Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
6 | g.107210495C>A | CA365322543 | PDSS2 | c.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) | |
6 | g.107210495C= | CA1653786353 | PDSS2 | c.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=) | |
6 | g.107210495C>G | CA365322544 | PDSS2 | c.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) | |
6 | g.107210495C>T | CA145597787 | PDSS2 | c.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 |
6 | g.107210496_107210497insTCA | CA2679872482 | PDSS2 | c.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 |
6 | g.107210496A= | CA1653786354 | PDSS2 | c.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=) | |
6 | g.107210496A>C | CA451563357 | PDSS2 | c.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) | |
6 | g.107210496A>G | CA3945973 | PDSS2 | c.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 |
6 | g.107210496A>T | CA451563358 | PDSS2 | c.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) | |
6 | g.107210497G>A | CA365322545 | PDSS2 | c.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 |
6 | g.107210497G>C | CA365322546 | PDSS2 | c.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) | |
6 | g.107210497G>T | CA365322547 | PDSS2 | c.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) | |
6 | g.107210498G>A | CA365322548 | PDSS2 | c.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) | |
6 | g.107210498G>C | CA365322550 | PDSS2 | c.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 |
6 | g.107210498G>T | CA365322549 | PDSS2 | c.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 |
6 | g.107210499A= | CA1653786355 | PDSS2 | c.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=) | |
6 | g.107210499A>C | CA451563362 | PDSS2 | c.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) | |
6 | g.107210499A>G | CA451563363 | PDSS2 | c.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 |
6 | g.107210499A>T | CA451563364 | PDSS2 | c.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) | |
6 | g.107210500G>A | CA365322551 | PDSS2 | c.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 |
6 | g.107210500G>C | CA365322552 | PDSS2 | c.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 |
6 | g.107210500G>T | CA365322553 | PDSS2 | c.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) | |
6 | g.107210501C>A | CA365322554 | PDSS2 | c.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) | |
6 | g.107210501C>G | CA365322555 | PDSS2 | c.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) | |
6 | g.107210501C>T | CA365322556 | PDSS2 | c.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 |
6 | g.107210502T>A | CA451563365 | PDSS2 | c.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) | |
6 | g.107210502T>C | CA451563366 | PDSS2 | c.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) | |
6 | g.107210502T>G | CA451563368 | PDSS2 | c.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) | |
6 | g.107210503G>A | CA365322557 | PDSS2 | c.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) | |
6 | g.107210503G>C | CA365322558 | PDSS2 | c.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) | |
6 | g.107210503G>T | CA365322559 | PDSS2 | c.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 |
6 | g.107210504A>C | CA365322560 | PDSS2 | c.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) | |
6 | g.107210504A>G | CA365322561 | PDSS2 | c.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) | |
6 | g.107210504A>T | CA365322562 | PDSS2 | c.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) | |
6 | g.107210505G>A | CA451563370 | PDSS2 | c.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 |
6 | g.107210505G>C | CA365322563 | PDSS2 | c.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 |
6 | g.107210505G= | CA1653786356 | PDSS2 | c.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=) | |
6 | g.107210505G>T | CA365322564 | PDSS2 | c.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 |
6 | g.107210506T>A | CA365322565 | PDSS2 | c.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) | |
6 | g.107210506T>C | CA365322566 | PDSS2 | c.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) | |
6 | g.107210506T>G | CA3945974 | PDSS2 | c.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 |
6 | g.107210506T= | CA1653786357 | PDSS2 | c.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=) | |
6 | g.107210507T>A | CA365322567 | PDSS2 | c.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) | |
6 | g.107210507T>C | CA365322569 | PDSS2 | c.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) | |
6 | g.107210507T>G | CA365322568 | PDSS2 | c.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) | |
6 | g.107210508T>A | CA451563371 | PDSS2 | c.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) | |
6 | g.107210508T>C | CA451563373 | PDSS2 | c.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 |
6 | g.107210508T>G | CA451563372 | PDSS2 | c.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) | |
6 | g.107210509A>C | CA365322570 | PDSS2 | c.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) | |
6 | g.107210509A>G | CA365322571 | PDSS2 | c.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) | |
6 | g.107210509A>T | CA365322572 | PDSS2 | c.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) | |
6 | g.107210510G>A | CA451563374 | PDSS2 | c.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) | |
6 | g.107210510G>C | CA365322573 | PDSS2 | c.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) | |
6 | g.107210510G>T | CA365322574 | PDSS2 | c.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) | |
6 | g.107210511A>C | CA365322575 | PDSS2 | c.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) | |
6 | g.107210511A>G | CA451563375 | PDSS2 | c.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) | |
6 | g.107210511A>T | CA365322576 | PDSS2 | c.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) | |
6 | g.107210512T>A | CA365322577 | PDSS2 | c.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) | |
6 | g.107210512T>C | CA365322578 | PDSS2 | c.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 |
6 | g.107210512T>G | CA365322579 | PDSS2 | c.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) | |
6 | g.107210513T>A | CA365322582 | PDSS2 | c.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) | |
6 | g.107210513T>C | CA365322581 | PDSS2 | c.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) | |
6 | g.107210513T>G | CA365322580 | PDSS2 | c.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) | |
6 | g.107210513_107210515delinsTAA | CA1653786358 | PDSS2 | c.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) | |
6 | g.107210514A>C | CA365322583 | PDSS2 | c.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) | |
6 | g.107210514A>G | CA451563376 | PDSS2 | c.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) | |
6 | g.107210514A>T | CA365322584 | PDSS2 | c.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 |
6 | g.107210516_107210517del | CA569502039 | PDSS2 | c.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 |
6 | g.107210515A= | CA1653786359 | PDSS2 | c.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=) | |
6 | g.107210515A>C | CA365322585 | PDSS2 | c.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) | |
6 | g.107210515A>G | CA3945975 | PDSS2 | c.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 |
6 | g.107210515A>T | CA365322586 | PDSS2 | c.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) | |
6 | g.107210516A>C | CA365322587 | PDSS2 | c.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) | |
6 | g.107210516A>G | CA365322588 | PDSS2 | c.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) | |
6 | g.107210516A>T | CA365322589 | PDSS2 | c.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) | |
6 | g.107210517A>C | CA451563378 | PDSS2 | c.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) | |
6 | g.107210517A>G | CA451563380 | PDSS2 | c.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) | |
6 | g.107210517A>T | CA451563379 | PDSS2 | c.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) | |
6 | g.107210518G>A | CA365322590 | PDSS2 | c.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) | |
6 | g.107210518G>C | CA365322591 | PDSS2 | c.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 |
6 | g.107210518G>T | CA365322592 | PDSS2 | c.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 |
6 | g.107210519T>A | CA365322594 | PDSS2 | c.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) | |
6 | g.107210519T>C | CA365322595 | PDSS2 | c.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) | |
6 | g.107210519T>G | CA365322593 | PDSS2 | c.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 |
6 | g.107210520C>A | CA365322596 | PDSS2 | c.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 |
6 | g.107210520C= | CA1653786360 | PDSS2 | c.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=) | |
6 | g.107210520C>G | CA365322597 | PDSS2 | c.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 |
6 | g.107210520C>T | CA365322598 | PDSS2 | c.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) | |
6 | g.107210521A= | CA1653786361 | PDSS2 | c.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=) | |
6 | g.107210521A>C | CA365322599 | PDSS2 | c.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) | |
6 | g.107210521A>G | CA365322600 | PDSS2 | c.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 |
6 | g.107210521A>T | CA365322601 | PDSS2 | c.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) | |
6 | g.107210522T>A | CA365322602 | PDSS2 | c.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 |
6 | g.107210522T>C | CA365322603 | PDSS2 | c.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 |
6 | g.107210522T>G | CA365322604 | PDSS2 | c.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) | |
6 | g.107210522T= | CA1653786362 | PDSS2 | c.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=) | |
6 | g.107210522_107210523delinsTG | CA1653786363 | PDSS2 | c.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) | |
6 | g.107210523G>A | CA451563381 | PDSS2 | c.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) | |
6 | g.107210523G>C | CA451563382 | PDSS2 | c.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) | |
6 | g.107210523G>T | CA451563383 | PDSS2 | c.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) | |
6 | g.107210524del | CA816859135 | PDSS2 | c.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 |
6 | g.107210524G>A | CA365322605 | PDSS2 | c.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) | |
6 | g.107210524G>C | CA365322606 | PDSS2 | c.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) | |
6 | g.107210524G>T | CA365322607 | PDSS2 | c.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) | |
6 | g.107210525A= | CA1653786364 | PDSS2 | c.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=) | |
6 | g.107210525A>C | CA365322609 | PDSS2 | c.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) | |
6 | g.107210525A>G | CA3945976 | PDSS2 | c.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 |
6 | g.107210525A>T | CA365322608 | PDSS2 | c.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) | |
6 | g.107210526G>A | CA451563384 | PDSS2 | c.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) | |
6 | g.107210526G>C | CA365322610 | PDSS2 | c.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) | |
6 | g.107210526G>T | CA365322611 | PDSS2 | c.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) | |
6 | g.107210527T>A | CA365322612 | PDSS2 | c.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) | |
6 | g.107210527T>C | CA365322613 | PDSS2 | c.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) | |
6 | g.107210527T>G | CA365322614 | PDSS2 | c.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) | |
6 | g.107210528C>A | CA365322617 | PDSS2 | c.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) | |
6 | g.107210528C= | CA1653786365 | PDSS2 | c.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=) | |
6 | g.107210528C>G | CA365322615 | PDSS2 | c.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) | |
6 | g.107210528C>T | CA365322616 | PDSS2 | c.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 |
6 | g.107210529A>C | CA365322618 | PDSS2 | c.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 |
6 | g.107210529A>G | CA451563386 | PDSS2 | c.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) | |
6 | g.107210529A>T | CA365322619 | PDSS2 | c.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) | |
6 | g.107210530C>A | CA365322620 | PDSS2 | c.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) | |
6 | g.107210530C>G | CA365322621 | PDSS2 | c.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 |
6 | g.107210530C>T | CA365322622 | PDSS2 | c.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) | |
6 | g.107210532_107210536del | CA2679872483 | PDSS2 | c.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 |
6 | g.107210531T>A | CA365322624 | PDSS2 | c.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 |
6 | g.107210531T>C | CA365322623 | PDSS2 | c.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 |
6 | g.107210531T>G | CA3945977 | PDSS2 | c.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 |
6 | g.107210531T= | CA1653786366 | PDSS2 | c.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=) | |
6 | g.107210532G>A | CA16605002 | PDSS2 | c.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 |
6 | g.107210532G>C | CA451563388 | PDSS2 | c.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) | |
6 | g.107210532G= | CA1653786367 | PDSS2 | c.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=) | |
6 | g.107210532G>T | CA451563387 | PDSS2 | c.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 |
6 | g.107210533G>A | CA365322625 | PDSS2 | c.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 |
6 | g.107210533G>C | CA3945978 | PDSS2 | c.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 |
6 | g.107210533G= | CA1653786368 | PDSS2 | c.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=) | |
6 | g.107210533G>T | CA365322626 | PDSS2 | c.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 |
6 | g.107210534T>A | CA365322627 | PDSS2 | c.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) | |
6 | g.107210534T>C | CA365322628 | PDSS2 | c.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) | |
6 | g.107210534T>G | CA365322629 | PDSS2 | c.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) | |
6 | g.107210539_107210543del | CA2538433239 | PDSS2 | c.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) | |
6 | g.107210535C>A | CA145597788 | PDSS2 | c.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 |
6 | g.107210535C= | CA1653786369 | PDSS2 | c.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=) | |
6 | g.107210535C>G | CA365322630 | PDSS2 | c.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) | |
6 | g.107210535C>T | CA451563389 | PDSS2 | c.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 |
6 | g.107210536T>A | CA365322631 | PDSS2 | c.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) | |
6 | g.107210536T>C | CA365322632 | PDSS2 | c.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 |
6 | g.107210536T>G | CA365322633 | PDSS2 | c.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) | |
6 | g.107210536T= | CA1653786370 | PDSS2 | c.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=) | |
6 | g.107210537T>A | CA365322634 | PDSS2 | c.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) | |
6 | g.107210537T>C | CA365322635 | PDSS2 | c.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) | |
6 | g.107210537T>G | CA365322636 | PDSS2 | c.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) | |
6 | g.107210538T>A | CA365322637 | PDSS2 | c.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) | |
6 | g.107210538T>C | CA451563390 | PDSS2 | c.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) | |
6 | g.107210538T>G | CA365322638 | PDSS2 | c.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) | |
6 | g.107210539T>A | CA365322639 | PDSS2 | c.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) | |
6 | g.107210539T>C | CA3945979 | PDSS2 | c.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 |
6 | g.107210539T>G | CA365322640 | PDSS2 | c.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) | |
6 | g.107210539T= | CA1653786371 | PDSS2 | c.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=) | |
6 | g.107210540C>A | CA365322641 | PDSS2 | c.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) | |
6 | g.107210540C>G | CA365322642 | PDSS2 | c.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 |
6 | g.107210540C>T | CA365322643 | PDSS2 | c.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 |
6 | g.107210541T>A | CA365322644 | PDSS2 | c.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) | |
6 | g.107210541T>C | CA451563391 | PDSS2 | c.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) | |
6 | g.107210541T>G | CA365322645 | PDSS2 | c.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) | |
6 | g.107210542T>A | CA365322646 | PDSS2 | c.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 |
6 | g.107210542T>C | CA365322647 | PDSS2 | c.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) | |
6 | g.107210542T>G | CA365322648 | PDSS2 | c.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) | |
6 | g.107210542T= | CA1653786372 | PDSS2 | c.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=) | |
6 | g.107210543T>A | CA365322649 | PDSS2 | c.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) | |
6 | g.107210543T>C | CA365322650 | PDSS2 | c.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) | |
6 | g.107210543T>G | CA365322651 | PDSS2 | c.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) | |
6 | g.107210544A>C | CA365322652 | PDSS2 | c.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) | |
6 | g.107210544A>G | CA451563392 | PDSS2 | c.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) | |
6 | g.107210544A>T | CA451563393 | PDSS2 | c.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) | |
6 | g.107210545A= | CA1653786373 | PDSS2 | c.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=) | |
6 | g.107210545A>C | CA365322654 | PDSS2 | c.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) | |
6 | g.107210545A>G | CA3945980 | PDSS2 | c.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 |
6 | g.107210545A>T | CA365322653 | PDSS2 | c.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) | |
6 | g.107210546T>A | CA365322655 | PDSS2 | c.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) | |
6 | g.107210546T>C | CA3945981 | PDSS2 | c.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 |
6 | g.107210546T>G | CA365322656 | PDSS2 | c.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) | |
6 | g.107210546T= | CA1653786374 | PDSS2 | c.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=) | |
6 | g.107210547A>C | CA365322657 | PDSS2 | c.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) | |
6 | g.107210547A>G | CA451563394 | PDSS2 | c.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) | |
6 | g.107210547A>T | CA365322658 | PDSS2 | c.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) | |
6 | g.107210550del | CA2578705077 | PDSS2 | c.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 |
6 | g.107210548A>C | CA365322659 | PDSS2 | c.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) | |
6 | g.107210548A>G | CA365322660 | PDSS2 | c.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) | |
6 | g.107210548A>T | CA365322661 | PDSS2 | c.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) | |
6 | g.107210549A= | CA1653786375 | PDSS2 | c.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=) | |
6 | g.107210549A>C | CA365322662 | PDSS2 | c.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) | |
6 | g.107210549A>G | CA3945982 | PDSS2 | c.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 |
6 | g.107210549A>T | CA365322663 | PDSS2 | c.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) | |
6 | g.107210549_107210567dup | CA2772513263 | PDSS2 | c.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) | |
6 | g.107210550A>C | CA451563395 | PDSS2 | c.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) | |
6 | g.107210550A>G | CA451563396 | PDSS2 | c.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) | |
6 | g.107210550A>T | CA451563397 | PDSS2 | c.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) | |
6 | g.107210551G>A | CA365322666 | PDSS2 | c.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) | |
6 | g.107210551G>C | CA365322664 | PDSS2 | c.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 |
6 | g.107210551G= | CA1653786376 | PDSS2 | c.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=) | |
6 | g.107210551G>T | CA365322665 | PDSS2 | c.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 |
6 | g.107210552G>A | CA365322667 | PDSS2 | c.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 |
6 | g.107210552G>C | CA365322668 | PDSS2 | c.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) | |
6 | g.107210552G= | CA1653786377 | PDSS2 | c.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=) | |
6 | g.107210552G>T | CA365322669 | PDSS2 | c.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 |
6 | g.107210553C>A | CA365322670 | PDSS2 | c.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) | |
6 | g.107210553C>G | CA365322671 | PDSS2 | c.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) | |
6 | g.107210553C>T | CA451563399 | PDSS2 | c.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) | |
6 | g.107210554T>A | CA365322672 | PDSS2 | c.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) | |
6 | g.107210554T>C | CA365322673 | PDSS2 | c.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) | |
6 | g.107210554T>G | CA365322674 | PDSS2 | c.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) | |
6 | g.107210555G>A | CA365322675 | PDSS2 | c.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 |
6 | g.107210555G>C | CA365322676 | PDSS2 | c.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) | |
6 | g.107210555G>T | CA365322677 | PDSS2 | c.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 |
6 | g.107210556G>A | CA451563402 | PDSS2 | c.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) | |
6 | g.107210556G>C | CA451563403 | PDSS2 | c.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) | |
6 | g.107210556G>T | CA451563404 | PDSS2 | c.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 |
6 | g.107210557A= | CA1653786378 | PDSS2 | c.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=) | |
6 | g.107210557A>C | CA365322679 | PDSS2 | c.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) | |
6 | g.107210557A>G | CA3945983 | PDSS2 | c.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 |
6 | g.107210557A>T | CA365322678 | PDSS2 | c.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 |
6 | g.107210558C>A | CA365322680 | PDSS2 | c.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) | |
6 | g.107210558C>G | CA365322682 | PDSS2 | c.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) | |
6 | g.107210558C>T | CA365322681 | PDSS2 | c.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 |
6 | g.107210558dup | CA2578705078 | PDSS2 | c.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) | |
6 | g.107210559A= | CA1653786379 | PDSS2 | c.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=) | |
6 | g.107210559A>C | CA365322683 | PDSS2 | c.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) | |
6 | g.107210559A>G | CA451563407 | PDSS2 | c.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) | |
6 | g.107210559A>T | CA3945984 | PDSS2 | c.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 |
6 | g.107210560T>A | CA365322684 | PDSS2 | c.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 |
6 | g.107210560T>C | CA365322685 | PDSS2 | c.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) | |
6 | g.107210560T>G | CA365322686 | PDSS2 | c.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) | |
6 | g.107210561C>A | CA365322687 | PDSS2 | c.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) | |
6 | g.107210561C>G | CA365322688 | PDSS2 | c.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 |
6 | g.107210561C>T | CA365322689 | PDSS2 | c.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) | |
6 | g.107210562A= | CA1653786380 | PDSS2 | c.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=) | |
6 | g.107210562A>C | CA451563409 | PDSS2 | c.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 |
6 | g.107210562A>G | CA451563410 | PDSS2 | c.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) | |
6 | g.107210562A>T | CA451563412 | PDSS2 | c.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) | |
6 | g.107210563G>A | CA365322692 | PDSS2 | c.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 |
6 | g.107210563G>C | CA365322690 | PDSS2 | c.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) | |
6 | g.107210563G>T | CA365322691 | PDSS2 | c.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 |
6 | g.107210564A>C | CA365322693 | PDSS2 | c.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) | |
6 | g.107210564A>G | CA365322694 | PDSS2 | c.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) | |
6 | g.107210564A>T | CA365322695 | PDSS2 | c.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) | |
6 | g.107210565A>C | CA365322696 | PDSS2 | c.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) | |
6 | g.107210565A>G | CA451563438 | PDSS2 | c.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) | |
6 | g.107210565A>T | CA365322697 | PDSS2 | c.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) | |
6 | g.107210566T>A | CA365322698 | PDSS2 | c.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) | |
6 | g.107210566T>C | CA365322700 | PDSS2 | c.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) | |
6 | g.107210566T>G | CA365322699 | PDSS2 | c.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) | |
6 | g.107210567T>A | CA365322701 | PDSS2 | c.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) | |
6 | g.107210567T>C | CA365322702 | PDSS2 | c.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 |
6 | g.107210567T>G | CA365322703 | PDSS2 | c.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) | |
6 | g.107210568T>A | CA451563454 | PDSS2 | c.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) | |
6 | g.107210568T>C | CA365322704 | PDSS2 | c.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 |
6 | g.107210568T>G | CA451563453 | PDSS2 | c.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) | |
6 | g.107210569A>C | CA365322705 | PDSS2 | c.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) | |
6 | g.107210569A>G | CA365322706 | PDSS2 | c.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) | |
6 | g.107210569A>T | CA365322707 | PDSS2 | c.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) | |
6 | g.107210570T>A | CA365322708 | PDSS2 | c.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) | |
6 | g.107210570T>C | CA365322709 | PDSS2 | c.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 |
6 | g.107210570T>G | CA365322710 | PDSS2 | c.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) | |
6 | g.107210571C>A | CA365322713 | PDSS2 | c.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) | |
6 | g.107210571C>G | CA365322712 | PDSS2 | c.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) | |
6 | g.107210571C>T | CA365322711 | PDSS2 | c.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 |
6 | g.107210572T>A | CA365322714 | PDSS2 | c.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) | |
6 | g.107210572T>C | CA324370 | PDSS2 | c.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 |
6 | g.107210572T>G | CA365322715 | PDSS2 | c.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) | |
6 | g.107210572T= | CA1653786381 | PDSS2 | c.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=) | |
6 | g.107210573A= | CA1653786382 | PDSS2 | c.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=) | |
6 | g.107210573A>G | CA3945985 | PDSS2 | c.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 |
6 | g.107210574C= | CA1653786383 | PDSS2 | c.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=) | |
6 | g.107210574C>G | CA2679872484 | PDSS2 | c.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 |
6 | g.107210574C>T | CA1092868682 | PDSS2 | c.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 |
6 | g.107210576A= | CA1653786384 | PDSS2 | c.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=) | |
6 | g.107210576A>G | CA569502052 | PDSS2 | c.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 |
6 | g.107210577G>A | CA2679872485 | PDSS2 | c.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 |
6 | g.107210577G>C | CA2772513272 | PDSS2 | c.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) | |
6 | g.107210577G= | CA1653786385 | PDSS2 | c.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=) | |
6 | g.107210577G>T | CA2679872486 | PDSS2 | c.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 |
6 | g.107210579dup | CA1653786386 | PDSS2 | c.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 |
6 | g.107210579A>G | CA2679872487 | PDSS2 | c.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 |
6 | g.107210580G>A | CA569502053 | PDSS2 | c.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 |
6 | g.107210580G= | CA1653786387 | PDSS2 | c.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=) | |
6 | g.107210580G>T | CA2679872488 | PDSS2 | c.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 |
6 | g.107210581C>T | CA2679872489 | PDSS2 | c.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 |
6 | g.107210582A>G | CA2679872490 | PDSS2 | c.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 |
6 | g.107210584T>C | CA2679872491 | PDSS2 | c.877-14A>G (n.877-14A>G) c.52-14A>G (n.52-14A>G) c.876+1525A>G (n.876+1525A>G) c.742-14A>G (n.742-14A>G) c.469-14A>G (n.469-14A>G) c.703-16730A>G (n.703-16730A>G) | gnomAD v4 |
6 | g.107210585T>A | CA3945986 | PDSS2 | c.877-15A>T (n.877-15A>T) c.52-15A>T (n.52-15A>T) c.876+1524A>T (n.876+1524A>T) c.742-15A>T (n.742-15A>T) c.469-15A>T (n.469-15A>T) c.703-16731A>T (n.703-16731A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107210585T= | CA1653786388 | PDSS2 | c.877-15A= (n.877-15A=) c.52-15A= (n.52-15A=) c.876+1524A= (n.876+1524A=) c.742-15A= (n.742-15A=) c.469-15A= (n.469-15A=) c.703-16731A= (n.703-16731A=) |