Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.46402280_46402290delCA2655023551PCNTc.4996-51_4996-41del (n.4996-51_4996-41del)
c.*4206-51_*4206-41del (n.*4206-51_*4206-41del)
c.4963-51_4963-41del (n.4963-51_4963-41del)
n.5232-51_5232-41del
c.4609-51_4609-41del (n.4609-51_4609-41del)
c.5074-51_5074-41del (n.5074-51_5074-41del)
c.5044-51_5044-41del (n.5044-51_5044-41del)
c.4642-51_4642-41del (n.4642-51_4642-41del)
c.3880-51_3880-41del (n.3880-51_3880-41del)
c.2776-51_2776-41del (n.2776-51_2776-41del)
 gnomAD v4
21g.46402288T>GCA10079841PCNTc.4996-43T>G (n.4996-43T>G)
c.*4206-43T>G (n.*4206-43T>G)
c.4963-43T>G (n.4963-43T>G)
n.5232-43T>G
c.4609-43T>G (n.4609-43T>G)
c.5074-43T>G (n.5074-43T>G)
c.5044-43T>G (n.5044-43T>G)
c.4642-43T>G (n.4642-43T>G)
c.3880-43T>G (n.3880-43T>G)
c.2776-43T>G (n.2776-43T>G)
 dbSNP ExAC gnomAD v2
21g.46402288T=CA2392660187PCNTc.4996-43T= (n.4996-43T=)
c.*4206-43T= (n.*4206-43T=)
c.4963-43T= (n.4963-43T=)
n.5232-43T=
c.4609-43T= (n.4609-43T=)
c.5074-43T= (n.5074-43T=)
c.5044-43T= (n.5044-43T=)
c.4642-43T= (n.4642-43T=)
c.3880-43T= (n.3880-43T=)
c.2776-43T= (n.2776-43T=)
21g.46402290A>GCA2741702217PCNTc.4996-41A>G (n.4996-41A>G)
c.*4206-41A>G (n.*4206-41A>G)
c.4963-41A>G (n.4963-41A>G)
n.5232-41A>G
c.4609-41A>G (n.4609-41A>G)
c.5074-41A>G (n.5074-41A>G)
c.5044-41A>G (n.5044-41A>G)
c.4642-41A>G (n.4642-41A>G)
c.3880-41A>G (n.3880-41A>G)
c.2776-41A>G (n.2776-41A>G)
21g.46402291G>CCA10079842PCNTc.4996-40G>C (n.4996-40G>C)
c.*4206-40G>C (n.*4206-40G>C)
c.4963-40G>C (n.4963-40G>C)
n.5232-40G>C
c.4609-40G>C (n.4609-40G>C)
c.5074-40G>C (n.5074-40G>C)
c.5044-40G>C (n.5044-40G>C)
c.4642-40G>C (n.4642-40G>C)
c.3880-40G>C (n.3880-40G>C)
c.2776-40G>C (n.2776-40G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402291G=CA2392660188PCNTc.4996-40G= (n.4996-40G=)
c.*4206-40G= (n.*4206-40G=)
c.4963-40G= (n.4963-40G=)
n.5232-40G=
c.4609-40G= (n.4609-40G=)
c.5074-40G= (n.5074-40G=)
c.5044-40G= (n.5044-40G=)
c.4642-40G= (n.4642-40G=)
c.3880-40G= (n.3880-40G=)
c.2776-40G= (n.2776-40G=)
21g.46402292A=CA2392660189PCNTc.4996-39A= (n.4996-39A=)
c.*4206-39A= (n.*4206-39A=)
c.4963-39A= (n.4963-39A=)
n.5232-39A=
c.4609-39A= (n.4609-39A=)
c.5074-39A= (n.5074-39A=)
c.5044-39A= (n.5044-39A=)
c.4642-39A= (n.4642-39A=)
c.3880-39A= (n.3880-39A=)
c.2776-39A= (n.2776-39A=)
21g.46402292A>GCA322037829PCNTc.4996-39A>G (n.4996-39A>G)
c.*4206-39A>G (n.*4206-39A>G)
c.4963-39A>G (n.4963-39A>G)
n.5232-39A>G
c.4609-39A>G (n.4609-39A>G)
c.5074-39A>G (n.5074-39A>G)
c.5044-39A>G (n.5044-39A>G)
c.4642-39A>G (n.4642-39A>G)
c.3880-39A>G (n.3880-39A>G)
c.2776-39A>G (n.2776-39A>G)
 dbSNP gnomAD v4
21g.46402293T>CCA2655023559PCNTc.4996-38T>C (n.4996-38T>C)
c.*4206-38T>C (n.*4206-38T>C)
c.4963-38T>C (n.4963-38T>C)
n.5232-38T>C
c.4609-38T>C (n.4609-38T>C)
c.5074-38T>C (n.5074-38T>C)
c.5044-38T>C (n.5044-38T>C)
c.4642-38T>C (n.4642-38T>C)
c.3880-38T>C (n.3880-38T>C)
c.2776-38T>C (n.2776-38T>C)
 gnomAD v4
21g.46402294G>TCA2655023560PCNTc.4996-37G>T (n.4996-37G>T)
c.*4206-37G>T (n.*4206-37G>T)
c.4963-37G>T (n.4963-37G>T)
n.5232-37G>T
c.4609-37G>T (n.4609-37G>T)
c.5074-37G>T (n.5074-37G>T)
c.5044-37G>T (n.5044-37G>T)
c.4642-37G>T (n.4642-37G>T)
c.3880-37G>T (n.3880-37G>T)
c.2776-37G>T (n.2776-37G>T)
 gnomAD v4
21g.46402295A>GCA2655023561PCNTc.4996-36A>G (n.4996-36A>G)
c.*4206-36A>G (n.*4206-36A>G)
c.4963-36A>G (n.4963-36A>G)
n.5232-36A>G
c.4609-36A>G (n.4609-36A>G)
c.5074-36A>G (n.5074-36A>G)
c.5044-36A>G (n.5044-36A>G)
c.4642-36A>G (n.4642-36A>G)
c.3880-36A>G (n.3880-36A>G)
c.2776-36A>G (n.2776-36A>G)
 gnomAD v4
21g.46402296C>ACA2655023562PCNTc.4996-35C>A (n.4996-35C>A)
c.*4206-35C>A (n.*4206-35C>A)
c.4963-35C>A (n.4963-35C>A)
n.5232-35C>A
c.4609-35C>A (n.4609-35C>A)
c.5074-35C>A (n.5074-35C>A)
c.5044-35C>A (n.5044-35C>A)
c.4642-35C>A (n.4642-35C>A)
c.3880-35C>A (n.3880-35C>A)
c.2776-35C>A (n.2776-35C>A)
 gnomAD v4
21g.46402296C>TCA2514348771PCNTc.4996-35C>T (n.4996-35C>T)
c.*4206-35C>T (n.*4206-35C>T)
c.4963-35C>T (n.4963-35C>T)
n.5232-35C>T
c.4609-35C>T (n.4609-35C>T)
c.5074-35C>T (n.5074-35C>T)
c.5044-35C>T (n.5044-35C>T)
c.4642-35C>T (n.4642-35C>T)
c.3880-35C>T (n.3880-35C>T)
c.2776-35C>T (n.2776-35C>T)
 gnomAD v4
21g.46402296_46402298delinsCTTCA2392660190PCNTc.4996-35_4996-33delinsCTT (n.4996-35_4996-33delinsCTT)
c.*4206-35_*4206-33delinsCTT (n.*4206-35_*4206-33delinsCTT)
c.4963-35_4963-33delinsCTT (n.4963-35_4963-33delinsCTT)
n.5232-35_5232-33delinsCTT
c.4609-35_4609-33delinsCTT (n.4609-35_4609-33delinsCTT)
c.5074-35_5074-33delinsCTT (n.5074-35_5074-33delinsCTT)
c.5044-35_5044-33delinsCTT (n.5044-35_5044-33delinsCTT)
c.4642-35_4642-33delinsCTT (n.4642-35_4642-33delinsCTT)
c.3880-35_3880-33delinsCTT (n.3880-35_3880-33delinsCTT)
c.2776-35_2776-33delinsCTT (n.2776-35_2776-33delinsCTT)
21g.46402299_46402300delCA10079843PCNTc.4996-32_4996-31del (n.4996-32_4996-31del)
c.*4206-32_*4206-31del (n.*4206-32_*4206-31del)
c.4963-32_4963-31del (n.4963-32_4963-31del)
n.5232-32_5232-31del
c.4609-32_4609-31del (n.4609-32_4609-31del)
c.5074-32_5074-31del (n.5074-32_5074-31del)
c.5044-32_5044-31del (n.5044-32_5044-31del)
c.4642-32_4642-31del (n.4642-32_4642-31del)
c.3880-32_3880-31del (n.3880-32_3880-31del)
c.2776-32_2776-31del (n.2776-32_2776-31del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402299T>CCA10079844PCNTc.4996-32T>C (n.4996-32T>C)
c.*4206-32T>C (n.*4206-32T>C)
c.4963-32T>C (n.4963-32T>C)
n.5232-32T>C
c.4609-32T>C (n.4609-32T>C)
c.5074-32T>C (n.5074-32T>C)
c.5044-32T>C (n.5044-32T>C)
c.4642-32T>C (n.4642-32T>C)
c.3880-32T>C (n.3880-32T>C)
c.2776-32T>C (n.2776-32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402299T>GCA2655023563PCNTc.4996-32T>G (n.4996-32T>G)
c.*4206-32T>G (n.*4206-32T>G)
c.4963-32T>G (n.4963-32T>G)
n.5232-32T>G
c.4609-32T>G (n.4609-32T>G)
c.5074-32T>G (n.5074-32T>G)
c.5044-32T>G (n.5044-32T>G)
c.4642-32T>G (n.4642-32T>G)
c.3880-32T>G (n.3880-32T>G)
c.2776-32T>G (n.2776-32T>G)
 gnomAD v4
21g.46402299T=CA2392660191PCNTc.4996-32T= (n.4996-32T=)
c.*4206-32T= (n.*4206-32T=)
c.4963-32T= (n.4963-32T=)
n.5232-32T=
c.4609-32T= (n.4609-32T=)
c.5074-32T= (n.5074-32T=)
c.5044-32T= (n.5044-32T=)
c.4642-32T= (n.4642-32T=)
c.3880-32T= (n.3880-32T=)
c.2776-32T= (n.2776-32T=)
21g.46402301A>TCA2655023564PCNTc.4996-30A>T (n.4996-30A>T)
c.*4206-30A>T (n.*4206-30A>T)
c.4963-30A>T (n.4963-30A>T)
n.5232-30A>T
c.4609-30A>T (n.4609-30A>T)
c.5074-30A>T (n.5074-30A>T)
c.5044-30A>T (n.5044-30A>T)
c.4642-30A>T (n.4642-30A>T)
c.3880-30A>T (n.3880-30A>T)
c.2776-30A>T (n.2776-30A>T)
 gnomAD v4
21g.46402302A=CA2392660192PCNTc.4996-29A= (n.4996-29A=)
c.*4206-29A= (n.*4206-29A=)
c.4963-29A= (n.4963-29A=)
n.5232-29A=
c.4609-29A= (n.4609-29A=)
c.5074-29A= (n.5074-29A=)
c.5044-29A= (n.5044-29A=)
c.4642-29A= (n.4642-29A=)
c.3880-29A= (n.3880-29A=)
c.2776-29A= (n.2776-29A=)
21g.46402302A>GCA1022923286PCNTc.4996-29A>G (n.4996-29A>G)
c.*4206-29A>G (n.*4206-29A>G)
c.4963-29A>G (n.4963-29A>G)
n.5232-29A>G
c.4609-29A>G (n.4609-29A>G)
c.5074-29A>G (n.5074-29A>G)
c.5044-29A>G (n.5044-29A>G)
c.4642-29A>G (n.4642-29A>G)
c.3880-29A>G (n.3880-29A>G)
c.2776-29A>G (n.2776-29A>G)
 dbSNP gnomAD v3 gnomAD v4
21g.46402303T>GCA10079845PCNTc.4996-28T>G (n.4996-28T>G)
c.*4206-28T>G (n.*4206-28T>G)
c.4963-28T>G (n.4963-28T>G)
n.5232-28T>G
c.4609-28T>G (n.4609-28T>G)
c.5074-28T>G (n.5074-28T>G)
c.5044-28T>G (n.5044-28T>G)
c.4642-28T>G (n.4642-28T>G)
c.3880-28T>G (n.3880-28T>G)
c.2776-28T>G (n.2776-28T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402303T=CA2392660193PCNTc.4996-28T= (n.4996-28T=)
c.*4206-28T= (n.*4206-28T=)
c.4963-28T= (n.4963-28T=)
n.5232-28T=
c.4609-28T= (n.4609-28T=)
c.5074-28T= (n.5074-28T=)
c.5044-28T= (n.5044-28T=)
c.4642-28T= (n.4642-28T=)
c.3880-28T= (n.3880-28T=)
c.2776-28T= (n.2776-28T=)
21g.46402304A=CA2392660195PCNTc.4996-27A= (n.4996-27A=)
c.*4206-27A= (n.*4206-27A=)
c.4963-27A= (n.4963-27A=)
n.5232-27A=
c.4609-27A= (n.4609-27A=)
c.5074-27A= (n.5074-27A=)
c.5044-27A= (n.5044-27A=)
c.4642-27A= (n.4642-27A=)
c.3880-27A= (n.3880-27A=)
c.2776-27A= (n.2776-27A=)
21g.46402304A>GCA10079847PCNTc.4996-27A>G (n.4996-27A>G)
c.*4206-27A>G (n.*4206-27A>G)
c.4963-27A>G (n.4963-27A>G)
n.5232-27A>G
c.4609-27A>G (n.4609-27A>G)
c.5074-27A>G (n.5074-27A>G)
c.5044-27A>G (n.5044-27A>G)
c.4642-27A>G (n.4642-27A>G)
c.3880-27A>G (n.3880-27A>G)
c.2776-27A>G (n.2776-27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46402304A>TCA2655023565PCNTc.4996-27A>T (n.4996-27A>T)
c.*4206-27A>T (n.*4206-27A>T)
c.4963-27A>T (n.4963-27A>T)
n.5232-27A>T
c.4609-27A>T (n.4609-27A>T)
c.5074-27A>T (n.5074-27A>T)
c.5044-27A>T (n.5044-27A>T)
c.4642-27A>T (n.4642-27A>T)
c.3880-27A>T (n.3880-27A>T)
c.2776-27A>T (n.2776-27A>T)
 gnomAD v4
21g.46402304_46402309delinsACTTTTCA2392660194PCNTc.4996-27_4996-22delinsACTTTT (n.4996-27_4996-22delinsACTTTT)
c.*4206-27_*4206-22delinsACTTTT (n.*4206-27_*4206-22delinsACTTTT)
c.4963-27_4963-22delinsACTTTT (n.4963-27_4963-22delinsACTTTT)
n.5232-27_5232-22delinsACTTTT
c.4609-27_4609-22delinsACTTTT (n.4609-27_4609-22delinsACTTTT)
c.5074-27_5074-22delinsACTTTT (n.5074-27_5074-22delinsACTTTT)
c.5044-27_5044-22delinsACTTTT (n.5044-27_5044-22delinsACTTTT)
c.4642-27_4642-22delinsACTTTT (n.4642-27_4642-22delinsACTTTT)
c.3880-27_3880-22delinsACTTTT (n.3880-27_3880-22delinsACTTTT)
c.2776-27_2776-22delinsACTTTT (n.2776-27_2776-22delinsACTTTT)
21g.46402305C>ACA2542423902PCNTc.4996-26C>A (n.4996-26C>A)
c.*4206-26C>A (n.*4206-26C>A)
c.4963-26C>A (n.4963-26C>A)
n.5232-26C>A
c.4609-26C>A (n.4609-26C>A)
c.5074-26C>A (n.5074-26C>A)
c.5044-26C>A (n.5044-26C>A)
c.4642-26C>A (n.4642-26C>A)
c.3880-26C>A (n.3880-26C>A)
c.2776-26C>A (n.2776-26C>A)
 gnomAD v4
21g.46402308_46402312delCA10079846PCNTc.4996-23_4996-19del (n.4996-23_4996-19del)
c.*4206-23_*4206-19del (n.*4206-23_*4206-19del)
c.4963-23_4963-19del (n.4963-23_4963-19del)
n.5232-23_5232-19del
c.4609-23_4609-19del (n.4609-23_4609-19del)
c.5074-23_5074-19del (n.5074-23_5074-19del)
c.5044-23_5044-19del (n.5044-23_5044-19del)
c.4642-23_4642-19del (n.4642-23_4642-19del)
c.3880-23_3880-19del (n.3880-23_3880-19del)
c.2776-23_2776-19del (n.2776-23_2776-19del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46402306T>CCA2655023566PCNTc.4996-25T>C (n.4996-25T>C)
c.*4206-25T>C (n.*4206-25T>C)
c.4963-25T>C (n.4963-25T>C)
n.5232-25T>C
c.4609-25T>C (n.4609-25T>C)
c.5074-25T>C (n.5074-25T>C)
c.5044-25T>C (n.5044-25T>C)
c.4642-25T>C (n.4642-25T>C)
c.3880-25T>C (n.3880-25T>C)
c.2776-25T>C (n.2776-25T>C)
 gnomAD v4
21g.46402307T>CCA2655023567PCNTc.4996-24T>C (n.4996-24T>C)
c.*4206-24T>C (n.*4206-24T>C)
c.4963-24T>C (n.4963-24T>C)
n.5232-24T>C
c.4609-24T>C (n.4609-24T>C)
c.5074-24T>C (n.5074-24T>C)
c.5044-24T>C (n.5044-24T>C)
c.4642-24T>C (n.4642-24T>C)
c.3880-24T>C (n.3880-24T>C)
c.2776-24T>C (n.2776-24T>C)
 gnomAD v4
21g.46402307_46402310delinsTTTCCA2392660196PCNTc.4996-24_4996-21delinsTTTC (n.4996-24_4996-21delinsTTTC)
c.*4206-24_*4206-21delinsTTTC (n.*4206-24_*4206-21delinsTTTC)
c.4963-24_4963-21delinsTTTC (n.4963-24_4963-21delinsTTTC)
n.5232-24_5232-21delinsTTTC
c.4609-24_4609-21delinsTTTC (n.4609-24_4609-21delinsTTTC)
c.5074-24_5074-21delinsTTTC (n.5074-24_5074-21delinsTTTC)
c.5044-24_5044-21delinsTTTC (n.5044-24_5044-21delinsTTTC)
c.4642-24_4642-21delinsTTTC (n.4642-24_4642-21delinsTTTC)
c.3880-24_3880-21delinsTTTC (n.3880-24_3880-21delinsTTTC)
c.2776-24_2776-21delinsTTTC (n.2776-24_2776-21delinsTTTC)
21g.46402308T>CCA2655023568PCNTc.4996-23T>C (n.4996-23T>C)
c.*4206-23T>C (n.*4206-23T>C)
c.4963-23T>C (n.4963-23T>C)
n.5232-23T>C
c.4609-23T>C (n.4609-23T>C)
c.5074-23T>C (n.5074-23T>C)
c.5044-23T>C (n.5044-23T>C)
c.4642-23T>C (n.4642-23T>C)
c.3880-23T>C (n.3880-23T>C)
c.2776-23T>C (n.2776-23T>C)
 gnomAD v4
21g.46402313_46402315delCA2392660197PCNTc.4996-18_4996-16del (n.4996-18_4996-16del)
c.*4206-18_*4206-16del (n.*4206-18_*4206-16del)
c.4963-18_4963-16del (n.4963-18_4963-16del)
n.5232-18_5232-16del
c.4609-18_4609-16del (n.4609-18_4609-16del)
c.5074-18_5074-16del (n.5074-18_5074-16del)
c.5044-18_5044-16del (n.5044-18_5044-16del)
c.4642-18_4642-16del (n.4642-18_4642-16del)
c.3880-18_3880-16del (n.3880-18_3880-16del)
c.2776-18_2776-16del (n.2776-18_2776-16del)
 dbSNP gnomAD v4
21g.46402309_46402310delinsTCCA2392660198PCNTc.4996-22_4996-21delinsTC (n.4996-22_4996-21delinsTC)
c.*4206-22_*4206-21delinsTC (n.*4206-22_*4206-21delinsTC)
c.4963-22_4963-21delinsTC (n.4963-22_4963-21delinsTC)
n.5232-22_5232-21delinsTC
c.4609-22_4609-21delinsTC (n.4609-22_4609-21delinsTC)
c.5074-22_5074-21delinsTC (n.5074-22_5074-21delinsTC)
c.5044-22_5044-21delinsTC (n.5044-22_5044-21delinsTC)
c.4642-22_4642-21delinsTC (n.4642-22_4642-21delinsTC)
c.3880-22_3880-21delinsTC (n.3880-22_3880-21delinsTC)
c.2776-22_2776-21delinsTC (n.2776-22_2776-21delinsTC)
21g.46402310delCA10079848PCNTc.4996-21del (n.4996-21del)
c.*4206-21del (n.*4206-21del)
c.4963-21del (n.4963-21del)
n.5232-21del
c.4609-21del (n.4609-21del)
c.5074-21del (n.5074-21del)
c.5044-21del (n.5044-21del)
c.4642-21del (n.4642-21del)
c.3880-21del (n.3880-21del)
c.2776-21del (n.2776-21del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402310C=CA2392660199PCNTc.4996-21C= (n.4996-21C=)
c.*4206-21C= (n.*4206-21C=)
c.4963-21C= (n.4963-21C=)
n.5232-21C=
c.4609-21C= (n.4609-21C=)
c.5074-21C= (n.5074-21C=)
c.5044-21C= (n.5044-21C=)
c.4642-21C= (n.4642-21C=)
c.3880-21C= (n.3880-21C=)
c.2776-21C= (n.2776-21C=)
21g.46402310C>TCA749888031PCNTc.4996-21C>T (n.4996-21C>T)
c.*4206-21C>T (n.*4206-21C>T)
c.4963-21C>T (n.4963-21C>T)
n.5232-21C>T
c.4609-21C>T (n.4609-21C>T)
c.5074-21C>T (n.5074-21C>T)
c.5044-21C>T (n.5044-21C>T)
c.4642-21C>T (n.4642-21C>T)
c.3880-21C>T (n.3880-21C>T)
c.2776-21C>T (n.2776-21C>T)
 dbSNP gnomAD v4
21g.46402311T>CCA10079849PCNTc.4996-20T>C (n.4996-20T>C)
c.*4206-20T>C (n.*4206-20T>C)
c.4963-20T>C (n.4963-20T>C)
n.5232-20T>C
c.4609-20T>C (n.4609-20T>C)
c.5074-20T>C (n.5074-20T>C)
c.5044-20T>C (n.5044-20T>C)
c.4642-20T>C (n.4642-20T>C)
c.3880-20T>C (n.3880-20T>C)
c.2776-20T>C (n.2776-20T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402311T=CA2392660200PCNTc.4996-20T= (n.4996-20T=)
c.*4206-20T= (n.*4206-20T=)
c.4963-20T= (n.4963-20T=)
n.5232-20T=
c.4609-20T= (n.4609-20T=)
c.5074-20T= (n.5074-20T=)
c.5044-20T= (n.5044-20T=)
c.4642-20T= (n.4642-20T=)
c.3880-20T= (n.3880-20T=)
c.2776-20T= (n.2776-20T=)
21g.46402312T>ACA2655023569PCNTc.4996-19T>A (n.4996-19T>A)
c.*4206-19T>A (n.*4206-19T>A)
c.4963-19T>A (n.4963-19T>A)
n.5232-19T>A
c.4609-19T>A (n.4609-19T>A)
c.5074-19T>A (n.5074-19T>A)
c.5044-19T>A (n.5044-19T>A)
c.4642-19T>A (n.4642-19T>A)
c.3880-19T>A (n.3880-19T>A)
c.2776-19T>A (n.2776-19T>A)
 gnomAD v4
21g.46402313C=CA2392660201PCNTc.4996-18C= (n.4996-18C=)
c.*4206-18C= (n.*4206-18C=)
c.4963-18C= (n.4963-18C=)
n.5232-18C=
c.4609-18C= (n.4609-18C=)
c.5074-18C= (n.5074-18C=)
c.5044-18C= (n.5044-18C=)
c.4642-18C= (n.4642-18C=)
c.3880-18C= (n.3880-18C=)
c.2776-18C= (n.2776-18C=)
21g.46402313C>GCA10079850PCNTc.4996-18C>G (n.4996-18C>G)
c.*4206-18C>G (n.*4206-18C>G)
c.4963-18C>G (n.4963-18C>G)
n.5232-18C>G
c.4609-18C>G (n.4609-18C>G)
c.5074-18C>G (n.5074-18C>G)
c.5044-18C>G (n.5044-18C>G)
c.4642-18C>G (n.4642-18C>G)
c.3880-18C>G (n.3880-18C>G)
c.2776-18C>G (n.2776-18C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46402313C>TCA2392660202PCNTc.4996-18C>T (n.4996-18C>T)
c.*4206-18C>T (n.*4206-18C>T)
c.4963-18C>T (n.4963-18C>T)
n.5232-18C>T
c.4609-18C>T (n.4609-18C>T)
c.5074-18C>T (n.5074-18C>T)
c.5044-18C>T (n.5044-18C>T)
c.4642-18C>T (n.4642-18C>T)
c.3880-18C>T (n.3880-18C>T)
c.2776-18C>T (n.2776-18C>T)
 dbSNP gnomAD v4
21g.46402313_46402316delinsCTTTCA2392660203PCNTc.4996-18_4996-15delinsCTTT (n.4996-18_4996-15delinsCTTT)
c.*4206-18_*4206-15delinsCTTT (n.*4206-18_*4206-15delinsCTTT)
c.4963-18_4963-15delinsCTTT (n.4963-18_4963-15delinsCTTT)
n.5232-18_5232-15delinsCTTT
c.4609-18_4609-15delinsCTTT (n.4609-18_4609-15delinsCTTT)
c.5074-18_5074-15delinsCTTT (n.5074-18_5074-15delinsCTTT)
c.5044-18_5044-15delinsCTTT (n.5044-18_5044-15delinsCTTT)
c.4642-18_4642-15delinsCTTT (n.4642-18_4642-15delinsCTTT)
c.3880-18_3880-15delinsCTTT (n.3880-18_3880-15delinsCTTT)
c.2776-18_2776-15delinsCTTT (n.2776-18_2776-15delinsCTTT)
21g.46402313_46402317delinsCTTTTCA2392660205PCNTc.4996-18_4996-14delinsCTTTT (n.4996-18_4996-14delinsCTTTT)
c.*4206-18_*4206-14delinsCTTTT (n.*4206-18_*4206-14delinsCTTTT)
c.4963-18_4963-14delinsCTTTT (n.4963-18_4963-14delinsCTTTT)
n.5232-18_5232-14delinsCTTTT
c.4609-18_4609-14delinsCTTTT (n.4609-18_4609-14delinsCTTTT)
c.5074-18_5074-14delinsCTTTT (n.5074-18_5074-14delinsCTTTT)
c.5044-18_5044-14delinsCTTTT (n.5044-18_5044-14delinsCTTTT)
c.4642-18_4642-14delinsCTTTT (n.4642-18_4642-14delinsCTTTT)
c.3880-18_3880-14delinsCTTTT (n.3880-18_3880-14delinsCTTTT)
c.2776-18_2776-14delinsCTTTT (n.2776-18_2776-14delinsCTTTT)
21g.46402313_46402318delinsCTTTTGCA2392660204PCNTc.4996-18_4996-13delinsCTTTTG (n.4996-18_4996-13delinsCTTTTG)
c.*4206-18_*4206-13delinsCTTTTG (n.*4206-18_*4206-13delinsCTTTTG)
c.4963-18_4963-13delinsCTTTTG (n.4963-18_4963-13delinsCTTTTG)
n.5232-18_5232-13delinsCTTTTG
c.4609-18_4609-13delinsCTTTTG (n.4609-18_4609-13delinsCTTTTG)
c.5074-18_5074-13delinsCTTTTG (n.5074-18_5074-13delinsCTTTTG)
c.5044-18_5044-13delinsCTTTTG (n.5044-18_5044-13delinsCTTTTG)
c.4642-18_4642-13delinsCTTTTG (n.4642-18_4642-13delinsCTTTTG)
c.3880-18_3880-13delinsCTTTTG (n.3880-18_3880-13delinsCTTTTG)
c.2776-18_2776-13delinsCTTTTG (n.2776-18_2776-13delinsCTTTTG)
21g.46402314_46402317delCA638211398PCNTc.4996-17_4996-14del (n.4996-17_4996-14del)
c.*4206-17_*4206-14del (n.*4206-17_*4206-14del)
c.4963-17_4963-14del (n.4963-17_4963-14del)
n.5232-17_5232-14del
c.4609-17_4609-14del (n.4609-17_4609-14del)
c.5074-17_5074-14del (n.5074-17_5074-14del)
c.5044-17_5044-14del (n.5044-17_5044-14del)
c.4642-17_4642-14del (n.4642-17_4642-14del)
c.3880-17_3880-14del (n.3880-17_3880-14del)
c.2776-17_2776-14del (n.2776-17_2776-14del)
 dbSNP gnomAD v2 gnomAD v4
21g.46402315_46402317delCA10079851PCNTc.4996-16_4996-14del (n.4996-16_4996-14del)
c.*4206-16_*4206-14del (n.*4206-16_*4206-14del)
c.4963-16_4963-14del (n.4963-16_4963-14del)
n.5232-16_5232-14del
c.4609-16_4609-14del (n.4609-16_4609-14del)
c.5074-16_5074-14del (n.5074-16_5074-14del)
c.5044-16_5044-14del (n.5044-16_5044-14del)
c.4642-16_4642-14del (n.4642-16_4642-14del)
c.3880-16_3880-14del (n.3880-16_3880-14del)
c.2776-16_2776-14del (n.2776-16_2776-14del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402318_46402322delCA749888038PCNTc.4996-13_4996-9del (n.4996-13_4996-9del)
c.*4206-13_*4206-9del (n.*4206-13_*4206-9del)
c.4963-13_4963-9del (n.4963-13_4963-9del)
n.5232-13_5232-9del
c.4609-13_4609-9del (n.4609-13_4609-9del)
c.5074-13_5074-9del (n.5074-13_5074-9del)
c.5044-13_5044-9del (n.5044-13_5044-9del)
c.4642-13_4642-9del (n.4642-13_4642-9del)
c.3880-13_3880-9del (n.3880-13_3880-9del)
c.2776-13_2776-9del (n.2776-13_2776-9del)
 dbSNP gnomAD v3 gnomAD v4
21g.46402315T>GCA2655023570PCNTc.4996-16T>G (n.4996-16T>G)
c.*4206-16T>G (n.*4206-16T>G)
c.4963-16T>G (n.4963-16T>G)
n.5232-16T>G
c.4609-16T>G (n.4609-16T>G)
c.5074-16T>G (n.5074-16T>G)
c.5044-16T>G (n.5044-16T>G)
c.4642-16T>G (n.4642-16T>G)
c.3880-16T>G (n.3880-16T>G)
c.2776-16T>G (n.2776-16T>G)
 gnomAD v4
21g.46402316T>CCA2655023571PCNTc.4996-15T>C (n.4996-15T>C)
c.*4206-15T>C (n.*4206-15T>C)
c.4963-15T>C (n.4963-15T>C)
n.5232-15T>C
c.4609-15T>C (n.4609-15T>C)
c.5074-15T>C (n.5074-15T>C)
c.5044-15T>C (n.5044-15T>C)
c.4642-15T>C (n.4642-15T>C)
c.3880-15T>C (n.3880-15T>C)
c.2776-15T>C (n.2776-15T>C)
 dbSNP gnomAD v4
21g.46402317T>ACA2577633973PCNTc.4996-14T>A (n.4996-14T>A)
c.*4206-14T>A (n.*4206-14T>A)
c.4963-14T>A (n.4963-14T>A)
n.5232-14T>A
c.4609-14T>A (n.4609-14T>A)
c.5074-14T>A (n.5074-14T>A)
c.5044-14T>A (n.5044-14T>A)
c.4642-14T>A (n.4642-14T>A)
c.3880-14T>A (n.3880-14T>A)
c.2776-14T>A (n.2776-14T>A)
21g.46402317T>GCA638211400PCNTc.4996-14T>G (n.4996-14T>G)
c.*4206-14T>G (n.*4206-14T>G)
c.4963-14T>G (n.4963-14T>G)
n.5232-14T>G
c.4609-14T>G (n.4609-14T>G)
c.5074-14T>G (n.5074-14T>G)
c.5044-14T>G (n.5044-14T>G)
c.4642-14T>G (n.4642-14T>G)
c.3880-14T>G (n.3880-14T>G)
c.2776-14T>G (n.2776-14T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46402317T=CA2392660206PCNTc.4996-14T= (n.4996-14T=)
c.*4206-14T= (n.*4206-14T=)
c.4963-14T= (n.4963-14T=)
n.5232-14T=
c.4609-14T= (n.4609-14T=)
c.5074-14T= (n.5074-14T=)
c.5044-14T= (n.5044-14T=)
c.4642-14T= (n.4642-14T=)
c.3880-14T= (n.3880-14T=)
c.2776-14T= (n.2776-14T=)
21g.46402318G>ACA2392660208PCNTc.4996-13G>A (n.4996-13G>A)
c.*4206-13G>A (n.*4206-13G>A)
c.4963-13G>A (n.4963-13G>A)
n.5232-13G>A
c.4609-13G>A (n.4609-13G>A)
c.5074-13G>A (n.5074-13G>A)
c.5044-13G>A (n.5044-13G>A)
c.4642-13G>A (n.4642-13G>A)
c.3880-13G>A (n.3880-13G>A)
c.2776-13G>A (n.2776-13G>A)
 dbSNP gnomAD v3 gnomAD v4
21g.46402318G=CA2392660207PCNTc.4996-13G= (n.4996-13G=)
c.*4206-13G= (n.*4206-13G=)
c.4963-13G= (n.4963-13G=)
n.5232-13G=
c.4609-13G= (n.4609-13G=)
c.5074-13G= (n.5074-13G=)
c.5044-13G= (n.5044-13G=)
c.4642-13G= (n.4642-13G=)
c.3880-13G= (n.3880-13G=)
c.2776-13G= (n.2776-13G=)
21g.46402320T>CCA2655023572PCNTc.4996-11T>C (n.4996-11T>C)
c.*4206-11T>C (n.*4206-11T>C)
c.4963-11T>C (n.4963-11T>C)
n.5232-11T>C
c.4609-11T>C (n.4609-11T>C)
c.5074-11T>C (n.5074-11T>C)
c.5044-11T>C (n.5044-11T>C)
c.4642-11T>C (n.4642-11T>C)
c.3880-11T>C (n.3880-11T>C)
c.2776-11T>C (n.2776-11T>C)
 gnomAD v4
21g.46402321T>ACA2392660210PCNTc.4996-10T>A (n.4996-10T>A)
c.*4206-10T>A (n.*4206-10T>A)
c.4963-10T>A (n.4963-10T>A)
n.5232-10T>A
c.4609-10T>A (n.4609-10T>A)
c.5074-10T>A (n.5074-10T>A)
c.5044-10T>A (n.5044-10T>A)
c.4642-10T>A (n.4642-10T>A)
c.3880-10T>A (n.3880-10T>A)
c.2776-10T>A (n.2776-10T>A)
 dbSNP gnomAD v4
21g.46402321T=CA2392660209PCNTc.4996-10T= (n.4996-10T=)
c.*4206-10T= (n.*4206-10T=)
c.4963-10T= (n.4963-10T=)
n.5232-10T=
c.4609-10T= (n.4609-10T=)
c.5074-10T= (n.5074-10T=)
c.5044-10T= (n.5044-10T=)
c.4642-10T= (n.4642-10T=)
c.3880-10T= (n.3880-10T=)
c.2776-10T= (n.2776-10T=)
21g.46402322T>ACA2737553331PCNTc.4996-9T>A (n.4996-9T>A)
c.*4206-9T>A (n.*4206-9T>A)
c.4963-9T>A (n.4963-9T>A)
n.5232-9T>A
c.4609-9T>A (n.4609-9T>A)
c.5074-9T>A (n.5074-9T>A)
c.5044-9T>A (n.5044-9T>A)
c.4642-9T>A (n.4642-9T>A)
c.3880-9T>A (n.3880-9T>A)
c.2776-9T>A (n.2776-9T>A)
 dbSNP
21g.46402322T>GCA638211402PCNTc.4996-9T>G (n.4996-9T>G)
c.*4206-9T>G (n.*4206-9T>G)
c.4963-9T>G (n.4963-9T>G)
n.5232-9T>G
c.4609-9T>G (n.4609-9T>G)
c.5074-9T>G (n.5074-9T>G)
c.5044-9T>G (n.5044-9T>G)
c.4642-9T>G (n.4642-9T>G)
c.3880-9T>G (n.3880-9T>G)
c.2776-9T>G (n.2776-9T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46402322T=CA2392660211PCNTc.4996-9T= (n.4996-9T=)
c.*4206-9T= (n.*4206-9T=)
c.4963-9T= (n.4963-9T=)
n.5232-9T=
c.4609-9T= (n.4609-9T=)
c.5074-9T= (n.5074-9T=)
c.5044-9T= (n.5044-9T=)
c.4642-9T= (n.4642-9T=)
c.3880-9T= (n.3880-9T=)
c.2776-9T= (n.2776-9T=)
21g.46402323A=CA2392660212PCNTc.4996-8A= (n.4996-8A=)
c.*4206-8A= (n.*4206-8A=)
c.4963-8A= (n.4963-8A=)
n.5232-8A=
c.4609-8A= (n.4609-8A=)
c.5074-8A= (n.5074-8A=)
c.5044-8A= (n.5044-8A=)
c.4642-8A= (n.4642-8A=)
c.3880-8A= (n.3880-8A=)
c.2776-8A= (n.2776-8A=)
21g.46402323A>GCA2739267769PCNTc.4996-8A>G (n.4996-8A>G)
c.*4206-8A>G (n.*4206-8A>G)
c.4963-8A>G (n.4963-8A>G)
n.5232-8A>G
c.4609-8A>G (n.4609-8A>G)
c.5074-8A>G (n.5074-8A>G)
c.5044-8A>G (n.5044-8A>G)
c.4642-8A>G (n.4642-8A>G)
c.3880-8A>G (n.3880-8A>G)
c.2776-8A>G (n.2776-8A>G)
 ClinVar
21g.46402323A>TCA10079852PCNTc.4996-8A>T (n.4996-8A>T)
c.*4206-8A>T (n.*4206-8A>T)
c.4963-8A>T (n.4963-8A>T)
n.5232-8A>T
c.4609-8A>T (n.4609-8A>T)
c.5074-8A>T (n.5074-8A>T)
c.5044-8A>T (n.5044-8A>T)
c.4642-8A>T (n.4642-8A>T)
c.3880-8A>T (n.3880-8A>T)
c.2776-8A>T (n.2776-8A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402324A=CA2392660213PCNTc.4996-7A= (n.4996-7A=)
c.*4206-7A= (n.*4206-7A=)
c.4963-7A= (n.4963-7A=)
n.5232-7A=
c.4609-7A= (n.4609-7A=)
c.5074-7A= (n.5074-7A=)
c.5044-7A= (n.5044-7A=)
c.4642-7A= (n.4642-7A=)
c.3880-7A= (n.3880-7A=)
c.2776-7A= (n.2776-7A=)
21g.46402324A>GCA2392660214PCNTc.4996-7A>G (n.4996-7A>G)
c.*4206-7A>G (n.*4206-7A>G)
c.4963-7A>G (n.4963-7A>G)
n.5232-7A>G
c.4609-7A>G (n.4609-7A>G)
c.5074-7A>G (n.5074-7A>G)
c.5044-7A>G (n.5044-7A>G)
c.4642-7A>G (n.4642-7A>G)
c.3880-7A>G (n.3880-7A>G)
c.2776-7A>G (n.2776-7A>G)
 dbSNP gnomAD v4
21g.46402324A>TCA10079853PCNTc.4996-7A>T (n.4996-7A>T)
c.*4206-7A>T (n.*4206-7A>T)
c.4963-7A>T (n.4963-7A>T)
n.5232-7A>T
c.4609-7A>T (n.4609-7A>T)
c.5074-7A>T (n.5074-7A>T)
c.5044-7A>T (n.5044-7A>T)
c.4642-7A>T (n.4642-7A>T)
c.3880-7A>T (n.3880-7A>T)
c.2776-7A>T (n.2776-7A>T)
 dbSNP ExAC gnomAD v2
21g.46402325T>CCA2655023573PCNTc.4996-6T>C (n.4996-6T>C)
c.*4206-6T>C (n.*4206-6T>C)
c.4963-6T>C (n.4963-6T>C)
n.5232-6T>C
c.4609-6T>C (n.4609-6T>C)
c.5074-6T>C (n.5074-6T>C)
c.5044-6T>C (n.5044-6T>C)
c.4642-6T>C (n.4642-6T>C)
c.3880-6T>C (n.3880-6T>C)
c.2776-6T>C (n.2776-6T>C)
 gnomAD v4
21g.46402325T>GCA2392660216PCNTc.4996-6T>G (n.4996-6T>G)
c.*4206-6T>G (n.*4206-6T>G)
c.4963-6T>G (n.4963-6T>G)
n.5232-6T>G
c.4609-6T>G (n.4609-6T>G)
c.5074-6T>G (n.5074-6T>G)
c.5044-6T>G (n.5044-6T>G)
c.4642-6T>G (n.4642-6T>G)
c.3880-6T>G (n.3880-6T>G)
c.2776-6T>G (n.2776-6T>G)
 dbSNP
21g.46402325T=CA2392660215PCNTc.4996-6T= (n.4996-6T=)
c.*4206-6T= (n.*4206-6T=)
c.4963-6T= (n.4963-6T=)
n.5232-6T=
c.4609-6T= (n.4609-6T=)
c.5074-6T= (n.5074-6T=)
c.5044-6T= (n.5044-6T=)
c.4642-6T= (n.4642-6T=)
c.3880-6T= (n.3880-6T=)
c.2776-6T= (n.2776-6T=)
21g.46402326G>ACA638211408PCNTc.4996-5G>A (n.4996-5G>A)
c.*4206-5G>A (n.*4206-5G>A)
c.4963-5G>A (n.4963-5G>A)
n.5232-5G>A
c.4609-5G>A (n.4609-5G>A)
c.5074-5G>A (n.5074-5G>A)
c.5044-5G>A (n.5044-5G>A)
c.4642-5G>A (n.4642-5G>A)
c.3880-5G>A (n.3880-5G>A)
c.2776-5G>A (n.2776-5G>A)
 dbSNP gnomAD v2 gnomAD v4
21g.46402326G=CA2392660217PCNTc.4996-5G= (n.4996-5G=)
c.*4206-5G= (n.*4206-5G=)
c.4963-5G= (n.4963-5G=)
n.5232-5G=
c.4609-5G= (n.4609-5G=)
c.5074-5G= (n.5074-5G=)
c.5044-5G= (n.5044-5G=)
c.4642-5G= (n.4642-5G=)
c.3880-5G= (n.3880-5G=)
c.2776-5G= (n.2776-5G=)
21g.46402331_46402346delCA2655023574PCNTc.4996_5011del
c.*4206_*4221del
c.4963_4978del
n.5232_5247del
c.4609_4624del
c.5074_5089del
c.5044_5059del
c.4642_4657del
c.3880_3895del
c.2776_2791del
 gnomAD v4
21g.46402328A>GCA2655023575PCNTc.4996-3A>G (n.4996-3A>G)
c.*4206-3A>G (n.*4206-3A>G)
c.4963-3A>G (n.4963-3A>G)
n.5232-3A>G
c.4609-3A>G (n.4609-3A>G)
c.5074-3A>G (n.5074-3A>G)
c.5044-3A>G (n.5044-3A>G)
c.4642-3A>G (n.4642-3A>G)
c.3880-3A>G (n.3880-3A>G)
c.2776-3A>G (n.2776-3A>G)
 gnomAD v4
21g.46402329A=CA2392660218PCNTc.4996-2A= (n.4996-2A=)
c.*4206-2A= (n.*4206-2A=)
c.4963-2A= (n.4963-2A=)
n.5232-2A=
c.4609-2A= (n.4609-2A=)
c.5074-2A= (n.5074-2A=)
c.5044-2A= (n.5044-2A=)
c.4642-2A= (n.4642-2A=)
c.3880-2A= (n.3880-2A=)
c.2776-2A= (n.2776-2A=)
21g.46402329A>CCA410581629PCNTc.4996-2A>C (n.4996-2A>C)
c.*4206-2A>C (n.*4206-2A>C)
c.4963-2A>C (n.4963-2A>C)
n.5232-2A>C
c.4609-2A>C (n.4609-2A>C)
c.5074-2A>C (n.5074-2A>C)
c.5044-2A>C (n.5044-2A>C)
c.4642-2A>C (n.4642-2A>C)
c.3880-2A>C (n.3880-2A>C)
c.2776-2A>C (n.2776-2A>C)
 gnomAD v4
21g.46402329A>GCA322037837PCNTc.4996-2A>G (n.4996-2A>G)
c.*4206-2A>G (n.*4206-2A>G)
c.4963-2A>G (n.4963-2A>G)
n.5232-2A>G
c.4609-2A>G (n.4609-2A>G)
c.5074-2A>G (n.5074-2A>G)
c.5044-2A>G (n.5044-2A>G)
c.4642-2A>G (n.4642-2A>G)
c.3880-2A>G (n.3880-2A>G)
c.2776-2A>G (n.2776-2A>G)
 dbSNP gnomAD v4
21g.46402329A>TCA410581631PCNTc.4996-2A>T (n.4996-2A>T)
c.*4206-2A>T (n.*4206-2A>T)
c.4963-2A>T (n.4963-2A>T)
n.5232-2A>T
c.4609-2A>T (n.4609-2A>T)
c.5074-2A>T (n.5074-2A>T)
c.5044-2A>T (n.5044-2A>T)
c.4642-2A>T (n.4642-2A>T)
c.3880-2A>T (n.3880-2A>T)
c.2776-2A>T (n.2776-2A>T)
21g.46402330G>ACA410581632PCNTc.4996-1G>A (n.4996-1G>A)
c.*4206-1G>A (n.*4206-1G>A)
c.4963-1G>A (n.4963-1G>A)
n.5232-1G>A
c.4609-1G>A (n.4609-1G>A)
c.5074-1G>A (n.5074-1G>A)
c.5044-1G>A (n.5044-1G>A)
c.4642-1G>A (n.4642-1G>A)
c.3880-1G>A (n.3880-1G>A)
c.2776-1G>A (n.2776-1G>A)
21g.46402330G>CCA410581634PCNTc.4996-1G>C (n.4996-1G>C)
c.*4206-1G>C (n.*4206-1G>C)
c.4963-1G>C (n.4963-1G>C)
n.5232-1G>C
c.4609-1G>C (n.4609-1G>C)
c.5074-1G>C (n.5074-1G>C)
c.5044-1G>C (n.5044-1G>C)
c.4642-1G>C (n.4642-1G>C)
c.3880-1G>C (n.3880-1G>C)
c.2776-1G>C (n.2776-1G>C)
21g.46402330G>TCA410581635PCNTc.4996-1G>T (n.4996-1G>T)
c.*4206-1G>T (n.*4206-1G>T)
c.4963-1G>T (n.4963-1G>T)
n.5232-1G>T
c.4609-1G>T (n.4609-1G>T)
c.5074-1G>T (n.5074-1G>T)
c.5044-1G>T (n.5044-1G>T)
c.4642-1G>T (n.4642-1G>T)
c.3880-1G>T (n.3880-1G>T)
c.2776-1G>T (n.2776-1G>T)
21g.46402331G>ACA410581637PCNTc.4996G>A (p.Val1666Ile)
c.*4206G>A (n.*4206G>A)
c.4963G>A (p.Val1655Ile)
n.5232G>A
c.4609G>A (p.Val1537Ile)
c.5074G>A (p.Val1692Ile)
c.5044G>A (p.Val1682Ile)
c.4642G>A (p.Val1548Ile)
c.3880G>A (p.Val1294Ile)
c.2776G>A (p.Val926Ile)
 gnomAD v4
21g.46402331G>CCA410581638PCNTc.4996G>C (p.Val1666Leu)
c.*4206G>C (n.*4206G>C)
c.4963G>C (p.Val1655Leu)
n.5232G>C
c.4609G>C (p.Val1537Leu)
c.5074G>C (p.Val1692Leu)
c.5044G>C (p.Val1682Leu)
c.4642G>C (p.Val1548Leu)
c.3880G>C (p.Val1294Leu)
c.2776G>C (p.Val926Leu)
21g.46402331G>TCA410581640PCNTc.4996G>T (p.Val1666Phe)
c.*4206G>T (n.*4206G>T)
c.4963G>T (p.Val1655Phe)
n.5232G>T
c.4609G>T (p.Val1537Phe)
c.5074G>T (p.Val1692Phe)
c.5044G>T (p.Val1682Phe)
c.4642G>T (p.Val1548Phe)
c.3880G>T (p.Val1294Phe)
c.2776G>T (p.Val926Phe)
21g.46402332T>ACA410581641PCNTc.4997T>A (p.Val1666Asp)
c.*4207T>A (n.*4207T>A)
c.4964T>A (p.Val1655Asp)
n.5233T>A
c.4610T>A (p.Val1537Asp)
c.5075T>A (p.Val1692Asp)
c.5045T>A (p.Val1682Asp)
c.4643T>A (p.Val1548Asp)
c.3881T>A (p.Val1294Asp)
c.2777T>A (p.Val926Asp)
21g.46402332T>CCA410581642PCNTc.4997T>C (p.Val1666Ala)
c.*4207T>C (n.*4207T>C)
c.4964T>C (p.Val1655Ala)
n.5233T>C
c.4610T>C (p.Val1537Ala)
c.5075T>C (p.Val1692Ala)
c.5045T>C (p.Val1682Ala)
c.4643T>C (p.Val1548Ala)
c.3881T>C (p.Val1294Ala)
c.2777T>C (p.Val926Ala)
21g.46402332T>GCA410581644PCNTc.4997T>G (p.Val1666Gly)
c.*4207T>G (n.*4207T>G)
c.4964T>G (p.Val1655Gly)
n.5233T>G
c.4610T>G (p.Val1537Gly)
c.5075T>G (p.Val1692Gly)
c.5045T>G (p.Val1682Gly)
c.4643T>G (p.Val1548Gly)
c.3881T>G (p.Val1294Gly)
c.2777T>G (p.Val926Gly)
21g.46402335delCA2655023576PCNTc.5000del (p.Leu1667TrpfsTer3)
c.*4210del (n.*4210del)
c.4967del (p.Leu1656TrpfsTer3)
n.5236del
c.4613del (p.Leu1538TrpfsTer3)
c.5078del (p.Leu1693TrpfsTer3)
c.5048del (p.Leu1683TrpfsTer3)
c.4646del (p.Leu1549TrpfsTer3)
c.3884del (p.Leu1295TrpfsTer3)
c.2780del (p.Leu927TrpfsTer3)
 gnomAD v4
21g.46402333T>ACA512745721PCNTc.4998T>A (p.Val1666=)
c.*4208T>A (n.*4208T>A)
c.4965T>A (p.Val1655=)
n.5234T>A
c.4611T>A (p.Val1537=)
c.5076T>A (p.Val1692=)
c.5046T>A (p.Val1682=)
c.4644T>A (p.Val1548=)
c.3882T>A (p.Val1294=)
c.2778T>A (p.Val926=)
21g.46402333T>CCA512745725PCNTc.4998T>C (p.Val1666=)
c.*4208T>C (n.*4208T>C)
c.4965T>C (p.Val1655=)
n.5234T>C
c.4611T>C (p.Val1537=)
c.5076T>C (p.Val1692=)
c.5046T>C (p.Val1682=)
c.4644T>C (p.Val1548=)
c.3882T>C (p.Val1294=)
c.2778T>C (p.Val926=)
21g.46402333T>GCA512745727PCNTc.4998T>G (p.Val1666=)
c.*4208T>G (n.*4208T>G)
c.4965T>G (p.Val1655=)
n.5234T>G
c.4611T>G (p.Val1537=)
c.5076T>G (p.Val1692=)
c.5046T>G (p.Val1682=)
c.4644T>G (p.Val1548=)
c.3882T>G (p.Val1294=)
c.2778T>G (p.Val926=)
21g.46402334T>ACA410581645PCNTc.4999T>A (p.Leu1667Met)
c.*4209T>A (n.*4209T>A)
c.4966T>A (p.Leu1656Met)
n.5235T>A
c.4612T>A (p.Leu1538Met)
c.5077T>A (p.Leu1693Met)
c.5047T>A (p.Leu1683Met)
c.4645T>A (p.Leu1549Met)
c.3883T>A (p.Leu1295Met)
c.2779T>A (p.Leu927Met)
21g.46402334T>CCA512745731PCNTc.4999T>C (p.Leu1667=)
c.*4209T>C (n.*4209T>C)
c.4966T>C (p.Leu1656=)
n.5235T>C
c.4612T>C (p.Leu1538=)
c.5077T>C (p.Leu1693=)
c.5047T>C (p.Leu1683=)
c.4645T>C (p.Leu1549=)
c.3883T>C (p.Leu1295=)
c.2779T>C (p.Leu927=)
 dbSNP gnomAD v2 gnomAD v4
21g.46402334T>GCA410581646PCNTc.4999T>G (p.Leu1667Val)
c.*4209T>G (n.*4209T>G)
c.4966T>G (p.Leu1656Val)
n.5235T>G
c.4612T>G (p.Leu1538Val)
c.5077T>G (p.Leu1693Val)
c.5047T>G (p.Leu1683Val)
c.4645T>G (p.Leu1549Val)
c.3883T>G (p.Leu1295Val)
c.2779T>G (p.Leu927Val)
 dbSNP gnomAD v2 gnomAD v4
21g.46402334T=CA2392660219PCNTc.4999T= (p.Leu1667=)
c.*4209T= (n.*4209T=)
c.4966T= (p.Leu1656=)
n.5235T=
c.4612T= (p.Leu1538=)
c.5077T= (p.Leu1693=)
c.5047T= (p.Leu1683=)
c.4645T= (p.Leu1549=)
c.3883T= (p.Leu1295=)
c.2779T= (p.Leu927=)
21g.46402335T>ACA410581648PCNTc.5000T>A (p.Leu1667Ter)
c.*4210T>A (n.*4210T>A)
c.4967T>A (p.Leu1656Ter)
n.5236T>A
c.4613T>A (p.Leu1538Ter)
c.5078T>A (p.Leu1693Ter)
c.5048T>A (p.Leu1683Ter)
c.4646T>A (p.Leu1549Ter)
c.3884T>A (p.Leu1295Ter)
c.2780T>A (p.Leu927Ter)
21g.46402335T>CCA410581649PCNTc.5000T>C (p.Leu1667Ser)
c.*4210T>C (n.*4210T>C)
c.4967T>C (p.Leu1656Ser)
n.5236T>C
c.4613T>C (p.Leu1538Ser)
c.5078T>C (p.Leu1693Ser)
c.5048T>C (p.Leu1683Ser)
c.4646T>C (p.Leu1549Ser)
c.3884T>C (p.Leu1295Ser)
c.2780T>C (p.Leu927Ser)
 gnomAD v4
21g.46402335T>GCA410581651PCNTc.5000T>G (p.Leu1667Trp)
c.*4210T>G (n.*4210T>G)
c.4967T>G (p.Leu1656Trp)
n.5236T>G
c.4613T>G (p.Leu1538Trp)
c.5078T>G (p.Leu1693Trp)
c.5048T>G (p.Leu1683Trp)
c.4646T>G (p.Leu1549Trp)
c.3884T>G (p.Leu1295Trp)
c.2780T>G (p.Leu927Trp)
21g.46402335_46402336delinsTGCA2392660220PCNTc.5000_5001delinsTG (p.Leu1667=)
c.*4210_*4211delinsTG (n.*4210_*4211delinsTG)
c.4967_4968delinsTG (p.Leu1656=)
n.5236_5237delinsTG
c.4613_4614delinsTG (p.Leu1538=)
c.5078_5079delinsTG (p.Leu1693=)
c.5048_5049delinsTG (p.Leu1683=)
c.4646_4647delinsTG (p.Leu1549=)
c.3884_3885delinsTG (p.Leu1295=)
c.2780_2781delinsTG (p.Leu927=)
21g.46402336G>ACA512745740PCNTc.5001G>A (p.Leu1667=)
c.*4211G>A (n.*4211G>A)
c.4968G>A (p.Leu1656=)
n.5237G>A
c.4614G>A (p.Leu1538=)
c.5079G>A (p.Leu1693=)
c.5049G>A (p.Leu1683=)
c.4647G>A (p.Leu1549=)
c.3885G>A (p.Leu1295=)
c.2781G>A (p.Leu927=)
 gnomAD v4
21g.46402336G>CCA410581653PCNTc.5001G>C (p.Leu1667Phe)
c.*4211G>C (n.*4211G>C)
c.4968G>C (p.Leu1656Phe)
n.5237G>C
c.4614G>C (p.Leu1538Phe)
c.5079G>C (p.Leu1693Phe)
c.5049G>C (p.Leu1683Phe)
c.4647G>C (p.Leu1549Phe)
c.3885G>C (p.Leu1295Phe)
c.2781G>C (p.Leu927Phe)
21g.46402336G>TCA410581654PCNTc.5001G>T (p.Leu1667Phe)
c.*4211G>T (n.*4211G>T)
c.4968G>T (p.Leu1656Phe)
n.5237G>T
c.4614G>T (p.Leu1538Phe)
c.5079G>T (p.Leu1693Phe)
c.5049G>T (p.Leu1683Phe)
c.4647G>T (p.Leu1549Phe)
c.3885G>T (p.Leu1295Phe)
c.2781G>T (p.Leu927Phe)
21g.46402337delCA10079854PCNTc.5002del (p.Asp1668ThrfsTer2)
c.*4212del (n.*4212del)
c.4969del (p.Asp1657ThrfsTer2)
n.5238del
c.4615del (p.Asp1539ThrfsTer2)
c.5080del (p.Asp1694ThrfsTer2)
c.5050del (p.Asp1684ThrfsTer2)
c.4648del (p.Asp1550ThrfsTer2)
c.3886del (p.Asp1296ThrfsTer2)
c.2782del (p.Asp928ThrfsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402337G>ACA410581656PCNTc.5002G>A (p.Asp1668Asn)
c.*4212G>A (n.*4212G>A)
c.4969G>A (p.Asp1657Asn)
n.5238G>A
c.4615G>A (p.Asp1539Asn)
c.5080G>A (p.Asp1694Asn)
c.5050G>A (p.Asp1684Asn)
c.4648G>A (p.Asp1550Asn)
c.3886G>A (p.Asp1296Asn)
c.2782G>A (p.Asp928Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46402337G>CCA410581657PCNTc.5002G>C (p.Asp1668His)
c.*4212G>C (n.*4212G>C)
c.4969G>C (p.Asp1657His)
n.5238G>C
c.4615G>C (p.Asp1539His)
c.5080G>C (p.Asp1694His)
c.5050G>C (p.Asp1684His)
c.4648G>C (p.Asp1550His)
c.3886G>C (p.Asp1296His)
c.2782G>C (p.Asp928His)
21g.46402337G=CA2392660221PCNTc.5002G= (p.Asp1668=)
c.*4212G= (n.*4212G=)
c.4969G= (p.Asp1657=)
n.5238G=
c.4615G= (p.Asp1539=)
c.5080G= (p.Asp1694=)
c.5050G= (p.Asp1684=)
c.4648G= (p.Asp1550=)
c.3886G= (p.Asp1296=)
c.2782G= (p.Asp928=)
21g.46402337G>TCA410581659PCNTc.5002G>T (p.Asp1668Tyr)
c.*4212G>T (n.*4212G>T)
c.4969G>T (p.Asp1657Tyr)
n.5238G>T
c.4615G>T (p.Asp1539Tyr)
c.5080G>T (p.Asp1694Tyr)
c.5050G>T (p.Asp1684Tyr)
c.4648G>T (p.Asp1550Tyr)
c.3886G>T (p.Asp1296Tyr)
c.2782G>T (p.Asp928Tyr)
21g.46402338A>CCA410581660PCNTc.5003A>C (p.Asp1668Ala)
c.*4213A>C (n.*4213A>C)
c.4970A>C (p.Asp1657Ala)
n.5239A>C
c.4616A>C (p.Asp1539Ala)
c.5081A>C (p.Asp1694Ala)
c.5051A>C (p.Asp1684Ala)
c.4649A>C (p.Asp1550Ala)
c.3887A>C (p.Asp1296Ala)
c.2783A>C (p.Asp928Ala)
21g.46402338A>GCA410581662PCNTc.5003A>G (p.Asp1668Gly)
c.*4213A>G (n.*4213A>G)
c.4970A>G (p.Asp1657Gly)
n.5239A>G
c.4616A>G (p.Asp1539Gly)
c.5081A>G (p.Asp1694Gly)
c.5051A>G (p.Asp1684Gly)
c.4649A>G (p.Asp1550Gly)
c.3887A>G (p.Asp1296Gly)
c.2783A>G (p.Asp928Gly)
 gnomAD v4 COSMIC
21g.46402338A>TCA410581663PCNTc.5003A>T (p.Asp1668Val)
c.*4213A>T (n.*4213A>T)
c.4970A>T (p.Asp1657Val)
n.5239A>T
c.4616A>T (p.Asp1539Val)
c.5081A>T (p.Asp1694Val)
c.5051A>T (p.Asp1684Val)
c.4649A>T (p.Asp1550Val)
c.3887A>T (p.Asp1296Val)
c.2783A>T (p.Asp928Val)
21g.46402339C>ACA410581664PCNTc.5004C>A (p.Asp1668Glu)
c.*4214C>A (n.*4214C>A)
c.4971C>A (p.Asp1657Glu)
n.5240C>A
c.4617C>A (p.Asp1539Glu)
c.5082C>A (p.Asp1694Glu)
c.5052C>A (p.Asp1684Glu)
c.4650C>A (p.Asp1550Glu)
c.3888C>A (p.Asp1296Glu)
c.2784C>A (p.Asp928Glu)
 gnomAD v4
21g.46402339C>GCA410581666PCNTc.5004C>G (p.Asp1668Glu)
c.*4214C>G (n.*4214C>G)
c.4971C>G (p.Asp1657Glu)
n.5240C>G
c.4617C>G (p.Asp1539Glu)
c.5082C>G (p.Asp1694Glu)
c.5052C>G (p.Asp1684Glu)
c.4650C>G (p.Asp1550Glu)
c.3888C>G (p.Asp1296Glu)
c.2784C>G (p.Asp928Glu)
21g.46402339C>TCA512745754PCNTc.5004C>T (p.Asp1668=)
c.*4214C>T (n.*4214C>T)
c.4971C>T (p.Asp1657=)
n.5240C>T
c.4617C>T (p.Asp1539=)
c.5082C>T (p.Asp1694=)
c.5052C>T (p.Asp1684=)
c.4650C>T (p.Asp1550=)
c.3888C>T (p.Asp1296=)
c.2784C>T (p.Asp928=)
21g.46402340T>ACA410581669PCNTc.5005T>A (p.Leu1669Ile)
c.*4215T>A (n.*4215T>A)
c.4972T>A (p.Leu1658Ile)
n.5241T>A
c.4618T>A (p.Leu1540Ile)
c.5083T>A (p.Leu1695Ile)
c.5053T>A (p.Leu1685Ile)
c.4651T>A (p.Leu1551Ile)
c.3889T>A (p.Leu1297Ile)
c.2785T>A (p.Leu929Ile)
21g.46402340T>CCA512745762PCNTc.5005T>C (p.Leu1669=)
c.*4215T>C (n.*4215T>C)
c.4972T>C (p.Leu1658=)
n.5241T>C
c.4618T>C (p.Leu1540=)
c.5083T>C (p.Leu1695=)
c.5053T>C (p.Leu1685=)
c.4651T>C (p.Leu1551=)
c.3889T>C (p.Leu1297=)
c.2785T>C (p.Leu929=)
 gnomAD v4
21g.46402340T>GCA410581668PCNTc.5005T>G (p.Leu1669Val)
c.*4215T>G (n.*4215T>G)
c.4972T>G (p.Leu1658Val)
n.5241T>G
c.4618T>G (p.Leu1540Val)
c.5083T>G (p.Leu1695Val)
c.5053T>G (p.Leu1685Val)
c.4651T>G (p.Leu1551Val)
c.3889T>G (p.Leu1297Val)
c.2785T>G (p.Leu929Val)
21g.46402341dupCA2655023577PCNTc.5006dup (p.Leu1669PhefsTer11)
c.*4216dup (n.*4216dup)
c.4973dup (p.Leu1658PhefsTer11)
n.5242dup
c.4619dup (p.Leu1540PhefsTer11)
c.5084dup (p.Leu1695PhefsTer11)
c.5054dup (p.Leu1685PhefsTer11)
c.4652dup (p.Leu1551PhefsTer11)
c.3890dup (p.Leu1297PhefsTer11)
c.2786dup (p.Leu929PhefsTer11)
 gnomAD v4
21g.46402341delCA2655023578PCNTc.5006del (p.Leu1669Ter)
c.*4216del (n.*4216del)
c.4973del (p.Leu1658Ter)
n.5242del
c.4619del (p.Leu1540Ter)
c.5084del (p.Leu1695Ter)
c.5054del (p.Leu1685Ter)
c.4652del (p.Leu1551Ter)
c.3890del (p.Leu1297Ter)
c.2786del (p.Leu929Ter)
 gnomAD v4
21g.46402341T>ACA410581671PCNTc.5006T>A (p.Leu1669Ter)
c.*4216T>A (n.*4216T>A)
c.4973T>A (p.Leu1658Ter)
n.5242T>A
c.4619T>A (p.Leu1540Ter)
c.5084T>A (p.Leu1695Ter)
c.5054T>A (p.Leu1685Ter)
c.4652T>A (p.Leu1551Ter)
c.3890T>A (p.Leu1297Ter)
c.2786T>A (p.Leu929Ter)
21g.46402341T>CCA410581672PCNTc.5006T>C (p.Leu1669Ser)
c.*4216T>C (n.*4216T>C)
c.4973T>C (p.Leu1658Ser)
n.5242T>C
c.4619T>C (p.Leu1540Ser)
c.5084T>C (p.Leu1695Ser)
c.5054T>C (p.Leu1685Ser)
c.4652T>C (p.Leu1551Ser)
c.3890T>C (p.Leu1297Ser)
c.2786T>C (p.Leu929Ser)
 gnomAD v4
21g.46402341T>GCA410581673PCNTc.5006T>G (p.Leu1669Ter)
c.*4216T>G (n.*4216T>G)
c.4973T>G (p.Leu1658Ter)
n.5242T>G
c.4619T>G (p.Leu1540Ter)
c.5084T>G (p.Leu1695Ter)
c.5054T>G (p.Leu1685Ter)
c.4652T>G (p.Leu1551Ter)
c.3890T>G (p.Leu1297Ter)
c.2786T>G (p.Leu929Ter)
21g.46402341_46402346delinsTAAAAGCA2392660222PCNTc.5006_5011delinsTAAAAG (p.Leu1669=)
c.*4216_*4221delinsTAAAAG (n.*4216_*4221delinsTAAAAG)
c.4973_4978delinsTAAAAG (p.Leu1658=)
n.5242_5247delinsTAAAAG
c.4619_4624delinsTAAAAG (p.Leu1540=)
c.5084_5089delinsTAAAAG (p.Leu1695=)
c.5054_5059delinsTAAAAG (p.Leu1685=)
c.4652_4657delinsTAAAAG (p.Leu1551=)
c.3890_3895delinsTAAAAG (p.Leu1297=)
c.2786_2791delinsTAAAAG (p.Leu929=)
21g.46402342A>CCA410581675PCNTc.5007A>C (p.Leu1669Phe)
c.*4217A>C (n.*4217A>C)
c.4974A>C (p.Leu1658Phe)
n.5243A>C
c.4620A>C (p.Leu1540Phe)
c.5085A>C (p.Leu1695Phe)
c.5055A>C (p.Leu1685Phe)
c.4653A>C (p.Leu1551Phe)
c.3891A>C (p.Leu1297Phe)
c.2787A>C (p.Leu929Phe)
 gnomAD v4
21g.46402342A>GCA512745769PCNTc.5007A>G (p.Leu1669=)
c.*4217A>G (n.*4217A>G)
c.4974A>G (p.Leu1658=)
n.5243A>G
c.4620A>G (p.Leu1540=)
c.5085A>G (p.Leu1695=)
c.5055A>G (p.Leu1685=)
c.4653A>G (p.Leu1551=)
c.3891A>G (p.Leu1297=)
c.2787A>G (p.Leu929=)
 dbSNP gnomAD v4
21g.46402342A>TCA410581676PCNTc.5007A>T (p.Leu1669Phe)
c.*4217A>T (n.*4217A>T)
c.4974A>T (p.Leu1658Phe)
n.5243A>T
c.4620A>T (p.Leu1540Phe)
c.5085A>T (p.Leu1695Phe)
c.5055A>T (p.Leu1685Phe)
c.4653A>T (p.Leu1551Phe)
c.3891A>T (p.Leu1297Phe)
c.2787A>T (p.Leu929Phe)
21g.46402342_46402345delCA2499226004PCNTc.5007_5010del (p.Lys1670AsnfsTer3)
c.*4217_*4220del (n.*4217_*4220del)
c.4974_4977del (p.Lys1659AsnfsTer3)
n.5243_5246del
c.4620_4623del (p.Lys1541AsnfsTer3)
c.5085_5088del (p.Lys1696AsnfsTer3)
c.5055_5058del (p.Lys1686AsnfsTer3)
c.4653_4656del (p.Lys1552AsnfsTer3)
c.3891_3894del (p.Lys1298AsnfsTer3)
c.2787_2790del (p.Lys930AsnfsTer3)
 ClinVar dbSNP gnomAD v4
21g.46402344_46402348delCA10079855PCNTc.5009_5013del (p.Lys1670ThrfsTer8)
c.*4219_*4223del (n.*4219_*4223del)
c.4976_4980del (p.Lys1659ThrfsTer8)
n.5245_5249del
c.4622_4626del (p.Lys1541ThrfsTer8)
c.5087_5091del (p.Lys1696ThrfsTer8)
c.5057_5061del (p.Lys1686ThrfsTer8)
c.4655_4659del (p.Lys1552ThrfsTer8)
c.3893_3897del (p.Lys1298ThrfsTer8)
c.2789_2793del (p.Lys930ThrfsTer8)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402343A=CA2392660223PCNTc.5008A= (p.Lys1670=)
c.*4218A= (n.*4218A=)
c.4975A= (p.Lys1659=)
n.5244A=
c.4621A= (p.Lys1541=)
c.5086A= (p.Lys1696=)
c.5056A= (p.Lys1686=)
c.4654A= (p.Lys1552=)
c.3892A= (p.Lys1298=)
c.2788A= (p.Lys930=)
21g.46402343A>CCA410581680PCNTc.5008A>C (p.Lys1670Gln)
c.*4218A>C (n.*4218A>C)
c.4975A>C (p.Lys1659Gln)
n.5244A>C
c.4621A>C (p.Lys1541Gln)
c.5086A>C (p.Lys1696Gln)
c.5056A>C (p.Lys1686Gln)
c.4654A>C (p.Lys1552Gln)
c.3892A>C (p.Lys1298Gln)
c.2788A>C (p.Lys930Gln)
21g.46402343A>GCA10079856PCNTc.5008A>G (p.Lys1670Glu)
c.*4218A>G (n.*4218A>G)
c.4975A>G (p.Lys1659Glu)
n.5244A>G
c.4621A>G (p.Lys1541Glu)
c.5086A>G (p.Lys1696Glu)
c.5056A>G (p.Lys1686Glu)
c.4654A>G (p.Lys1552Glu)
c.3892A>G (p.Lys1298Glu)
c.2788A>G (p.Lys930Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402343A>TCA410581678PCNTc.5008A>T (p.Lys1670Ter)
c.*4218A>T (n.*4218A>T)
c.4975A>T (p.Lys1659Ter)
n.5244A>T
c.4621A>T (p.Lys1541Ter)
c.5086A>T (p.Lys1696Ter)
c.5056A>T (p.Lys1686Ter)
c.4654A>T (p.Lys1552Ter)
c.3892A>T (p.Lys1298Ter)
c.2788A>T (p.Lys930Ter)
21g.46402344A=CA2392660224PCNTc.5009A= (p.Lys1670=)
c.*4219A= (n.*4219A=)
c.4976A= (p.Lys1659=)
n.5245A=
c.4622A= (p.Lys1541=)
c.5087A= (p.Lys1696=)
c.5057A= (p.Lys1686=)
c.4655A= (p.Lys1552=)
c.3893A= (p.Lys1298=)
c.2789A= (p.Lys930=)
21g.46402344A>CCA410581682PCNTc.5009A>C (p.Lys1670Thr)
c.*4219A>C (n.*4219A>C)
c.4976A>C (p.Lys1659Thr)
n.5245A>C
c.4622A>C (p.Lys1541Thr)
c.5087A>C (p.Lys1696Thr)
c.5057A>C (p.Lys1686Thr)
c.4655A>C (p.Lys1552Thr)
c.3893A>C (p.Lys1298Thr)
c.2789A>C (p.Lys930Thr)
21g.46402344A>GCA410581683PCNTc.5009A>G (p.Lys1670Arg)
c.*4219A>G (n.*4219A>G)
c.4976A>G (p.Lys1659Arg)
n.5245A>G
c.4622A>G (p.Lys1541Arg)
c.5087A>G (p.Lys1696Arg)
c.5057A>G (p.Lys1686Arg)
c.4655A>G (p.Lys1552Arg)
c.3893A>G (p.Lys1298Arg)
c.2789A>G (p.Lys930Arg)
 dbSNP gnomAD v3 gnomAD v4
21g.46402344A>TCA410581684PCNTc.5009A>T (p.Lys1670Ile)
c.*4219A>T (n.*4219A>T)
c.4976A>T (p.Lys1659Ile)
n.5245A>T
c.4622A>T (p.Lys1541Ile)
c.5087A>T (p.Lys1696Ile)
c.5057A>T (p.Lys1686Ile)
c.4655A>T (p.Lys1552Ile)
c.3893A>T (p.Lys1298Ile)
c.2789A>T (p.Lys930Ile)
21g.46402345A>CCA410581686PCNTc.5010A>C (p.Lys1670Asn)
c.*4220A>C (n.*4220A>C)
c.4977A>C (p.Lys1659Asn)
n.5246A>C
c.4623A>C (p.Lys1541Asn)
c.5088A>C (p.Lys1696Asn)
c.5058A>C (p.Lys1686Asn)
c.4656A>C (p.Lys1552Asn)
c.3894A>C (p.Lys1298Asn)
c.2790A>C (p.Lys930Asn)
21g.46402345A>GCA512745782PCNTc.5010A>G (p.Lys1670=)
c.*4220A>G (n.*4220A>G)
c.4977A>G (p.Lys1659=)
n.5246A>G
c.4623A>G (p.Lys1541=)
c.5088A>G (p.Lys1696=)
c.5058A>G (p.Lys1686=)
c.4656A>G (p.Lys1552=)
c.3894A>G (p.Lys1298=)
c.2790A>G (p.Lys930=)
21g.46402345A>TCA410581687PCNTc.5010A>T (p.Lys1670Asn)
c.*4220A>T (n.*4220A>T)
c.4977A>T (p.Lys1659Asn)
n.5246A>T
c.4623A>T (p.Lys1541Asn)
c.5088A>T (p.Lys1696Asn)
c.5058A>T (p.Lys1686Asn)
c.4656A>T (p.Lys1552Asn)
c.3894A>T (p.Lys1298Asn)
c.2790A>T (p.Lys930Asn)
21g.46402346G>ACA410581688PCNTc.5011G>A (p.Glu1671Lys)
c.*4221G>A (n.*4221G>A)
c.4978G>A (p.Glu1660Lys)
n.5247G>A
c.4624G>A (p.Glu1542Lys)
c.5089G>A (p.Glu1697Lys)
c.5059G>A (p.Glu1687Lys)
c.4657G>A (p.Glu1553Lys)
c.3895G>A (p.Glu1299Lys)
c.2791G>A (p.Glu931Lys)
 gnomAD v4
21g.46402346G>CCA410581691PCNTc.5011G>C (p.Glu1671Gln)
c.*4221G>C (n.*4221G>C)
c.4978G>C (p.Glu1660Gln)
n.5247G>C
c.4624G>C (p.Glu1542Gln)
c.5089G>C (p.Glu1697Gln)
c.5059G>C (p.Glu1687Gln)
c.4657G>C (p.Glu1553Gln)
c.3895G>C (p.Glu1299Gln)
c.2791G>C (p.Glu931Gln)
21g.46402346G>TCA410581690PCNTc.5011G>T (p.Glu1671Ter)
c.*4221G>T (n.*4221G>T)
c.4978G>T (p.Glu1660Ter)
n.5247G>T
c.4624G>T (p.Glu1542Ter)
c.5089G>T (p.Glu1697Ter)
c.5059G>T (p.Glu1687Ter)
c.4657G>T (p.Glu1553Ter)
c.3895G>T (p.Glu1299Ter)
c.2791G>T (p.Glu931Ter)
21g.46402347A>CCA410581693PCNTc.5012A>C (p.Glu1671Ala)
c.*4222A>C (n.*4222A>C)
c.4979A>C (p.Glu1660Ala)
n.5248A>C
c.4625A>C (p.Glu1542Ala)
c.5090A>C (p.Glu1697Ala)
c.5060A>C (p.Glu1687Ala)
c.4658A>C (p.Glu1553Ala)
c.3896A>C (p.Glu1299Ala)
c.2792A>C (p.Glu931Ala)
21g.46402347A>GCA410581695PCNTc.5012A>G (p.Glu1671Gly)
c.*4222A>G (n.*4222A>G)
c.4979A>G (p.Glu1660Gly)
n.5248A>G
c.4625A>G (p.Glu1542Gly)
c.5090A>G (p.Glu1697Gly)
c.5060A>G (p.Glu1687Gly)
c.4658A>G (p.Glu1553Gly)
c.3896A>G (p.Glu1299Gly)
c.2792A>G (p.Glu931Gly)
21g.46402347A>TCA410581696PCNTc.5012A>T (p.Glu1671Val)
c.*4222A>T (n.*4222A>T)
c.4979A>T (p.Glu1660Val)
n.5248A>T
c.4625A>T (p.Glu1542Val)
c.5090A>T (p.Glu1697Val)
c.5060A>T (p.Glu1687Val)
c.4658A>T (p.Glu1553Val)
c.3896A>T (p.Glu1299Val)
c.2792A>T (p.Glu931Val)
21g.46402348A=CA2392660225PCNTc.5013A= (p.Glu1671=)
c.*4223A= (n.*4223A=)
c.4980A= (p.Glu1660=)
n.5249A=
c.4626A= (p.Glu1542=)
c.5091A= (p.Glu1697=)
c.5061A= (p.Glu1687=)
c.4659A= (p.Glu1553=)
c.3897A= (p.Glu1299=)
c.2793A= (p.Glu931=)
21g.46402348A>CCA410581698PCNTc.5013A>C (p.Glu1671Asp)
c.*4223A>C (n.*4223A>C)
c.4980A>C (p.Glu1660Asp)
n.5249A>C
c.4626A>C (p.Glu1542Asp)
c.5091A>C (p.Glu1697Asp)
c.5061A>C (p.Glu1687Asp)
c.4659A>C (p.Glu1553Asp)
c.3897A>C (p.Glu1299Asp)
c.2793A>C (p.Glu931Asp)
21g.46402348A>GCA10079857PCNTc.5013A>G (p.Glu1671=)
c.*4223A>G (n.*4223A>G)
c.4980A>G (p.Glu1660=)
n.5249A>G
c.4626A>G (p.Glu1542=)
c.5091A>G (p.Glu1697=)
c.5061A>G (p.Glu1687=)
c.4659A>G (p.Glu1553=)
c.3897A>G (p.Glu1299=)
c.2793A>G (p.Glu931=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46402348A>TCA410581700PCNTc.5013A>T (p.Glu1671Asp)
c.*4223A>T (n.*4223A>T)
c.4980A>T (p.Glu1660Asp)
n.5249A>T
c.4626A>T (p.Glu1542Asp)
c.5091A>T (p.Glu1697Asp)
c.5061A>T (p.Glu1687Asp)
c.4659A>T (p.Glu1553Asp)
c.3897A>T (p.Glu1299Asp)
c.2793A>T (p.Glu931Asp)
21g.46402349C>ACA410581701PCNTc.5014C>A (p.Gln1672Lys)
c.*4224C>A (n.*4224C>A)
c.4981C>A (p.Gln1661Lys)
n.5250C>A
c.4627C>A (p.Gln1543Lys)
c.5092C>A (p.Gln1698Lys)
c.5062C>A (p.Gln1688Lys)
c.4660C>A (p.Gln1554Lys)
c.3898C>A (p.Gln1300Lys)
c.2794C>A (p.Gln932Lys)
 gnomAD v4
21g.46402349C=CA2392660226PCNTc.5014C= (p.Gln1672=)
c.*4224C= (n.*4224C=)
c.4981C= (p.Gln1661=)
n.5250C=
c.4627C= (p.Gln1543=)
c.5092C= (p.Gln1698=)
c.5062C= (p.Gln1688=)
c.4660C= (p.Gln1554=)
c.3898C= (p.Gln1300=)
c.2794C= (p.Gln932=)
21g.46402349C>GCA10079858PCNTc.5014C>G (p.Gln1672Glu)
c.*4224C>G (n.*4224C>G)
c.4981C>G (p.Gln1661Glu)
n.5250C>G
c.4627C>G (p.Gln1543Glu)
c.5092C>G (p.Gln1698Glu)
c.5062C>G (p.Gln1688Glu)
c.4660C>G (p.Gln1554Glu)
c.3898C>G (p.Gln1300Glu)
c.2794C>G (p.Gln932Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402349C>TCA410581702PCNTc.5014C>T (p.Gln1672Ter)
c.*4224C>T (n.*4224C>T)
c.4981C>T (p.Gln1661Ter)
n.5250C>T
c.4627C>T (p.Gln1543Ter)
c.5092C>T (p.Gln1698Ter)
c.5062C>T (p.Gln1688Ter)
c.4660C>T (p.Gln1554Ter)
c.3898C>T (p.Gln1300Ter)
c.2794C>T (p.Gln932Ter)
21g.46402350A>CCA410581704PCNTc.5015A>C (p.Gln1672Pro)
c.*4225A>C (n.*4225A>C)
c.4982A>C (p.Gln1661Pro)
n.5251A>C
c.4628A>C (p.Gln1543Pro)
c.5093A>C (p.Gln1698Pro)
c.5063A>C (p.Gln1688Pro)
c.4661A>C (p.Gln1554Pro)
c.3899A>C (p.Gln1300Pro)
c.2795A>C (p.Gln932Pro)
21g.46402350A>GCA410581705PCNTc.5015A>G (p.Gln1672Arg)
c.*4225A>G (n.*4225A>G)
c.4982A>G (p.Gln1661Arg)
n.5251A>G
c.4628A>G (p.Gln1543Arg)
c.5093A>G (p.Gln1698Arg)
c.5063A>G (p.Gln1688Arg)
c.4661A>G (p.Gln1554Arg)
c.3899A>G (p.Gln1300Arg)
c.2795A>G (p.Gln932Arg)
21g.46402350A>TCA410581707PCNTc.5015A>T (p.Gln1672Leu)
c.*4225A>T (n.*4225A>T)
c.4982A>T (p.Gln1661Leu)
n.5251A>T
c.4628A>T (p.Gln1543Leu)
c.5093A>T (p.Gln1698Leu)
c.5063A>T (p.Gln1688Leu)
c.4661A>T (p.Gln1554Leu)
c.3899A>T (p.Gln1300Leu)
c.2795A>T (p.Gln932Leu)
21g.46402351G>ACA512745810PCNTc.5016G>A (p.Gln1672=)
c.*4226G>A (n.*4226G>A)
c.4983G>A (p.Gln1661=)
n.5252G>A
c.4629G>A (p.Gln1543=)
c.5094G>A (p.Gln1698=)
c.5064G>A (p.Gln1688=)
c.4662G>A (p.Gln1554=)
c.3900G>A (p.Gln1300=)
c.2796G>A (p.Gln932=)
 dbSNP
21g.46402351G>CCA410581708PCNTc.5016G>C (p.Gln1672His)
c.*4226G>C (n.*4226G>C)
c.4983G>C (p.Gln1661His)
n.5252G>C
c.4629G>C (p.Gln1543His)
c.5094G>C (p.Gln1698His)
c.5064G>C (p.Gln1688His)
c.4662G>C (p.Gln1554His)
c.3900G>C (p.Gln1300His)
c.2796G>C (p.Gln932His)
21g.46402351G>TCA410581710PCNTc.5016G>T (p.Gln1672His)
c.*4226G>T (n.*4226G>T)
c.4983G>T (p.Gln1661His)
n.5252G>T
c.4629G>T (p.Gln1543His)
c.5094G>T (p.Gln1698His)
c.5064G>T (p.Gln1688His)
c.4662G>T (p.Gln1554His)
c.3900G>T (p.Gln1300His)
c.2796G>T (p.Gln932His)
21g.46402351_46402352delCA2655023579PCNTc.5016_5017del (p.Gln1672HisfsTer7)
c.*4226_*4227del (n.*4226_*4227del)
c.4983_4984del (p.Gln1661HisfsTer7)
n.5252_5253del
c.4629_4630del (p.Gln1543HisfsTer7)
c.5094_5095del (p.Gln1698HisfsTer7)
c.5064_5065del (p.Gln1688HisfsTer7)
c.4662_4663del (p.Gln1554HisfsTer7)
c.3900_3901del (p.Gln1300HisfsTer7)
c.2796_2797del (p.Gln932HisfsTer7)
 gnomAD v4
21g.46402352C>ACA410581711PCNTc.5017C>A (p.Leu1673Ile)
c.*4227C>A (n.*4227C>A)
c.4984C>A (p.Leu1662Ile)
n.5253C>A
c.4630C>A (p.Leu1544Ile)
c.5095C>A (p.Leu1699Ile)
c.5065C>A (p.Leu1689Ile)
c.4663C>A (p.Leu1555Ile)
c.3901C>A (p.Leu1301Ile)
c.2797C>A (p.Leu933Ile)
21g.46402352C=CA2392660227PCNTc.5017C= (p.Leu1673=)
c.*4227C= (n.*4227C=)
c.4984C= (p.Leu1662=)
n.5253C=
c.4630C= (p.Leu1544=)
c.5095C= (p.Leu1699=)
c.5065C= (p.Leu1689=)
c.4663C= (p.Leu1555=)
c.3901C= (p.Leu1301=)
c.2797C= (p.Leu933=)
21g.46402352C>GCA410581712PCNTc.5017C>G (p.Leu1673Val)
c.*4227C>G (n.*4227C>G)
c.4984C>G (p.Leu1662Val)
n.5253C>G
c.4630C>G (p.Leu1544Val)
c.5095C>G (p.Leu1699Val)
c.5065C>G (p.Leu1689Val)
c.4663C>G (p.Leu1555Val)
c.3901C>G (p.Leu1301Val)
c.2797C>G (p.Leu933Val)
 dbSNP gnomAD v4
21g.46402352C>TCA512745815PCNTc.5017C>T (p.Leu1673=)
c.*4227C>T (n.*4227C>T)
c.4984C>T (p.Leu1662=)
n.5253C>T
c.4630C>T (p.Leu1544=)
c.5095C>T (p.Leu1699=)
c.5065C>T (p.Leu1689=)
c.4663C>T (p.Leu1555=)
c.3901C>T (p.Leu1301=)
c.2797C>T (p.Leu933=)
21g.46402353T>ACA410581714PCNTc.5018T>A (p.Leu1673Gln)
c.*4228T>A (n.*4228T>A)
c.4985T>A (p.Leu1662Gln)
n.5254T>A
c.4631T>A (p.Leu1544Gln)
c.5096T>A (p.Leu1699Gln)
c.5066T>A (p.Leu1689Gln)
c.4664T>A (p.Leu1555Gln)
c.3902T>A (p.Leu1301Gln)
c.2798T>A (p.Leu933Gln)
21g.46402353T>CCA410581716PCNTc.5018T>C (p.Leu1673Pro)
c.*4228T>C (n.*4228T>C)
c.4985T>C (p.Leu1662Pro)
n.5254T>C
c.4631T>C (p.Leu1544Pro)
c.5096T>C (p.Leu1699Pro)
c.5066T>C (p.Leu1689Pro)
c.4664T>C (p.Leu1555Pro)
c.3902T>C (p.Leu1301Pro)
c.2798T>C (p.Leu933Pro)
 dbSNP gnomAD v3 gnomAD v4
21g.46402353T>GCA410581717PCNTc.5018T>G (p.Leu1673Arg)
c.*4228T>G (n.*4228T>G)
c.4985T>G (p.Leu1662Arg)
n.5254T>G
c.4631T>G (p.Leu1544Arg)
c.5096T>G (p.Leu1699Arg)
c.5066T>G (p.Leu1689Arg)
c.4664T>G (p.Leu1555Arg)
c.3902T>G (p.Leu1301Arg)
c.2798T>G (p.Leu933Arg)
21g.46402353T=CA2392660228PCNTc.5018T= (p.Leu1673=)
c.*4228T= (n.*4228T=)
c.4985T= (p.Leu1662=)
n.5254T=
c.4631T= (p.Leu1544=)
c.5096T= (p.Leu1699=)
c.5066T= (p.Leu1689=)
c.4664T= (p.Leu1555=)
c.3902T= (p.Leu1301=)
c.2798T= (p.Leu933=)
21g.46402354A>CCA512745825PCNTc.5019A>C (p.Leu1673=)
c.*4229A>C (n.*4229A>C)
c.4986A>C (p.Leu1662=)
n.5255A>C
c.4632A>C (p.Leu1544=)
c.5097A>C (p.Leu1699=)
c.5067A>C (p.Leu1689=)
c.4665A>C (p.Leu1555=)
c.3903A>C (p.Leu1301=)
c.2799A>C (p.Leu933=)
21g.46402354A>GCA512745827PCNTc.5019A>G (p.Leu1673=)
c.*4229A>G (n.*4229A>G)
c.4986A>G (p.Leu1662=)
n.5255A>G
c.4632A>G (p.Leu1544=)
c.5097A>G (p.Leu1699=)
c.5067A>G (p.Leu1689=)
c.4665A>G (p.Leu1555=)
c.3903A>G (p.Leu1301=)
c.2799A>G (p.Leu933=)
 ClinVar gnomAD v4
21g.46402354A>TCA512745830PCNTc.5019A>T (p.Leu1673=)
c.*4229A>T (n.*4229A>T)
c.4986A>T (p.Leu1662=)
n.5255A>T
c.4632A>T (p.Leu1544=)
c.5097A>T (p.Leu1699=)
c.5067A>T (p.Leu1689=)
c.4665A>T (p.Leu1555=)
c.3903A>T (p.Leu1301=)
c.2799A>T (p.Leu933=)
21g.46402355G>ACA410581719PCNTc.5020G>A (p.Glu1674Lys)
c.*4230G>A (n.*4230G>A)
c.4987G>A (p.Glu1663Lys)
n.5256G>A
c.4633G>A (p.Glu1545Lys)
c.5098G>A (p.Glu1700Lys)
c.5068G>A (p.Glu1690Lys)
c.4666G>A (p.Glu1556Lys)
c.3904G>A (p.Glu1302Lys)
c.2800G>A (p.Glu934Lys)
21g.46402355G>CCA410581720PCNTc.5020G>C (p.Glu1674Gln)
c.*4230G>C (n.*4230G>C)
c.4987G>C (p.Glu1663Gln)
n.5256G>C
c.4633G>C (p.Glu1545Gln)
c.5098G>C (p.Glu1700Gln)
c.5068G>C (p.Glu1690Gln)
c.4666G>C (p.Glu1556Gln)
c.3904G>C (p.Glu1302Gln)
c.2800G>C (p.Glu934Gln)
21g.46402355G>TCA410581721PCNTc.5020G>T (p.Glu1674Ter)
c.*4230G>T (n.*4230G>T)
c.4987G>T (p.Glu1663Ter)
n.5256G>T
c.4633G>T (p.Glu1545Ter)
c.5098G>T (p.Glu1700Ter)
c.5068G>T (p.Glu1690Ter)
c.4666G>T (p.Glu1556Ter)
c.3904G>T (p.Glu1302Ter)
c.2800G>T (p.Glu934Ter)
21g.46402356A>CCA410581723PCNTc.5021A>C (p.Glu1674Ala)
c.*4231A>C (n.*4231A>C)
c.4988A>C (p.Glu1663Ala)
n.5257A>C
c.4634A>C (p.Glu1545Ala)
c.5099A>C (p.Glu1700Ala)
c.5069A>C (p.Glu1690Ala)
c.4667A>C (p.Glu1556Ala)
c.3905A>C (p.Glu1302Ala)
c.2801A>C (p.Glu934Ala)
21g.46402356A>GCA410581724PCNTc.5021A>G (p.Glu1674Gly)
c.*4231A>G (n.*4231A>G)
c.4988A>G (p.Glu1663Gly)
n.5257A>G
c.4634A>G (p.Glu1545Gly)
c.5099A>G (p.Glu1700Gly)
c.5069A>G (p.Glu1690Gly)
c.4667A>G (p.Glu1556Gly)
c.3905A>G (p.Glu1302Gly)
c.2801A>G (p.Glu934Gly)
21g.46402356A>TCA410581725PCNTc.5021A>T (p.Glu1674Val)
c.*4231A>T (n.*4231A>T)
c.4988A>T (p.Glu1663Val)
n.5257A>T
c.4634A>T (p.Glu1545Val)
c.5099A>T (p.Glu1700Val)
c.5069A>T (p.Glu1690Val)
c.4667A>T (p.Glu1556Val)
c.3905A>T (p.Glu1302Val)
c.2801A>T (p.Glu934Val)
21g.46402359delCA2655023580PCNTc.5024del (p.Lys1675ArgfsTer2)
c.*4234del (n.*4234del)
c.4991del (p.Lys1664ArgfsTer2)
n.5260del
c.4637del (p.Lys1546ArgfsTer2)
c.5102del (p.Lys1701ArgfsTer2)
c.5072del (p.Lys1691ArgfsTer2)
c.4670del (p.Lys1557ArgfsTer2)
c.3908del (p.Lys1303ArgfsTer2)
c.2804del (p.Lys935ArgfsTer2)
 gnomAD v4
21g.46402357A=CA2392660229PCNTc.5022A= (p.Glu1674=)
c.*4232A= (n.*4232A=)
c.4989A= (p.Glu1663=)
n.5258A=
c.4635A= (p.Glu1545=)
c.5100A= (p.Glu1700=)
c.5070A= (p.Glu1690=)
c.4668A= (p.Glu1556=)
c.3906A= (p.Glu1302=)
c.2802A= (p.Glu934=)
21g.46402357A>CCA410581726PCNTc.5022A>C (p.Glu1674Asp)
c.*4232A>C (n.*4232A>C)
c.4989A>C (p.Glu1663Asp)
n.5258A>C
c.4635A>C (p.Glu1545Asp)
c.5100A>C (p.Glu1700Asp)
c.5070A>C (p.Glu1690Asp)
c.4668A>C (p.Glu1556Asp)
c.3906A>C (p.Glu1302Asp)
c.2802A>C (p.Glu934Asp)
21g.46402357A>GCA512745841PCNTc.5022A>G (p.Glu1674=)
c.*4232A>G (n.*4232A>G)
c.4989A>G (p.Glu1663=)
n.5258A>G
c.4635A>G (p.Glu1545=)
c.5100A>G (p.Glu1700=)
c.5070A>G (p.Glu1690=)
c.4668A>G (p.Glu1556=)
c.3906A>G (p.Glu1302=)
c.2802A>G (p.Glu934=)
 dbSNP gnomAD v2
21g.46402357A>TCA410581727PCNTc.5022A>T (p.Glu1674Asp)
c.*4232A>T (n.*4232A>T)
c.4989A>T (p.Glu1663Asp)
n.5258A>T
c.4635A>T (p.Glu1545Asp)
c.5100A>T (p.Glu1700Asp)
c.5070A>T (p.Glu1690Asp)
c.4668A>T (p.Glu1556Asp)
c.3906A>T (p.Glu1302Asp)
c.2802A>T (p.Glu934Asp)
21g.46402358A>CCA410581729PCNTc.5023A>C (p.Lys1675Gln)
c.*4233A>C (n.*4233A>C)
c.4990A>C (p.Lys1664Gln)
n.5259A>C
c.4636A>C (p.Lys1546Gln)
c.5101A>C (p.Lys1701Gln)
c.5071A>C (p.Lys1691Gln)
c.4669A>C (p.Lys1557Gln)
c.3907A>C (p.Lys1303Gln)
c.2803A>C (p.Lys935Gln)
21g.46402358A>GCA410581732PCNTc.5023A>G (p.Lys1675Glu)
c.*4233A>G (n.*4233A>G)
c.4990A>G (p.Lys1664Glu)
n.5259A>G
c.4636A>G (p.Lys1546Glu)
c.5101A>G (p.Lys1701Glu)
c.5071A>G (p.Lys1691Glu)
c.4669A>G (p.Lys1557Glu)
c.3907A>G (p.Lys1303Glu)
c.2803A>G (p.Lys935Glu)
21g.46402358A>TCA410581730PCNTc.5023A>T (p.Lys1675Ter)
c.*4233A>T (n.*4233A>T)
c.4990A>T (p.Lys1664Ter)
n.5259A>T
c.4636A>T (p.Lys1546Ter)
c.5101A>T (p.Lys1701Ter)
c.5071A>T (p.Lys1691Ter)
c.4669A>T (p.Lys1557Ter)
c.3907A>T (p.Lys1303Ter)
c.2803A>T (p.Lys935Ter)
21g.46402359A>CCA410581734PCNTc.5024A>C (p.Lys1675Thr)
c.*4234A>C (n.*4234A>C)
c.4991A>C (p.Lys1664Thr)
n.5260A>C
c.4637A>C (p.Lys1546Thr)
c.5102A>C (p.Lys1701Thr)
c.5072A>C (p.Lys1691Thr)
c.4670A>C (p.Lys1557Thr)
c.3908A>C (p.Lys1303Thr)
c.2804A>C (p.Lys935Thr)
21g.46402359A>GCA410581736PCNTc.5024A>G (p.Lys1675Arg)
c.*4234A>G (n.*4234A>G)
c.4991A>G (p.Lys1664Arg)
n.5260A>G
c.4637A>G (p.Lys1546Arg)
c.5102A>G (p.Lys1701Arg)
c.5072A>G (p.Lys1691Arg)
c.4670A>G (p.Lys1557Arg)
c.3908A>G (p.Lys1303Arg)
c.2804A>G (p.Lys935Arg)
21g.46402359A>TCA410581735PCNTc.5024A>T (p.Lys1675Met)
c.*4234A>T (n.*4234A>T)
c.4991A>T (p.Lys1664Met)
n.5260A>T
c.4637A>T (p.Lys1546Met)
c.5102A>T (p.Lys1701Met)
c.5072A>T (p.Lys1691Met)
c.4670A>T (p.Lys1557Met)
c.3908A>T (p.Lys1303Met)
c.2804A>T (p.Lys935Met)
21g.46402360G>ACA512745857PCNTc.5025G>A (p.Lys1675=)
c.*4235G>A (n.*4235G>A)
c.4992G>A (p.Lys1664=)
n.5261G>A
c.4638G>A (p.Lys1546=)
c.5103G>A (p.Lys1701=)
c.5073G>A (p.Lys1691=)
c.4671G>A (p.Lys1557=)
c.3909G>A (p.Lys1303=)
c.2805G>A (p.Lys935=)
21g.46402360G>CCA410581737PCNTc.5025G>C (p.Lys1675Asn)
c.*4235G>C (n.*4235G>C)
c.4992G>C (p.Lys1664Asn)
n.5261G>C
c.4638G>C (p.Lys1546Asn)
c.5103G>C (p.Lys1701Asn)
c.5073G>C (p.Lys1691Asn)
c.4671G>C (p.Lys1557Asn)
c.3909G>C (p.Lys1303Asn)
c.2805G>C (p.Lys935Asn)
21g.46402360G>TCA410581738PCNTc.5025G>T (p.Lys1675Asn)
c.*4235G>T (n.*4235G>T)
c.4992G>T (p.Lys1664Asn)
n.5261G>T
c.4638G>T (p.Lys1546Asn)
c.5103G>T (p.Lys1701Asn)
c.5073G>T (p.Lys1691Asn)
c.4671G>T (p.Lys1557Asn)
c.3909G>T (p.Lys1303Asn)
c.2805G>T (p.Lys935Asn)
21g.46402361A=CA2392660230PCNTc.5026A= (p.Met1676=)
c.*4236A= (n.*4236A=)
c.4993A= (p.Met1665=)
n.5262A=
c.4639A= (p.Met1547=)
c.5104A= (p.Met1702=)
c.5074A= (p.Met1692=)
c.4672A= (p.Met1558=)
c.3910A= (p.Met1304=)
c.2806A= (p.Met936=)
21g.46402361A>CCA410581740PCNTc.5026A>C (p.Met1676Leu)
c.*4236A>C (n.*4236A>C)
c.4993A>C (p.Met1665Leu)
n.5262A>C
c.4639A>C (p.Met1547Leu)
c.5104A>C (p.Met1702Leu)
c.5074A>C (p.Met1692Leu)
c.4672A>C (p.Met1558Leu)
c.3910A>C (p.Met1304Leu)
c.2806A>C (p.Met936Leu)
21g.46402361A>GCA410581743PCNTc.5026A>G (p.Met1676Val)
c.*4236A>G (n.*4236A>G)
c.4993A>G (p.Met1665Val)
n.5262A>G
c.4639A>G (p.Met1547Val)
c.5104A>G (p.Met1702Val)
c.5074A>G (p.Met1692Val)
c.4672A>G (p.Met1558Val)
c.3910A>G (p.Met1304Val)
c.2806A>G (p.Met936Val)
 dbSNP gnomAD v2 gnomAD v4
21g.46402361A>TCA410581742PCNTc.5026A>T (p.Met1676Leu)
c.*4236A>T (n.*4236A>T)
c.4993A>T (p.Met1665Leu)
n.5262A>T
c.4639A>T (p.Met1547Leu)
c.5104A>T (p.Met1702Leu)
c.5074A>T (p.Met1692Leu)
c.4672A>T (p.Met1558Leu)
c.3910A>T (p.Met1304Leu)
c.2806A>T (p.Met936Leu)
21g.46402362T>ACA410581745PCNTc.5027T>A (p.Met1676Lys)
c.*4237T>A (n.*4237T>A)
c.4994T>A (p.Met1665Lys)
n.5263T>A
c.4640T>A (p.Met1547Lys)
c.5105T>A (p.Met1702Lys)
c.5075T>A (p.Met1692Lys)
c.4673T>A (p.Met1558Lys)
c.3911T>A (p.Met1304Lys)
c.2807T>A (p.Met936Lys)
21g.46402362T>CCA410581748PCNTc.5027T>C (p.Met1676Thr)
c.*4237T>C (n.*4237T>C)
c.4994T>C (p.Met1665Thr)
n.5263T>C
c.4640T>C (p.Met1547Thr)
c.5105T>C (p.Met1702Thr)
c.5075T>C (p.Met1692Thr)
c.4673T>C (p.Met1558Thr)
c.3911T>C (p.Met1304Thr)
c.2807T>C (p.Met936Thr)
 dbSNP
21g.46402362T>GCA410581746PCNTc.5027T>G (p.Met1676Arg)
c.*4237T>G (n.*4237T>G)
c.4994T>G (p.Met1665Arg)
n.5263T>G
c.4640T>G (p.Met1547Arg)
c.5105T>G (p.Met1702Arg)
c.5075T>G (p.Met1692Arg)
c.4673T>G (p.Met1558Arg)
c.3911T>G (p.Met1304Arg)
c.2807T>G (p.Met936Arg)
21g.46402362T=CA2392660231PCNTc.5027T= (p.Met1676=)
c.*4237T= (n.*4237T=)
c.4994T= (p.Met1665=)
n.5263T=
c.4640T= (p.Met1547=)
c.5105T= (p.Met1702=)
c.5075T= (p.Met1692=)
c.4673T= (p.Met1558=)
c.3911T= (p.Met1304=)
c.2807T= (p.Met936=)
21g.46402363G>ACA410581749PCNTc.5028G>A (p.Met1676Ile)
c.*4238G>A (n.*4238G>A)
c.4995G>A (p.Met1665Ile)
n.5264G>A
c.4641G>A (p.Met1547Ile)
c.5106G>A (p.Met1702Ile)
c.5076G>A (p.Met1692Ile)
c.4674G>A (p.Met1558Ile)
c.3912G>A (p.Met1304Ile)
c.2808G>A (p.Met936Ile)
 dbSNP gnomAD v2 gnomAD v4
21g.46402363G>CCA410581752PCNTc.5028G>C (p.Met1676Ile)
c.*4238G>C (n.*4238G>C)
c.4995G>C (p.Met1665Ile)
n.5264G>C
c.4641G>C (p.Met1547Ile)
c.5106G>C (p.Met1702Ile)
c.5076G>C (p.Met1692Ile)
c.4674G>C (p.Met1558Ile)
c.3912G>C (p.Met1304Ile)
c.2808G>C (p.Met936Ile)
21g.46402363G=CA2392660233PCNTc.5028G= (p.Met1676=)
c.*4238G= (n.*4238G=)
c.4995G= (p.Met1665=)
n.5264G=
c.4641G= (p.Met1547=)
c.5106G= (p.Met1702=)
c.5076G= (p.Met1692=)
c.4674G= (p.Met1558=)
c.3912G= (p.Met1304=)
c.2808G= (p.Met936=)
21g.46402363G>TCA410581751PCNTc.5028G>T (p.Met1676Ile)
c.*4238G>T (n.*4238G>T)
c.4995G>T (p.Met1665Ile)
n.5264G>T
c.4641G>T (p.Met1547Ile)
c.5106G>T (p.Met1702Ile)
c.5076G>T (p.Met1692Ile)
c.4674G>T (p.Met1558Ile)
c.3912G>T (p.Met1304Ile)
c.2808G>T (p.Met936Ile)
21g.46402363_46402364delinsGACA2392660232PCNTc.5028_5029delinsGA (p.Met1676=)
c.*4238_*4239delinsGA (n.*4238_*4239delinsGA)
c.4995_4996delinsGA (p.Met1665=)
n.5264_5265delinsGA
c.4641_4642delinsGA (p.Met1547=)
c.5106_5107delinsGA (p.Met1702=)
c.5076_5077delinsGA (p.Met1692=)
c.4674_4675delinsGA (p.Met1558=)
c.3912_3913delinsGA (p.Met1304=)
c.2808_2809delinsGA (p.Met936=)
21g.46402364A>CCA410581754PCNTc.5029A>C (p.Lys1677Gln)
c.*4239A>C (n.*4239A>C)
c.4996A>C (p.Lys1666Gln)
n.5265A>C
c.4642A>C (p.Lys1548Gln)
c.5107A>C (p.Lys1703Gln)
c.5077A>C (p.Lys1693Gln)
c.4675A>C (p.Lys1559Gln)
c.3913A>C (p.Lys1305Gln)
c.2809A>C (p.Lys937Gln)
21g.46402364A>GCA410581756PCNTc.5029A>G (p.Lys1677Glu)
c.*4239A>G (n.*4239A>G)
c.4996A>G (p.Lys1666Glu)
n.5265A>G
c.4642A>G (p.Lys1548Glu)
c.5107A>G (p.Lys1703Glu)
c.5077A>G (p.Lys1693Glu)
c.4675A>G (p.Lys1559Glu)
c.3913A>G (p.Lys1305Glu)
c.2809A>G (p.Lys937Glu)
21g.46402364A>TCA410581755PCNTc.5029A>T (p.Lys1677Ter)
c.*4239A>T (n.*4239A>T)
c.4996A>T (p.Lys1666Ter)
n.5265A>T
c.4642A>T (p.Lys1548Ter)
c.5107A>T (p.Lys1703Ter)
c.5077A>T (p.Lys1693Ter)
c.4675A>T (p.Lys1559Ter)
c.3913A>T (p.Lys1305Ter)
c.2809A>T (p.Lys937Ter)
21g.46402366delCA749888151PCNTc.5031del (p.Gly1678ValfsTer3)
c.*4241del (n.*4241del)
c.4998del (p.Gly1667ValfsTer3)
n.5267del
c.4644del (p.Gly1549ValfsTer3)
c.5109del (p.Gly1704ValfsTer3)
c.5079del (p.Gly1694ValfsTer3)
c.4677del (p.Gly1560ValfsTer3)
c.3915del (p.Gly1306ValfsTer3)
c.2811del (p.Gly938ValfsTer3)
 dbSNP gnomAD v3 gnomAD v4
21g.46402365A>CCA410581758PCNTc.5030A>C (p.Lys1677Thr)
c.*4240A>C (n.*4240A>C)
c.4997A>C (p.Lys1666Thr)
n.5266A>C
c.4643A>C (p.Lys1548Thr)
c.5108A>C (p.Lys1703Thr)
c.5078A>C (p.Lys1693Thr)
c.4676A>C (p.Lys1559Thr)
c.3914A>C (p.Lys1305Thr)
c.2810A>C (p.Lys937Thr)
21g.46402365A>GCA410581759PCNTc.5030A>G (p.Lys1677Arg)
c.*4240A>G (n.*4240A>G)
c.4997A>G (p.Lys1666Arg)
n.5266A>G
c.4643A>G (p.Lys1548Arg)
c.5108A>G (p.Lys1703Arg)
c.5078A>G (p.Lys1693Arg)
c.4676A>G (p.Lys1559Arg)
c.3914A>G (p.Lys1305Arg)
c.2810A>G (p.Lys937Arg)
21g.46402365A>TCA410581761PCNTc.5030A>T (p.Lys1677Ile)
c.*4240A>T (n.*4240A>T)
c.4997A>T (p.Lys1666Ile)
n.5266A>T
c.4643A>T (p.Lys1548Ile)
c.5108A>T (p.Lys1703Ile)
c.5078A>T (p.Lys1693Ile)
c.4676A>T (p.Lys1559Ile)
c.3914A>T (p.Lys1305Ile)
c.2810A>T (p.Lys937Ile)
21g.46402366A>CCA410581762PCNTc.5031A>C (p.Lys1677Asn)
c.*4241A>C (n.*4241A>C)
c.4998A>C (p.Lys1666Asn)
n.5267A>C
c.4644A>C (p.Lys1548Asn)
c.5109A>C (p.Lys1703Asn)
c.5079A>C (p.Lys1693Asn)
c.4677A>C (p.Lys1559Asn)
c.3915A>C (p.Lys1305Asn)
c.2811A>C (p.Lys937Asn)
21g.46402366A>GCA512745870PCNTc.5031A>G (p.Lys1677=)
c.*4241A>G (n.*4241A>G)
c.4998A>G (p.Lys1666=)
n.5267A>G
c.4644A>G (p.Lys1548=)
c.5109A>G (p.Lys1703=)
c.5079A>G (p.Lys1693=)
c.4677A>G (p.Lys1559=)
c.3915A>G (p.Lys1305=)
c.2811A>G (p.Lys937=)
21g.46402366A>TCA410581763PCNTc.5031A>T (p.Lys1677Asn)
c.*4241A>T (n.*4241A>T)
c.4998A>T (p.Lys1666Asn)
n.5267A>T
c.4644A>T (p.Lys1548Asn)
c.5109A>T (p.Lys1703Asn)
c.5079A>T (p.Lys1693Asn)
c.4677A>T (p.Lys1559Asn)
c.3915A>T (p.Lys1305Asn)
c.2811A>T (p.Lys937Asn)
21g.46402367G>ACA410581766PCNTc.5032G>A (p.Gly1678Ser)
c.*4242G>A (n.*4242G>A)
c.4999G>A (p.Gly1667Ser)
n.5268G>A
c.4645G>A (p.Gly1549Ser)
c.5110G>A (p.Gly1704Ser)
c.5080G>A (p.Gly1694Ser)
c.4678G>A (p.Gly1560Ser)
c.3916G>A (p.Gly1306Ser)
c.2812G>A (p.Gly938Ser)
 dbSNP gnomAD v4
21g.46402367G>CCA410581765PCNTc.5032G>C (p.Gly1678Arg)
c.*4242G>C (n.*4242G>C)
c.4999G>C (p.Gly1667Arg)
n.5268G>C
c.4645G>C (p.Gly1549Arg)
c.5110G>C (p.Gly1704Arg)
c.5080G>C (p.Gly1694Arg)
c.4678G>C (p.Gly1560Arg)
c.3916G>C (p.Gly1306Arg)
c.2812G>C (p.Gly938Arg)
 dbSNP gnomAD v3 gnomAD v4
21g.46402367G=CA2392660234PCNTc.5032G= (p.Gly1678=)
c.*4242G= (n.*4242G=)
c.4999G= (p.Gly1667=)
n.5268G=
c.4645G= (p.Gly1549=)
c.5110G= (p.Gly1704=)
c.5080G= (p.Gly1694=)
c.4678G= (p.Gly1560=)
c.3916G= (p.Gly1306=)
c.2812G= (p.Gly938=)
21g.46402367G>TCA410581764PCNTc.5032G>T (p.Gly1678Cys)
c.*4242G>T (n.*4242G>T)
c.4999G>T (p.Gly1667Cys)
n.5268G>T
c.4645G>T (p.Gly1549Cys)
c.5110G>T (p.Gly1704Cys)
c.5080G>T (p.Gly1694Cys)
c.4678G>T (p.Gly1560Cys)
c.3916G>T (p.Gly1306Cys)
c.2812G>T (p.Gly938Cys)
21g.46402368G>ACA410581768PCNTc.5033G>A (p.Gly1678Asp)
c.*4243G>A (n.*4243G>A)
c.5000G>A (p.Gly1667Asp)
n.5269G>A
c.4646G>A (p.Gly1549Asp)
c.5111G>A (p.Gly1704Asp)
c.5081G>A (p.Gly1694Asp)
c.4679G>A (p.Gly1560Asp)
c.3917G>A (p.Gly1306Asp)
c.2813G>A (p.Gly938Asp)
21g.46402368G>CCA410581770PCNTc.5033G>C (p.Gly1678Ala)
c.*4243G>C (n.*4243G>C)
c.5000G>C (p.Gly1667Ala)
n.5269G>C
c.4646G>C (p.Gly1549Ala)
c.5111G>C (p.Gly1704Ala)
c.5081G>C (p.Gly1694Ala)
c.4679G>C (p.Gly1560Ala)
c.3917G>C (p.Gly1306Ala)
c.2813G>C (p.Gly938Ala)
 gnomAD v4
21g.46402368G>TCA410581771PCNTc.5033G>T (p.Gly1678Val)
c.*4243G>T (n.*4243G>T)
c.5000G>T (p.Gly1667Val)
n.5269G>T
c.4646G>T (p.Gly1549Val)
c.5111G>T (p.Gly1704Val)
c.5081G>T (p.Gly1694Val)
c.4679G>T (p.Gly1560Val)
c.3917G>T (p.Gly1306Val)
c.2813G>T (p.Gly938Val)
21g.46402369T>ACA512745880PCNTc.5034T>A (p.Gly1678=)
c.*4244T>A (n.*4244T>A)
c.5001T>A (p.Gly1667=)
n.5270T>A
c.4647T>A (p.Gly1549=)
c.5112T>A (p.Gly1704=)
c.5082T>A (p.Gly1694=)
c.4680T>A (p.Gly1560=)
c.3918T>A (p.Gly1306=)
c.2814T>A (p.Gly938=)
21g.46402369T>CCA512745882PCNTc.5034T>C (p.Gly1678=)
c.*4244T>C (n.*4244T>C)
c.5001T>C (p.Gly1667=)
n.5270T>C
c.4647T>C (p.Gly1549=)
c.5112T>C (p.Gly1704=)
c.5082T>C (p.Gly1694=)
c.4680T>C (p.Gly1560=)
c.3918T>C (p.Gly1306=)
c.2814T>C (p.Gly938=)
21g.46402369T>GCA512745884PCNTc.5034T>G (p.Gly1678=)
c.*4244T>G (n.*4244T>G)
c.5001T>G (p.Gly1667=)
n.5270T>G
c.4647T>G (p.Gly1549=)
c.5112T>G (p.Gly1704=)
c.5082T>G (p.Gly1694=)
c.4680T>G (p.Gly1560=)
c.3918T>G (p.Gly1306=)
c.2814T>G (p.Gly938=)
21g.46402370G>ACA410581772PCNTc.5035G>A (p.Asp1679Asn)
c.*4245G>A (n.*4245G>A)
c.5002G>A (p.Asp1668Asn)
n.5271G>A
c.4648G>A (p.Asp1550Asn)
c.5113G>A (p.Asp1705Asn)
c.5083G>A (p.Asp1695Asn)
c.4681G>A (p.Asp1561Asn)
c.3919G>A (p.Asp1307Asn)
c.2815G>A (p.Asp939Asn)
21g.46402370G>CCA410581774PCNTc.5035G>C (p.Asp1679His)
c.*4245G>C (n.*4245G>C)
c.5002G>C (p.Asp1668His)
n.5271G>C
c.4648G>C (p.Asp1550His)
c.5113G>C (p.Asp1705His)
c.5083G>C (p.Asp1695His)
c.4681G>C (p.Asp1561His)
c.3919G>C (p.Asp1307His)
c.2815G>C (p.Asp939His)
21g.46402370G=CA2392660235PCNTc.5035G= (p.Asp1679=)
c.*4245G= (n.*4245G=)
c.5002G= (p.Asp1668=)
n.5271G=
c.4648G= (p.Asp1550=)
c.5113G= (p.Asp1705=)
c.5083G= (p.Asp1695=)
c.4681G= (p.Asp1561=)
c.3919G= (p.Asp1307=)
c.2815G= (p.Asp939=)
21g.46402370G>TCA10079859PCNTc.5035G>T (p.Asp1679Tyr)
c.*4245G>T (n.*4245G>T)
c.5002G>T (p.Asp1668Tyr)
n.5271G>T
c.4648G>T (p.Asp1550Tyr)
c.5113G>T (p.Asp1705Tyr)
c.5083G>T (p.Asp1695Tyr)
c.4681G>T (p.Asp1561Tyr)
c.3919G>T (p.Asp1307Tyr)
c.2815G>T (p.Asp939Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46402371A>CCA410581776PCNTc.5036A>C (p.Asp1679Ala)
c.*4246A>C (n.*4246A>C)
c.5003A>C (p.Asp1668Ala)
n.5272A>C
c.4649A>C (p.Asp1550Ala)
c.5114A>C (p.Asp1705Ala)
c.5084A>C (p.Asp1695Ala)
c.4682A>C (p.Asp1561Ala)
c.3920A>C (p.Asp1307Ala)
c.2816A>C (p.Asp939Ala)
21g.46402371A>GCA410581779PCNTc.5036A>G (p.Asp1679Gly)
c.*4246A>G (n.*4246A>G)
c.5003A>G (p.Asp1668Gly)
n.5272A>G
c.4649A>G (p.Asp1550Gly)
c.5114A>G (p.Asp1705Gly)
c.5084A>G (p.Asp1695Gly)
c.4682A>G (p.Asp1561Gly)
c.3920A>G (p.Asp1307Gly)
c.2816A>G (p.Asp939Gly)
21g.46402371A>TCA410581778PCNTc.5036A>T (p.Asp1679Val)
c.*4246A>T (n.*4246A>T)
c.5003A>T (p.Asp1668Val)
n.5272A>T
c.4649A>T (p.Asp1550Val)
c.5114A>T (p.Asp1705Val)
c.5084A>T (p.Asp1695Val)
c.4682A>T (p.Asp1561Val)
c.3920A>T (p.Asp1307Val)
c.2816A>T (p.Asp939Val)
21g.46402372C>ACA410581780PCNTc.5037C>A (p.Asp1679Glu)
c.*4247C>A (n.*4247C>A)
c.5004C>A (p.Asp1668Glu)
n.5273C>A
c.4650C>A (p.Asp1550Glu)
c.5115C>A (p.Asp1705Glu)
c.5085C>A (p.Asp1695Glu)
c.4683C>A (p.Asp1561Glu)
c.3921C>A (p.Asp1307Glu)
c.2817C>A (p.Asp939Glu)
21g.46402372C=CA2392660236PCNTc.5037C= (p.Asp1679=)
c.*4247C= (n.*4247C=)
c.5004C= (p.Asp1668=)
n.5273C=
c.4650C= (p.Asp1550=)
c.5115C= (p.Asp1705=)
c.5085C= (p.Asp1695=)
c.4683C= (p.Asp1561=)
c.3921C= (p.Asp1307=)
c.2817C= (p.Asp939=)
21g.46402372C>GCA410581782PCNTc.5037C>G (p.Asp1679Glu)
c.*4247C>G (n.*4247C>G)
c.5004C>G (p.Asp1668Glu)
n.5273C>G
c.4650C>G (p.Asp1550Glu)
c.5115C>G (p.Asp1705Glu)
c.5085C>G (p.Asp1695Glu)
c.4683C>G (p.Asp1561Glu)
c.3921C>G (p.Asp1307Glu)
c.2817C>G (p.Asp939Glu)
 gnomAD v4
21g.46402372C>TCA10079860PCNTc.5037C>T (p.Asp1679=)
c.*4247C>T (n.*4247C>T)
c.5004C>T (p.Asp1668=)
n.5273C>T
c.4650C>T (p.Asp1550=)
c.5115C>T (p.Asp1705=)
c.5085C>T (p.Asp1695=)
c.4683C>T (p.Asp1561=)
c.3921C>T (p.Asp1307=)
c.2817C>T (p.Asp939=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46402373T>ACA410581783PCNTc.5038T>A (p.Leu1680Ile)
c.*4248T>A (n.*4248T>A)
c.5005T>A (p.Leu1669Ile)
n.5274T>A
c.4651T>A (p.Leu1551Ile)
c.5116T>A (p.Leu1706Ile)
c.5086T>A (p.Leu1696Ile)
c.4684T>A (p.Leu1562Ile)
c.3922T>A (p.Leu1308Ile)
c.2818T>A (p.Leu940Ile)
21g.46402373T>CCA512745911PCNTc.5038T>C (p.Leu1680=)
c.*4248T>C (n.*4248T>C)
c.5005T>C (p.Leu1669=)
n.5274T>C
c.4651T>C (p.Leu1551=)
c.5116T>C (p.Leu1706=)
c.5086T>C (p.Leu1696=)
c.4684T>C (p.Leu1562=)
c.3922T>C (p.Leu1308=)
c.2818T>C (p.Leu940=)
21g.46402373T>GCA410581784PCNTc.5038T>G (p.Leu1680Val)
c.*4248T>G (n.*4248T>G)
c.5005T>G (p.Leu1669Val)
n.5274T>G
c.4651T>G (p.Leu1551Val)
c.5116T>G (p.Leu1706Val)
c.5086T>G (p.Leu1696Val)
c.4684T>G (p.Leu1562Val)
c.3922T>G (p.Leu1308Val)
c.2818T>G (p.Leu940Val)
21g.46402374T>ACA410581786PCNTc.5039T>A (p.Leu1680Ter)
c.*4249T>A (n.*4249T>A)
c.5006T>A (p.Leu1669Ter)
n.5275T>A
c.4652T>A (p.Leu1551Ter)
c.5117T>A (p.Leu1706Ter)
c.5087T>A (p.Leu1696Ter)
c.4685T>A (p.Leu1562Ter)
c.3923T>A (p.Leu1308Ter)
c.2819T>A (p.Leu940Ter)
21g.46402374T>CCA410581787PCNTc.5039T>C (p.Leu1680Ser)
c.*4249T>C (n.*4249T>C)
c.5006T>C (p.Leu1669Ser)
n.5275T>C
c.4652T>C (p.Leu1551Ser)
c.5117T>C (p.Leu1706Ser)
c.5087T>C (p.Leu1696Ser)
c.4685T>C (p.Leu1562Ser)
c.3923T>C (p.Leu1308Ser)
c.2819T>C (p.Leu940Ser)
 dbSNP gnomAD v2 gnomAD v4
21g.46402374T>GCA410581789PCNTc.5039T>G (p.Leu1680Ter)
c.*4249T>G (n.*4249T>G)
c.5006T>G (p.Leu1669Ter)
n.5275T>G
c.4652T>G (p.Leu1551Ter)
c.5117T>G (p.Leu1706Ter)
c.5087T>G (p.Leu1696Ter)
c.4685T>G (p.Leu1562Ter)
c.3923T>G (p.Leu1308Ter)
c.2819T>G (p.Leu940Ter)
21g.46402374T=CA2392660237PCNTc.5039T= (p.Leu1680=)
c.*4249T= (n.*4249T=)
c.5006T= (p.Leu1669=)
n.5275T=
c.4652T= (p.Leu1551=)
c.5117T= (p.Leu1706=)
c.5087T= (p.Leu1696=)
c.4685T= (p.Leu1562=)
c.3923T= (p.Leu1308=)
c.2819T= (p.Leu940=)
21g.46402375A=CA2392660238PCNTc.5040A= (p.Leu1680=)
c.*4250A= (n.*4250A=)
c.5007A= (p.Leu1669=)
n.5276A=
c.4653A= (p.Leu1551=)
c.5118A= (p.Leu1706=)
c.5088A= (p.Leu1696=)
c.4686A= (p.Leu1562=)
c.3924A= (p.Leu1308=)
c.2820A= (p.Leu940=)
21g.46402375A>CCA10079861PCNTc.5040A>C (p.Leu1680Phe)
c.*4250A>C (n.*4250A>C)
c.5007A>C (p.Leu1669Phe)
n.5276A>C
c.4653A>C (p.Leu1551Phe)
c.5118A>C (p.Leu1706Phe)
c.5088A>C (p.Leu1696Phe)
c.4686A>C (p.Leu1562Phe)
c.3924A>C (p.Leu1308Phe)
c.2820A>C (p.Leu940Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402375A>GCA512745920PCNTc.5040A>G (p.Leu1680=)
c.*4250A>G (n.*4250A>G)
c.5007A>G (p.Leu1669=)
n.5276A>G
c.4653A>G (p.Leu1551=)
c.5118A>G (p.Leu1706=)
c.5088A>G (p.Leu1696=)
c.4686A>G (p.Leu1562=)
c.3924A>G (p.Leu1308=)
c.2820A>G (p.Leu940=)
21g.46402375A>TCA410581790PCNTc.5040A>T (p.Leu1680Phe)
c.*4250A>T (n.*4250A>T)
c.5007A>T (p.Leu1669Phe)
n.5276A>T
c.4653A>T (p.Leu1551Phe)
c.5118A>T (p.Leu1706Phe)
c.5088A>T (p.Leu1696Phe)
c.4686A>T (p.Leu1562Phe)
c.3924A>T (p.Leu1308Phe)
c.2820A>T (p.Leu940Phe)
21g.46402376G>ACA410581791PCNTc.5041G>A (p.Glu1681Lys)
c.*4251G>A (n.*4251G>A)
c.5008G>A (p.Glu1670Lys)
n.5277G>A
c.4654G>A (p.Glu1552Lys)
c.5119G>A (p.Glu1707Lys)
c.5089G>A (p.Glu1697Lys)
c.4687G>A (p.Glu1563Lys)
c.3925G>A (p.Glu1309Lys)
c.2821G>A (p.Glu941Lys)
21g.46402376G>CCA410581793PCNTc.5041G>C (p.Glu1681Gln)
c.*4251G>C (n.*4251G>C)
c.5008G>C (p.Glu1670Gln)
n.5277G>C
c.4654G>C (p.Glu1552Gln)
c.5119G>C (p.Glu1707Gln)
c.5089G>C (p.Glu1697Gln)
c.4687G>C (p.Glu1563Gln)
c.3925G>C (p.Glu1309Gln)
c.2821G>C (p.Glu941Gln)
 ClinVar
21g.46402376G>TCA410581792PCNTc.5041G>T (p.Glu1681Ter)
c.*4251G>T (n.*4251G>T)
c.5008G>T (p.Glu1670Ter)
n.5277G>T
c.4654G>T (p.Glu1552Ter)
c.5119G>T (p.Glu1707Ter)
c.5089G>T (p.Glu1697Ter)
c.4687G>T (p.Glu1563Ter)
c.3925G>T (p.Glu1309Ter)
c.2821G>T (p.Glu941Ter)
21g.46402377A>CCA410581795PCNTc.5042A>C (p.Glu1681Ala)
c.*4252A>C (n.*4252A>C)
c.5009A>C (p.Glu1670Ala)
n.5278A>C
c.4655A>C (p.Glu1552Ala)
c.5120A>C (p.Glu1707Ala)
c.5090A>C (p.Glu1697Ala)
c.4688A>C (p.Glu1563Ala)
c.3926A>C (p.Glu1309Ala)
c.2822A>C (p.Glu941Ala)
21g.46402377A>GCA410581797PCNTc.5042A>G (p.Glu1681Gly)
c.*4252A>G (n.*4252A>G)
c.5009A>G (p.Glu1670Gly)
n.5278A>G
c.4655A>G (p.Glu1552Gly)
c.5120A>G (p.Glu1707Gly)
c.5090A>G (p.Glu1697Gly)
c.4688A>G (p.Glu1563Gly)
c.3926A>G (p.Glu1309Gly)
c.2822A>G (p.Glu941Gly)
 gnomAD v4
21g.46402377A>TCA410581798PCNTc.5042A>T (p.Glu1681Val)
c.*4252A>T (n.*4252A>T)
c.5009A>T (p.Glu1670Val)
n.5278A>T
c.4655A>T (p.Glu1552Val)
c.5120A>T (p.Glu1707Val)
c.5090A>T (p.Glu1697Val)
c.4688A>T (p.Glu1563Val)
c.3926A>T (p.Glu1309Val)
c.2822A>T (p.Glu941Val)
21g.46402378A>CCA410581799PCNTc.5043A>C (p.Glu1681Asp)
c.*4253A>C (n.*4253A>C)
c.5010A>C (p.Glu1670Asp)
n.5279A>C
c.4656A>C (p.Glu1552Asp)
c.5121A>C (p.Glu1707Asp)
c.5091A>C (p.Glu1697Asp)
c.4689A>C (p.Glu1563Asp)
c.3927A>C (p.Glu1309Asp)
c.2823A>C (p.Glu941Asp)
21g.46402378A>GCA512745936PCNTc.5043A>G (p.Glu1681=)
c.*4253A>G (n.*4253A>G)
c.5010A>G (p.Glu1670=)
n.5279A>G
c.4656A>G (p.Glu1552=)
c.5121A>G (p.Glu1707=)
c.5091A>G (p.Glu1697=)
c.4689A>G (p.Glu1563=)
c.3927A>G (p.Glu1309=)
c.2823A>G (p.Glu941=)
21g.46402378A>TCA410581800PCNTc.5043A>T (p.Glu1681Asp)
c.*4253A>T (n.*4253A>T)
c.5010A>T (p.Glu1670Asp)
n.5279A>T
c.4656A>T (p.Glu1552Asp)
c.5121A>T (p.Glu1707Asp)
c.5091A>T (p.Glu1697Asp)
c.4689A>T (p.Glu1563Asp)
c.3927A>T (p.Glu1309Asp)
c.2823A>T (p.Glu941Asp)
21g.46402379A>CCA410581802PCNTc.5044A>C (p.Ser1682Arg)
c.*4254A>C (n.*4254A>C)
c.5011A>C (p.Ser1671Arg)
n.5280A>C
c.4657A>C (p.Ser1553Arg)
c.5122A>C (p.Ser1708Arg)
c.5092A>C (p.Ser1698Arg)
c.4690A>C (p.Ser1564Arg)
c.3928A>C (p.Ser1310Arg)
c.2824A>C (p.Ser942Arg)
21g.46402379A>GCA410581804PCNTc.5044A>G (p.Ser1682Gly)
c.*4254A>G (n.*4254A>G)
c.5011A>G (p.Ser1671Gly)
n.5280A>G
c.4657A>G (p.Ser1553Gly)
c.5122A>G (p.Ser1708Gly)
c.5092A>G (p.Ser1698Gly)
c.4690A>G (p.Ser1564Gly)
c.3928A>G (p.Ser1310Gly)
c.2824A>G (p.Ser942Gly)
21g.46402379A>TCA410581805PCNTc.5044A>T (p.Ser1682Cys)
c.*4254A>T (n.*4254A>T)
c.5011A>T (p.Ser1671Cys)
n.5280A>T
c.4657A>T (p.Ser1553Cys)
c.5122A>T (p.Ser1708Cys)
c.5092A>T (p.Ser1698Cys)
c.4690A>T (p.Ser1564Cys)
c.3928A>T (p.Ser1310Cys)
c.2824A>T (p.Ser942Cys)
21g.46402380G>ACA410581807PCNTc.5045G>A (p.Ser1682Asn)
c.*4255G>A (n.*4255G>A)
c.5012G>A (p.Ser1671Asn)
n.5281G>A
c.4658G>A (p.Ser1553Asn)
c.5123G>A (p.Ser1708Asn)
c.5093G>A (p.Ser1698Asn)
c.4691G>A (p.Ser1564Asn)
c.3929G>A (p.Ser1310Asn)
c.2825G>A (p.Ser942Asn)
21g.46402380G>CCA410581808PCNTc.5045G>C (p.Ser1682Thr)
c.*4255G>C (n.*4255G>C)
c.5012G>C (p.Ser1671Thr)
n.5281G>C
c.4658G>C (p.Ser1553Thr)
c.5123G>C (p.Ser1708Thr)
c.5093G>C (p.Ser1698Thr)
c.4691G>C (p.Ser1564Thr)
c.3929G>C (p.Ser1310Thr)
c.2825G>C (p.Ser942Thr)
21g.46402380G>TCA410581809PCNTc.5045G>T (p.Ser1682Ile)
c.*4255G>T (n.*4255G>T)
c.5012G>T (p.Ser1671Ile)
n.5281G>T
c.4658G>T (p.Ser1553Ile)
c.5123G>T (p.Ser1708Ile)
c.5093G>T (p.Ser1698Ile)
c.4691G>T (p.Ser1564Ile)
c.3929G>T (p.Ser1310Ile)
c.2825G>T (p.Ser942Ile)
21g.46402381T>ACA410581813PCNTc.5046T>A (p.Ser1682Arg)
c.*4256T>A (n.*4256T>A)
c.5013T>A (p.Ser1671Arg)
n.5282T>A
c.4659T>A (p.Ser1553Arg)
c.5124T>A (p.Ser1708Arg)
c.5094T>A (p.Ser1698Arg)
c.4692T>A (p.Ser1564Arg)
c.3930T>A (p.Ser1310Arg)
c.2826T>A (p.Ser942Arg)
21g.46402381T>CCA512745950PCNTc.5046T>C (p.Ser1682=)
c.*4256T>C (n.*4256T>C)
c.5013T>C (p.Ser1671=)
n.5282T>C
c.4659T>C (p.Ser1553=)
c.5124T>C (p.Ser1708=)
c.5094T>C (p.Ser1698=)
c.4692T>C (p.Ser1564=)
c.3930T>C (p.Ser1310=)
c.2826T>C (p.Ser942=)
21g.46402381T>GCA410581811PCNTc.5046T>G (p.Ser1682Arg)
c.*4256T>G (n.*4256T>G)
c.5013T>G (p.Ser1671Arg)
n.5282T>G
c.4659T>G (p.Ser1553Arg)
c.5124T>G (p.Ser1708Arg)
c.5094T>G (p.Ser1698Arg)
c.4692T>G (p.Ser1564Arg)
c.3930T>G (p.Ser1310Arg)
c.2826T>G (p.Ser942Arg)
21g.46402382A=CA2392660239PCNTc.5047A= (p.Lys1683=)
c.*4257A= (n.*4257A=)
c.5014A= (p.Lys1672=)
n.5283A=
c.4660A= (p.Lys1554=)
c.5125A= (p.Lys1709=)
c.5095A= (p.Lys1699=)
c.4693A= (p.Lys1565=)
c.3931A= (p.Lys1311=)
c.2827A= (p.Lys943=)
21g.46402382A>CCA410581814PCNTc.5047A>C (p.Lys1683Gln)
c.*4257A>C (n.*4257A>C)
c.5014A>C (p.Lys1672Gln)
n.5283A>C
c.4660A>C (p.Lys1554Gln)
c.5125A>C (p.Lys1709Gln)
c.5095A>C (p.Lys1699Gln)
c.4693A>C (p.Lys1565Gln)
c.3931A>C (p.Lys1311Gln)
c.2827A>C (p.Lys943Gln)
21g.46402382A>GCA10079862PCNTc.5047A>G (p.Lys1683Glu)
c.*4257A>G (n.*4257A>G)
c.5014A>G (p.Lys1672Glu)
n.5283A>G
c.4660A>G (p.Lys1554Glu)
c.5125A>G (p.Lys1709Glu)
c.5095A>G (p.Lys1699Glu)
c.4693A>G (p.Lys1565Glu)
c.3931A>G (p.Lys1311Glu)
c.2827A>G (p.Lys943Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46402382A>TCA410581816PCNTc.5047A>T (p.Lys1683Ter)
c.*4257A>T (n.*4257A>T)
c.5014A>T (p.Lys1672Ter)
n.5283A>T
c.4660A>T (p.Lys1554Ter)
c.5125A>T (p.Lys1709Ter)
c.5095A>T (p.Lys1699Ter)
c.4693A>T (p.Lys1565Ter)
c.3931A>T (p.Lys1311Ter)
c.2827A>T (p.Lys943Ter)
21g.46402383A=CA2392660240PCNTc.5048A= (p.Lys1683=)
c.*4258A= (n.*4258A=)
c.5015A= (p.Lys1672=)
n.5284A=
c.4661A= (p.Lys1554=)
c.5126A= (p.Lys1709=)
c.5096A= (p.Lys1699=)
c.4694A= (p.Lys1565=)
c.3932A= (p.Lys1311=)
c.2828A= (p.Lys943=)
21g.46402383A>CCA410581817PCNTc.5048A>C (p.Lys1683Thr)
c.*4258A>C (n.*4258A>C)
c.5015A>C (p.Lys1672Thr)
n.5284A>C
c.4661A>C (p.Lys1554Thr)
c.5126A>C (p.Lys1709Thr)
c.5096A>C (p.Lys1699Thr)
c.4694A>C (p.Lys1565Thr)
c.3932A>C (p.Lys1311Thr)
c.2828A>C (p.Lys943Thr)
21g.46402383A>GCA410581819PCNTc.5048A>G (p.Lys1683Arg)
c.*4258A>G (n.*4258A>G)
c.5015A>G (p.Lys1672Arg)
n.5284A>G
c.4661A>G (p.Lys1554Arg)
c.5126A>G (p.Lys1709Arg)
c.5096A>G (p.Lys1699Arg)
c.4694A>G (p.Lys1565Arg)
c.3932A>G (p.Lys1311Arg)
c.2828A>G (p.Lys943Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46402383A>TCA410581820PCNTc.5048A>T (p.Lys1683Ile)
c.*4258A>T (n.*4258A>T)
c.5015A>T (p.Lys1672Ile)
n.5284A>T
c.4661A>T (p.Lys1554Ile)
c.5126A>T (p.Lys1709Ile)
c.5096A>T (p.Lys1699Ile)
c.4694A>T (p.Lys1565Ile)
c.3932A>T (p.Lys1311Ile)
c.2828A>T (p.Lys943Ile)
21g.46402384A>CCA410581822PCNTc.5049A>C (p.Lys1683Asn)
c.*4259A>C (n.*4259A>C)
c.5016A>C (p.Lys1672Asn)
n.5285A>C
c.4662A>C (p.Lys1554Asn)
c.5127A>C (p.Lys1709Asn)
c.5097A>C (p.Lys1699Asn)
c.4695A>C (p.Lys1565Asn)
c.3933A>C (p.Lys1311Asn)
c.2829A>C (p.Lys943Asn)
21g.46402384A>GCA512745967PCNTc.5049A>G (p.Lys1683=)
c.*4259A>G (n.*4259A>G)
c.5016A>G (p.Lys1672=)
n.5285A>G
c.4662A>G (p.Lys1554=)
c.5127A>G (p.Lys1709=)
c.5097A>G (p.Lys1699=)
c.4695A>G (p.Lys1565=)
c.3933A>G (p.Lys1311=)
c.2829A>G (p.Lys943=)
21g.46402384A>TCA410581823PCNTc.5049A>T (p.Lys1683Asn)
c.*4259A>T (n.*4259A>T)
c.5016A>T (p.Lys1672Asn)
n.5285A>T
c.4662A>T (p.Lys1554Asn)
c.5127A>T (p.Lys1709Asn)
c.5097A>T (p.Lys1699Asn)
c.4695A>T (p.Lys1565Asn)
c.3933A>T (p.Lys1311Asn)
c.2829A>T (p.Lys943Asn)
21g.46402385A>CCA410581825PCNTc.5050A>C (p.Asn1684His)
c.*4260A>C (n.*4260A>C)
c.5017A>C (p.Asn1673His)
n.5286A>C
c.4663A>C (p.Asn1555His)
c.5128A>C (p.Asn1710His)
c.5098A>C (p.Asn1700His)
c.4696A>C (p.Asn1566His)
c.3934A>C (p.Asn1312His)
c.2830A>C (p.Asn944His)
21g.46402385A>GCA410581826PCNTc.5050A>G (p.Asn1684Asp)
c.*4260A>G (n.*4260A>G)
c.5017A>G (p.Asn1673Asp)
n.5286A>G
c.4663A>G (p.Asn1555Asp)
c.5128A>G (p.Asn1710Asp)
c.5098A>G (p.Asn1700Asp)
c.4696A>G (p.Asn1566Asp)
c.3934A>G (p.Asn1312Asp)
c.2830A>G (p.Asn944Asp)
21g.46402385A>TCA410581827PCNTc.5050A>T (p.Asn1684Tyr)
c.*4260A>T (n.*4260A>T)
c.5017A>T (p.Asn1673Tyr)
n.5286A>T
c.4663A>T (p.Asn1555Tyr)
c.5128A>T (p.Asn1710Tyr)
c.5098A>T (p.Asn1700Tyr)
c.4696A>T (p.Asn1566Tyr)
c.3934A>T (p.Asn1312Tyr)
c.2830A>T (p.Asn944Tyr)
21g.46402386A>CCA410581829PCNTc.5051A>C (p.Asn1684Thr)
c.*4261A>C (n.*4261A>C)
c.5018A>C (p.Asn1673Thr)
n.5287A>C
c.4664A>C (p.Asn1555Thr)
c.5129A>C (p.Asn1710Thr)
c.5099A>C (p.Asn1700Thr)
c.4697A>C (p.Asn1566Thr)
c.3935A>C (p.Asn1312Thr)
c.2831A>C (p.Asn944Thr)
21g.46402386A>GCA410581831PCNTc.5051A>G (p.Asn1684Ser)
c.*4261A>G (n.*4261A>G)
c.5018A>G (p.Asn1673Ser)
n.5287A>G
c.4664A>G (p.Asn1555Ser)
c.5129A>G (p.Asn1710Ser)
c.5099A>G (p.Asn1700Ser)
c.4697A>G (p.Asn1566Ser)
c.3935A>G (p.Asn1312Ser)
c.2831A>G (p.Asn944Ser)
 gnomAD v4
21g.46402386A>TCA410581828PCNTc.5051A>T (p.Asn1684Ile)
c.*4261A>T (n.*4261A>T)
c.5018A>T (p.Asn1673Ile)
n.5287A>T
c.4664A>T (p.Asn1555Ile)
c.5129A>T (p.Asn1710Ile)
c.5099A>T (p.Asn1700Ile)
c.4697A>T (p.Asn1566Ile)
c.3935A>T (p.Asn1312Ile)
c.2831A>T (p.Asn944Ile)
21g.46402387T>ACA410581833PCNTc.5052T>A (p.Asn1684Lys)
c.*4262T>A (n.*4262T>A)
c.5019T>A (p.Asn1673Lys)
n.5288T>A
c.4665T>A (p.Asn1555Lys)
c.5130T>A (p.Asn1710Lys)
c.5100T>A (p.Asn1700Lys)
c.4698T>A (p.Asn1566Lys)
c.3936T>A (p.Asn1312Lys)
c.2832T>A (p.Asn944Lys)
21g.46402387T>CCA512745977PCNTc.5052T>C (p.Asn1684=)
c.*4262T>C (n.*4262T>C)
c.5019T>C (p.Asn1673=)
n.5288T>C
c.4665T>C (p.Asn1555=)
c.5130T>C (p.Asn1710=)
c.5100T>C (p.Asn1700=)
c.4698T>C (p.Asn1566=)
c.3936T>C (p.Asn1312=)
c.2832T>C (p.Asn944=)
21g.46402387T>GCA410581832PCNTc.5052T>G (p.Asn1684Lys)
c.*4262T>G (n.*4262T>G)
c.5019T>G (p.Asn1673Lys)
n.5288T>G
c.4665T>G (p.Asn1555Lys)
c.5130T>G (p.Asn1710Lys)
c.5100T>G (p.Asn1700Lys)
c.4698T>G (p.Asn1566Lys)
c.3936T>G (p.Asn1312Lys)
c.2832T>G (p.Asn944Lys)
21g.46402388G>ACA410581835PCNTc.5053G>A (p.Glu1685Lys)
c.*4263G>A (n.*4263G>A)
c.5020G>A (p.Glu1674Lys)
n.5289G>A
c.4666G>A (p.Glu1556Lys)
c.5131G>A (p.Glu1711Lys)
c.5101G>A (p.Glu1701Lys)
c.4699G>A (p.Glu1567Lys)
c.3937G>A (p.Glu1313Lys)
c.2833G>A (p.Glu945Lys)
 dbSNP
21g.46402388G>CCA410581837PCNTc.5053G>C (p.Glu1685Gln)
c.*4263G>C (n.*4263G>C)
c.5020G>C (p.Glu1674Gln)
n.5289G>C
c.4666G>C (p.Glu1556Gln)
c.5131G>C (p.Glu1711Gln)
c.5101G>C (p.Glu1701Gln)
c.4699G>C (p.Glu1567Gln)
c.3937G>C (p.Glu1313Gln)
c.2833G>C (p.Glu945Gln)
21g.46402388G=CA2392660241PCNTc.5053G= (p.Glu1685=)
c.*4263G= (n.*4263G=)
c.5020G= (p.Glu1674=)
n.5289G=
c.4666G= (p.Glu1556=)
c.5131G= (p.Glu1711=)
c.5101G= (p.Glu1701=)
c.4699G= (p.Glu1567=)
c.3937G= (p.Glu1313=)
c.2833G= (p.Glu945=)
21g.46402388G>TCA251076PCNTc.5053G>T (p.Glu1685Ter)
c.*4263G>T (n.*4263G>T)
c.5020G>T (p.Glu1674Ter)
n.5289G>T
c.4666G>T (p.Glu1556Ter)
c.5131G>T (p.Glu1711Ter)
c.5101G>T (p.Glu1701Ter)
c.4699G>T (p.Glu1567Ter)
c.3937G>T (p.Glu1313Ter)
c.2833G>T (p.Glu945Ter)
 ClinVar dbSNP

Number of alleles fetched