)
c.495del (p.Leu166TrpfsTer?)
n.493del
n.75del
c.477del (p.Leu160TrpfsTer?)
c.573del (p.Leu192TrpfsTer?)
c.588del (p.Leu197TrpfsTer?)
c.558del (p.Leu187TrpfsTer?)
 ClinVar
7g.74046733A=CA1717340896ELNc.609A= (p.Pro203=)
c.543A= (p.Pro181=)
c.624A= (p.Pro208=)
c.300A= (p.Pro100=)
c.579A= (p.Pro193=)
c.594A= (p.Pro198=)
c.507A= (p.Pro169=)
c.363A= (p.Pro121=)
c.234A= (p.Pro78=)
c.495A= (p.Pro165=)
n.493A=
n.75A=
c.477A= (p.Pro159=)
c.573A= (p.Pro191=)
c.588A= (p.Pro196=)
c.558A= (p.Pro186=)
7g.74046733A>CCA4292588ELNc.609A>C (p.Pro203=)
c.543A>C (p.Pro181=)
c.624A>C (p.Pro208=)
c.300A>C (p.Pro100=)
c.579A>C (p.Pro193=)
c.594A>C (p.Pro198=)
c.507A>C (p.Pro169=)
c.363A>C (p.Pro121=)
c.234A>C (p.Pro78=)
c.495A>C (p.Pro165=)
n.493A>C
n.75A>C
c.477A>C (p.Pro159=)
c.573A>C (p.Pro191=)
c.588A>C (p.Pro196=)
c.558A>C (p.Pro186=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.74046733A>GCA160128549ELNc.609A>G (p.Pro203=)
c.543A>G (p.Pro181=)
c.624A>G (p.Pro208=)
c.300A>G (p.Pro100=)
c.579A>G (p.Pro193=)
c.594A>G (p.Pro198=)
c.507A>G (p.Pro169=)
c.363A>G (p.Pro121=)
c.234A>G (p.Pro78=)
c.495A>G (p.Pro165=)
n.493A>G
n.75A>G
c.477A>G (p.Pro159=)
c.573A>G (p.Pro191=)
c.588A>G (p.Pro196=)
c.558A>G (p.Pro186=)
 dbSNP
7g.74046733A>TCA4292587ELNc.609A>T (p.Pro203=)
c.543A>T (p.Pro181=)
c.624A>T (p.Pro208=)
c.300A>T (p.Pro100=)
c.579A>T (p.Pro193=)
c.594A>T (p.Pro198=)
c.507A>T (p.Pro169=)
c.363A>T (p.Pro121=)
c.234A>T (p.Pro78=)
c.495A>T (p.Pro165=)
n.493A>T
n.75A>T
c.477A>T (p.Pro159=)
c.573A>T (p.Pro191=)
c.588A>T (p.Pro196=)
c.558A>T (p.Pro186=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.74046734C>ACA367870276ELNc.610C>A (p.Leu204Met)
c.544C>A (p.Leu182Met)
c.625C>A (p.Leu209Met)
c.301C>A (p.Leu101Met)
c.580C>A (p.Leu194Met)
c.595C>A (p.Leu199Met)
c.508C>A (p.Leu170Met)
c.364C>A (p.Leu122Met)
c.235C>A (p.Leu79Met)
c.496C>A (p.Leu166Met)
n.494C>A
n.76C>A
c.478C>A (p.Leu160Met)
c.574C>A (p.Leu192Met)
c.589C>A (p.Leu197Met)
c.559C>A (p.Leu187Met)
7g.74046734C>GCA367870277ELNc.610C>G (p.Leu204Val)
c.544C>G (p.Leu182Val)
c.625C>G (p.Leu209Val)
c.301C>G (p.Leu101Val)
c.580C>G (p.Leu194Val)
c.595C>G (p.Leu199Val)
c.508C>G (p.Leu170Val)
c.364C>G (p.Leu122Val)
c.235C>G (p.Leu79Val)
c.496C>G (p.Leu166Val)
n.494C>G
n.76C>G
c.478C>G (p.Leu160Val)
c.574C>G (p.Leu192Val)
c.589C>G (p.Leu197Val)
c.559C>G (p.Leu187Val)
7g.74046734C>TCA455883446ELNc.610C>T (p.Leu204=)
c.544C>T (p.Leu182=)
c.625C>T (p.Leu209=)
c.301C>T (p.Leu101=)
c.580C>T (p.Leu194=)
c.595C>T (p.Leu199=)
c.508C>T (p.Leu170=)
c.364C>T (p.Leu122=)
c.235C>T (p.Leu79=)
c.496C>T (p.Leu166=)
n.494C>T
n.76C>T
c.478C>T (p.Leu160=)
c.574C>T (p.Leu192=)
c.589C>T (p.Leu197=)
c.559C>T (p.Leu187=)
7g.74046735delCA2580077343ELNc.611del (p.Leu204ArgfsTer?)
c.545del (p.Leu182ArgfsTer?)
c.626del (p.Leu209ArgfsTer?)
c.302del (p.Leu101ArgfsTer?)
c.581del (p.Leu194ArgfsTer?)
c.596del (p.Leu199ArgfsTer?)
c.509del (p.Leu170ArgfsTer?)
c.365del (p.Leu122ArgfsTer?)
c.236del (p.Leu79ArgfsTer?)
c.497del (p.Leu166ArgfsTer?)
n.495del
n.77del
c.479del (p.Leu160ArgfsTer?)
c.575del (p.Leu192ArgfsTer?)
c.590del (p.Leu197ArgfsTer?)
c.560del (p.Leu187ArgfsTer?)
 ClinVar
7g.74046735T>ACA367870278ELNc.611T>A (p.Leu204Gln)
c.545T>A (p.Leu182Gln)
c.626T>A (p.Leu209Gln)
c.302T>A (p.Leu101Gln)
c.581T>A (p.Leu194Gln)
c.596T>A (p.Leu199Gln)
c.509T>A (p.Leu170Gln)
c.365T>A (p.Leu122Gln)
c.236T>A (p.Leu79Gln)
c.497T>A (p.Leu166Gln)
n.495T>A
n.77T>A
c.479T>A (p.Leu160Gln)
c.575T>A (p.Leu192Gln)
c.590T>A (p.Leu197Gln)
c.560T>A (p.Leu187Gln)
7g.74046735T>CCA367870279ELNc.611T>C (p.Leu204Pro)
c.545T>C (p.Leu182Pro)
c.626T>C (p.Leu209Pro)
c.302T>C (p.Leu101Pro)
c.581T>C (p.Leu194Pro)
c.596T>C (p.Leu199Pro)
c.509T>C (p.Leu170Pro)
c.365T>C (p.Leu122Pro)
c.236T>C (p.Leu79Pro)
c.497T>C (p.Leu166Pro)
n.495T>C
n.77T>C
c.479T>C (p.Leu160Pro)
c.575T>C (p.Leu192Pro)
c.590T>C (p.Leu197Pro)
c.560T>C (p.Leu187Pro)
7g.74046735T>GCA367870280ELNc.611T>G (p.Leu204Arg)
c.545T>G (p.Leu182Arg)
c.626T>G (p.Leu209Arg)
c.302T>G (p.Leu101Arg)
c.581T>G (p.Leu194Arg)
c.596T>G (p.Leu199Arg)
c.509T>G (p.Leu170Arg)
c.365T>G (p.Leu122Arg)
c.236T>G (p.Leu79Arg)
c.497T>G (p.Leu166Arg)
n.495T>G
n.77T>G
c.479T>G (p.Leu160Arg)
c.575T>G (p.Leu192Arg)
c.590T>G (p.Leu197Arg)
c.560T>G (p.Leu187Arg)
 gnomAD v4
7g.74046736G>ACA455883454ELNc.612G>A (p.Leu204=)
c.546G>A (p.Leu182=)
c.627G>A (p.Leu209=)
c.303G>A (p.Leu101=)
c.582G>A (p.Leu194=)
c.597G>A (p.Leu199=)
c.510G>A (p.Leu170=)
c.366G>A (p.Leu122=)
c.237G>A (p.Leu79=)
c.498G>A (p.Leu166=)
n.496G>A
n.78G>A
c.480G>A (p.Leu160=)
c.576G>A (p.Leu192=)
c.591G>A (p.Leu197=)
c.561G>A (p.Leu187=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.74046736G>CCA455883452ELNc.612G>C (p.Leu204=)
c.546G>C (p.Leu182=)
c.627G>C (p.Leu209=)
c.303G>C (p.Leu101=)
c.582G>C (p.Leu194=)
c.597G>C (p.Leu199=)
c.510G>C (p.Leu170=)
c.366G>C (p.Leu122=)
c.237G>C (p.Leu79=)
c.498G>C (p.Leu166=)
n.496G>C
n.78G>C
c.480G>C (p.Leu160=)
c.576G>C (p.Leu192=)
c.591G>C (p.Leu197=)
c.561G>C (p.Leu187=)
7g.74046736G=CA1717340897ELNc.612G= (p.Leu204=)
c.546G= (p.Leu182=)
c.627G= (p.Leu209=)
c.303G= (p.Leu101=)
c.582G= (p.Leu194=)
c.597G= (p.Leu199=)
c.510G= (p.Leu170=)
c.366G= (p.Leu122=)
c.237G= (p.Leu79=)
c.498G= (p.Leu166=)
n.496G=
n.78G=
c.480G= (p.Leu160=)
c.576G= (p.Leu192=)
c.591G= (p.Leu197=)
c.561G= (p.Leu187=)
7g.74046736G>TCA4292589ELNc.612G>T (p.Leu204=)
c.546G>T (p.Leu182=)
c.627G>T (p.Leu209=)
c.303G>T (p.Leu101=)
c.582G>T (p.Leu194=)
c.597G>T (p.Leu199=)
c.510G>T (p.Leu170=)
c.366G>T (p.Leu122=)
c.237G>T (p.Leu79=)
c.498G>T (p.Leu166=)
n.496G>T
n.78G>T
c.480G>T (p.Leu160=)
c.576G>T (p.Leu192=)
c.591G>T (p.Leu197=)
c.561G>T (p.Leu187=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046737G>ACA367870281ELNc.613G>A (p.Gly205Arg)
c.547G>A (p.Gly183Arg)
c.628G>A (p.Gly210Arg)
c.304G>A (p.Gly102Arg)
c.583G>A (p.Gly195Arg)
c.598G>A (p.Gly200Arg)
c.511G>A (p.Gly171Arg)
c.367G>A (p.Gly123Arg)
c.238G>A (p.Gly80Arg)
c.499G>A (p.Gly167Arg)
n.497G>A
n.79G>A
c.481G>A (p.Gly161Arg)
c.577G>A (p.Gly193Arg)
c.592G>A (p.Gly198Arg)
c.562G>A (p.Gly188Arg)
7g.74046737G>CCA367870282ELNc.613G>C (p.Gly205Arg)
c.547G>C (p.Gly183Arg)
c.628G>C (p.Gly210Arg)
c.304G>C (p.Gly102Arg)
c.583G>C (p.Gly195Arg)
c.598G>C (p.Gly200Arg)
c.511G>C (p.Gly171Arg)
c.367G>C (p.Gly123Arg)
c.238G>C (p.Gly80Arg)
c.499G>C (p.Gly167Arg)
n.497G>C
n.79G>C
c.481G>C (p.Gly161Arg)
c.577G>C (p.Gly193Arg)
c.592G>C (p.Gly198Arg)
c.562G>C (p.Gly188Arg)
7g.74046737G>TCA367870283ELNc.613G>T (p.Gly205Trp)
c.547G>T (p.Gly183Trp)
c.628G>T (p.Gly210Trp)
c.304G>T (p.Gly102Trp)
c.583G>T (p.Gly195Trp)
c.598G>T (p.Gly200Trp)
c.511G>T (p.Gly171Trp)
c.367G>T (p.Gly123Trp)
c.238G>T (p.Gly80Trp)
c.499G>T (p.Gly167Trp)
n.497G>T
n.79G>T
c.481G>T (p.Gly161Trp)
c.577G>T (p.Gly193Trp)
c.592G>T (p.Gly198Trp)
c.562G>T (p.Gly188Trp)
7g.74046738G>ACA367870284ELNc.614G>A (p.Gly205Glu)
c.548G>A (p.Gly183Glu)
c.629G>A (p.Gly210Glu)
c.305G>A (p.Gly102Glu)
c.584G>A (p.Gly195Glu)
c.599G>A (p.Gly200Glu)
c.512G>A (p.Gly171Glu)
c.368G>A (p.Gly123Glu)
c.239G>A (p.Gly80Glu)
c.500G>A (p.Gly167Glu)
n.498G>A
n.80G>A
c.482G>A (p.Gly161Glu)
c.578G>A (p.Gly193Glu)
c.593G>A (p.Gly198Glu)
c.563G>A (p.Gly188Glu)
7g.74046738G>CCA367870285ELNc.614G>C (p.Gly205Ala)
c.548G>C (p.Gly183Ala)
c.629G>C (p.Gly210Ala)
c.305G>C (p.Gly102Ala)
c.584G>C (p.Gly195Ala)
c.599G>C (p.Gly200Ala)
c.512G>C (p.Gly171Ala)
c.368G>C (p.Gly123Ala)
c.239G>C (p.Gly80Ala)
c.500G>C (p.Gly167Ala)
n.498G>C
n.80G>C
c.482G>C (p.Gly161Ala)
c.578G>C (p.Gly193Ala)
c.593G>C (p.Gly198Ala)
c.563G>C (p.Gly188Ala)
7g.74046738G>TCA367870286ELNc.614G>T (p.Gly205Val)
c.548G>T (p.Gly183Val)
c.629G>T (p.Gly210Val)
c.305G>T (p.Gly102Val)
c.584G>T (p.Gly195Val)
c.599G>T (p.Gly200Val)
c.512G>T (p.Gly171Val)
c.368G>T (p.Gly123Val)
c.239G>T (p.Gly80Val)
c.500G>T (p.Gly167Val)
n.498G>T
n.80G>T
c.482G>T (p.Gly161Val)
c.578G>T (p.Gly193Val)
c.593G>T (p.Gly198Val)
c.563G>T (p.Gly188Val)
7g.74046739G>ACA455883466ELNc.615G>A (p.Gly205=)
c.549G>A (p.Gly183=)
c.630G>A (p.Gly210=)
c.306G>A (p.Gly102=)
c.585G>A (p.Gly195=)
c.600G>A (p.Gly200=)
c.513G>A (p.Gly171=)
c.369G>A (p.Gly123=)
c.240G>A (p.Gly80=)
c.501G>A (p.Gly167=)
n.499G>A
n.81G>A
c.483G>A (p.Gly161=)
c.579G>A (p.Gly193=)
c.594G>A (p.Gly198=)
c.564G>A (p.Gly188=)
 gnomAD v4
7g.74046739G>CCA455883468ELNc.615G>C (p.Gly205=)
c.549G>C (p.Gly183=)
c.630G>C (p.Gly210=)
c.306G>C (p.Gly102=)
c.585G>C (p.Gly195=)
c.600G>C (p.Gly200=)
c.513G>C (p.Gly171=)
c.369G>C (p.Gly123=)
c.240G>C (p.Gly80=)
c.501G>C (p.Gly167=)
n.499G>C
n.81G>C
c.483G>C (p.Gly161=)
c.579G>C (p.Gly193=)
c.594G>C (p.Gly198=)
c.564G>C (p.Gly188=)
7g.74046739G>TCA455883464ELNc.615G>T (p.Gly205=)
c.549G>T (p.Gly183=)
c.630G>T (p.Gly210=)
c.306G>T (p.Gly102=)
c.585G>T (p.Gly195=)
c.600G>T (p.Gly200=)
c.513G>T (p.Gly171=)
c.369G>T (p.Gly123=)
c.240G>T (p.Gly80=)
c.501G>T (p.Gly167=)
n.499G>T
n.81G>T
c.483G>T (p.Gly161=)
c.579G>T (p.Gly193=)
c.594G>T (p.Gly198=)
c.564G>T (p.Gly188=)
 gnomAD v4
7g.74046740T>ACA367870287ELNc.616T>A (p.Tyr206Asn)
c.550T>A (p.Tyr184Asn)
c.631T>A (p.Tyr211Asn)
c.307T>A (p.Tyr103Asn)
c.586T>A (p.Tyr196Asn)
c.601T>A (p.Tyr201Asn)
c.514T>A (p.Tyr172Asn)
c.370T>A (p.Tyr124Asn)
c.241T>A (p.Tyr81Asn)
c.502T>A (p.Tyr168Asn)
n.500T>A
n.82T>A
c.484T>A (p.Tyr162Asn)
c.580T>A (p.Tyr194Asn)
c.595T>A (p.Tyr199Asn)
c.565T>A (p.Tyr189Asn)
7g.74046740T>CCA367870288ELNc.616T>C (p.Tyr206His)
c.550T>C (p.Tyr184His)
c.631T>C (p.Tyr211His)
c.307T>C (p.Tyr103His)
c.586T>C (p.Tyr196His)
c.601T>C (p.Tyr201His)
c.514T>C (p.Tyr172His)
c.370T>C (p.Tyr124His)
c.241T>C (p.Tyr81His)
c.502T>C (p.Tyr168His)
n.500T>C
n.82T>C
c.484T>C (p.Tyr162His)
c.580T>C (p.Tyr194His)
c.595T>C (p.Tyr199His)
c.565T>C (p.Tyr189His)
7g.74046740T>GCA367870289ELNc.616T>G (p.Tyr206Asp)
c.550T>G (p.Tyr184Asp)
c.631T>G (p.Tyr211Asp)
c.307T>G (p.Tyr103Asp)
c.586T>G (p.Tyr196Asp)
c.601T>G (p.Tyr201Asp)
c.514T>G (p.Tyr172Asp)
c.370T>G (p.Tyr124Asp)
c.241T>G (p.Tyr81Asp)
c.502T>G (p.Tyr168Asp)
n.500T>G
n.82T>G
c.484T>G (p.Tyr162Asp)
c.580T>G (p.Tyr194Asp)
c.595T>G (p.Tyr199Asp)
c.565T>G (p.Tyr189Asp)
7g.74046741A>CCA367870290ELNc.617A>C (p.Tyr206Ser)
c.551A>C (p.Tyr184Ser)
c.632A>C (p.Tyr211Ser)
c.308A>C (p.Tyr103Ser)
c.587A>C (p.Tyr196Ser)
c.602A>C (p.Tyr201Ser)
c.515A>C (p.Tyr172Ser)
c.371A>C (p.Tyr124Ser)
c.242A>C (p.Tyr81Ser)
c.503A>C (p.Tyr168Ser)
n.501A>C
n.83A>C
c.485A>C (p.Tyr162Ser)
c.581A>C (p.Tyr194Ser)
c.596A>C (p.Tyr199Ser)
c.566A>C (p.Tyr189Ser)
7g.74046741A>GCA367870291ELNc.617A>G (p.Tyr206Cys)
c.551A>G (p.Tyr184Cys)
c.632A>G (p.Tyr211Cys)
c.308A>G (p.Tyr103Cys)
c.587A>G (p.Tyr196Cys)
c.602A>G (p.Tyr201Cys)
c.515A>G (p.Tyr172Cys)
c.371A>G (p.Tyr124Cys)
c.242A>G (p.Tyr81Cys)
c.503A>G (p.Tyr168Cys)
n.501A>G
n.83A>G
c.485A>G (p.Tyr162Cys)
c.581A>G (p.Tyr194Cys)
c.596A>G (p.Tyr199Cys)
c.566A>G (p.Tyr189Cys)
7g.74046741A>TCA367870292ELNc.617A>T (p.Tyr206Phe)
c.551A>T (p.Tyr184Phe)
c.632A>T (p.Tyr211Phe)
c.308A>T (p.Tyr103Phe)
c.587A>T (p.Tyr196Phe)
c.602A>T (p.Tyr201Phe)
c.515A>T (p.Tyr172Phe)
c.371A>T (p.Tyr124Phe)
c.242A>T (p.Tyr81Phe)
c.503A>T (p.Tyr168Phe)
n.501A>T
n.83A>T
c.485A>T (p.Tyr162Phe)
c.581A>T (p.Tyr194Phe)
c.596A>T (p.Tyr199Phe)
c.566A>T (p.Tyr189Phe)
7g.74046742T>ACA320936ELNc.618T>A (p.Tyr206Ter)
c.552T>A (p.Tyr184Ter)
c.633T>A (p.Tyr211Ter)
c.309T>A (p.Tyr103Ter)
c.588T>A (p.Tyr196Ter)
c.603T>A (p.Tyr201Ter)
c.516T>A (p.Tyr172Ter)
c.372T>A (p.Tyr124Ter)
c.243T>A (p.Tyr81Ter)
c.504T>A (p.Tyr168Ter)
n.502T>A
n.84T>A
c.486T>A (p.Tyr162Ter)
c.582T>A (p.Tyr194Ter)
c.597T>A (p.Tyr199Ter)
c.567T>A (p.Tyr189Ter)
 ClinVar dbSNP
7g.74046742T>CCA455883479ELNc.618T>C (p.Tyr206=)
c.552T>C (p.Tyr184=)
c.633T>C (p.Tyr211=)
c.309T>C (p.Tyr103=)
c.588T>C (p.Tyr196=)
c.603T>C (p.Tyr201=)
c.516T>C (p.Tyr172=)
c.372T>C (p.Tyr124=)
c.243T>C (p.Tyr81=)
c.504T>C (p.Tyr168=)
n.502T>C
n.84T>C
c.486T>C (p.Tyr162=)
c.582T>C (p.Tyr194=)
c.597T>C (p.Tyr199=)
c.567T>C (p.Tyr189=)
7g.74046742T>GCA367870293ELNc.618T>G (p.Tyr206Ter)
c.552T>G (p.Tyr184Ter)
c.633T>G (p.Tyr211Ter)
c.309T>G (p.Tyr103Ter)
c.588T>G (p.Tyr196Ter)
c.603T>G (p.Tyr201Ter)
c.516T>G (p.Tyr172Ter)
c.372T>G (p.Tyr124Ter)
c.243T>G (p.Tyr81Ter)
c.504T>G (p.Tyr168Ter)
n.502T>G
n.84T>G
c.486T>G (p.Tyr162Ter)
c.582T>G (p.Tyr194Ter)
c.597T>G (p.Tyr199Ter)
c.567T>G (p.Tyr189Ter)
7g.74046742T=CA1717340898ELNc.618T= (p.Tyr206=)
c.552T= (p.Tyr184=)
c.633T= (p.Tyr211=)
c.309T= (p.Tyr103=)
c.588T= (p.Tyr196=)
c.603T= (p.Tyr201=)
c.516T= (p.Tyr172=)
c.372T= (p.Tyr124=)
c.243T= (p.Tyr81=)
c.504T= (p.Tyr168=)
n.502T=
n.84T=
c.486T= (p.Tyr162=)
c.582T= (p.Tyr194=)
c.597T= (p.Tyr199=)
c.567T= (p.Tyr189=)
7g.74046743C>ACA367870296ELNc.619C>A (p.Pro207Thr)
c.553C>A (p.Pro185Thr)
c.634C>A (p.Pro212Thr)
c.310C>A (p.Pro104Thr)
c.589C>A (p.Pro197Thr)
c.604C>A (p.Pro202Thr)
c.517C>A (p.Pro173Thr)
c.373C>A (p.Pro125Thr)
c.244C>A (p.Pro82Thr)
c.505C>A (p.Pro169Thr)
n.503C>A
n.85C>A
c.487C>A (p.Pro163Thr)
c.583C>A (p.Pro195Thr)
c.598C>A (p.Pro200Thr)
c.568C>A (p.Pro190Thr)
 dbSNP
7g.74046743C=CA1717340899ELNc.619C= (p.Pro207=)
c.553C= (p.Pro185=)
c.634C= (p.Pro212=)
c.310C= (p.Pro104=)
c.589C= (p.Pro197=)
c.604C= (p.Pro202=)
c.517C= (p.Pro173=)
c.373C= (p.Pro125=)
c.244C= (p.Pro82=)
c.505C= (p.Pro169=)
n.503C=
n.85C=
c.487C= (p.Pro163=)
c.583C= (p.Pro195=)
c.598C= (p.Pro200=)
c.568C= (p.Pro190=)
7g.74046743C>GCA367870294ELNc.619C>G (p.Pro207Ala)
c.553C>G (p.Pro185Ala)
c.634C>G (p.Pro212Ala)
c.310C>G (p.Pro104Ala)
c.589C>G (p.Pro197Ala)
c.604C>G (p.Pro202Ala)
c.517C>G (p.Pro173Ala)
c.373C>G (p.Pro125Ala)
c.244C>G (p.Pro82Ala)
c.505C>G (p.Pro169Ala)
n.503C>G
n.85C>G
c.487C>G (p.Pro163Ala)
c.583C>G (p.Pro195Ala)
c.598C>G (p.Pro200Ala)
c.568C>G (p.Pro190Ala)
 gnomAD v4
7g.74046743C>TCA367870295ELNc.619C>T (p.Pro207Ser)
c.553C>T (p.Pro185Ser)
c.634C>T (p.Pro212Ser)
c.310C>T (p.Pro104Ser)
c.589C>T (p.Pro197Ser)
c.604C>T (p.Pro202Ser)
c.517C>T (p.Pro173Ser)
c.373C>T (p.Pro125Ser)
c.244C>T (p.Pro82Ser)
c.505C>T (p.Pro169Ser)
n.503C>T
n.85C>T
c.487C>T (p.Pro163Ser)
c.583C>T (p.Pro195Ser)
c.598C>T (p.Pro200Ser)
c.568C>T (p.Pro190Ser)
7g.74046744C>ACA367870297ELNc.620C>A (p.Pro207His)
c.554C>A (p.Pro185His)
c.635C>A (p.Pro212His)
c.311C>A (p.Pro104His)
c.590C>A (p.Pro197His)
c.605C>A (p.Pro202His)
c.518C>A (p.Pro173His)
c.374C>A (p.Pro125His)
c.245C>A (p.Pro82His)
c.506C>A (p.Pro169His)
n.504C>A
n.86C>A
c.488C>A (p.Pro163His)
c.584C>A (p.Pro195His)
c.599C>A (p.Pro200His)
c.569C>A (p.Pro190His)
 dbSNP gnomAD v4
7g.74046744C=CA1717340900ELNc.620C= (p.Pro207=)
c.554C= (p.Pro185=)
c.635C= (p.Pro212=)
c.311C= (p.Pro104=)
c.590C= (p.Pro197=)
c.605C= (p.Pro202=)
c.518C= (p.Pro173=)
c.374C= (p.Pro125=)
c.245C= (p.Pro82=)
c.506C= (p.Pro169=)
n.504C=
n.86C=
c.488C= (p.Pro163=)
c.584C= (p.Pro195=)
c.599C= (p.Pro200=)
c.569C= (p.Pro190=)
7g.74046744C>GCA367870298ELNc.620C>G (p.Pro207Arg)
c.554C>G (p.Pro185Arg)
c.635C>G (p.Pro212Arg)
c.311C>G (p.Pro104Arg)
c.590C>G (p.Pro197Arg)
c.605C>G (p.Pro202Arg)
c.518C>G (p.Pro173Arg)
c.374C>G (p.Pro125Arg)
c.245C>G (p.Pro82Arg)
c.506C>G (p.Pro169Arg)
n.504C>G
n.86C>G
c.488C>G (p.Pro163Arg)
c.584C>G (p.Pro195Arg)
c.599C>G (p.Pro200Arg)
c.569C>G (p.Pro190Arg)
7g.74046744C>TCA367870299ELNc.620C>T (p.Pro207Leu)
c.554C>T (p.Pro185Leu)
c.635C>T (p.Pro212Leu)
c.311C>T (p.Pro104Leu)
c.590C>T (p.Pro197Leu)
c.605C>T (p.Pro202Leu)
c.518C>T (p.Pro173Leu)
c.374C>T (p.Pro125Leu)
c.245C>T (p.Pro82Leu)
c.506C>T (p.Pro169Leu)
n.504C>T
n.86C>T
c.488C>T (p.Pro163Leu)
c.584C>T (p.Pro195Leu)
c.599C>T (p.Pro200Leu)
c.569C>T (p.Pro190Leu)
 dbSNP
7g.74046745C>ACA455883489ELNc.621C>A (p.Pro207=)
c.555C>A (p.Pro185=)
c.636C>A (p.Pro212=)
c.312C>A (p.Pro104=)
c.591C>A (p.Pro197=)
c.606C>A (p.Pro202=)
c.519C>A (p.Pro173=)
c.375C>A (p.Pro125=)
c.246C>A (p.Pro82=)
c.507C>A (p.Pro169=)
n.505C>A
n.87C>A
c.489C>A (p.Pro163=)
c.585C>A (p.Pro195=)
c.600C>A (p.Pro200=)
c.570C>A (p.Pro190=)
7g.74046745C>GCA455883490ELNc.621C>G (p.Pro207=)
c.555C>G (p.Pro185=)
c.636C>G (p.Pro212=)
c.312C>G (p.Pro104=)
c.591C>G (p.Pro197=)
c.606C>G (p.Pro202=)
c.519C>G (p.Pro173=)
c.375C>G (p.Pro125=)
c.246C>G (p.Pro82=)
c.507C>G (p.Pro169=)
n.505C>G
n.87C>G
c.489C>G (p.Pro163=)
c.585C>G (p.Pro195=)
c.600C>G (p.Pro200=)
c.570C>G (p.Pro190=)
7g.74046745C>TCA455883491ELNc.621C>T (p.Pro207=)
c.555C>T (p.Pro185=)
c.636C>T (p.Pro212=)
c.312C>T (p.Pro104=)
c.591C>T (p.Pro197=)
c.606C>T (p.Pro202=)
c.519C>T (p.Pro173=)
c.375C>T (p.Pro125=)
c.246C>T (p.Pro82=)
c.507C>T (p.Pro169=)
n.505C>T
n.87C>T
c.489C>T (p.Pro163=)
c.585C>T (p.Pro195=)
c.600C>T (p.Pro200=)
c.570C>T (p.Pro190=)
 dbSNP
7g.74046746A=CA1717340901ELNc.622A= (p.Ile208=)
c.556A= (p.Ile186=)
c.637A= (p.Ile213=)
c.313A= (p.Ile105=)
c.592A= (p.Ile198=)
c.607A= (p.Ile203=)
c.520A= (p.Ile174=)
c.376A= (p.Ile126=)
c.247A= (p.Ile83=)
c.508A= (p.Ile170=)
n.506A=
n.88A=
c.490A= (p.Ile164=)
c.586A= (p.Ile196=)
c.601A= (p.Ile201=)
c.571A= (p.Ile191=)
7g.74046746A>CCA367870300ELNc.622A>C (p.Ile208Leu)
c.556A>C (p.Ile186Leu)
c.637A>C (p.Ile213Leu)
c.313A>C (p.Ile105Leu)
c.592A>C (p.Ile198Leu)
c.607A>C (p.Ile203Leu)
c.520A>C (p.Ile174Leu)
c.376A>C (p.Ile126Leu)
c.247A>C (p.Ile83Leu)
c.508A>C (p.Ile170Leu)
n.506A>C
n.88A>C
c.490A>C (p.Ile164Leu)
c.586A>C (p.Ile196Leu)
c.601A>C (p.Ile201Leu)
c.571A>C (p.Ile191Leu)
7g.74046746A>GCA367870301ELNc.622A>G (p.Ile208Val)
c.556A>G (p.Ile186Val)
c.637A>G (p.Ile213Val)
c.313A>G (p.Ile105Val)
c.592A>G (p.Ile198Val)
c.607A>G (p.Ile203Val)
c.520A>G (p.Ile174Val)
c.376A>G (p.Ile126Val)
c.247A>G (p.Ile83Val)
c.508A>G (p.Ile170Val)
n.506A>G
n.88A>G
c.490A>G (p.Ile164Val)
c.586A>G (p.Ile196Val)
c.601A>G (p.Ile201Val)
c.571A>G (p.Ile191Val)
 dbSNP gnomAD v3 gnomAD v4
7g.74046746A>TCA367870302ELNc.622A>T (p.Ile208Phe)
c.556A>T (p.Ile186Phe)
c.637A>T (p.Ile213Phe)
c.313A>T (p.Ile105Phe)
c.592A>T (p.Ile198Phe)
c.607A>T (p.Ile203Phe)
c.520A>T (p.Ile174Phe)
c.376A>T (p.Ile126Phe)
c.247A>T (p.Ile83Phe)
c.508A>T (p.Ile170Phe)
n.506A>T
n.88A>T
c.490A>T (p.Ile164Phe)
c.586A>T (p.Ile196Phe)
c.601A>T (p.Ile201Phe)
c.571A>T (p.Ile191Phe)
7g.74046747T>ACA367870303ELNc.623T>A (p.Ile208Asn)
c.557T>A (p.Ile186Asn)
c.638T>A (p.Ile213Asn)
c.314T>A (p.Ile105Asn)
c.593T>A (p.Ile198Asn)
c.608T>A (p.Ile203Asn)
c.521T>A (p.Ile174Asn)
c.377T>A (p.Ile126Asn)
c.248T>A (p.Ile83Asn)
c.509T>A (p.Ile170Asn)
n.507T>A
n.89T>A
c.491T>A (p.Ile164Asn)
c.587T>A (p.Ile196Asn)
c.602T>A (p.Ile201Asn)
c.572T>A (p.Ile191Asn)
7g.74046747T>CCA367870304ELNc.623T>C (p.Ile208Thr)
c.557T>C (p.Ile186Thr)
c.638T>C (p.Ile213Thr)
c.314T>C (p.Ile105Thr)
c.593T>C (p.Ile198Thr)
c.608T>C (p.Ile203Thr)
c.521T>C (p.Ile174Thr)
c.377T>C (p.Ile126Thr)
c.248T>C (p.Ile83Thr)
c.509T>C (p.Ile170Thr)
n.507T>C
n.89T>C
c.491T>C (p.Ile164Thr)
c.587T>C (p.Ile196Thr)
c.602T>C (p.Ile201Thr)
c.572T>C (p.Ile191Thr)
7g.74046747T>GCA367870305ELNc.623T>G (p.Ile208Ser)
c.557T>G (p.Ile186Ser)
c.638T>G (p.Ile213Ser)
c.314T>G (p.Ile105Ser)
c.593T>G (p.Ile198Ser)
c.608T>G (p.Ile203Ser)
c.521T>G (p.Ile174Ser)
c.377T>G (p.Ile126Ser)
c.248T>G (p.Ile83Ser)
c.509T>G (p.Ile170Ser)
n.507T>G
n.89T>G
c.491T>G (p.Ile164Ser)
c.587T>G (p.Ile196Ser)
c.602T>G (p.Ile201Ser)
c.572T>G (p.Ile191Ser)
7g.74046748C>ACA455883502ELNc.624C>A (p.Ile208=)
c.558C>A (p.Ile186=)
c.639C>A (p.Ile213=)
c.315C>A (p.Ile105=)
c.594C>A (p.Ile198=)
c.609C>A (p.Ile203=)
c.522C>A (p.Ile174=)
c.378C>A (p.Ile126=)
c.249C>A (p.Ile83=)
c.510C>A (p.Ile170=)
n.508C>A
n.90C>A
c.492C>A (p.Ile164=)
c.588C>A (p.Ile196=)
c.603C>A (p.Ile201=)
c.573C>A (p.Ile191=)
 COSMIC
7g.74046748C>GCA367870306ELNc.624C>G (p.Ile208Met)
c.558C>G (p.Ile186Met)
c.639C>G (p.Ile213Met)
c.315C>G (p.Ile105Met)
c.594C>G (p.Ile198Met)
c.609C>G (p.Ile203Met)
c.522C>G (p.Ile174Met)
c.378C>G (p.Ile126Met)
c.249C>G (p.Ile83Met)
c.510C>G (p.Ile170Met)
n.508C>G
n.90C>G
c.492C>G (p.Ile164Met)
c.588C>G (p.Ile196Met)
c.603C>G (p.Ile201Met)
c.573C>G (p.Ile191Met)
7g.74046748C>TCA455883499ELNc.624C>T (p.Ile208=)
c.558C>T (p.Ile186=)
c.639C>T (p.Ile213=)
c.315C>T (p.Ile105=)
c.594C>T (p.Ile198=)
c.609C>T (p.Ile203=)
c.522C>T (p.Ile174=)
c.378C>T (p.Ile126=)
c.249C>T (p.Ile83=)
c.510C>T (p.Ile170=)
n.508C>T
n.90C>T
c.492C>T (p.Ile164=)
c.588C>T (p.Ile196=)
c.603C>T (p.Ile201=)
c.573C>T (p.Ile191=)
7g.74046749A=CA1717340902ELNc.625A= (p.Lys209=)
c.559A= (p.Lys187=)
c.640A= (p.Lys214=)
c.316A= (p.Lys106=)
c.595A= (p.Lys199=)
c.610A= (p.Lys204=)
c.523A= (p.Lys175=)
c.379A= (p.Lys127=)
c.250A= (p.Lys84=)
c.511A= (p.Lys171=)
n.509A=
n.91A=
c.493A= (p.Lys165=)
c.589A= (p.Lys197=)
c.604A= (p.Lys202=)
c.574A= (p.Lys192=)
7g.74046749A>CCA367870307ELNc.625A>C (p.Lys209Gln)
c.559A>C (p.Lys187Gln)
c.640A>C (p.Lys214Gln)
c.316A>C (p.Lys106Gln)
c.595A>C (p.Lys199Gln)
c.610A>C (p.Lys204Gln)
c.523A>C (p.Lys175Gln)
c.379A>C (p.Lys127Gln)
c.250A>C (p.Lys84Gln)
c.511A>C (p.Lys171Gln)
n.509A>C
n.91A>C
c.493A>C (p.Lys165Gln)
c.589A>C (p.Lys197Gln)
c.604A>C (p.Lys202Gln)
c.574A>C (p.Lys192Gln)
7g.74046749A>GCA4292590ELNc.625A>G (p.Lys209Glu)
c.559A>G (p.Lys187Glu)
c.640A>G (p.Lys214Glu)
c.316A>G (p.Lys106Glu)
c.595A>G (p.Lys199Glu)
c.610A>G (p.Lys204Glu)
c.523A>G (p.Lys175Glu)
c.379A>G (p.Lys127Glu)
c.250A>G (p.Lys84Glu)
c.511A>G (p.Lys171Glu)
n.509A>G
n.91A>G
c.493A>G (p.Lys165Glu)
c.589A>G (p.Lys197Glu)
c.604A>G (p.Lys202Glu)
c.574A>G (p.Lys192Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74046749A>TCA367870308ELNc.625A>T (p.Lys209Ter)
c.559A>T (p.Lys187Ter)
c.640A>T (p.Lys214Ter)
c.316A>T (p.Lys106Ter)
c.595A>T (p.Lys199Ter)
c.610A>T (p.Lys204Ter)
c.523A>T (p.Lys175Ter)
c.379A>T (p.Lys127Ter)
c.250A>T (p.Lys84Ter)
c.511A>T (p.Lys171Ter)
n.509A>T
n.91A>T
c.493A>T (p.Lys165Ter)
c.589A>T (p.Lys197Ter)
c.604A>T (p.Lys202Ter)
c.574A>T (p.Lys192Ter)
7g.74046750delCA645564215ELNc.626del (p.Lys209ArgfsTer?)
c.560del (p.Lys187ArgfsTer?)
c.641del (p.Lys214ArgfsTer?)
c.317del (p.Lys106ArgfsTer?)
c.596del (p.Lys199ArgfsTer?)
c.611del (p.Lys204ArgfsTer?)
c.524del (p.Lys175ArgfsTer?)
c.380del (p.Lys127ArgfsTer?)
c.251del (p.Lys84ArgfsTer?)
c.512del (p.Lys171ArgfsTer?)
n.510del
n.92del
c.494del (p.Lys165ArgfsTer?)
c.590del (p.Lys197ArgfsTer?)
c.605del (p.Lys202ArgfsTer?)
c.575del (p.Lys192ArgfsTer?)
 COSMIC COSMIC
7g.74046750A=CA1717340903ELNc.626A= (p.Lys209=)
c.560A= (p.Lys187=)
c.641A= (p.Lys214=)
c.317A= (p.Lys106=)
c.596A= (p.Lys199=)
c.611A= (p.Lys204=)
c.524A= (p.Lys175=)
c.380A= (p.Lys127=)
c.251A= (p.Lys84=)
c.512A= (p.Lys171=)
n.510A=
n.92A=
c.494A= (p.Lys165=)
c.590A= (p.Lys197=)
c.605A= (p.Lys202=)
c.575A= (p.Lys192=)
7g.74046750A>CCA367870311ELNc.626A>C (p.Lys209Thr)
c.560A>C (p.Lys187Thr)
c.641A>C (p.Lys214Thr)
c.317A>C (p.Lys106Thr)
c.596A>C (p.Lys199Thr)
c.611A>C (p.Lys204Thr)
c.524A>C (p.Lys175Thr)
c.380A>C (p.Lys127Thr)
c.251A>C (p.Lys84Thr)
c.512A>C (p.Lys171Thr)
n.510A>C
n.92A>C
c.494A>C (p.Lys165Thr)
c.590A>C (p.Lys197Thr)
c.605A>C (p.Lys202Thr)
c.575A>C (p.Lys192Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.74046750A>GCA367870309ELNc.626A>G (p.Lys209Arg)
c.560A>G (p.Lys187Arg)
c.641A>G (p.Lys214Arg)
c.317A>G (p.Lys106Arg)
c.596A>G (p.Lys199Arg)
c.611A>G (p.Lys204Arg)
c.524A>G (p.Lys175Arg)
c.380A>G (p.Lys127Arg)
c.251A>G (p.Lys84Arg)
c.512A>G (p.Lys171Arg)
n.510A>G
n.92A>G
c.494A>G (p.Lys165Arg)
c.590A>G (p.Lys197Arg)
c.605A>G (p.Lys202Arg)
c.575A>G (p.Lys192Arg)
7g.74046750A>TCA367870310ELNc.626A>T (p.Lys209Met)
c.560A>T (p.Lys187Met)
c.641A>T (p.Lys214Met)
c.317A>T (p.Lys106Met)
c.596A>T (p.Lys199Met)
c.611A>T (p.Lys204Met)
c.524A>T (p.Lys175Met)
c.380A>T (p.Lys127Met)
c.251A>T (p.Lys84Met)
c.512A>T (p.Lys171Met)
n.510A>T
n.92A>T
c.494A>T (p.Lys165Met)
c.590A>T (p.Lys197Met)
c.605A>T (p.Lys202Met)
c.575A>T (p.Lys192Met)
7g.74046751G>ACA4292591ELNc.627G>A (p.Lys209=)
c.561G>A (p.Lys187=)
c.642G>A (p.Lys214=)
c.318G>A (p.Lys106=)
c.597G>A (p.Lys199=)
c.612G>A (p.Lys204=)
c.525G>A (p.Lys175=)
c.381G>A (p.Lys127=)
c.252G>A (p.Lys84=)
c.513G>A (p.Lys171=)
n.511G>A
n.93G>A
c.495G>A (p.Lys165=)
c.591G>A (p.Lys197=)
c.606G>A (p.Lys202=)
c.576G>A (p.Lys192=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.74046751G>CCA367870312ELNc.627G>C (p.Lys209Asn)
c.561G>C (p.Lys187Asn)
c.642G>C (p.Lys214Asn)
c.318G>C (p.Lys106Asn)
c.597G>C (p.Lys199Asn)
c.612G>C (p.Lys204Asn)
c.525G>C (p.Lys175Asn)
c.381G>C (p.Lys127Asn)
c.252G>C (p.Lys84Asn)
c.513G>C (p.Lys171Asn)
n.511G>C
n.93G>C
c.495G>C (p.Lys165Asn)
c.591G>C (p.Lys197Asn)
c.606G>C (p.Lys202Asn)
c.576G>C (p.Lys192Asn)
7g.74046751G=CA1717340904ELNc.627G= (p.Lys209=)
c.561G= (p.Lys187=)
c.642G= (p.Lys214=)
c.318G= (p.Lys106=)
c.597G= (p.Lys199=)
c.612G= (p.Lys204=)
c.525G= (p.Lys175=)
c.381G= (p.Lys127=)
c.252G= (p.Lys84=)
c.513G= (p.Lys171=)
n.511G=
n.93G=
c.495G= (p.Lys165=)
c.591G= (p.Lys197=)
c.606G= (p.Lys202=)
c.576G= (p.Lys192=)
7g.74046751G>TCA367870313ELNc.627G>T (p.Lys209Asn)
c.561G>T (p.Lys187Asn)
c.642G>T (p.Lys214Asn)
c.318G>T (p.Lys106Asn)
c.597G>T (p.Lys199Asn)
c.612G>T (p.Lys204Asn)
c.525G>T (p.Lys175Asn)
c.381G>T (p.Lys127Asn)
c.252G>T (p.Lys84Asn)
c.513G>T (p.Lys171Asn)
n.511G>T
n.93G>T
c.495G>T (p.Lys165Asn)
c.591G>T (p.Lys197Asn)
c.606G>T (p.Lys202Asn)
c.576G>T (p.Lys192Asn)
7g.74046752G>ACA367870314ELNc.628G>A (p.Ala210Thr)
c.562G>A (p.Ala188Thr)
c.643G>A (p.Ala215Thr)
c.319G>A (p.Ala107Thr)
c.598G>A (p.Ala200Thr)
c.613G>A (p.Ala205Thr)
c.526G>A (p.Ala176Thr)
c.382G>A (p.Ala128Thr)
c.253G>A (p.Ala85Thr)
c.514G>A (p.Ala172Thr)
n.512G>A
n.94G>A
c.496G>A (p.Ala166Thr)
c.592G>A (p.Ala198Thr)
c.607G>A (p.Ala203Thr)
c.577G>A (p.Ala193Thr)
7g.74046752G>CCA367870315ELNc.628G>C (p.Ala210Pro)
c.562G>C (p.Ala188Pro)
c.643G>C (p.Ala215Pro)
c.319G>C (p.Ala107Pro)
c.598G>C (p.Ala200Pro)
c.613G>C (p.Ala205Pro)
c.526G>C (p.Ala176Pro)
c.382G>C (p.Ala128Pro)
c.253G>C (p.Ala85Pro)
c.514G>C (p.Ala172Pro)
n.512G>C
n.94G>C
c.496G>C (p.Ala166Pro)
c.592G>C (p.Ala198Pro)
c.607G>C (p.Ala203Pro)
c.577G>C (p.Ala193Pro)
7g.74046752G>TCA367870316ELNc.628G>T (p.Ala210Ser)
c.562G>T (p.Ala188Ser)
c.643G>T (p.Ala215Ser)
c.319G>T (p.Ala107Ser)
c.598G>T (p.Ala200Ser)
c.613G>T (p.Ala205Ser)
c.526G>T (p.Ala176Ser)
c.382G>T (p.Ala128Ser)
c.253G>T (p.Ala85Ser)
c.514G>T (p.Ala172Ser)
n.512G>T
n.94G>T
c.496G>T (p.Ala166Ser)
c.592G>T (p.Ala198Ser)
c.607G>T (p.Ala203Ser)
c.577G>T (p.Ala193Ser)
7g.74046753C>ACA367870317ELNc.629C>A (p.Ala210Asp)
c.563C>A (p.Ala188Asp)
c.644C>A (p.Ala215Asp)
c.320C>A (p.Ala107Asp)
c.599C>A (p.Ala200Asp)
c.614C>A (p.Ala205Asp)
c.527C>A (p.Ala176Asp)
c.383C>A (p.Ala128Asp)
c.254C>A (p.Ala85Asp)
c.515C>A (p.Ala172Asp)
n.513C>A
n.95C>A
c.497C>A (p.Ala166Asp)
c.593C>A (p.Ala198Asp)
c.608C>A (p.Ala203Asp)
c.578C>A (p.Ala193Asp)
7g.74046753C>GCA367870318ELNc.629C>G (p.Ala210Gly)
c.563C>G (p.Ala188Gly)
c.644C>G (p.Ala215Gly)
c.320C>G (p.Ala107Gly)
c.599C>G (p.Ala200Gly)
c.614C>G (p.Ala205Gly)
c.527C>G (p.Ala176Gly)
c.383C>G (p.Ala128Gly)
c.254C>G (p.Ala85Gly)
c.515C>G (p.Ala172Gly)
n.513C>G
n.95C>G
c.497C>G (p.Ala166Gly)
c.593C>G (p.Ala198Gly)
c.608C>G (p.Ala203Gly)
c.578C>G (p.Ala193Gly)
7g.74046753C>TCA367870319ELNc.629C>T (p.Ala210Val)
c.563C>T (p.Ala188Val)
c.644C>T (p.Ala215Val)
c.320C>T (p.Ala107Val)
c.599C>T (p.Ala200Val)
c.614C>T (p.Ala205Val)
c.527C>T (p.Ala176Val)
c.383C>T (p.Ala128Val)
c.254C>T (p.Ala85Val)
c.515C>T (p.Ala172Val)
n.513C>T
n.95C>T
c.497C>T (p.Ala166Val)
c.593C>T (p.Ala198Val)
c.608C>T (p.Ala203Val)
c.578C>T (p.Ala193Val)
 gnomAD v4 COSMIC COSMIC
7g.74046757delCA2578907471ELNc.633del (p.Lys212SerfsTer?)
c.567del (p.Lys190SerfsTer?)
c.648del (p.Lys217SerfsTer?)
c.324del (p.Lys109SerfsTer?)
c.603del (p.Lys202SerfsTer?)
c.618del (p.Lys207SerfsTer?)
c.531del (p.Lys178SerfsTer?)
c.387del (p.Lys130SerfsTer?)
c.258del (p.Lys87SerfsTer?)
c.519del (p.Lys174SerfsTer?)
n.517del
n.99del
c.501del (p.Lys168SerfsTer?)
c.597del (p.Lys200SerfsTer?)
c.612del (p.Lys205SerfsTer?)
c.582del (p.Lys195SerfsTer?)
7g.74046754C>ACA455883525ELNc.630C>A (p.Ala210=)
c.564C>A (p.Ala188=)
c.645C>A (p.Ala215=)
c.321C>A (p.Ala107=)
c.600C>A (p.Ala200=)
c.615C>A (p.Ala205=)
c.528C>A (p.Ala176=)
c.384C>A (p.Ala128=)
c.255C>A (p.Ala85=)
c.516C>A (p.Ala172=)
n.514C>A
n.96C>A
c.498C>A (p.Ala166=)
c.594C>A (p.Ala198=)
c.609C>A (p.Ala203=)
c.579C>A (p.Ala193=)
7g.74046754C=CA1717340905ELNc.630C= (p.Ala210=)
c.564C= (p.Ala188=)
c.645C= (p.Ala215=)
c.321C= (p.Ala107=)
c.600C= (p.Ala200=)
c.615C= (p.Ala205=)
c.528C= (p.Ala176=)
c.384C= (p.Ala128=)
c.255C= (p.Ala85=)
c.516C= (p.Ala172=)
n.514C=
n.96C=
c.498C= (p.Ala166=)
c.594C= (p.Ala198=)
c.609C= (p.Ala203=)
c.579C= (p.Ala193=)
7g.74046754C>GCA455883523ELNc.630C>G (p.Ala210=)
c.564C>G (p.Ala188=)
c.645C>G (p.Ala215=)
c.321C>G (p.Ala107=)
c.600C>G (p.Ala200=)
c.615C>G (p.Ala205=)
c.528C>G (p.Ala176=)
c.384C>G (p.Ala128=)
c.255C>G (p.Ala85=)
c.516C>G (p.Ala172=)
n.514C>G
n.96C>G
c.498C>G (p.Ala166=)
c.594C>G (p.Ala198=)
c.609C>G (p.Ala203=)
c.579C>G (p.Ala193=)
 COSMIC
7g.74046754C>TCA455883526ELNc.630C>T (p.Ala210=)
c.564C>T (p.Ala188=)
c.645C>T (p.Ala215=)
c.321C>T (p.Ala107=)
c.600C>T (p.Ala200=)
c.615C>T (p.Ala205=)
c.528C>T (p.Ala176=)
c.384C>T (p.Ala128=)
c.255C>T (p.Ala85=)
c.516C>T (p.Ala172=)
n.514C>T
n.96C>T
c.498C>T (p.Ala166=)
c.594C>T (p.Ala198=)
c.609C>T (p.Ala203=)
c.579C>T (p.Ala193=)
 dbSNP gnomAD v3 gnomAD v4
7g.74046755C>ACA367870320ELNc.631C>A (p.Pro211Thr)
c.565C>A (p.Pro189Thr)
c.646C>A (p.Pro216Thr)
c.322C>A (p.Pro108Thr)
c.601C>A (p.Pro201Thr)
c.616C>A (p.Pro206Thr)
c.529C>A (p.Pro177Thr)
c.385C>A (p.Pro129Thr)
c.256C>A (p.Pro86Thr)
c.517C>A (p.Pro173Thr)
n.515C>A
n.97C>A
c.499C>A (p.Pro167Thr)
c.595C>A (p.Pro199Thr)
c.610C>A (p.Pro204Thr)
c.580C>A (p.Pro194Thr)
7g.74046755C=CA1717340906ELNc.631C= (p.Pro211=)
c.565C= (p.Pro189=)
c.646C= (p.Pro216=)
c.322C= (p.Pro108=)
c.601C= (p.Pro201=)
c.616C= (p.Pro206=)
c.529C= (p.Pro177=)
c.385C= (p.Pro129=)
c.256C= (p.Pro86=)
c.517C= (p.Pro173=)
n.515C=
n.97C=
c.499C= (p.Pro167=)
c.595C= (p.Pro199=)
c.610C= (p.Pro204=)
c.580C= (p.Pro194=)
7g.74046755C>GCA367870321ELNc.631C>G (p.Pro211Ala)
c.565C>G (p.Pro189Ala)
c.646C>G (p.Pro216Ala)
c.322C>G (p.Pro108Ala)
c.601C>G (p.Pro201Ala)
c.616C>G (p.Pro206Ala)
c.529C>G (p.Pro177Ala)
c.385C>G (p.Pro129Ala)
c.256C>G (p.Pro86Ala)
c.517C>G (p.Pro173Ala)
n.515C>G
n.97C>G
c.499C>G (p.Pro167Ala)
c.595C>G (p.Pro199Ala)
c.610C>G (p.Pro204Ala)
c.580C>G (p.Pro194Ala)
 COSMIC COSMIC
7g.74046755C>TCA16618557ELNc.631C>T (p.Pro211Ser)
c.565C>T (p.Pro189Ser)
c.646C>T (p.Pro216Ser)
c.322C>T (p.Pro108Ser)
c.601C>T (p.Pro201Ser)
c.616C>T (p.Pro206Ser)
c.529C>T (p.Pro177Ser)
c.385C>T (p.Pro129Ser)
c.256C>T (p.Pro86Ser)
c.517C>T (p.Pro173Ser)
n.515C>T
n.97C>T
c.499C>T (p.Pro167Ser)
c.595C>T (p.Pro199Ser)
c.610C>T (p.Pro204Ser)
c.580C>T (p.Pro194Ser)
 ClinVar dbSNP

Number of alleles fetched