Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127426050C=CA1286883380PROCc.536-35C= (n.536-35C=)
c.121-2307C=
c.638-35C= (n.638-35C=)
c.479-35C= (n.479-35C=)
n.122-35C=
c.719-35C= (n.719-35C=)
c.701-35C= (n.701-35C=)
c.599-35C= (n.599-35C=)
c.779-35C= (n.779-35C=)
c.881-35C= (n.881-35C=)
c.821-35C= (n.821-35C=)
n.4535G=
c.704-35C= (n.704-35C=)
c.722-35C= (n.722-35C=)
c.512-35C= (n.512-35C=)
c.530-35C= (n.530-35C=)
2g.127426050C>TCA1286883379PROCc.536-35C>T (n.536-35C>T)
c.121-2307C>T
c.638-35C>T (n.638-35C>T)
c.479-35C>T (n.479-35C>T)
n.122-35C>T
c.719-35C>T (n.719-35C>T)
c.701-35C>T (n.701-35C>T)
c.599-35C>T (n.599-35C>T)
c.779-35C>T (n.779-35C>T)
c.881-35C>T (n.881-35C>T)
c.821-35C>T (n.821-35C>T)
n.4535G>A
c.704-35C>T (n.704-35C>T)
c.722-35C>T (n.722-35C>T)
c.512-35C>T (n.512-35C>T)
c.530-35C>T (n.530-35C>T)
 dbSNP gnomAD v4
2g.127426053G>ACA1286883382PROCc.536-32G>A (n.536-32G>A)
c.121-2304G>A
c.638-32G>A (n.638-32G>A)
c.479-32G>A (n.479-32G>A)
n.122-32G>A
c.719-32G>A (n.719-32G>A)
c.701-32G>A (n.701-32G>A)
c.599-32G>A (n.599-32G>A)
c.779-32G>A (n.779-32G>A)
c.881-32G>A (n.881-32G>A)
c.821-32G>A (n.821-32G>A)
n.4532C>T
c.704-32G>A (n.704-32G>A)
c.722-32G>A (n.722-32G>A)
c.512-32G>A (n.512-32G>A)
c.530-32G>A (n.530-32G>A)
 dbSNP
2g.127426053G=CA1286883381PROCc.536-32G= (n.536-32G=)
c.121-2304G=
c.638-32G= (n.638-32G=)
c.479-32G= (n.479-32G=)
n.122-32G=
c.719-32G= (n.719-32G=)
c.701-32G= (n.701-32G=)
c.599-32G= (n.599-32G=)
c.779-32G= (n.779-32G=)
c.881-32G= (n.881-32G=)
c.821-32G= (n.821-32G=)
n.4532C=
c.704-32G= (n.704-32G=)
c.722-32G= (n.722-32G=)
c.512-32G= (n.512-32G=)
c.530-32G= (n.530-32G=)
2g.127426054G>CCA2660996877PROCc.536-31G>C (n.536-31G>C)
c.121-2303G>C
c.638-31G>C (n.638-31G>C)
c.479-31G>C (n.479-31G>C)
n.122-31G>C
c.719-31G>C (n.719-31G>C)
c.701-31G>C (n.701-31G>C)
c.599-31G>C (n.599-31G>C)
c.779-31G>C (n.779-31G>C)
c.881-31G>C (n.881-31G>C)
c.821-31G>C (n.821-31G>C)
n.4531C>G
c.704-31G>C (n.704-31G>C)
c.722-31G>C (n.722-31G>C)
c.512-31G>C (n.512-31G>C)
c.530-31G>C (n.530-31G>C)
 gnomAD v4
2g.127426057G>ACA1859380PROCc.536-28G>A (n.536-28G>A)
c.121-2300G>A
c.638-28G>A (n.638-28G>A)
c.479-28G>A (n.479-28G>A)
n.122-28G>A
c.719-28G>A (n.719-28G>A)
c.701-28G>A (n.701-28G>A)
c.599-28G>A (n.599-28G>A)
c.779-28G>A (n.779-28G>A)
c.881-28G>A (n.881-28G>A)
c.821-28G>A (n.821-28G>A)
n.4528C>T
c.704-28G>A (n.704-28G>A)
c.722-28G>A (n.722-28G>A)
c.512-28G>A (n.512-28G>A)
c.530-28G>A (n.530-28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426057G=CA1286883383PROCc.536-28G= (n.536-28G=)
c.121-2300G=
c.638-28G= (n.638-28G=)
c.479-28G= (n.479-28G=)
n.122-28G=
c.719-28G= (n.719-28G=)
c.701-28G= (n.701-28G=)
c.599-28G= (n.599-28G=)
c.779-28G= (n.779-28G=)
c.881-28G= (n.881-28G=)
c.821-28G= (n.821-28G=)
n.4528C=
c.704-28G= (n.704-28G=)
c.722-28G= (n.722-28G=)
c.512-28G= (n.512-28G=)
c.530-28G= (n.530-28G=)
2g.127426057G>TCA2577090355PROCc.536-28G>T (n.536-28G>T)
c.121-2300G>T
c.638-28G>T (n.638-28G>T)
c.479-28G>T (n.479-28G>T)
n.122-28G>T
c.719-28G>T (n.719-28G>T)
c.701-28G>T (n.701-28G>T)
c.599-28G>T (n.599-28G>T)
c.779-28G>T (n.779-28G>T)
c.881-28G>T (n.881-28G>T)
c.821-28G>T (n.821-28G>T)
n.4528C>A
c.704-28G>T (n.704-28G>T)
c.722-28G>T (n.722-28G>T)
c.512-28G>T (n.512-28G>T)
c.530-28G>T (n.530-28G>T)
 gnomAD v4
2g.127426058G=CA1286883384PROCc.536-27G= (n.536-27G=)
c.121-2299G=
c.638-27G= (n.638-27G=)
c.479-27G= (n.479-27G=)
n.122-27G=
c.719-27G= (n.719-27G=)
c.701-27G= (n.701-27G=)
c.599-27G= (n.599-27G=)
c.779-27G= (n.779-27G=)
c.881-27G= (n.881-27G=)
c.821-27G= (n.821-27G=)
n.4527C=
c.704-27G= (n.704-27G=)
c.722-27G= (n.722-27G=)
c.512-27G= (n.512-27G=)
c.530-27G= (n.530-27G=)
2g.127426059C>ACA2660996878PROCc.536-26C>A (n.536-26C>A)
c.121-2298C>A
c.638-26C>A (n.638-26C>A)
c.479-26C>A (n.479-26C>A)
n.122-26C>A
c.719-26C>A (n.719-26C>A)
c.701-26C>A (n.701-26C>A)
c.599-26C>A (n.599-26C>A)
c.779-26C>A (n.779-26C>A)
c.881-26C>A (n.881-26C>A)
c.821-26C>A (n.821-26C>A)
n.4526G>T
c.704-26C>A (n.704-26C>A)
c.722-26C>A (n.722-26C>A)
c.512-26C>A (n.512-26C>A)
c.530-26C>A (n.530-26C>A)
 gnomAD v4
2g.127426059C>TCA2577090356PROCc.536-26C>T (n.536-26C>T)
c.121-2298C>T
c.638-26C>T (n.638-26C>T)
c.479-26C>T (n.479-26C>T)
n.122-26C>T
c.719-26C>T (n.719-26C>T)
c.701-26C>T (n.701-26C>T)
c.599-26C>T (n.599-26C>T)
c.779-26C>T (n.779-26C>T)
c.881-26C>T (n.881-26C>T)
c.821-26C>T (n.821-26C>T)
n.4526G>A
c.704-26C>T (n.704-26C>T)
c.722-26C>T (n.722-26C>T)
c.512-26C>T (n.512-26C>T)
c.530-26C>T (n.530-26C>T)
 gnomAD v4
2g.127426062dupCA55348177PROCc.536-23dup (n.536-23dup)
c.121-2295dup
c.638-23dup (n.638-23dup)
c.479-23dup (n.479-23dup)
n.122-23dup
c.719-23dup (n.719-23dup)
c.701-23dup (n.701-23dup)
c.599-23dup (n.599-23dup)
c.779-23dup (n.779-23dup)
c.881-23dup (n.881-23dup)
c.821-23dup (n.821-23dup)
n.4526dup
c.704-23dup (n.704-23dup)
c.722-23dup (n.722-23dup)
c.512-23dup (n.512-23dup)
c.530-23dup (n.530-23dup)
 dbSNP gnomAD v3 gnomAD v4
2g.127426060C=CA1286883385PROCc.536-25C= (n.536-25C=)
c.121-2297C=
c.638-25C= (n.638-25C=)
c.479-25C= (n.479-25C=)
n.122-25C=
c.719-25C= (n.719-25C=)
c.701-25C= (n.701-25C=)
c.599-25C= (n.599-25C=)
c.779-25C= (n.779-25C=)
c.881-25C= (n.881-25C=)
c.821-25C= (n.821-25C=)
n.4525G=
c.704-25C= (n.704-25C=)
c.722-25C= (n.722-25C=)
c.512-25C= (n.512-25C=)
c.530-25C= (n.530-25C=)
2g.127426060C>TCA55348185PROCc.536-25C>T (n.536-25C>T)
c.121-2297C>T
c.638-25C>T (n.638-25C>T)
c.479-25C>T (n.479-25C>T)
n.122-25C>T
c.719-25C>T (n.719-25C>T)
c.701-25C>T (n.701-25C>T)
c.599-25C>T (n.599-25C>T)
c.779-25C>T (n.779-25C>T)
c.881-25C>T (n.881-25C>T)
c.821-25C>T (n.821-25C>T)
n.4525G>A
c.704-25C>T (n.704-25C>T)
c.722-25C>T (n.722-25C>T)
c.512-25C>T (n.512-25C>T)
c.530-25C>T (n.530-25C>T)
 dbSNP
2g.127426061C>TCA2577090357PROCc.536-24C>T (n.536-24C>T)
c.121-2296C>T
c.638-24C>T (n.638-24C>T)
c.479-24C>T (n.479-24C>T)
n.122-24C>T
c.719-24C>T (n.719-24C>T)
c.701-24C>T (n.701-24C>T)
c.599-24C>T (n.599-24C>T)
c.779-24C>T (n.779-24C>T)
c.881-24C>T (n.881-24C>T)
c.821-24C>T (n.821-24C>T)
n.4524G>A
c.704-24C>T (n.704-24C>T)
c.722-24C>T (n.722-24C>T)
c.512-24C>T (n.512-24C>T)
c.530-24C>T (n.530-24C>T)
2g.127426062C=CA1286883386PROCc.536-23C= (n.536-23C=)
c.121-2295C=
c.638-23C= (n.638-23C=)
c.479-23C= (n.479-23C=)
n.122-23C=
c.719-23C= (n.719-23C=)
c.701-23C= (n.701-23C=)
c.599-23C= (n.599-23C=)
c.779-23C= (n.779-23C=)
c.881-23C= (n.881-23C=)
c.821-23C= (n.821-23C=)
n.4523G=
c.704-23C= (n.704-23C=)
c.722-23C= (n.722-23C=)
c.512-23C= (n.512-23C=)
c.530-23C= (n.530-23C=)
2g.127426062C>TCA535639805PROCc.536-23C>T (n.536-23C>T)
c.121-2295C>T
c.638-23C>T (n.638-23C>T)
c.479-23C>T (n.479-23C>T)
n.122-23C>T
c.719-23C>T (n.719-23C>T)
c.701-23C>T (n.701-23C>T)
c.599-23C>T (n.599-23C>T)
c.779-23C>T (n.779-23C>T)
c.881-23C>T (n.881-23C>T)
c.821-23C>T (n.821-23C>T)
n.4523G>A
c.704-23C>T (n.704-23C>T)
c.722-23C>T (n.722-23C>T)
c.512-23C>T (n.512-23C>T)
c.530-23C>T (n.530-23C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.127426063T>CCA1859381PROCc.536-22T>C (n.536-22T>C)
c.121-2294T>C
c.638-22T>C (n.638-22T>C)
c.479-22T>C (n.479-22T>C)
n.122-22T>C
c.719-22T>C (n.719-22T>C)
c.701-22T>C (n.701-22T>C)
c.599-22T>C (n.599-22T>C)
c.779-22T>C (n.779-22T>C)
c.881-22T>C (n.881-22T>C)
c.821-22T>C (n.821-22T>C)
n.4522A>G
c.704-22T>C (n.704-22T>C)
c.722-22T>C (n.722-22T>C)
c.512-22T>C (n.512-22T>C)
c.530-22T>C (n.530-22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127426063T=CA1286883387PROCc.536-22T= (n.536-22T=)
c.121-2294T=
c.638-22T= (n.638-22T=)
c.479-22T= (n.479-22T=)
n.122-22T=
c.719-22T= (n.719-22T=)
c.701-22T= (n.701-22T=)
c.599-22T= (n.599-22T=)
c.779-22T= (n.779-22T=)
c.881-22T= (n.881-22T=)
c.821-22T= (n.821-22T=)
n.4522A=
c.704-22T= (n.704-22T=)
c.722-22T= (n.722-22T=)
c.512-22T= (n.512-22T=)
c.530-22T= (n.530-22T=)
2g.127426064C>TCA2660996879PROCc.536-21C>T (n.536-21C>T)
c.121-2293C>T
c.638-21C>T (n.638-21C>T)
c.479-21C>T (n.479-21C>T)
n.122-21C>T
c.719-21C>T (n.719-21C>T)
c.701-21C>T (n.701-21C>T)
c.599-21C>T (n.599-21C>T)
c.779-21C>T (n.779-21C>T)
c.881-21C>T (n.881-21C>T)
c.821-21C>T (n.821-21C>T)
n.4521G>A
c.704-21C>T (n.704-21C>T)
c.722-21C>T (n.722-21C>T)
c.512-21C>T (n.512-21C>T)
c.530-21C>T (n.530-21C>T)
 gnomAD v4
2g.127426066C>ACA55348189PROCc.536-19C>A (n.536-19C>A)
c.121-2291C>A
c.638-19C>A (n.638-19C>A)
c.479-19C>A (n.479-19C>A)
n.122-19C>A
c.719-19C>A (n.719-19C>A)
c.701-19C>A (n.701-19C>A)
c.599-19C>A (n.599-19C>A)
c.779-19C>A (n.779-19C>A)
c.881-19C>A (n.881-19C>A)
c.821-19C>A (n.821-19C>A)
n.4519G>T
c.704-19C>A (n.704-19C>A)
c.722-19C>A (n.722-19C>A)
c.512-19C>A (n.512-19C>A)
c.530-19C>A (n.530-19C>A)
 dbSNP
2g.127426066C=CA1286883388PROCc.536-19C= (n.536-19C=)
c.121-2291C=
c.638-19C= (n.638-19C=)
c.479-19C= (n.479-19C=)
n.122-19C=
c.719-19C= (n.719-19C=)
c.701-19C= (n.701-19C=)
c.599-19C= (n.599-19C=)
c.779-19C= (n.779-19C=)
c.881-19C= (n.881-19C=)
c.821-19C= (n.821-19C=)
n.4519G=
c.704-19C= (n.704-19C=)
c.722-19C= (n.722-19C=)
c.512-19C= (n.512-19C=)
c.530-19C= (n.530-19C=)
2g.127426066C>TCA2697551021PROCc.536-19C>T (n.536-19C>T)
c.121-2291C>T
c.638-19C>T (n.638-19C>T)
c.479-19C>T (n.479-19C>T)
n.122-19C>T
c.719-19C>T (n.719-19C>T)
c.701-19C>T (n.701-19C>T)
c.599-19C>T (n.599-19C>T)
c.779-19C>T (n.779-19C>T)
c.881-19C>T (n.881-19C>T)
c.821-19C>T (n.821-19C>T)
n.4519G>A
c.704-19C>T (n.704-19C>T)
c.722-19C>T (n.722-19C>T)
c.512-19C>T (n.512-19C>T)
c.530-19C>T (n.530-19C>T)
 ClinVar
2g.127426066_127426068delinsCCACA1286883389PROCc.536-19_536-17delinsCCA (n.536-19_536-17delinsCCA)
c.121-2291_121-2289delinsCCA
c.638-19_638-17delinsCCA (n.638-19_638-17delinsCCA)
c.479-19_479-17delinsCCA (n.479-19_479-17delinsCCA)
n.122-19_122-17delinsCCA
c.719-19_719-17delinsCCA (n.719-19_719-17delinsCCA)
c.701-19_701-17delinsCCA (n.701-19_701-17delinsCCA)
c.599-19_599-17delinsCCA (n.599-19_599-17delinsCCA)
c.779-19_779-17delinsCCA (n.779-19_779-17delinsCCA)
c.881-19_881-17delinsCCA (n.881-19_881-17delinsCCA)
c.821-19_821-17delinsCCA (n.821-19_821-17delinsCCA)
n.4517_4519delinsTGG
c.704-19_704-17delinsCCA (n.704-19_704-17delinsCCA)
c.722-19_722-17delinsCCA (n.722-19_722-17delinsCCA)
c.512-19_512-17delinsCCA (n.512-19_512-17delinsCCA)
c.530-19_530-17delinsCCA (n.530-19_530-17delinsCCA)
2g.127426067C>ACA2660996880PROCc.536-18C>A (n.536-18C>A)
c.121-2290C>A
c.638-18C>A (n.638-18C>A)
c.479-18C>A (n.479-18C>A)
n.122-18C>A
c.719-18C>A (n.719-18C>A)
c.701-18C>A (n.701-18C>A)
c.599-18C>A (n.599-18C>A)
c.779-18C>A (n.779-18C>A)
c.881-18C>A (n.881-18C>A)
c.821-18C>A (n.821-18C>A)
n.4518G>T
c.704-18C>A (n.704-18C>A)
c.722-18C>A (n.722-18C>A)
c.512-18C>A (n.512-18C>A)
c.530-18C>A (n.530-18C>A)
 gnomAD v4
2g.127426068_127426069delCA535639806PROCc.536-17_536-16del (n.536-17_536-16del)
c.121-2289_121-2288del
c.638-17_638-16del (n.638-17_638-16del)
c.479-17_479-16del (n.479-17_479-16del)
n.122-17_122-16del
c.719-17_719-16del (n.719-17_719-16del)
c.701-17_701-16del (n.701-17_701-16del)
c.599-17_599-16del (n.599-17_599-16del)
c.779-17_779-16del (n.779-17_779-16del)
c.881-17_881-16del (n.881-17_881-16del)
c.821-17_821-16del (n.821-17_821-16del)
n.4517_4518del
c.704-17_704-16del (n.704-17_704-16del)
c.722-17_722-16del (n.722-17_722-16del)
c.512-17_512-16del (n.512-17_512-16del)
c.530-17_530-16del (n.530-17_530-16del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127426070C>TCA2660996881PROCc.536-15C>T (n.536-15C>T)
c.121-2287C>T
c.638-15C>T (n.638-15C>T)
c.479-15C>T (n.479-15C>T)
n.122-15C>T
c.719-15C>T (n.719-15C>T)
c.701-15C>T (n.701-15C>T)
c.599-15C>T (n.599-15C>T)
c.779-15C>T (n.779-15C>T)
c.881-15C>T (n.881-15C>T)
c.821-15C>T (n.821-15C>T)
n.4515G>A
c.704-15C>T (n.704-15C>T)
c.722-15C>T (n.722-15C>T)
c.512-15C>T (n.512-15C>T)
c.530-15C>T (n.530-15C>T)
 gnomAD v4
2g.127426076C=CA1286883390PROCc.536-9C= (n.536-9C=)
c.121-2281C=
c.638-9C= (n.638-9C=)
c.479-9C= (n.479-9C=)
n.122-9C=
c.719-9C= (n.719-9C=)
c.701-9C= (n.701-9C=)
c.599-9C= (n.599-9C=)
c.779-9C= (n.779-9C=)
c.881-9C= (n.881-9C=)
c.821-9C= (n.821-9C=)
n.4509G=
c.704-9C= (n.704-9C=)
c.722-9C= (n.722-9C=)
c.512-9C= (n.512-9C=)
c.530-9C= (n.530-9C=)
2g.127426076C>TCA1859382PROCc.536-9C>T (n.536-9C>T)
c.121-2281C>T
c.638-9C>T (n.638-9C>T)
c.479-9C>T (n.479-9C>T)
n.122-9C>T
c.719-9C>T (n.719-9C>T)
c.701-9C>T (n.701-9C>T)
c.599-9C>T (n.599-9C>T)
c.779-9C>T (n.779-9C>T)
c.881-9C>T (n.881-9C>T)
c.821-9C>T (n.821-9C>T)
n.4509G>A
c.704-9C>T (n.704-9C>T)
c.722-9C>T (n.722-9C>T)
c.512-9C>T (n.512-9C>T)
c.530-9C>T (n.530-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127426079C=CA1286883391PROCc.536-6C= (n.536-6C=)
c.121-2278C=
c.638-6C= (n.638-6C=)
c.479-6C= (n.479-6C=)
n.122-6C=
c.719-6C= (n.719-6C=)
c.701-6C= (n.701-6C=)
c.599-6C= (n.599-6C=)
c.779-6C= (n.779-6C=)
c.881-6C= (n.881-6C=)
c.821-6C= (n.821-6C=)
n.4506G=
c.704-6C= (n.704-6C=)
c.722-6C= (n.722-6C=)
c.512-6C= (n.512-6C=)
c.530-6C= (n.530-6C=)
2g.127426079C>TCA1859383PROCc.536-6C>T (n.536-6C>T)
c.121-2278C>T
c.638-6C>T (n.638-6C>T)
c.479-6C>T (n.479-6C>T)
n.122-6C>T
c.719-6C>T (n.719-6C>T)
c.701-6C>T (n.701-6C>T)
c.599-6C>T (n.599-6C>T)
c.779-6C>T (n.779-6C>T)
c.881-6C>T (n.881-6C>T)
c.821-6C>T (n.821-6C>T)
n.4506G>A
c.704-6C>T (n.704-6C>T)
c.722-6C>T (n.722-6C>T)
c.512-6C>T (n.512-6C>T)
c.530-6C>T (n.530-6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426080C>TCA2586969896PROCc.536-5C>T (n.536-5C>T)
c.121-2277C>T
c.638-5C>T (n.638-5C>T)
c.479-5C>T (n.479-5C>T)
n.122-5C>T
c.719-5C>T (n.719-5C>T)
c.701-5C>T (n.701-5C>T)
c.599-5C>T (n.599-5C>T)
c.779-5C>T (n.779-5C>T)
c.881-5C>T (n.881-5C>T)
c.821-5C>T (n.821-5C>T)
n.4505G>A
c.704-5C>T (n.704-5C>T)
c.722-5C>T (n.722-5C>T)
c.512-5C>T (n.512-5C>T)
c.530-5C>T (n.530-5C>T)
2g.127426081T>CCA1859384PROCc.536-4T>C (n.536-4T>C)
c.121-2276T>C
c.638-4T>C (n.638-4T>C)
c.479-4T>C (n.479-4T>C)
n.122-4T>C
c.719-4T>C (n.719-4T>C)
c.701-4T>C (n.701-4T>C)
c.599-4T>C (n.599-4T>C)
c.779-4T>C (n.779-4T>C)
c.881-4T>C (n.881-4T>C)
c.821-4T>C (n.821-4T>C)
n.4504A>G
c.704-4T>C (n.704-4T>C)
c.722-4T>C (n.722-4T>C)
c.512-4T>C (n.512-4T>C)
c.530-4T>C (n.530-4T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127426081T=CA1286883392PROCc.536-4T= (n.536-4T=)
c.121-2276T=
c.638-4T= (n.638-4T=)
c.479-4T= (n.479-4T=)
n.122-4T=
c.719-4T= (n.719-4T=)
c.701-4T= (n.701-4T=)
c.599-4T= (n.599-4T=)
c.779-4T= (n.779-4T=)
c.881-4T= (n.881-4T=)
c.821-4T= (n.821-4T=)
n.4504A=
c.704-4T= (n.704-4T=)
c.722-4T= (n.722-4T=)
c.512-4T= (n.512-4T=)
c.530-4T= (n.530-4T=)
2g.127426082C>TCA2660996882PROCc.536-3C>T (n.536-3C>T)
c.121-2275C>T
c.638-3C>T (n.638-3C>T)
c.479-3C>T (n.479-3C>T)
n.122-3C>T
c.719-3C>T (n.719-3C>T)
c.701-3C>T (n.701-3C>T)
c.599-3C>T (n.599-3C>T)
c.779-3C>T (n.779-3C>T)
c.881-3C>T (n.881-3C>T)
c.821-3C>T (n.821-3C>T)
n.4503G>A
c.704-3C>T (n.704-3C>T)
c.722-3C>T (n.722-3C>T)
c.512-3C>T (n.512-3C>T)
c.530-3C>T (n.530-3C>T)
 gnomAD v4
2g.127426083A>CCA348400907PROCc.536-2A>C (n.536-2A>C)
c.121-2274A>C
c.638-2A>C (n.638-2A>C)
c.479-2A>C (n.479-2A>C)
n.122-2A>C
c.719-2A>C (n.719-2A>C)
c.701-2A>C (n.701-2A>C)
c.599-2A>C (n.599-2A>C)
c.779-2A>C (n.779-2A>C)
c.881-2A>C (n.881-2A>C)
c.821-2A>C (n.821-2A>C)
n.4502T>G
c.704-2A>C (n.704-2A>C)
c.722-2A>C (n.722-2A>C)
c.512-2A>C (n.512-2A>C)
c.530-2A>C (n.530-2A>C)
2g.127426083A>GCA348400910PROCc.536-2A>G (n.536-2A>G)
c.121-2274A>G
c.638-2A>G (n.638-2A>G)
c.479-2A>G (n.479-2A>G)
n.122-2A>G
c.719-2A>G (n.719-2A>G)
c.701-2A>G (n.701-2A>G)
c.599-2A>G (n.599-2A>G)
c.779-2A>G (n.779-2A>G)
c.881-2A>G (n.881-2A>G)
c.821-2A>G (n.821-2A>G)
n.4502T>C
c.704-2A>G (n.704-2A>G)
c.722-2A>G (n.722-2A>G)
c.512-2A>G (n.512-2A>G)
c.530-2A>G (n.530-2A>G)
2g.127426083A>TCA348400912PROCc.536-2A>T (n.536-2A>T)
c.121-2274A>T
c.638-2A>T (n.638-2A>T)
c.479-2A>T (n.479-2A>T)
n.122-2A>T
c.719-2A>T (n.719-2A>T)
c.701-2A>T (n.701-2A>T)
c.599-2A>T (n.599-2A>T)
c.779-2A>T (n.779-2A>T)
c.881-2A>T (n.881-2A>T)
c.821-2A>T (n.821-2A>T)
n.4502T>A
c.704-2A>T (n.704-2A>T)
c.722-2A>T (n.722-2A>T)
c.512-2A>T (n.512-2A>T)
c.530-2A>T (n.530-2A>T)
2g.127426084G>ACA348400914PROCc.536-1G>A (n.536-1G>A)
c.121-2273G>A
c.638-1G>A (n.638-1G>A)
c.479-1G>A (n.479-1G>A)
n.122-1G>A
c.719-1G>A (n.719-1G>A)
c.701-1G>A (n.701-1G>A)
c.599-1G>A (n.599-1G>A)
c.779-1G>A (n.779-1G>A)
c.881-1G>A (n.881-1G>A)
c.821-1G>A (n.821-1G>A)
n.4501C>T
c.704-1G>A (n.704-1G>A)
c.722-1G>A (n.722-1G>A)
c.512-1G>A (n.512-1G>A)
c.530-1G>A (n.530-1G>A)
2g.127426084G>CCA348400917PROCc.536-1G>C (n.536-1G>C)
c.121-2273G>C
c.638-1G>C (n.638-1G>C)
c.479-1G>C (n.479-1G>C)
n.122-1G>C
c.719-1G>C (n.719-1G>C)
c.701-1G>C (n.701-1G>C)
c.599-1G>C (n.599-1G>C)
c.779-1G>C (n.779-1G>C)
c.881-1G>C (n.881-1G>C)
c.821-1G>C (n.821-1G>C)
n.4501C>G
c.704-1G>C (n.704-1G>C)
c.722-1G>C (n.722-1G>C)
c.512-1G>C (n.512-1G>C)
c.530-1G>C (n.530-1G>C)
2g.127426084G>TCA348400919PROCc.536-1G>T (n.536-1G>T)
c.121-2273G>T
c.638-1G>T (n.638-1G>T)
c.479-1G>T (n.479-1G>T)
n.122-1G>T
c.719-1G>T (n.719-1G>T)
c.701-1G>T (n.701-1G>T)
c.599-1G>T (n.599-1G>T)
c.779-1G>T (n.779-1G>T)
c.881-1G>T (n.881-1G>T)
c.821-1G>T (n.821-1G>T)
n.4501C>A
c.704-1G>T (n.704-1G>T)
c.722-1G>T (n.722-1G>T)
c.512-1G>T (n.512-1G>T)
c.530-1G>T (n.530-1G>T)
2g.127426085T>ACA348400922PROCc.536T>A (p.Val179Glu)
c.121-2272T>A
c.638T>A (p.Val213Glu)
c.479T>A (p.Val160Glu)
n.122T>A
c.719T>A (p.Val240Glu)
c.701T>A (p.Val234Glu)
c.599T>A (p.Val200Glu)
c.779T>A (p.Val260Glu)
c.881T>A (p.Val294Glu)
c.821T>A (p.Val274Glu)
n.4500A>T
c.704T>A (p.Val235Glu)
c.722T>A (p.Val241Glu)
c.512T>A (p.Val171Glu)
c.530T>A (p.Val177Glu)
2g.127426085T>CCA348400925PROCc.536T>C (p.Val179Ala)
c.121-2272T>C
c.638T>C (p.Val213Ala)
c.479T>C (p.Val160Ala)
n.122T>C
c.719T>C (p.Val240Ala)
c.701T>C (p.Val234Ala)
c.599T>C (p.Val200Ala)
c.779T>C (p.Val260Ala)
c.881T>C (p.Val294Ala)
c.821T>C (p.Val274Ala)
n.4500A>G
c.704T>C (p.Val235Ala)
c.722T>C (p.Val241Ala)
c.512T>C (p.Val171Ala)
c.530T>C (p.Val177Ala)
2g.127426085T>GCA348400927PROCc.536T>G (p.Val179Gly)
c.121-2272T>G
c.638T>G (p.Val213Gly)
c.479T>G (p.Val160Gly)
n.122T>G
c.719T>G (p.Val240Gly)
c.701T>G (p.Val234Gly)
c.599T>G (p.Val200Gly)
c.779T>G (p.Val260Gly)
c.881T>G (p.Val294Gly)
c.821T>G (p.Val274Gly)
n.4500A>C
c.704T>G (p.Val235Gly)
c.722T>G (p.Val241Gly)
c.512T>G (p.Val171Gly)
c.530T>G (p.Val177Gly)
2g.127426086G>ACA428618167PROCc.537G>A (p.Val179=)
c.121-2271G>A
c.639G>A (p.Val213=)
c.480G>A (p.Val160=)
n.123G>A
c.720G>A (p.Val240=)
c.702G>A (p.Val234=)
c.600G>A (p.Val200=)
c.780G>A (p.Val260=)
c.882G>A (p.Val294=)
c.822G>A (p.Val274=)
n.4499C>T
c.705G>A (p.Val235=)
c.723G>A (p.Val241=)
c.513G>A (p.Val171=)
c.531G>A (p.Val177=)
2g.127426086G>CCA428618169PROCc.537G>C (p.Val179=)
c.121-2271G>C
c.639G>C (p.Val213=)
c.480G>C (p.Val160=)
n.123G>C
c.720G>C (p.Val240=)
c.702G>C (p.Val234=)
c.600G>C (p.Val200=)
c.780G>C (p.Val260=)
c.882G>C (p.Val294=)
c.822G>C (p.Val274=)
n.4499C>G
c.705G>C (p.Val235=)
c.723G>C (p.Val241=)
c.513G>C (p.Val171=)
c.531G>C (p.Val177=)
2g.127426086G>TCA428618171PROCc.537G>T (p.Val179=)
c.121-2271G>T
c.639G>T (p.Val213=)
c.480G>T (p.Val160=)
n.123G>T
c.720G>T (p.Val240=)
c.702G>T (p.Val234=)
c.600G>T (p.Val200=)
c.780G>T (p.Val260=)
c.882G>T (p.Val294=)
c.822G>T (p.Val274=)
n.4499C>A
c.705G>T (p.Val235=)
c.723G>T (p.Val241=)
c.513G>T (p.Val171=)
c.531G>T (p.Val177=)
 gnomAD v4
2g.127426087A=CA1286883393PROCc.538A= (p.Lys180=)
c.121-2270A=
c.640A= (p.Lys214=)
c.481A= (p.Lys161=)
n.124A=
c.721A= (p.Lys241=)
c.703A= (p.Lys235=)
c.601A= (p.Lys201=)
c.781A= (p.Lys261=)
c.883A= (p.Lys295=)
c.823A= (p.Lys275=)
n.4498T=
c.706A= (p.Lys236=)
c.724A= (p.Lys242=)
c.514A= (p.Lys172=)
c.532A= (p.Lys178=)
2g.127426087A>CCA55348198PROCc.538A>C (p.Lys180Gln)
c.121-2270A>C
c.640A>C (p.Lys214Gln)
c.481A>C (p.Lys161Gln)
n.124A>C
c.721A>C (p.Lys241Gln)
c.703A>C (p.Lys235Gln)
c.601A>C (p.Lys201Gln)
c.781A>C (p.Lys261Gln)
c.883A>C (p.Lys295Gln)
c.823A>C (p.Lys275Gln)
n.4498T>G
c.706A>C (p.Lys236Gln)
c.724A>C (p.Lys242Gln)
c.514A>C (p.Lys172Gln)
c.532A>C (p.Lys178Gln)
 dbSNP
2g.127426087A>GCA348400935PROCc.538A>G (p.Lys180Glu)
c.121-2270A>G
c.640A>G (p.Lys214Glu)
c.481A>G (p.Lys161Glu)
n.124A>G
c.721A>G (p.Lys241Glu)
c.703A>G (p.Lys235Glu)
c.601A>G (p.Lys201Glu)
c.781A>G (p.Lys261Glu)
c.883A>G (p.Lys295Glu)
c.823A>G (p.Lys275Glu)
n.4498T>C
c.706A>G (p.Lys236Glu)
c.724A>G (p.Lys242Glu)
c.514A>G (p.Lys172Glu)
c.532A>G (p.Lys178Glu)
2g.127426087A>TCA348400930PROCc.538A>T (p.Lys180Ter)
c.121-2270A>T
c.640A>T (p.Lys214Ter)
c.481A>T (p.Lys161Ter)
n.124A>T
c.721A>T (p.Lys241Ter)
c.703A>T (p.Lys235Ter)
c.601A>T (p.Lys201Ter)
c.781A>T (p.Lys261Ter)
c.883A>T (p.Lys295Ter)
c.823A>T (p.Lys275Ter)
n.4498T>A
c.706A>T (p.Lys236Ter)
c.724A>T (p.Lys242Ter)
c.514A>T (p.Lys172Ter)
c.532A>T (p.Lys178Ter)
2g.127426088A>CCA348400938PROCc.539A>C (p.Lys180Thr)
c.121-2269A>C
c.641A>C (p.Lys214Thr)
c.482A>C (p.Lys161Thr)
n.125A>C
c.722A>C (p.Lys241Thr)
c.704A>C (p.Lys235Thr)
c.602A>C (p.Lys201Thr)
c.782A>C (p.Lys261Thr)
c.884A>C (p.Lys295Thr)
c.824A>C (p.Lys275Thr)
n.4497T>G
c.707A>C (p.Lys236Thr)
c.725A>C (p.Lys242Thr)
c.515A>C (p.Lys172Thr)
c.533A>C (p.Lys178Thr)
2g.127426088A>GCA348400941PROCc.539A>G (p.Lys180Arg)
c.121-2269A>G
c.641A>G (p.Lys214Arg)
c.482A>G (p.Lys161Arg)
n.125A>G
c.722A>G (p.Lys241Arg)
c.704A>G (p.Lys235Arg)
c.602A>G (p.Lys201Arg)
c.782A>G (p.Lys261Arg)
c.884A>G (p.Lys295Arg)
c.824A>G (p.Lys275Arg)
n.4497T>C
c.707A>G (p.Lys236Arg)
c.725A>G (p.Lys242Arg)
c.515A>G (p.Lys172Arg)
c.533A>G (p.Lys178Arg)
2g.127426088A>TCA348400943PROCc.539A>T (p.Lys180Met)
c.121-2269A>T
c.641A>T (p.Lys214Met)
c.482A>T (p.Lys161Met)
n.125A>T
c.722A>T (p.Lys241Met)
c.704A>T (p.Lys235Met)
c.602A>T (p.Lys201Met)
c.782A>T (p.Lys261Met)
c.884A>T (p.Lys295Met)
c.824A>T (p.Lys275Met)
n.4497T>A
c.707A>T (p.Lys236Met)
c.725A>T (p.Lys242Met)
c.515A>T (p.Lys172Met)
c.533A>T (p.Lys178Met)
2g.127426089G>ACA428618175PROCc.540G>A (p.Lys180=)
c.121-2268G>A
c.642G>A (p.Lys214=)
c.483G>A (p.Lys161=)
n.126G>A
c.723G>A (p.Lys241=)
c.705G>A (p.Lys235=)
c.603G>A (p.Lys201=)
c.783G>A (p.Lys261=)
c.885G>A (p.Lys295=)
c.825G>A (p.Lys275=)
n.4496C>T
c.708G>A (p.Lys236=)
c.726G>A (p.Lys242=)
c.516G>A (p.Lys172=)
c.534G>A (p.Lys178=)
 dbSNP
2g.127426089G>CCA348400946PROCc.540G>C (p.Lys180Asn)
c.121-2268G>C
c.642G>C (p.Lys214Asn)
c.483G>C (p.Lys161Asn)
n.126G>C
c.723G>C (p.Lys241Asn)
c.705G>C (p.Lys235Asn)
c.603G>C (p.Lys201Asn)
c.783G>C (p.Lys261Asn)
c.885G>C (p.Lys295Asn)
c.825G>C (p.Lys275Asn)
n.4496C>G
c.708G>C (p.Lys236Asn)
c.726G>C (p.Lys242Asn)
c.516G>C (p.Lys172Asn)
c.534G>C (p.Lys178Asn)
2g.127426089G=CA1286883394PROCc.540G= (p.Lys180=)
c.121-2268G=
c.642G= (p.Lys214=)
c.483G= (p.Lys161=)
n.126G=
c.723G= (p.Lys241=)
c.705G= (p.Lys235=)
c.603G= (p.Lys201=)
c.783G= (p.Lys261=)
c.885G= (p.Lys295=)
c.825G= (p.Lys275=)
n.4496C=
c.708G= (p.Lys236=)
c.726G= (p.Lys242=)
c.516G= (p.Lys172=)
c.534G= (p.Lys178=)
2g.127426089G>TCA348400949PROCc.540G>T (p.Lys180Asn)
c.121-2268G>T
c.642G>T (p.Lys214Asn)
c.483G>T (p.Lys161Asn)
n.126G>T
c.723G>T (p.Lys241Asn)
c.705G>T (p.Lys235Asn)
c.603G>T (p.Lys201Asn)
c.783G>T (p.Lys261Asn)
c.885G>T (p.Lys295Asn)
c.825G>T (p.Lys275Asn)
n.4496C>A
c.708G>T (p.Lys236Asn)
c.726G>T (p.Lys242Asn)
c.516G>T (p.Lys172Asn)
c.534G>T (p.Lys178Asn)
2g.127426090T>ACA348400952PROCc.541T>A (p.Phe181Ile)
c.121-2267T>A
c.643T>A (p.Phe215Ile)
c.484T>A (p.Phe162Ile)
n.127T>A
c.724T>A (p.Phe242Ile)
c.706T>A (p.Phe236Ile)
c.604T>A (p.Phe202Ile)
c.784T>A (p.Phe262Ile)
c.886T>A (p.Phe296Ile)
c.826T>A (p.Phe276Ile)
n.4495A>T
c.709T>A (p.Phe237Ile)
c.727T>A (p.Phe243Ile)
c.517T>A (p.Phe173Ile)
c.535T>A (p.Phe179Ile)
2g.127426090T>CCA348400954PROCc.541T>C (p.Phe181Leu)
c.121-2267T>C
c.643T>C (p.Phe215Leu)
c.484T>C (p.Phe162Leu)
n.127T>C
c.724T>C (p.Phe242Leu)
c.706T>C (p.Phe236Leu)
c.604T>C (p.Phe202Leu)
c.784T>C (p.Phe262Leu)
c.886T>C (p.Phe296Leu)
c.826T>C (p.Phe276Leu)
n.4495A>G
c.709T>C (p.Phe237Leu)
c.727T>C (p.Phe243Leu)
c.517T>C (p.Phe173Leu)
c.535T>C (p.Phe179Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127426090T>GCA1859385PROCc.541T>G (p.Phe181Val)
c.121-2267T>G
c.643T>G (p.Phe215Val)
c.484T>G (p.Phe162Val)
n.127T>G
c.724T>G (p.Phe242Val)
c.706T>G (p.Phe236Val)
c.604T>G (p.Phe202Val)
c.784T>G (p.Phe262Val)
c.886T>G (p.Phe296Val)
c.826T>G (p.Phe276Val)
n.4495A>C
c.709T>G (p.Phe237Val)
c.727T>G (p.Phe243Val)
c.517T>G (p.Phe173Val)
c.535T>G (p.Phe179Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426090T=CA1286883395PROCc.541T= (p.Phe181=)
c.121-2267T=
c.643T= (p.Phe215=)
c.484T= (p.Phe162=)
n.127T=
c.724T= (p.Phe242=)
c.706T= (p.Phe236=)
c.604T= (p.Phe202=)
c.784T= (p.Phe262=)
c.886T= (p.Phe296=)
c.826T= (p.Phe276=)
n.4495A=
c.709T= (p.Phe237=)
c.727T= (p.Phe243=)
c.517T= (p.Phe173=)
c.535T= (p.Phe179=)
2g.127426091T>ACA348400959PROCc.542T>A (p.Phe181Tyr)
c.121-2266T>A
c.644T>A (p.Phe215Tyr)
c.485T>A (p.Phe162Tyr)
n.128T>A
c.725T>A (p.Phe242Tyr)
c.707T>A (p.Phe236Tyr)
c.605T>A (p.Phe202Tyr)
c.785T>A (p.Phe262Tyr)
c.887T>A (p.Phe296Tyr)
c.827T>A (p.Phe276Tyr)
n.4494A>T
c.710T>A (p.Phe237Tyr)
c.728T>A (p.Phe243Tyr)
c.518T>A (p.Phe173Tyr)
c.536T>A (p.Phe179Tyr)
 dbSNP
2g.127426091T>CCA348400962PROCc.542T>C (p.Phe181Ser)
c.121-2266T>C
c.644T>C (p.Phe215Ser)
c.485T>C (p.Phe162Ser)
n.128T>C
c.725T>C (p.Phe242Ser)
c.707T>C (p.Phe236Ser)
c.605T>C (p.Phe202Ser)
c.785T>C (p.Phe262Ser)
c.887T>C (p.Phe296Ser)
c.827T>C (p.Phe276Ser)
n.4494A>G
c.710T>C (p.Phe237Ser)
c.728T>C (p.Phe243Ser)
c.518T>C (p.Phe173Ser)
c.536T>C (p.Phe179Ser)
2g.127426091T>GCA348400965PROCc.542T>G (p.Phe181Cys)
c.121-2266T>G
c.644T>G (p.Phe215Cys)
c.485T>G (p.Phe162Cys)
n.128T>G
c.725T>G (p.Phe242Cys)
c.707T>G (p.Phe236Cys)
c.605T>G (p.Phe202Cys)
c.785T>G (p.Phe262Cys)
c.887T>G (p.Phe296Cys)
c.827T>G (p.Phe276Cys)
n.4494A>C
c.710T>G (p.Phe237Cys)
c.728T>G (p.Phe243Cys)
c.518T>G (p.Phe173Cys)
c.536T>G (p.Phe179Cys)
2g.127426091T=CA1286883396PROCc.542T= (p.Phe181=)
c.121-2266T=
c.644T= (p.Phe215=)
c.485T= (p.Phe162=)
n.128T=
c.725T= (p.Phe242=)
c.707T= (p.Phe236=)
c.605T= (p.Phe202=)
c.785T= (p.Phe262=)
c.887T= (p.Phe296=)
c.827T= (p.Phe276=)
n.4494A=
c.710T= (p.Phe237=)
c.728T= (p.Phe243=)
c.518T= (p.Phe173=)
c.536T= (p.Phe179=)
2g.127426092C>ACA348400967PROCc.543C>A (p.Phe181Leu)
c.121-2265C>A
c.645C>A (p.Phe215Leu)
c.486C>A (p.Phe162Leu)
n.129C>A
c.726C>A (p.Phe242Leu)
c.708C>A (p.Phe236Leu)
c.606C>A (p.Phe202Leu)
c.786C>A (p.Phe262Leu)
c.888C>A (p.Phe296Leu)
c.828C>A (p.Phe276Leu)
n.4493G>T
c.711C>A (p.Phe237Leu)
c.729C>A (p.Phe243Leu)
c.519C>A (p.Phe173Leu)
c.537C>A (p.Phe179Leu)
2g.127426092C>GCA348400969PROCc.543C>G (p.Phe181Leu)
c.121-2265C>G
c.645C>G (p.Phe215Leu)
c.486C>G (p.Phe162Leu)
n.129C>G
c.726C>G (p.Phe242Leu)
c.708C>G (p.Phe236Leu)
c.606C>G (p.Phe202Leu)
c.786C>G (p.Phe262Leu)
c.888C>G (p.Phe296Leu)
c.828C>G (p.Phe276Leu)
n.4493G>C
c.711C>G (p.Phe237Leu)
c.729C>G (p.Phe243Leu)
c.519C>G (p.Phe173Leu)
c.537C>G (p.Phe179Leu)
2g.127426092C>TCA428618177PROCc.543C>T (p.Phe181=)
c.121-2265C>T
c.645C>T (p.Phe215=)
c.486C>T (p.Phe162=)
n.129C>T
c.726C>T (p.Phe242=)
c.708C>T (p.Phe236=)
c.606C>T (p.Phe202=)
c.786C>T (p.Phe262=)
c.888C>T (p.Phe296=)
c.828C>T (p.Phe276=)
n.4493G>A
c.711C>T (p.Phe237=)
c.729C>T (p.Phe243=)
c.519C>T (p.Phe173=)
c.537C>T (p.Phe179=)
 COSMIC COSMIC
2g.127426093C>ACA348400978PROCc.544C>A (p.Pro182Thr)
c.121-2264C>A
c.646C>A (p.Pro216Thr)
c.487C>A (p.Pro163Thr)
n.130C>A
c.727C>A (p.Pro243Thr)
c.709C>A (p.Pro237Thr)
c.607C>A (p.Pro203Thr)
c.787C>A (p.Pro263Thr)
c.889C>A (p.Pro297Thr)
c.829C>A (p.Pro277Thr)
n.4492G>T
c.712C>A (p.Pro238Thr)
c.730C>A (p.Pro244Thr)
c.520C>A (p.Pro174Thr)
c.538C>A (p.Pro180Thr)
2g.127426093C=CA1286883397PROCc.544C= (p.Pro182=)
c.121-2264C=
c.646C= (p.Pro216=)
c.487C= (p.Pro163=)
n.130C=
c.727C= (p.Pro243=)
c.709C= (p.Pro237=)
c.607C= (p.Pro203=)
c.787C= (p.Pro263=)
c.889C= (p.Pro297=)
c.829C= (p.Pro277=)
n.4492G=
c.712C= (p.Pro238=)
c.730C= (p.Pro244=)
c.520C= (p.Pro174=)
c.538C= (p.Pro180=)
2g.127426093C>GCA348400974PROCc.544C>G (p.Pro182Ala)
c.121-2264C>G
c.646C>G (p.Pro216Ala)
c.487C>G (p.Pro163Ala)
n.130C>G
c.727C>G (p.Pro243Ala)
c.709C>G (p.Pro237Ala)
c.607C>G (p.Pro203Ala)
c.787C>G (p.Pro263Ala)
c.889C>G (p.Pro297Ala)
c.829C>G (p.Pro277Ala)
n.4492G>C
c.712C>G (p.Pro238Ala)
c.730C>G (p.Pro244Ala)
c.520C>G (p.Pro174Ala)
c.538C>G (p.Pro180Ala)
2g.127426093C>TCA348400972PROCc.544C>T (p.Pro182Ser)
c.121-2264C>T
c.646C>T (p.Pro216Ser)
c.487C>T (p.Pro163Ser)
n.130C>T
c.727C>T (p.Pro243Ser)
c.709C>T (p.Pro237Ser)
c.607C>T (p.Pro203Ser)
c.787C>T (p.Pro263Ser)
c.889C>T (p.Pro297Ser)
c.829C>T (p.Pro277Ser)
n.4492G>A
c.712C>T (p.Pro238Ser)
c.730C>T (p.Pro244Ser)
c.520C>T (p.Pro174Ser)
c.538C>T (p.Pro180Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.127426094C>ACA348400982PROCc.545C>A (p.Pro182His)
c.121-2263C>A
c.647C>A (p.Pro216His)
c.488C>A (p.Pro163His)
n.131C>A
c.728C>A (p.Pro243His)
c.710C>A (p.Pro237His)
c.608C>A (p.Pro203His)
c.788C>A (p.Pro263His)
c.890C>A (p.Pro297His)
c.830C>A (p.Pro277His)
n.4491G>T
c.713C>A (p.Pro238His)
c.731C>A (p.Pro244His)
c.521C>A (p.Pro174His)
c.539C>A (p.Pro180His)
2g.127426094C>GCA348400984PROCc.545C>G (p.Pro182Arg)
c.121-2263C>G
c.647C>G (p.Pro216Arg)
c.488C>G (p.Pro163Arg)
n.131C>G
c.728C>G (p.Pro243Arg)
c.710C>G (p.Pro237Arg)
c.608C>G (p.Pro203Arg)
c.788C>G (p.Pro263Arg)
c.890C>G (p.Pro297Arg)
c.830C>G (p.Pro277Arg)
n.4491G>C
c.713C>G (p.Pro238Arg)
c.731C>G (p.Pro244Arg)
c.521C>G (p.Pro174Arg)
c.539C>G (p.Pro180Arg)
2g.127426094C>TCA348400986PROCc.545C>T (p.Pro182Leu)
c.121-2263C>T
c.647C>T (p.Pro216Leu)
c.488C>T (p.Pro163Leu)
n.131C>T
c.728C>T (p.Pro243Leu)
c.710C>T (p.Pro237Leu)
c.608C>T (p.Pro203Leu)
c.788C>T (p.Pro263Leu)
c.890C>T (p.Pro297Leu)
c.830C>T (p.Pro277Leu)
n.4491G>A
c.713C>T (p.Pro238Leu)
c.731C>T (p.Pro244Leu)
c.521C>T (p.Pro174Leu)
c.539C>T (p.Pro180Leu)
2g.127426095T>ACA428618179PROCc.546T>A (p.Pro182=)
c.121-2262T>A
c.648T>A (p.Pro216=)
c.489T>A (p.Pro163=)
n.132T>A
c.729T>A (p.Pro243=)
c.711T>A (p.Pro237=)
c.609T>A (p.Pro203=)
c.789T>A (p.Pro263=)
c.891T>A (p.Pro297=)
c.831T>A (p.Pro277=)
n.4490A>T
c.714T>A (p.Pro238=)
c.732T>A (p.Pro244=)
c.522T>A (p.Pro174=)
c.540T>A (p.Pro180=)
2g.127426095T>CCA428618181PROCc.546T>C (p.Pro182=)
c.121-2262T>C
c.648T>C (p.Pro216=)
c.489T>C (p.Pro163=)
n.132T>C
c.729T>C (p.Pro243=)
c.711T>C (p.Pro237=)
c.609T>C (p.Pro203=)
c.789T>C (p.Pro263=)
c.891T>C (p.Pro297=)
c.831T>C (p.Pro277=)
n.4490A>G
c.714T>C (p.Pro238=)
c.732T>C (p.Pro244=)
c.522T>C (p.Pro174=)
c.540T>C (p.Pro180=)
 dbSNP gnomAD v4
2g.127426095T>GCA428618180PROCc.546T>G (p.Pro182=)
c.121-2262T>G
c.648T>G (p.Pro216=)
c.489T>G (p.Pro163=)
n.132T>G
c.729T>G (p.Pro243=)
c.711T>G (p.Pro237=)
c.609T>G (p.Pro203=)
c.789T>G (p.Pro263=)
c.891T>G (p.Pro297=)
c.831T>G (p.Pro277=)
n.4490A>C
c.714T>G (p.Pro238=)
c.732T>G (p.Pro244=)
c.522T>G (p.Pro174=)
c.540T>G (p.Pro180=)
2g.127426095T=CA1286883398PROCc.546T= (p.Pro182=)
c.121-2262T=
c.648T= (p.Pro216=)
c.489T= (p.Pro163=)
n.132T=
c.729T= (p.Pro243=)
c.711T= (p.Pro237=)
c.609T= (p.Pro203=)
c.789T= (p.Pro263=)
c.891T= (p.Pro297=)
c.831T= (p.Pro277=)
n.4490A=
c.714T= (p.Pro238=)
c.732T= (p.Pro244=)
c.522T= (p.Pro174=)
c.540T= (p.Pro180=)
2g.127426096T>ACA348400989PROCc.547T>A (p.Cys183Ser)
c.121-2261T>A
c.649T>A (p.Cys217Ser)
c.490T>A (p.Cys164Ser)
n.133T>A
c.730T>A (p.Cys244Ser)
c.712T>A (p.Cys238Ser)
c.610T>A (p.Cys204Ser)
c.790T>A (p.Cys264Ser)
c.892T>A (p.Cys298Ser)
c.832T>A (p.Cys278Ser)
n.4489A>T
c.715T>A (p.Cys239Ser)
c.733T>A (p.Cys245Ser)
c.523T>A (p.Cys175Ser)
c.541T>A (p.Cys181Ser)
2g.127426096T>CCA1859386PROCc.547T>C (p.Cys183Arg)
c.121-2261T>C
c.649T>C (p.Cys217Arg)
c.490T>C (p.Cys164Arg)
n.133T>C
c.730T>C (p.Cys244Arg)
c.712T>C (p.Cys238Arg)
c.610T>C (p.Cys204Arg)
c.790T>C (p.Cys264Arg)
c.892T>C (p.Cys298Arg)
c.832T>C (p.Cys278Arg)
n.4489A>G
c.715T>C (p.Cys239Arg)
c.733T>C (p.Cys245Arg)
c.523T>C (p.Cys175Arg)
c.541T>C (p.Cys181Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127426096T>GCA348400990PROCc.547T>G (p.Cys183Gly)
c.121-2261T>G
c.649T>G (p.Cys217Gly)
c.490T>G (p.Cys164Gly)
n.133T>G
c.730T>G (p.Cys244Gly)
c.712T>G (p.Cys238Gly)
c.610T>G (p.Cys204Gly)
c.790T>G (p.Cys264Gly)
c.892T>G (p.Cys298Gly)
c.832T>G (p.Cys278Gly)
n.4489A>C
c.715T>G (p.Cys239Gly)
c.733T>G (p.Cys245Gly)
c.523T>G (p.Cys175Gly)
c.541T>G (p.Cys181Gly)
2g.127426096T=CA1286883399PROCc.547T= (p.Cys183=)
c.121-2261T=
c.649T= (p.Cys217=)
c.490T= (p.Cys164=)
n.133T=
c.730T= (p.Cys244=)
c.712T= (p.Cys238=)
c.610T= (p.Cys204=)
c.790T= (p.Cys264=)
c.892T= (p.Cys298=)
c.832T= (p.Cys278=)
n.4489A=
c.715T= (p.Cys239=)
c.733T= (p.Cys245=)
c.523T= (p.Cys175=)
c.541T= (p.Cys181=)
2g.127426097G>ACA348400994PROCc.548G>A (p.Cys183Tyr)
c.121-2260G>A
c.650G>A (p.Cys217Tyr)
c.491G>A (p.Cys164Tyr)
n.134G>A
c.731G>A (p.Cys244Tyr)
c.713G>A (p.Cys238Tyr)
c.611G>A (p.Cys204Tyr)
c.791G>A (p.Cys264Tyr)
c.893G>A (p.Cys298Tyr)
c.833G>A (p.Cys278Tyr)
n.4488C>T
c.716G>A (p.Cys239Tyr)
c.734G>A (p.Cys245Tyr)
c.524G>A (p.Cys175Tyr)
c.542G>A (p.Cys181Tyr)
2g.127426097G>CCA348400996PROCc.548G>C (p.Cys183Ser)
c.121-2260G>C
c.650G>C (p.Cys217Ser)
c.491G>C (p.Cys164Ser)
n.134G>C
c.731G>C (p.Cys244Ser)
c.713G>C (p.Cys238Ser)
c.611G>C (p.Cys204Ser)
c.791G>C (p.Cys264Ser)
c.893G>C (p.Cys298Ser)
c.833G>C (p.Cys278Ser)
n.4488C>G
c.716G>C (p.Cys239Ser)
c.734G>C (p.Cys245Ser)
c.524G>C (p.Cys175Ser)
c.542G>C (p.Cys181Ser)
2g.127426097G=CA1286883400PROCc.548G= (p.Cys183=)
c.121-2260G=
c.650G= (p.Cys217=)
c.491G= (p.Cys164=)
n.134G=
c.731G= (p.Cys244=)
c.713G= (p.Cys238=)
c.611G= (p.Cys204=)
c.791G= (p.Cys264=)
c.893G= (p.Cys298=)
c.833G= (p.Cys278=)
n.4488C=
c.716G= (p.Cys239=)
c.734G= (p.Cys245=)
c.524G= (p.Cys175=)
c.542G= (p.Cys181=)
2g.127426097G>TCA348400999PROCc.548G>T (p.Cys183Phe)
c.121-2260G>T
c.650G>T (p.Cys217Phe)
c.491G>T (p.Cys164Phe)
n.134G>T
c.731G>T (p.Cys244Phe)
c.713G>T (p.Cys238Phe)
c.611G>T (p.Cys204Phe)
c.791G>T (p.Cys264Phe)
c.893G>T (p.Cys298Phe)
c.833G>T (p.Cys278Phe)
n.4488C>A
c.716G>T (p.Cys239Phe)
c.734G>T (p.Cys245Phe)
c.524G>T (p.Cys175Phe)
c.542G>T (p.Cys181Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127426098T>ACA348401002PROCc.549T>A (p.Cys183Ter)
c.121-2259T>A
c.651T>A (p.Cys217Ter)
c.492T>A (p.Cys164Ter)
n.135T>A
c.732T>A (p.Cys244Ter)
c.714T>A (p.Cys238Ter)
c.612T>A (p.Cys204Ter)
c.792T>A (p.Cys264Ter)
c.894T>A (p.Cys298Ter)
c.834T>A (p.Cys278Ter)
n.4487A>T
c.717T>A (p.Cys239Ter)
c.735T>A (p.Cys245Ter)
c.525T>A (p.Cys175Ter)
c.543T>A (p.Cys181Ter)
 COSMIC COSMIC
2g.127426098T>CCA428618183PROCc.549T>C (p.Cys183=)
c.121-2259T>C
c.651T>C (p.Cys217=)
c.492T>C (p.Cys164=)
n.135T>C
c.732T>C (p.Cys244=)
c.714T>C (p.Cys238=)
c.612T>C (p.Cys204=)
c.792T>C (p.Cys264=)
c.894T>C (p.Cys298=)
c.834T>C (p.Cys278=)
n.4487A>G
c.717T>C (p.Cys239=)
c.735T>C (p.Cys245=)
c.525T>C (p.Cys175=)
c.543T>C (p.Cys181=)
2g.127426098T>GCA348401005PROCc.549T>G (p.Cys183Trp)
c.121-2259T>G
c.651T>G (p.Cys217Trp)
c.492T>G (p.Cys164Trp)
n.135T>G
c.732T>G (p.Cys244Trp)
c.714T>G (p.Cys238Trp)
c.612T>G (p.Cys204Trp)
c.792T>G (p.Cys264Trp)
c.894T>G (p.Cys298Trp)
c.834T>G (p.Cys278Trp)
n.4487A>C
c.717T>G (p.Cys239Trp)
c.735T>G (p.Cys245Trp)
c.525T>G (p.Cys175Trp)
c.543T>G (p.Cys181Trp)
2g.127426099G>ACA348401008PROCc.550G>A (p.Gly184Arg)
c.121-2258G>A
c.652G>A (p.Gly218Arg)
c.493G>A (p.Gly165Arg)
n.136G>A
c.733G>A (p.Gly245Arg)
c.715G>A (p.Gly239Arg)
c.613G>A (p.Gly205Arg)
c.793G>A (p.Gly265Arg)
c.895G>A (p.Gly299Arg)
c.835G>A (p.Gly279Arg)
n.4486C>T
c.718G>A (p.Gly240Arg)
c.736G>A (p.Gly246Arg)
c.526G>A (p.Gly176Arg)
c.544G>A (p.Gly182Arg)
2g.127426099G>CCA348401011PROCc.550G>C (p.Gly184Arg)
c.121-2258G>C
c.652G>C (p.Gly218Arg)
c.493G>C (p.Gly165Arg)
n.136G>C
c.733G>C (p.Gly245Arg)
c.715G>C (p.Gly239Arg)
c.613G>C (p.Gly205Arg)
c.793G>C (p.Gly265Arg)
c.895G>C (p.Gly299Arg)
c.835G>C (p.Gly279Arg)
n.4486C>G
c.718G>C (p.Gly240Arg)
c.736G>C (p.Gly246Arg)
c.526G>C (p.Gly176Arg)
c.544G>C (p.Gly182Arg)
2g.127426099G>TCA348401013PROCc.550G>T (p.Gly184Trp)
c.121-2258G>T
c.652G>T (p.Gly218Trp)
c.493G>T (p.Gly165Trp)
n.136G>T
c.733G>T (p.Gly245Trp)
c.715G>T (p.Gly239Trp)
c.613G>T (p.Gly205Trp)
c.793G>T (p.Gly265Trp)
c.895G>T (p.Gly299Trp)
c.835G>T (p.Gly279Trp)
n.4486C>A
c.718G>T (p.Gly240Trp)
c.736G>T (p.Gly246Trp)
c.526G>T (p.Gly176Trp)
c.544G>T (p.Gly182Trp)
2g.127426100G>ACA348401017PROCc.551G>A (p.Gly184Glu)
c.121-2257G>A
c.653G>A (p.Gly218Glu)
c.494G>A (p.Gly165Glu)
n.137G>A
c.734G>A (p.Gly245Glu)
c.716G>A (p.Gly239Glu)
c.614G>A (p.Gly205Glu)
c.794G>A (p.Gly265Glu)
c.896G>A (p.Gly299Glu)
c.836G>A (p.Gly279Glu)
n.4485C>T
c.719G>A (p.Gly240Glu)
c.737G>A (p.Gly246Glu)
c.527G>A (p.Gly176Glu)
c.545G>A (p.Gly182Glu)
2g.127426100G>CCA348401019PROCc.551G>C (p.Gly184Ala)
c.121-2257G>C
c.653G>C (p.Gly218Ala)
c.494G>C (p.Gly165Ala)
n.137G>C
c.734G>C (p.Gly245Ala)
c.716G>C (p.Gly239Ala)
c.614G>C (p.Gly205Ala)
c.794G>C (p.Gly265Ala)
c.896G>C (p.Gly299Ala)
c.836G>C (p.Gly279Ala)
n.4485C>G
c.719G>C (p.Gly240Ala)
c.737G>C (p.Gly246Ala)
c.527G>C (p.Gly176Ala)
c.545G>C (p.Gly182Ala)
2g.127426100G>TCA348401015PROCc.551G>T (p.Gly184Val)
c.121-2257G>T
c.653G>T (p.Gly218Val)
c.494G>T (p.Gly165Val)
n.137G>T
c.734G>T (p.Gly245Val)
c.716G>T (p.Gly239Val)
c.614G>T (p.Gly205Val)
c.794G>T (p.Gly265Val)
c.896G>T (p.Gly299Val)
c.836G>T (p.Gly279Val)
n.4485C>A
c.719G>T (p.Gly240Val)
c.737G>T (p.Gly246Val)
c.527G>T (p.Gly176Val)
c.545G>T (p.Gly182Val)
2g.127426101G>ACA428618185PROCc.552G>A (p.Gly184=)
c.121-2256G>A
c.654G>A (p.Gly218=)
c.495G>A (p.Gly165=)
n.138G>A
c.735G>A (p.Gly245=)
c.717G>A (p.Gly239=)
c.615G>A (p.Gly205=)
c.795G>A (p.Gly265=)
c.897G>A (p.Gly299=)
c.837G>A (p.Gly279=)
n.4484C>T
c.720G>A (p.Gly240=)
c.738G>A (p.Gly246=)
c.528G>A (p.Gly176=)
c.546G>A (p.Gly182=)
 gnomAD v4
2g.127426101G>CCA428618187PROCc.552G>C (p.Gly184=)
c.121-2256G>C
c.654G>C (p.Gly218=)
c.495G>C (p.Gly165=)
n.138G>C
c.735G>C (p.Gly245=)
c.717G>C (p.Gly239=)
c.615G>C (p.Gly205=)
c.795G>C (p.Gly265=)
c.897G>C (p.Gly299=)
c.837G>C (p.Gly279=)
n.4484C>G
c.720G>C (p.Gly240=)
c.738G>C (p.Gly246=)
c.528G>C (p.Gly176=)
c.546G>C (p.Gly182=)
2g.127426101G=CA1286883401PROCc.552G= (p.Gly184=)
c.121-2256G=
c.654G= (p.Gly218=)
c.495G= (p.Gly165=)
n.138G=
c.735G= (p.Gly245=)
c.717G= (p.Gly239=)
c.615G= (p.Gly205=)
c.795G= (p.Gly265=)
c.897G= (p.Gly299=)
c.837G= (p.Gly279=)
n.4484C=
c.720G= (p.Gly240=)
c.738G= (p.Gly246=)
c.528G= (p.Gly176=)
c.546G= (p.Gly182=)
2g.127426101G>TCA428618189PROCc.552G>T (p.Gly184=)
c.121-2256G>T
c.654G>T (p.Gly218=)
c.495G>T (p.Gly165=)
n.138G>T
c.735G>T (p.Gly245=)
c.717G>T (p.Gly239=)
c.615G>T (p.Gly205=)
c.795G>T (p.Gly265=)
c.897G>T (p.Gly299=)
c.837G>T (p.Gly279=)
n.4484C>A
c.720G>T (p.Gly240=)
c.738G>T (p.Gly246=)
c.528G>T (p.Gly176=)
c.546G>T (p.Gly182=)
2g.127426101_127426102insTTCA891842726PROCc.552_553insTT (p.Arg185LeufsTer14)
c.121-2256_121-2255insTT
c.654_655insTT (p.Arg219LeufsTer14)
c.495_496insTT (p.Arg166LeufsTer?)
n.138_139insTT
c.735_736insTT (p.Arg246LeufsTer14)
c.717_718insTT (p.Arg240LeufsTer14)
c.615_616insTT (p.Arg206LeufsTer14)
c.795_796insTT (p.Arg266LeufsTer14)
c.897_898insTT (p.Arg300LeufsTer14)
c.837_838insTT (p.Arg280LeufsTer14)
n.4483_4484insAA
c.720_721insTT (p.Arg241LeufsTer14)
c.738_739insTT (p.Arg247LeufsTer14)
c.495_496insTT (p.Arg166LeufsTer14)
c.528_529insTT (p.Arg177LeufsTer14)
c.546_547insTT (p.Arg183LeufsTer14)
 ClinVar dbSNP gnomAD v4
2g.127426102A>CCA428618190PROCc.553A>C (p.Arg185=)
c.121-2255A>C
c.655A>C (p.Arg219=)
c.496A>C (p.Arg166=)
n.139A>C
c.736A>C (p.Arg246=)
c.718A>C (p.Arg240=)
c.616A>C (p.Arg206=)
c.796A>C (p.Arg266=)
c.898A>C (p.Arg300=)
c.838A>C (p.Arg280=)
n.4483T>G
c.721A>C (p.Arg241=)
c.739A>C (p.Arg247=)
c.529A>C (p.Arg177=)
c.547A>C (p.Arg183=)
2g.127426102A>GCA348401022PROCc.553A>G (p.Arg185Gly)
c.121-2255A>G
c.655A>G (p.Arg219Gly)
c.496A>G (p.Arg166Gly)
n.139A>G
c.736A>G (p.Arg246Gly)
c.718A>G (p.Arg240Gly)
c.616A>G (p.Arg206Gly)
c.796A>G (p.Arg266Gly)
c.898A>G (p.Arg300Gly)
c.838A>G (p.Arg280Gly)
n.4483T>C
c.721A>G (p.Arg241Gly)
c.739A>G (p.Arg247Gly)
c.529A>G (p.Arg177Gly)
c.547A>G (p.Arg183Gly)
2g.127426102A>TCA348401025PROCc.553A>T (p.Arg185Trp)
c.121-2255A>T
c.655A>T (p.Arg219Trp)
c.496A>T (p.Arg166Trp)
n.139A>T
c.736A>T (p.Arg246Trp)
c.718A>T (p.Arg240Trp)
c.616A>T (p.Arg206Trp)
c.796A>T (p.Arg266Trp)
c.898A>T (p.Arg300Trp)
c.838A>T (p.Arg280Trp)
n.4483T>A
c.721A>T (p.Arg241Trp)
c.739A>T (p.Arg247Trp)
c.529A>T (p.Arg177Trp)
c.547A>T (p.Arg183Trp)
2g.127426102_127426105dupCA2660996883PROCc.553_556dup (p.Pro186GlnfsTer30)
c.121-2255_121-2252dup
c.655_658dup (p.Pro220GlnfsTer30)
c.496_499dup (p.Pro167GlnfsTer?)
n.139_142dup
c.736_739dup (p.Pro247GlnfsTer30)
c.718_721dup (p.Pro241GlnfsTer30)
c.616_619dup (p.Pro207GlnfsTer30)
c.796_799dup (p.Pro267GlnfsTer30)
c.898_901dup (p.Pro301GlnfsTer30)
c.838_841dup (p.Pro281GlnfsTer30)
n.4480_4483dup
c.721_724dup (p.Pro242GlnfsTer30)
c.739_742dup (p.Pro248GlnfsTer30)
c.496_499dup (p.Pro167GlnfsTer30)
c.529_532dup (p.Pro178GlnfsTer30)
c.547_550dup (p.Pro184GlnfsTer30)
 gnomAD v4
2g.127426103G>ACA348401028PROCc.554G>A (p.Arg185Lys)
c.121-2254G>A
c.656G>A (p.Arg219Lys)
c.497G>A (p.Arg166Lys)
n.140G>A
c.737G>A (p.Arg246Lys)
c.719G>A (p.Arg240Lys)
c.617G>A (p.Arg206Lys)
c.797G>A (p.Arg266Lys)
c.899G>A (p.Arg300Lys)
c.839G>A (p.Arg280Lys)
n.4482C>T
c.722G>A (p.Arg241Lys)
c.740G>A (p.Arg247Lys)
c.530G>A (p.Arg177Lys)
c.548G>A (p.Arg183Lys)
 gnomAD v4
2g.127426103G>CCA348401030PROCc.554G>C (p.Arg185Thr)
c.121-2254G>C
c.656G>C (p.Arg219Thr)
c.497G>C (p.Arg166Thr)
n.140G>C
c.737G>C (p.Arg246Thr)
c.719G>C (p.Arg240Thr)
c.617G>C (p.Arg206Thr)
c.797G>C (p.Arg266Thr)
c.899G>C (p.Arg300Thr)
c.839G>C (p.Arg280Thr)
n.4482C>G
c.722G>C (p.Arg241Thr)
c.740G>C (p.Arg247Thr)
c.530G>C (p.Arg177Thr)
c.548G>C (p.Arg183Thr)
2g.127426103G>TCA348401033PROCc.554G>T (p.Arg185Met)
c.121-2254G>T
c.656G>T (p.Arg219Met)
c.497G>T (p.Arg166Met)
n.140G>T
c.737G>T (p.Arg246Met)
c.719G>T (p.Arg240Met)
c.617G>T (p.Arg206Met)
c.797G>T (p.Arg266Met)
c.899G>T (p.Arg300Met)
c.839G>T (p.Arg280Met)
n.4482C>A
c.722G>T (p.Arg241Met)
c.740G>T (p.Arg247Met)
c.530G>T (p.Arg177Met)
c.548G>T (p.Arg183Met)
 dbSNP
2g.127426104G>ACA428618192PROCc.555G>A (p.Arg185=)
c.121-2253G>A
c.657G>A (p.Arg219=)
c.498G>A (p.Arg166=)
n.141G>A
c.738G>A (p.Arg246=)
c.720G>A (p.Arg240=)
c.618G>A (p.Arg206=)
c.798G>A (p.Arg266=)
c.900G>A (p.Arg300=)
c.840G>A (p.Arg280=)
n.4481C>T
c.723G>A (p.Arg241=)
c.741G>A (p.Arg247=)
c.531G>A (p.Arg177=)
c.549G>A (p.Arg183=)
2g.127426104G>CCA348401035PROCc.555G>C (p.Arg185Ser)
c.121-2253G>C
c.657G>C (p.Arg219Ser)
c.498G>C (p.Arg166Ser)
n.141G>C
c.738G>C (p.Arg246Ser)
c.720G>C (p.Arg240Ser)
c.618G>C (p.Arg206Ser)
c.798G>C (p.Arg266Ser)
c.900G>C (p.Arg300Ser)
c.840G>C (p.Arg280Ser)
n.4481C>G
c.723G>C (p.Arg241Ser)
c.741G>C (p.Arg247Ser)
c.531G>C (p.Arg177Ser)
c.549G>C (p.Arg183Ser)
2g.127426104G>TCA348401037PROCc.555G>T (p.Arg185Ser)
c.121-2253G>T
c.657G>T (p.Arg219Ser)
c.498G>T (p.Arg166Ser)
n.141G>T
c.738G>T (p.Arg246Ser)
c.720G>T (p.Arg240Ser)
c.618G>T (p.Arg206Ser)
c.798G>T (p.Arg266Ser)
c.900G>T (p.Arg300Ser)
c.840G>T (p.Arg280Ser)
n.4481C>A
c.723G>T (p.Arg241Ser)
c.741G>T (p.Arg247Ser)
c.531G>T (p.Arg177Ser)
c.549G>T (p.Arg183Ser)
2g.127426105C>ACA348401042PROCc.556C>A (p.Pro186Thr)
c.121-2252C>A
c.658C>A (p.Pro220Thr)
c.499C>A (p.Pro167Thr)
n.142C>A
c.739C>A (p.Pro247Thr)
c.721C>A (p.Pro241Thr)
c.619C>A (p.Pro207Thr)
c.799C>A (p.Pro267Thr)
c.901C>A (p.Pro301Thr)
c.841C>A (p.Pro281Thr)
n.4480G>T
c.724C>A (p.Pro242Thr)
c.742C>A (p.Pro248Thr)
c.532C>A (p.Pro178Thr)
c.550C>A (p.Pro184Thr)
2g.127426105C>GCA348401044PROCc.556C>G (p.Pro186Ala)
c.121-2252C>G
c.658C>G (p.Pro220Ala)
c.499C>G (p.Pro167Ala)
n.142C>G
c.739C>G (p.Pro247Ala)
c.721C>G (p.Pro241Ala)
c.619C>G (p.Pro207Ala)
c.799C>G (p.Pro267Ala)
c.901C>G (p.Pro301Ala)
c.841C>G (p.Pro281Ala)
n.4480G>C
c.724C>G (p.Pro242Ala)
c.742C>G (p.Pro248Ala)
c.532C>G (p.Pro178Ala)
c.550C>G (p.Pro184Ala)
2g.127426105C>TCA348401046PROCc.556C>T (p.Pro186Ser)
c.121-2252C>T
c.658C>T (p.Pro220Ser)
c.499C>T (p.Pro167Ser)
n.142C>T
c.739C>T (p.Pro247Ser)
c.721C>T (p.Pro241Ser)
c.619C>T (p.Pro207Ser)
c.799C>T (p.Pro267Ser)
c.901C>T (p.Pro301Ser)
c.841C>T (p.Pro281Ser)
n.4480G>A
c.724C>T (p.Pro242Ser)
c.742C>T (p.Pro248Ser)
c.532C>T (p.Pro178Ser)
c.550C>T (p.Pro184Ser)
 ClinVar
2g.127426106C>ACA348401050PROCc.557C>A (p.Pro186His)
c.121-2251C>A
c.659C>A (p.Pro220His)
c.500C>A (p.Pro167His)
n.143C>A
c.740C>A (p.Pro247His)
c.722C>A (p.Pro241His)
c.620C>A (p.Pro207His)
c.800C>A (p.Pro267His)
c.902C>A (p.Pro301His)
c.842C>A (p.Pro281His)
n.4479G>T
c.725C>A (p.Pro242His)
c.743C>A (p.Pro248His)
c.533C>A (p.Pro178His)
c.551C>A (p.Pro184His)
 dbSNP COSMIC COSMIC
2g.127426106C=CA1286883402PROCc.557C= (p.Pro186=)
c.121-2251C=
c.659C= (p.Pro220=)
c.500C= (p.Pro167=)
n.143C=
c.740C= (p.Pro247=)
c.722C= (p.Pro241=)
c.620C= (p.Pro207=)
c.800C= (p.Pro267=)
c.902C= (p.Pro301=)
c.842C= (p.Pro281=)
n.4479G=
c.725C= (p.Pro242=)
c.743C= (p.Pro248=)
c.533C= (p.Pro178=)
c.551C= (p.Pro184=)
2g.127426106C>GCA348401052PROCc.557C>G (p.Pro186Arg)
c.121-2251C>G
c.659C>G (p.Pro220Arg)
c.500C>G (p.Pro167Arg)
n.143C>G
c.740C>G (p.Pro247Arg)
c.722C>G (p.Pro241Arg)
c.620C>G (p.Pro207Arg)
c.800C>G (p.Pro267Arg)
c.902C>G (p.Pro301Arg)
c.842C>G (p.Pro281Arg)
n.4479G>C
c.725C>G (p.Pro242Arg)
c.743C>G (p.Pro248Arg)
c.533C>G (p.Pro178Arg)
c.551C>G (p.Pro184Arg)
2g.127426106C>TCA348401055PROCc.557C>T (p.Pro186Leu)
c.121-2251C>T
c.659C>T (p.Pro220Leu)
c.500C>T (p.Pro167Leu)
n.143C>T
c.740C>T (p.Pro247Leu)
c.722C>T (p.Pro241Leu)
c.620C>T (p.Pro207Leu)
c.800C>T (p.Pro267Leu)
c.902C>T (p.Pro301Leu)
c.842C>T (p.Pro281Leu)
n.4479G>A
c.725C>T (p.Pro242Leu)
c.743C>T (p.Pro248Leu)
c.533C>T (p.Pro178Leu)
c.551C>T (p.Pro184Leu)
 gnomAD v4
2g.127426107C>ACA428618197PROCc.558C>A (p.Pro186=)
c.121-2250C>A
c.660C>A (p.Pro220=)
c.501C>A (p.Pro167=)
n.144C>A
c.741C>A (p.Pro247=)
c.723C>A (p.Pro241=)
c.621C>A (p.Pro207=)
c.801C>A (p.Pro267=)
c.903C>A (p.Pro301=)
c.843C>A (p.Pro281=)
n.4478G>T
c.726C>A (p.Pro242=)
c.744C>A (p.Pro248=)
c.534C>A (p.Pro178=)
c.552C>A (p.Pro184=)
2g.127426107C>GCA428618198PROCc.558C>G (p.Pro186=)
c.121-2250C>G
c.660C>G (p.Pro220=)
c.501C>G (p.Pro167=)
n.144C>G
c.741C>G (p.Pro247=)
c.723C>G (p.Pro241=)
c.621C>G (p.Pro207=)
c.801C>G (p.Pro267=)
c.903C>G (p.Pro301=)
c.843C>G (p.Pro281=)
n.4478G>C
c.726C>G (p.Pro242=)
c.744C>G (p.Pro248=)
c.534C>G (p.Pro178=)
c.552C>G (p.Pro184=)
2g.127426107C>TCA428618199PROCc.558C>T (p.Pro186=)
c.121-2250C>T
c.660C>T (p.Pro220=)
c.501C>T (p.Pro167=)
n.144C>T
c.741C>T (p.Pro247=)
c.723C>T (p.Pro241=)
c.621C>T (p.Pro207=)
c.801C>T (p.Pro267=)
c.903C>T (p.Pro301=)
c.843C>T (p.Pro281=)
n.4478G>A
c.726C>T (p.Pro242=)
c.744C>T (p.Pro248=)
c.534C>T (p.Pro178=)
c.552C>T (p.Pro184=)
 gnomAD v4
2g.127426108T>ACA348401063PROCc.559T>A (p.Trp187Arg)
c.121-2249T>A
c.661T>A (p.Trp221Arg)
c.502T>A (p.Trp168Arg)
n.145T>A
c.742T>A (p.Trp248Arg)
c.724T>A (p.Trp242Arg)
c.622T>A (p.Trp208Arg)
c.802T>A (p.Trp268Arg)
c.904T>A (p.Trp302Arg)
c.844T>A (p.Trp282Arg)
n.4477A>T
c.727T>A (p.Trp243Arg)
c.745T>A (p.Trp249Arg)
c.535T>A (p.Trp179Arg)
c.553T>A (p.Trp185Arg)
2g.127426108T>CCA348401058PROCc.559T>C (p.Trp187Arg)
c.121-2249T>C
c.661T>C (p.Trp221Arg)
c.502T>C (p.Trp168Arg)
n.145T>C
c.742T>C (p.Trp248Arg)
c.724T>C (p.Trp242Arg)
c.622T>C (p.Trp208Arg)
c.802T>C (p.Trp268Arg)
c.904T>C (p.Trp302Arg)
c.844T>C (p.Trp282Arg)
n.4477A>G
c.727T>C (p.Trp243Arg)
c.745T>C (p.Trp249Arg)
c.535T>C (p.Trp179Arg)
c.553T>C (p.Trp185Arg)
2g.127426108T>GCA348401060PROCc.559T>G (p.Trp187Gly)
c.121-2249T>G
c.661T>G (p.Trp221Gly)
c.502T>G (p.Trp168Gly)
n.145T>G
c.742T>G (p.Trp248Gly)
c.724T>G (p.Trp242Gly)
c.622T>G (p.Trp208Gly)
c.802T>G (p.Trp268Gly)
c.904T>G (p.Trp302Gly)
c.844T>G (p.Trp282Gly)
n.4477A>C
c.727T>G (p.Trp243Gly)
c.745T>G (p.Trp249Gly)
c.535T>G (p.Trp179Gly)
c.553T>G (p.Trp185Gly)
2g.127426109G>ACA55348218PROCc.560G>A (p.Trp187Ter)
c.121-2248G>A
c.662G>A (p.Trp221Ter)
c.503G>A (p.Trp168Ter)
n.146G>A
c.743G>A (p.Trp248Ter)
c.725G>A (p.Trp242Ter)
c.623G>A (p.Trp208Ter)
c.803G>A (p.Trp268Ter)
c.905G>A (p.Trp302Ter)
c.845G>A (p.Trp282Ter)
n.4476C>T
c.728G>A (p.Trp243Ter)
c.746G>A (p.Trp249Ter)
c.536G>A (p.Trp179Ter)
c.554G>A (p.Trp185Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127426109G>CCA348401068PROCc.560G>C (p.Trp187Ser)
c.121-2248G>C
c.662G>C (p.Trp221Ser)
c.503G>C (p.Trp168Ser)
n.146G>C
c.743G>C (p.Trp248Ser)
c.725G>C (p.Trp242Ser)
c.623G>C (p.Trp208Ser)
c.803G>C (p.Trp268Ser)
c.905G>C (p.Trp302Ser)
c.845G>C (p.Trp282Ser)
n.4476C>G
c.728G>C (p.Trp243Ser)
c.746G>C (p.Trp249Ser)
c.536G>C (p.Trp179Ser)
c.554G>C (p.Trp185Ser)
2g.127426109G=CA1286883403PROCc.560G= (p.Trp187=)
c.121-2248G=
c.662G= (p.Trp221=)
c.503G= (p.Trp168=)
n.146G=
c.743G= (p.Trp248=)
c.725G= (p.Trp242=)
c.623G= (p.Trp208=)
c.803G= (p.Trp268=)
c.905G= (p.Trp302=)
c.845G= (p.Trp282=)
n.4476C=
c.728G= (p.Trp243=)
c.746G= (p.Trp249=)
c.536G= (p.Trp179=)
c.554G= (p.Trp185=)
2g.127426109G>TCA348401071PROCc.560G>T (p.Trp187Leu)
c.121-2248G>T
c.662G>T (p.Trp221Leu)
c.503G>T (p.Trp168Leu)
n.146G>T
c.743G>T (p.Trp248Leu)
c.725G>T (p.Trp242Leu)
c.623G>T (p.Trp208Leu)
c.803G>T (p.Trp268Leu)
c.905G>T (p.Trp302Leu)
c.845G>T (p.Trp282Leu)
n.4476C>A
c.728G>T (p.Trp243Leu)
c.746G>T (p.Trp249Leu)
c.536G>T (p.Trp179Leu)
c.554G>T (p.Trp185Leu)
2g.127426110G>ACA348401073PROCc.561G>A (p.Trp187Ter)
c.121-2247G>A
c.663G>A (p.Trp221Ter)
c.504G>A (p.Trp168Ter)
n.147G>A
c.744G>A (p.Trp248Ter)
c.726G>A (p.Trp242Ter)
c.624G>A (p.Trp208Ter)
c.804G>A (p.Trp268Ter)
c.906G>A (p.Trp302Ter)
c.846G>A (p.Trp282Ter)
n.4475C>T
c.729G>A (p.Trp243Ter)
c.747G>A (p.Trp249Ter)
c.537G>A (p.Trp179Ter)
c.555G>A (p.Trp185Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127426110G>CCA348401076PROCc.561G>C (p.Trp187Cys)
c.121-2247G>C
c.663G>C (p.Trp221Cys)
c.504G>C (p.Trp168Cys)
n.147G>C
c.744G>C (p.Trp248Cys)
c.726G>C (p.Trp242Cys)
c.624G>C (p.Trp208Cys)
c.804G>C (p.Trp268Cys)
c.906G>C (p.Trp302Cys)
c.846G>C (p.Trp282Cys)
n.4475C>G
c.729G>C (p.Trp243Cys)
c.747G>C (p.Trp249Cys)
c.537G>C (p.Trp179Cys)
c.555G>C (p.Trp185Cys)
2g.127426110G=CA1286883404PROCc.561G= (p.Trp187=)
c.121-2247G=
c.663G= (p.Trp221=)
c.504G= (p.Trp168=)
n.147G=
c.744G= (p.Trp248=)
c.726G= (p.Trp242=)
c.624G= (p.Trp208=)
c.804G= (p.Trp268=)
c.906G= (p.Trp302=)
c.846G= (p.Trp282=)
n.4475C=
c.729G= (p.Trp243=)
c.747G= (p.Trp249=)
c.537G= (p.Trp179=)
c.555G= (p.Trp185=)
2g.127426110G>TCA348401078PROCc.561G>T (p.Trp187Cys)
c.121-2247G>T
c.663G>T (p.Trp221Cys)
c.504G>T (p.Trp168Cys)
n.147G>T
c.744G>T (p.Trp248Cys)
c.726G>T (p.Trp242Cys)
c.624G>T (p.Trp208Cys)
c.804G>T (p.Trp268Cys)
c.906G>T (p.Trp302Cys)
c.846G>T (p.Trp282Cys)
n.4475C>A
c.729G>T (p.Trp243Cys)
c.747G>T (p.Trp249Cys)
c.537G>T (p.Trp179Cys)
c.555G>T (p.Trp185Cys)
2g.127426110_127426111delinsGACA1286883405PROCc.561_562delinsGA (p.Trp187=)
c.121-2247_121-2246delinsGA
c.663_664delinsGA (p.Trp221=)
c.504_505delinsGA (p.Trp168=)
n.147_148delinsGA
c.744_745delinsGA (p.Trp248=)
c.726_727delinsGA (p.Trp242=)
c.624_625delinsGA (p.Trp208=)
c.804_805delinsGA (p.Trp268=)
c.906_907delinsGA (p.Trp302=)
c.846_847delinsGA (p.Trp282=)
n.4474_4475delinsTC
c.729_730delinsGA (p.Trp243=)
c.747_748delinsGA (p.Trp249=)
c.537_538delinsGA (p.Trp179=)
c.555_556delinsGA (p.Trp185=)
2g.127426111A>CCA348401082PROCc.562A>C (p.Lys188Gln)
c.121-2246A>C
c.664A>C (p.Lys222Gln)
c.505A>C (p.Lys169Gln)
n.148A>C
c.745A>C (p.Lys249Gln)
c.727A>C (p.Lys243Gln)
c.625A>C (p.Lys209Gln)
c.805A>C (p.Lys269Gln)
c.907A>C (p.Lys303Gln)
c.847A>C (p.Lys283Gln)
n.4474T>G
c.730A>C (p.Lys244Gln)
c.748A>C (p.Lys250Gln)
c.538A>C (p.Lys180Gln)
c.556A>C (p.Lys186Gln)
2g.127426111A>GCA348401083PROCc.562A>G (p.Lys188Glu)
c.121-2246A>G
c.664A>G (p.Lys222Glu)
c.505A>G (p.Lys169Glu)
n.148A>G
c.745A>G (p.Lys249Glu)
c.727A>G (p.Lys243Glu)
c.625A>G (p.Lys209Glu)
c.805A>G (p.Lys269Glu)
c.907A>G (p.Lys303Glu)
c.847A>G (p.Lys283Glu)
n.4474T>C
c.730A>G (p.Lys244Glu)
c.748A>G (p.Lys250Glu)
c.538A>G (p.Lys180Glu)
c.556A>G (p.Lys186Glu)
 gnomAD v4
2g.127426111A>TCA348401086PROCc.562A>T (p.Lys188Ter)
c.121-2246A>T
c.664A>T (p.Lys222Ter)
c.505A>T (p.Lys169Ter)
n.148A>T
c.745A>T (p.Lys249Ter)
c.727A>T (p.Lys243Ter)
c.625A>T (p.Lys209Ter)
c.805A>T (p.Lys269Ter)
c.907A>T (p.Lys303Ter)
c.847A>T (p.Lys283Ter)
n.4474T>A
c.730A>T (p.Lys244Ter)
c.748A>T (p.Lys250Ter)
c.538A>T (p.Lys180Ter)
c.556A>T (p.Lys186Ter)
2g.127426112delCA535639811PROCc.563del (p.Lys188SerfsTer10)
c.121-2245del
c.665del (p.Lys222SerfsTer10)
c.506del (p.Lys169SerfsTer?)
n.149del
c.746del (p.Lys249SerfsTer10)
c.728del (p.Lys243SerfsTer10)
c.626del (p.Lys209SerfsTer10)
c.806del (p.Lys269SerfsTer10)
c.908del (p.Lys303SerfsTer10)
c.848del (p.Lys283SerfsTer10)
n.4474del
c.731del (p.Lys244SerfsTer10)
c.749del (p.Lys250SerfsTer10)
c.506del (p.Lys169SerfsTer10)
c.539del (p.Lys180SerfsTer10)
c.557del (p.Lys186SerfsTer10)
 dbSNP gnomAD v2 gnomAD v4
2g.127426112A=CA1286883406PROCc.563A= (p.Lys188=)
c.121-2245A=
c.665A= (p.Lys222=)
c.506A= (p.Lys169=)
n.149A=
c.746A= (p.Lys249=)
c.728A= (p.Lys243=)
c.626A= (p.Lys209=)
c.806A= (p.Lys269=)
c.908A= (p.Lys303=)
c.848A= (p.Lys283=)
n.4473T=
c.731A= (p.Lys244=)
c.749A= (p.Lys250=)
c.539A= (p.Lys180=)
c.557A= (p.Lys186=)
2g.127426112A>CCA348401089PROCc.563A>C (p.Lys188Thr)
c.121-2245A>C
c.665A>C (p.Lys222Thr)
c.506A>C (p.Lys169Thr)
n.149A>C
c.746A>C (p.Lys249Thr)
c.728A>C (p.Lys243Thr)
c.626A>C (p.Lys209Thr)
c.806A>C (p.Lys269Thr)
c.908A>C (p.Lys303Thr)
c.848A>C (p.Lys283Thr)
n.4473T>G
c.731A>C (p.Lys244Thr)
c.749A>C (p.Lys250Thr)
c.539A>C (p.Lys180Thr)
c.557A>C (p.Lys186Thr)
2g.127426112A>GCA1859387PROCc.563A>G (p.Lys188Arg)
c.121-2245A>G
c.665A>G (p.Lys222Arg)
c.506A>G (p.Lys169Arg)
n.149A>G
c.746A>G (p.Lys249Arg)
c.728A>G (p.Lys243Arg)
c.626A>G (p.Lys209Arg)
c.806A>G (p.Lys269Arg)
c.908A>G (p.Lys303Arg)
c.848A>G (p.Lys283Arg)
n.4473T>C
c.731A>G (p.Lys244Arg)
c.749A>G (p.Lys250Arg)
c.539A>G (p.Lys180Arg)
c.557A>G (p.Lys186Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426112A>TCA348401094PROCc.563A>T (p.Lys188Met)
c.121-2245A>T
c.665A>T (p.Lys222Met)
c.506A>T (p.Lys169Met)
n.149A>T
c.746A>T (p.Lys249Met)
c.728A>T (p.Lys243Met)
c.626A>T (p.Lys209Met)
c.806A>T (p.Lys269Met)
c.908A>T (p.Lys303Met)
c.848A>T (p.Lys283Met)
n.4473T>A
c.731A>T (p.Lys244Met)
c.749A>T (p.Lys250Met)
c.539A>T (p.Lys180Met)
c.557A>T (p.Lys186Met)
2g.127426113G>ACA428618203PROCc.564G>A (p.Lys188=)
c.121-2244G>A
c.666G>A (p.Lys222=)
c.507G>A (p.Lys169=)
n.150G>A
c.747G>A (p.Lys249=)
c.729G>A (p.Lys243=)
c.627G>A (p.Lys209=)
c.807G>A (p.Lys269=)
c.909G>A (p.Lys303=)
c.849G>A (p.Lys283=)
n.4472C>T
c.732G>A (p.Lys244=)
c.750G>A (p.Lys250=)
c.540G>A (p.Lys180=)
c.558G>A (p.Lys186=)
2g.127426113G>CCA348401096PROCc.564G>C (p.Lys188Asn)
c.121-2244G>C
c.666G>C (p.Lys222Asn)
c.507G>C (p.Lys169Asn)
n.150G>C
c.747G>C (p.Lys249Asn)
c.729G>C (p.Lys243Asn)
c.627G>C (p.Lys209Asn)
c.807G>C (p.Lys269Asn)
c.909G>C (p.Lys303Asn)
c.849G>C (p.Lys283Asn)
n.4472C>G
c.732G>C (p.Lys244Asn)
c.750G>C (p.Lys250Asn)
c.540G>C (p.Lys180Asn)
c.558G>C (p.Lys186Asn)
2g.127426113G>TCA348401095PROCc.564G>T (p.Lys188Asn)
c.121-2244G>T
c.666G>T (p.Lys222Asn)
c.507G>T (p.Lys169Asn)
n.150G>T
c.747G>T (p.Lys249Asn)
c.729G>T (p.Lys243Asn)
c.627G>T (p.Lys209Asn)
c.807G>T (p.Lys269Asn)
c.909G>T (p.Lys303Asn)
c.849G>T (p.Lys283Asn)
n.4472C>A
c.732G>T (p.Lys244Asn)
c.750G>T (p.Lys250Asn)
c.540G>T (p.Lys180Asn)
c.558G>T (p.Lys186Asn)
 gnomAD v4
2g.127426114C>ACA428618204PROCc.565C>A (p.Arg189=)
c.121-2243C>A
c.667C>A (p.Arg223=)
c.508C>A (p.Arg170=)
n.151C>A
c.748C>A (p.Arg250=)
c.730C>A (p.Arg244=)
c.628C>A (p.Arg210=)
c.808C>A (p.Arg270=)
c.910C>A (p.Arg304=)
c.850C>A (p.Arg284=)
n.4471G>T
c.733C>A (p.Arg245=)
c.751C>A (p.Arg251=)
c.541C>A (p.Arg181=)
c.559C>A (p.Arg187=)
2g.127426114C=CA1286883407PROCc.565C= (p.Arg189=)
c.121-2243C=
c.667C= (p.Arg223=)
c.508C= (p.Arg170=)
n.151C=
c.748C= (p.Arg250=)
c.730C= (p.Arg244=)
c.628C= (p.Arg210=)
c.808C= (p.Arg270=)
c.910C= (p.Arg304=)
c.850C= (p.Arg284=)
n.4471G=
c.733C= (p.Arg245=)
c.751C= (p.Arg251=)
c.541C= (p.Arg181=)
c.559C= (p.Arg187=)
2g.127426114C>GCA348401100PROCc.565C>G (p.Arg189Gly)
c.121-2243C>G
c.667C>G (p.Arg223Gly)
c.508C>G (p.Arg170Gly)
n.151C>G
c.748C>G (p.Arg250Gly)
c.730C>G (p.Arg244Gly)
c.628C>G (p.Arg210Gly)
c.808C>G (p.Arg270Gly)
c.910C>G (p.Arg304Gly)
c.850C>G (p.Arg284Gly)
n.4471G>C
c.733C>G (p.Arg245Gly)
c.751C>G (p.Arg251Gly)
c.541C>G (p.Arg181Gly)
c.559C>G (p.Arg187Gly)
2g.127426114C>TCA211732PROCc.565C>T (p.Arg189Trp)
c.121-2243C>T
c.667C>T (p.Arg223Trp)
c.508C>T (p.Arg170Trp)
n.151C>T
c.748C>T (p.Arg250Trp)
c.730C>T (p.Arg244Trp)
c.628C>T (p.Arg210Trp)
c.808C>T (p.Arg270Trp)
c.910C>T (p.Arg304Trp)
c.850C>T (p.Arg284Trp)
n.4471G>A
c.733C>T (p.Arg245Trp)
c.751C>T (p.Arg251Trp)
c.541C>T (p.Arg181Trp)
c.559C>T (p.Arg187Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426115G>ACA348401104PROCc.566G>A (p.Arg189Gln)
c.121-2242G>A
c.668G>A (p.Arg223Gln)
c.509G>A (p.Arg170Gln)
n.152G>A
c.749G>A (p.Arg250Gln)
c.731G>A (p.Arg244Gln)
c.629G>A (p.Arg210Gln)
c.809G>A (p.Arg270Gln)
c.911G>A (p.Arg304Gln)
c.851G>A (p.Arg284Gln)
n.4470C>T
c.734G>A (p.Arg245Gln)
c.752G>A (p.Arg251Gln)
c.542G>A (p.Arg181Gln)
c.560G>A (p.Arg187Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127426115G>CCA348401106PROCc.566G>C (p.Arg189Pro)
c.121-2242G>C
c.668G>C (p.Arg223Pro)
c.509G>C (p.Arg170Pro)
n.152G>C
c.749G>C (p.Arg250Pro)
c.731G>C (p.Arg244Pro)
c.629G>C (p.Arg210Pro)
c.809G>C (p.Arg270Pro)
c.911G>C (p.Arg304Pro)
c.851G>C (p.Arg284Pro)
n.4470C>G
c.734G>C (p.Arg245Pro)
c.752G>C (p.Arg251Pro)
c.542G>C (p.Arg181Pro)
c.560G>C (p.Arg187Pro)
2g.127426115G=CA1286883408PROCc.566G= (p.Arg189=)
c.121-2242G=
c.668G= (p.Arg223=)
c.509G= (p.Arg170=)
n.152G=
c.749G= (p.Arg250=)
c.731G= (p.Arg244=)
c.629G= (p.Arg210=)
c.809G= (p.Arg270=)
c.911G= (p.Arg304=)
c.851G= (p.Arg284=)
n.4470C=
c.734G= (p.Arg245=)
c.752G= (p.Arg251=)
c.542G= (p.Arg181=)
c.560G= (p.Arg187=)
2g.127426115G>TCA348401108PROCc.566G>T (p.Arg189Leu)
c.121-2242G>T
c.668G>T (p.Arg223Leu)
c.509G>T (p.Arg170Leu)
n.152G>T
c.749G>T (p.Arg250Leu)
c.731G>T (p.Arg244Leu)
c.629G>T (p.Arg210Leu)
c.809G>T (p.Arg270Leu)
c.911G>T (p.Arg304Leu)
c.851G>T (p.Arg284Leu)
n.4470C>A
c.734G>T (p.Arg245Leu)
c.752G>T (p.Arg251Leu)
c.542G>T (p.Arg181Leu)
c.560G>T (p.Arg187Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.127426116delCA2586969897PROCc.567del (p.Met190TrpfsTer8)
c.121-2241del
c.669del (p.Met224TrpfsTer8)
c.510del (p.Met171TrpfsTer?)
n.153del
c.750del (p.Met251TrpfsTer8)
c.732del (p.Met245TrpfsTer8)
c.630del (p.Met211TrpfsTer8)
c.810del (p.Met271TrpfsTer8)
c.912del (p.Met305TrpfsTer8)
c.852del (p.Met285TrpfsTer8)
n.4470del
c.735del (p.Met246TrpfsTer8)
c.753del (p.Met252TrpfsTer8)
c.510del (p.Met171TrpfsTer8)
c.543del (p.Met182TrpfsTer8)
c.561del (p.Met188TrpfsTer8)
2g.127426116G>ACA428618211PROCc.567G>A (p.Arg189=)
c.121-2241G>A
c.669G>A (p.Arg223=)
c.510G>A (p.Arg170=)
n.153G>A
c.750G>A (p.Arg250=)
c.732G>A (p.Arg244=)
c.630G>A (p.Arg210=)
c.810G>A (p.Arg270=)
c.912G>A (p.Arg304=)
c.852G>A (p.Arg284=)
n.4469C>T
c.735G>A (p.Arg245=)
c.753G>A (p.Arg251=)
c.543G>A (p.Arg181=)
c.561G>A (p.Arg187=)
 ClinVar
2g.127426116G>CCA428618209PROCc.567G>C (p.Arg189=)
c.121-2241G>C
c.669G>C (p.Arg223=)
c.510G>C (p.Arg170=)
n.153G>C
c.750G>C (p.Arg250=)
c.732G>C (p.Arg244=)
c.630G>C (p.Arg210=)
c.810G>C (p.Arg270=)
c.912G>C (p.Arg304=)
c.852G>C (p.Arg284=)
n.4469C>G
c.735G>C (p.Arg245=)
c.753G>C (p.Arg251=)
c.543G>C (p.Arg181=)
c.561G>C (p.Arg187=)
2g.127426116G>TCA428618210PROCc.567G>T (p.Arg189=)
c.121-2241G>T
c.669G>T (p.Arg223=)
c.510G>T (p.Arg170=)
n.153G>T
c.750G>T (p.Arg250=)
c.732G>T (p.Arg244=)
c.630G>T (p.Arg210=)
c.810G>T (p.Arg270=)
c.912G>T (p.Arg304=)
c.852G>T (p.Arg284=)
n.4469C>A
c.735G>T (p.Arg245=)
c.753G>T (p.Arg251=)
c.543G>T (p.Arg181=)
c.561G>T (p.Arg187=)
2g.127426117A>CCA348401112PROCc.568A>C (p.Met190Leu)
c.121-2240A>C
c.670A>C (p.Met224Leu)
c.511A>C (p.Met171Leu)
n.154A>C
c.751A>C (p.Met251Leu)
c.733A>C (p.Met245Leu)
c.631A>C (p.Met211Leu)
c.811A>C (p.Met271Leu)
c.913A>C (p.Met305Leu)
c.853A>C (p.Met285Leu)
n.4468T>G
c.736A>C (p.Met246Leu)
c.754A>C (p.Met252Leu)
c.544A>C (p.Met182Leu)
c.562A>C (p.Met188Leu)
2g.127426117A>GCA348401114PROCc.568A>G (p.Met190Val)
c.121-2240A>G
c.670A>G (p.Met224Val)
c.511A>G (p.Met171Val)
n.154A>G
c.751A>G (p.Met251Val)
c.733A>G (p.Met245Val)
c.631A>G (p.Met211Val)
c.811A>G (p.Met271Val)
c.913A>G (p.Met305Val)
c.853A>G (p.Met285Val)
n.4468T>C
c.736A>G (p.Met246Val)
c.754A>G (p.Met252Val)
c.544A>G (p.Met182Val)
c.562A>G (p.Met188Val)
 gnomAD v4
2g.127426117A>TCA348401116PROCc.568A>T (p.Met190Leu)
c.121-2240A>T
c.670A>T (p.Met224Leu)
c.511A>T (p.Met171Leu)
n.154A>T
c.751A>T (p.Met251Leu)
c.733A>T (p.Met245Leu)
c.631A>T (p.Met211Leu)
c.811A>T (p.Met271Leu)
c.913A>T (p.Met305Leu)
c.853A>T (p.Met285Leu)
n.4468T>A
c.736A>T (p.Met246Leu)
c.754A>T (p.Met252Leu)
c.544A>T (p.Met182Leu)
c.562A>T (p.Met188Leu)
2g.127426118T>ACA348401122PROCc.569T>A (p.Met190Lys)
c.121-2239T>A
c.671T>A (p.Met224Lys)
c.512T>A (p.Met171Lys)
n.155T>A
c.752T>A (p.Met251Lys)
c.734T>A (p.Met245Lys)
c.632T>A (p.Met211Lys)
c.812T>A (p.Met271Lys)
c.914T>A (p.Met305Lys)
c.854T>A (p.Met285Lys)
n.4467A>T
c.737T>A (p.Met246Lys)
c.755T>A (p.Met252Lys)
c.545T>A (p.Met182Lys)
c.563T>A (p.Met188Lys)
2g.127426118T>CCA348401120PROCc.569T>C (p.Met190Thr)
c.121-2239T>C
c.671T>C (p.Met224Thr)
c.512T>C (p.Met171Thr)
n.155T>C
c.752T>C (p.Met251Thr)
c.734T>C (p.Met245Thr)
c.632T>C (p.Met211Thr)
c.812T>C (p.Met271Thr)
c.914T>C (p.Met305Thr)
c.854T>C (p.Met285Thr)
n.4467A>G
c.737T>C (p.Met246Thr)
c.755T>C (p.Met252Thr)
c.545T>C (p.Met182Thr)
c.563T>C (p.Met188Thr)
 dbSNP
2g.127426118T>GCA348401119PROCc.569T>G (p.Met190Arg)
c.121-2239T>G
c.671T>G (p.Met224Arg)
c.512T>G (p.Met171Arg)
n.155T>G
c.752T>G (p.Met251Arg)
c.734T>G (p.Met245Arg)
c.632T>G (p.Met211Arg)
c.812T>G (p.Met271Arg)
c.914T>G (p.Met305Arg)
c.854T>G (p.Met285Arg)
n.4467A>C
c.737T>G (p.Met246Arg)
c.755T>G (p.Met252Arg)
c.545T>G (p.Met182Arg)
c.563T>G (p.Met188Arg)
2g.127426118T=CA1286883409PROCc.569T= (p.Met190=)
c.121-2239T=
c.671T= (p.Met224=)
c.512T= (p.Met171=)
n.155T=
c.752T= (p.Met251=)
c.734T= (p.Met245=)
c.632T= (p.Met211=)
c.812T= (p.Met271=)
c.914T= (p.Met305=)
c.854T= (p.Met285=)
n.4467A=
c.737T= (p.Met246=)
c.755T= (p.Met252=)
c.545T= (p.Met182=)
c.563T= (p.Met188=)
2g.127426119G>ACA348401126PROCc.570G>A (p.Met190Ile)
c.121-2238G>A
c.672G>A (p.Met224Ile)
c.513G>A (p.Met171Ile)
n.156G>A
c.753G>A (p.Met251Ile)
c.735G>A (p.Met245Ile)
c.633G>A (p.Met211Ile)
c.813G>A (p.Met271Ile)
c.915G>A (p.Met305Ile)
c.855G>A (p.Met285Ile)
n.4466C>T
c.738G>A (p.Met246Ile)
c.756G>A (p.Met252Ile)
c.546G>A (p.Met182Ile)
c.564G>A (p.Met188Ile)
 gnomAD v4
2g.127426119G>CCA348401127PROCc.570G>C (p.Met190Ile)
c.121-2238G>C
c.672G>C (p.Met224Ile)
c.513G>C (p.Met171Ile)
n.156G>C
c.753G>C (p.Met251Ile)
c.735G>C (p.Met245Ile)
c.633G>C (p.Met211Ile)
c.813G>C (p.Met271Ile)
c.915G>C (p.Met305Ile)
c.855G>C (p.Met285Ile)
n.4466C>G
c.738G>C (p.Met246Ile)
c.756G>C (p.Met252Ile)
c.546G>C (p.Met182Ile)
c.564G>C (p.Met188Ile)
2g.127426119G>TCA348401130PROCc.570G>T (p.Met190Ile)
c.121-2238G>T
c.672G>T (p.Met224Ile)
c.513G>T (p.Met171Ile)
n.156G>T
c.753G>T (p.Met251Ile)
c.735G>T (p.Met245Ile)
c.633G>T (p.Met211Ile)
c.813G>T (p.Met271Ile)
c.915G>T (p.Met305Ile)
c.855G>T (p.Met285Ile)
n.4466C>A
c.738G>T (p.Met246Ile)
c.756G>T (p.Met252Ile)
c.546G>T (p.Met182Ile)
c.564G>T (p.Met188Ile)
2g.127426120G>ACA348401133PROCc.571G>A (p.Glu191Lys)
c.121-2237G>A
c.673G>A (p.Glu225Lys)
c.514G>A (p.Glu172Lys)
n.157G>A
c.754G>A (p.Glu252Lys)
c.736G>A (p.Glu246Lys)
c.634G>A (p.Glu212Lys)
c.814G>A (p.Glu272Lys)
c.916G>A (p.Glu306Lys)
c.856G>A (p.Glu286Lys)
n.4465C>T
c.739G>A (p.Glu247Lys)
c.757G>A (p.Glu253Lys)
c.547G>A (p.Glu183Lys)
c.565G>A (p.Glu189Lys)
 gnomAD v4
2g.127426120G>CCA1859389PROCc.571G>C (p.Glu191Gln)
c.121-2237G>C
c.673G>C (p.Glu225Gln)
c.514G>C (p.Glu172Gln)
n.157G>C
c.754G>C (p.Glu252Gln)
c.736G>C (p.Glu246Gln)
c.634G>C (p.Glu212Gln)
c.814G>C (p.Glu272Gln)
c.916G>C (p.Glu306Gln)
c.856G>C (p.Glu286Gln)
n.4465C>G
c.739G>C (p.Glu247Gln)
c.757G>C (p.Glu253Gln)
c.547G>C (p.Glu183Gln)
c.565G>C (p.Glu189Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426120G=CA1286883411PROCc.571G= (p.Glu191=)
c.121-2237G=
c.673G= (p.Glu225=)
c.514G= (p.Glu172=)
n.157G=
c.754G= (p.Glu252=)
c.736G= (p.Glu246=)
c.634G= (p.Glu212=)
c.814G= (p.Glu272=)
c.916G= (p.Glu306=)
c.856G= (p.Glu286=)
n.4465C=
c.739G= (p.Glu247=)
c.757G= (p.Glu253=)
c.547G= (p.Glu183=)
c.565G= (p.Glu189=)
2g.127426120G>TCA348401135PROCc.571G>T (p.Glu191Ter)
c.121-2237G>T
c.673G>T (p.Glu225Ter)
c.514G>T (p.Glu172Ter)
n.157G>T
c.754G>T (p.Glu252Ter)
c.736G>T (p.Glu246Ter)
c.634G>T (p.Glu212Ter)
c.814G>T (p.Glu272Ter)
c.916G>T (p.Glu306Ter)
c.856G>T (p.Glu286Ter)
n.4465C>A
c.739G>T (p.Glu247Ter)
c.757G>T (p.Glu253Ter)
c.547G>T (p.Glu183Ter)
c.565G>T (p.Glu189Ter)
2g.127426120_127426123delinsGAGACA1286883410PROCc.571_574delinsGAGA (p.Glu191=)
c.121-2237_121-2234delinsGAGA
c.673_676delinsGAGA (p.Glu225=)
c.514_517delinsGAGA (p.Glu172=)
n.157_160delinsGAGA
c.754_757delinsGAGA (p.Glu252=)
c.736_739delinsGAGA (p.Glu246=)
c.634_637delinsGAGA (p.Glu212=)
c.814_817delinsGAGA (p.Glu272=)
c.916_919delinsGAGA (p.Glu306=)
c.856_859delinsGAGA (p.Glu286=)
n.4462_4465delinsTCTC
c.739_742delinsGAGA (p.Glu247=)
c.757_760delinsGAGA (p.Glu253=)
c.547_550delinsGAGA (p.Glu183=)
c.565_568delinsGAGA (p.Glu189=)
2g.127426121A>CCA348401151PROCc.572A>C (p.Glu191Ala)
c.121-2236A>C
c.674A>C (p.Glu225Ala)
c.515A>C (p.Glu172Ala)
n.158A>C
c.755A>C (p.Glu252Ala)
c.737A>C (p.Glu246Ala)
c.635A>C (p.Glu212Ala)
c.815A>C (p.Glu272Ala)
c.917A>C (p.Glu306Ala)
c.857A>C (p.Glu286Ala)
n.4464T>G
c.740A>C (p.Glu247Ala)
c.758A>C (p.Glu253Ala)
c.548A>C (p.Glu183Ala)
c.566A>C (p.Glu189Ala)
2g.127426121A>GCA348401149PROCc.572A>G (p.Glu191Gly)
c.121-2236A>G
c.674A>G (p.Glu225Gly)
c.515A>G (p.Glu172Gly)
n.158A>G
c.755A>G (p.Glu252Gly)
c.737A>G (p.Glu246Gly)
c.635A>G (p.Glu212Gly)
c.815A>G (p.Glu272Gly)
c.917A>G (p.Glu306Gly)
c.857A>G (p.Glu286Gly)
n.4464T>C
c.740A>G (p.Glu247Gly)
c.758A>G (p.Glu253Gly)
c.548A>G (p.Glu183Gly)
c.566A>G (p.Glu189Gly)
2g.127426121A>TCA348401147PROCc.572A>T (p.Glu191Val)
c.121-2236A>T
c.674A>T (p.Glu225Val)
c.515A>T (p.Glu172Val)
n.158A>T
c.755A>T (p.Glu252Val)
c.737A>T (p.Glu246Val)
c.635A>T (p.Glu212Val)
c.815A>T (p.Glu272Val)
c.917A>T (p.Glu306Val)
c.857A>T (p.Glu286Val)
n.4464T>A
c.740A>T (p.Glu247Val)
c.758A>T (p.Glu253Val)
c.548A>T (p.Glu183Val)
c.566A>T (p.Glu189Val)
2g.127426126_127426128dupCA1286883412PROCc.577_579dup (p.Lys193_Arg194insLys)
c.121-2231_121-2229dup
c.679_681dup (p.Lys227_Arg228insLys)
c.520_522dup (p.Lys174_Arg175insLys)
n.163_165dup
c.760_762dup (p.Lys254_Arg255insLys)
c.742_744dup (p.Lys248_Arg249insLys)
c.640_642dup (p.Lys214_Arg215insLys)
c.820_822dup (p.Lys274_Arg275insLys)
c.922_924dup (p.Lys308_Arg309insLys)
c.862_864dup (p.Lys288_Arg289insLys)
n.4462_4464dup
c.745_747dup (p.Lys249_Arg250insLys)
c.763_765dup (p.Lys255_Arg256insLys)
c.553_555dup (p.Lys185_Arg186insLys)
c.571_573dup (p.Lys191_Arg192insLys)
 dbSNP
2g.127426126_127426128delCA1859388PROCc.577_579del (p.Lys193del)
c.121-2231_121-2229del
c.679_681del (p.Lys227del)
c.520_522del (p.Lys174del)
n.163_165del
c.760_762del (p.Lys254del)
c.742_744del (p.Lys248del)
c.640_642del (p.Lys214del)
c.820_822del (p.Lys274del)
c.922_924del (p.Lys308del)
c.862_864del (p.Lys288del)
n.4462_4464del
c.745_747del (p.Lys249del)
c.763_765del (p.Lys255del)
c.553_555del (p.Lys185del)
c.571_573del (p.Lys191del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426122G>ACA428618219PROCc.573G>A (p.Glu191=)
c.121-2235G>A
c.675G>A (p.Glu225=)
c.516G>A (p.Glu172=)
n.159G>A
c.756G>A (p.Glu252=)
c.738G>A (p.Glu246=)
c.636G>A (p.Glu212=)
c.816G>A (p.Glu272=)
c.918G>A (p.Glu306=)
c.858G>A (p.Glu286=)
n.4463C>T
c.741G>A (p.Glu247=)
c.759G>A (p.Glu253=)
c.549G>A (p.Glu183=)
c.567G>A (p.Glu189=)
 dbSNP gnomAD v2 gnomAD v4
2g.127426122G>CCA348401154PROCc.573G>C (p.Glu191Asp)
c.121-2235G>C
c.675G>C (p.Glu225Asp)
c.516G>C (p.Glu172Asp)
n.159G>C
c.756G>C (p.Glu252Asp)
c.738G>C (p.Glu246Asp)
c.636G>C (p.Glu212Asp)
c.816G>C (p.Glu272Asp)
c.918G>C (p.Glu306Asp)
c.858G>C (p.Glu286Asp)
n.4463C>G
c.741G>C (p.Glu247Asp)
c.759G>C (p.Glu253Asp)
c.549G>C (p.Glu183Asp)
c.567G>C (p.Glu189Asp)
2g.127426122G=CA1286883413PROCc.573G= (p.Glu191=)
c.121-2235G=
c.675G= (p.Glu225=)
c.516G= (p.Glu172=)
n.159G=
c.756G= (p.Glu252=)
c.738G= (p.Glu246=)
c.636G= (p.Glu212=)
c.816G= (p.Glu272=)
c.918G= (p.Glu306=)
c.858G= (p.Glu286=)
n.4463C=
c.741G= (p.Glu247=)
c.759G= (p.Glu253=)
c.549G= (p.Glu183=)
c.567G= (p.Glu189=)
2g.127426122G>TCA348401155PROCc.573G>T (p.Glu191Asp)
c.121-2235G>T
c.675G>T (p.Glu225Asp)
c.516G>T (p.Glu172Asp)
n.159G>T
c.756G>T (p.Glu252Asp)
c.738G>T (p.Glu246Asp)
c.636G>T (p.Glu212Asp)
c.816G>T (p.Glu272Asp)
c.918G>T (p.Glu306Asp)
c.858G>T (p.Glu286Asp)
n.4463C>A
c.741G>T (p.Glu247Asp)
c.759G>T (p.Glu253Asp)
c.549G>T (p.Glu183Asp)
c.567G>T (p.Glu189Asp)
2g.127426123A>CCA348401157PROCc.574A>C (p.Lys192Gln)
c.121-2234A>C
c.676A>C (p.Lys226Gln)
c.517A>C (p.Lys173Gln)
n.160A>C
c.757A>C (p.Lys253Gln)
c.739A>C (p.Lys247Gln)
c.637A>C (p.Lys213Gln)
c.817A>C (p.Lys273Gln)
c.919A>C (p.Lys307Gln)
c.859A>C (p.Lys287Gln)
n.4462T>G
c.742A>C (p.Lys248Gln)
c.760A>C (p.Lys254Gln)
c.550A>C (p.Lys184Gln)
c.568A>C (p.Lys190Gln)
2g.127426123A>GCA348401161PROCc.574A>G (p.Lys192Glu)
c.121-2234A>G
c.676A>G (p.Lys226Glu)
c.517A>G (p.Lys173Glu)
n.160A>G
c.757A>G (p.Lys253Glu)
c.739A>G (p.Lys247Glu)
c.637A>G (p.Lys213Glu)
c.817A>G (p.Lys273Glu)
c.919A>G (p.Lys307Glu)
c.859A>G (p.Lys287Glu)
n.4462T>C
c.742A>G (p.Lys248Glu)
c.760A>G (p.Lys254Glu)
c.550A>G (p.Lys184Glu)
c.568A>G (p.Lys190Glu)
2g.127426123A>TCA348401163PROCc.574A>T (p.Lys192Ter)
c.121-2234A>T
c.676A>T (p.Lys226Ter)
c.517A>T (p.Lys173Ter)
n.160A>T
c.757A>T (p.Lys253Ter)
c.739A>T (p.Lys247Ter)
c.637A>T (p.Lys213Ter)
c.817A>T (p.Lys273Ter)
c.919A>T (p.Lys307Ter)
c.859A>T (p.Lys287Ter)
n.4462T>A
c.742A>T (p.Lys248Ter)
c.760A>T (p.Lys254Ter)
c.550A>T (p.Lys184Ter)
c.568A>T (p.Lys190Ter)
2g.127426124A>CCA348401167PROCc.575A>C (p.Lys192Thr)
c.121-2233A>C
c.677A>C (p.Lys226Thr)
c.518A>C (p.Lys173Thr)
n.161A>C
c.758A>C (p.Lys253Thr)
c.740A>C (p.Lys247Thr)
c.638A>C (p.Lys213Thr)
c.818A>C (p.Lys273Thr)
c.920A>C (p.Lys307Thr)
c.860A>C (p.Lys287Thr)
n.4461T>G
c.743A>C (p.Lys248Thr)
c.761A>C (p.Lys254Thr)
c.551A>C (p.Lys184Thr)
c.569A>C (p.Lys190Thr)
2g.127426124A>GCA348401169PROCc.575A>G (p.Lys192Arg)
c.121-2233A>G
c.677A>G (p.Lys226Arg)
c.518A>G (p.Lys173Arg)
n.161A>G
c.758A>G (p.Lys253Arg)
c.740A>G (p.Lys247Arg)
c.638A>G (p.Lys213Arg)
c.818A>G (p.Lys273Arg)
c.920A>G (p.Lys307Arg)
c.860A>G (p.Lys287Arg)
n.4461T>C
c.743A>G (p.Lys248Arg)
c.761A>G (p.Lys254Arg)
c.551A>G (p.Lys184Arg)
c.569A>G (p.Lys190Arg)
2g.127426124A>TCA348401171PROCc.575A>T (p.Lys192Met)
c.121-2233A>T
c.677A>T (p.Lys226Met)
c.518A>T (p.Lys173Met)
n.161A>T
c.758A>T (p.Lys253Met)
c.740A>T (p.Lys247Met)
c.638A>T (p.Lys213Met)
c.818A>T (p.Lys273Met)
c.920A>T (p.Lys307Met)
c.860A>T (p.Lys287Met)
n.4461T>A
c.743A>T (p.Lys248Met)
c.761A>T (p.Lys254Met)
c.551A>T (p.Lys184Met)
c.569A>T (p.Lys190Met)
2g.127426125G>ACA428618225PROCc.576G>A (p.Lys192=)
c.121-2232G>A
c.678G>A (p.Lys226=)
c.519G>A (p.Lys173=)
n.162G>A
c.759G>A (p.Lys253=)
c.741G>A (p.Lys247=)
c.639G>A (p.Lys213=)
c.819G>A (p.Lys273=)
c.921G>A (p.Lys307=)
c.861G>A (p.Lys287=)
n.4460C>T
c.744G>A (p.Lys248=)
c.762G>A (p.Lys254=)
c.552G>A (p.Lys184=)
c.570G>A (p.Lys190=)
2g.127426125G>CCA348401173PROCc.576G>C (p.Lys192Asn)
c.121-2232G>C
c.678G>C (p.Lys226Asn)
c.519G>C (p.Lys173Asn)
n.162G>C
c.759G>C (p.Lys253Asn)
c.741G>C (p.Lys247Asn)
c.639G>C (p.Lys213Asn)
c.819G>C (p.Lys273Asn)
c.921G>C (p.Lys307Asn)
c.861G>C (p.Lys287Asn)
n.4460C>G
c.744G>C (p.Lys248Asn)
c.762G>C (p.Lys254Asn)
c.552G>C (p.Lys184Asn)
c.570G>C (p.Lys190Asn)
2g.127426125G>TCA348401174PROCc.576G>T (p.Lys192Asn)
c.121-2232G>T
c.678G>T (p.Lys226Asn)
c.519G>T (p.Lys173Asn)
n.162G>T
c.759G>T (p.Lys253Asn)
c.741G>T (p.Lys247Asn)
c.639G>T (p.Lys213Asn)
c.819G>T (p.Lys273Asn)
c.921G>T (p.Lys307Asn)
c.861G>T (p.Lys287Asn)
n.4460C>A
c.744G>T (p.Lys248Asn)
c.762G>T (p.Lys254Asn)
c.552G>T (p.Lys184Asn)
c.570G>T (p.Lys190Asn)
2g.127426126A=CA1286883414PROCc.577A= (p.Lys193=)
c.121-2231A=
c.679A= (p.Lys227=)
c.520A= (p.Lys174=)
n.163A=
c.760A= (p.Lys254=)
c.742A= (p.Lys248=)
c.640A= (p.Lys214=)
c.820A= (p.Lys274=)
c.922A= (p.Lys308=)
c.862A= (p.Lys288=)
n.4459T=
c.745A= (p.Lys249=)
c.763A= (p.Lys255=)
c.553A= (p.Lys185=)
c.571A= (p.Lys191=)
2g.127426126A>CCA1859390PROCc.577A>C (p.Lys193Gln)
c.121-2231A>C
c.679A>C (p.Lys227Gln)
c.520A>C (p.Lys174Gln)
n.163A>C
c.760A>C (p.Lys254Gln)
c.742A>C (p.Lys248Gln)
c.640A>C (p.Lys214Gln)
c.820A>C (p.Lys274Gln)
c.922A>C (p.Lys308Gln)
c.862A>C (p.Lys288Gln)
n.4459T>G
c.745A>C (p.Lys249Gln)
c.763A>C (p.Lys255Gln)
c.553A>C (p.Lys185Gln)
c.571A>C (p.Lys191Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426126A>GCA348401180PROCc.577A>G (p.Lys193Glu)
c.121-2231A>G
c.679A>G (p.Lys227Glu)
c.520A>G (p.Lys174Glu)
n.163A>G
c.760A>G (p.Lys254Glu)
c.742A>G (p.Lys248Glu)
c.640A>G (p.Lys214Glu)
c.820A>G (p.Lys274Glu)
c.922A>G (p.Lys308Glu)
c.862A>G (p.Lys288Glu)
n.4459T>C
c.745A>G (p.Lys249Glu)
c.763A>G (p.Lys255Glu)
c.553A>G (p.Lys185Glu)
c.571A>G (p.Lys191Glu)
2g.127426126A>TCA348401182PROCc.577A>T (p.Lys193Ter)
c.121-2231A>T
c.679A>T (p.Lys227Ter)
c.520A>T (p.Lys174Ter)
n.163A>T
c.760A>T (p.Lys254Ter)
c.742A>T (p.Lys248Ter)
c.640A>T (p.Lys214Ter)
c.820A>T (p.Lys274Ter)
c.922A>T (p.Lys308Ter)
c.862A>T (p.Lys288Ter)
n.4459T>A
c.745A>T (p.Lys249Ter)
c.763A>T (p.Lys255Ter)
c.553A>T (p.Lys185Ter)
c.571A>T (p.Lys191Ter)
2g.127426127A>CCA348401192PROCc.578A>C (p.Lys193Thr)
c.121-2230A>C
c.680A>C (p.Lys227Thr)
c.521A>C (p.Lys174Thr)
n.164A>C
c.761A>C (p.Lys254Thr)
c.743A>C (p.Lys248Thr)
c.641A>C (p.Lys214Thr)
c.821A>C (p.Lys274Thr)
c.923A>C (p.Lys308Thr)
c.863A>C (p.Lys288Thr)
n.4458T>G
c.746A>C (p.Lys249Thr)
c.764A>C (p.Lys255Thr)
c.554A>C (p.Lys185Thr)
c.572A>C (p.Lys191Thr)
2g.127426127A>GCA348401194PROCc.578A>G (p.Lys193Arg)
c.121-2230A>G
c.680A>G (p.Lys227Arg)
c.521A>G (p.Lys174Arg)
n.164A>G
c.761A>G (p.Lys254Arg)
c.743A>G (p.Lys248Arg)
c.641A>G (p.Lys214Arg)
c.821A>G (p.Lys274Arg)
c.923A>G (p.Lys308Arg)
c.863A>G (p.Lys288Arg)
n.4458T>C
c.746A>G (p.Lys249Arg)
c.764A>G (p.Lys255Arg)
c.554A>G (p.Lys185Arg)
c.572A>G (p.Lys191Arg)
2g.127426127A>TCA348401197PROCc.578A>T (p.Lys193Met)
c.121-2230A>T
c.680A>T (p.Lys227Met)
c.521A>T (p.Lys174Met)
n.164A>T
c.761A>T (p.Lys254Met)
c.743A>T (p.Lys248Met)
c.641A>T (p.Lys214Met)
c.821A>T (p.Lys274Met)
c.923A>T (p.Lys308Met)
c.863A>T (p.Lys288Met)
n.4458T>A
c.746A>T (p.Lys249Met)
c.764A>T (p.Lys255Met)
c.554A>T (p.Lys185Met)
c.572A>T (p.Lys191Met)
2g.127426128G>ACA428618232PROCc.579G>A (p.Lys193=)
c.121-2229G>A
c.681G>A (p.Lys227=)
c.522G>A (p.Lys174=)
n.165G>A
c.762G>A (p.Lys254=)
c.744G>A (p.Lys248=)
c.642G>A (p.Lys214=)
c.822G>A (p.Lys274=)
c.924G>A (p.Lys308=)
c.864G>A (p.Lys288=)
n.4457C>T
c.747G>A (p.Lys249=)
c.765G>A (p.Lys255=)
c.555G>A (p.Lys185=)
c.573G>A (p.Lys191=)
 dbSNP gnomAD v4
2g.127426128G>CCA348401199PROCc.579G>C (p.Lys193Asn)
c.121-2229G>C
c.681G>C (p.Lys227Asn)
c.522G>C (p.Lys174Asn)
n.165G>C
c.762G>C (p.Lys254Asn)
c.744G>C (p.Lys248Asn)
c.642G>C (p.Lys214Asn)
c.822G>C (p.Lys274Asn)
c.924G>C (p.Lys308Asn)
c.864G>C (p.Lys288Asn)
n.4457C>G
c.747G>C (p.Lys249Asn)
c.765G>C (p.Lys255Asn)
c.555G>C (p.Lys185Asn)
c.573G>C (p.Lys191Asn)
2g.127426128G=CA1286883415PROCc.579G= (p.Lys193=)
c.121-2229G=
c.681G= (p.Lys227=)
c.522G= (p.Lys174=)
n.165G=
c.762G= (p.Lys254=)
c.744G= (p.Lys248=)
c.642G= (p.Lys214=)
c.822G= (p.Lys274=)
c.924G= (p.Lys308=)
c.864G= (p.Lys288=)
n.4457C=
c.747G= (p.Lys249=)
c.765G= (p.Lys255=)
c.555G= (p.Lys185=)
c.573G= (p.Lys191=)
2g.127426128G>TCA348401201PROCc.579G>T (p.Lys193Asn)
c.121-2229G>T
c.681G>T (p.Lys227Asn)
c.522G>T (p.Lys174Asn)
n.165G>T
c.762G>T (p.Lys254Asn)
c.744G>T (p.Lys248Asn)
c.642G>T (p.Lys214Asn)
c.822G>T (p.Lys274Asn)
c.924G>T (p.Lys308Asn)
c.864G>T (p.Lys288Asn)
n.4457C>A
c.747G>T (p.Lys249Asn)
c.765G>T (p.Lys255Asn)
c.555G>T (p.Lys185Asn)
c.573G>T (p.Lys191Asn)
2g.127426129C>ACA348401204PROCc.580C>A (p.Arg194Ser)
c.121-2228C>A
c.682C>A (p.Arg228Ser)
c.523C>A (p.Arg175Ser)
n.166C>A
c.763C>A (p.Arg255Ser)
c.745C>A (p.Arg249Ser)
c.643C>A (p.Arg215Ser)
c.823C>A (p.Arg275Ser)
c.925C>A (p.Arg309Ser)
c.865C>A (p.Arg289Ser)
n.4456G>T
c.748C>A (p.Arg250Ser)
c.766C>A (p.Arg256Ser)
c.556C>A (p.Arg186Ser)
c.574C>A (p.Arg192Ser)
2g.127426129C=CA1286883416PROCc.580C= (p.Arg194=)
c.121-2228C=
c.682C= (p.Arg228=)
c.523C= (p.Arg175=)
n.166C=
c.763C= (p.Arg255=)
c.745C= (p.Arg249=)
c.643C= (p.Arg215=)
c.823C= (p.Arg275=)
c.925C= (p.Arg309=)
c.865C= (p.Arg289=)
n.4456G=
c.748C= (p.Arg250=)
c.766C= (p.Arg256=)
c.556C= (p.Arg186=)
c.574C= (p.Arg192=)
2g.127426129C>GCA348401207PROCc.580C>G (p.Arg194Gly)
c.121-2228C>G
c.682C>G (p.Arg228Gly)
c.523C>G (p.Arg175Gly)
n.166C>G
c.763C>G (p.Arg255Gly)
c.745C>G (p.Arg249Gly)
c.643C>G (p.Arg215Gly)
c.823C>G (p.Arg275Gly)
c.925C>G (p.Arg309Gly)
c.865C>G (p.Arg289Gly)
n.4456G>C
c.748C>G (p.Arg250Gly)
c.766C>G (p.Arg256Gly)
c.556C>G (p.Arg186Gly)
c.574C>G (p.Arg192Gly)
2g.127426129C>TCA211724PROCc.580C>T (p.Arg194Cys)
c.121-2228C>T
c.682C>T (p.Arg228Cys)
c.523C>T (p.Arg175Cys)
n.166C>T
c.763C>T (p.Arg255Cys)
c.745C>T (p.Arg249Cys)
c.643C>T (p.Arg215Cys)
c.823C>T (p.Arg275Cys)
c.925C>T (p.Arg309Cys)
c.865C>T (p.Arg289Cys)
n.4456G>A
c.748C>T (p.Arg250Cys)
c.766C>T (p.Arg256Cys)
c.556C>T (p.Arg186Cys)
c.574C>T (p.Arg192Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426130G>ACA1859391PROCc.581G>A (p.Arg194His)
c.121-2227G>A
c.683G>A (p.Arg228His)
c.524G>A (p.Arg175His)
n.167G>A
c.764G>A (p.Arg255His)
c.746G>A (p.Arg249His)
c.644G>A (p.Arg215His)
c.824G>A (p.Arg275His)
c.926G>A (p.Arg309His)
c.866G>A (p.Arg289His)
n.4455C>T
c.749G>A (p.Arg250His)
c.767G>A (p.Arg256His)
c.557G>A (p.Arg186His)
c.575G>A (p.Arg192His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127426130G>CCA348401210PROCc.581G>C (p.Arg194Pro)
c.121-2227G>C
c.683G>C (p.Arg228Pro)
c.524G>C (p.Arg175Pro)
n.167G>C
c.764G>C (p.Arg255Pro)
c.746G>C (p.Arg249Pro)
c.644G>C (p.Arg215Pro)
c.824G>C (p.Arg275Pro)
c.926G>C (p.Arg309Pro)
c.866G>C (p.Arg289Pro)
n.4455C>G
c.749G>C (p.Arg250Pro)
c.767G>C (p.Arg256Pro)
c.557G>C (p.Arg186Pro)
c.575G>C (p.Arg192Pro)
2g.127426130G=CA1286883417PROCc.581G= (p.Arg194=)
c.121-2227G=
c.683G= (p.Arg228=)
c.524G= (p.Arg175=)
n.167G=
c.764G= (p.Arg255=)
c.746G= (p.Arg249=)
c.644G= (p.Arg215=)
c.824G= (p.Arg275=)
c.926G= (p.Arg309=)
c.866G= (p.Arg289=)
n.4455C=
c.749G= (p.Arg250=)
c.767G= (p.Arg256=)
c.557G= (p.Arg186=)
c.575G= (p.Arg192=)
2g.127426130G>TCA55348271PROCc.581G>T (p.Arg194Leu)
c.121-2227G>T
c.683G>T (p.Arg228Leu)
c.524G>T (p.Arg175Leu)
n.167G>T
c.764G>T (p.Arg255Leu)
c.746G>T (p.Arg249Leu)
c.644G>T (p.Arg215Leu)
c.824G>T (p.Arg275Leu)
c.926G>T (p.Arg309Leu)
c.866G>T (p.Arg289Leu)
n.4455C>A
c.749G>T (p.Arg250Leu)
c.767G>T (p.Arg256Leu)
c.557G>T (p.Arg186Leu)
c.575G>T (p.Arg192Leu)
 dbSNP
2g.127426131C>ACA428618234PROCc.582C>A (p.Arg194=)
c.121-2226C>A
c.684C>A (p.Arg228=)
c.525C>A (p.Arg175=)
n.168C>A
c.765C>A (p.Arg255=)
c.747C>A (p.Arg249=)
c.645C>A (p.Arg215=)
c.825C>A (p.Arg275=)
c.927C>A (p.Arg309=)
c.867C>A (p.Arg289=)
n.4454G>T
c.750C>A (p.Arg250=)
c.768C>A (p.Arg256=)
c.558C>A (p.Arg186=)
c.576C>A (p.Arg192=)
2g.127426131C=CA1286883418PROCc.582C= (p.Arg194=)
c.121-2226C=
c.684C= (p.Arg228=)
c.525C= (p.Arg175=)
n.168C=
c.765C= (p.Arg255=)
c.747C= (p.Arg249=)
c.645C= (p.Arg215=)
c.825C= (p.Arg275=)
c.927C= (p.Arg309=)
c.867C= (p.Arg289=)
n.4454G=
c.750C= (p.Arg250=)
c.768C= (p.Arg256=)
c.558C= (p.Arg186=)
c.576C= (p.Arg192=)
2g.127426131C>GCA428618236PROCc.582C>G (p.Arg194=)
c.121-2226C>G
c.684C>G (p.Arg228=)
c.525C>G (p.Arg175=)
n.168C>G
c.765C>G (p.Arg255=)
c.747C>G (p.Arg249=)
c.645C>G (p.Arg215=)
c.825C>G (p.Arg275=)
c.927C>G (p.Arg309=)
c.867C>G (p.Arg289=)
n.4454G>C
c.750C>G (p.Arg250=)
c.768C>G (p.Arg256=)
c.558C>G (p.Arg186=)
c.576C>G (p.Arg192=)
2g.127426131C>TCA428618235PROCc.582C>T (p.Arg194=)
c.121-2226C>T
c.684C>T (p.Arg228=)
c.525C>T (p.Arg175=)
n.168C>T
c.765C>T (p.Arg255=)
c.747C>T (p.Arg249=)
c.645C>T (p.Arg215=)
c.825C>T (p.Arg275=)
c.927C>T (p.Arg309=)
c.867C>T (p.Arg289=)
n.4454G>A
c.750C>T (p.Arg250=)
c.768C>T (p.Arg256=)
c.558C>T (p.Arg186=)
c.576C>T (p.Arg192=)
 dbSNP gnomAD v2 gnomAD v4
2g.127426132A=CA1286883419PROCc.583A= (p.Ser195=)
c.121-2225A=
c.685A= (p.Ser229=)
n.169A=
c.766A= (p.Ser256=)
c.748A= (p.Ser250=)
c.646A= (p.Ser216=)
c.826A= (p.Ser276=)
c.928A= (p.Ser310=)
c.868A= (p.Ser290=)
n.4453T=
c.751A= (p.Ser251=)
c.769A= (p.Ser257=)
c.526A= (p.Ser176=)
c.559A= (p.Ser187=)
c.577A= (p.Ser193=)
2g.127426132A>CCA348401219PROCc.583A>C (p.Ser195Arg)
c.121-2225A>C
c.685A>C (p.Ser229Arg)
n.169A>C
c.766A>C (p.Ser256Arg)
c.748A>C (p.Ser250Arg)
c.646A>C (p.Ser216Arg)
c.826A>C (p.Ser276Arg)
c.928A>C (p.Ser310Arg)
c.868A>C (p.Ser290Arg)
n.4453T>G
c.751A>C (p.Ser251Arg)
c.769A>C (p.Ser257Arg)
c.526A>C (p.Ser176Arg)
c.559A>C (p.Ser187Arg)
c.577A>C (p.Ser193Arg)
2g.127426132A>GCA348401215PROCc.583A>G (p.Ser195Gly)
c.121-2225A>G
c.685A>G (p.Ser229Gly)
n.169A>G
c.766A>G (p.Ser256Gly)
c.748A>G (p.Ser250Gly)
c.646A>G (p.Ser216Gly)
c.826A>G (p.Ser276Gly)
c.928A>G (p.Ser310Gly)
c.868A>G (p.Ser290Gly)
n.4453T>C
c.751A>G (p.Ser251Gly)
c.769A>G (p.Ser257Gly)
c.526A>G (p.Ser176Gly)
c.559A>G (p.Ser187Gly)
c.577A>G (p.Ser193Gly)
 dbSNP gnomAD v4
2g.127426132A>TCA348401218PROCc.583A>T (p.Ser195Cys)
c.121-2225A>T
c.685A>T (p.Ser229Cys)
n.169A>T
c.766A>T (p.Ser256Cys)
c.748A>T (p.Ser250Cys)
c.646A>T (p.Ser216Cys)
c.826A>T (p.Ser276Cys)
c.928A>T (p.Ser310Cys)
c.868A>T (p.Ser290Cys)
n.4453T>A
c.751A>T (p.Ser251Cys)
c.769A>T (p.Ser257Cys)
c.526A>T (p.Ser176Cys)
c.559A>T (p.Ser187Cys)
c.577A>T (p.Ser193Cys)
2g.127426133G>ACA348401220PROCc.584G>A (p.Ser195Asn)
c.121-2224G>A
c.686G>A (p.Ser229Asn)
n.170G>A
c.767G>A (p.Ser256Asn)
c.749G>A (p.Ser250Asn)
c.647G>A (p.Ser216Asn)
c.827G>A (p.Ser276Asn)
c.929G>A (p.Ser310Asn)
c.869G>A (p.Ser290Asn)
n.4452C>T
c.752G>A (p.Ser251Asn)
c.770G>A (p.Ser257Asn)
c.527G>A (p.Ser176Asn)
c.560G>A (p.Ser187Asn)
c.578G>A (p.Ser193Asn)
2g.127426133G>CCA348401222PROCc.584G>C (p.Ser195Thr)
c.121-2224G>C
c.686G>C (p.Ser229Thr)
n.170G>C
c.767G>C (p.Ser256Thr)
c.749G>C (p.Ser250Thr)
c.647G>C (p.Ser216Thr)
c.827G>C (p.Ser276Thr)
c.929G>C (p.Ser310Thr)
c.869G>C (p.Ser290Thr)
n.4452C>G
c.752G>C (p.Ser251Thr)
c.770G>C (p.Ser257Thr)
c.527G>C (p.Ser176Thr)
c.560G>C (p.Ser187Thr)
c.578G>C (p.Ser193Thr)
2g.127426133G>TCA348401225PROCc.584G>T (p.Ser195Ile)
c.121-2224G>T
c.686G>T (p.Ser229Ile)
n.170G>T
c.767G>T (p.Ser256Ile)
c.749G>T (p.Ser250Ile)
c.647G>T (p.Ser216Ile)
c.827G>T (p.Ser276Ile)
c.929G>T (p.Ser310Ile)
c.869G>T (p.Ser290Ile)
n.4452C>A
c.752G>T (p.Ser251Ile)
c.770G>T (p.Ser257Ile)
c.527G>T (p.Ser176Ile)
c.560G>T (p.Ser187Ile)
c.578G>T (p.Ser193Ile)
2g.127426134T>ACA348401227PROCc.585T>A (p.Ser195Arg)
c.121-2223T>A
c.687T>A (p.Ser229Arg)
n.171T>A
c.768T>A (p.Ser256Arg)
c.750T>A (p.Ser250Arg)
c.648T>A (p.Ser216Arg)
c.828T>A (p.Ser276Arg)
c.930T>A (p.Ser310Arg)
c.870T>A (p.Ser290Arg)
n.4451A>T
c.753T>A (p.Ser251Arg)
c.771T>A (p.Ser257Arg)
c.528T>A (p.Ser176Arg)
c.561T>A (p.Ser187Arg)
c.579T>A (p.Ser193Arg)
2g.127426134T>CCA428618240PROCc.585T>C (p.Ser195=)
c.121-2223T>C
c.687T>C (p.Ser229=)
n.171T>C
c.768T>C (p.Ser256=)
c.750T>C (p.Ser250=)
c.648T>C (p.Ser216=)
c.828T>C (p.Ser276=)
c.930T>C (p.Ser310=)
c.870T>C (p.Ser290=)
n.4451A>G
c.753T>C (p.Ser251=)
c.771T>C (p.Ser257=)
c.528T>C (p.Ser176=)
c.561T>C (p.Ser187=)
c.579T>C (p.Ser193=)
2g.127426134T>GCA348401229PROCc.585T>G (p.Ser195Arg)
c.121-2223T>G
c.687T>G (p.Ser229Arg)
n.171T>G
c.768T>G (p.Ser256Arg)
c.750T>G (p.Ser250Arg)
c.648T>G (p.Ser216Arg)
c.828T>G (p.Ser276Arg)
c.930T>G (p.Ser310Arg)
c.870T>G (p.Ser290Arg)
n.4451A>C
c.753T>G (p.Ser251Arg)
c.771T>G (p.Ser257Arg)
c.528T>G (p.Ser176Arg)
c.561T>G (p.Ser187Arg)
c.579T>G (p.Ser193Arg)
2g.127426135C>ACA348401231PROCc.586C>A (p.His196Asn)
c.121-2222C>A
c.688C>A (p.His230Asn)
n.172C>A
c.769C>A (p.His257Asn)
c.751C>A (p.His251Asn)
c.649C>A (p.His217Asn)
c.829C>A (p.His277Asn)
c.931C>A (p.His311Asn)
c.871C>A (p.His291Asn)
n.4450G>T
c.754C>A (p.His252Asn)
c.772C>A (p.His258Asn)
c.529C>A (p.His177Asn)
c.562C>A (p.His188Asn)
c.580C>A (p.His194Asn)
2g.127426135C>GCA348401233PROCc.586C>G (p.His196Asp)
c.121-2222C>G
c.688C>G (p.His230Asp)
n.172C>G
c.769C>G (p.His257Asp)
c.751C>G (p.His251Asp)
c.649C>G (p.His217Asp)
c.829C>G (p.His277Asp)
c.931C>G (p.His311Asp)
c.871C>G (p.His291Asp)
n.4450G>C
c.754C>G (p.His252Asp)
c.772C>G (p.His258Asp)
c.529C>G (p.His177Asp)
c.562C>G (p.His188Asp)
c.580C>G (p.His194Asp)
2g.127426135C>TCA348401235PROCc.586C>T (p.His196Tyr)
c.121-2222C>T
c.688C>T (p.His230Tyr)
n.172C>T
c.769C>T (p.His257Tyr)
c.751C>T (p.His251Tyr)
c.649C>T (p.His217Tyr)
c.829C>T (p.His277Tyr)
c.931C>T (p.His311Tyr)
c.871C>T (p.His291Tyr)
n.4450G>A
c.754C>T (p.His252Tyr)
c.772C>T (p.His258Tyr)
c.529C>T (p.His177Tyr)
c.562C>T (p.His188Tyr)
c.580C>T (p.His194Tyr)
2g.127426136A>CCA348401238PROCc.587A>C (p.His196Pro)
c.121-2221A>C
c.689A>C (p.His230Pro)
n.173A>C
c.770A>C (p.His257Pro)
c.752A>C (p.His251Pro)
c.650A>C (p.His217Pro)
c.830A>C (p.His277Pro)
c.932A>C (p.His311Pro)
c.872A>C (p.His291Pro)
n.4449T>G
c.755A>C (p.His252Pro)
c.773A>C (p.His258Pro)
c.530A>C (p.His177Pro)
c.563A>C (p.His188Pro)
c.581A>C (p.His194Pro)
2g.127426136A>GCA348401240PROCc.587A>G (p.His196Arg)
c.121-2221A>G
c.689A>G (p.His230Arg)
n.173A>G
c.770A>G (p.His257Arg)
c.752A>G (p.His251Arg)
c.650A>G (p.His217Arg)
c.830A>G (p.His277Arg)
c.932A>G (p.His311Arg)
c.872A>G (p.His291Arg)
n.4449T>C
c.755A>G (p.His252Arg)
c.773A>G (p.His258Arg)
c.530A>G (p.His177Arg)
c.563A>G (p.His188Arg)
c.581A>G (p.His194Arg)
2g.127426136A>TCA348401242PROCc.587A>T (p.His196Leu)
c.121-2221A>T
c.689A>T (p.His230Leu)
n.173A>T
c.770A>T (p.His257Leu)
c.752A>T (p.His251Leu)
c.650A>T (p.His217Leu)
c.830A>T (p.His277Leu)
c.932A>T (p.His311Leu)
c.872A>T (p.His291Leu)
n.4449T>A
c.755A>T (p.His252Leu)
c.773A>T (p.His258Leu)
c.530A>T (p.His177Leu)
c.563A>T (p.His188Leu)
c.581A>T (p.His194Leu)
2g.127426137C>ACA348401246PROCc.588C>A (p.His196Gln)
c.121-2220C>A
c.690C>A (p.His230Gln)
n.174C>A
c.771C>A (p.His257Gln)
c.753C>A (p.His251Gln)
c.651C>A (p.His217Gln)
c.831C>A (p.His277Gln)
c.933C>A (p.His311Gln)
c.873C>A (p.His291Gln)
n.4448G>T
c.756C>A (p.His252Gln)
c.774C>A (p.His258Gln)
c.531C>A (p.His177Gln)
c.564C>A (p.His188Gln)
c.582C>A (p.His194Gln)
 gnomAD v4
2g.127426137C=CA1286883420PROCc.588C= (p.His196=)
c.121-2220C=
c.690C= (p.His230=)
n.174C=
c.771C= (p.His257=)
c.753C= (p.His251=)
c.651C= (p.His217=)
c.831C= (p.His277=)
c.933C= (p.His311=)
c.873C= (p.His291=)
n.4448G=
c.756C= (p.His252=)
c.774C= (p.His258=)
c.531C= (p.His177=)
c.564C= (p.His188=)
c.582C= (p.His194=)
2g.127426137C>GCA348401249PROCc.588C>G (p.His196Gln)
c.121-2220C>G
c.690C>G (p.His230Gln)
n.174C>G
c.771C>G (p.His257Gln)
c.753C>G (p.His251Gln)
c.651C>G (p.His217Gln)
c.831C>G (p.His277Gln)
c.933C>G (p.His311Gln)
c.873C>G (p.His291Gln)
n.4448G>C
c.756C>G (p.His252Gln)
c.774C>G (p.His258Gln)
c.531C>G (p.His177Gln)
c.564C>G (p.His188Gln)
c.582C>G (p.His194Gln)
2g.127426137C>TCA1859392PROCc.588C>T (p.His196=)
c.121-2220C>T
c.690C>T (p.His230=)
n.174C>T
c.771C>T (p.His257=)
c.753C>T (p.His251=)
c.651C>T (p.His217=)
c.831C>T (p.His277=)
c.933C>T (p.His311=)
c.873C>T (p.His291=)
n.4448G>A
c.756C>T (p.His252=)
c.774C>T (p.His258=)
c.531C>T (p.His177=)
c.564C>T (p.His188=)
c.582C>T (p.His194=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127426138C>ACA348401252PROCc.589C>A (p.Leu197Met)
c.121-2219C>A
c.691C>A (p.Leu231Met)
n.175C>A
c.772C>A (p.Leu258Met)
c.754C>A (p.Leu252Met)
c.652C>A (p.Leu218Met)
c.832C>A (p.Leu278Met)
c.934C>A (p.Leu312Met)
c.874C>A (p.Leu292Met)
n.4447G>T
c.757C>A (p.Leu253Met)
c.775C>A (p.Leu259Met)
c.532C>A (p.Leu178Met)
c.565C>A (p.Leu189Met)
c.583C>A (p.Leu195Met)
2g.127426138C=CA1286883421PROCc.589C= (p.Leu197=)
c.121-2219C=
c.691C= (p.Leu231=)
n.175C=
c.772C= (p.Leu258=)
c.754C= (p.Leu252=)
c.652C= (p.Leu218=)
c.832C= (p.Leu278=)
c.934C= (p.Leu312=)
c.874C= (p.Leu292=)
n.4447G=
c.757C= (p.Leu253=)
c.775C= (p.Leu259=)
c.532C= (p.Leu178=)
c.565C= (p.Leu189=)
c.583C= (p.Leu195=)
2g.127426138C>GCA348401254PROCc.589C>G (p.Leu197Val)
c.121-2219C>G
c.691C>G (p.Leu231Val)
n.175C>G
c.772C>G (p.Leu258Val)
c.754C>G (p.Leu252Val)
c.652C>G (p.Leu218Val)
c.832C>G (p.Leu278Val)
c.934C>G (p.Leu312Val)
c.874C>G (p.Leu292Val)
n.4447G>C
c.757C>G (p.Leu253Val)
c.775C>G (p.Leu259Val)
c.532C>G (p.Leu178Val)
c.565C>G (p.Leu189Val)
c.583C>G (p.Leu195Val)
2g.127426138C>TCA1859393PROCc.589C>T (p.Leu197=)
c.121-2219C>T
c.691C>T (p.Leu231=)
n.175C>T
c.772C>T (p.Leu258=)
c.754C>T (p.Leu252=)
c.652C>T (p.Leu218=)
c.832C>T (p.Leu278=)
c.934C>T (p.Leu312=)
c.874C>T (p.Leu292=)
n.4447G>A
c.757C>T (p.Leu253=)
c.775C>T (p.Leu259=)
c.532C>T (p.Leu178=)
c.565C>T (p.Leu189=)
c.583C>T (p.Leu195=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127426139T>ACA348401261PROCc.590T>A (p.Leu197Gln)
c.121-2218T>A
c.692T>A (p.Leu231Gln)
n.176T>A
c.773T>A (p.Leu258Gln)
c.755T>A (p.Leu252Gln)
c.653T>A (p.Leu218Gln)
c.833T>A (p.Leu278Gln)
c.935T>A (p.Leu312Gln)
c.875T>A (p.Leu292Gln)
n.4446A>T
c.758T>A (p.Leu253Gln)
c.776T>A (p.Leu259Gln)
c.533T>A (p.Leu178Gln)
c.566T>A (p.Leu189Gln)
c.584T>A (p.Leu195Gln)
2g.127426139T>CCA1859394PROCc.590T>C (p.Leu197Pro)
c.121-2218T>C
c.692T>C (p.Leu231Pro)
n.176T>C
c.773T>C (p.Leu258Pro)
c.755T>C (p.Leu252Pro)
c.653T>C (p.Leu218Pro)
c.833T>C (p.Leu278Pro)
c.935T>C (p.Leu312Pro)
c.875T>C (p.Leu292Pro)
n.4446A>G
c.758T>C (p.Leu253Pro)
c.776T>C (p.Leu259Pro)
c.533T>C (p.Leu178Pro)
c.566T>C (p.Leu189Pro)
c.584T>C (p.Leu195Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127426139T>GCA348401275PROCc.590T>G (p.Leu197Arg)
c.121-2218T>G
c.692T>G (p.Leu231Arg)
n.176T>G
c.773T>G (p.Leu258Arg)
c.755T>G (p.Leu252Arg)
c.653T>G (p.Leu218Arg)
c.833T>G (p.Leu278Arg)
c.935T>G (p.Leu312Arg)
c.875T>G (p.Leu292Arg)
n.4446A>C
c.758T>G (p.Leu253Arg)
c.776T>G (p.Leu259Arg)
c.533T>G (p.Leu178Arg)
c.566T>G (p.Leu189Arg)
c.584T>G (p.Leu195Arg)
2g.127426139T=CA1286883422PROCc.590T= (p.Leu197=)
c.121-2218T=
c.692T= (p.Leu231=)
n.176T=
c.773T= (p.Leu258=)
c.755T= (p.Leu252=)
c.653T= (p.Leu218=)
c.833T= (p.Leu278=)
c.935T= (p.Leu312=)
c.875T= (p.Leu292=)
n.4446A=
c.758T= (p.Leu253=)
c.776T= (p.Leu259=)
c.533T= (p.Leu178=)
c.566T= (p.Leu189=)
c.584T= (p.Leu195=)
2g.127426140G>ACA428618245PROCc.591G>A (p.Leu197=)
c.121-2217G>A
c.693G>A (p.Leu231=)
n.177G>A
c.774G>A (p.Leu258=)
c.756G>A (p.Leu252=)
c.654G>A (p.Leu218=)
c.834G>A (p.Leu278=)
c.936G>A (p.Leu312=)
c.876G>A (p.Leu292=)
n.4445C>T
c.759G>A (p.Leu253=)
c.777G>A (p.Leu259=)
c.534G>A (p.Leu178=)
c.567G>A (p.Leu189=)
c.585G>A (p.Leu195=)
2g.127426140G>CCA428618246PROCc.591G>C (p.Leu197=)
c.121-2217G>C
c.693G>C (p.Leu231=)
n.177G>C
c.774G>C (p.Leu258=)
c.756G>C (p.Leu252=)
c.654G>C (p.Leu218=)
c.834G>C (p.Leu278=)
c.936G>C (p.Leu312=)
c.876G>C (p.Leu292=)
n.4445C>G
c.759G>C (p.Leu253=)
c.777G>C (p.Leu259=)
c.534G>C (p.Leu178=)
c.567G>C (p.Leu189=)
c.585G>C (p.Leu195=)
2g.127426140G>TCA428618247PROCc.591G>T (p.Leu197=)
c.121-2217G>T
c.693G>T (p.Leu231=)
n.177G>T
c.774G>T (p.Leu258=)
c.756G>T (p.Leu252=)
c.654G>T (p.Leu218=)
c.834G>T (p.Leu278=)
c.936G>T (p.Leu312=)
c.876G>T (p.Leu292=)
n.4445C>A
c.759G>T (p.Leu253=)
c.777G>T (p.Leu259=)
c.534G>T (p.Leu178=)
c.567G>T (p.Leu189=)
c.585G>T (p.Leu195=)
2g.127426141A=CA1286883423PROCc.592A= (p.Lys198=)
c.121-2216A=
c.694A= (p.Lys232=)
n.178A=
c.775A= (p.Lys259=)
c.757A= (p.Lys253=)
c.655A= (p.Lys219=)
c.835A= (p.Lys279=)
c.937A= (p.Lys313=)
c.877A= (p.Lys293=)
n.4444T=
c.760A= (p.Lys254=)
c.778A= (p.Lys260=)
c.535A= (p.Lys179=)
c.568A= (p.Lys190=)
c.586A= (p.Lys196=)
2g.127426141A>CCA1859395PROCc.592A>C (p.Lys198Gln)
c.121-2216A>C
c.694A>C (p.Lys232Gln)
n.178A>C
c.775A>C (p.Lys259Gln)
c.757A>C (p.Lys253Gln)
c.655A>C (p.Lys219Gln)
c.835A>C (p.Lys279Gln)
c.937A>C (p.Lys313Gln)
c.877A>C (p.Lys293Gln)
n.4444T>G
c.760A>C (p.Lys254Gln)
c.778A>C (p.Lys260Gln)
c.535A>C (p.Lys179Gln)
c.568A>C (p.Lys190Gln)
c.586A>C (p.Lys196Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426141A>GCA348401277PROCc.592A>G (p.Lys198Glu)
c.121-2216A>G
c.694A>G (p.Lys232Glu)
n.178A>G
c.775A>G (p.Lys259Glu)
c.757A>G (p.Lys253Glu)
c.655A>G (p.Lys219Glu)
c.835A>G (p.Lys279Glu)
c.937A>G (p.Lys313Glu)
c.877A>G (p.Lys293Glu)
n.4444T>C
c.760A>G (p.Lys254Glu)
c.778A>G (p.Lys260Glu)
c.535A>G (p.Lys179Glu)
c.568A>G (p.Lys190Glu)
c.586A>G (p.Lys196Glu)
2g.127426141A>TCA348401278PROCc.592A>T (p.Lys198Ter)
c.121-2216A>T
c.694A>T (p.Lys232Ter)
n.178A>T
c.775A>T (p.Lys259Ter)
c.757A>T (p.Lys253Ter)
c.655A>T (p.Lys219Ter)
c.835A>T (p.Lys279Ter)
c.937A>T (p.Lys313Ter)
c.877A>T (p.Lys293Ter)
n.4444T>A
c.760A>T (p.Lys254Ter)
c.778A>T (p.Lys260Ter)
c.535A>T (p.Lys179Ter)
c.568A>T (p.Lys190Ter)
c.586A>T (p.Lys196Ter)
2g.127426142A>CCA348401280PROCc.593A>C (p.Lys198Thr)
c.121-2215A>C
c.695A>C (p.Lys232Thr)
n.179A>C
c.776A>C (p.Lys259Thr)
c.758A>C (p.Lys253Thr)
c.656A>C (p.Lys219Thr)
c.836A>C (p.Lys279Thr)
c.938A>C (p.Lys313Thr)
c.878A>C (p.Lys293Thr)
n.4443T>G
c.761A>C (p.Lys254Thr)
c.779A>C (p.Lys260Thr)
c.536A>C (p.Lys179Thr)
c.569A>C (p.Lys190Thr)
c.587A>C (p.Lys196Thr)
2g.127426142A>GCA348401282PROCc.593A>G (p.Lys198Arg)
c.121-2215A>G
c.695A>G (p.Lys232Arg)
n.179A>G
c.776A>G (p.Lys259Arg)
c.758A>G (p.Lys253Arg)
c.656A>G (p.Lys219Arg)
c.836A>G (p.Lys279Arg)
c.938A>G (p.Lys313Arg)
c.878A>G (p.Lys293Arg)
n.4443T>C
c.761A>G (p.Lys254Arg)
c.779A>G (p.Lys260Arg)
c.536A>G (p.Lys179Arg)
c.569A>G (p.Lys190Arg)
c.587A>G (p.Lys196Arg)
2g.127426142A>TCA348401285PROCc.593A>T (p.Lys198Ile)
c.121-2215A>T
c.695A>T (p.Lys232Ile)
n.179A>T
c.776A>T (p.Lys259Ile)
c.758A>T (p.Lys253Ile)
c.656A>T (p.Lys219Ile)
c.836A>T (p.Lys279Ile)
c.938A>T (p.Lys313Ile)
c.878A>T (p.Lys293Ile)
n.4443T>A
c.761A>T (p.Lys254Ile)
c.779A>T (p.Lys260Ile)
c.536A>T (p.Lys179Ile)
c.569A>T (p.Lys190Ile)
c.587A>T (p.Lys196Ile)
2g.127426143A>CCA348401287PROCc.594A>C (p.Lys198Asn)
c.121-2214A>C
c.696A>C (p.Lys232Asn)
n.180A>C
c.777A>C (p.Lys259Asn)
c.759A>C (p.Lys253Asn)
c.657A>C (p.Lys219Asn)
c.837A>C (p.Lys279Asn)
c.939A>C (p.Lys313Asn)
c.879A>C (p.Lys293Asn)
n.4442T>G
c.762A>C (p.Lys254Asn)
c.780A>C (p.Lys260Asn)
c.537A>C (p.Lys179Asn)
c.570A>C (p.Lys190Asn)
c.588A>C (p.Lys196Asn)
2g.127426143A>GCA428618255PROCc.594A>G (p.Lys198=)
c.121-2214A>G
c.696A>G (p.Lys232=)
n.180A>G
c.777A>G (p.Lys259=)
c.759A>G (p.Lys253=)
c.657A>G (p.Lys219=)
c.837A>G (p.Lys279=)
c.939A>G (p.Lys313=)
c.879A>G (p.Lys293=)
n.4442T>C
c.762A>G (p.Lys254=)
c.780A>G (p.Lys260=)
c.537A>G (p.Lys179=)
c.570A>G (p.Lys190=)
c.588A>G (p.Lys196=)
2g.127426143A>TCA348401292PROCc.594A>T (p.Lys198Asn)
c.121-2214A>T
c.696A>T (p.Lys232Asn)
n.180A>T
c.777A>T (p.Lys259Asn)
c.759A>T (p.Lys253Asn)
c.657A>T (p.Lys219Asn)
c.837A>T (p.Lys279Asn)
c.939A>T (p.Lys313Asn)
c.879A>T (p.Lys293Asn)
n.4442T>A
c.762A>T (p.Lys254Asn)
c.780A>T (p.Lys260Asn)
c.537A>T (p.Lys179Asn)
c.570A>T (p.Lys190Asn)
c.588A>T (p.Lys196Asn)
2g.127426144C>ACA428618257PROCc.595C>A (p.Arg199=)
c.121-2213C>A
c.697C>A (p.Arg233=)
n.181C>A
c.778C>A (p.Arg260=)
c.760C>A (p.Arg254=)
c.658C>A (p.Arg220=)
c.838C>A (p.Arg280=)
c.940C>A (p.Arg314=)
c.880C>A (p.Arg294=)
n.4441G>T
c.763C>A (p.Arg255=)
c.781C>A (p.Arg261=)
c.538C>A (p.Arg180=)
c.571C>A (p.Arg191=)
c.589C>A (p.Arg197=)
2g.127426144C=CA1286883424PROCc.595C= (p.Arg199=)
c.121-2213C=
c.697C= (p.Arg233=)
n.181C=
c.778C= (p.Arg260=)
c.760C= (p.Arg254=)
c.658C= (p.Arg220=)
c.838C= (p.Arg280=)
c.940C= (p.Arg314=)
c.880C= (p.Arg294=)
n.4441G=
c.763C= (p.Arg255=)
c.781C= (p.Arg261=)
c.538C= (p.Arg180=)
c.571C= (p.Arg191=)
c.589C= (p.Arg197=)
2g.127426144C>GCA348401298PROCc.595C>G (p.Arg199Gly)
c.121-2213C>G
c.697C>G (p.Arg233Gly)
n.181C>G
c.778C>G (p.Arg260Gly)
c.760C>G (p.Arg254Gly)
c.658C>G (p.Arg220Gly)
c.838C>G (p.Arg280Gly)
c.940C>G (p.Arg314Gly)
c.880C>G (p.Arg294Gly)
n.4441G>C
c.763C>G (p.Arg255Gly)
c.781C>G (p.Arg261Gly)
c.538C>G (p.Arg180Gly)
c.571C>G (p.Arg191Gly)
c.589C>G (p.Arg197Gly)
2g.127426144C>TCA348401296PROCc.595C>T (p.Arg199Ter)
c.121-2213C>T
c.697C>T (p.Arg233Ter)
n.181C>T
c.778C>T (p.Arg260Ter)
c.760C>T (p.Arg254Ter)
c.658C>T (p.Arg220Ter)
c.838C>T (p.Arg280Ter)
c.940C>T (p.Arg314Ter)
c.880C>T (p.Arg294Ter)
n.4441G>A
c.763C>T (p.Arg255Ter)
c.781C>T (p.Arg261Ter)
c.538C>T (p.Arg180Ter)
c.571C>T (p.Arg191Ter)
c.589C>T (p.Arg197Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127426145G>ACA1859396PROCc.596G>A (p.Arg199Gln)
c.121-2212G>A
c.698G>A (p.Arg233Gln)
n.182G>A
c.779G>A (p.Arg260Gln)
c.761G>A (p.Arg254Gln)
c.659G>A (p.Arg220Gln)
c.839G>A (p.Arg280Gln)
c.941G>A (p.Arg314Gln)
c.881G>A (p.Arg294Gln)
n.4440C>T
c.764G>A (p.Arg255Gln)
c.782G>A (p.Arg261Gln)
c.539G>A (p.Arg180Gln)
c.572G>A (p.Arg191Gln)
c.590G>A (p.Arg197Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127426145G>CCA348401301PROCc.596G>C (p.Arg199Pro)
c.121-2212G>C
c.698G>C (p.Arg233Pro)
n.182G>C
c.779G>C (p.Arg260Pro)
c.761G>C (p.Arg254Pro)
c.659G>C (p.Arg220Pro)
c.839G>C (p.Arg280Pro)
c.941G>C (p.Arg314Pro)
c.881G>C (p.Arg294Pro)
n.4440C>G
c.764G>C (p.Arg255Pro)
c.782G>C (p.Arg261Pro)
c.539G>C (p.Arg180Pro)
c.572G>C (p.Arg191Pro)
c.590G>C (p.Arg197Pro)
 dbSNP gnomAD v4
2g.127426145G=CA1286883425PROCc.596G= (p.Arg199=)
c.121-2212G=
c.698G= (p.Arg233=)
n.182G=
c.779G= (p.Arg260=)
c.761G= (p.Arg254=)
c.659G= (p.Arg220=)
c.839G= (p.Arg280=)
c.941G= (p.Arg314=)
c.881G= (p.Arg294=)
n.4440C=
c.764G= (p.Arg255=)
c.782G= (p.Arg261=)
c.539G= (p.Arg180=)
c.572G= (p.Arg191=)
c.590G= (p.Arg197=)
2g.127426145G>TCA348401313PROCc.596G>T (p.Arg199Leu)
c.121-2212G>T
c.698G>T (p.Arg233Leu)
n.182G>T
c.779G>T (p.Arg260Leu)
c.761G>T (p.Arg254Leu)
c.659G>T (p.Arg220Leu)
c.839G>T (p.Arg280Leu)
c.941G>T (p.Arg314Leu)
c.881G>T (p.Arg294Leu)
n.4440C>A
c.764G>T (p.Arg255Leu)
c.782G>T (p.Arg261Leu)
c.539G>T (p.Arg180Leu)
c.572G>T (p.Arg191Leu)
c.590G>T (p.Arg197Leu)
2g.127426146A>CCA428618259PROCc.597A>C (p.Arg199=)
c.121-2211A>C
c.699A>C (p.Arg233=)
n.183A>C
c.780A>C (p.Arg260=)
c.762A>C (p.Arg254=)
c.660A>C (p.Arg220=)
c.840A>C (p.Arg280=)
c.942A>C (p.Arg314=)
c.882A>C (p.Arg294=)
n.4439T>G
c.765A>C (p.Arg255=)
c.783A>C (p.Arg261=)
c.540A>C (p.Arg180=)
c.573A>C (p.Arg191=)
c.591A>C (p.Arg197=)
2g.127426146A>GCA428618261PROCc.597A>G (p.Arg199=)
c.121-2211A>G
c.699A>G (p.Arg233=)
n.183A>G
c.780A>G (p.Arg260=)
c.762A>G (p.Arg254=)
c.660A>G (p.Arg220=)
c.840A>G (p.Arg280=)
c.942A>G (p.Arg314=)
c.882A>G (p.Arg294=)
n.4439T>C
c.765A>G (p.Arg255=)
c.783A>G (p.Arg261=)
c.540A>G (p.Arg180=)
c.573A>G (p.Arg191=)
c.591A>G (p.Arg197=)
2g.127426146A>TCA428618263PROCc.597A>T (p.Arg199=)
c.121-2211A>T
c.699A>T (p.Arg233=)
n.183A>T
c.780A>T (p.Arg260=)
c.762A>T (p.Arg254=)
c.660A>T (p.Arg220=)
c.840A>T (p.Arg280=)
c.942A>T (p.Arg314=)
c.882A>T (p.Arg294=)
n.4439T>A
c.765A>T (p.Arg255=)
c.783A>T (p.Arg261=)
c.540A>T (p.Arg180=)
c.573A>T (p.Arg191=)
c.591A>T (p.Arg197=)
2g.127426147G>ACA348401316PROCc.598G>A (p.Asp200Asn)
c.121-2210G>A
c.700G>A (p.Asp234Asn)
n.184G>A
c.781G>A (p.Asp261Asn)
c.763G>A (p.Asp255Asn)
c.661G>A (p.Asp221Asn)
c.841G>A (p.Asp281Asn)
c.943G>A (p.Asp315Asn)
c.883G>A (p.Asp295Asn)
n.4438C>T
c.766G>A (p.Asp256Asn)
c.784G>A (p.Asp262Asn)
c.541G>A (p.Asp181Asn)
c.574G>A (p.Asp192Asn)
c.592G>A (p.Asp198Asn)
2g.127426147G>CCA348401318PROCc.598G>C (p.Asp200His)
c.121-2210G>C
c.700G>C (p.Asp234His)
n.184G>C
c.781G>C (p.Asp261His)
c.763G>C (p.Asp255His)
c.661G>C (p.Asp221His)
c.841G>C (p.Asp281His)
c.943G>C (p.Asp315His)
c.883G>C (p.Asp295His)
n.4438C>G
c.766G>C (p.Asp256His)
c.784G>C (p.Asp262His)
c.541G>C (p.Asp181His)
c.574G>C (p.Asp192His)
c.592G>C (p.Asp198His)
2g.127426147G>TCA348401320PROCc.598G>T (p.Asp200Tyr)
c.121-2210G>T
c.700G>T (p.Asp234Tyr)
n.184G>T
c.781G>T (p.Asp261Tyr)
c.763G>T (p.Asp255Tyr)
c.661G>T (p.Asp221Tyr)
c.841G>T (p.Asp281Tyr)
c.943G>T (p.Asp315Tyr)
c.883G>T (p.Asp295Tyr)
n.4438C>A
c.766G>T (p.Asp256Tyr)
c.784G>T (p.Asp262Tyr)
c.541G>T (p.Asp181Tyr)
c.574G>T (p.Asp192Tyr)
c.592G>T (p.Asp198Tyr)
2g.127426148A>CCA348401329PROCc.599A>C (p.Asp200Ala)
c.121-2209A>C
c.701A>C (p.Asp234Ala)
n.185A>C
c.782A>C (p.Asp261Ala)
c.764A>C (p.Asp255Ala)
c.662A>C (p.Asp221Ala)
c.842A>C (p.Asp281Ala)
c.944A>C (p.Asp315Ala)
c.884A>C (p.Asp295Ala)
n.4437T>G
c.767A>C (p.Asp256Ala)
c.785A>C (p.Asp262Ala)
c.542A>C (p.Asp181Ala)
c.575A>C (p.Asp192Ala)
c.593A>C (p.Asp198Ala)
2g.127426148A>GCA348401324PROCc.599A>G (p.Asp200Gly)
c.121-2209A>G
c.701A>G (p.Asp234Gly)
n.185A>G
c.782A>G (p.Asp261Gly)
c.764A>G (p.Asp255Gly)
c.662A>G (p.Asp221Gly)
c.842A>G (p.Asp281Gly)
c.944A>G (p.Asp315Gly)
c.884A>G (p.Asp295Gly)
n.4437T>C
c.767A>G (p.Asp256Gly)
c.785A>G (p.Asp262Gly)
c.542A>G (p.Asp181Gly)
c.575A>G (p.Asp192Gly)
c.593A>G (p.Asp198Gly)
2g.127426148A>TCA348401326PROCc.599A>T (p.Asp200Val)
c.121-2209A>T
c.701A>T (p.Asp234Val)
n.185A>T
c.782A>T (p.Asp261Val)
c.764A>T (p.Asp255Val)
c.662A>T (p.Asp221Val)
c.842A>T (p.Asp281Val)
c.944A>T (p.Asp315Val)
c.884A>T (p.Asp295Val)
n.4437T>A
c.767A>T (p.Asp256Val)
c.785A>T (p.Asp262Val)
c.542A>T (p.Asp181Val)
c.575A>T (p.Asp192Val)
c.593A>T (p.Asp198Val)
2g.127426149C>ACA348401330PROCc.600C>A (p.Asp200Glu)
c.121-2208C>A
c.702C>A (p.Asp234Glu)
n.186C>A
c.783C>A (p.Asp261Glu)
c.765C>A (p.Asp255Glu)
c.663C>A (p.Asp221Glu)
c.843C>A (p.Asp281Glu)
c.945C>A (p.Asp315Glu)
c.885C>A (p.Asp295Glu)
n.4436G>T
c.768C>A (p.Asp256Glu)
c.786C>A (p.Asp262Glu)
c.543C>A (p.Asp181Glu)
c.576C>A (p.Asp192Glu)
c.594C>A (p.Asp198Glu)
 gnomAD v4
2g.127426149C>GCA348401331PROCc.600C>G (p.Asp200Glu)
c.121-2208C>G
c.702C>G (p.Asp234Glu)
n.186C>G
c.783C>G (p.Asp261Glu)
c.765C>G (p.Asp255Glu)
c.663C>G (p.Asp221Glu)
c.843C>G (p.Asp281Glu)
c.945C>G (p.Asp315Glu)
c.885C>G (p.Asp295Glu)
n.4436G>C
c.768C>G (p.Asp256Glu)
c.786C>G (p.Asp262Glu)
c.543C>G (p.Asp181Glu)
c.576C>G (p.Asp192Glu)
c.594C>G (p.Asp198Glu)
2g.127426149C>TCA428618265PROCc.600C>T (p.Asp200=)
c.121-2208C>T
c.702C>T (p.Asp234=)
n.186C>T
c.783C>T (p.Asp261=)
c.765C>T (p.Asp255=)
c.663C>T (p.Asp221=)
c.843C>T (p.Asp281=)
c.945C>T (p.Asp315=)
c.885C>T (p.Asp295=)
n.4436G>A
c.768C>T (p.Asp256=)
c.786C>T (p.Asp262=)
c.543C>T (p.Asp181=)
c.576C>T (p.Asp192=)
c.594C>T (p.Asp198=)
2g.127426150A>CCA348401333PROCc.601A>C (p.Thr201Pro)
c.121-2207A>C
c.703A>C (p.Thr235Pro)
n.187A>C
c.784A>C (p.Thr262Pro)
c.766A>C (p.Thr256Pro)
c.664A>C (p.Thr222Pro)
c.844A>C (p.Thr282Pro)
c.946A>C (p.Thr316Pro)
c.886A>C (p.Thr296Pro)
n.4435T>G
c.769A>C (p.Thr257Pro)
c.787A>C (p.Thr263Pro)
c.544A>C (p.Thr182Pro)
c.577A>C (p.Thr193Pro)
c.595A>C (p.Thr199Pro)
2g.127426150A>GCA348401335PROCc.601A>G (p.Thr201Ala)
c.121-2207A>G
c.703A>G (p.Thr235Ala)
n.187A>G
c.784A>G (p.Thr262Ala)
c.766A>G (p.Thr256Ala)
c.664A>G (p.Thr222Ala)
c.844A>G (p.Thr282Ala)
c.946A>G (p.Thr316Ala)
c.886A>G (p.Thr296Ala)
n.4435T>C
c.769A>G (p.Thr257Ala)
c.787A>G (p.Thr263Ala)
c.544A>G (p.Thr182Ala)
c.577A>G (p.Thr193Ala)
c.595A>G (p.Thr199Ala)
2g.127426150A>TCA348401337PROCc.601A>T (p.Thr201Ser)
c.121-2207A>T
c.703A>T (p.Thr235Ser)
n.187A>T
c.784A>T (p.Thr262Ser)
c.766A>T (p.Thr256Ser)
c.664A>T (p.Thr222Ser)
c.844A>T (p.Thr282Ser)
c.946A>T (p.Thr316Ser)
c.886A>T (p.Thr296Ser)
n.4435T>A
c.769A>T (p.Thr257Ser)
c.787A>T (p.Thr263Ser)
c.544A>T (p.Thr182Ser)
c.577A>T (p.Thr193Ser)
c.595A>T (p.Thr199Ser)

Number of alleles fetched