Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.107210483G>ACA114833PDSS2c.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
6g.107210483G>CCA3945972PDSS2c.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
6g.107210483G=CA1653786350PDSS2c.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=)
6g.107210483G>TCA365322518PDSS2c.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)
6g.107210484delCA2679872478PDSS2c.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
6g.107210484A>CCA365322519PDSS2c.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)
6g.107210484A>GCA451563346PDSS2c.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)
6g.107210484A>TCA365322520PDSS2c.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)
6g.107210485T>ACA365322523PDSS2c.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
6g.107210485T>CCA365322521PDSS2c.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
6g.107210485T>GCA365322522PDSS2c.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)
6g.107210485T=CA1653786351PDSS2c.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=)
6g.107210486G>ACA365322524PDSS2c.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)
6g.107210486G>CCA365322525PDSS2c.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)
6g.107210486G>TCA365322526PDSS2c.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
6g.107210486_107210488delCA2679872479PDSS2c.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
6g.107210487T>ACA365322527PDSS2c.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)
6g.107210487T>CCA451563347PDSS2c.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
6g.107210487T>GCA365322528PDSS2c.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)
6g.107210488A=CA1653786352PDSS2c.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=)
6g.107210488A>CCA365322529PDSS2c.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)
6g.107210488A>GCA365322530PDSS2c.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
6g.107210488A>TCA365322531PDSS2c.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)
6g.107210489A>CCA365322532PDSS2c.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)
6g.107210489A>GCA451563348PDSS2c.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)
6g.107210489A>TCA365322533PDSS2c.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)
6g.107210490G>ACA451563351PDSS2c.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)
6g.107210490G>CCA451563349PDSS2c.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)
6g.107210490G>TCA451563350PDSS2c.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)
6g.107210490_107210493delCA2679872480PDSS2c.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
6g.107210491A>CCA365322535PDSS2c.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)
6g.107210491A>GCA365322536PDSS2c.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)
6g.107210491A>TCA365322534PDSS2c.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
6g.107210492C>ACA365322537PDSS2c.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)
6g.107210492C>GCA365322538PDSS2c.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)
6g.107210492C>TCA365322539PDSS2c.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)
6g.107210493T>ACA451563354PDSS2c.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)
6g.107210493T>CCA451563356PDSS2c.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
6g.107210493T>GCA451563355PDSS2c.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)
6g.107210493dupCA2679872481PDSS2c.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
6g.107210494A>CCA365322540PDSS2c.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)
6g.107210494A>GCA365322541PDSS2c.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
6g.107210494A>TCA365322542PDSS2c.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)
6g.107210495C>ACA365322543PDSS2c.952G>T (p.Val318Leu)
c.127G>T (p.Val43Leu)
c.876+1614G>T (n.876+1614G>T)
c.817G>T (p.Val273Leu)
c.544G>T (p.Val182Leu)
c.703-16641G>T (n.703-16641G>T)
6g.107210495C=CA1653786353PDSS2c.952G= (p.Val318=)
c.127G= (p.Val43=)
c.876+1614G= (n.876+1614G=)
c.817G= (p.Val273=)
c.544G= (p.Val182=)
c.703-16641G= (n.703-16641G=)
6g.107210495C>GCA365322544PDSS2c.952G>C (p.Val318Leu)
c.127G>C (p.Val43Leu)
c.876+1614G>C (n.876+1614G>C)
c.817G>C (p.Val273Leu)
c.544G>C (p.Val182Leu)
c.703-16641G>C (n.703-16641G>C)
6g.107210495C>TCA145597787PDSS2c.952G>A (p.Val318Ile)
c.127G>A (p.Val43Ile)
c.876+1614G>A (n.876+1614G>A)
c.817G>A (p.Val273Ile)
c.544G>A (p.Val182Ile)
c.703-16641G>A (n.703-16641G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.107210496_107210497insTCACA2679872482PDSS2c.952_953insATG (p.Pro317_Val318insAsp)
c.127_128insATG (p.Pro42_Val43insAsp)
c.876+1614_876+1615insATG (n.876+1614_876+1615insATG)
c.817_818insATG (p.Pro272_Val273insAsp)
c.544_545insATG (p.Pro181_Val182insAsp)
c.703-16641_703-16640insATG (n.703-16641_703-16640insATG)
 gnomAD v4
6g.107210496A=CA1653786354PDSS2c.951T= (p.Pro317=)
c.126T= (p.Pro42=)
c.876+1613T= (n.876+1613T=)
c.816T= (p.Pro272=)
c.543T= (p.Pro181=)
c.703-16642T= (n.703-16642T=)
6g.107210496A>CCA451563357PDSS2c.951T>G (p.Pro317=)
c.126T>G (p.Pro42=)
c.876+1613T>G (n.876+1613T>G)
c.816T>G (p.Pro272=)
c.543T>G (p.Pro181=)
c.703-16642T>G (n.703-16642T>G)
6g.107210496A>GCA3945973PDSS2c.951T>C (p.Pro317=)
c.126T>C (p.Pro42=)
c.876+1613T>C (n.876+1613T>C)
c.816T>C (p.Pro272=)
c.543T>C (p.Pro181=)
c.703-16642T>C (n.703-16642T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107210496A>TCA451563358PDSS2c.951T>A (p.Pro317=)
c.126T>A (p.Pro42=)
c.876+1613T>A (n.876+1613T>A)
c.816T>A (p.Pro272=)
c.543T>A (p.Pro181=)
c.703-16642T>A (n.703-16642T>A)
6g.107210497G>ACA365322545PDSS2c.950C>T (p.Pro317Leu)
c.125C>T (p.Pro42Leu)
c.876+1612C>T (n.876+1612C>T)
c.815C>T (p.Pro272Leu)
c.542C>T (p.Pro181Leu)
c.703-16643C>T (n.703-16643C>T)
 COSMIC
6g.107210497G>CCA365322546PDSS2c.950C>G (p.Pro317Arg)
c.125C>G (p.Pro42Arg)
c.876+1612C>G (n.876+1612C>G)
c.815C>G (p.Pro272Arg)
c.542C>G (p.Pro181Arg)
c.703-16643C>G (n.703-16643C>G)
6g.107210497G>TCA365322547PDSS2c.950C>A (p.Pro317His)
c.125C>A (p.Pro42His)
c.876+1612C>A (n.876+1612C>A)
c.815C>A (p.Pro272His)
c.542C>A (p.Pro181His)
c.703-16643C>A (n.703-16643C>A)
6g.107210498G>ACA365322548PDSS2c.949C>T (p.Pro317Ser)
c.124C>T (p.Pro42Ser)
c.876+1611C>T (n.876+1611C>T)
c.814C>T (p.Pro272Ser)
c.541C>T (p.Pro181Ser)
c.703-16644C>T (n.703-16644C>T)
6g.107210498G>CCA365322550PDSS2c.949C>G (p.Pro317Ala)
c.124C>G (p.Pro42Ala)
c.876+1611C>G (n.876+1611C>G)
c.814C>G (p.Pro272Ala)
c.541C>G (p.Pro181Ala)
c.703-16644C>G (n.703-16644C>G)
 gnomAD v4
6g.107210498G>TCA365322549PDSS2c.949C>A (p.Pro317Thr)
c.124C>A (p.Pro42Thr)
c.876+1611C>A (n.876+1611C>A)
c.814C>A (p.Pro272Thr)
c.541C>A (p.Pro181Thr)
c.703-16644C>A (n.703-16644C>A)
 gnomAD v4
6g.107210499A=CA1653786355PDSS2c.948T= (p.Ala316=)
c.123T= (p.Ala41=)
c.876+1610T= (n.876+1610T=)
c.813T= (p.Ala271=)
c.540T= (p.Ala180=)
c.703-16645T= (n.703-16645T=)
6g.107210499A>CCA451563362PDSS2c.948T>G (p.Ala316=)
c.123T>G (p.Ala41=)
c.876+1610T>G (n.876+1610T>G)
c.813T>G (p.Ala271=)
c.540T>G (p.Ala180=)
c.703-16645T>G (n.703-16645T>G)
6g.107210499A>GCA451563363PDSS2c.948T>C (p.Ala316=)
c.123T>C (p.Ala41=)
c.876+1610T>C (n.876+1610T>C)
c.813T>C (p.Ala271=)
c.540T>C (p.Ala180=)
c.703-16645T>C (n.703-16645T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.107210499A>TCA451563364PDSS2c.948T>A (p.Ala316=)
c.123T>A (p.Ala41=)
c.876+1610T>A (n.876+1610T>A)
c.813T>A (p.Ala271=)
c.540T>A (p.Ala180=)
c.703-16645T>A (n.703-16645T>A)
6g.107210500G>ACA365322551PDSS2c.947C>T (p.Ala316Val)
c.122C>T (p.Ala41Val)
c.876+1609C>T (n.876+1609C>T)
c.812C>T (p.Ala271Val)
c.539C>T (p.Ala180Val)
c.703-16646C>T (n.703-16646C>T)
 dbSNP gnomAD v4
6g.107210500G>CCA365322552PDSS2c.947C>G (p.Ala316Gly)
c.122C>G (p.Ala41Gly)
c.876+1609C>G (n.876+1609C>G)
c.812C>G (p.Ala271Gly)
c.539C>G (p.Ala180Gly)
c.703-16646C>G (n.703-16646C>G)
 gnomAD v4
6g.107210500G>TCA365322553PDSS2c.947C>A (p.Ala316Asp)
c.122C>A (p.Ala41Asp)
c.876+1609C>A (n.876+1609C>A)
c.812C>A (p.Ala271Asp)
c.539C>A (p.Ala180Asp)
c.703-16646C>A (n.703-16646C>A)
6g.107210501C>ACA365322554PDSS2c.946G>T (p.Ala316Ser)
c.121G>T (p.Ala41Ser)
c.876+1608G>T (n.876+1608G>T)
c.811G>T (p.Ala271Ser)
c.538G>T (p.Ala180Ser)
c.703-16647G>T (n.703-16647G>T)
6g.107210501C>GCA365322555PDSS2c.946G>C (p.Ala316Pro)
c.121G>C (p.Ala41Pro)
c.876+1608G>C (n.876+1608G>C)
c.811G>C (p.Ala271Pro)
c.538G>C (p.Ala180Pro)
c.703-16647G>C (n.703-16647G>C)
6g.107210501C>TCA365322556PDSS2c.946G>A (p.Ala316Thr)
c.121G>A (p.Ala41Thr)
c.876+1608G>A (n.876+1608G>A)
c.811G>A (p.Ala271Thr)
c.538G>A (p.Ala180Thr)
c.703-16647G>A (n.703-16647G>A)
 gnomAD v4
6g.107210502T>ACA451563365PDSS2c.945A>T (p.Ser315=)
c.120A>T (p.Ser40=)
c.876+1607A>T (n.876+1607A>T)
c.810A>T (p.Ser270=)
c.537A>T (p.Ser179=)
c.703-16648A>T (n.703-16648A>T)
6g.107210502T>CCA451563366PDSS2c.945A>G (p.Ser315=)
c.120A>G (p.Ser40=)
c.876+1607A>G (n.876+1607A>G)
c.810A>G (p.Ser270=)
c.537A>G (p.Ser179=)
c.703-16648A>G (n.703-16648A>G)
6g.107210502T>GCA451563368PDSS2c.945A>C (p.Ser315=)
c.120A>C (p.Ser40=)
c.876+1607A>C (n.876+1607A>C)
c.810A>C (p.Ser270=)
c.537A>C (p.Ser179=)
c.703-16648A>C (n.703-16648A>C)
6g.107210503G>ACA365322557PDSS2c.944C>T (p.Ser315Leu)
c.119C>T (p.Ser40Leu)
c.876+1606C>T (n.876+1606C>T)
c.809C>T (p.Ser270Leu)
c.536C>T (p.Ser179Leu)
c.703-16649C>T (n.703-16649C>T)
6g.107210503G>CCA365322558PDSS2c.944C>G (p.Ser315Ter)
c.119C>G (p.Ser40Ter)
c.876+1606C>G (n.876+1606C>G)
c.809C>G (p.Ser270Ter)
c.536C>G (p.Ser179Ter)
c.703-16649C>G (n.703-16649C>G)
6g.107210503G>TCA365322559PDSS2c.944C>A (p.Ser315Ter)
c.119C>A (p.Ser40Ter)
c.876+1606C>A (n.876+1606C>A)
c.809C>A (p.Ser270Ter)
c.536C>A (p.Ser179Ter)
c.703-16649C>A (n.703-16649C>A)
 gnomAD v4
6g.107210504A>CCA365322560PDSS2c.943T>G (p.Ser315Ala)
c.118T>G (p.Ser40Ala)
c.876+1605T>G (n.876+1605T>G)
c.808T>G (p.Ser270Ala)
c.535T>G (p.Ser179Ala)
c.703-16650T>G (n.703-16650T>G)
6g.107210504A>GCA365322561PDSS2c.943T>C (p.Ser315Pro)
c.118T>C (p.Ser40Pro)
c.876+1605T>C (n.876+1605T>C)
c.808T>C (p.Ser270Pro)
c.535T>C (p.Ser179Pro)
c.703-16650T>C (n.703-16650T>C)
6g.107210504A>TCA365322562PDSS2c.943T>A (p.Ser315Thr)
c.118T>A (p.Ser40Thr)
c.876+1605T>A (n.876+1605T>A)
c.808T>A (p.Ser270Thr)
c.535T>A (p.Ser179Thr)
c.703-16650T>A (n.703-16650T>A)
6g.107210505G>ACA451563370PDSS2c.942C>T (p.Asn314=)
c.117C>T (p.Asn39=)
c.876+1604C>T (n.876+1604C>T)
c.807C>T (p.Asn269=)
c.534C>T (p.Asn178=)
c.703-16651C>T (n.703-16651C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107210505G>CCA365322563PDSS2c.942C>G (p.Asn314Lys)
c.117C>G (p.Asn39Lys)
c.876+1604C>G (n.876+1604C>G)
c.807C>G (p.Asn269Lys)
c.534C>G (p.Asn178Lys)
c.703-16651C>G (n.703-16651C>G)
 gnomAD v4
6g.107210505G=CA1653786356PDSS2c.942C= (p.Asn314=)
c.117C= (p.Asn39=)
c.876+1604C= (n.876+1604C=)
c.807C= (p.Asn269=)
c.534C= (p.Asn178=)
c.703-16651C= (n.703-16651C=)
6g.107210505G>TCA365322564PDSS2c.942C>A (p.Asn314Lys)
c.117C>A (p.Asn39Lys)
c.876+1604C>A (n.876+1604C>A)
c.807C>A (p.Asn269Lys)
c.534C>A (p.Asn178Lys)
c.703-16651C>A (n.703-16651C>A)
 gnomAD v4
6g.107210506T>ACA365322565PDSS2c.941A>T (p.Asn314Ile)
c.116A>T (p.Asn39Ile)
c.876+1603A>T (n.876+1603A>T)
c.806A>T (p.Asn269Ile)
c.533A>T (p.Asn178Ile)
c.703-16652A>T (n.703-16652A>T)
6g.107210506T>CCA365322566PDSS2c.941A>G (p.Asn314Ser)
c.116A>G (p.Asn39Ser)
c.876+1603A>G (n.876+1603A>G)
c.806A>G (p.Asn269Ser)
c.533A>G (p.Asn178Ser)
c.703-16652A>G (n.703-16652A>G)
6g.107210506T>GCA3945974PDSS2c.941A>C (p.Asn314Thr)
c.116A>C (p.Asn39Thr)
c.876+1603A>C (n.876+1603A>C)
c.806A>C (p.Asn269Thr)
c.533A>C (p.Asn178Thr)
c.703-16652A>C (n.703-16652A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.107210506T=CA1653786357PDSS2c.941A= (p.Asn314=)
c.116A= (p.Asn39=)
c.876+1603A= (n.876+1603A=)
c.806A= (p.Asn269=)
c.533A= (p.Asn178=)
c.703-16652A= (n.703-16652A=)
6g.107210507T>ACA365322567PDSS2c.940A>T (p.Asn314Tyr)
c.115A>T (p.Asn39Tyr)
c.876+1602A>T (n.876+1602A>T)
c.805A>T (p.Asn269Tyr)
c.532A>T (p.Asn178Tyr)
c.703-16653A>T (n.703-16653A>T)
6g.107210507T>CCA365322569PDSS2c.940A>G (p.Asn314Asp)
c.115A>G (p.Asn39Asp)
c.876+1602A>G (n.876+1602A>G)
c.805A>G (p.Asn269Asp)
c.532A>G (p.Asn178Asp)
c.703-16653A>G (n.703-16653A>G)
6g.107210507T>GCA365322568PDSS2c.940A>C (p.Asn314His)
c.115A>C (p.Asn39His)
c.876+1602A>C (n.876+1602A>C)
c.805A>C (p.Asn269His)
c.532A>C (p.Asn178His)
c.703-16653A>C (n.703-16653A>C)
6g.107210508T>ACA451563371PDSS2c.939A>T (p.Leu313=)
c.114A>T (p.Leu38=)
c.876+1601A>T (n.876+1601A>T)
c.804A>T (p.Leu268=)
c.531A>T (p.Leu177=)
c.703-16654A>T (n.703-16654A>T)
6g.107210508T>CCA451563373PDSS2c.939A>G (p.Leu313=)
c.114A>G (p.Leu38=)
c.876+1601A>G (n.876+1601A>G)
c.804A>G (p.Leu268=)
c.531A>G (p.Leu177=)
c.703-16654A>G (n.703-16654A>G)
 COSMIC COSMIC
6g.107210508T>GCA451563372PDSS2c.939A>C (p.Leu313=)
c.114A>C (p.Leu38=)
c.876+1601A>C (n.876+1601A>C)
c.804A>C (p.Leu268=)
c.531A>C (p.Leu177=)
c.703-16654A>C (n.703-16654A>C)
6g.107210509A>CCA365322570PDSS2c.938T>G (p.Leu313Arg)
c.113T>G (p.Leu38Arg)
c.876+1600T>G (n.876+1600T>G)
c.803T>G (p.Leu268Arg)
c.530T>G (p.Leu177Arg)
c.703-16655T>G (n.703-16655T>G)
6g.107210509A>GCA365322571PDSS2c.938T>C (p.Leu313Pro)
c.113T>C (p.Leu38Pro)
c.876+1600T>C (n.876+1600T>C)
c.803T>C (p.Leu268Pro)
c.530T>C (p.Leu177Pro)
c.703-16655T>C (n.703-16655T>C)
6g.107210509A>TCA365322572PDSS2c.938T>A (p.Leu313Gln)
c.113T>A (p.Leu38Gln)
c.876+1600T>A (n.876+1600T>A)
c.803T>A (p.Leu268Gln)
c.530T>A (p.Leu177Gln)
c.703-16655T>A (n.703-16655T>A)
6g.107210510G>ACA451563374PDSS2c.937C>T (p.Leu313=)
c.112C>T (p.Leu38=)
c.876+1599C>T (n.876+1599C>T)
c.802C>T (p.Leu268=)
c.529C>T (p.Leu177=)
c.703-16656C>T (n.703-16656C>T)
6g.107210510G>CCA365322573PDSS2c.937C>G (p.Leu313Val)
c.112C>G (p.Leu38Val)
c.876+1599C>G (n.876+1599C>G)
c.802C>G (p.Leu268Val)
c.529C>G (p.Leu177Val)
c.703-16656C>G (n.703-16656C>G)
6g.107210510G>TCA365322574PDSS2c.937C>A (p.Leu313Ile)
c.112C>A (p.Leu38Ile)
c.876+1599C>A (n.876+1599C>A)
c.802C>A (p.Leu268Ile)
c.529C>A (p.Leu177Ile)
c.703-16656C>A (n.703-16656C>A)
6g.107210511A>CCA365322575PDSS2c.936T>G (p.Asn312Lys)
c.111T>G (p.Asn37Lys)
c.876+1598T>G (n.876+1598T>G)
c.801T>G (p.Asn267Lys)
c.528T>G (p.Asn176Lys)
c.703-16657T>G (n.703-16657T>G)
6g.107210511A>GCA451563375PDSS2c.936T>C (p.Asn312=)
c.111T>C (p.Asn37=)
c.876+1598T>C (n.876+1598T>C)
c.801T>C (p.Asn267=)
c.528T>C (p.Asn176=)
c.703-16657T>C (n.703-16657T>C)
6g.107210511A>TCA365322576PDSS2c.936T>A (p.Asn312Lys)
c.111T>A (p.Asn37Lys)
c.876+1598T>A (n.876+1598T>A)
c.801T>A (p.Asn267Lys)
c.528T>A (p.Asn176Lys)
c.703-16657T>A (n.703-16657T>A)
6g.107210512T>ACA365322577PDSS2c.935A>T (p.Asn312Ile)
c.110A>T (p.Asn37Ile)
c.876+1597A>T (n.876+1597A>T)
c.800A>T (p.Asn267Ile)
c.527A>T (p.Asn176Ile)
c.703-16658A>T (n.703-16658A>T)
6g.107210512T>CCA365322578PDSS2c.935A>G (p.Asn312Ser)
c.110A>G (p.Asn37Ser)
c.876+1597A>G (n.876+1597A>G)
c.800A>G (p.Asn267Ser)
c.527A>G (p.Asn176Ser)
c.703-16658A>G (n.703-16658A>G)
 gnomAD v4
6g.107210512T>GCA365322579PDSS2c.935A>C (p.Asn312Thr)
c.110A>C (p.Asn37Thr)
c.876+1597A>C (n.876+1597A>C)
c.800A>C (p.Asn267Thr)
c.527A>C (p.Asn176Thr)
c.703-16658A>C (n.703-16658A>C)
6g.107210513T>ACA365322582PDSS2c.934A>T (p.Asn312Tyr)
c.109A>T (p.Asn37Tyr)
c.876+1596A>T (n.876+1596A>T)
c.799A>T (p.Asn267Tyr)
c.526A>T (p.Asn176Tyr)
c.703-16659A>T (n.703-16659A>T)
6g.107210513T>CCA365322581PDSS2c.934A>G (p.Asn312Asp)
c.109A>G (p.Asn37Asp)
c.876+1596A>G (n.876+1596A>G)
c.799A>G (p.Asn267Asp)
c.526A>G (p.Asn176Asp)
c.703-16659A>G (n.703-16659A>G)
6g.107210513T>GCA365322580PDSS2c.934A>C (p.Asn312His)
c.109A>C (p.Asn37His)
c.876+1596A>C (n.876+1596A>C)
c.799A>C (p.Asn267His)
c.526A>C (p.Asn176His)
c.703-16659A>C (n.703-16659A>C)
6g.107210513_107210515delinsTAACA1653786358PDSS2c.932_934delinsTTA (p.Phe311=)
c.107_109delinsTTA (p.Phe36=)
c.876+1594_876+1596delinsTTA (n.876+1594_876+1596delinsTTA)
c.797_799delinsTTA (p.Phe266=)
c.524_526delinsTTA (p.Phe175=)
c.703-16661_703-16659delinsTTA (n.703-16661_703-16659delinsTTA)
6g.107210514A>CCA365322583PDSS2c.933T>G (p.Phe311Leu)
c.108T>G (p.Phe36Leu)
c.876+1595T>G (n.876+1595T>G)
c.798T>G (p.Phe266Leu)
c.525T>G (p.Phe175Leu)
c.703-16660T>G (n.703-16660T>G)
6g.107210514A>GCA451563376PDSS2c.933T>C (p.Phe311=)
c.108T>C (p.Phe36=)
c.876+1595T>C (n.876+1595T>C)
c.798T>C (p.Phe266=)
c.525T>C (p.Phe175=)
c.703-16660T>C (n.703-16660T>C)
6g.107210514A>TCA365322584PDSS2c.933T>A (p.Phe311Leu)
c.108T>A (p.Phe36Leu)
c.876+1595T>A (n.876+1595T>A)
c.798T>A (p.Phe266Leu)
c.525T>A (p.Phe175Leu)
c.703-16660T>A (n.703-16660T>A)
 gnomAD v4
6g.107210516_107210517delCA569502039PDSS2c.932_933del (p.Phe311Ter)
c.107_108del (p.Phe36Ter)
c.876+1594_876+1595del (n.876+1594_876+1595del)
c.797_798del (p.Phe266Ter)
c.524_525del (p.Phe175Ter)
c.703-16661_703-16660del (n.703-16661_703-16660del)
 dbSNP gnomAD v2 gnomAD v4
6g.107210515A=CA1653786359PDSS2c.932T= (p.Phe311=)
c.107T= (p.Phe36=)
c.876+1594T= (n.876+1594T=)
c.797T= (p.Phe266=)
c.524T= (p.Phe175=)
c.703-16661T= (n.703-16661T=)
6g.107210515A>CCA365322585PDSS2c.932T>G (p.Phe311Cys)
c.107T>G (p.Phe36Cys)
c.876+1594T>G (n.876+1594T>G)
c.797T>G (p.Phe266Cys)
c.524T>G (p.Phe175Cys)
c.703-16661T>G (n.703-16661T>G)
6g.107210515A>GCA3945975PDSS2c.932T>C (p.Phe311Ser)
c.107T>C (p.Phe36Ser)
c.876+1594T>C (n.876+1594T>C)
c.797T>C (p.Phe266Ser)
c.524T>C (p.Phe175Ser)
c.703-16661T>C (n.703-16661T>C)
 dbSNP ExAC gnomAD v2
6g.107210515A>TCA365322586PDSS2c.932T>A (p.Phe311Tyr)
c.107T>A (p.Phe36Tyr)
c.876+1594T>A (n.876+1594T>A)
c.797T>A (p.Phe266Tyr)
c.524T>A (p.Phe175Tyr)
c.703-16661T>A (n.703-16661T>A)
6g.107210516A>CCA365322587PDSS2c.931T>G (p.Phe311Val)
c.106T>G (p.Phe36Val)
c.876+1593T>G (n.876+1593T>G)
c.796T>G (p.Phe266Val)
c.523T>G (p.Phe175Val)
c.703-16662T>G (n.703-16662T>G)
6g.107210516A>GCA365322588PDSS2c.931T>C (p.Phe311Leu)
c.106T>C (p.Phe36Leu)
c.876+1593T>C (n.876+1593T>C)
c.796T>C (p.Phe266Leu)
c.523T>C (p.Phe175Leu)
c.703-16662T>C (n.703-16662T>C)
6g.107210516A>TCA365322589PDSS2c.931T>A (p.Phe311Ile)
c.106T>A (p.Phe36Ile)
c.876+1593T>A (n.876+1593T>A)
c.796T>A (p.Phe266Ile)
c.523T>A (p.Phe175Ile)
c.703-16662T>A (n.703-16662T>A)
6g.107210517A>CCA451563378PDSS2c.930T>G (p.Thr310=)
c.105T>G (p.Thr35=)
c.876+1592T>G (n.876+1592T>G)
c.795T>G (p.Thr265=)
c.522T>G (p.Thr174=)
c.703-16663T>G (n.703-16663T>G)
6g.107210517A>GCA451563380PDSS2c.930T>C (p.Thr310=)
c.105T>C (p.Thr35=)
c.876+1592T>C (n.876+1592T>C)
c.795T>C (p.Thr265=)
c.522T>C (p.Thr174=)
c.703-16663T>C (n.703-16663T>C)
6g.107210517A>TCA451563379PDSS2c.930T>A (p.Thr310=)
c.105T>A (p.Thr35=)
c.876+1592T>A (n.876+1592T>A)
c.795T>A (p.Thr265=)
c.522T>A (p.Thr174=)
c.703-16663T>A (n.703-16663T>A)
6g.107210518G>ACA365322590PDSS2c.929C>T (p.Thr310Ile)
c.104C>T (p.Thr35Ile)
c.876+1591C>T (n.876+1591C>T)
c.794C>T (p.Thr265Ile)
c.521C>T (p.Thr174Ile)
c.703-16664C>T (n.703-16664C>T)
6g.107210518G>CCA365322591PDSS2c.929C>G (p.Thr310Ser)
c.104C>G (p.Thr35Ser)
c.876+1591C>G (n.876+1591C>G)
c.794C>G (p.Thr265Ser)
c.521C>G (p.Thr174Ser)
c.703-16664C>G (n.703-16664C>G)
 gnomAD v4
6g.107210518G>TCA365322592PDSS2c.929C>A (p.Thr310Asn)
c.104C>A (p.Thr35Asn)
c.876+1591C>A (n.876+1591C>A)
c.794C>A (p.Thr265Asn)
c.521C>A (p.Thr174Asn)
c.703-16664C>A (n.703-16664C>A)
 gnomAD v4
6g.107210519T>ACA365322594PDSS2c.928A>T (p.Thr310Ser)
c.103A>T (p.Thr35Ser)
c.876+1590A>T (n.876+1590A>T)
c.793A>T (p.Thr265Ser)
c.520A>T (p.Thr174Ser)
c.703-16665A>T (n.703-16665A>T)
6g.107210519T>CCA365322595PDSS2c.928A>G (p.Thr310Ala)
c.103A>G (p.Thr35Ala)
c.876+1590A>G (n.876+1590A>G)
c.793A>G (p.Thr265Ala)
c.520A>G (p.Thr174Ala)
c.703-16665A>G (n.703-16665A>G)
6g.107210519T>GCA365322593PDSS2c.928A>C (p.Thr310Pro)
c.103A>C (p.Thr35Pro)
c.876+1590A>C (n.876+1590A>C)
c.793A>C (p.Thr265Pro)
c.520A>C (p.Thr174Pro)
c.703-16665A>C (n.703-16665A>C)
 gnomAD v4
6g.107210520C>ACA365322596PDSS2c.927G>T (p.Met309Ile)
c.102G>T (p.Met34Ile)
c.876+1589G>T (n.876+1589G>T)
c.792G>T (p.Met264Ile)
c.519G>T (p.Met173Ile)
c.703-16666G>T (n.703-16666G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107210520C=CA1653786360PDSS2c.927G= (p.Met309=)
c.102G= (p.Met34=)
c.876+1589G= (n.876+1589G=)
c.792G= (p.Met264=)
c.519G= (p.Met173=)
c.703-16666G= (n.703-16666G=)
6g.107210520C>GCA365322597PDSS2c.927G>C (p.Met309Ile)
c.102G>C (p.Met34Ile)
c.876+1589G>C (n.876+1589G>C)
c.792G>C (p.Met264Ile)
c.519G>C (p.Met173Ile)
c.703-16666G>C (n.703-16666G>C)
 COSMIC COSMIC
6g.107210520C>TCA365322598PDSS2c.927G>A (p.Met309Ile)
c.102G>A (p.Met34Ile)
c.876+1589G>A (n.876+1589G>A)
c.792G>A (p.Met264Ile)
c.519G>A (p.Met173Ile)
c.703-16666G>A (n.703-16666G>A)
6g.107210521A=CA1653786361PDSS2c.926T= (p.Met309=)
c.101T= (p.Met34=)
c.876+1588T= (n.876+1588T=)
c.791T= (p.Met264=)
c.518T= (p.Met173=)
c.703-16667T= (n.703-16667T=)
6g.107210521A>CCA365322599PDSS2c.926T>G (p.Met309Arg)
c.101T>G (p.Met34Arg)
c.876+1588T>G (n.876+1588T>G)
c.791T>G (p.Met264Arg)
c.518T>G (p.Met173Arg)
c.703-16667T>G (n.703-16667T>G)
6g.107210521A>GCA365322600PDSS2c.926T>C (p.Met309Thr)
c.101T>C (p.Met34Thr)
c.876+1588T>C (n.876+1588T>C)
c.791T>C (p.Met264Thr)
c.518T>C (p.Met173Thr)
c.703-16667T>C (n.703-16667T>C)
 dbSNP gnomAD v4
6g.107210521A>TCA365322601PDSS2c.926T>A (p.Met309Lys)
c.101T>A (p.Met34Lys)
c.876+1588T>A (n.876+1588T>A)
c.791T>A (p.Met264Lys)
c.518T>A (p.Met173Lys)
c.703-16667T>A (n.703-16667T>A)
6g.107210522T>ACA365322602PDSS2c.925A>T (p.Met309Leu)
c.100A>T (p.Met34Leu)
c.876+1587A>T (n.876+1587A>T)
c.790A>T (p.Met264Leu)
c.517A>T (p.Met173Leu)
c.703-16668A>T (n.703-16668A>T)
 dbSNP gnomAD v3 gnomAD v4
6g.107210522T>CCA365322603PDSS2c.925A>G (p.Met309Val)
c.100A>G (p.Met34Val)
c.876+1587A>G (n.876+1587A>G)
c.790A>G (p.Met264Val)
c.517A>G (p.Met173Val)
c.703-16668A>G (n.703-16668A>G)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.107210522T>GCA365322604PDSS2c.925A>C (p.Met309Leu)
c.100A>C (p.Met34Leu)
c.876+1587A>C (n.876+1587A>C)
c.790A>C (p.Met264Leu)
c.517A>C (p.Met173Leu)
c.703-16668A>C (n.703-16668A>C)
6g.107210522T=CA1653786362PDSS2c.925A= (p.Met309=)
c.100A= (p.Met34=)
c.876+1587A= (n.876+1587A=)
c.790A= (p.Met264=)
c.517A= (p.Met173=)
c.703-16668A= (n.703-16668A=)
6g.107210522_107210523delinsTGCA1653786363PDSS2c.924_925delinsCA (p.Ser308=)
c.99_100delinsCA (p.Ser33=)
c.876+1586_876+1587delinsCA (n.876+1586_876+1587delinsCA)
c.789_790delinsCA (p.Ser263=)
c.516_517delinsCA (p.Ser172=)
c.703-16669_703-16668delinsCA (n.703-16669_703-16668delinsCA)
6g.107210523G>ACA451563381PDSS2c.924C>T (p.Ser308=)
c.99C>T (p.Ser33=)
c.876+1586C>T (n.876+1586C>T)
c.789C>T (p.Ser263=)
c.516C>T (p.Ser172=)
c.703-16669C>T (n.703-16669C>T)
6g.107210523G>CCA451563382PDSS2c.924C>G (p.Ser308=)
c.99C>G (p.Ser33=)
c.876+1586C>G (n.876+1586C>G)
c.789C>G (p.Ser263=)
c.516C>G (p.Ser172=)
c.703-16669C>G (n.703-16669C>G)
6g.107210523G>TCA451563383PDSS2c.924C>A (p.Ser308=)
c.99C>A (p.Ser33=)
c.876+1586C>A (n.876+1586C>A)
c.789C>A (p.Ser263=)
c.516C>A (p.Ser172=)
c.703-16669C>A (n.703-16669C>A)
6g.107210524delCA816859135PDSS2c.924del (p.Met309Ter)
c.99del (p.Met34Ter)
c.876+1586del (n.876+1586del)
c.789del (p.Met264Ter)
c.516del (p.Met173Ter)
c.703-16669del (n.703-16669del)
 dbSNP
6g.107210524G>ACA365322605PDSS2c.923C>T (p.Ser308Phe)
c.98C>T (p.Ser33Phe)
c.876+1585C>T (n.876+1585C>T)
c.788C>T (p.Ser263Phe)
c.515C>T (p.Ser172Phe)
c.703-16670C>T (n.703-16670C>T)
6g.107210524G>CCA365322606PDSS2c.923C>G (p.Ser308Cys)
c.98C>G (p.Ser33Cys)
c.876+1585C>G (n.876+1585C>G)
c.788C>G (p.Ser263Cys)
c.515C>G (p.Ser172Cys)
c.703-16670C>G (n.703-16670C>G)
6g.107210524G>TCA365322607PDSS2c.923C>A (p.Ser308Tyr)
c.98C>A (p.Ser33Tyr)
c.876+1585C>A (n.876+1585C>A)
c.788C>A (p.Ser263Tyr)
c.515C>A (p.Ser172Tyr)
c.703-16670C>A (n.703-16670C>A)
6g.107210525A=CA1653786364PDSS2c.922T= (p.Ser308=)
c.97T= (p.Ser33=)
c.876+1584T= (n.876+1584T=)
c.787T= (p.Ser263=)
c.514T= (p.Ser172=)
c.703-16671T= (n.703-16671T=)
6g.107210525A>CCA365322609PDSS2c.922T>G (p.Ser308Ala)
c.97T>G (p.Ser33Ala)
c.876+1584T>G (n.876+1584T>G)
c.787T>G (p.Ser263Ala)
c.514T>G (p.Ser172Ala)
c.703-16671T>G (n.703-16671T>G)
6g.107210525A>GCA3945976PDSS2c.922T>C (p.Ser308Pro)
c.97T>C (p.Ser33Pro)
c.876+1584T>C (n.876+1584T>C)
c.787T>C (p.Ser263Pro)
c.514T>C (p.Ser172Pro)
c.703-16671T>C (n.703-16671T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107210525A>TCA365322608PDSS2c.922T>A (p.Ser308Thr)
c.97T>A (p.Ser33Thr)
c.876+1584T>A (n.876+1584T>A)
c.787T>A (p.Ser263Thr)
c.514T>A (p.Ser172Thr)
c.703-16671T>A (n.703-16671T>A)
6g.107210526G>ACA451563384PDSS2c.921C>T (p.Asp307=)
c.96C>T (p.Asp32=)
c.876+1583C>T (n.876+1583C>T)
c.786C>T (p.Asp262=)
c.513C>T (p.Asp171=)
c.703-16672C>T (n.703-16672C>T)
6g.107210526G>CCA365322610PDSS2c.921C>G (p.Asp307Glu)
c.96C>G (p.Asp32Glu)
c.876+1583C>G (n.876+1583C>G)
c.786C>G (p.Asp262Glu)
c.513C>G (p.Asp171Glu)
c.703-16672C>G (n.703-16672C>G)
6g.107210526G>TCA365322611PDSS2c.921C>A (p.Asp307Glu)
c.96C>A (p.Asp32Glu)
c.876+1583C>A (n.876+1583C>A)
c.786C>A (p.Asp262Glu)
c.513C>A (p.Asp171Glu)
c.703-16672C>A (n.703-16672C>A)
6g.107210527T>ACA365322612PDSS2c.920A>T (p.Asp307Val)
c.95A>T (p.Asp32Val)
c.876+1582A>T (n.876+1582A>T)
c.785A>T (p.Asp262Val)
c.512A>T (p.Asp171Val)
c.703-16673A>T (n.703-16673A>T)
6g.107210527T>CCA365322613PDSS2c.920A>G (p.Asp307Gly)
c.95A>G (p.Asp32Gly)
c.876+1582A>G (n.876+1582A>G)
c.785A>G (p.Asp262Gly)
c.512A>G (p.Asp171Gly)
c.703-16673A>G (n.703-16673A>G)
6g.107210527T>GCA365322614PDSS2c.920A>C (p.Asp307Ala)
c.95A>C (p.Asp32Ala)
c.876+1582A>C (n.876+1582A>C)
c.785A>C (p.Asp262Ala)
c.512A>C (p.Asp171Ala)
c.703-16673A>C (n.703-16673A>C)
6g.107210528C>ACA365322617PDSS2c.919G>T (p.Asp307Tyr)
c.94G>T (p.Asp32Tyr)
c.876+1581G>T (n.876+1581G>T)
c.784G>T (p.Asp262Tyr)
c.511G>T (p.Asp171Tyr)
c.703-16674G>T (n.703-16674G>T)
6g.107210528C=CA1653786365PDSS2c.919G= (p.Asp307=)
c.94G= (p.Asp32=)
c.876+1581G= (n.876+1581G=)
c.784G= (p.Asp262=)
c.511G= (p.Asp171=)
c.703-16674G= (n.703-16674G=)
6g.107210528C>GCA365322615PDSS2c.919G>C (p.Asp307His)
c.94G>C (p.Asp32His)
c.876+1581G>C (n.876+1581G>C)
c.784G>C (p.Asp262His)
c.511G>C (p.Asp171His)
c.703-16674G>C (n.703-16674G>C)
6g.107210528C>TCA365322616PDSS2c.919G>A (p.Asp307Asn)
c.94G>A (p.Asp32Asn)
c.876+1581G>A (n.876+1581G>A)
c.784G>A (p.Asp262Asn)
c.511G>A (p.Asp171Asn)
c.703-16674G>A (n.703-16674G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.107210529A>CCA365322618PDSS2c.918T>G (p.Ser306Arg)
c.93T>G (p.Ser31Arg)
c.876+1580T>G (n.876+1580T>G)
c.783T>G (p.Ser261Arg)
c.510T>G (p.Ser170Arg)
c.703-16675T>G (n.703-16675T>G)
 gnomAD v4
6g.107210529A>GCA451563386PDSS2c.918T>C (p.Ser306=)
c.93T>C (p.Ser31=)
c.876+1580T>C (n.876+1580T>C)
c.783T>C (p.Ser261=)
c.510T>C (p.Ser170=)
c.703-16675T>C (n.703-16675T>C)
6g.107210529A>TCA365322619PDSS2c.918T>A (p.Ser306Arg)
c.93T>A (p.Ser31Arg)
c.876+1580T>A (n.876+1580T>A)
c.783T>A (p.Ser261Arg)
c.510T>A (p.Ser170Arg)
c.703-16675T>A (n.703-16675T>A)
6g.107210530C>ACA365322620PDSS2c.917G>T (p.Ser306Ile)
c.92G>T (p.Ser31Ile)
c.876+1579G>T (n.876+1579G>T)
c.782G>T (p.Ser261Ile)
c.509G>T (p.Ser170Ile)
c.703-16676G>T (n.703-16676G>T)
6g.107210530C>GCA365322621PDSS2c.917G>C (p.Ser306Thr)
c.92G>C (p.Ser31Thr)
c.876+1579G>C (n.876+1579G>C)
c.782G>C (p.Ser261Thr)
c.509G>C (p.Ser170Thr)
c.703-16676G>C (n.703-16676G>C)
 gnomAD v4
6g.107210530C>TCA365322622PDSS2c.917G>A (p.Ser306Asn)
c.92G>A (p.Ser31Asn)
c.876+1579G>A (n.876+1579G>A)
c.782G>A (p.Ser261Asn)
c.509G>A (p.Ser170Asn)
c.703-16676G>A (n.703-16676G>A)
6g.107210532_107210536delCA2679872483PDSS2c.913_917del (p.Thr305Ter)
c.88_92del (p.Thr30Ter)
c.876+1575_876+1579del (n.876+1575_876+1579del)
c.778_782del (p.Thr260Ter)
c.505_509del (p.Thr169Ter)
c.703-16680_703-16676del (n.703-16680_703-16676del)
 gnomAD v4
6g.107210531T>ACA365322624PDSS2c.916A>T (p.Ser306Cys)
c.91A>T (p.Ser31Cys)
c.876+1578A>T (n.876+1578A>T)
c.781A>T (p.Ser261Cys)
c.508A>T (p.Ser170Cys)
c.703-16677A>T (n.703-16677A>T)
 gnomAD v4
6g.107210531T>CCA365322623PDSS2c.916A>G (p.Ser306Gly)
c.91A>G (p.Ser31Gly)
c.876+1578A>G (n.876+1578A>G)
c.781A>G (p.Ser261Gly)
c.508A>G (p.Ser170Gly)
c.703-16677A>G (n.703-16677A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107210531T>GCA3945977PDSS2c.916A>C (p.Ser306Arg)
c.91A>C (p.Ser31Arg)
c.876+1578A>C (n.876+1578A>C)
c.781A>C (p.Ser261Arg)
c.508A>C (p.Ser170Arg)
c.703-16677A>C (n.703-16677A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107210531T=CA1653786366PDSS2c.916A= (p.Ser306=)
c.91A= (p.Ser31=)
c.876+1578A= (n.876+1578A=)
c.781A= (p.Ser261=)
c.508A= (p.Ser170=)
c.703-16677A= (n.703-16677A=)
6g.107210532G>ACA16605002PDSS2c.915C>T (p.Thr305=)
c.90C>T (p.Thr30=)
c.876+1577C>T (n.876+1577C>T)
c.780C>T (p.Thr260=)
c.507C>T (p.Thr169=)
c.703-16678C>T (n.703-16678C>T)
 ClinVar dbSNP
6g.107210532G>CCA451563388PDSS2c.915C>G (p.Thr305=)
c.90C>G (p.Thr30=)
c.876+1577C>G (n.876+1577C>G)
c.780C>G (p.Thr260=)
c.507C>G (p.Thr169=)
c.703-16678C>G (n.703-16678C>G)
6g.107210532G=CA1653786367PDSS2c.915C= (p.Thr305=)
c.90C= (p.Thr30=)
c.876+1577C= (n.876+1577C=)
c.780C= (p.Thr260=)
c.507C= (p.Thr169=)
c.703-16678C= (n.703-16678C=)
6g.107210532G>TCA451563387PDSS2c.915C>A (p.Thr305=)
c.90C>A (p.Thr30=)
c.876+1577C>A (n.876+1577C>A)
c.780C>A (p.Thr260=)
c.507C>A (p.Thr169=)
c.703-16678C>A (n.703-16678C>A)
 gnomAD v4
6g.107210533G>ACA365322625PDSS2c.914C>T (p.Thr305Ile)
c.89C>T (p.Thr30Ile)
c.876+1576C>T (n.876+1576C>T)
c.779C>T (p.Thr260Ile)
c.506C>T (p.Thr169Ile)
c.703-16679C>T (n.703-16679C>T)
 gnomAD v4
6g.107210533G>CCA3945978PDSS2c.914C>G (p.Thr305Ser)
c.89C>G (p.Thr30Ser)
c.876+1576C>G (n.876+1576C>G)
c.779C>G (p.Thr260Ser)
c.506C>G (p.Thr169Ser)
c.703-16679C>G (n.703-16679C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107210533G=CA1653786368PDSS2c.914C= (p.Thr305=)
c.89C= (p.Thr30=)
c.876+1576C= (n.876+1576C=)
c.779C= (p.Thr260=)
c.506C= (p.Thr169=)
c.703-16679C= (n.703-16679C=)
6g.107210533G>TCA365322626PDSS2c.914C>A (p.Thr305Asn)
c.89C>A (p.Thr30Asn)
c.876+1576C>A (n.876+1576C>A)
c.779C>A (p.Thr260Asn)
c.506C>A (p.Thr169Asn)
c.703-16679C>A (n.703-16679C>A)
 gnomAD v4
6g.107210534T>ACA365322627PDSS2c.913A>T (p.Thr305Ser)
c.88A>T (p.Thr30Ser)
c.876+1575A>T (n.876+1575A>T)
c.778A>T (p.Thr260Ser)
c.505A>T (p.Thr169Ser)
c.703-16680A>T (n.703-16680A>T)
6g.107210534T>CCA365322628PDSS2c.913A>G (p.Thr305Ala)
c.88A>G (p.Thr30Ala)
c.876+1575A>G (n.876+1575A>G)
c.778A>G (p.Thr260Ala)
c.505A>G (p.Thr169Ala)
c.703-16680A>G (n.703-16680A>G)
6g.107210534T>GCA365322629PDSS2c.913A>C (p.Thr305Pro)
c.88A>C (p.Thr30Pro)
c.876+1575A>C (n.876+1575A>C)
c.778A>C (p.Thr260Pro)
c.505A>C (p.Thr169Pro)
c.703-16680A>C (n.703-16680A>C)
6g.107210539_107210543delCA2538433239PDSS2c.909_913del (p.Glu303AspfsTer3)
c.84_88del (p.Glu28AspfsTer3)
c.876+1571_876+1575del (n.876+1571_876+1575del)
c.774_778del (p.Glu258AspfsTer3)
c.501_505del (p.Glu167AspfsTer3)
c.703-16684_703-16680del (n.703-16684_703-16680del)
6g.107210535C>ACA145597788PDSS2c.912G>T (p.Lys304Asn)
c.87G>T (p.Lys29Asn)
c.876+1574G>T (n.876+1574G>T)
c.777G>T (p.Lys259Asn)
c.504G>T (p.Lys168Asn)
c.703-16681G>T (n.703-16681G>T)
 dbSNP
6g.107210535C=CA1653786369PDSS2c.912G= (p.Lys304=)
c.87G= (p.Lys29=)
c.876+1574G= (n.876+1574G=)
c.777G= (p.Lys259=)
c.504G= (p.Lys168=)
c.703-16681G= (n.703-16681G=)
6g.107210535C>GCA365322630PDSS2c.912G>C (p.Lys304Asn)
c.87G>C (p.Lys29Asn)
c.876+1574G>C (n.876+1574G>C)
c.777G>C (p.Lys259Asn)
c.504G>C (p.Lys168Asn)
c.703-16681G>C (n.703-16681G>C)
6g.107210535C>TCA451563389PDSS2c.912G>A (p.Lys304=)
c.87G>A (p.Lys29=)
c.876+1574G>A (n.876+1574G>A)
c.777G>A (p.Lys259=)
c.504G>A (p.Lys168=)
c.703-16681G>A (n.703-16681G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.107210536T>ACA365322631PDSS2c.911A>T (p.Lys304Met)
c.86A>T (p.Lys29Met)
c.876+1573A>T (n.876+1573A>T)
c.776A>T (p.Lys259Met)
c.503A>T (p.Lys168Met)
c.703-16682A>T (n.703-16682A>T)
6g.107210536T>CCA365322632PDSS2c.911A>G (p.Lys304Arg)
c.86A>G (p.Lys29Arg)
c.876+1573A>G (n.876+1573A>G)
c.776A>G (p.Lys259Arg)
c.503A>G (p.Lys168Arg)
c.703-16682A>G (n.703-16682A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.107210536T>GCA365322633PDSS2c.911A>C (p.Lys304Thr)
c.86A>C (p.Lys29Thr)
c.876+1573A>C (n.876+1573A>C)
c.776A>C (p.Lys259Thr)
c.503A>C (p.Lys168Thr)
c.703-16682A>C (n.703-16682A>C)
6g.107210536T=CA1653786370PDSS2c.911A= (p.Lys304=)
c.86A= (p.Lys29=)
c.876+1573A= (n.876+1573A=)
c.776A= (p.Lys259=)
c.503A= (p.Lys168=)
c.703-16682A= (n.703-16682A=)
6g.107210537T>ACA365322634PDSS2c.910A>T (p.Lys304Ter)
c.85A>T (p.Lys29Ter)
c.876+1572A>T (n.876+1572A>T)
c.775A>T (p.Lys259Ter)
c.502A>T (p.Lys168Ter)
c.703-16683A>T (n.703-16683A>T)
6g.107210537T>CCA365322635PDSS2c.910A>G (p.Lys304Glu)
c.85A>G (p.Lys29Glu)
c.876+1572A>G (n.876+1572A>G)
c.775A>G (p.Lys259Glu)
c.502A>G (p.Lys168Glu)
c.703-16683A>G (n.703-16683A>G)
6g.107210537T>GCA365322636PDSS2c.910A>C (p.Lys304Gln)
c.85A>C (p.Lys29Gln)
c.876+1572A>C (n.876+1572A>C)
c.775A>C (p.Lys259Gln)
c.502A>C (p.Lys168Gln)
c.703-16683A>C (n.703-16683A>C)
6g.107210538T>ACA365322637PDSS2c.909A>T (p.Glu303Asp)
c.84A>T (p.Glu28Asp)
c.876+1571A>T (n.876+1571A>T)
c.774A>T (p.Glu258Asp)
c.501A>T (p.Glu167Asp)
c.703-16684A>T (n.703-16684A>T)
6g.107210538T>CCA451563390PDSS2c.909A>G (p.Glu303=)
c.84A>G (p.Glu28=)
c.876+1571A>G (n.876+1571A>G)
c.774A>G (p.Glu258=)
c.501A>G (p.Glu167=)
c.703-16684A>G (n.703-16684A>G)
6g.107210538T>GCA365322638PDSS2c.909A>C (p.Glu303Asp)
c.84A>C (p.Glu28Asp)
c.876+1571A>C (n.876+1571A>C)
c.774A>C (p.Glu258Asp)
c.501A>C (p.Glu167Asp)
c.703-16684A>C (n.703-16684A>C)
6g.107210539T>ACA365322639PDSS2c.908A>T (p.Glu303Val)
c.83A>T (p.Glu28Val)
c.876+1570A>T (n.876+1570A>T)
c.773A>T (p.Glu258Val)
c.500A>T (p.Glu167Val)
c.703-16685A>T (n.703-16685A>T)
6g.107210539T>CCA3945979PDSS2c.908A>G (p.Glu303Gly)
c.83A>G (p.Glu28Gly)
c.876+1570A>G (n.876+1570A>G)
c.773A>G (p.Glu258Gly)
c.500A>G (p.Glu167Gly)
c.703-16685A>G (n.703-16685A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107210539T>GCA365322640PDSS2c.908A>C (p.Glu303Ala)
c.83A>C (p.Glu28Ala)
c.876+1570A>C (n.876+1570A>C)
c.773A>C (p.Glu258Ala)
c.500A>C (p.Glu167Ala)
c.703-16685A>C (n.703-16685A>C)
6g.107210539T=CA1653786371PDSS2c.908A= (p.Glu303=)
c.83A= (p.Glu28=)
c.876+1570A= (n.876+1570A=)
c.773A= (p.Glu258=)
c.500A= (p.Glu167=)
c.703-16685A= (n.703-16685A=)
6g.107210540C>ACA365322641PDSS2c.907G>T (p.Glu303Ter)
c.82G>T (p.Glu28Ter)
c.876+1569G>T (n.876+1569G>T)
c.772G>T (p.Glu258Ter)
c.499G>T (p.Glu167Ter)
c.703-16686G>T (n.703-16686G>T)
6g.107210540C>GCA365322642PDSS2c.907G>C (p.Glu303Gln)
c.82G>C (p.Glu28Gln)
c.876+1569G>C (n.876+1569G>C)
c.772G>C (p.Glu258Gln)
c.499G>C (p.Glu167Gln)
c.703-16686G>C (n.703-16686G>C)
 gnomAD v4
6g.107210540C>TCA365322643PDSS2c.907G>A (p.Glu303Lys)
c.82G>A (p.Glu28Lys)
c.876+1569G>A (n.876+1569G>A)
c.772G>A (p.Glu258Lys)
c.499G>A (p.Glu167Lys)
c.703-16686G>A (n.703-16686G>A)
 COSMIC COSMIC
6g.107210541T>ACA365322644PDSS2c.906A>T (p.Lys302Asn)
c.81A>T (p.Lys27Asn)
c.876+1568A>T (n.876+1568A>T)
c.771A>T (p.Lys257Asn)
c.498A>T (p.Lys166Asn)
c.703-16687A>T (n.703-16687A>T)
6g.107210541T>CCA451563391PDSS2c.906A>G (p.Lys302=)
c.81A>G (p.Lys27=)
c.876+1568A>G (n.876+1568A>G)
c.771A>G (p.Lys257=)
c.498A>G (p.Lys166=)
c.703-16687A>G (n.703-16687A>G)
6g.107210541T>GCA365322645PDSS2c.906A>C (p.Lys302Asn)
c.81A>C (p.Lys27Asn)
c.876+1568A>C (n.876+1568A>C)
c.771A>C (p.Lys257Asn)
c.498A>C (p.Lys166Asn)
c.703-16687A>C (n.703-16687A>C)
6g.107210542T>ACA365322646PDSS2c.905A>T (p.Lys302Ile)
c.80A>T (p.Lys27Ile)
c.876+1567A>T (n.876+1567A>T)
c.770A>T (p.Lys257Ile)
c.497A>T (p.Lys166Ile)
c.703-16688A>T (n.703-16688A>T)
 dbSNP gnomAD v2 gnomAD v4
6g.107210542T>CCA365322647PDSS2c.905A>G (p.Lys302Arg)
c.80A>G (p.Lys27Arg)
c.876+1567A>G (n.876+1567A>G)
c.770A>G (p.Lys257Arg)
c.497A>G (p.Lys166Arg)
c.703-16688A>G (n.703-16688A>G)
6g.107210542T>GCA365322648PDSS2c.905A>C (p.Lys302Thr)
c.80A>C (p.Lys27Thr)
c.876+1567A>C (n.876+1567A>C)
c.770A>C (p.Lys257Thr)
c.497A>C (p.Lys166Thr)
c.703-16688A>C (n.703-16688A>C)
6g.107210542T=CA1653786372PDSS2c.905A= (p.Lys302=)
c.80A= (p.Lys27=)
c.876+1567A= (n.876+1567A=)
c.770A= (p.Lys257=)
c.497A= (p.Lys166=)
c.703-16688A= (n.703-16688A=)
6g.107210543T>ACA365322649PDSS2c.904A>T (p.Lys302Ter)
c.79A>T (p.Lys27Ter)
c.876+1566A>T (n.876+1566A>T)
c.769A>T (p.Lys257Ter)
c.496A>T (p.Lys166Ter)
c.703-16689A>T (n.703-16689A>T)
6g.107210543T>CCA365322650PDSS2c.904A>G (p.Lys302Glu)
c.79A>G (p.Lys27Glu)
c.876+1566A>G (n.876+1566A>G)
c.769A>G (p.Lys257Glu)
c.496A>G (p.Lys166Glu)
c.703-16689A>G (n.703-16689A>G)
6g.107210543T>GCA365322651PDSS2c.904A>C (p.Lys302Gln)
c.79A>C (p.Lys27Gln)
c.876+1566A>C (n.876+1566A>C)
c.769A>C (p.Lys257Gln)
c.496A>C (p.Lys166Gln)
c.703-16689A>C (n.703-16689A>C)
6g.107210544A>CCA365322652PDSS2c.903T>G (p.Ile301Met)
c.78T>G (p.Ile26Met)
c.876+1565T>G (n.876+1565T>G)
c.768T>G (p.Ile256Met)
c.495T>G (p.Ile165Met)
c.703-16690T>G (n.703-16690T>G)
6g.107210544A>GCA451563392PDSS2c.903T>C (p.Ile301=)
c.78T>C (p.Ile26=)
c.876+1565T>C (n.876+1565T>C)
c.768T>C (p.Ile256=)
c.495T>C (p.Ile165=)
c.703-16690T>C (n.703-16690T>C)
6g.107210544A>TCA451563393PDSS2c.903T>A (p.Ile301=)
c.78T>A (p.Ile26=)
c.876+1565T>A (n.876+1565T>A)
c.768T>A (p.Ile256=)
c.495T>A (p.Ile165=)
c.703-16690T>A (n.703-16690T>A)
6g.107210545A=CA1653786373PDSS2c.902T= (p.Ile301=)
c.77T= (p.Ile26=)
c.876+1564T= (n.876+1564T=)
c.767T= (p.Ile256=)
c.494T= (p.Ile165=)
c.703-16691T= (n.703-16691T=)
6g.107210545A>CCA365322654PDSS2c.902T>G (p.Ile301Ser)
c.77T>G (p.Ile26Ser)
c.876+1564T>G (n.876+1564T>G)
c.767T>G (p.Ile256Ser)
c.494T>G (p.Ile165Ser)
c.703-16691T>G (n.703-16691T>G)
6g.107210545A>GCA3945980PDSS2c.902T>C (p.Ile301Thr)
c.77T>C (p.Ile26Thr)
c.876+1564T>C (n.876+1564T>C)
c.767T>C (p.Ile256Thr)
c.494T>C (p.Ile165Thr)
c.703-16691T>C (n.703-16691T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107210545A>TCA365322653PDSS2c.902T>A (p.Ile301Asn)
c.77T>A (p.Ile26Asn)
c.876+1564T>A (n.876+1564T>A)
c.767T>A (p.Ile256Asn)
c.494T>A (p.Ile165Asn)
c.703-16691T>A (n.703-16691T>A)
6g.107210546T>ACA365322655PDSS2c.901A>T (p.Ile301Phe)
c.76A>T (p.Ile26Phe)
c.876+1563A>T (n.876+1563A>T)
c.766A>T (p.Ile256Phe)
c.493A>T (p.Ile165Phe)
c.703-16692A>T (n.703-16692A>T)
6g.107210546T>CCA3945981PDSS2c.901A>G (p.Ile301Val)
c.76A>G (p.Ile26Val)
c.876+1563A>G (n.876+1563A>G)
c.766A>G (p.Ile256Val)
c.493A>G (p.Ile165Val)
c.703-16692A>G (n.703-16692A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107210546T>GCA365322656PDSS2c.901A>C (p.Ile301Leu)
c.76A>C (p.Ile26Leu)
c.876+1563A>C (n.876+1563A>C)
c.766A>C (p.Ile256Leu)
c.493A>C (p.Ile165Leu)
c.703-16692A>C (n.703-16692A>C)
6g.107210546T=CA1653786374PDSS2c.901A= (p.Ile301=)
c.76A= (p.Ile26=)
c.876+1563A= (n.876+1563A=)
c.766A= (p.Ile256=)
c.493A= (p.Ile165=)
c.703-16692A= (n.703-16692A=)
6g.107210547A>CCA365322657PDSS2c.900T>G (p.Phe300Leu)
c.75T>G (p.Phe25Leu)
c.876+1562T>G (n.876+1562T>G)
c.765T>G (p.Phe255Leu)
c.492T>G (p.Phe164Leu)
c.703-16693T>G (n.703-16693T>G)
6g.107210547A>GCA451563394PDSS2c.900T>C (p.Phe300=)
c.75T>C (p.Phe25=)
c.876+1562T>C (n.876+1562T>C)
c.765T>C (p.Phe255=)
c.492T>C (p.Phe164=)
c.703-16693T>C (n.703-16693T>C)
6g.107210547A>TCA365322658PDSS2c.900T>A (p.Phe300Leu)
c.75T>A (p.Phe25Leu)
c.876+1562T>A (n.876+1562T>A)
c.765T>A (p.Phe255Leu)
c.492T>A (p.Phe164Leu)
c.703-16693T>A (n.703-16693T>A)
6g.107210550delCA2578705077PDSS2c.900del (p.Phe300LeufsTer10)
c.75del (p.Phe25LeufsTer10)
c.876+1562del (n.876+1562del)
c.765del (p.Phe255LeufsTer10)
c.492del (p.Phe164LeufsTer10)
c.703-16693del (n.703-16693del)
 gnomAD v4
6g.107210548A>CCA365322659PDSS2c.899T>G (p.Phe300Cys)
c.74T>G (p.Phe25Cys)
c.876+1561T>G (n.876+1561T>G)
c.764T>G (p.Phe255Cys)
c.491T>G (p.Phe164Cys)
c.703-16694T>G (n.703-16694T>G)
6g.107210548A>GCA365322660PDSS2c.899T>C (p.Phe300Ser)
c.74T>C (p.Phe25Ser)
c.876+1561T>C (n.876+1561T>C)
c.764T>C (p.Phe255Ser)
c.491T>C (p.Phe164Ser)
c.703-16694T>C (n.703-16694T>C)
6g.107210548A>TCA365322661PDSS2c.899T>A (p.Phe300Tyr)
c.74T>A (p.Phe25Tyr)
c.876+1561T>A (n.876+1561T>A)
c.764T>A (p.Phe255Tyr)
c.491T>A (p.Phe164Tyr)
c.703-16694T>A (n.703-16694T>A)
6g.107210549A=CA1653786375PDSS2c.898T= (p.Phe300=)
c.73T= (p.Phe25=)
c.876+1560T= (n.876+1560T=)
c.763T= (p.Phe255=)
c.490T= (p.Phe164=)
c.703-16695T= (n.703-16695T=)
6g.107210549A>CCA365322662PDSS2c.898T>G (p.Phe300Val)
c.73T>G (p.Phe25Val)
c.876+1560T>G (n.876+1560T>G)
c.763T>G (p.Phe255Val)
c.490T>G (p.Phe164Val)
c.703-16695T>G (n.703-16695T>G)
6g.107210549A>GCA3945982PDSS2c.898T>C (p.Phe300Leu)
c.73T>C (p.Phe25Leu)
c.876+1560T>C (n.876+1560T>C)
c.763T>C (p.Phe255Leu)
c.490T>C (p.Phe164Leu)
c.703-16695T>C (n.703-16695T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107210549A>TCA365322663PDSS2c.898T>A (p.Phe300Ile)
c.73T>A (p.Phe25Ile)
c.876+1560T>A (n.876+1560T>A)
c.763T>A (p.Phe255Ile)
c.490T>A (p.Phe164Ile)
c.703-16695T>A (n.703-16695T>A)
6g.107210549_107210567dupCA2772513263PDSS2c.880_898dup (p.Phe300Ter)
c.55_73dup (p.Phe25Ter)
c.876+1542_876+1560dup (n.876+1542_876+1560dup)
c.745_763dup (p.Phe255Ter)
c.472_490dup (p.Phe164Ter)
c.703-16713_703-16695dup (n.703-16713_703-16695dup)
6g.107210550A>CCA451563395PDSS2c.897T>G (p.Pro299=)
c.72T>G (p.Pro24=)
c.876+1559T>G (n.876+1559T>G)
c.762T>G (p.Pro254=)
c.489T>G (p.Pro163=)
c.703-16696T>G (n.703-16696T>G)
6g.107210550A>GCA451563396PDSS2c.897T>C (p.Pro299=)
c.72T>C (p.Pro24=)
c.876+1559T>C (n.876+1559T>C)
c.762T>C (p.Pro254=)
c.489T>C (p.Pro163=)
c.703-16696T>C (n.703-16696T>C)
6g.107210550A>TCA451563397PDSS2c.897T>A (p.Pro299=)
c.72T>A (p.Pro24=)
c.876+1559T>A (n.876+1559T>A)
c.762T>A (p.Pro254=)
c.489T>A (p.Pro163=)
c.703-16696T>A (n.703-16696T>A)
6g.107210551G>ACA365322666PDSS2c.896C>T (p.Pro299Leu)
c.71C>T (p.Pro24Leu)
c.876+1558C>T (n.876+1558C>T)
c.761C>T (p.Pro254Leu)
c.488C>T (p.Pro163Leu)
c.703-16697C>T (n.703-16697C>T)
6g.107210551G>CCA365322664PDSS2c.896C>G (p.Pro299Arg)
c.71C>G (p.Pro24Arg)
c.876+1558C>G (n.876+1558C>G)
c.761C>G (p.Pro254Arg)
c.488C>G (p.Pro163Arg)
c.703-16697C>G (n.703-16697C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.107210551G=CA1653786376PDSS2c.896C= (p.Pro299=)
c.71C= (p.Pro24=)
c.876+1558C= (n.876+1558C=)
c.761C= (p.Pro254=)
c.488C= (p.Pro163=)
c.703-16697C= (n.703-16697C=)
6g.107210551G>TCA365322665PDSS2c.896C>A (p.Pro299His)
c.71C>A (p.Pro24His)
c.876+1558C>A (n.876+1558C>A)
c.761C>A (p.Pro254His)
c.488C>A (p.Pro163His)
c.703-16697C>A (n.703-16697C>A)
 gnomAD v4
6g.107210552G>ACA365322667PDSS2c.895C>T (p.Pro299Ser)
c.70C>T (p.Pro24Ser)
c.876+1557C>T (n.876+1557C>T)
c.760C>T (p.Pro254Ser)
c.487C>T (p.Pro163Ser)
c.703-16698C>T (n.703-16698C>T)
 gnomAD v4
6g.107210552G>CCA365322668PDSS2c.895C>G (p.Pro299Ala)
c.70C>G (p.Pro24Ala)
c.876+1557C>G (n.876+1557C>G)
c.760C>G (p.Pro254Ala)
c.487C>G (p.Pro163Ala)
c.703-16698C>G (n.703-16698C>G)
6g.107210552G=CA1653786377PDSS2c.895C= (p.Pro299=)
c.70C= (p.Pro24=)
c.876+1557C= (n.876+1557C=)
c.760C= (p.Pro254=)
c.487C= (p.Pro163=)
c.703-16698C= (n.703-16698C=)
6g.107210552G>TCA365322669PDSS2c.895C>A (p.Pro299Thr)
c.70C>A (p.Pro24Thr)
c.876+1557C>A (n.876+1557C>A)
c.760C>A (p.Pro254Thr)
c.487C>A (p.Pro163Thr)
c.703-16698C>A (n.703-16698C>A)
 dbSNP gnomAD v2 gnomAD v4
6g.107210553C>ACA365322670PDSS2c.894G>T (p.Gln298His)
c.69G>T (p.Gln23His)
c.876+1556G>T (n.876+1556G>T)
c.759G>T (p.Gln253His)
c.486G>T (p.Gln162His)
c.703-16699G>T (n.703-16699G>T)
6g.107210553C>GCA365322671PDSS2c.894G>C (p.Gln298His)
c.69G>C (p.Gln23His)
c.876+1556G>C (n.876+1556G>C)
c.759G>C (p.Gln253His)
c.486G>C (p.Gln162His)
c.703-16699G>C (n.703-16699G>C)
6g.107210553C>TCA451563399PDSS2c.894G>A (p.Gln298=)
c.69G>A (p.Gln23=)
c.876+1556G>A (n.876+1556G>A)
c.759G>A (p.Gln253=)
c.486G>A (p.Gln162=)
c.703-16699G>A (n.703-16699G>A)
6g.107210554T>ACA365322672PDSS2c.893A>T (p.Gln298Leu)
c.68A>T (p.Gln23Leu)
c.876+1555A>T (n.876+1555A>T)
c.758A>T (p.Gln253Leu)
c.485A>T (p.Gln162Leu)
c.703-16700A>T (n.703-16700A>T)
6g.107210554T>CCA365322673PDSS2c.893A>G (p.Gln298Arg)
c.68A>G (p.Gln23Arg)
c.876+1555A>G (n.876+1555A>G)
c.758A>G (p.Gln253Arg)
c.485A>G (p.Gln162Arg)
c.703-16700A>G (n.703-16700A>G)
6g.107210554T>GCA365322674PDSS2c.893A>C (p.Gln298Pro)
c.68A>C (p.Gln23Pro)
c.876+1555A>C (n.876+1555A>C)
c.758A>C (p.Gln253Pro)
c.485A>C (p.Gln162Pro)
c.703-16700A>C (n.703-16700A>C)
6g.107210555G>ACA365322675PDSS2c.892C>T (p.Gln298Ter)
c.67C>T (p.Gln23Ter)
c.876+1554C>T (n.876+1554C>T)
c.757C>T (p.Gln253Ter)
c.484C>T (p.Gln162Ter)
c.703-16701C>T (n.703-16701C>T)
 gnomAD v4
6g.107210555G>CCA365322676PDSS2c.892C>G (p.Gln298Glu)
c.67C>G (p.Gln23Glu)
c.876+1554C>G (n.876+1554C>G)
c.757C>G (p.Gln253Glu)
c.484C>G (p.Gln162Glu)
c.703-16701C>G (n.703-16701C>G)
6g.107210555G>TCA365322677PDSS2c.892C>A (p.Gln298Lys)
c.67C>A (p.Gln23Lys)
c.876+1554C>A (n.876+1554C>A)
c.757C>A (p.Gln253Lys)
c.484C>A (p.Gln162Lys)
c.703-16701C>A (n.703-16701C>A)
 gnomAD v4
6g.107210556G>ACA451563402PDSS2c.891C>T (p.Val297=)
c.66C>T (p.Val22=)
c.876+1553C>T (n.876+1553C>T)
c.756C>T (p.Val252=)
c.483C>T (p.Val161=)
c.703-16702C>T (n.703-16702C>T)
6g.107210556G>CCA451563403PDSS2c.891C>G (p.Val297=)
c.66C>G (p.Val22=)
c.876+1553C>G (n.876+1553C>G)
c.756C>G (p.Val252=)
c.483C>G (p.Val161=)
c.703-16702C>G (n.703-16702C>G)
6g.107210556G>TCA451563404PDSS2c.891C>A (p.Val297=)
c.66C>A (p.Val22=)
c.876+1553C>A (n.876+1553C>A)
c.756C>A (p.Val252=)
c.483C>A (p.Val161=)
c.703-16702C>A (n.703-16702C>A)
 gnomAD v4
6g.107210557A=CA1653786378PDSS2c.890T= (p.Val297=)
c.65T= (p.Val22=)
c.876+1552T= (n.876+1552T=)
c.755T= (p.Val252=)
c.482T= (p.Val161=)
c.703-16703T= (n.703-16703T=)
6g.107210557A>CCA365322679PDSS2c.890T>G (p.Val297Gly)
c.65T>G (p.Val22Gly)
c.876+1552T>G (n.876+1552T>G)
c.755T>G (p.Val252Gly)
c.482T>G (p.Val161Gly)
c.703-16703T>G (n.703-16703T>G)
6g.107210557A>GCA3945983PDSS2c.890T>C (p.Val297Ala)
c.65T>C (p.Val22Ala)
c.876+1552T>C (n.876+1552T>C)
c.755T>C (p.Val252Ala)
c.482T>C (p.Val161Ala)
c.703-16703T>C (n.703-16703T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107210557A>TCA365322678PDSS2c.890T>A (p.Val297Asp)
c.65T>A (p.Val22Asp)
c.876+1552T>A (n.876+1552T>A)
c.755T>A (p.Val252Asp)
c.482T>A (p.Val161Asp)
c.703-16703T>A (n.703-16703T>A)
 gnomAD v4
6g.107210558C>ACA365322680PDSS2c.889G>T (p.Val297Phe)
c.64G>T (p.Val22Phe)
c.876+1551G>T (n.876+1551G>T)
c.754G>T (p.Val252Phe)
c.481G>T (p.Val161Phe)
c.703-16704G>T (n.703-16704G>T)
6g.107210558C>GCA365322682PDSS2c.889G>C (p.Val297Leu)
c.64G>C (p.Val22Leu)
c.876+1551G>C (n.876+1551G>C)
c.754G>C (p.Val252Leu)
c.481G>C (p.Val161Leu)
c.703-16704G>C (n.703-16704G>C)
6g.107210558C>TCA365322681PDSS2c.889G>A (p.Val297Ile)
c.64G>A (p.Val22Ile)
c.876+1551G>A (n.876+1551G>A)
c.754G>A (p.Val252Ile)
c.481G>A (p.Val161Ile)
c.703-16704G>A (n.703-16704G>A)
 ClinVar
6g.107210558dupCA2578705078PDSS2c.889dup (p.Val297GlyfsTer6)
c.64dup (p.Val22GlyfsTer6)
c.876+1551dup (n.876+1551dup)
c.754dup (p.Val252GlyfsTer6)
c.481dup (p.Val161GlyfsTer6)
c.703-16704dup (n.703-16704dup)
6g.107210559A=CA1653786379PDSS2c.888T= (p.Asp296=)
c.63T= (p.Asp21=)
c.876+1550T= (n.876+1550T=)
c.753T= (p.Asp251=)
c.480T= (p.Asp160=)
c.703-16705T= (n.703-16705T=)
6g.107210559A>CCA365322683PDSS2c.888T>G (p.Asp296Glu)
c.63T>G (p.Asp21Glu)
c.876+1550T>G (n.876+1550T>G)
c.753T>G (p.Asp251Glu)
c.480T>G (p.Asp160Glu)
c.703-16705T>G (n.703-16705T>G)
6g.107210559A>GCA451563407PDSS2c.888T>C (p.Asp296=)
c.63T>C (p.Asp21=)
c.876+1550T>C (n.876+1550T>C)
c.753T>C (p.Asp251=)
c.480T>C (p.Asp160=)
c.703-16705T>C (n.703-16705T>C)
6g.107210559A>TCA3945984PDSS2c.888T>A (p.Asp296Glu)
c.63T>A (p.Asp21Glu)
c.876+1550T>A (n.876+1550T>A)
c.753T>A (p.Asp251Glu)
c.480T>A (p.Asp160Glu)
c.703-16705T>A (n.703-16705T>A)
 dbSNP ExAC gnomAD v4
6g.107210560T>ACA365322684PDSS2c.887A>T (p.Asp296Val)
c.62A>T (p.Asp21Val)
c.876+1549A>T (n.876+1549A>T)
c.752A>T (p.Asp251Val)
c.479A>T (p.Asp160Val)
c.703-16706A>T (n.703-16706A>T)
 COSMIC
6g.107210560T>CCA365322685PDSS2c.887A>G (p.Asp296Gly)
c.62A>G (p.Asp21Gly)
c.876+1549A>G (n.876+1549A>G)
c.752A>G (p.Asp251Gly)
c.479A>G (p.Asp160Gly)
c.703-16706A>G (n.703-16706A>G)
6g.107210560T>GCA365322686PDSS2c.887A>C (p.Asp296Ala)
c.62A>C (p.Asp21Ala)
c.876+1549A>C (n.876+1549A>C)
c.752A>C (p.Asp251Ala)
c.479A>C (p.Asp160Ala)
c.703-16706A>C (n.703-16706A>C)
6g.107210561C>ACA365322687PDSS2c.886G>T (p.Asp296Tyr)
c.61G>T (p.Asp21Tyr)
c.876+1548G>T (n.876+1548G>T)
c.751G>T (p.Asp251Tyr)
c.478G>T (p.Asp160Tyr)
c.703-16707G>T (n.703-16707G>T)
6g.107210561C>GCA365322688PDSS2c.886G>C (p.Asp296His)
c.61G>C (p.Asp21His)
c.876+1548G>C (n.876+1548G>C)
c.751G>C (p.Asp251His)
c.478G>C (p.Asp160His)
c.703-16707G>C (n.703-16707G>C)
 gnomAD v4
6g.107210561C>TCA365322689PDSS2c.886G>A (p.Asp296Asn)
c.61G>A (p.Asp21Asn)
c.876+1548G>A (n.876+1548G>A)
c.751G>A (p.Asp251Asn)
c.478G>A (p.Asp160Asn)
c.703-16707G>A (n.703-16707G>A)
6g.107210562A=CA1653786380PDSS2c.885T= (p.Ser295=)
c.60T= (p.Ser20=)
c.876+1547T= (n.876+1547T=)
c.750T= (p.Ser250=)
c.477T= (p.Ser159=)
c.703-16708T= (n.703-16708T=)
6g.107210562A>CCA451563409PDSS2c.885T>G (p.Ser295=)
c.60T>G (p.Ser20=)
c.876+1547T>G (n.876+1547T>G)
c.750T>G (p.Ser250=)
c.477T>G (p.Ser159=)
c.703-16708T>G (n.703-16708T>G)
 dbSNP gnomAD v4
6g.107210562A>GCA451563410PDSS2c.885T>C (p.Ser295=)
c.60T>C (p.Ser20=)
c.876+1547T>C (n.876+1547T>C)
c.750T>C (p.Ser250=)
c.477T>C (p.Ser159=)
c.703-16708T>C (n.703-16708T>C)
6g.107210562A>TCA451563412PDSS2c.885T>A (p.Ser295=)
c.60T>A (p.Ser20=)
c.876+1547T>A (n.876+1547T>A)
c.750T>A (p.Ser250=)
c.477T>A (p.Ser159=)
c.703-16708T>A (n.703-16708T>A)
6g.107210563G>ACA365322692PDSS2c.884C>T (p.Ser295Phe)
c.59C>T (p.Ser20Phe)
c.876+1546C>T (n.876+1546C>T)
c.749C>T (p.Ser250Phe)
c.476C>T (p.Ser159Phe)
c.703-16709C>T (n.703-16709C>T)
 gnomAD v4
6g.107210563G>CCA365322690PDSS2c.884C>G (p.Ser295Cys)
c.59C>G (p.Ser20Cys)
c.876+1546C>G (n.876+1546C>G)
c.749C>G (p.Ser250Cys)
c.476C>G (p.Ser159Cys)
c.703-16709C>G (n.703-16709C>G)
6g.107210563G>TCA365322691PDSS2c.884C>A (p.Ser295Tyr)
c.59C>A (p.Ser20Tyr)
c.876+1546C>A (n.876+1546C>A)
c.749C>A (p.Ser250Tyr)
c.476C>A (p.Ser159Tyr)
c.703-16709C>A (n.703-16709C>A)
 gnomAD v4
6g.107210564A>CCA365322693PDSS2c.883T>G (p.Ser295Ala)
c.58T>G (p.Ser20Ala)
c.876+1545T>G (n.876+1545T>G)
c.748T>G (p.Ser250Ala)
c.475T>G (p.Ser159Ala)
c.703-16710T>G (n.703-16710T>G)
6g.107210564A>GCA365322694PDSS2c.883T>C (p.Ser295Pro)
c.58T>C (p.Ser20Pro)
c.876+1545T>C (n.876+1545T>C)
c.748T>C (p.Ser250Pro)
c.475T>C (p.Ser159Pro)
c.703-16710T>C (n.703-16710T>C)
6g.107210564A>TCA365322695PDSS2c.883T>A (p.Ser295Thr)
c.58T>A (p.Ser20Thr)
c.876+1545T>A (n.876+1545T>A)
c.748T>A (p.Ser250Thr)
c.475T>A (p.Ser159Thr)
c.703-16710T>A (n.703-16710T>A)
6g.107210565A>CCA365322696PDSS2c.882T>G (p.Asn294Lys)
c.57T>G (p.Asn19Lys)
c.876+1544T>G (n.876+1544T>G)
c.747T>G (p.Asn249Lys)
c.474T>G (p.Asn158Lys)
c.703-16711T>G (n.703-16711T>G)
6g.107210565A>GCA451563438PDSS2c.882T>C (p.Asn294=)
c.57T>C (p.Asn19=)
c.876+1544T>C (n.876+1544T>C)
c.747T>C (p.Asn249=)
c.474T>C (p.Asn158=)
c.703-16711T>C (n.703-16711T>C)
6g.107210565A>TCA365322697PDSS2c.882T>A (p.Asn294Lys)
c.57T>A (p.Asn19Lys)
c.876+1544T>A (n.876+1544T>A)
c.747T>A (p.Asn249Lys)
c.474T>A (p.Asn158Lys)
c.703-16711T>A (n.703-16711T>A)
6g.107210566T>ACA365322698PDSS2c.881A>T (p.Asn294Ile)
c.56A>T (p.Asn19Ile)
c.876+1543A>T (n.876+1543A>T)
c.746A>T (p.Asn249Ile)
c.473A>T (p.Asn158Ile)
c.703-16712A>T (n.703-16712A>T)
6g.107210566T>CCA365322700PDSS2c.881A>G (p.Asn294Ser)
c.56A>G (p.Asn19Ser)
c.876+1543A>G (n.876+1543A>G)
c.746A>G (p.Asn249Ser)
c.473A>G (p.Asn158Ser)
c.703-16712A>G (n.703-16712A>G)
6g.107210566T>GCA365322699PDSS2c.881A>C (p.Asn294Thr)
c.56A>C (p.Asn19Thr)
c.876+1543A>C (n.876+1543A>C)
c.746A>C (p.Asn249Thr)
c.473A>C (p.Asn158Thr)
c.703-16712A>C (n.703-16712A>C)
6g.107210567T>ACA365322701PDSS2c.880A>T (p.Asn294Tyr)
c.55A>T (p.Asn19Tyr)
c.876+1542A>T (n.876+1542A>T)
c.745A>T (p.Asn249Tyr)
c.472A>T (p.Asn158Tyr)
c.703-16713A>T (n.703-16713A>T)
6g.107210567T>CCA365322702PDSS2c.880A>G (p.Asn294Asp)
c.55A>G (p.Asn19Asp)
c.876+1542A>G (n.876+1542A>G)
c.745A>G (p.Asn249Asp)
c.472A>G (p.Asn158Asp)
c.703-16713A>G (n.703-16713A>G)
 gnomAD v4
6g.107210567T>GCA365322703PDSS2c.880A>C (p.Asn294His)
c.55A>C (p.Asn19His)
c.876+1542A>C (n.876+1542A>C)
c.745A>C (p.Asn249His)
c.472A>C (p.Asn158His)
c.703-16713A>C (n.703-16713A>C)
6g.107210568T>ACA451563454PDSS2c.879A>T (p.Ile293=)
c.54A>T (p.Ile18=)
c.876+1541A>T (n.876+1541A>T)
c.744A>T (p.Ile248=)
c.471A>T (p.Ile157=)
c.703-16714A>T (n.703-16714A>T)
6g.107210568T>CCA365322704PDSS2c.879A>G (p.Ile293Met)
c.54A>G (p.Ile18Met)
c.876+1541A>G (n.876+1541A>G)
c.744A>G (p.Ile248Met)
c.471A>G (p.Ile157Met)
c.703-16714A>G (n.703-16714A>G)
 gnomAD v4
6g.107210568T>GCA451563453PDSS2c.879A>C (p.Ile293=)
c.54A>C (p.Ile18=)
c.876+1541A>C (n.876+1541A>C)
c.744A>C (p.Ile248=)
c.471A>C (p.Ile157=)
c.703-16714A>C (n.703-16714A>C)
6g.107210569A>CCA365322705PDSS2c.878T>G (p.Ile293Arg)
c.53T>G (p.Ile18Arg)
c.876+1540T>G (n.876+1540T>G)
c.743T>G (p.Ile248Arg)
c.470T>G (p.Ile157Arg)
c.703-16715T>G (n.703-16715T>G)
6g.107210569A>GCA365322706PDSS2c.878T>C (p.Ile293Thr)
c.53T>C (p.Ile18Thr)
c.876+1540T>C (n.876+1540T>C)
c.743T>C (p.Ile248Thr)
c.470T>C (p.Ile157Thr)
c.703-16715T>C (n.703-16715T>C)
6g.107210569A>TCA365322707PDSS2c.878T>A (p.Ile293Lys)
c.53T>A (p.Ile18Lys)
c.876+1540T>A (n.876+1540T>A)
c.743T>A (p.Ile248Lys)
c.470T>A (p.Ile157Lys)
c.703-16715T>A (n.703-16715T>A)
6g.107210570T>ACA365322708PDSS2c.877A>T (p.Ile293Leu)
c.52A>T (p.Ile18Leu)
c.876+1539A>T (n.876+1539A>T)
c.742A>T (p.Ile248Leu)
c.469A>T (p.Ile157Leu)
c.703-16716A>T (n.703-16716A>T)
6g.107210570T>CCA365322709PDSS2c.877A>G (p.Ile293Val)
c.52A>G (p.Ile18Val)
c.876+1539A>G (n.876+1539A>G)
c.742A>G (p.Ile248Val)
c.469A>G (p.Ile157Val)
c.703-16716A>G (n.703-16716A>G)
 gnomAD v4
6g.107210570T>GCA365322710PDSS2c.877A>C (p.Ile293Leu)
c.52A>C (p.Ile18Leu)
c.876+1539A>C (n.876+1539A>C)
c.742A>C (p.Ile248Leu)
c.469A>C (p.Ile157Leu)
c.703-16716A>C (n.703-16716A>C)
6g.107210571C>ACA365322713PDSS2c.877-1G>T (n.877-1G>T)
c.52-1G>T (n.52-1G>T)
c.876+1538G>T (n.876+1538G>T)
c.742-1G>T (n.742-1G>T)
c.469-1G>T (n.469-1G>T)
c.703-16717G>T (n.703-16717G>T)
6g.107210571C>GCA365322712PDSS2c.877-1G>C (n.877-1G>C)
c.52-1G>C (n.52-1G>C)
c.876+1538G>C (n.876+1538G>C)
c.742-1G>C (n.742-1G>C)
c.469-1G>C (n.469-1G>C)
c.703-16717G>C (n.703-16717G>C)
6g.107210571C>TCA365322711PDSS2c.877-1G>A (n.877-1G>A)
c.52-1G>A (n.52-1G>A)
c.876+1538G>A (n.876+1538G>A)
c.742-1G>A (n.742-1G>A)
c.469-1G>A (n.469-1G>A)
c.703-16717G>A (n.703-16717G>A)
 COSMIC COSMIC
6g.107210572T>ACA365322714PDSS2c.877-2A>T (n.877-2A>T)
c.52-2A>T (n.52-2A>T)
c.876+1537A>T (n.876+1537A>T)
c.742-2A>T (n.742-2A>T)
c.469-2A>T (n.469-2A>T)
c.703-16718A>T (n.703-16718A>T)
6g.107210572T>CCA324370PDSS2c.877-2A>G (n.877-2A>G)
c.52-2A>G (n.52-2A>G)
c.876+1537A>G (n.876+1537A>G)
c.742-2A>G (n.742-2A>G)
c.469-2A>G (n.469-2A>G)
c.703-16718A>G (n.703-16718A>G)
 ClinVar dbSNP gnomAD v4
6g.107210572T>GCA365322715PDSS2c.877-2A>C (n.877-2A>C)
c.52-2A>C (n.52-2A>C)
c.876+1537A>C (n.876+1537A>C)
c.742-2A>C (n.742-2A>C)
c.469-2A>C (n.469-2A>C)
c.703-16718A>C (n.703-16718A>C)
6g.107210572T=CA1653786381PDSS2c.877-2A= (n.877-2A=)
c.52-2A= (n.52-2A=)
c.876+1537A= (n.876+1537A=)
c.742-2A= (n.742-2A=)
c.469-2A= (n.469-2A=)
c.703-16718A= (n.703-16718A=)
6g.107210573A=CA1653786382PDSS2c.877-3T= (n.877-3T=)
c.52-3T= (n.52-3T=)
c.876+1536T= (n.876+1536T=)
c.742-3T= (n.742-3T=)
c.469-3T= (n.469-3T=)
c.703-16719T= (n.703-16719T=)
6g.107210573A>GCA3945985PDSS2c.877-3T>C (n.877-3T>C)
c.52-3T>C (n.52-3T>C)
c.876+1536T>C (n.876+1536T>C)
c.742-3T>C (n.742-3T>C)
c.469-3T>C (n.469-3T>C)
c.703-16719T>C (n.703-16719T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107210574C=CA1653786383PDSS2c.877-4G= (n.877-4G=)
c.52-4G= (n.52-4G=)
c.876+1535G= (n.876+1535G=)
c.742-4G= (n.742-4G=)
c.469-4G= (n.469-4G=)
c.703-16720G= (n.703-16720G=)
6g.107210574C>GCA2679872484PDSS2c.877-4G>C (n.877-4G>C)
c.52-4G>C (n.52-4G>C)
c.876+1535G>C (n.876+1535G>C)
c.742-4G>C (n.742-4G>C)
c.469-4G>C (n.469-4G>C)
c.703-16720G>C (n.703-16720G>C)
 gnomAD v4
6g.107210574C>TCA1092868682PDSS2c.877-4G>A (n.877-4G>A)
c.52-4G>A (n.52-4G>A)
c.876+1535G>A (n.876+1535G>A)
c.742-4G>A (n.742-4G>A)
c.469-4G>A (n.469-4G>A)
c.703-16720G>A (n.703-16720G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.107210576A=CA1653786384PDSS2c.877-6T= (n.877-6T=)
c.52-6T= (n.52-6T=)
c.876+1533T= (n.876+1533T=)
c.742-6T= (n.742-6T=)
c.469-6T= (n.469-6T=)
c.703-16722T= (n.703-16722T=)
6g.107210576A>GCA569502052PDSS2c.877-6T>C (n.877-6T>C)
c.52-6T>C (n.52-6T>C)
c.876+1533T>C (n.876+1533T>C)
c.742-6T>C (n.742-6T>C)
c.469-6T>C (n.469-6T>C)
c.703-16722T>C (n.703-16722T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.107210577G>ACA2679872485PDSS2c.877-7C>T (n.877-7C>T)
c.52-7C>T (n.52-7C>T)
c.876+1532C>T (n.876+1532C>T)
c.742-7C>T (n.742-7C>T)
c.469-7C>T (n.469-7C>T)
c.703-16723C>T (n.703-16723C>T)
 gnomAD v4
6g.107210577G>CCA2772513272PDSS2c.877-7C>G (n.877-7C>G)
c.52-7C>G (n.52-7C>G)
c.876+1532C>G (n.876+1532C>G)
c.742-7C>G (n.742-7C>G)
c.469-7C>G (n.469-7C>G)
c.703-16723C>G (n.703-16723C>G)
6g.107210577G=CA1653786385PDSS2c.877-7C= (n.877-7C=)
c.52-7C= (n.52-7C=)
c.876+1532C= (n.876+1532C=)
c.742-7C= (n.742-7C=)
c.469-7C= (n.469-7C=)
c.703-16723C= (n.703-16723C=)
6g.107210577G>TCA2679872486PDSS2c.877-7C>A (n.877-7C>A)
c.52-7C>A (n.52-7C>A)
c.876+1532C>A (n.876+1532C>A)
c.742-7C>A (n.742-7C>A)
c.469-7C>A (n.469-7C>A)
c.703-16723C>A (n.703-16723C>A)
 gnomAD v4
6g.107210579dupCA1653786386PDSS2c.877-8dup (n.877-8dup)
c.52-8dup (n.52-8dup)
c.876+1531dup (n.876+1531dup)
c.742-8dup (n.742-8dup)
c.469-8dup (n.469-8dup)
c.703-16724dup (n.703-16724dup)
 dbSNP
6g.107210579A>GCA2679872487PDSS2c.877-9T>C (n.877-9T>C)
c.52-9T>C (n.52-9T>C)
c.876+1530T>C (n.876+1530T>C)
c.742-9T>C (n.742-9T>C)
c.469-9T>C (n.469-9T>C)
c.703-16725T>C (n.703-16725T>C)
 gnomAD v4
6g.107210580G>ACA569502053PDSS2c.877-10C>T (n.877-10C>T)
c.52-10C>T (n.52-10C>T)
c.876+1529C>T (n.876+1529C>T)
c.742-10C>T (n.742-10C>T)
c.469-10C>T (n.469-10C>T)
c.703-16726C>T (n.703-16726C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.107210580G=CA1653786387PDSS2c.877-10C= (n.877-10C=)
c.52-10C= (n.52-10C=)
c.876+1529C= (n.876+1529C=)
c.742-10C= (n.742-10C=)
c.469-10C= (n.469-10C=)
c.703-16726C= (n.703-16726C=)
6g.107210580G>TCA2679872488PDSS2c.877-10C>A (n.877-10C>A)
c.52-10C>A (n.52-10C>A)
c.876+1529C>A (n.876+1529C>A)
c.742-10C>A (n.742-10C>A)
c.469-10C>A (n.469-10C>A)
c.703-16726C>A (n.703-16726C>A)
 gnomAD v4
6g.107210581C>TCA2679872489PDSS2c.877-11G>A (n.877-11G>A)
c.52-11G>A (n.52-11G>A)
c.876+1528G>A (n.876+1528G>A)
c.742-11G>A (n.742-11G>A)
c.469-11G>A (n.469-11G>A)
c.703-16727G>A (n.703-16727G>A)
 gnomAD v4
6g.107210582A>GCA2679872490PDSS2c.877-12T>C (n.877-12T>C)
c.52-12T>C (n.52-12T>C)
c.876+1527T>C (n.876+1527T>C)
c.742-12T>C (n.742-12T>C)
c.469-12T>C (n.469-12T>C)
c.703-16728T>C (n.703-16728T>C)
 gnomAD v4

Number of alleles fetched