Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.26723778G>ACA592780183PDSS1c.610-28G>A (n.610-28G>A)
n.444-28G>A
c.18-28G>A
c.100-28G>A (n.100-28G>A)
c.241-28G>A (n.241-28G>A)
n.898-28G>A
c.289-28G>A (n.289-28G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.26723778G=CA1898160241PDSS1c.610-28G= (n.610-28G=)
n.444-28G=
c.18-28G=
c.100-28G= (n.100-28G=)
c.241-28G= (n.241-28G=)
n.898-28G=
c.289-28G= (n.289-28G=)
10g.26723778G>TCA2608597129PDSS1c.610-28G>T (n.610-28G>T)
n.444-28G>T
c.18-28G>T
c.100-28G>T (n.100-28G>T)
c.241-28G>T (n.241-28G>T)
n.898-28G>T
c.289-28G>T (n.289-28G>T)
 gnomAD v4
10g.26723779_26723781delinsTTCCA1898160246PDSS1c.610-27_610-25delinsTTC (n.610-27_610-25delinsTTC)
n.444-27_444-25delinsTTC
c.18-27_18-25delinsTTC
c.100-27_100-25delinsTTC (n.100-27_100-25delinsTTC)
c.241-27_241-25delinsTTC (n.241-27_241-25delinsTTC)
n.898-27_898-25delinsTTC
c.289-27_289-25delinsTTC (n.289-27_289-25delinsTTC)
10g.26723781_26723782delCA5446979PDSS1c.610-25_610-24del (n.610-25_610-24del)
n.444-25_444-24del
c.18-25_18-24del
c.100-25_100-24del (n.100-25_100-24del)
c.241-25_241-24del (n.241-25_241-24del)
n.898-25_898-24del
c.289-25_289-24del (n.289-25_289-24del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.26723781C>ACA2608597130PDSS1c.610-25C>A (n.610-25C>A)
n.444-25C>A
c.18-25C>A
c.100-25C>A (n.100-25C>A)
c.241-25C>A (n.241-25C>A)
n.898-25C>A
c.289-25C>A (n.289-25C>A)
 gnomAD v4
10g.26723781C>GCA2608597131PDSS1c.610-25C>G (n.610-25C>G)
n.444-25C>G
c.18-25C>G
c.100-25C>G (n.100-25C>G)
c.241-25C>G (n.241-25C>G)
n.898-25C>G
c.289-25C>G (n.289-25C>G)
 gnomAD v4
10g.26723782_26723783delinsTGCA1898160248PDSS1c.610-24_610-23delinsTG (n.610-24_610-23delinsTG)
n.444-24_444-23delinsTG
c.18-24_18-23delinsTG
c.100-24_100-23delinsTG (n.100-24_100-23delinsTG)
c.241-24_241-23delinsTG (n.241-24_241-23delinsTG)
n.898-24_898-23delinsTG
c.289-24_289-23delinsTG (n.289-24_289-23delinsTG)
10g.26723783delCA204403752PDSS1c.610-23del (n.610-23del)
n.444-23del
c.18-23del
c.100-23del (n.100-23del)
c.241-23del (n.241-23del)
n.898-23del
c.289-23del (n.289-23del)
 dbSNP
10g.26723783G>ACA5446980PDSS1c.610-23G>A (n.610-23G>A)
n.444-23G>A
c.18-23G>A
c.100-23G>A (n.100-23G>A)
c.241-23G>A (n.241-23G>A)
n.898-23G>A
c.289-23G>A (n.289-23G>A)
 dbSNP ExAC gnomAD v2
10g.26723783G>CCA2608597132PDSS1c.610-23G>C (n.610-23G>C)
n.444-23G>C
c.18-23G>C
c.100-23G>C (n.100-23G>C)
c.241-23G>C (n.241-23G>C)
n.898-23G>C
c.289-23G>C (n.289-23G>C)
 gnomAD v4
10g.26723783G=CA1898160253PDSS1c.610-23G= (n.610-23G=)
n.444-23G=
c.18-23G=
c.100-23G= (n.100-23G=)
c.241-23G= (n.241-23G=)
n.898-23G=
c.289-23G= (n.289-23G=)
10g.26723783_26723784delinsGTCA1898160251PDSS1c.610-23_610-22delinsGT (n.610-23_610-22delinsGT)
n.444-23_444-22delinsGT
c.18-23_18-22delinsGT
c.100-23_100-22delinsGT (n.100-23_100-22delinsGT)
c.241-23_241-22delinsGT (n.241-23_241-22delinsGT)
n.898-23_898-22delinsGT
c.289-23_289-22delinsGT (n.289-23_289-22delinsGT)
10g.26723784T>GCA2574516121PDSS1c.610-22T>G (n.610-22T>G)
n.444-22T>G
c.18-22T>G
c.100-22T>G (n.100-22T>G)
c.241-22T>G (n.241-22T>G)
n.898-22T>G
c.289-22T>G (n.289-22T>G)
 gnomAD v4
10g.26723787delCA926122115PDSS1c.610-19del (n.610-19del)
n.444-19del
c.18-19del
c.100-19del (n.100-19del)
c.241-19del (n.241-19del)
n.898-19del
c.289-19del (n.289-19del)
 dbSNP gnomAD v3 gnomAD v4
10g.26723785T>ACA2574516122PDSS1c.610-21T>A (n.610-21T>A)
n.444-21T>A
c.18-21T>A
c.100-21T>A (n.100-21T>A)
c.241-21T>A (n.241-21T>A)
n.898-21T>A
c.289-21T>A (n.289-21T>A)
10g.26723786T>ACA2608597133PDSS1c.610-20T>A (n.610-20T>A)
n.444-20T>A
c.18-20T>A
c.100-20T>A (n.100-20T>A)
c.241-20T>A (n.241-20T>A)
n.898-20T>A
c.289-20T>A (n.289-20T>A)
 gnomAD v4
10g.26723786T>CCA592780184PDSS1c.610-20T>C (n.610-20T>C)
n.444-20T>C
c.18-20T>C
c.100-20T>C (n.100-20T>C)
c.241-20T>C (n.241-20T>C)
n.898-20T>C
c.289-20T>C (n.289-20T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.26723786T=CA1898160258PDSS1c.610-20T= (n.610-20T=)
n.444-20T=
c.18-20T=
c.100-20T= (n.100-20T=)
c.241-20T= (n.241-20T=)
n.898-20T=
c.289-20T= (n.289-20T=)
10g.26723787T>CCA2608597134PDSS1c.610-19T>C (n.610-19T>C)
n.444-19T>C
c.18-19T>C
c.100-19T>C (n.100-19T>C)
c.241-19T>C (n.241-19T>C)
n.898-19T>C
c.289-19T>C (n.289-19T>C)
 gnomAD v4
10g.26723787T>GCA1898160263PDSS1c.610-19T>G (n.610-19T>G)
n.444-19T>G
c.18-19T>G
c.100-19T>G (n.100-19T>G)
c.241-19T>G (n.241-19T>G)
n.898-19T>G
c.289-19T>G (n.289-19T>G)
 dbSNP gnomAD v4
10g.26723787T=CA1898160262PDSS1c.610-19T= (n.610-19T=)
n.444-19T=
c.18-19T=
c.100-19T= (n.100-19T=)
c.241-19T= (n.241-19T=)
n.898-19T=
c.289-19T= (n.289-19T=)
10g.26723787_26723788delinsTCCA1898160264PDSS1c.610-19_610-18delinsTC (n.610-19_610-18delinsTC)
n.444-19_444-18delinsTC
c.18-19_18-18delinsTC
c.100-19_100-18delinsTC (n.100-19_100-18delinsTC)
c.241-19_241-18delinsTC (n.241-19_241-18delinsTC)
n.898-19_898-18delinsTC
c.289-19_289-18delinsTC (n.289-19_289-18delinsTC)
10g.26723788C>ACA2574516123PDSS1c.610-18C>A (n.610-18C>A)
n.444-18C>A
c.18-18C>A
c.100-18C>A (n.100-18C>A)
c.241-18C>A (n.241-18C>A)
n.898-18C>A
c.289-18C>A (n.289-18C>A)
 gnomAD v4
10g.26723788C=CA1898160267PDSS1c.610-18C= (n.610-18C=)
n.444-18C=
c.18-18C=
c.100-18C= (n.100-18C=)
c.241-18C= (n.241-18C=)
n.898-18C=
c.289-18C= (n.289-18C=)
10g.26723788C>TCA926122116PDSS1c.610-18C>T (n.610-18C>T)
n.444-18C>T
c.18-18C>T
c.100-18C>T (n.100-18C>T)
c.241-18C>T (n.241-18C>T)
n.898-18C>T
c.289-18C>T (n.289-18C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.26723792delCA1898160266PDSS1c.610-14del (n.610-14del)
n.444-14del
c.18-14del
c.100-14del (n.100-14del)
c.241-14del (n.241-14del)
n.898-14del
c.289-14del (n.289-14del)
 dbSNP
10g.26723789C>ACA2608597135PDSS1c.610-17C>A (n.610-17C>A)
n.444-17C>A
c.18-17C>A
c.100-17C>A (n.100-17C>A)
c.241-17C>A (n.241-17C>A)
n.898-17C>A
c.289-17C>A (n.289-17C>A)
 gnomAD v4
10g.26723789C=CA1898160270PDSS1c.610-17C= (n.610-17C=)
n.444-17C=
c.18-17C=
c.100-17C= (n.100-17C=)
c.241-17C= (n.241-17C=)
n.898-17C=
c.289-17C= (n.289-17C=)
10g.26723789C>TCA5446981PDSS1c.610-17C>T (n.610-17C>T)
n.444-17C>T
c.18-17C>T
c.100-17C>T (n.100-17C>T)
c.241-17C>T (n.241-17C>T)
n.898-17C>T
c.289-17C>T (n.289-17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.26723790C>ACA2608597136PDSS1c.610-16C>A (n.610-16C>A)
n.444-16C>A
c.18-16C>A
c.100-16C>A (n.100-16C>A)
c.241-16C>A (n.241-16C>A)
n.898-16C>A
c.289-16C>A (n.289-16C>A)
 gnomAD v4
10g.26723790C=CA1898160283PDSS1c.610-16C= (n.610-16C=)
n.444-16C=
c.18-16C=
c.100-16C= (n.100-16C=)
c.241-16C= (n.241-16C=)
n.898-16C=
c.289-16C= (n.289-16C=)
10g.26723790C>TCA592780185PDSS1c.610-16C>T (n.610-16C>T)
n.444-16C>T
c.18-16C>T
c.100-16C>T (n.100-16C>T)
c.241-16C>T (n.241-16C>T)
n.898-16C>T
c.289-16C>T (n.289-16C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.26723791C>ACA2608597137PDSS1c.610-15C>A (n.610-15C>A)
n.444-15C>A
c.18-15C>A
c.100-15C>A (n.100-15C>A)
c.241-15C>A (n.241-15C>A)
n.898-15C>A
c.289-15C>A (n.289-15C>A)
 gnomAD v4
10g.26723791C=CA1898160287PDSS1c.610-15C= (n.610-15C=)
n.444-15C=
c.18-15C=
c.100-15C= (n.100-15C=)
c.241-15C= (n.241-15C=)
n.898-15C=
c.289-15C= (n.289-15C=)
10g.26723791C>TCA1898160288PDSS1c.610-15C>T (n.610-15C>T)
n.444-15C>T
c.18-15C>T
c.100-15C>T (n.100-15C>T)
c.241-15C>T (n.241-15C>T)
n.898-15C>T
c.289-15C>T (n.289-15C>T)
 dbSNP gnomAD v4
10g.26723791_26723793delinsCCTCA1898160285PDSS1c.610-15_610-13delinsCCT (n.610-15_610-13delinsCCT)
n.444-15_444-13delinsCCT
c.18-15_18-13delinsCCT
c.100-15_100-13delinsCCT (n.100-15_100-13delinsCCT)
c.241-15_241-13delinsCCT (n.241-15_241-13delinsCCT)
n.898-15_898-13delinsCCT
c.289-15_289-13delinsCCT (n.289-15_289-13delinsCCT)
10g.26723792C>ACA2608597139PDSS1c.610-14C>A (n.610-14C>A)
n.444-14C>A
c.18-14C>A
c.100-14C>A (n.100-14C>A)
c.241-14C>A (n.241-14C>A)
n.898-14C>A
c.289-14C>A (n.289-14C>A)
 gnomAD v4
10g.26723792C=CA1898160295PDSS1c.610-14C= (n.610-14C=)
n.444-14C=
c.18-14C=
c.100-14C= (n.100-14C=)
c.241-14C= (n.241-14C=)
n.898-14C=
c.289-14C= (n.289-14C=)
10g.26723792C>GCA2608597138PDSS1c.610-14C>G (n.610-14C>G)
n.444-14C>G
c.18-14C>G
c.100-14C>G (n.100-14C>G)
c.241-14C>G (n.241-14C>G)
n.898-14C>G
c.289-14C>G (n.289-14C>G)
 gnomAD v4
10g.26723792C>TCA1898160298PDSS1c.610-14C>T (n.610-14C>T)
n.444-14C>T
c.18-14C>T
c.100-14C>T (n.100-14C>T)
c.241-14C>T (n.241-14C>T)
n.898-14C>T
c.289-14C>T (n.289-14C>T)
 dbSNP
10g.26723792_26723793delCA5446982PDSS1c.610-14_610-13del (n.610-14_610-13del)
n.444-14_444-13del
c.18-14_18-13del
c.100-14_100-13del (n.100-14_100-13del)
c.241-14_241-13del (n.241-14_241-13del)
n.898-14_898-13del
c.289-14_289-13del (n.289-14_289-13del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.26723793T>CCA926122123PDSS1c.610-13T>C (n.610-13T>C)
n.444-13T>C
c.18-13T>C
c.100-13T>C (n.100-13T>C)
c.241-13T>C (n.241-13T>C)
n.898-13T>C
c.289-13T>C (n.289-13T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.26723793T=CA1898160302PDSS1c.610-13T= (n.610-13T=)
n.444-13T=
c.18-13T=
c.100-13T= (n.100-13T=)
c.241-13T= (n.241-13T=)
n.898-13T=
c.289-13T= (n.289-13T=)
10g.26723795T>ACA2608597140PDSS1c.610-11T>A (n.610-11T>A)
n.444-11T>A
c.18-11T>A
c.100-11T>A (n.100-11T>A)
c.241-11T>A (n.241-11T>A)
n.898-11T>A
c.289-11T>A (n.289-11T>A)
 gnomAD v4
10g.26723795T>CCA2608597141PDSS1c.610-11T>C (n.610-11T>C)
n.444-11T>C
c.18-11T>C
c.100-11T>C (n.100-11T>C)
c.241-11T>C (n.241-11T>C)
n.898-11T>C
c.289-11T>C (n.289-11T>C)
 gnomAD v4
10g.26723796C>ACA592780187PDSS1c.610-10C>A (n.610-10C>A)
n.444-10C>A
c.18-10C>A
c.100-10C>A (n.100-10C>A)
c.241-10C>A (n.241-10C>A)
n.898-10C>A
c.289-10C>A (n.289-10C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.26723796C=CA1898160306PDSS1c.610-10C= (n.610-10C=)
n.444-10C=
c.18-10C=
c.100-10C= (n.100-10C=)
c.241-10C= (n.241-10C=)
n.898-10C=
c.289-10C= (n.289-10C=)
10g.26723796_26723798delinsCTTCA1898160305PDSS1c.610-10_610-8delinsCTT (n.610-10_610-8delinsCTT)
n.444-10_444-8delinsCTT
c.18-10_18-8delinsCTT
c.100-10_100-8delinsCTT (n.100-10_100-8delinsCTT)
c.241-10_241-8delinsCTT (n.241-10_241-8delinsCTT)
n.898-10_898-8delinsCTT
c.289-10_289-8delinsCTT (n.289-10_289-8delinsCTT)
10g.26723797T>GCA2608597142PDSS1c.610-9T>G (n.610-9T>G)
n.444-9T>G
c.18-9T>G
c.100-9T>G (n.100-9T>G)
c.241-9T>G (n.241-9T>G)
n.898-9T>G
c.289-9T>G (n.289-9T>G)
 gnomAD v4
10g.26723800_26723801delCA5446983PDSS1c.610-6_610-5del (n.610-6_610-5del)
n.444-6_444-5del
c.18-6_18-5del
c.100-6_100-5del (n.100-6_100-5del)
c.241-6_241-5del (n.241-6_241-5del)
n.898-6_898-5del
c.289-6_289-5del (n.289-6_289-5del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.26723799T>CCA2608597143PDSS1c.610-7T>C (n.610-7T>C)
n.444-7T>C
c.18-7T>C
c.100-7T>C (n.100-7T>C)
c.241-7T>C (n.241-7T>C)
n.898-7T>C
c.289-7T>C (n.289-7T>C)
 gnomAD v4
10g.26723800T>CCA2608597144PDSS1c.610-6T>C (n.610-6T>C)
n.444-6T>C
c.18-6T>C
c.100-6T>C (n.100-6T>C)
c.241-6T>C (n.241-6T>C)
n.898-6T>C
c.289-6T>C (n.289-6T>C)
 gnomAD v4
10g.26723801T>CCA2787041754PDSS1c.610-5T>C (n.610-5T>C)
n.444-5T>C
c.18-5T>C
c.100-5T>C (n.100-5T>C)
c.241-5T>C (n.241-5T>C)
n.898-5T>C
c.289-5T>C (n.289-5T>C)
10g.26723802delCA2608597145PDSS1c.610-4del (n.610-4del)
n.444-4del
c.18-4del
c.100-4del (n.100-4del)
c.241-4del (n.241-4del)
n.898-4del
c.289-4del (n.289-4del)
 gnomAD v4
10g.26723802C>ACA2608597146PDSS1c.610-4C>A (n.610-4C>A)
n.444-4C>A
c.18-4C>A
c.100-4C>A (n.100-4C>A)
c.241-4C>A (n.241-4C>A)
n.898-4C>A
c.289-4C>A (n.289-4C>A)
 gnomAD v4
10g.26723803T>ACA2608597147PDSS1c.610-3T>A (n.610-3T>A)
n.444-3T>A
c.18-3T>A
c.100-3T>A (n.100-3T>A)
c.241-3T>A (n.241-3T>A)
n.898-3T>A
c.289-3T>A (n.289-3T>A)
 gnomAD v4
10g.26723803T>CCA2608597148PDSS1c.610-3T>C (n.610-3T>C)
n.444-3T>C
c.18-3T>C
c.100-3T>C (n.100-3T>C)
c.241-3T>C (n.241-3T>C)
n.898-3T>C
c.289-3T>C (n.289-3T>C)
 gnomAD v4
10g.26723804delCA2608597149PDSS1c.610-2del (n.610-2del)
n.444-2del
c.18-2del
c.100-2del (n.100-2del)
c.241-2del (n.241-2del)
n.898-2del
c.289-2del (n.289-2del)
 gnomAD v4
10g.26723804A=CA1898160313PDSS1c.610-2A= (n.610-2A=)
n.444-2A=
c.18-2A=
c.100-2A= (n.100-2A=)
c.241-2A= (n.241-2A=)
n.898-2A=
c.289-2A= (n.289-2A=)
10g.26723804A>CCA376348063PDSS1c.610-2A>C (n.610-2A>C)
n.444-2A>C
c.18-2A>C
c.100-2A>C (n.100-2A>C)
c.241-2A>C (n.241-2A>C)
n.898-2A>C
c.289-2A>C (n.289-2A>C)
10g.26723804A>GCA5446984PDSS1c.610-2A>G (n.610-2A>G)
n.444-2A>G
c.18-2A>G
c.100-2A>G (n.100-2A>G)
c.241-2A>G (n.241-2A>G)
n.898-2A>G
c.289-2A>G (n.289-2A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.26723804A>TCA376348062PDSS1c.610-2A>T (n.610-2A>T)
n.444-2A>T
c.18-2A>T
c.100-2A>T (n.100-2A>T)
c.241-2A>T (n.241-2A>T)
n.898-2A>T
c.289-2A>T (n.289-2A>T)
10g.26723805G>ACA376348066PDSS1c.610-1G>A (n.610-1G>A)
n.444-1G>A
c.18-1G>A
c.100-1G>A (n.100-1G>A)
c.241-1G>A (n.241-1G>A)
n.898-1G>A
c.289-1G>A (n.289-1G>A)
10g.26723805G>CCA376348064PDSS1c.610-1G>C (n.610-1G>C)
n.444-1G>C
c.18-1G>C
c.100-1G>C (n.100-1G>C)
c.241-1G>C (n.241-1G>C)
n.898-1G>C
c.289-1G>C (n.289-1G>C)
10g.26723805G>TCA376348065PDSS1c.610-1G>T (n.610-1G>T)
n.444-1G>T
c.18-1G>T
c.100-1G>T (n.100-1G>T)
c.241-1G>T (n.241-1G>T)
n.898-1G>T
c.289-1G>T (n.289-1G>T)
10g.26723806G>ACA376348067PDSS1c.610G>A (p.Ala204Thr)
n.444G>A
c.18G>A
c.100G>A (p.Ala34Thr)
c.241G>A (p.Ala81Thr)
n.898G>A
c.289G>A (p.Ala97Thr)
 gnomAD v4
10g.26723806G>CCA376348068PDSS1c.610G>C (p.Ala204Pro)
n.444G>C
c.18G>C
c.100G>C (p.Ala34Pro)
c.241G>C (p.Ala81Pro)
n.898G>C
c.289G>C (p.Ala97Pro)
10g.26723806G>TCA376348069PDSS1c.610G>T (p.Ala204Ser)
n.444G>T
c.18G>T
c.100G>T (p.Ala34Ser)
c.241G>T (p.Ala81Ser)
n.898G>T
c.289G>T (p.Ala97Ser)
10g.26723807C>ACA376348070PDSS1c.611C>A (p.Ala204Asp)
n.445C>A
c.19C>A
c.101C>A (p.Ala34Asp)
c.242C>A (p.Ala81Asp)
n.899C>A
c.290C>A (p.Ala97Asp)
 gnomAD v4
10g.26723807C>GCA376348071PDSS1c.611C>G (p.Ala204Gly)
n.445C>G
c.19C>G
c.101C>G (p.Ala34Gly)
c.242C>G (p.Ala81Gly)
n.899C>G
c.290C>G (p.Ala97Gly)
10g.26723807C>TCA376348072PDSS1c.611C>T (p.Ala204Val)
n.445C>T
c.19C>T
c.101C>T (p.Ala34Val)
c.242C>T (p.Ala81Val)
n.899C>T
c.290C>T (p.Ala97Val)
10g.26723808T>ACA468482658PDSS1c.612T>A (p.Ala204=)
n.446T>A
c.20T>A
c.102T>A (p.Ala34=)
c.243T>A (p.Ala81=)
n.900T>A
c.291T>A (p.Ala97=)
10g.26723808T>CCA468482659PDSS1c.612T>C (p.Ala204=)
n.446T>C
c.20T>C
c.102T>C (p.Ala34=)
c.243T>C (p.Ala81=)
n.900T>C
c.291T>C (p.Ala97=)
 gnomAD v4
10g.26723808T>GCA5446985PDSS1c.612T>G (p.Ala204=)
n.446T>G
c.20T>G
c.102T>G (p.Ala34=)
c.243T>G (p.Ala81=)
n.900T>G
c.291T>G (p.Ala97=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.26723808T=CA1898160325PDSS1c.612T= (p.Ala204=)
n.446T=
c.20T=
c.102T= (p.Ala34=)
c.243T= (p.Ala81=)
n.900T=
c.291T= (p.Ala97=)
10g.26723809G>ACA376348073PDSS1c.613G>A (p.Val205Ile)
n.447G>A
c.21G>A
c.103G>A (p.Val35Ile)
c.244G>A (p.Val82Ile)
n.901G>A
c.292G>A (p.Val98Ile)
 gnomAD v4
10g.26723809G>CCA376348074PDSS1c.613G>C (p.Val205Leu)
n.447G>C
c.21G>C
c.103G>C (p.Val35Leu)
c.244G>C (p.Val82Leu)
n.901G>C
c.292G>C (p.Val98Leu)
 gnomAD v4
10g.26723809G>TCA376348075PDSS1c.613G>T (p.Val205Phe)
n.447G>T
c.21G>T
c.103G>T (p.Val35Phe)
c.244G>T (p.Val82Phe)
n.901G>T
c.292G>T (p.Val98Phe)
10g.26723810T>ACA376348077PDSS1c.614T>A (p.Val205Asp)
n.448T>A
c.22T>A
c.104T>A (p.Val35Asp)
c.245T>A (p.Val82Asp)
n.902T>A
c.293T>A (p.Val98Asp)
10g.26723810T>CCA5446986PDSS1c.614T>C (p.Val205Ala)
n.448T>C
c.22T>C
c.104T>C (p.Val35Ala)
c.245T>C (p.Val82Ala)
n.902T>C
c.293T>C (p.Val98Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.26723810T>GCA376348076PDSS1c.614T>G (p.Val205Gly)
n.448T>G
c.22T>G
c.104T>G (p.Val35Gly)
c.245T>G (p.Val82Gly)
n.902T>G
c.293T>G (p.Val98Gly)
10g.26723810T=CA1898160332PDSS1c.614T= (p.Val205=)
n.448T=
c.22T=
c.104T= (p.Val35=)
c.245T= (p.Val82=)
n.902T=
c.293T= (p.Val98=)
10g.26723811T>ACA468482665PDSS1c.615T>A (p.Val205=)
n.449T>A
c.23T>A
c.105T>A (p.Val35=)
c.246T>A (p.Val82=)
n.903T>A
c.294T>A (p.Val98=)
10g.26723811T>CCA468482667PDSS1c.615T>C (p.Val205=)
n.449T>C
c.23T>C
c.105T>C (p.Val35=)
c.246T>C (p.Val82=)
n.903T>C
c.294T>C (p.Val98=)
10g.26723811T>GCA468482669PDSS1c.615T>G (p.Val205=)
n.449T>G
c.23T>G
c.105T>G (p.Val35=)
c.246T>G (p.Val82=)
n.903T>G
c.294T>G (p.Val98=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.26723811T=CA1898160337PDSS1c.615T= (p.Val205=)
n.449T=
c.23T=
c.105T= (p.Val35=)
c.246T= (p.Val82=)
n.903T=
c.294T= (p.Val98=)
10g.26723812C>ACA376348078PDSS1c.616C>A (p.Leu206Ile)
n.450C>A
c.24C>A
c.106C>A (p.Leu36Ile)
c.247C>A (p.Leu83Ile)
n.904C>A
c.295C>A (p.Leu99Ile)
10g.26723812C>GCA376348079PDSS1c.616C>G (p.Leu206Val)
n.450C>G
c.24C>G
c.106C>G (p.Leu36Val)
c.247C>G (p.Leu83Val)
n.904C>G
c.295C>G (p.Leu99Val)
 gnomAD v4
10g.26723812C>TCA376348080PDSS1c.616C>T (p.Leu206Phe)
n.450C>T
c.24C>T
c.106C>T (p.Leu36Phe)
c.247C>T (p.Leu83Phe)
n.904C>T
c.295C>T (p.Leu99Phe)
10g.26723813T>ACA376348081PDSS1c.617T>A (p.Leu206His)
n.451T>A
c.25T>A
c.107T>A (p.Leu36His)
c.248T>A (p.Leu83His)
n.905T>A
c.296T>A (p.Leu99His)
10g.26723813T>CCA376348082PDSS1c.617T>C (p.Leu206Pro)
n.451T>C
c.25T>C
c.107T>C (p.Leu36Pro)
c.248T>C (p.Leu83Pro)
n.905T>C
c.296T>C (p.Leu99Pro)
10g.26723813T>GCA376348083PDSS1c.617T>G (p.Leu206Arg)
n.451T>G
c.25T>G
c.107T>G (p.Leu36Arg)
c.248T>G (p.Leu83Arg)
n.905T>G
c.296T>G (p.Leu99Arg)
10g.26723814T>ACA468482675PDSS1c.618T>A (p.Leu206=)
n.452T>A
c.26T>A
c.108T>A (p.Leu36=)
c.249T>A (p.Leu83=)
n.906T>A
c.297T>A (p.Leu99=)
10g.26723814T>CCA5446987PDSS1c.618T>C (p.Leu206=)
n.452T>C
c.26T>C
c.108T>C (p.Leu36=)
c.249T>C (p.Leu83=)
n.906T>C
c.297T>C (p.Leu99=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.26723814T>GCA468482677PDSS1c.618T>G (p.Leu206=)
n.452T>G
c.26T>G
c.108T>G (p.Leu36=)
c.249T>G (p.Leu83=)
n.906T>G
c.297T>G (p.Leu99=)
10g.26723814T=CA1898160346PDSS1c.618T= (p.Leu206=)
n.452T=
c.26T=
c.108T= (p.Leu36=)
c.249T= (p.Leu83=)
n.906T=
c.297T= (p.Leu99=)
10g.26723815G>ACA376348084PDSS1c.619G>A (p.Ala207Thr)
n.453G>A
c.27G>A
c.109G>A (p.Ala37Thr)
c.250G>A (p.Ala84Thr)
n.907G>A
c.298G>A (p.Ala100Thr)
 dbSNP
10g.26723815G>CCA376348085PDSS1c.619G>C (p.Ala207Pro)
n.453G>C
c.27G>C
c.109G>C (p.Ala37Pro)
c.250G>C (p.Ala84Pro)
n.907G>C
c.298G>C (p.Ala100Pro)
10g.26723815G=CA1898160348PDSS1c.619G= (p.Ala207=)
n.453G=
c.27G=
c.109G= (p.Ala37=)
c.250G= (p.Ala84=)
n.907G=
c.298G= (p.Ala100=)
10g.26723815G>TCA376348086PDSS1c.619G>T (p.Ala207Ser)
n.453G>T
c.27G>T
c.109G>T (p.Ala37Ser)
c.250G>T (p.Ala84Ser)
n.907G>T
c.298G>T (p.Ala100Ser)
10g.26723816C>ACA376348087PDSS1c.620C>A (p.Ala207Asp)
n.454C>A
c.28C>A
c.110C>A (p.Ala37Asp)
c.251C>A (p.Ala84Asp)
n.908C>A
c.299C>A (p.Ala100Asp)
10g.26723816C>GCA376348088PDSS1c.620C>G (p.Ala207Gly)
n.454C>G
c.28C>G
c.110C>G (p.Ala37Gly)
c.251C>G (p.Ala84Gly)
n.908C>G
c.299C>G (p.Ala100Gly)
10g.26723816C>TCA376348089PDSS1c.620C>T (p.Ala207Val)
n.454C>T
c.28C>T
c.110C>T (p.Ala37Val)
c.251C>T (p.Ala84Val)
n.908C>T
c.299C>T (p.Ala100Val)
10g.26723817T>ACA468482685PDSS1c.621T>A (p.Ala207=)
n.455T>A
c.29T>A
c.111T>A (p.Ala37=)
c.252T>A (p.Ala84=)
n.909T>A
c.300T>A (p.Ala100=)
10g.26723817T>CCA468482686PDSS1c.621T>C (p.Ala207=)
n.455T>C
c.29T>C
c.111T>C (p.Ala37=)
c.252T>C (p.Ala84=)
n.909T>C
c.300T>C (p.Ala100=)
10g.26723817T>GCA468482687PDSS1c.621T>G (p.Ala207=)
n.455T>G
c.29T>G
c.111T>G (p.Ala37=)
c.252T>G (p.Ala84=)
n.909T>G
c.300T>G (p.Ala100=)
10g.26723818G>ACA376348092PDSS1c.622G>A (p.Gly208Arg)
n.456G>A
c.30G>A
c.112G>A (p.Gly38Arg)
c.253G>A (p.Gly85Arg)
n.910G>A
c.301G>A (p.Gly101Arg)
10g.26723818G>CCA376348091PDSS1c.622G>C (p.Gly208Arg)
n.456G>C
c.30G>C
c.112G>C (p.Gly38Arg)
c.253G>C (p.Gly85Arg)
n.910G>C
c.301G>C (p.Gly101Arg)
10g.26723818G=CA1898160352PDSS1c.622G= (p.Gly208=)
n.456G=
c.30G=
c.112G= (p.Gly38=)
c.253G= (p.Gly85=)
n.910G=
c.301G= (p.Gly101=)
10g.26723818G>TCA376348090PDSS1c.622G>T (p.Gly208Ter)
n.456G>T
c.30G>T
c.112G>T (p.Gly38Ter)
c.253G>T (p.Gly85Ter)
n.910G>T
c.301G>T (p.Gly101Ter)
 dbSNP
10g.26723819G>ACA376348093PDSS1c.623G>A (p.Gly208Glu)
n.457G>A
c.31G>A
c.113G>A (p.Gly38Glu)
c.254G>A (p.Gly85Glu)
n.911G>A
c.302G>A (p.Gly101Glu)
10g.26723819G>CCA376348094PDSS1c.623G>C (p.Gly208Ala)
n.457G>C
c.31G>C
c.113G>C (p.Gly38Ala)
c.254G>C (p.Gly85Ala)
n.911G>C
c.302G>C (p.Gly101Ala)
10g.26723819G>TCA376348095PDSS1c.623G>T (p.Gly208Val)
n.457G>T
c.31G>T
c.113G>T (p.Gly38Val)
c.254G>T (p.Gly85Val)
n.911G>T
c.302G>T (p.Gly101Val)
10g.26723820A=CA1898160355PDSS1c.624A= (p.Gly208=)
n.458A=
c.32A=
c.114A= (p.Gly38=)
c.255A= (p.Gly85=)
n.912A=
c.303A= (p.Gly101=)
10g.26723820A>CCA468482689PDSS1c.624A>C (p.Gly208=)
n.458A>C
c.32A>C
c.114A>C (p.Gly38=)
c.255A>C (p.Gly85=)
n.912A>C
c.303A>C (p.Gly101=)
 gnomAD v4
10g.26723820A>GCA468482692PDSS1c.624A>G (p.Gly208=)
n.458A>G
c.32A>G
c.114A>G (p.Gly38=)
c.255A>G (p.Gly85=)
n.912A>G
c.303A>G (p.Gly101=)
 dbSNP
10g.26723820A>TCA468482694PDSS1c.624A>T (p.Gly208=)
n.458A>T
c.32A>T
c.114A>T (p.Gly38=)
c.255A>T (p.Gly85=)
n.912A>T
c.303A>T (p.Gly101=)
10g.26723821G>ACA204403753PDSS1c.625G>A (p.Asp209Asn)
n.459G>A
c.33G>A
c.115G>A (p.Asp39Asn)
c.256G>A (p.Asp86Asn)
n.913G>A
c.304G>A (p.Asp102Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.26723821G>CCA376348096PDSS1c.625G>C (p.Asp209His)
n.459G>C
c.33G>C
c.115G>C (p.Asp39His)
c.256G>C (p.Asp86His)
n.913G>C
c.304G>C (p.Asp102His)
10g.26723821G=CA1898160360PDSS1c.625G= (p.Asp209=)
n.459G=
c.33G=
c.115G= (p.Asp39=)
c.256G= (p.Asp86=)
n.913G=
c.304G= (p.Asp102=)
10g.26723821G>TCA376348097PDSS1c.625G>T (p.Asp209Tyr)
n.459G>T
c.33G>T
c.115G>T (p.Asp39Tyr)
c.256G>T (p.Asp86Tyr)
n.913G>T
c.304G>T (p.Asp102Tyr)
 COSMIC
10g.26723822A>CCA376348098PDSS1c.626A>C (p.Asp209Ala)
n.460A>C
c.34A>C
c.116A>C (p.Asp39Ala)
c.257A>C (p.Asp86Ala)
n.914A>C
c.305A>C (p.Asp102Ala)
10g.26723822A>GCA376348099PDSS1c.626A>G (p.Asp209Gly)
n.460A>G
c.34A>G
c.116A>G (p.Asp39Gly)
c.257A>G (p.Asp86Gly)
n.914A>G
c.305A>G (p.Asp102Gly)
10g.26723822A>TCA376348100PDSS1c.626A>T (p.Asp209Val)
n.460A>T
c.34A>T
c.116A>T (p.Asp39Val)
c.257A>T (p.Asp86Val)
n.914A>T
c.305A>T (p.Asp102Val)
10g.26723823T>ACA376348101PDSS1c.627T>A (p.Asp209Glu)
n.461T>A
c.35T>A
c.117T>A (p.Asp39Glu)
c.258T>A (p.Asp86Glu)
n.915T>A
c.306T>A (p.Asp102Glu)
10g.26723823T>CCA468482697PDSS1c.627T>C (p.Asp209=)
n.461T>C
c.35T>C
c.117T>C (p.Asp39=)
c.258T>C (p.Asp86=)
n.915T>C
c.306T>C (p.Asp102=)
 gnomAD v4
10g.26723823T>GCA376348102PDSS1c.627T>G (p.Asp209Glu)
n.461T>G
c.35T>G
c.117T>G (p.Asp39Glu)
c.258T>G (p.Asp86Glu)
n.915T>G
c.306T>G (p.Asp102Glu)
10g.26723824T>ACA376348103PDSS1c.628T>A (p.Leu210Ile)
n.462T>A
c.36T>A
c.118T>A (p.Leu40Ile)
c.259T>A (p.Leu87Ile)
n.916T>A
c.307T>A (p.Leu103Ile)
 gnomAD v4
10g.26723824T>CCA468482699PDSS1c.628T>C (p.Leu210=)
n.462T>C
c.36T>C
c.118T>C (p.Leu40=)
c.259T>C (p.Leu87=)
n.916T>C
c.307T>C (p.Leu103=)
10g.26723824T>GCA376348104PDSS1c.628T>G (p.Leu210Val)
n.462T>G
c.36T>G
c.118T>G (p.Leu40Val)
c.259T>G (p.Leu87Val)
n.916T>G
c.307T>G (p.Leu103Val)
10g.26723825T>ACA376348107PDSS1c.629T>A (p.Leu210Ter)
n.463T>A
c.37T>A
c.119T>A (p.Leu40Ter)
c.260T>A (p.Leu87Ter)
n.917T>A
c.308T>A (p.Leu103Ter)
10g.26723825T>CCA376348105PDSS1c.629T>C (p.Leu210Ser)
n.463T>C
c.37T>C
c.119T>C (p.Leu40Ser)
c.260T>C (p.Leu87Ser)
n.917T>C
c.308T>C (p.Leu103Ser)
10g.26723825T>GCA376348106PDSS1c.629T>G (p.Leu210Ter)
n.463T>G
c.37T>G
c.119T>G (p.Leu40Ter)
c.260T>G (p.Leu87Ter)
n.917T>G
c.308T>G (p.Leu103Ter)
10g.26723826A>CCA376348108PDSS1c.630A>C (p.Leu210Phe)
n.464A>C
c.38A>C
c.120A>C (p.Leu40Phe)
c.261A>C (p.Leu87Phe)
n.918A>C
c.309A>C (p.Leu103Phe)
 ClinVar
10g.26723826A>GCA468482701PDSS1c.630A>G (p.Leu210=)
n.464A>G
c.38A>G
c.120A>G (p.Leu40=)
c.261A>G (p.Leu87=)
n.918A>G
c.309A>G (p.Leu103=)
10g.26723826A>TCA376348109PDSS1c.630A>T (p.Leu210Phe)
n.464A>T
c.38A>T
c.120A>T (p.Leu40Phe)
c.261A>T (p.Leu87Phe)
n.918A>T
c.309A>T (p.Leu103Phe)
10g.26723827A=CA1898160364PDSS1c.631A= (p.Ile211=)
n.465A=
c.39A=
c.121A= (p.Ile41=)
c.262A= (p.Ile88=)
n.919A=
c.310A= (p.Ile104=)
10g.26723827A>CCA376348110PDSS1c.631A>C (p.Ile211Leu)
n.465A>C
c.39A>C
c.121A>C (p.Ile41Leu)
c.262A>C (p.Ile88Leu)
n.919A>C
c.310A>C (p.Ile104Leu)
10g.26723827A>GCA376348111PDSS1c.631A>G (p.Ile211Val)
n.465A>G
c.39A>G
c.121A>G (p.Ile41Val)
c.262A>G (p.Ile88Val)
n.919A>G
c.310A>G (p.Ile104Val)
 dbSNP gnomAD v3 gnomAD v4
10g.26723827A>TCA376348112PDSS1c.631A>T (p.Ile211Phe)
n.465A>T
c.39A>T
c.121A>T (p.Ile41Phe)
c.262A>T (p.Ile88Phe)
n.919A>T
c.310A>T (p.Ile104Phe)
10g.26723828T>ACA376348113PDSS1c.632T>A (p.Ile211Asn)
n.466T>A
c.40T>A
c.122T>A (p.Ile41Asn)
c.263T>A (p.Ile88Asn)
n.920T>A
c.311T>A (p.Ile104Asn)
10g.26723828T>CCA376348114PDSS1c.632T>C (p.Ile211Thr)
n.466T>C
c.40T>C
c.122T>C (p.Ile41Thr)
c.263T>C (p.Ile88Thr)
n.920T>C
c.311T>C (p.Ile104Thr)
10g.26723828T>GCA376348115PDSS1c.632T>G (p.Ile211Ser)
n.466T>G
c.40T>G
c.122T>G (p.Ile41Ser)
c.263T>G (p.Ile88Ser)
n.920T>G
c.311T>G (p.Ile104Ser)
10g.26723829T>ACA468482708PDSS1c.633T>A (p.Ile211=)
n.467T>A
c.41T>A
c.123T>A (p.Ile41=)
c.264T>A (p.Ile88=)
n.921T>A
c.312T>A (p.Ile104=)
10g.26723829T>CCA468482706PDSS1c.633T>C (p.Ile211=)
n.467T>C
c.41T>C
c.123T>C (p.Ile41=)
c.264T>C (p.Ile88=)
n.921T>C
c.312T>C (p.Ile104=)
10g.26723829T>GCA376348116PDSS1c.633T>G (p.Ile211Met)
n.467T>G
c.41T>G
c.123T>G (p.Ile41Met)
c.264T>G (p.Ile88Met)
n.921T>G
c.312T>G (p.Ile104Met)
10g.26723830C>ACA5446988PDSS1c.634C>A (p.Leu212Ile)
n.468C>A
c.42C>A
c.124C>A (p.Leu42Ile)
c.265C>A (p.Leu89Ile)
n.922C>A
c.313C>A (p.Leu105Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.26723830C=CA1898160370PDSS1c.634C= (p.Leu212=)
n.468C=
c.42C=
c.124C= (p.Leu42=)
c.265C= (p.Leu89=)
n.922C=
c.313C= (p.Leu105=)
10g.26723830C>GCA376348117PDSS1c.634C>G (p.Leu212Val)
n.468C>G
c.42C>G
c.124C>G (p.Leu42Val)
c.265C>G (p.Leu89Val)
n.922C>G
c.313C>G (p.Leu105Val)
10g.26723830C>TCA376348118PDSS1c.634C>T (p.Leu212Phe)
n.468C>T
c.42C>T
c.124C>T (p.Leu42Phe)
c.265C>T (p.Leu89Phe)
n.922C>T
c.313C>T (p.Leu105Phe)
 dbSNP gnomAD v2 gnomAD v4
10g.26723831T>ACA376348121PDSS1c.635T>A (p.Leu212His)
n.469T>A
c.43T>A
c.125T>A (p.Leu42His)
c.266T>A (p.Leu89His)
n.923T>A
c.314T>A (p.Leu105His)
10g.26723831T>CCA376348120PDSS1c.635T>C (p.Leu212Pro)
n.469T>C
c.43T>C
c.125T>C (p.Leu42Pro)
c.266T>C (p.Leu89Pro)
n.923T>C
c.314T>C (p.Leu105Pro)
10g.26723831T>GCA376348119PDSS1c.635T>G (p.Leu212Arg)
n.469T>G
c.43T>G
c.125T>G (p.Leu42Arg)
c.266T>G (p.Leu89Arg)
n.923T>G
c.314T>G (p.Leu105Arg)
10g.26723832T>ACA468482713PDSS1c.636T>A (p.Leu212=)
n.470T>A
c.44T>A
c.126T>A (p.Leu42=)
c.267T>A (p.Leu89=)
n.924T>A
c.315T>A (p.Leu105=)
10g.26723832T>CCA468482715PDSS1c.636T>C (p.Leu212=)
n.470T>C
c.44T>C
c.126T>C (p.Leu42=)
c.267T>C (p.Leu89=)
n.924T>C
c.315T>C (p.Leu105=)
10g.26723832T>GCA468482714PDSS1c.636T>G (p.Leu212=)
n.470T>G
c.44T>G
c.126T>G (p.Leu42=)
c.267T>G (p.Leu89=)
n.924T>G
c.315T>G (p.Leu105=)
10g.26723833T>ACA376348122PDSS1c.637T>A (p.Ser213Thr)
n.471T>A
c.45T>A
c.127T>A (p.Ser43Thr)
c.268T>A (p.Ser90Thr)
n.925T>A
c.316T>A (p.Ser106Thr)
10g.26723833T>CCA376348124PDSS1c.637T>C (p.Ser213Pro)
n.471T>C
c.45T>C
c.127T>C (p.Ser43Pro)
c.268T>C (p.Ser90Pro)
n.925T>C
c.316T>C (p.Ser106Pro)
10g.26723833T>GCA376348123PDSS1c.637T>G (p.Ser213Ala)
n.471T>G
c.45T>G
c.127T>G (p.Ser43Ala)
c.268T>G (p.Ser90Ala)
n.925T>G
c.316T>G (p.Ser106Ala)
10g.26723834C>ACA376348125PDSS1c.638C>A (p.Ser213Tyr)
n.472C>A
c.46C>A
c.128C>A (p.Ser43Tyr)
c.269C>A (p.Ser90Tyr)
n.926C>A
c.317C>A (p.Ser106Tyr)
 gnomAD v4
10g.26723834C>GCA376348127PDSS1c.638C>G (p.Ser213Cys)
n.472C>G
c.46C>G
c.128C>G (p.Ser43Cys)
c.269C>G (p.Ser90Cys)
n.926C>G
c.317C>G (p.Ser106Cys)
 gnomAD v4
10g.26723834C>TCA376348126PDSS1c.638C>T (p.Ser213Phe)
n.472C>T
c.46C>T
c.128C>T (p.Ser43Phe)
c.269C>T (p.Ser90Phe)
n.926C>T
c.317C>T (p.Ser106Phe)
10g.26723835T>ACA468482718PDSS1c.639T>A (p.Ser213=)
n.473T>A
c.47T>A
c.129T>A (p.Ser43=)
c.270T>A (p.Ser90=)
n.927T>A
c.318T>A (p.Ser106=)
10g.26723835T>CCA468482719PDSS1c.639T>C (p.Ser213=)
n.473T>C
c.47T>C
c.129T>C (p.Ser43=)
c.270T>C (p.Ser90=)
n.927T>C
c.318T>C (p.Ser106=)
 ClinVar dbSNP
10g.26723835T>GCA468482720PDSS1c.639T>G (p.Ser213=)
n.473T>G
c.47T>G
c.129T>G (p.Ser43=)
c.270T>G (p.Ser90=)
n.927T>G
c.318T>G (p.Ser106=)
10g.26723835T=CA1898160373PDSS1c.639T= (p.Ser213=)
n.473T=
c.47T=
c.129T= (p.Ser43=)
c.270T= (p.Ser90=)
n.927T=
c.318T= (p.Ser106=)
10g.26723836G>ACA376348128PDSS1c.640G>A (p.Ala214Thr)
n.474G>A
c.48G>A
c.130G>A (p.Ala44Thr)
c.271G>A (p.Ala91Thr)
n.928G>A
c.319G>A (p.Ala107Thr)
 gnomAD v4
10g.26723836G>CCA376348129PDSS1c.640G>C (p.Ala214Pro)
n.474G>C
c.48G>C
c.130G>C (p.Ala44Pro)
c.271G>C (p.Ala91Pro)
n.928G>C
c.319G>C (p.Ala107Pro)
10g.26723836G>TCA376348130PDSS1c.640G>T (p.Ala214Ser)
n.474G>T
c.48G>T
c.130G>T (p.Ala44Ser)
c.271G>T (p.Ala91Ser)
n.928G>T
c.319G>T (p.Ala107Ser)
10g.26723837C>ACA376348131PDSS1c.641C>A (p.Ala214Glu)
n.475C>A
c.49C>A
c.131C>A (p.Ala44Glu)
c.272C>A (p.Ala91Glu)
n.929C>A
c.320C>A (p.Ala107Glu)
10g.26723837C=CA1898160379PDSS1c.641C= (p.Ala214=)
n.475C=
c.49C=
c.131C= (p.Ala44=)
c.272C= (p.Ala91=)
n.929C=
c.320C= (p.Ala107=)
10g.26723837C>GCA376348132PDSS1c.641C>G (p.Ala214Gly)
n.475C>G
c.49C>G
c.131C>G (p.Ala44Gly)
c.272C>G (p.Ala91Gly)
n.929C>G
c.320C>G (p.Ala107Gly)
10g.26723837C>TCA204403754PDSS1c.641C>T (p.Ala214Val)
n.475C>T
c.49C>T
c.131C>T (p.Ala44Val)
c.272C>T (p.Ala91Val)
n.929C>T
c.320C>T (p.Ala107Val)
 dbSNP gnomAD v4
10g.26723838A>CCA468482722PDSS1c.642A>C (p.Ala214=)
n.476A>C
c.50A>C
c.132A>C (p.Ala44=)
c.273A>C (p.Ala91=)
n.930A>C
c.321A>C (p.Ala107=)
10g.26723838A>GCA468482723PDSS1c.642A>G (p.Ala214=)
n.476A>G
c.50A>G
c.132A>G (p.Ala44=)
c.273A>G (p.Ala91=)
n.930A>G
c.321A>G (p.Ala107=)
 gnomAD v4
10g.26723838A>TCA468482725PDSS1c.642A>T (p.Ala214=)
n.476A>T
c.50A>T
c.132A>T (p.Ala44=)
c.273A>T (p.Ala91=)
n.930A>T
c.321A>T (p.Ala107=)
10g.26723839G>ACA376348133PDSS1c.643G>A (p.Ala215Thr)
n.477G>A
c.51G>A
c.133G>A (p.Ala45Thr)
c.274G>A (p.Ala92Thr)
n.931G>A
c.322G>A (p.Ala108Thr)
 gnomAD v4
10g.26723839G>CCA376348134PDSS1c.643G>C (p.Ala215Pro)
n.477G>C
c.51G>C
c.133G>C (p.Ala45Pro)
c.274G>C (p.Ala92Pro)
n.931G>C
c.322G>C (p.Ala108Pro)
10g.26723839G>TCA376348135PDSS1c.643G>T (p.Ala215Ser)
n.477G>T
c.51G>T
c.133G>T (p.Ala45Ser)
c.274G>T (p.Ala92Ser)
n.931G>T
c.322G>T (p.Ala108Ser)
10g.26723840C>ACA376348136PDSS1c.644C>A (p.Ala215Glu)
n.478C>A
c.52C>A
c.134C>A (p.Ala45Glu)
c.275C>A (p.Ala92Glu)
n.932C>A
c.323C>A (p.Ala108Glu)
10g.26723840C>GCA376348137PDSS1c.644C>G (p.Ala215Gly)
n.478C>G
c.52C>G
c.134C>G (p.Ala45Gly)
c.275C>G (p.Ala92Gly)
n.932C>G
c.323C>G (p.Ala108Gly)
10g.26723840C>TCA376348138PDSS1c.644C>T (p.Ala215Val)
n.478C>T
c.52C>T
c.134C>T (p.Ala45Val)
c.275C>T (p.Ala92Val)
n.932C>T
c.323C>T (p.Ala108Val)
10g.26723841A>CCA468482728PDSS1c.645A>C (p.Ala215=)
n.479A>C
c.53A>C
c.135A>C (p.Ala45=)
c.276A>C (p.Ala92=)
n.933A>C
c.324A>C (p.Ala108=)
10g.26723841A>GCA468482729PDSS1c.645A>G (p.Ala215=)
n.479A>G
c.53A>G
c.135A>G (p.Ala45=)
c.276A>G (p.Ala92=)
n.933A>G
c.324A>G (p.Ala108=)
10g.26723841A>TCA468482730PDSS1c.645A>T (p.Ala215=)
n.479A>T
c.53A>T
c.135A>T (p.Ala45=)
c.276A>T (p.Ala92=)
n.933A>T
c.324A>T (p.Ala108=)
10g.26723842T>ACA376348141PDSS1c.646T>A (p.Ser216Thr)
n.480T>A
c.54T>A
c.136T>A (p.Ser46Thr)
c.277T>A (p.Ser93Thr)
n.934T>A
c.325T>A (p.Ser109Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.26723842T>CCA376348140PDSS1c.646T>C (p.Ser216Pro)
n.480T>C
c.54T>C
c.136T>C (p.Ser46Pro)
c.277T>C (p.Ser93Pro)
n.934T>C
c.325T>C (p.Ser109Pro)
10g.26723842T>GCA376348139PDSS1c.646T>G (p.Ser216Ala)
n.480T>G
c.54T>G
c.136T>G (p.Ser46Ala)
c.277T>G (p.Ser93Ala)
n.934T>G
c.325T>G (p.Ser109Ala)
10g.26723842T=CA1898160381PDSS1c.646T= (p.Ser216=)
n.480T=
c.54T=
c.136T= (p.Ser46=)
c.277T= (p.Ser93=)
n.934T=
c.325T= (p.Ser109=)
10g.26723843C>ACA376348142PDSS1c.647C>A (p.Ser216Tyr)
n.481C>A
c.55C>A
c.137C>A (p.Ser46Tyr)
c.278C>A (p.Ser93Tyr)
n.935C>A
c.326C>A (p.Ser109Tyr)
10g.26723843C>GCA376348143PDSS1c.647C>G (p.Ser216Cys)
n.481C>G
c.55C>G
c.137C>G (p.Ser46Cys)
c.278C>G (p.Ser93Cys)
n.935C>G
c.326C>G (p.Ser109Cys)
 COSMIC
10g.26723843C>TCA376348144PDSS1c.647C>T (p.Ser216Phe)
n.481C>T
c.55C>T
c.137C>T (p.Ser46Phe)
c.278C>T (p.Ser93Phe)
n.935C>T
c.326C>T (p.Ser109Phe)
10g.26723844T>ACA468482733PDSS1c.648T>A (p.Ser216=)
n.482T>A
c.56T>A
c.138T>A (p.Ser46=)
c.279T>A (p.Ser93=)
n.936T>A
c.327T>A (p.Ser109=)
10g.26723844T>CCA468482734PDSS1c.648T>C (p.Ser216=)
n.482T>C
c.56T>C
c.138T>C (p.Ser46=)
c.279T>C (p.Ser93=)
n.936T>C
c.327T>C (p.Ser109=)
 dbSNP gnomAD v4
10g.26723844T>GCA468482735PDSS1c.648T>G (p.Ser216=)
n.482T>G
c.56T>G
c.138T>G (p.Ser46=)
c.279T>G (p.Ser93=)
n.936T>G
c.327T>G (p.Ser109=)
10g.26723844T=CA1898160386PDSS1c.648T= (p.Ser216=)
n.482T=
c.56T=
c.138T= (p.Ser46=)
c.279T= (p.Ser93=)
n.936T=
c.327T= (p.Ser109=)
10g.26723845A=CA1898160395PDSS1c.649A= (p.Ile217=)
n.483A=
c.57A=
c.139A= (p.Ile47=)
c.280A= (p.Ile94=)
n.937A=
c.328A= (p.Ile110=)
10g.26723845A>CCA204403755PDSS1c.649A>C (p.Ile217Leu)
n.483A>C
c.57A>C
c.139A>C (p.Ile47Leu)
c.280A>C (p.Ile94Leu)
n.937A>C
c.328A>C (p.Ile110Leu)
 dbSNP
10g.26723845A>GCA5446989PDSS1c.649A>G (p.Ile217Val)
n.483A>G
c.57A>G
c.139A>G (p.Ile47Val)
c.280A>G (p.Ile94Val)
n.937A>G
c.328A>G (p.Ile110Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.26723845A>TCA376348145PDSS1c.649A>T (p.Ile217Leu)
n.483A>T
c.57A>T
c.139A>T (p.Ile47Leu)
c.280A>T (p.Ile94Leu)
n.937A>T
c.328A>T (p.Ile110Leu)
10g.26723846T>ACA376348146PDSS1c.650T>A (p.Ile217Lys)
n.484T>A
c.58T>A
c.140T>A (p.Ile47Lys)
c.281T>A (p.Ile94Lys)
n.938T>A
c.329T>A (p.Ile110Lys)
10g.26723846T>CCA376348147PDSS1c.650T>C (p.Ile217Thr)
n.484T>C
c.58T>C
c.140T>C (p.Ile47Thr)
c.281T>C (p.Ile94Thr)
n.938T>C
c.329T>C (p.Ile110Thr)
 ClinVar dbSNP gnomAD v4
10g.26723846T>GCA376348148PDSS1c.650T>G (p.Ile217Arg)
n.484T>G
c.58T>G
c.140T>G (p.Ile47Arg)
c.281T>G (p.Ile94Arg)
n.938T>G
c.329T>G (p.Ile110Arg)
10g.26723847A=CA1898160398PDSS1c.651A= (p.Ile217=)
n.485A=
c.59A=
c.141A= (p.Ile47=)
c.282A= (p.Ile94=)
n.939A=
c.330A= (p.Ile110=)
10g.26723847A>CCA468482739PDSS1c.651A>C (p.Ile217=)
n.485A>C
c.59A>C
c.141A>C (p.Ile47=)
c.282A>C (p.Ile94=)
n.939A>C
c.330A>C (p.Ile110=)
10g.26723847A>GCA376348149PDSS1c.651A>G (p.Ile217Met)
n.485A>G
c.59A>G
c.141A>G (p.Ile47Met)
c.282A>G (p.Ile94Met)
n.939A>G
c.330A>G (p.Ile110Met)
 dbSNP gnomAD v2 gnomAD v4
10g.26723847A>TCA468482738PDSS1c.651A>T (p.Ile217=)
n.485A>T
c.59A>T
c.141A>T (p.Ile47=)
c.282A>T (p.Ile94=)
n.939A>T
c.330A>T (p.Ile110=)
10g.26723848G>ACA376348150PDSS1c.652G>A (p.Ala218Thr)
n.486G>A
c.60G>A
c.142G>A (p.Ala48Thr)
c.283G>A (p.Ala95Thr)
n.940G>A
c.331G>A (p.Ala111Thr)
10g.26723848G>CCA376348151PDSS1c.652G>C (p.Ala218Pro)
n.486G>C
c.60G>C
c.142G>C (p.Ala48Pro)
c.283G>C (p.Ala95Pro)
n.940G>C
c.331G>C (p.Ala111Pro)
10g.26723848G>TCA376348152PDSS1c.652G>T (p.Ala218Ser)
n.486G>T
c.60G>T
c.142G>T (p.Ala48Ser)
c.283G>T (p.Ala95Ser)
n.940G>T
c.331G>T (p.Ala111Ser)
 gnomAD v4
10g.26723849C>ACA376348154PDSS1c.653C>A (p.Ala218Asp)
n.487C>A
c.61C>A
c.143C>A (p.Ala48Asp)
c.284C>A (p.Ala95Asp)
n.941C>A
c.332C>A (p.Ala111Asp)
10g.26723849C>GCA376348155PDSS1c.653C>G (p.Ala218Gly)
n.487C>G
c.61C>G
c.143C>G (p.Ala48Gly)
c.284C>G (p.Ala95Gly)
n.941C>G
c.332C>G (p.Ala111Gly)
10g.26723849C>TCA376348153PDSS1c.653C>T (p.Ala218Val)
n.487C>T
c.61C>T
c.143C>T (p.Ala48Val)
c.284C>T (p.Ala95Val)
n.941C>T
c.332C>T (p.Ala111Val)
10g.26723850T>ACA468482747PDSS1c.654T>A (p.Ala218=)
n.488T>A
c.62T>A
c.144T>A (p.Ala48=)
c.285T>A (p.Ala95=)
n.942T>A
c.333T>A (p.Ala111=)
10g.26723850T>CCA468482748PDSS1c.654T>C (p.Ala218=)
n.488T>C
c.62T>C
c.144T>C (p.Ala48=)
c.285T>C (p.Ala95=)
n.942T>C
c.333T>C (p.Ala111=)
10g.26723850T>GCA5446990PDSS1c.654T>G (p.Ala218=)
n.488T>G
c.62T>G
c.144T>G (p.Ala48=)
c.285T>G (p.Ala95=)
n.942T>G
c.333T>G (p.Ala111=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.26723850T=CA1898160401PDSS1c.654T= (p.Ala218=)
n.488T=
c.62T=
c.144T= (p.Ala48=)
c.285T= (p.Ala95=)
n.942T=
c.333T= (p.Ala111=)
10g.26723851C>ACA376348156PDSS1c.655C>A (p.Leu219Met)
n.489C>A
c.63C>A
c.145C>A (p.Leu49Met)
c.286C>A (p.Leu96Met)
n.943C>A
c.334C>A (p.Leu112Met)
10g.26723851C=CA1898160405PDSS1c.655C= (p.Leu219=)
n.489C=
c.63C=
c.145C= (p.Leu49=)
c.286C= (p.Leu96=)
n.943C=
c.334C= (p.Leu112=)
10g.26723851C>GCA376348157PDSS1c.655C>G (p.Leu219Val)
n.489C>G
c.63C>G
c.145C>G (p.Leu49Val)
c.286C>G (p.Leu96Val)
n.943C>G
c.334C>G (p.Leu112Val)
 dbSNP gnomAD v3 gnomAD v4
10g.26723851C>TCA468482749PDSS1c.655C>T (p.Leu219=)
n.489C>T
c.63C>T
c.145C>T (p.Leu49=)
c.286C>T (p.Leu96=)
n.943C>T
c.334C>T (p.Leu112=)
10g.26723852T>ACA376348158PDSS1c.656T>A (p.Leu219Gln)
n.490T>A
c.64T>A
c.146T>A (p.Leu49Gln)
c.287T>A (p.Leu96Gln)
n.944T>A
c.335T>A (p.Leu112Gln)
10g.26723852T>CCA376348159PDSS1c.656T>C (p.Leu219Pro)
n.490T>C
c.64T>C
c.146T>C (p.Leu49Pro)
c.287T>C (p.Leu96Pro)
n.944T>C
c.335T>C (p.Leu112Pro)
10g.26723852T>GCA376348160PDSS1c.656T>G (p.Leu219Arg)
n.490T>G
c.64T>G
c.146T>G (p.Leu49Arg)
c.287T>G (p.Leu96Arg)
n.944T>G
c.335T>G (p.Leu112Arg)
10g.26723853G>ACA468482753PDSS1c.657G>A (p.Leu219=)
n.491G>A
c.65G>A
c.147G>A (p.Leu49=)
c.288G>A (p.Leu96=)
n.945G>A
c.336G>A (p.Leu112=)
 dbSNP gnomAD v3 gnomAD v4
10g.26723853G>CCA468482754PDSS1c.657G>C (p.Leu219=)
n.491G>C
c.65G>C
c.147G>C (p.Leu49=)
c.288G>C (p.Leu96=)
n.945G>C
c.336G>C (p.Leu112=)
10g.26723853G=CA1898160408PDSS1c.657G= (p.Leu219=)
n.491G=
c.65G=
c.147G= (p.Leu49=)
c.288G= (p.Leu96=)
n.945G=
c.336G= (p.Leu112=)
10g.26723853G>TCA468482756PDSS1c.657G>T (p.Leu219=)
n.491G>T
c.65G>T
c.147G>T (p.Leu49=)
c.288G>T (p.Leu96=)
n.945G>T
c.336G>T (p.Leu112=)
10g.26723854G>ACA376348161PDSS1c.658G>A (p.Ala220Thr)
n.492G>A
c.66G>A
c.148G>A (p.Ala50Thr)
c.289G>A (p.Ala97Thr)
n.946G>A
c.337G>A (p.Ala113Thr)
10g.26723854G>CCA376348162PDSS1c.658G>C (p.Ala220Pro)
n.492G>C
c.66G>C
c.148G>C (p.Ala50Pro)
c.289G>C (p.Ala97Pro)
n.946G>C
c.337G>C (p.Ala113Pro)
10g.26723854G>TCA376348163PDSS1c.658G>T (p.Ala220Ser)
n.492G>T
c.66G>T
c.148G>T (p.Ala50Ser)
c.289G>T (p.Ala97Ser)
n.946G>T
c.337G>T (p.Ala113Ser)
10g.26723855C>ACA376348164PDSS1c.659C>A (p.Ala220Glu)
n.493C>A
c.67C>A
c.149C>A (p.Ala50Glu)
c.290C>A (p.Ala97Glu)
n.947C>A
c.338C>A (p.Ala113Glu)
10g.26723855C>GCA376348165PDSS1c.659C>G (p.Ala220Gly)
n.493C>G
c.67C>G
c.149C>G (p.Ala50Gly)
c.290C>G (p.Ala97Gly)
n.947C>G
c.338C>G (p.Ala113Gly)
10g.26723855C>TCA376348166PDSS1c.659C>T (p.Ala220Val)
n.493C>T
c.67C>T
c.149C>T (p.Ala50Val)
c.290C>T (p.Ala97Val)
n.947C>T
c.338C>T (p.Ala113Val)
 gnomAD v4
10g.26723856A>CCA468482761PDSS1c.660A>C (p.Ala220=)
n.494A>C
c.68A>C
c.150A>C (p.Ala50=)
c.291A>C (p.Ala97=)
n.948A>C
c.339A>C (p.Ala113=)
10g.26723856A>GCA468482762PDSS1c.660A>G (p.Ala220=)
n.494A>G
c.68A>G
c.150A>G (p.Ala50=)
c.291A>G (p.Ala97=)
n.948A>G
c.339A>G (p.Ala113=)
10g.26723856A>TCA468482763PDSS1c.660A>T (p.Ala220=)
n.494A>T
c.68A>T
c.150A>T (p.Ala50=)
c.291A>T (p.Ala97=)
n.948A>T
c.339A>T (p.Ala113=)
10g.26723857C>ACA468482764PDSS1c.661C>A (p.Arg221=)
n.495C>A
c.69C>A
c.151C>A (p.Arg51=)
c.292C>A (p.Arg98=)
n.949C>A
c.340C>A (p.Arg114=)
10g.26723857C=CA1898160417PDSS1c.661C= (p.Arg221=)
n.495C=
c.69C=
c.151C= (p.Arg51=)
c.292C= (p.Arg98=)
n.949C=
c.340C= (p.Arg114=)
10g.26723857C>GCA376348167PDSS1c.661C>G (p.Arg221Gly)
n.495C>G
c.69C>G
c.151C>G (p.Arg51Gly)
c.292C>G (p.Arg98Gly)
n.949C>G
c.340C>G (p.Arg114Gly)
10g.26723857C>TCA5446991PDSS1c.661C>T (p.Arg221Ter)
n.495C>T
c.69C>T
c.151C>T (p.Arg51Ter)
c.292C>T (p.Arg98Ter)
n.949C>T
c.340C>T (p.Arg114Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.26723857_26723858insTCA16044187PDSS1c.661_662insT (p.Arg221LeufsTer16)
n.495_496insT
c.69_70insT
c.151_152insT (p.Arg51LeufsTer16)
c.292_293insT (p.Arg98LeufsTer16)
n.949_950insT
c.340_341insT (p.Arg114LeufsTer16)
 ClinVar dbSNP
10g.26723858G>ACA5446992PDSS1c.662G>A (p.Arg221Gln)
n.496G>A
c.70G>A
c.152G>A (p.Arg51Gln)
c.293G>A (p.Arg98Gln)
n.950G>A
c.341G>A (p.Arg114Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.26723858G>CCA376348168PDSS1c.662G>C (p.Arg221Pro)
n.496G>C
c.70G>C
c.152G>C (p.Arg51Pro)
c.293G>C (p.Arg98Pro)
n.950G>C
c.341G>C (p.Arg114Pro)
10g.26723858G=CA1898160426PDSS1c.662G= (p.Arg221=)
n.496G=
c.70G=
c.152G= (p.Arg51=)
c.293G= (p.Arg98=)
n.950G=
c.341G= (p.Arg114=)
10g.26723858G>TCA376348169PDSS1c.662G>T (p.Arg221Leu)
n.496G>T
c.70G>T
c.152G>T (p.Arg51Leu)
c.293G>T (p.Arg98Leu)
n.950G>T
c.341G>T (p.Arg114Leu)
10g.26723859A>CCA468482771PDSS1c.663A>C (p.Arg221=)
n.497A>C
c.71A>C
c.153A>C (p.Arg51=)
c.294A>C (p.Arg98=)
n.951A>C
c.342A>C (p.Arg114=)
10g.26723859A>GCA468482773PDSS1c.663A>G (p.Arg221=)
n.497A>G
c.71A>G
c.153A>G (p.Arg51=)
c.294A>G (p.Arg98=)
n.951A>G
c.342A>G (p.Arg114=)
10g.26723859A>TCA468482772PDSS1c.663A>T (p.Arg221=)
n.497A>T
c.71A>T
c.153A>T (p.Arg51=)
c.294A>T (p.Arg98=)
n.951A>T
c.342A>T (p.Arg114=)
10g.26723860A>CCA376348171PDSS1c.664A>C (p.Ile222Leu)
n.498A>C
c.72A>C
c.154A>C (p.Ile52Leu)
c.295A>C (p.Ile99Leu)
n.952A>C
c.343A>C (p.Ile115Leu)
10g.26723860A>GCA376348173PDSS1c.664A>G (p.Ile222Val)
n.498A>G
c.72A>G
c.154A>G (p.Ile52Val)
c.295A>G (p.Ile99Val)
n.952A>G
c.343A>G (p.Ile115Val)
10g.26723860A>TCA376348175PDSS1c.664A>T (p.Ile222Phe)
n.498A>T
c.72A>T
c.154A>T (p.Ile52Phe)
c.295A>T (p.Ile99Phe)
n.952A>T
c.343A>T (p.Ile115Phe)
10g.26723861T>ACA376348179PDSS1c.665T>A (p.Ile222Asn)
n.499T>A
c.73T>A
c.155T>A (p.Ile52Asn)
c.296T>A (p.Ile99Asn)
n.953T>A
c.344T>A (p.Ile115Asn)
10g.26723861T>CCA5446993PDSS1c.665T>C (p.Ile222Thr)
n.499T>C
c.73T>C
c.155T>C (p.Ile52Thr)
c.296T>C (p.Ile99Thr)
n.953T>C
c.344T>C (p.Ile115Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.26723861T>GCA376348183PDSS1c.665T>G (p.Ile222Ser)
n.499T>G
c.73T>G
c.155T>G (p.Ile52Ser)
c.296T>G (p.Ile99Ser)
n.953T>G
c.344T>G (p.Ile115Ser)
10g.26723861T=CA1898160430PDSS1c.665T= (p.Ile222=)
n.499T=
c.73T=
c.155T= (p.Ile52=)
c.296T= (p.Ile99=)
n.953T=
c.344T= (p.Ile115=)
10g.26723862T>ACA468482774PDSS1c.666T>A (p.Ile222=)
n.500T>A
c.74T>A
c.156T>A (p.Ile52=)
c.297T>A (p.Ile99=)
n.954T>A
c.345T>A (p.Ile115=)
10g.26723862T>CCA468482775PDSS1c.666T>C (p.Ile222=)
n.500T>C
c.74T>C
c.156T>C (p.Ile52=)
c.297T>C (p.Ile99=)
n.954T>C
c.345T>C (p.Ile115=)
10g.26723862T>GCA376348185PDSS1c.666T>G (p.Ile222Met)
n.500T>G
c.74T>G
c.156T>G (p.Ile52Met)
c.297T>G (p.Ile99Met)
n.954T>G
c.345T>G (p.Ile115Met)
10g.26723863G>ACA376348191PDSS1c.667G>A (p.Gly223Arg)
n.501G>A
c.75G>A
c.157G>A (p.Gly53Arg)
c.298G>A (p.Gly100Arg)
n.955G>A
c.346G>A (p.Gly116Arg)
10g.26723863G>CCA376348189PDSS1c.667G>C (p.Gly223Arg)
n.501G>C
c.75G>C
c.157G>C (p.Gly53Arg)
c.298G>C (p.Gly100Arg)
n.955G>C
c.346G>C (p.Gly116Arg)
10g.26723863G>TCA376348187PDSS1c.667G>T (p.Gly223Ter)
n.501G>T
c.75G>T
c.157G>T (p.Gly53Ter)
c.298G>T (p.Gly100Ter)
n.955G>T
c.346G>T (p.Gly116Ter)
10g.26723864G>ACA376348193PDSS1c.668G>A (p.Gly223Glu)
n.502G>A
c.76G>A
c.158G>A (p.Gly53Glu)
c.299G>A (p.Gly100Glu)
n.956G>A
c.347G>A (p.Gly116Glu)
10g.26723864G>CCA376348195PDSS1c.668G>C (p.Gly223Ala)
n.502G>C
c.76G>C
c.158G>C (p.Gly53Ala)
c.299G>C (p.Gly100Ala)
n.956G>C
c.347G>C (p.Gly116Ala)
10g.26723864G>TCA376348197PDSS1c.668G>T (p.Gly223Val)
n.502G>T
c.76G>T
c.158G>T (p.Gly53Val)
c.299G>T (p.Gly100Val)
n.956G>T
c.347G>T (p.Gly116Val)
10g.26723865A>CCA468482776PDSS1c.669A>C (p.Gly223=)
n.503A>C
c.77A>C
c.159A>C (p.Gly53=)
c.300A>C (p.Gly100=)
n.957A>C
c.348A>C (p.Gly116=)
10g.26723865A>GCA468482777PDSS1c.669A>G (p.Gly223=)
n.503A>G
c.77A>G
c.159A>G (p.Gly53=)
c.300A>G (p.Gly100=)
n.957A>G
c.348A>G (p.Gly116=)
10g.26723865A>TCA468482778PDSS1c.669A>T (p.Gly223=)
n.503A>T
c.77A>T
c.159A>T (p.Gly53=)
c.300A>T (p.Gly100=)
n.957A>T
c.348A>T (p.Gly116=)
10g.26723866A>CCA376348199PDSS1c.670A>C (p.Asn224His)
n.504A>C
c.78A>C
c.160A>C (p.Asn54His)
c.301A>C (p.Asn101His)
n.958A>C
c.349A>C (p.Asn117His)
10g.26723866A>GCA376348201PDSS1c.670A>G (p.Asn224Asp)
n.504A>G
c.78A>G
c.160A>G (p.Asn54Asp)
c.301A>G (p.Asn101Asp)
n.958A>G
c.349A>G (p.Asn117Asp)
10g.26723866A>TCA376348202PDSS1c.670A>T (p.Asn224Tyr)
n.504A>T
c.78A>T
c.160A>T (p.Asn54Tyr)
c.301A>T (p.Asn101Tyr)
n.958A>T
c.349A>T (p.Asn117Tyr)
10g.26723867A>CCA376348206PDSS1c.671A>C (p.Asn224Thr)
n.505A>C
c.79A>C
c.161A>C (p.Asn54Thr)
c.302A>C (p.Asn101Thr)
n.959A>C
c.350A>C (p.Asn117Thr)
10g.26723867A>GCA376348203PDSS1c.671A>G (p.Asn224Ser)
n.505A>G
c.79A>G
c.161A>G (p.Asn54Ser)
c.302A>G (p.Asn101Ser)
n.959A>G
c.350A>G (p.Asn117Ser)
 COSMIC
10g.26723867A>TCA376348205PDSS1c.671A>T (p.Asn224Ile)
n.505A>T
c.79A>T
c.161A>T (p.Asn54Ile)
c.302A>T (p.Asn101Ile)
n.959A>T
c.350A>T (p.Asn117Ile)
10g.26723868T>ACA376348209PDSS1c.672T>A (p.Asn224Lys)
n.506T>A
c.80T>A
c.162T>A (p.Asn54Lys)
c.303T>A (p.Asn101Lys)
n.960T>A
c.351T>A (p.Asn117Lys)
10g.26723868T>CCA468482779PDSS1c.672T>C (p.Asn224=)
n.506T>C
c.80T>C
c.162T>C (p.Asn54=)
c.303T>C (p.Asn101=)
n.960T>C
c.351T>C (p.Asn117=)
 COSMIC
10g.26723868T>GCA376348210PDSS1c.672T>G (p.Asn224Lys)
n.506T>G
c.80T>G
c.162T>G (p.Asn54Lys)
c.303T>G (p.Asn101Lys)
n.960T>G
c.351T>G (p.Asn117Lys)
10g.26723869A=CA1898160435PDSS1c.673A= (p.Thr225=)
n.507A=
c.81A=
c.163A= (p.Thr55=)
c.304A= (p.Thr102=)
n.961A=
c.352A= (p.Thr118=)
10g.26723869A>CCA376348213PDSS1c.673A>C (p.Thr225Pro)
n.507A>C
c.81A>C
c.163A>C (p.Thr55Pro)
c.304A>C (p.Thr102Pro)
n.961A>C
c.352A>C (p.Thr118Pro)
10g.26723869A>GCA376348215PDSS1c.673A>G (p.Thr225Ala)
n.507A>G
c.81A>G
c.163A>G (p.Thr55Ala)
c.304A>G (p.Thr102Ala)
n.961A>G
c.352A>G (p.Thr118Ala)
 dbSNP gnomAD v2 gnomAD v4
10g.26723869A>TCA5446994PDSS1c.673A>T (p.Thr225Ser)
n.507A>T
c.81A>T
c.163A>T (p.Thr55Ser)
c.304A>T (p.Thr102Ser)
n.961A>T
c.352A>T (p.Thr118Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.26723870C>ACA376348221PDSS1c.674C>A (p.Thr225Lys)
n.508C>A
c.82C>A
c.164C>A (p.Thr55Lys)
c.305C>A (p.Thr102Lys)
n.962C>A
c.353C>A (p.Thr118Lys)
10g.26723870C=CA1898160438PDSS1c.674C= (p.Thr225=)
n.508C=
c.82C=
c.164C= (p.Thr55=)
c.305C= (p.Thr102=)
n.962C=
c.353C= (p.Thr118=)
10g.26723870C>GCA376348218PDSS1c.674C>G (p.Thr225Arg)
n.508C>G
c.82C>G
c.164C>G (p.Thr55Arg)
c.305C>G (p.Thr102Arg)
n.962C>G
c.353C>G (p.Thr118Arg)
10g.26723870C>TCA5446995PDSS1c.674C>T (p.Thr225Ile)
n.508C>T
c.82C>T
c.164C>T (p.Thr55Ile)
c.305C>T (p.Thr102Ile)
n.962C>T
c.353C>T (p.Thr118Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.26723871A>CCA468482780PDSS1c.675A>C (p.Thr225=)
n.509A>C
c.83A>C
c.165A>C (p.Thr55=)
c.306A>C (p.Thr102=)
n.963A>C
c.354A>C (p.Thr118=)
10g.26723871A>GCA468482781PDSS1c.675A>G (p.Thr225=)
n.509A>G
c.83A>G
c.165A>G (p.Thr55=)
c.306A>G (p.Thr102=)
n.963A>G
c.354A>G (p.Thr118=)
10g.26723871A>TCA468482782PDSS1c.675A>T (p.Thr225=)
n.509A>T
c.83A>T
c.165A>T (p.Thr55=)
c.306A>T (p.Thr102=)
n.963A>T
c.354A>T (p.Thr118=)
10g.26723872A>CCA376348223PDSS1c.676A>C (p.Thr226Pro)
n.510A>C
c.84A>C
c.166A>C (p.Thr56Pro)
c.307A>C (p.Thr103Pro)
n.964A>C
c.355A>C (p.Thr119Pro)
10g.26723872A>GCA376348225PDSS1c.676A>G (p.Thr226Ala)
n.510A>G
c.84A>G
c.166A>G (p.Thr56Ala)
c.307A>G (p.Thr103Ala)
n.964A>G
c.355A>G (p.Thr119Ala)
10g.26723872A>TCA376348226PDSS1c.676A>T (p.Thr226Ser)
n.510A>T
c.84A>T
c.166A>T (p.Thr56Ser)
c.307A>T (p.Thr103Ser)
n.964A>T
c.355A>T (p.Thr119Ser)
10g.26723873C>ACA376348228PDSS1c.677C>A (p.Thr226Asn)
n.511C>A
c.85C>A
c.167C>A (p.Thr56Asn)
c.308C>A (p.Thr103Asn)
n.965C>A
c.356C>A (p.Thr119Asn)
10g.26723873C>GCA376348229PDSS1c.677C>G (p.Thr226Ser)
n.511C>G
c.85C>G
c.167C>G (p.Thr56Ser)
c.308C>G (p.Thr103Ser)
n.965C>G
c.356C>G (p.Thr119Ser)
 gnomAD v4
10g.26723873C>TCA376348231PDSS1c.677C>T (p.Thr226Ile)
n.511C>T
c.85C>T
c.167C>T (p.Thr56Ile)
c.308C>T (p.Thr103Ile)
n.965C>T
c.356C>T (p.Thr119Ile)
10g.26723874T>ACA468482783PDSS1c.678T>A (p.Thr226=)
n.512T>A
c.86T>A
c.168T>A (p.Thr56=)
c.309T>A (p.Thr103=)
n.966T>A
c.357T>A (p.Thr119=)
10g.26723874T>CCA468482784PDSS1c.678T>C (p.Thr226=)
n.512T>C
c.86T>C
c.168T>C (p.Thr56=)
c.309T>C (p.Thr103=)
n.966T>C
c.357T>C (p.Thr119=)
 ClinVar
10g.26723874T>GCA468482785PDSS1c.678T>G (p.Thr226=)
n.512T>G
c.86T>G
c.168T>G (p.Thr56=)
c.309T>G (p.Thr103=)
n.966T>G
c.357T>G (p.Thr119=)
 ClinVar dbSNP
10g.26723874T=CA1898160440PDSS1c.678T= (p.Thr226=)
n.512T=
c.86T=
c.168T= (p.Thr56=)
c.309T= (p.Thr103=)
n.966T=
c.357T= (p.Thr119=)
10g.26723875G>ACA376348233PDSS1c.679G>A (p.Val227Ile)
n.513G>A
c.87G>A
c.169G>A (p.Val57Ile)
c.310G>A (p.Val104Ile)
n.967G>A
c.358G>A (p.Val120Ile)
10g.26723875G>CCA376348235PDSS1c.679G>C (p.Val227Leu)
n.513G>C
c.87G>C
c.169G>C (p.Val57Leu)
c.310G>C (p.Val104Leu)
n.967G>C
c.358G>C (p.Val120Leu)
 gnomAD v4
10g.26723875G>TCA376348237PDSS1c.679G>T (p.Val227Phe)
n.513G>T
c.87G>T
c.169G>T (p.Val57Phe)
c.310G>T (p.Val104Phe)
n.967G>T
c.358G>T (p.Val120Phe)
10g.26723876T>ACA376348238PDSS1c.680T>A (p.Val227Asp)
n.514T>A
c.88T>A
c.170T>A (p.Val57Asp)
c.311T>A (p.Val104Asp)
n.968T>A
c.359T>A (p.Val120Asp)
10g.26723876T>CCA376348240PDSS1c.680T>C (p.Val227Ala)
n.514T>C
c.88T>C
c.170T>C (p.Val57Ala)
c.311T>C (p.Val104Ala)
n.968T>C
c.359T>C (p.Val120Ala)
10g.26723876T>GCA376348241PDSS1c.680T>G (p.Val227Gly)
n.514T>G
c.88T>G
c.170T>G (p.Val57Gly)
c.311T>G (p.Val104Gly)
n.968T>G
c.359T>G (p.Val120Gly)
10g.26723877T>ACA468482786PDSS1c.681T>A (p.Val227=)
n.515T>A
c.89T>A
c.171T>A (p.Val57=)
c.312T>A (p.Val104=)
n.969T>A
c.360T>A (p.Val120=)
10g.26723877T>CCA468482787PDSS1c.681T>C (p.Val227=)
n.515T>C
c.89T>C
c.171T>C (p.Val57=)
c.312T>C (p.Val104=)
n.969T>C
c.360T>C (p.Val120=)
10g.26723877T>GCA468482788PDSS1c.681T>G (p.Val227=)
n.515T>G
c.89T>G
c.171T>G (p.Val57=)
c.312T>G (p.Val104=)
n.969T>G
c.360T>G (p.Val120=)
10g.26723878A=CA1898160447PDSS1c.682A= (p.Ile228=)
n.516A=
c.90A=
c.172A= (p.Ile58=)
c.313A= (p.Ile105=)
n.970A=
c.361A= (p.Ile121=)
10g.26723878A>CCA376348245PDSS1c.682A>C (p.Ile228Leu)
n.516A>C
c.90A>C
c.172A>C (p.Ile58Leu)
c.313A>C (p.Ile105Leu)
n.970A>C
c.361A>C (p.Ile121Leu)
10g.26723878A>GCA5446996PDSS1c.682A>G (p.Ile228Val)
n.516A>G
c.90A>G
c.172A>G (p.Ile58Val)
c.313A>G (p.Ile105Val)
n.970A>G
c.361A>G (p.Ile121Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.26723878A>TCA376348246PDSS1c.682A>T (p.Ile228Leu)
n.516A>T
c.90A>T
c.172A>T (p.Ile58Leu)
c.313A>T (p.Ile105Leu)
n.970A>T
c.361A>T (p.Ile121Leu)

Number of alleles fetched