Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.107210394C= | CA1653786318 | PDSS2 | c.1008+45G= (n.1008+45G=) c.183+45G= (n.183+45G=) c.876+1715G= (n.876+1715G=) c.873+45G= (n.873+45G=) c.600+45G= (n.600+45G=) c.703-16540G= (n.703-16540G=) | |
6 | g.107210394C>T | CA3945956 | PDSS2 | c.1008+45G>A (n.1008+45G>A) c.183+45G>A (n.183+45G>A) c.876+1715G>A (n.876+1715G>A) c.873+45G>A (n.873+45G>A) c.600+45G>A (n.600+45G>A) c.703-16540G>A (n.703-16540G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107210395A= | CA1653786319 | PDSS2 | c.1008+44T= (n.1008+44T=) c.183+44T= (n.183+44T=) c.876+1714T= (n.876+1714T=) c.873+44T= (n.873+44T=) c.600+44T= (n.600+44T=) c.703-16541T= (n.703-16541T=) | |
6 | g.107210395A>G | CA3945957 | PDSS2 | c.1008+44T>C (n.1008+44T>C) c.183+44T>C (n.183+44T>C) c.876+1714T>C (n.876+1714T>C) c.873+44T>C (n.873+44T>C) c.600+44T>C (n.600+44T>C) c.703-16541T>C (n.703-16541T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107210397T>A | CA2578705071 | PDSS2 | c.1008+42A>T (n.1008+42A>T) c.183+42A>T (n.183+42A>T) c.876+1712A>T (n.876+1712A>T) c.873+42A>T (n.873+42A>T) c.600+42A>T (n.600+42A>T) c.703-16543A>T (n.703-16543A>T) | |
6 | g.107210397T>C | CA2679872450 | PDSS2 | c.1008+42A>G (n.1008+42A>G) c.183+42A>G (n.183+42A>G) c.876+1712A>G (n.876+1712A>G) c.873+42A>G (n.873+42A>G) c.600+42A>G (n.600+42A>G) c.703-16543A>G (n.703-16543A>G) | gnomAD v4 |
6 | g.107210398A>G | CA2679872451 | PDSS2 | c.1008+41T>C (n.1008+41T>C) c.183+41T>C (n.183+41T>C) c.876+1711T>C (n.876+1711T>C) c.873+41T>C (n.873+41T>C) c.600+41T>C (n.600+41T>C) c.703-16544T>C (n.703-16544T>C) | gnomAD v4 |
6 | g.107210401T>C | CA451563316 | PDSS2 | c.1008+38A>G (n.1008+38A>G) c.183+38A>G (n.183+38A>G) c.876+1708A>G (n.876+1708A>G) c.873+38A>G (n.873+38A>G) c.600+38A>G (n.600+38A>G) c.703-16547A>G (n.703-16547A>G) | gnomAD v4 |
6 | g.107210402A>G | CA2679872452 | PDSS2 | c.1008+37T>C (n.1008+37T>C) c.183+37T>C (n.183+37T>C) c.876+1707T>C (n.876+1707T>C) c.873+37T>C (n.873+37T>C) c.600+37T>C (n.600+37T>C) c.703-16548T>C (n.703-16548T>C) | gnomAD v4 |
6 | g.107210402A>T | CA2578705072 | PDSS2 | c.1008+37T>A (n.1008+37T>A) c.183+37T>A (n.183+37T>A) c.876+1707T>A (n.876+1707T>A) c.873+37T>A (n.873+37T>A) c.600+37T>A (n.600+37T>A) c.703-16548T>A (n.703-16548T>A) | |
6 | g.107210403C= | CA1653786320 | PDSS2 | c.1008+36G= (n.1008+36G=) c.183+36G= (n.183+36G=) c.876+1706G= (n.876+1706G=) c.873+36G= (n.873+36G=) c.600+36G= (n.600+36G=) c.703-16549G= (n.703-16549G=) | |
6 | g.107210403C>G | CA3945958 | PDSS2 | c.1008+36G>C (n.1008+36G>C) c.183+36G>C (n.183+36G>C) c.876+1706G>C (n.876+1706G>C) c.873+36G>C (n.873+36G>C) c.600+36G>C (n.600+36G>C) c.703-16549G>C (n.703-16549G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210404T>C | CA2679872453 | PDSS2 | c.1008+35A>G (n.1008+35A>G) c.183+35A>G (n.183+35A>G) c.876+1705A>G (n.876+1705A>G) c.873+35A>G (n.873+35A>G) c.600+35A>G (n.600+35A>G) c.703-16550A>G (n.703-16550A>G) | gnomAD v4 |
6 | g.107210405A>G | CA2679872454 | PDSS2 | c.1008+34T>C (n.1008+34T>C) c.183+34T>C (n.183+34T>C) c.876+1704T>C (n.876+1704T>C) c.873+34T>C (n.873+34T>C) c.600+34T>C (n.600+34T>C) c.703-16551T>C (n.703-16551T>C) | gnomAD v4 |
6 | g.107210405A>T | CA2679872455 | PDSS2 | c.1008+34T>A (n.1008+34T>A) c.183+34T>A (n.183+34T>A) c.876+1704T>A (n.876+1704T>A) c.873+34T>A (n.873+34T>A) c.600+34T>A (n.600+34T>A) c.703-16551T>A (n.703-16551T>A) | gnomAD v4 |
6 | g.107210406C>A | CA2578705073 | PDSS2 | c.1008+33G>T (n.1008+33G>T) c.183+33G>T (n.183+33G>T) c.876+1703G>T (n.876+1703G>T) c.873+33G>T (n.873+33G>T) c.600+33G>T (n.600+33G>T) c.703-16552G>T (n.703-16552G>T) | gnomAD v4 |
6 | g.107210407T>C | CA2679872456 | PDSS2 | c.1008+32A>G (n.1008+32A>G) c.183+32A>G (n.183+32A>G) c.876+1702A>G (n.876+1702A>G) c.873+32A>G (n.873+32A>G) c.600+32A>G (n.600+32A>G) c.703-16553A>G (n.703-16553A>G) | gnomAD v4 |
6 | g.107210407T>G | CA1092868588 | PDSS2 | c.1008+32A>C (n.1008+32A>C) c.183+32A>C (n.183+32A>C) c.876+1702A>C (n.876+1702A>C) c.873+32A>C (n.873+32A>C) c.600+32A>C (n.600+32A>C) c.703-16553A>C (n.703-16553A>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107210407T= | CA1653786321 | PDSS2 | c.1008+32A= (n.1008+32A=) c.183+32A= (n.183+32A=) c.876+1702A= (n.876+1702A=) c.873+32A= (n.873+32A=) c.600+32A= (n.600+32A=) c.703-16553A= (n.703-16553A=) | |
6 | g.107210408G>T | CA2679872458 | PDSS2 | c.1008+31C>A (n.1008+31C>A) c.183+31C>A (n.183+31C>A) c.876+1701C>A (n.876+1701C>A) c.873+31C>A (n.873+31C>A) c.600+31C>A (n.600+31C>A) c.703-16554C>A (n.703-16554C>A) | gnomAD v4 |
6 | g.107210409del | CA2679872457 | PDSS2 | c.1008+31del (n.1008+31del) c.183+31del (n.183+31del) c.876+1701del (n.876+1701del) c.873+31del (n.873+31del) c.600+31del (n.600+31del) c.703-16554del (n.703-16554del) | gnomAD v4 |
6 | g.107210409G>A | CA2679872460 | PDSS2 | c.1008+30C>T (n.1008+30C>T) c.183+30C>T (n.183+30C>T) c.876+1700C>T (n.876+1700C>T) c.873+30C>T (n.873+30C>T) c.600+30C>T (n.600+30C>T) c.703-16555C>T (n.703-16555C>T) | gnomAD v4 |
6 | g.107210409G>C | CA2679872459 | PDSS2 | c.1008+30C>G (n.1008+30C>G) c.183+30C>G (n.183+30C>G) c.876+1700C>G (n.876+1700C>G) c.873+30C>G (n.873+30C>G) c.600+30C>G (n.600+30C>G) c.703-16555C>G (n.703-16555C>G) | gnomAD v4 |
6 | g.107210409G= | CA1653786322 | PDSS2 | c.1008+30C= (n.1008+30C=) c.183+30C= (n.183+30C=) c.876+1700C= (n.876+1700C=) c.873+30C= (n.873+30C=) c.600+30C= (n.600+30C=) c.703-16555C= (n.703-16555C=) | |
6 | g.107210409G>T | CA1653786323 | PDSS2 | c.1008+30C>A (n.1008+30C>A) c.183+30C>A (n.183+30C>A) c.876+1700C>A (n.876+1700C>A) c.873+30C>A (n.873+30C>A) c.600+30C>A (n.600+30C>A) c.703-16555C>A (n.703-16555C>A) | dbSNP gnomAD v4 |
6 | g.107210410T>A | CA3945960 | PDSS2 | c.1008+29A>T (n.1008+29A>T) c.183+29A>T (n.183+29A>T) c.876+1699A>T (n.876+1699A>T) c.873+29A>T (n.873+29A>T) c.600+29A>T (n.600+29A>T) c.703-16556A>T (n.703-16556A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107210410T>C | CA3945959 | PDSS2 | c.1008+29A>G (n.1008+29A>G) c.183+29A>G (n.183+29A>G) c.876+1699A>G (n.876+1699A>G) c.873+29A>G (n.873+29A>G) c.600+29A>G (n.600+29A>G) c.703-16556A>G (n.703-16556A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107210410T= | CA1653786324 | PDSS2 | c.1008+29A= (n.1008+29A=) c.183+29A= (n.183+29A=) c.876+1699A= (n.876+1699A=) c.873+29A= (n.873+29A=) c.600+29A= (n.600+29A=) c.703-16556A= (n.703-16556A=) | |
6 | g.107210411A>G | CA2679872461 | PDSS2 | c.1008+28T>C (n.1008+28T>C) c.183+28T>C (n.183+28T>C) c.876+1698T>C (n.876+1698T>C) c.873+28T>C (n.873+28T>C) c.600+28T>C (n.600+28T>C) c.703-16557T>C (n.703-16557T>C) | gnomAD v4 |
6 | g.107210412C>A | CA2578705074 | PDSS2 | c.1008+27G>T (n.1008+27G>T) c.183+27G>T (n.183+27G>T) c.876+1697G>T (n.876+1697G>T) c.873+27G>T (n.873+27G>T) c.600+27G>T (n.600+27G>T) c.703-16558G>T (n.703-16558G>T) | |
6 | g.107210412C= | CA1653786325 | PDSS2 | c.1008+27G= (n.1008+27G=) c.183+27G= (n.183+27G=) c.876+1697G= (n.876+1697G=) c.873+27G= (n.873+27G=) c.600+27G= (n.600+27G=) c.703-16558G= (n.703-16558G=) | |
6 | g.107210412C>T | CA3945961 | PDSS2 | c.1008+27G>A (n.1008+27G>A) c.183+27G>A (n.183+27G>A) c.876+1697G>A (n.876+1697G>A) c.873+27G>A (n.873+27G>A) c.600+27G>A (n.600+27G>A) c.703-16558G>A (n.703-16558G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210413C>A | CA2679872462 | PDSS2 | c.1008+26G>T (n.1008+26G>T) c.183+26G>T (n.183+26G>T) c.876+1696G>T (n.876+1696G>T) c.873+26G>T (n.873+26G>T) c.600+26G>T (n.600+26G>T) c.703-16559G>T (n.703-16559G>T) | gnomAD v4 |
6 | g.107210413C= | CA1653786326 | PDSS2 | c.1008+26G= (n.1008+26G=) c.183+26G= (n.183+26G=) c.876+1696G= (n.876+1696G=) c.873+26G= (n.873+26G=) c.600+26G= (n.600+26G=) c.703-16559G= (n.703-16559G=) | |
6 | g.107210413C>T | CA569502016 | PDSS2 | c.1008+26G>A (n.1008+26G>A) c.183+26G>A (n.183+26G>A) c.876+1696G>A (n.876+1696G>A) c.873+26G>A (n.873+26G>A) c.600+26G>A (n.600+26G>A) c.703-16559G>A (n.703-16559G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.107210414T>C | CA2679872463 | PDSS2 | c.1008+25A>G (n.1008+25A>G) c.183+25A>G (n.183+25A>G) c.876+1695A>G (n.876+1695A>G) c.873+25A>G (n.873+25A>G) c.600+25A>G (n.600+25A>G) c.703-16560A>G (n.703-16560A>G) | gnomAD v4 |
6 | g.107210415A>G | CA2679872464 | PDSS2 | c.1008+24T>C (n.1008+24T>C) c.183+24T>C (n.183+24T>C) c.876+1694T>C (n.876+1694T>C) c.873+24T>C (n.873+24T>C) c.600+24T>C (n.600+24T>C) c.703-16561T>C (n.703-16561T>C) | gnomAD v4 |
6 | g.107210418del | CA2578705075 | PDSS2 | c.1008+24del (n.1008+24del) c.183+24del (n.183+24del) c.876+1694del (n.876+1694del) c.873+24del (n.873+24del) c.600+24del (n.600+24del) c.703-16561del (n.703-16561del) | |
6 | g.107210418A>G | CA2679872465 | PDSS2 | c.1008+21T>C (n.1008+21T>C) c.183+21T>C (n.183+21T>C) c.876+1691T>C (n.876+1691T>C) c.873+21T>C (n.873+21T>C) c.600+21T>C (n.600+21T>C) c.703-16564T>C (n.703-16564T>C) | gnomAD v4 |
6 | g.107210419C= | CA1653786327 | PDSS2 | c.1008+20G= (n.1008+20G=) c.183+20G= (n.183+20G=) c.876+1690G= (n.876+1690G=) c.873+20G= (n.873+20G=) c.600+20G= (n.600+20G=) c.703-16565G= (n.703-16565G=) | |
6 | g.107210419C>T | CA569502017 | PDSS2 | c.1008+20G>A (n.1008+20G>A) c.183+20G>A (n.183+20G>A) c.876+1690G>A (n.876+1690G>A) c.873+20G>A (n.873+20G>A) c.600+20G>A (n.600+20G>A) c.703-16565G>A (n.703-16565G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.107210420A>G | CA2679872466 | PDSS2 | c.1008+19T>C (n.1008+19T>C) c.183+19T>C (n.183+19T>C) c.876+1689T>C (n.876+1689T>C) c.873+19T>C (n.873+19T>C) c.600+19T>C (n.600+19T>C) c.703-16566T>C (n.703-16566T>C) | gnomAD v4 |
6 | g.107210421G>A | CA2679872467 | PDSS2 | c.1008+18C>T (n.1008+18C>T) c.183+18C>T (n.183+18C>T) c.876+1688C>T (n.876+1688C>T) c.873+18C>T (n.873+18C>T) c.600+18C>T (n.600+18C>T) c.703-16567C>T (n.703-16567C>T) | gnomAD v4 |
6 | g.107210421G>T | CA2679872468 | PDSS2 | c.1008+18C>A (n.1008+18C>A) c.183+18C>A (n.183+18C>A) c.876+1688C>A (n.876+1688C>A) c.873+18C>A (n.873+18C>A) c.600+18C>A (n.600+18C>A) c.703-16567C>A (n.703-16567C>A) | gnomAD v4 |
6 | g.107210422G>A | CA3945962 | PDSS2 | c.1008+17C>T (n.1008+17C>T) c.183+17C>T (n.183+17C>T) c.876+1687C>T (n.876+1687C>T) c.873+17C>T (n.873+17C>T) c.600+17C>T (n.600+17C>T) c.703-16568C>T (n.703-16568C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210422G>C | CA816858871 | PDSS2 | c.1008+17C>G (n.1008+17C>G) c.183+17C>G (n.183+17C>G) c.876+1687C>G (n.876+1687C>G) c.873+17C>G (n.873+17C>G) c.600+17C>G (n.600+17C>G) c.703-16568C>G (n.703-16568C>G) | dbSNP |
6 | g.107210422G= | CA1653786328 | PDSS2 | c.1008+17C= (n.1008+17C=) c.183+17C= (n.183+17C=) c.876+1687C= (n.876+1687C=) c.873+17C= (n.873+17C=) c.600+17C= (n.600+17C=) c.703-16568C= (n.703-16568C=) | |
6 | g.107210422G>T | CA2679872469 | PDSS2 | c.1008+17C>A (n.1008+17C>A) c.183+17C>A (n.183+17C>A) c.876+1687C>A (n.876+1687C>A) c.873+17C>A (n.873+17C>A) c.600+17C>A (n.600+17C>A) c.703-16568C>A (n.703-16568C>A) | gnomAD v4 |
6 | g.107210423A= | CA1653786329 | PDSS2 | c.1008+16T= (n.1008+16T=) c.183+16T= (n.183+16T=) c.876+1686T= (n.876+1686T=) c.873+16T= (n.873+16T=) c.600+16T= (n.600+16T=) c.703-16569T= (n.703-16569T=) | |
6 | g.107210423A>C | CA2679872470 | PDSS2 | c.1008+16T>G (n.1008+16T>G) c.183+16T>G (n.183+16T>G) c.876+1686T>G (n.876+1686T>G) c.873+16T>G (n.873+16T>G) c.600+16T>G (n.600+16T>G) c.703-16569T>G (n.703-16569T>G) | gnomAD v4 |
6 | g.107210423A>G | CA816858876 | PDSS2 | c.1008+16T>C (n.1008+16T>C) c.183+16T>C (n.183+16T>C) c.876+1686T>C (n.876+1686T>C) c.873+16T>C (n.873+16T>C) c.600+16T>C (n.600+16T>C) c.703-16569T>C (n.703-16569T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107210423A>T | CA2679872471 | PDSS2 | c.1008+16T>A (n.1008+16T>A) c.183+16T>A (n.183+16T>A) c.876+1686T>A (n.876+1686T>A) c.873+16T>A (n.873+16T>A) c.600+16T>A (n.600+16T>A) c.703-16569T>A (n.703-16569T>A) | gnomAD v4 |
6 | g.107210424G>A | CA569502021 | PDSS2 | c.1008+15C>T (n.1008+15C>T) c.183+15C>T (n.183+15C>T) c.876+1685C>T (n.876+1685C>T) c.873+15C>T (n.873+15C>T) c.600+15C>T (n.600+15C>T) c.703-16570C>T (n.703-16570C>T) | dbSNP gnomAD v2 |
6 | g.107210424G>C | CA3945963 | PDSS2 | c.1008+15C>G (n.1008+15C>G) c.183+15C>G (n.183+15C>G) c.876+1685C>G (n.876+1685C>G) c.873+15C>G (n.873+15C>G) c.600+15C>G (n.600+15C>G) c.703-16570C>G (n.703-16570C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210424G= | CA1653786330 | PDSS2 | c.1008+15C= (n.1008+15C=) c.183+15C= (n.183+15C=) c.876+1685C= (n.876+1685C=) c.873+15C= (n.873+15C=) c.600+15C= (n.600+15C=) c.703-16570C= (n.703-16570C=) | |
6 | g.107210424G>T | CA2679872472 | PDSS2 | c.1008+15C>A (n.1008+15C>A) c.183+15C>A (n.183+15C>A) c.876+1685C>A (n.876+1685C>A) c.873+15C>A (n.873+15C>A) c.600+15C>A (n.600+15C>A) c.703-16570C>A (n.703-16570C>A) | gnomAD v4 |
6 | g.107210425T>C | CA816858921 | PDSS2 | c.1008+14A>G (n.1008+14A>G) c.183+14A>G (n.183+14A>G) c.876+1684A>G (n.876+1684A>G) c.873+14A>G (n.873+14A>G) c.600+14A>G (n.600+14A>G) c.703-16571A>G (n.703-16571A>G) | dbSNP |
6 | g.107210425T= | CA1653786331 | PDSS2 | c.1008+14A= (n.1008+14A=) c.183+14A= (n.183+14A=) c.876+1684A= (n.876+1684A=) c.873+14A= (n.873+14A=) c.600+14A= (n.600+14A=) c.703-16571A= (n.703-16571A=) | |
6 | g.107210426A>T | CA2679872473 | PDSS2 | c.1008+13T>A (n.1008+13T>A) c.183+13T>A (n.183+13T>A) c.876+1683T>A (n.876+1683T>A) c.873+13T>A (n.873+13T>A) c.600+13T>A (n.600+13T>A) c.703-16572T>A (n.703-16572T>A) | gnomAD v4 |
6 | g.107210433T>C | CA2679872475 | PDSS2 | c.1008+6A>G (n.1008+6A>G) c.183+6A>G (n.183+6A>G) c.876+1676A>G (n.876+1676A>G) c.873+6A>G (n.873+6A>G) c.600+6A>G (n.600+6A>G) c.703-16579A>G (n.703-16579A>G) | gnomAD v4 |
6 | g.107210436del | CA2679872474 | PDSS2 | c.1008+6del (n.1008+6del) c.183+6del (n.183+6del) c.876+1676del (n.876+1676del) c.873+6del (n.873+6del) c.600+6del (n.600+6del) c.703-16579del (n.703-16579del) | gnomAD v4 |
6 | g.107210434T>C | CA1092868604 | PDSS2 | c.1008+5A>G (n.1008+5A>G) c.183+5A>G (n.183+5A>G) c.876+1675A>G (n.876+1675A>G) c.873+5A>G (n.873+5A>G) c.600+5A>G (n.600+5A>G) c.703-16580A>G (n.703-16580A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107210434T= | CA1653786332 | PDSS2 | c.1008+5A= (n.1008+5A=) c.183+5A= (n.183+5A=) c.876+1675A= (n.876+1675A=) c.873+5A= (n.873+5A=) c.600+5A= (n.600+5A=) c.703-16580A= (n.703-16580A=) | |
6 | g.107210436T>A | CA2679872476 | PDSS2 | c.1008+3A>T (n.1008+3A>T) c.183+3A>T (n.183+3A>T) c.876+1673A>T (n.876+1673A>T) c.873+3A>T (n.873+3A>T) c.600+3A>T (n.600+3A>T) c.703-16582A>T (n.703-16582A>T) | gnomAD v4 |
6 | g.107210436T>C | CA2679872477 | PDSS2 | c.1008+3A>G (n.1008+3A>G) c.183+3A>G (n.183+3A>G) c.876+1673A>G (n.876+1673A>G) c.873+3A>G (n.873+3A>G) c.600+3A>G (n.600+3A>G) c.703-16582A>G (n.703-16582A>G) | gnomAD v4 |
6 | g.107210437A>C | CA365322411 | PDSS2 | c.1008+2T>G (n.1008+2T>G) c.183+2T>G (n.183+2T>G) c.876+1672T>G (n.876+1672T>G) c.873+2T>G (n.873+2T>G) c.600+2T>G (n.600+2T>G) c.703-16583T>G (n.703-16583T>G) | |
6 | g.107210437A>G | CA365322412 | PDSS2 | c.1008+2T>C (n.1008+2T>C) c.183+2T>C (n.183+2T>C) c.876+1672T>C (n.876+1672T>C) c.873+2T>C (n.873+2T>C) c.600+2T>C (n.600+2T>C) c.703-16583T>C (n.703-16583T>C) | gnomAD v4 |
6 | g.107210437A>T | CA365322413 | PDSS2 | c.1008+2T>A (n.1008+2T>A) c.183+2T>A (n.183+2T>A) c.876+1672T>A (n.876+1672T>A) c.873+2T>A (n.873+2T>A) c.600+2T>A (n.600+2T>A) c.703-16583T>A (n.703-16583T>A) | |
6 | g.107210438C>A | CA3945964 | PDSS2 | c.1008+1G>T (n.1008+1G>T) c.183+1G>T (n.183+1G>T) c.876+1671G>T (n.876+1671G>T) c.873+1G>T (n.873+1G>T) c.600+1G>T (n.600+1G>T) c.703-16584G>T (n.703-16584G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210438C= | CA1653786333 | PDSS2 | c.1008+1G= (n.1008+1G=) c.183+1G= (n.183+1G=) c.876+1671G= (n.876+1671G=) c.873+1G= (n.873+1G=) c.600+1G= (n.600+1G=) c.703-16584G= (n.703-16584G=) | |
6 | g.107210438C>G | CA365322414 | PDSS2 | c.1008+1G>C (n.1008+1G>C) c.183+1G>C (n.183+1G>C) c.876+1671G>C (n.876+1671G>C) c.873+1G>C (n.873+1G>C) c.600+1G>C (n.600+1G>C) c.703-16584G>C (n.703-16584G>C) | |
6 | g.107210438C>T | CA365322415 | PDSS2 | c.1008+1G>A (n.1008+1G>A) c.183+1G>A (n.183+1G>A) c.876+1671G>A (n.876+1671G>A) c.873+1G>A (n.873+1G>A) c.600+1G>A (n.600+1G>A) c.703-16584G>A (n.703-16584G>A) | gnomAD v4 |
6 | g.107210439C>A | CA365322416 | PDSS2 | c.1008G>T (p.Glu336Asp) c.183G>T (p.Glu61Asp) c.876+1670G>T (n.876+1670G>T) c.873G>T (p.Glu291Asp) c.600G>T (p.Glu200Asp) c.703-16585G>T (n.703-16585G>T) | gnomAD v4 |
6 | g.107210439C= | CA1653786334 | PDSS2 | c.1008G= (p.Glu336=) c.183G= (p.Glu61=) c.876+1670G= (n.876+1670G=) c.873G= (p.Glu291=) c.600G= (p.Glu200=) c.703-16585G= (n.703-16585G=) | |
6 | g.107210439C>G | CA365322417 | PDSS2 | c.1008G>C (p.Glu336Asp) c.183G>C (p.Glu61Asp) c.876+1670G>C (n.876+1670G>C) c.873G>C (p.Glu291Asp) c.600G>C (p.Glu200Asp) c.703-16585G>C (n.703-16585G>C) | gnomAD v4 |
6 | g.107210439C>T | CA451563317 | PDSS2 | c.1008G>A (p.Glu336=) c.183G>A (p.Glu61=) c.876+1670G>A (n.876+1670G>A) c.873G>A (p.Glu291=) c.600G>A (p.Glu200=) c.703-16585G>A (n.703-16585G>A) | dbSNP gnomAD v4 |
6 | g.107210440T>A | CA365322418 | PDSS2 | c.1007A>T (p.Glu336Val) c.182A>T (p.Glu61Val) c.876+1669A>T (n.876+1669A>T) c.872A>T (p.Glu291Val) c.599A>T (p.Glu200Val) c.703-16586A>T (n.703-16586A>T) | |
6 | g.107210440T>C | CA365322419 | PDSS2 | c.1007A>G (p.Glu336Gly) c.182A>G (p.Glu61Gly) c.876+1669A>G (n.876+1669A>G) c.872A>G (p.Glu291Gly) c.599A>G (p.Glu200Gly) c.703-16586A>G (n.703-16586A>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.107210440T>G | CA365322420 | PDSS2 | c.1007A>C (p.Glu336Ala) c.182A>C (p.Glu61Ala) c.876+1669A>C (n.876+1669A>C) c.872A>C (p.Glu291Ala) c.599A>C (p.Glu200Ala) c.703-16586A>C (n.703-16586A>C) | |
6 | g.107210440T= | CA1653786335 | PDSS2 | c.1007A= (p.Glu336=) c.182A= (p.Glu61=) c.876+1669A= (n.876+1669A=) c.872A= (p.Glu291=) c.599A= (p.Glu200=) c.703-16586A= (n.703-16586A=) | |
6 | g.107210441C>A | CA365322421 | PDSS2 | c.1006G>T (p.Glu336Ter) c.181G>T (p.Glu61Ter) c.876+1668G>T (n.876+1668G>T) c.871G>T (p.Glu291Ter) c.598G>T (p.Glu200Ter) c.703-16587G>T (n.703-16587G>T) | gnomAD v4 |
6 | g.107210441C= | CA1653786336 | PDSS2 | c.1006G= (p.Glu336=) c.181G= (p.Glu61=) c.876+1668G= (n.876+1668G=) c.871G= (p.Glu291=) c.598G= (p.Glu200=) c.703-16587G= (n.703-16587G=) | |
6 | g.107210441C>G | CA365322422 | PDSS2 | c.1006G>C (p.Glu336Gln) c.181G>C (p.Glu61Gln) c.876+1668G>C (n.876+1668G>C) c.871G>C (p.Glu291Gln) c.598G>C (p.Glu200Gln) c.703-16587G>C (n.703-16587G>C) | |
6 | g.107210441C>T | CA3945965 | PDSS2 | c.1006G>A (p.Glu336Lys) c.181G>A (p.Glu61Lys) c.876+1668G>A (n.876+1668G>A) c.871G>A (p.Glu291Lys) c.598G>A (p.Glu200Lys) c.703-16587G>A (n.703-16587G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210442T>A | CA451563318 | PDSS2 | c.1005A>T (p.Gly335=) c.180A>T (p.Gly60=) c.876+1667A>T (n.876+1667A>T) c.870A>T (p.Gly290=) c.597A>T (p.Gly199=) c.703-16588A>T (n.703-16588A>T) | |
6 | g.107210442T>C | CA3945966 | PDSS2 | c.1005A>G (p.Gly335=) c.180A>G (p.Gly60=) c.876+1667A>G (n.876+1667A>G) c.870A>G (p.Gly290=) c.597A>G (p.Gly199=) c.703-16588A>G (n.703-16588A>G) | dbSNP ExAC gnomAD v2 |
6 | g.107210442T>G | CA451563319 | PDSS2 | c.1005A>C (p.Gly335=) c.180A>C (p.Gly60=) c.876+1667A>C (n.876+1667A>C) c.870A>C (p.Gly290=) c.597A>C (p.Gly199=) c.703-16588A>C (n.703-16588A>C) | |
6 | g.107210442T= | CA1653786337 | PDSS2 | c.1005A= (p.Gly335=) c.180A= (p.Gly60=) c.876+1667A= (n.876+1667A=) c.870A= (p.Gly290=) c.597A= (p.Gly199=) c.703-16588A= (n.703-16588A=) | |
6 | g.107210443C>A | CA365322423 | PDSS2 | c.1004G>T (p.Gly335Val) c.179G>T (p.Gly60Val) c.876+1666G>T (n.876+1666G>T) c.869G>T (p.Gly290Val) c.596G>T (p.Gly199Val) c.703-16589G>T (n.703-16589G>T) | |
6 | g.107210443C>G | CA365322424 | PDSS2 | c.1004G>C (p.Gly335Ala) c.179G>C (p.Gly60Ala) c.876+1666G>C (n.876+1666G>C) c.869G>C (p.Gly290Ala) c.596G>C (p.Gly199Ala) c.703-16589G>C (n.703-16589G>C) | |
6 | g.107210443C>T | CA365322425 | PDSS2 | c.1004G>A (p.Gly335Glu) c.179G>A (p.Gly60Glu) c.876+1666G>A (n.876+1666G>A) c.869G>A (p.Gly290Glu) c.596G>A (p.Gly199Glu) c.703-16589G>A (n.703-16589G>A) | |
6 | g.107210444C>A | CA365322426 | PDSS2 | c.1003G>T (p.Gly335Ter) c.178G>T (p.Gly60Ter) c.876+1665G>T (n.876+1665G>T) c.868G>T (p.Gly290Ter) c.595G>T (p.Gly199Ter) c.703-16590G>T (n.703-16590G>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.107210444C= | CA1653786338 | PDSS2 | c.1003G= (p.Gly335=) c.178G= (p.Gly60=) c.876+1665G= (n.876+1665G=) c.868G= (p.Gly290=) c.595G= (p.Gly199=) c.703-16590G= (n.703-16590G=) | |
6 | g.107210444C>G | CA365322427 | PDSS2 | c.1003G>C (p.Gly335Arg) c.178G>C (p.Gly60Arg) c.876+1665G>C (n.876+1665G>C) c.868G>C (p.Gly290Arg) c.595G>C (p.Gly199Arg) c.703-16590G>C (n.703-16590G>C) | dbSNP |
6 | g.107210444C>T | CA3945967 | PDSS2 | c.1003G>A (p.Gly335Arg) c.178G>A (p.Gly60Arg) c.876+1665G>A (n.876+1665G>A) c.868G>A (p.Gly290Arg) c.595G>A (p.Gly199Arg) c.703-16590G>A (n.703-16590G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210445G>A | CA3945968 | PDSS2 | c.1002C>T (p.Ile334=) c.177C>T (p.Ile59=) c.876+1664C>T (n.876+1664C>T) c.867C>T (p.Ile289=) c.594C>T (p.Ile198=) c.703-16591C>T (n.703-16591C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210445G>C | CA365322428 | PDSS2 | c.1002C>G (p.Ile334Met) c.177C>G (p.Ile59Met) c.876+1664C>G (n.876+1664C>G) c.867C>G (p.Ile289Met) c.594C>G (p.Ile198Met) c.703-16591C>G (n.703-16591C>G) | dbSNP |
6 | g.107210445G= | CA1653786339 | PDSS2 | c.1002C= (p.Ile334=) c.177C= (p.Ile59=) c.876+1664C= (n.876+1664C=) c.867C= (p.Ile289=) c.594C= (p.Ile198=) c.703-16591C= (n.703-16591C=) | |
6 | g.107210445G>T | CA451563320 | PDSS2 | c.1002C>A (p.Ile334=) c.177C>A (p.Ile59=) c.876+1664C>A (n.876+1664C>A) c.867C>A (p.Ile289=) c.594C>A (p.Ile198=) c.703-16591C>A (n.703-16591C>A) | gnomAD v4 |
6 | g.107210446A>C | CA365322429 | PDSS2 | c.1001T>G (p.Ile334Ser) c.176T>G (p.Ile59Ser) c.876+1663T>G (n.876+1663T>G) c.866T>G (p.Ile289Ser) c.593T>G (p.Ile198Ser) c.703-16592T>G (n.703-16592T>G) | |
6 | g.107210446A>G | CA365322430 | PDSS2 | c.1001T>C (p.Ile334Thr) c.176T>C (p.Ile59Thr) c.876+1663T>C (n.876+1663T>C) c.866T>C (p.Ile289Thr) c.593T>C (p.Ile198Thr) c.703-16592T>C (n.703-16592T>C) | |
6 | g.107210446A>T | CA365322431 | PDSS2 | c.1001T>A (p.Ile334Asn) c.176T>A (p.Ile59Asn) c.876+1663T>A (n.876+1663T>A) c.866T>A (p.Ile289Asn) c.593T>A (p.Ile198Asn) c.703-16592T>A (n.703-16592T>A) | gnomAD v4 |
6 | g.107210447T>A | CA365322432 | PDSS2 | c.1000A>T (p.Ile334Phe) c.175A>T (p.Ile59Phe) c.876+1662A>T (n.876+1662A>T) c.865A>T (p.Ile289Phe) c.592A>T (p.Ile198Phe) c.703-16593A>T (n.703-16593A>T) | |
6 | g.107210447T>C | CA365322433 | PDSS2 | c.1000A>G (p.Ile334Val) c.175A>G (p.Ile59Val) c.876+1662A>G (n.876+1662A>G) c.865A>G (p.Ile289Val) c.592A>G (p.Ile198Val) c.703-16593A>G (n.703-16593A>G) | |
6 | g.107210447T>G | CA365322434 | PDSS2 | c.1000A>C (p.Ile334Leu) c.175A>C (p.Ile59Leu) c.876+1662A>C (n.876+1662A>C) c.865A>C (p.Ile289Leu) c.592A>C (p.Ile198Leu) c.703-16593A>C (n.703-16593A>C) | |
6 | g.107210448C>A | CA365322435 | PDSS2 | c.999G>T (p.Gln333His) c.174G>T (p.Gln58His) c.876+1661G>T (n.876+1661G>T) c.864G>T (p.Gln288His) c.591G>T (p.Gln197His) c.703-16594G>T (n.703-16594G>T) | |
6 | g.107210448C>G | CA365322436 | PDSS2 | c.999G>C (p.Gln333His) c.174G>C (p.Gln58His) c.876+1661G>C (n.876+1661G>C) c.864G>C (p.Gln288His) c.591G>C (p.Gln197His) c.703-16594G>C (n.703-16594G>C) | gnomAD v4 |
6 | g.107210448C>T | CA451563321 | PDSS2 | c.999G>A (p.Gln333=) c.174G>A (p.Gln58=) c.876+1661G>A (n.876+1661G>A) c.864G>A (p.Gln288=) c.591G>A (p.Gln197=) c.703-16594G>A (n.703-16594G>A) | |
6 | g.107210449T>A | CA365322437 | PDSS2 | c.998A>T (p.Gln333Leu) c.173A>T (p.Gln58Leu) c.876+1660A>T (n.876+1660A>T) c.863A>T (p.Gln288Leu) c.590A>T (p.Gln197Leu) c.703-16595A>T (n.703-16595A>T) | |
6 | g.107210449T>C | CA365322438 | PDSS2 | c.998A>G (p.Gln333Arg) c.173A>G (p.Gln58Arg) c.876+1660A>G (n.876+1660A>G) c.863A>G (p.Gln288Arg) c.590A>G (p.Gln197Arg) c.703-16595A>G (n.703-16595A>G) | gnomAD v4 |
6 | g.107210449T>G | CA365322439 | PDSS2 | c.998A>C (p.Gln333Pro) c.173A>C (p.Gln58Pro) c.876+1660A>C (n.876+1660A>C) c.863A>C (p.Gln288Pro) c.590A>C (p.Gln197Pro) c.703-16595A>C (n.703-16595A>C) | |
6 | g.107210450G>A | CA365322440 | PDSS2 | c.997C>T (p.Gln333Ter) c.172C>T (p.Gln58Ter) c.876+1659C>T (n.876+1659C>T) c.862C>T (p.Gln288Ter) c.589C>T (p.Gln197Ter) c.703-16596C>T (n.703-16596C>T) | |
6 | g.107210450G>C | CA365322441 | PDSS2 | c.997C>G (p.Gln333Glu) c.172C>G (p.Gln58Glu) c.876+1659C>G (n.876+1659C>G) c.862C>G (p.Gln288Glu) c.589C>G (p.Gln197Glu) c.703-16596C>G (n.703-16596C>G) | |
6 | g.107210450G>T | CA365322442 | PDSS2 | c.997C>A (p.Gln333Lys) c.172C>A (p.Gln58Lys) c.876+1659C>A (n.876+1659C>A) c.862C>A (p.Gln288Lys) c.589C>A (p.Gln197Lys) c.703-16596C>A (n.703-16596C>A) | |
6 | g.107210451T>A | CA365322443 | PDSS2 | c.996A>T (p.Lys332Asn) c.171A>T (p.Lys57Asn) c.876+1658A>T (n.876+1658A>T) c.861A>T (p.Lys287Asn) c.588A>T (p.Lys196Asn) c.703-16597A>T (n.703-16597A>T) | |
6 | g.107210451T>C | CA451563322 | PDSS2 | c.996A>G (p.Lys332=) c.171A>G (p.Lys57=) c.876+1658A>G (n.876+1658A>G) c.861A>G (p.Lys287=) c.588A>G (p.Lys196=) c.703-16597A>G (n.703-16597A>G) | |
6 | g.107210451T>G | CA365322444 | PDSS2 | c.996A>C (p.Lys332Asn) c.171A>C (p.Lys57Asn) c.876+1658A>C (n.876+1658A>C) c.861A>C (p.Lys287Asn) c.588A>C (p.Lys196Asn) c.703-16597A>C (n.703-16597A>C) | |
6 | g.107210452T>A | CA365322445 | PDSS2 | c.995A>T (p.Lys332Ile) c.170A>T (p.Lys57Ile) c.876+1657A>T (n.876+1657A>T) c.860A>T (p.Lys287Ile) c.587A>T (p.Lys196Ile) c.703-16598A>T (n.703-16598A>T) | |
6 | g.107210452T>C | CA365322447 | PDSS2 | c.995A>G (p.Lys332Arg) c.170A>G (p.Lys57Arg) c.876+1657A>G (n.876+1657A>G) c.860A>G (p.Lys287Arg) c.587A>G (p.Lys196Arg) c.703-16598A>G (n.703-16598A>G) | |
6 | g.107210452T>G | CA365322446 | PDSS2 | c.995A>C (p.Lys332Thr) c.170A>C (p.Lys57Thr) c.876+1657A>C (n.876+1657A>C) c.860A>C (p.Lys287Thr) c.587A>C (p.Lys196Thr) c.703-16598A>C (n.703-16598A>C) | |
6 | g.107210453T>A | CA365322448 | PDSS2 | c.994A>T (p.Lys332Ter) c.169A>T (p.Lys57Ter) c.876+1656A>T (n.876+1656A>T) c.859A>T (p.Lys287Ter) c.586A>T (p.Lys196Ter) c.703-16599A>T (n.703-16599A>T) | |
6 | g.107210453T>C | CA365322450 | PDSS2 | c.994A>G (p.Lys332Glu) c.169A>G (p.Lys57Glu) c.876+1656A>G (n.876+1656A>G) c.859A>G (p.Lys287Glu) c.586A>G (p.Lys196Glu) c.703-16599A>G (n.703-16599A>G) | |
6 | g.107210453T>G | CA365322449 | PDSS2 | c.994A>C (p.Lys332Gln) c.169A>C (p.Lys57Gln) c.876+1656A>C (n.876+1656A>C) c.859A>C (p.Lys287Gln) c.586A>C (p.Lys196Gln) c.703-16599A>C (n.703-16599A>C) | |
6 | g.107210454A>C | CA365322451 | PDSS2 | c.993T>G (p.Ile331Met) c.168T>G (p.Ile56Met) c.876+1655T>G (n.876+1655T>G) c.858T>G (p.Ile286Met) c.585T>G (p.Ile195Met) c.703-16600T>G (n.703-16600T>G) | |
6 | g.107210454A>G | CA451563323 | PDSS2 | c.993T>C (p.Ile331=) c.168T>C (p.Ile56=) c.876+1655T>C (n.876+1655T>C) c.858T>C (p.Ile286=) c.585T>C (p.Ile195=) c.703-16600T>C (n.703-16600T>C) | |
6 | g.107210454A>T | CA451563324 | PDSS2 | c.993T>A (p.Ile331=) c.168T>A (p.Ile56=) c.876+1655T>A (n.876+1655T>A) c.858T>A (p.Ile286=) c.585T>A (p.Ile195=) c.703-16600T>A (n.703-16600T>A) | |
6 | g.107210455A= | CA1653786340 | PDSS2 | c.992T= (p.Ile331=) c.167T= (p.Ile56=) c.876+1654T= (n.876+1654T=) c.857T= (p.Ile286=) c.584T= (p.Ile195=) c.703-16601T= (n.703-16601T=) | |
6 | g.107210455A>C | CA365322453 | PDSS2 | c.992T>G (p.Ile331Ser) c.167T>G (p.Ile56Ser) c.876+1654T>G (n.876+1654T>G) c.857T>G (p.Ile286Ser) c.584T>G (p.Ile195Ser) c.703-16601T>G (n.703-16601T>G) | |
6 | g.107210455A>G | CA145597783 | PDSS2 | c.992T>C (p.Ile331Thr) c.167T>C (p.Ile56Thr) c.876+1654T>C (n.876+1654T>C) c.857T>C (p.Ile286Thr) c.584T>C (p.Ile195Thr) c.703-16601T>C (n.703-16601T>C) | dbSNP |
6 | g.107210455A>T | CA365322452 | PDSS2 | c.992T>A (p.Ile331Asn) c.167T>A (p.Ile56Asn) c.876+1654T>A (n.876+1654T>A) c.857T>A (p.Ile286Asn) c.584T>A (p.Ile195Asn) c.703-16601T>A (n.703-16601T>A) | |
6 | g.107210456T>A | CA365322454 | PDSS2 | c.991A>T (p.Ile331Phe) c.166A>T (p.Ile56Phe) c.876+1653A>T (n.876+1653A>T) c.856A>T (p.Ile286Phe) c.583A>T (p.Ile195Phe) c.703-16602A>T (n.703-16602A>T) | |
6 | g.107210456T>C | CA365322455 | PDSS2 | c.991A>G (p.Ile331Val) c.166A>G (p.Ile56Val) c.876+1653A>G (n.876+1653A>G) c.856A>G (p.Ile286Val) c.583A>G (p.Ile195Val) c.703-16602A>G (n.703-16602A>G) | gnomAD v4 |
6 | g.107210456T>G | CA365322456 | PDSS2 | c.991A>C (p.Ile331Leu) c.166A>C (p.Ile56Leu) c.876+1653A>C (n.876+1653A>C) c.856A>C (p.Ile286Leu) c.583A>C (p.Ile195Leu) c.703-16602A>C (n.703-16602A>C) | |
6 | g.107210457C>A | CA365322457 | PDSS2 | c.990G>T (p.Trp330Cys) c.165G>T (p.Trp55Cys) c.876+1652G>T (n.876+1652G>T) c.855G>T (p.Trp285Cys) c.582G>T (p.Trp194Cys) c.703-16603G>T (n.703-16603G>T) | |
6 | g.107210457C>G | CA365322458 | PDSS2 | c.990G>C (p.Trp330Cys) c.165G>C (p.Trp55Cys) c.876+1652G>C (n.876+1652G>C) c.855G>C (p.Trp285Cys) c.582G>C (p.Trp194Cys) c.703-16603G>C (n.703-16603G>C) | |
6 | g.107210457C>T | CA365322459 | PDSS2 | c.990G>A (p.Trp330Ter) c.165G>A (p.Trp55Ter) c.876+1652G>A (n.876+1652G>A) c.855G>A (p.Trp285Ter) c.582G>A (p.Trp194Ter) c.703-16603G>A (n.703-16603G>A) | |
6 | g.107210458C>A | CA365322460 | PDSS2 | c.989G>T (p.Trp330Leu) c.164G>T (p.Trp55Leu) c.876+1651G>T (n.876+1651G>T) c.854G>T (p.Trp285Leu) c.581G>T (p.Trp194Leu) c.703-16604G>T (n.703-16604G>T) | |
6 | g.107210458C>G | CA365322461 | PDSS2 | c.989G>C (p.Trp330Ser) c.164G>C (p.Trp55Ser) c.876+1651G>C (n.876+1651G>C) c.854G>C (p.Trp285Ser) c.581G>C (p.Trp194Ser) c.703-16604G>C (n.703-16604G>C) | |
6 | g.107210458C>T | CA365322462 | PDSS2 | c.989G>A (p.Trp330Ter) c.164G>A (p.Trp55Ter) c.876+1651G>A (n.876+1651G>A) c.854G>A (p.Trp285Ter) c.581G>A (p.Trp194Ter) c.703-16604G>A (n.703-16604G>A) | gnomAD v4 |
6 | g.107210459A>C | CA365322463 | PDSS2 | c.988T>G (p.Trp330Gly) c.163T>G (p.Trp55Gly) c.876+1650T>G (n.876+1650T>G) c.853T>G (p.Trp285Gly) c.580T>G (p.Trp194Gly) c.703-16605T>G (n.703-16605T>G) | |
6 | g.107210459A>G | CA365322464 | PDSS2 | c.988T>C (p.Trp330Arg) c.163T>C (p.Trp55Arg) c.876+1650T>C (n.876+1650T>C) c.853T>C (p.Trp285Arg) c.580T>C (p.Trp194Arg) c.703-16605T>C (n.703-16605T>C) | gnomAD v4 |
6 | g.107210459A>T | CA365322465 | PDSS2 | c.988T>A (p.Trp330Arg) c.163T>A (p.Trp55Arg) c.876+1650T>A (n.876+1650T>A) c.853T>A (p.Trp285Arg) c.580T>A (p.Trp194Arg) c.703-16605T>A (n.703-16605T>A) | |
6 | g.107210460C>A | CA3945969 | PDSS2 | c.987G>T (p.Leu329Phe) c.162G>T (p.Leu54Phe) c.876+1649G>T (n.876+1649G>T) c.852G>T (p.Leu284Phe) c.579G>T (p.Leu193Phe) c.703-16606G>T (n.703-16606G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107210460C= | CA1653786341 | PDSS2 | c.987G= (p.Leu329=) c.162G= (p.Leu54=) c.876+1649G= (n.876+1649G=) c.852G= (p.Leu284=) c.579G= (p.Leu193=) c.703-16606G= (n.703-16606G=) | |
6 | g.107210460C>G | CA365322466 | PDSS2 | c.987G>C (p.Leu329Phe) c.162G>C (p.Leu54Phe) c.876+1649G>C (n.876+1649G>C) c.852G>C (p.Leu284Phe) c.579G>C (p.Leu193Phe) c.703-16606G>C (n.703-16606G>C) | |
6 | g.107210460C>T | CA451563326 | PDSS2 | c.987G>A (p.Leu329=) c.162G>A (p.Leu54=) c.876+1649G>A (n.876+1649G>A) c.852G>A (p.Leu284=) c.579G>A (p.Leu193=) c.703-16606G>A (n.703-16606G>A) | |
6 | g.107210461A>C | CA365322467 | PDSS2 | c.986T>G (p.Leu329Trp) c.161T>G (p.Leu54Trp) c.876+1648T>G (n.876+1648T>G) c.851T>G (p.Leu284Trp) c.578T>G (p.Leu193Trp) c.703-16607T>G (n.703-16607T>G) | |
6 | g.107210461A>G | CA365322468 | PDSS2 | c.986T>C (p.Leu329Ser) c.161T>C (p.Leu54Ser) c.876+1648T>C (n.876+1648T>C) c.851T>C (p.Leu284Ser) c.578T>C (p.Leu193Ser) c.703-16607T>C (n.703-16607T>C) | gnomAD v4 |
6 | g.107210461A>T | CA365322469 | PDSS2 | c.986T>A (p.Leu329Ter) c.161T>A (p.Leu54Ter) c.876+1648T>A (n.876+1648T>A) c.851T>A (p.Leu284Ter) c.578T>A (p.Leu193Ter) c.703-16607T>A (n.703-16607T>A) | |
6 | g.107210462A>C | CA365322470 | PDSS2 | c.985T>G (p.Leu329Val) c.160T>G (p.Leu54Val) c.876+1647T>G (n.876+1647T>G) c.850T>G (p.Leu284Val) c.577T>G (p.Leu193Val) c.703-16608T>G (n.703-16608T>G) | |
6 | g.107210462A>G | CA451563327 | PDSS2 | c.985T>C (p.Leu329=) c.160T>C (p.Leu54=) c.876+1647T>C (n.876+1647T>C) c.850T>C (p.Leu284=) c.577T>C (p.Leu193=) c.703-16608T>C (n.703-16608T>C) | |
6 | g.107210462A>T | CA365322471 | PDSS2 | c.985T>A (p.Leu329Met) c.160T>A (p.Leu54Met) c.876+1647T>A (n.876+1647T>A) c.850T>A (p.Leu284Met) c.577T>A (p.Leu193Met) c.703-16608T>A (n.703-16608T>A) | |
6 | g.107210463A= | CA1653786342 | PDSS2 | c.984T= (p.Asp328=) c.159T= (p.Asp53=) c.876+1646T= (n.876+1646T=) c.849T= (p.Asp283=) c.576T= (p.Asp192=) c.703-16609T= (n.703-16609T=) | |
6 | g.107210463A>C | CA365322472 | PDSS2 | c.984T>G (p.Asp328Glu) c.159T>G (p.Asp53Glu) c.876+1646T>G (n.876+1646T>G) c.849T>G (p.Asp283Glu) c.576T>G (p.Asp192Glu) c.703-16609T>G (n.703-16609T>G) | |
6 | g.107210463A>G | CA145597784 | PDSS2 | c.984T>C (p.Asp328=) c.159T>C (p.Asp53=) c.876+1646T>C (n.876+1646T>C) c.849T>C (p.Asp283=) c.576T>C (p.Asp192=) c.703-16609T>C (n.703-16609T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.107210463A>T | CA365322473 | PDSS2 | c.984T>A (p.Asp328Glu) c.159T>A (p.Asp53Glu) c.876+1646T>A (n.876+1646T>A) c.849T>A (p.Asp283Glu) c.576T>A (p.Asp192Glu) c.703-16609T>A (n.703-16609T>A) | gnomAD v4 |
6 | g.107210464T>A | CA365322474 | PDSS2 | c.983A>T (p.Asp328Val) c.158A>T (p.Asp53Val) c.876+1645A>T (n.876+1645A>T) c.848A>T (p.Asp283Val) c.575A>T (p.Asp192Val) c.703-16610A>T (n.703-16610A>T) | |
6 | g.107210464T>C | CA365322475 | PDSS2 | c.983A>G (p.Asp328Gly) c.158A>G (p.Asp53Gly) c.876+1645A>G (n.876+1645A>G) c.848A>G (p.Asp283Gly) c.575A>G (p.Asp192Gly) c.703-16610A>G (n.703-16610A>G) | gnomAD v4 |
6 | g.107210464T>G | CA365322476 | PDSS2 | c.983A>C (p.Asp328Ala) c.158A>C (p.Asp53Ala) c.876+1645A>C (n.876+1645A>C) c.848A>C (p.Asp283Ala) c.575A>C (p.Asp192Ala) c.703-16610A>C (n.703-16610A>C) | |
6 | g.107210465C>A | CA365322477 | PDSS2 | c.982G>T (p.Asp328Tyr) c.157G>T (p.Asp53Tyr) c.876+1644G>T (n.876+1644G>T) c.847G>T (p.Asp283Tyr) c.574G>T (p.Asp192Tyr) c.703-16611G>T (n.703-16611G>T) | dbSNP |
6 | g.107210465C= | CA1653786343 | PDSS2 | c.982G= (p.Asp328=) c.157G= (p.Asp53=) c.876+1644G= (n.876+1644G=) c.847G= (p.Asp283=) c.574G= (p.Asp192=) c.703-16611G= (n.703-16611G=) | |
6 | g.107210465C>G | CA365322478 | PDSS2 | c.982G>C (p.Asp328His) c.157G>C (p.Asp53His) c.876+1644G>C (n.876+1644G>C) c.847G>C (p.Asp283His) c.574G>C (p.Asp192His) c.703-16611G>C (n.703-16611G>C) | dbSNP |
6 | g.107210465C>T | CA365322479 | PDSS2 | c.982G>A (p.Asp328Asn) c.157G>A (p.Asp53Asn) c.876+1644G>A (n.876+1644G>A) c.847G>A (p.Asp283Asn) c.574G>A (p.Asp192Asn) c.703-16611G>A (n.703-16611G>A) | |
6 | g.107210466T>A | CA365322480 | PDSS2 | c.981A>T (p.Arg327Ser) c.156A>T (p.Arg52Ser) c.876+1643A>T (n.876+1643A>T) c.846A>T (p.Arg282Ser) c.573A>T (p.Arg191Ser) c.703-16612A>T (n.703-16612A>T) | dbSNP |
6 | g.107210466T>C | CA451563331 | PDSS2 | c.981A>G (p.Arg327=) c.156A>G (p.Arg52=) c.876+1643A>G (n.876+1643A>G) c.846A>G (p.Arg282=) c.573A>G (p.Arg191=) c.703-16612A>G (n.703-16612A>G) | |
6 | g.107210466T>G | CA365322481 | PDSS2 | c.981A>C (p.Arg327Ser) c.156A>C (p.Arg52Ser) c.876+1643A>C (n.876+1643A>C) c.846A>C (p.Arg282Ser) c.573A>C (p.Arg191Ser) c.703-16612A>C (n.703-16612A>C) | |
6 | g.107210466T= | CA1653786344 | PDSS2 | c.981A= (p.Arg327=) c.156A= (p.Arg52=) c.876+1643A= (n.876+1643A=) c.846A= (p.Arg282=) c.573A= (p.Arg191=) c.703-16612A= (n.703-16612A=) | |
6 | g.107210467C>A | CA365322482 | PDSS2 | c.980G>T (p.Arg327Ile) c.155G>T (p.Arg52Ile) c.876+1642G>T (n.876+1642G>T) c.845G>T (p.Arg282Ile) c.572G>T (p.Arg191Ile) c.703-16613G>T (n.703-16613G>T) | |
6 | g.107210467C>G | CA365322483 | PDSS2 | c.980G>C (p.Arg327Thr) c.155G>C (p.Arg52Thr) c.876+1642G>C (n.876+1642G>C) c.845G>C (p.Arg282Thr) c.572G>C (p.Arg191Thr) c.703-16613G>C (n.703-16613G>C) | |
6 | g.107210467C>T | CA365322484 | PDSS2 | c.980G>A (p.Arg327Lys) c.155G>A (p.Arg52Lys) c.876+1642G>A (n.876+1642G>A) c.845G>A (p.Arg282Lys) c.572G>A (p.Arg191Lys) c.703-16613G>A (n.703-16613G>A) | |
6 | g.107210468T>A | CA365322485 | PDSS2 | c.979A>T (p.Arg327Ter) c.154A>T (p.Arg52Ter) c.876+1641A>T (n.876+1641A>T) c.844A>T (p.Arg282Ter) c.571A>T (p.Arg191Ter) c.703-16614A>T (n.703-16614A>T) | |
6 | g.107210468T>C | CA365322486 | PDSS2 | c.979A>G (p.Arg327Gly) c.154A>G (p.Arg52Gly) c.876+1641A>G (n.876+1641A>G) c.844A>G (p.Arg282Gly) c.571A>G (p.Arg191Gly) c.703-16614A>G (n.703-16614A>G) | |
6 | g.107210468T>G | CA451563333 | PDSS2 | c.979A>C (p.Arg327=) c.154A>C (p.Arg52=) c.876+1641A>C (n.876+1641A>C) c.844A>C (p.Arg282=) c.571A>C (p.Arg191=) c.703-16614A>C (n.703-16614A>C) | gnomAD v4 |
6 | g.107210469T>A | CA451563334 | PDSS2 | c.978A>T (p.Gly326=) c.153A>T (p.Gly51=) c.876+1640A>T (n.876+1640A>T) c.843A>T (p.Gly281=) c.570A>T (p.Gly190=) c.703-16615A>T (n.703-16615A>T) | |
6 | g.107210469T>C | CA451563335 | PDSS2 | c.978A>G (p.Gly326=) c.153A>G (p.Gly51=) c.876+1640A>G (n.876+1640A>G) c.843A>G (p.Gly281=) c.570A>G (p.Gly190=) c.703-16615A>G (n.703-16615A>G) | |
6 | g.107210469T>G | CA451563336 | PDSS2 | c.978A>C (p.Gly326=) c.153A>C (p.Gly51=) c.876+1640A>C (n.876+1640A>C) c.843A>C (p.Gly281=) c.570A>C (p.Gly190=) c.703-16615A>C (n.703-16615A>C) | |
6 | g.107210470C>A | CA365322487 | PDSS2 | c.977G>T (p.Gly326Val) c.152G>T (p.Gly51Val) c.876+1639G>T (n.876+1639G>T) c.842G>T (p.Gly281Val) c.569G>T (p.Gly190Val) c.703-16616G>T (n.703-16616G>T) | |
6 | g.107210470C>G | CA365322488 | PDSS2 | c.977G>C (p.Gly326Ala) c.152G>C (p.Gly51Ala) c.876+1639G>C (n.876+1639G>C) c.842G>C (p.Gly281Ala) c.569G>C (p.Gly190Ala) c.703-16616G>C (n.703-16616G>C) | gnomAD v4 |
6 | g.107210470C>T | CA365322489 | PDSS2 | c.977G>A (p.Gly326Glu) c.152G>A (p.Gly51Glu) c.876+1639G>A (n.876+1639G>A) c.842G>A (p.Gly281Glu) c.569G>A (p.Gly190Glu) c.703-16616G>A (n.703-16616G>A) | |
6 | g.107210471del | CA2578705076 | PDSS2 | c.977del (p.Gly326GlufsTer?) c.152del (p.Gly51GlufsTer?) c.876+1639del (n.876+1639del) c.842del (p.Gly281GlufsTer?) c.569del (p.Gly190GlufsTer?) c.703-16616del (n.703-16616del) | |
6 | g.107210471C>A | CA365322490 | PDSS2 | c.976G>T (p.Gly326Ter) c.151G>T (p.Gly51Ter) c.876+1638G>T (n.876+1638G>T) c.841G>T (p.Gly281Ter) c.568G>T (p.Gly190Ter) c.703-16617G>T (n.703-16617G>T) | |
6 | g.107210471C>G | CA365322491 | PDSS2 | c.976G>C (p.Gly326Arg) c.151G>C (p.Gly51Arg) c.876+1638G>C (n.876+1638G>C) c.841G>C (p.Gly281Arg) c.568G>C (p.Gly190Arg) c.703-16617G>C (n.703-16617G>C) | |
6 | g.107210471C>T | CA365322492 | PDSS2 | c.976G>A (p.Gly326Arg) c.151G>A (p.Gly51Arg) c.876+1638G>A (n.876+1638G>A) c.841G>A (p.Gly281Arg) c.568G>A (p.Gly190Arg) c.703-16617G>A (n.703-16617G>A) | gnomAD v4 COSMIC COSMIC |
6 | g.107210472A= | CA1653786345 | PDSS2 | c.975T= (p.Leu325=) c.150T= (p.Leu50=) c.876+1637T= (n.876+1637T=) c.840T= (p.Leu280=) c.567T= (p.Leu189=) c.703-16618T= (n.703-16618T=) | |
6 | g.107210472A>C | CA451563337 | PDSS2 | c.975T>G (p.Leu325=) c.150T>G (p.Leu50=) c.876+1637T>G (n.876+1637T>G) c.840T>G (p.Leu280=) c.567T>G (p.Leu189=) c.703-16618T>G (n.703-16618T>G) | |
6 | g.107210472A>G | CA3945970 | PDSS2 | c.975T>C (p.Leu325=) c.150T>C (p.Leu50=) c.876+1637T>C (n.876+1637T>C) c.840T>C (p.Leu280=) c.567T>C (p.Leu189=) c.703-16618T>C (n.703-16618T>C) | dbSNP ExAC gnomAD v2 |
6 | g.107210472A>T | CA451563338 | PDSS2 | c.975T>A (p.Leu325=) c.150T>A (p.Leu50=) c.876+1637T>A (n.876+1637T>A) c.840T>A (p.Leu280=) c.567T>A (p.Leu189=) c.703-16618T>A (n.703-16618T>A) | |
6 | g.107210473A= | CA1653786346 | PDSS2 | c.974T= (p.Leu325=) c.149T= (p.Leu50=) c.876+1636T= (n.876+1636T=) c.839T= (p.Leu280=) c.566T= (p.Leu189=) c.703-16619T= (n.703-16619T=) | |
6 | g.107210473A>C | CA365322494 | PDSS2 | c.974T>G (p.Leu325Arg) c.149T>G (p.Leu50Arg) c.876+1636T>G (n.876+1636T>G) c.839T>G (p.Leu280Arg) c.566T>G (p.Leu189Arg) c.703-16619T>G (n.703-16619T>G) | |
6 | g.107210473A>G | CA3945971 | PDSS2 | c.974T>C (p.Leu325Pro) c.149T>C (p.Leu50Pro) c.876+1636T>C (n.876+1636T>C) c.839T>C (p.Leu280Pro) c.566T>C (p.Leu189Pro) c.703-16619T>C (n.703-16619T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210473A>T | CA365322493 | PDSS2 | c.974T>A (p.Leu325His) c.149T>A (p.Leu50His) c.876+1636T>A (n.876+1636T>A) c.839T>A (p.Leu280His) c.566T>A (p.Leu189His) c.703-16619T>A (n.703-16619T>A) | |
6 | g.107210474G>A | CA365322495 | PDSS2 | c.973C>T (p.Leu325Phe) c.148C>T (p.Leu50Phe) c.876+1635C>T (n.876+1635C>T) c.838C>T (p.Leu280Phe) c.565C>T (p.Leu189Phe) c.703-16620C>T (n.703-16620C>T) | dbSNP gnomAD v4 |
6 | g.107210474G>C | CA365322496 | PDSS2 | c.973C>G (p.Leu325Val) c.148C>G (p.Leu50Val) c.876+1635C>G (n.876+1635C>G) c.838C>G (p.Leu280Val) c.565C>G (p.Leu189Val) c.703-16620C>G (n.703-16620C>G) | |
6 | g.107210474G= | CA1653786347 | PDSS2 | c.973C= (p.Leu325=) c.148C= (p.Leu50=) c.876+1635C= (n.876+1635C=) c.838C= (p.Leu280=) c.565C= (p.Leu189=) c.703-16620C= (n.703-16620C=) | |
6 | g.107210474G>T | CA365322497 | PDSS2 | c.973C>A (p.Leu325Ile) c.148C>A (p.Leu50Ile) c.876+1635C>A (n.876+1635C>A) c.838C>A (p.Leu280Ile) c.565C>A (p.Leu189Ile) c.703-16620C>A (n.703-16620C>A) | COSMIC COSMIC |
6 | g.107210475A>C | CA365322498 | PDSS2 | c.972T>G (p.Phe324Leu) c.147T>G (p.Phe49Leu) c.876+1634T>G (n.876+1634T>G) c.837T>G (p.Phe279Leu) c.564T>G (p.Phe188Leu) c.703-16621T>G (n.703-16621T>G) | |
6 | g.107210475A>G | CA451563344 | PDSS2 | c.972T>C (p.Phe324=) c.147T>C (p.Phe49=) c.876+1634T>C (n.876+1634T>C) c.837T>C (p.Phe279=) c.564T>C (p.Phe188=) c.703-16621T>C (n.703-16621T>C) | |
6 | g.107210475A>T | CA365322499 | PDSS2 | c.972T>A (p.Phe324Leu) c.147T>A (p.Phe49Leu) c.876+1634T>A (n.876+1634T>A) c.837T>A (p.Phe279Leu) c.564T>A (p.Phe188Leu) c.703-16621T>A (n.703-16621T>A) | |
6 | g.107210476A>C | CA365322502 | PDSS2 | c.971T>G (p.Phe324Cys) c.146T>G (p.Phe49Cys) c.876+1633T>G (n.876+1633T>G) c.836T>G (p.Phe279Cys) c.563T>G (p.Phe188Cys) c.703-16622T>G (n.703-16622T>G) | |
6 | g.107210476A>G | CA365322500 | PDSS2 | c.971T>C (p.Phe324Ser) c.146T>C (p.Phe49Ser) c.876+1633T>C (n.876+1633T>C) c.836T>C (p.Phe279Ser) c.563T>C (p.Phe188Ser) c.703-16622T>C (n.703-16622T>C) | |
6 | g.107210476A>T | CA365322501 | PDSS2 | c.971T>A (p.Phe324Tyr) c.146T>A (p.Phe49Tyr) c.876+1633T>A (n.876+1633T>A) c.836T>A (p.Phe279Tyr) c.563T>A (p.Phe188Tyr) c.703-16622T>A (n.703-16622T>A) | |
6 | g.107210477A>C | CA365322503 | PDSS2 | c.970T>G (p.Phe324Val) c.145T>G (p.Phe49Val) c.876+1632T>G (n.876+1632T>G) c.835T>G (p.Phe279Val) c.562T>G (p.Phe188Val) c.703-16623T>G (n.703-16623T>G) | |
6 | g.107210477A>G | CA365322504 | PDSS2 | c.970T>C (p.Phe324Leu) c.145T>C (p.Phe49Leu) c.876+1632T>C (n.876+1632T>C) c.835T>C (p.Phe279Leu) c.562T>C (p.Phe188Leu) c.703-16623T>C (n.703-16623T>C) | |
6 | g.107210477A>T | CA365322505 | PDSS2 | c.970T>A (p.Phe324Ile) c.145T>A (p.Phe49Ile) c.876+1632T>A (n.876+1632T>A) c.835T>A (p.Phe279Ile) c.562T>A (p.Phe188Ile) c.703-16623T>A (n.703-16623T>A) | |
6 | g.107210478T>A | CA365322506 | PDSS2 | c.969A>T (p.Glu323Asp) c.144A>T (p.Glu48Asp) c.876+1631A>T (n.876+1631A>T) c.834A>T (p.Glu278Asp) c.561A>T (p.Glu187Asp) c.703-16624A>T (n.703-16624A>T) | |
6 | g.107210478T>C | CA451563345 | PDSS2 | c.969A>G (p.Glu323=) c.144A>G (p.Glu48=) c.876+1631A>G (n.876+1631A>G) c.834A>G (p.Glu278=) c.561A>G (p.Glu187=) c.703-16624A>G (n.703-16624A>G) | |
6 | g.107210478T>G | CA365322507 | PDSS2 | c.969A>C (p.Glu323Asp) c.144A>C (p.Glu48Asp) c.876+1631A>C (n.876+1631A>C) c.834A>C (p.Glu278Asp) c.561A>C (p.Glu187Asp) c.703-16624A>C (n.703-16624A>C) | |
6 | g.107210479T>A | CA365322508 | PDSS2 | c.968A>T (p.Glu323Val) c.143A>T (p.Glu48Val) c.876+1630A>T (n.876+1630A>T) c.833A>T (p.Glu278Val) c.560A>T (p.Glu187Val) c.703-16625A>T (n.703-16625A>T) | |
6 | g.107210479T>C | CA365322510 | PDSS2 | c.968A>G (p.Glu323Gly) c.143A>G (p.Glu48Gly) c.876+1630A>G (n.876+1630A>G) c.833A>G (p.Glu278Gly) c.560A>G (p.Glu187Gly) c.703-16625A>G (n.703-16625A>G) | |
6 | g.107210479T>G | CA365322509 | PDSS2 | c.968A>C (p.Glu323Ala) c.143A>C (p.Glu48Ala) c.876+1630A>C (n.876+1630A>C) c.833A>C (p.Glu278Ala) c.560A>C (p.Glu187Ala) c.703-16625A>C (n.703-16625A>C) | |
6 | g.107210480C>A | CA365322511 | PDSS2 | c.967G>T (p.Glu323Ter) c.142G>T (p.Glu48Ter) c.876+1629G>T (n.876+1629G>T) c.832G>T (p.Glu278Ter) c.559G>T (p.Glu187Ter) c.703-16626G>T (n.703-16626G>T) | |
6 | g.107210480C= | CA1653786348 | PDSS2 | c.967G= (p.Glu323=) c.142G= (p.Glu48=) c.876+1629G= (n.876+1629G=) c.832G= (p.Glu278=) c.559G= (p.Glu187=) c.703-16626G= (n.703-16626G=) | |
6 | g.107210480C>G | CA365322512 | PDSS2 | c.967G>C (p.Glu323Gln) c.142G>C (p.Glu48Gln) c.876+1629G>C (n.876+1629G>C) c.832G>C (p.Glu278Gln) c.559G>C (p.Glu187Gln) c.703-16626G>C (n.703-16626G>C) | |
6 | g.107210480C>T | CA145597785 | PDSS2 | c.967G>A (p.Glu323Lys) c.142G>A (p.Glu48Lys) c.876+1629G>A (n.876+1629G>A) c.832G>A (p.Glu278Lys) c.559G>A (p.Glu187Lys) c.703-16626G>A (n.703-16626G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.107210481C>A | CA365322513 | PDSS2 | c.966G>T (p.Gln322His) c.141G>T (p.Gln47His) c.876+1628G>T (n.876+1628G>T) c.831G>T (p.Gln277His) c.558G>T (p.Gln186His) c.703-16627G>T (n.703-16627G>T) | |
6 | g.107210481C= | CA1653786349 | PDSS2 | c.966G= (p.Gln322=) c.141G= (p.Gln47=) c.876+1628G= (n.876+1628G=) c.831G= (p.Gln277=) c.558G= (p.Gln186=) c.703-16627G= (n.703-16627G=) | |
6 | g.107210481C>G | CA365322514 | PDSS2 | c.966G>C (p.Gln322His) c.141G>C (p.Gln47His) c.876+1628G>C (n.876+1628G>C) c.831G>C (p.Gln277His) c.558G>C (p.Gln186His) c.703-16627G>C (n.703-16627G>C) | |
6 | g.107210481C>T | CA145597786 | PDSS2 | c.966G>A (p.Gln322=) c.141G>A (p.Gln47=) c.876+1628G>A (n.876+1628G>A) c.831G>A (p.Gln277=) c.558G>A (p.Gln186=) c.703-16627G>A (n.703-16627G>A) | dbSNP |
6 | g.107210482T>A | CA365322515 | PDSS2 | c.965A>T (p.Gln322Leu) c.140A>T (p.Gln47Leu) c.876+1627A>T (n.876+1627A>T) c.830A>T (p.Gln277Leu) c.557A>T (p.Gln186Leu) c.703-16628A>T (n.703-16628A>T) | |
6 | g.107210482T>C | CA365322516 | PDSS2 | c.965A>G (p.Gln322Arg) c.140A>G (p.Gln47Arg) c.876+1627A>G (n.876+1627A>G) c.830A>G (p.Gln277Arg) c.557A>G (p.Gln186Arg) c.703-16628A>G (n.703-16628A>G) | |
6 | g.107210482T>G | CA365322517 | PDSS2 | c.965A>C (p.Gln322Pro) c.140A>C (p.Gln47Pro) c.876+1627A>C (n.876+1627A>C) c.830A>C (p.Gln277Pro) c.557A>C (p.Gln186Pro) c.703-16628A>C (n.703-16628A>C) | |
6 | g.107210483G>A | CA114833 | PDSS2 | c.964C>T (p.Gln322Ter) c.139C>T (p.Gln47Ter) c.876+1626C>T (n.876+1626C>T) c.829C>T (p.Gln277Ter) c.556C>T (p.Gln186Ter) c.703-16629C>T (n.703-16629C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210483G>C | CA3945972 | PDSS2 | c.964C>G (p.Gln322Glu) c.139C>G (p.Gln47Glu) c.876+1626C>G (n.876+1626C>G) c.829C>G (p.Gln277Glu) c.556C>G (p.Gln186Glu) c.703-16629C>G (n.703-16629C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107210483G= | CA1653786350 | PDSS2 | c.964C= (p.Gln322=) c.139C= (p.Gln47=) c.876+1626C= (n.876+1626C=) c.829C= (p.Gln277=) c.556C= (p.Gln186=) c.703-16629C= (n.703-16629C=) | |
6 | g.107210483G>T | CA365322518 | PDSS2 | c.964C>A (p.Gln322Lys) c.139C>A (p.Gln47Lys) c.876+1626C>A (n.876+1626C>A) c.829C>A (p.Gln277Lys) c.556C>A (p.Gln186Lys) c.703-16629C>A (n.703-16629C>A) | |
6 | g.107210484del | CA2679872478 | PDSS2 | c.963del (p.Gln322ArgfsTer?) c.138del (p.Gln47ArgfsTer?) c.876+1625del (n.876+1625del) c.828del (p.Gln277ArgfsTer?) c.555del (p.Gln186ArgfsTer?) c.703-16630del (n.703-16630del) | gnomAD v4 |
6 | g.107210484A>C | CA365322519 | PDSS2 | c.963T>G (p.His321Gln) c.138T>G (p.His46Gln) c.876+1625T>G (n.876+1625T>G) c.828T>G (p.His276Gln) c.555T>G (p.His185Gln) c.703-16630T>G (n.703-16630T>G) | |
6 | g.107210484A>G | CA451563346 | PDSS2 | c.963T>C (p.His321=) c.138T>C (p.His46=) c.876+1625T>C (n.876+1625T>C) c.828T>C (p.His276=) c.555T>C (p.His185=) c.703-16630T>C (n.703-16630T>C) | |
6 | g.107210484A>T | CA365322520 | PDSS2 | c.963T>A (p.His321Gln) c.138T>A (p.His46Gln) c.876+1625T>A (n.876+1625T>A) c.828T>A (p.His276Gln) c.555T>A (p.His185Gln) c.703-16630T>A (n.703-16630T>A) | |
6 | g.107210485T>A | CA365322523 | PDSS2 | c.962A>T (p.His321Leu) c.137A>T (p.His46Leu) c.876+1624A>T (n.876+1624A>T) c.827A>T (p.His276Leu) c.554A>T (p.His185Leu) c.703-16631A>T (n.703-16631A>T) | dbSNP |
6 | g.107210485T>C | CA365322521 | PDSS2 | c.962A>G (p.His321Arg) c.137A>G (p.His46Arg) c.876+1624A>G (n.876+1624A>G) c.827A>G (p.His276Arg) c.554A>G (p.His185Arg) c.703-16631A>G (n.703-16631A>G) | dbSNP |
6 | g.107210485T>G | CA365322522 | PDSS2 | c.962A>C (p.His321Pro) c.137A>C (p.His46Pro) c.876+1624A>C (n.876+1624A>C) c.827A>C (p.His276Pro) c.554A>C (p.His185Pro) c.703-16631A>C (n.703-16631A>C) | |
6 | g.107210485T= | CA1653786351 | PDSS2 | c.962A= (p.His321=) c.137A= (p.His46=) c.876+1624A= (n.876+1624A=) c.827A= (p.His276=) c.554A= (p.His185=) c.703-16631A= (n.703-16631A=) | |
6 | g.107210486G>A | CA365322524 | PDSS2 | c.961C>T (p.His321Tyr) c.136C>T (p.His46Tyr) c.876+1623C>T (n.876+1623C>T) c.826C>T (p.His276Tyr) c.553C>T (p.His185Tyr) c.703-16632C>T (n.703-16632C>T) | |
6 | g.107210486G>C | CA365322525 | PDSS2 | c.961C>G (p.His321Asp) c.136C>G (p.His46Asp) c.876+1623C>G (n.876+1623C>G) c.826C>G (p.His276Asp) c.553C>G (p.His185Asp) c.703-16632C>G (n.703-16632C>G) | |
6 | g.107210486G>T | CA365322526 | PDSS2 | c.961C>A (p.His321Asn) c.136C>A (p.His46Asn) c.876+1623C>A (n.876+1623C>A) c.826C>A (p.His276Asn) c.553C>A (p.His185Asn) c.703-16632C>A (n.703-16632C>A) | gnomAD v4 |
6 | g.107210486_107210488del | CA2679872479 | PDSS2 | c.959_961del (p.Leu320_His321delinsTyr) c.134_136del (p.Leu45_His46delinsTyr) c.876+1621_876+1623del (n.876+1621_876+1623del) c.824_826del (p.Leu275_His276delinsTyr) c.551_553del (p.Leu184_His185delinsTyr) c.703-16634_703-16632del (n.703-16634_703-16632del) | gnomAD v4 |
6 | g.107210487T>A | CA365322527 | PDSS2 | c.960A>T (p.Leu320Phe) c.135A>T (p.Leu45Phe) c.876+1622A>T (n.876+1622A>T) c.825A>T (p.Leu275Phe) c.552A>T (p.Leu184Phe) c.703-16633A>T (n.703-16633A>T) | |
6 | g.107210487T>C | CA451563347 | PDSS2 | c.960A>G (p.Leu320=) c.135A>G (p.Leu45=) c.876+1622A>G (n.876+1622A>G) c.825A>G (p.Leu275=) c.552A>G (p.Leu184=) c.703-16633A>G (n.703-16633A>G) | gnomAD v4 |
6 | g.107210487T>G | CA365322528 | PDSS2 | c.960A>C (p.Leu320Phe) c.135A>C (p.Leu45Phe) c.876+1622A>C (n.876+1622A>C) c.825A>C (p.Leu275Phe) c.552A>C (p.Leu184Phe) c.703-16633A>C (n.703-16633A>C) | |
6 | g.107210488A= | CA1653786352 | PDSS2 | c.959T= (p.Leu320=) c.134T= (p.Leu45=) c.876+1621T= (n.876+1621T=) c.824T= (p.Leu275=) c.551T= (p.Leu184=) c.703-16634T= (n.703-16634T=) | |
6 | g.107210488A>C | CA365322529 | PDSS2 | c.959T>G (p.Leu320Ter) c.134T>G (p.Leu45Ter) c.876+1621T>G (n.876+1621T>G) c.824T>G (p.Leu275Ter) c.551T>G (p.Leu184Ter) c.703-16634T>G (n.703-16634T>G) | |
6 | g.107210488A>G | CA365322530 | PDSS2 | c.959T>C (p.Leu320Ser) c.134T>C (p.Leu45Ser) c.876+1621T>C (n.876+1621T>C) c.824T>C (p.Leu275Ser) c.551T>C (p.Leu184Ser) c.703-16634T>C (n.703-16634T>C) | dbSNP |
6 | g.107210488A>T | CA365322531 | PDSS2 | c.959T>A (p.Leu320Ter) c.134T>A (p.Leu45Ter) c.876+1621T>A (n.876+1621T>A) c.824T>A (p.Leu275Ter) c.551T>A (p.Leu184Ter) c.703-16634T>A (n.703-16634T>A) | |
6 | g.107210489A>C | CA365322532 | PDSS2 | c.958T>G (p.Leu320Val) c.133T>G (p.Leu45Val) c.876+1620T>G (n.876+1620T>G) c.823T>G (p.Leu275Val) c.550T>G (p.Leu184Val) c.703-16635T>G (n.703-16635T>G) | |
6 | g.107210489A>G | CA451563348 | PDSS2 | c.958T>C (p.Leu320=) c.133T>C (p.Leu45=) c.876+1620T>C (n.876+1620T>C) c.823T>C (p.Leu275=) c.550T>C (p.Leu184=) c.703-16635T>C (n.703-16635T>C) | |
6 | g.107210489A>T | CA365322533 | PDSS2 | c.958T>A (p.Leu320Ile) c.133T>A (p.Leu45Ile) c.876+1620T>A (n.876+1620T>A) c.823T>A (p.Leu275Ile) c.550T>A (p.Leu184Ile) c.703-16635T>A (n.703-16635T>A) | |
6 | g.107210490G>A | CA451563351 | PDSS2 | c.957C>T (p.Val319=) c.132C>T (p.Val44=) c.876+1619C>T (n.876+1619C>T) c.822C>T (p.Val274=) c.549C>T (p.Val183=) c.703-16636C>T (n.703-16636C>T) | |
6 | g.107210490G>C | CA451563349 | PDSS2 | c.957C>G (p.Val319=) c.132C>G (p.Val44=) c.876+1619C>G (n.876+1619C>G) c.822C>G (p.Val274=) c.549C>G (p.Val183=) c.703-16636C>G (n.703-16636C>G) | |
6 | g.107210490G>T | CA451563350 | PDSS2 | c.957C>A (p.Val319=) c.132C>A (p.Val44=) c.876+1619C>A (n.876+1619C>A) c.822C>A (p.Val274=) c.549C>A (p.Val183=) c.703-16636C>A (n.703-16636C>A) | |
6 | g.107210490_107210493del | CA2679872480 | PDSS2 | c.954_957del (p.Val319TyrfsTer?) c.129_132del (p.Val44TyrfsTer?) c.876+1616_876+1619del (n.876+1616_876+1619del) c.819_822del (p.Val274TyrfsTer?) c.546_549del (p.Val183TyrfsTer?) c.703-16639_703-16636del (n.703-16639_703-16636del) | gnomAD v4 |
6 | g.107210491A>C | CA365322535 | PDSS2 | c.956T>G (p.Val319Gly) c.131T>G (p.Val44Gly) c.876+1618T>G (n.876+1618T>G) c.821T>G (p.Val274Gly) c.548T>G (p.Val183Gly) c.703-16637T>G (n.703-16637T>G) | |
6 | g.107210491A>G | CA365322536 | PDSS2 | c.956T>C (p.Val319Ala) c.131T>C (p.Val44Ala) c.876+1618T>C (n.876+1618T>C) c.821T>C (p.Val274Ala) c.548T>C (p.Val183Ala) c.703-16637T>C (n.703-16637T>C) | |
6 | g.107210491A>T | CA365322534 | PDSS2 | c.956T>A (p.Val319Asp) c.131T>A (p.Val44Asp) c.876+1618T>A (n.876+1618T>A) c.821T>A (p.Val274Asp) c.548T>A (p.Val183Asp) c.703-16637T>A (n.703-16637T>A) | gnomAD v4 |
6 | g.107210492C>A | CA365322537 | PDSS2 | c.955G>T (p.Val319Phe) c.130G>T (p.Val44Phe) c.876+1617G>T (n.876+1617G>T) c.820G>T (p.Val274Phe) c.547G>T (p.Val183Phe) c.703-16638G>T (n.703-16638G>T) | |
6 | g.107210492C>G | CA365322538 | PDSS2 | c.955G>C (p.Val319Leu) c.130G>C (p.Val44Leu) c.876+1617G>C (n.876+1617G>C) c.820G>C (p.Val274Leu) c.547G>C (p.Val183Leu) c.703-16638G>C (n.703-16638G>C) | |
6 | g.107210492C>T | CA365322539 | PDSS2 | c.955G>A (p.Val319Ile) c.130G>A (p.Val44Ile) c.876+1617G>A (n.876+1617G>A) c.820G>A (p.Val274Ile) c.547G>A (p.Val183Ile) c.703-16638G>A (n.703-16638G>A) | |
6 | g.107210493T>A | CA451563354 | PDSS2 | c.954A>T (p.Val318=) c.129A>T (p.Val43=) c.876+1616A>T (n.876+1616A>T) c.819A>T (p.Val273=) c.546A>T (p.Val182=) c.703-16639A>T (n.703-16639A>T) | |
6 | g.107210493T>C | CA451563356 | PDSS2 | c.954A>G (p.Val318=) c.129A>G (p.Val43=) c.876+1616A>G (n.876+1616A>G) c.819A>G (p.Val273=) c.546A>G (p.Val182=) c.703-16639A>G (n.703-16639A>G) | gnomAD v4 |
6 | g.107210493T>G | CA451563355 | PDSS2 | c.954A>C (p.Val318=) c.129A>C (p.Val43=) c.876+1616A>C (n.876+1616A>C) c.819A>C (p.Val273=) c.546A>C (p.Val182=) c.703-16639A>C (n.703-16639A>C) | |
6 | g.107210493dup | CA2679872481 | PDSS2 | c.954dup (p.Val319SerfsTer14) c.129dup (p.Val44SerfsTer14) c.876+1616dup (n.876+1616dup) c.819dup (p.Val274SerfsTer14) c.546dup (p.Val183SerfsTer14) c.703-16639dup (n.703-16639dup) | gnomAD v4 |
6 | g.107210494A>C | CA365322540 | PDSS2 | c.953T>G (p.Val318Gly) c.128T>G (p.Val43Gly) c.876+1615T>G (n.876+1615T>G) c.818T>G (p.Val273Gly) c.545T>G (p.Val182Gly) c.703-16640T>G (n.703-16640T>G) | |
6 | g.107210494A>G | CA365322541 | PDSS2 | c.953T>C (p.Val318Ala) c.128T>C (p.Val43Ala) c.876+1615T>C (n.876+1615T>C) c.818T>C (p.Val273Ala) c.545T>C (p.Val182Ala) c.703-16640T>C (n.703-16640T>C) | gnomAD v4 |
6 | g.107210494A>T | CA365322542 | PDSS2 | c.953T>A (p.Val318Glu) c.128T>A (p.Val43Glu) c.876+1615T>A (n.876+1615T>A) c.818T>A (p.Val273Glu) c.545T>A (p.Val182Glu) c.703-16640T>A (n.703-16640T>A) |