Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.107245532C>A | CA2679875443 | PDSS2 | c.702+16G>T (n.702+16G>T) c.567+16G>T (n.567+16G>T) c.294+16G>T (n.294+16G>T) | gnomAD v4 |
6 | g.107245532C= | CA1653773715 | PDSS2 | c.702+16G= (n.702+16G=) c.567+16G= (n.567+16G=) c.294+16G= (n.294+16G=) | |
6 | g.107245532C>G | CA3946048 | PDSS2 | c.702+16G>C (n.702+16G>C) c.567+16G>C (n.567+16G>C) c.294+16G>C (n.294+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245532C>T | CA3946047 | PDSS2 | c.702+16G>A (n.702+16G>A) c.567+16G>A (n.567+16G>A) c.294+16G>A (n.294+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245533T>C | CA2679875444 | PDSS2 | c.702+15A>G (n.702+15A>G) c.567+15A>G (n.567+15A>G) c.294+15A>G (n.294+15A>G) | gnomAD v4 |
6 | g.107245534C>A | CA2679875445 | PDSS2 | c.702+14G>T (n.702+14G>T) c.567+14G>T (n.567+14G>T) c.294+14G>T (n.294+14G>T) | gnomAD v4 |
6 | g.107245534C>G | CA2679875446 | PDSS2 | c.702+14G>C (n.702+14G>C) c.567+14G>C (n.567+14G>C) c.294+14G>C (n.294+14G>C) | gnomAD v4 |
6 | g.107245535T>C | CA2679875447 | PDSS2 | c.702+13A>G (n.702+13A>G) c.567+13A>G (n.567+13A>G) c.294+13A>G (n.294+13A>G) | gnomAD v4 |
6 | g.107245536G>A | CA3946049 | PDSS2 | c.702+12C>T (n.702+12C>T) c.567+12C>T (n.567+12C>T) c.294+12C>T (n.294+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245536G= | CA1653773716 | PDSS2 | c.702+12C= (n.702+12C=) c.567+12C= (n.567+12C=) c.294+12C= (n.294+12C=) | |
6 | g.107245536G>T | CA2679875448 | PDSS2 | c.702+12C>A (n.702+12C>A) c.567+12C>A (n.567+12C>A) c.294+12C>A (n.294+12C>A) | gnomAD v4 |
6 | g.107245537A>G | CA2679875449 | PDSS2 | c.702+11T>C (n.702+11T>C) c.567+11T>C (n.567+11T>C) c.294+11T>C (n.294+11T>C) | gnomAD v4 |
6 | g.107245538A>G | CA2679875450 | PDSS2 | c.702+10T>C (n.702+10T>C) c.567+10T>C (n.567+10T>C) c.294+10T>C (n.294+10T>C) | gnomAD v4 |
6 | g.107245539A= | CA1653773717 | PDSS2 | c.702+9T= (n.702+9T=) c.567+9T= (n.567+9T=) c.294+9T= (n.294+9T=) | |
6 | g.107245539A>G | CA145601465 | PDSS2 | c.702+9T>C (n.702+9T>C) c.567+9T>C (n.567+9T>C) c.294+9T>C (n.294+9T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245540T>C | CA2679875451 | PDSS2 | c.702+8A>G (n.702+8A>G) c.567+8A>G (n.567+8A>G) c.294+8A>G (n.294+8A>G) | gnomAD v4 |
6 | g.107245540_107245541delinsTC | CA1653773719 | PDSS2 | c.702+7_702+8delinsGA (n.702+7_702+8delinsGA) c.567+7_567+8delinsGA (n.567+7_567+8delinsGA) c.294+7_294+8delinsGA (n.294+7_294+8delinsGA) | |
6 | g.107245541C>A | CA2679875452 | PDSS2 | c.702+7G>T (n.702+7G>T) c.567+7G>T (n.567+7G>T) c.294+7G>T (n.294+7G>T) | gnomAD v4 |
6 | g.107245541C>T | CA2679875453 | PDSS2 | c.702+7G>A (n.702+7G>A) c.567+7G>A (n.567+7G>A) c.294+7G>A (n.294+7G>A) | gnomAD v4 |
6 | g.107245542del | CA1653773720 | PDSS2 | c.702+7del (n.702+7del) c.567+7del (n.567+7del) c.294+7del (n.294+7del) | dbSNP |
6 | g.107245542C>A | CA2679875454 | PDSS2 | c.702+6G>T (n.702+6G>T) c.567+6G>T (n.567+6G>T) c.294+6G>T (n.294+6G>T) | gnomAD v4 |
6 | g.107245542C= | CA1653773721 | PDSS2 | c.702+6G= (n.702+6G=) c.567+6G= (n.567+6G=) c.294+6G= (n.294+6G=) | |
6 | g.107245542C>G | CA1092900066 | PDSS2 | c.702+6G>C (n.702+6G>C) c.567+6G>C (n.567+6G>C) c.294+6G>C (n.294+6G>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245543T>A | CA2679875455 | PDSS2 | c.702+5A>T (n.702+5A>T) c.567+5A>T (n.567+5A>T) c.294+5A>T (n.294+5A>T) | gnomAD v4 |
6 | g.107245543T>C | CA3946050 | PDSS2 | c.702+5A>G (n.702+5A>G) c.567+5A>G (n.567+5A>G) c.294+5A>G (n.294+5A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245543T= | CA1653773723 | PDSS2 | c.702+5A= (n.702+5A=) c.567+5A= (n.567+5A=) c.294+5A= (n.294+5A=) | |
6 | g.107245544T>C | CA2679875456 | PDSS2 | c.702+4A>G (n.702+4A>G) c.567+4A>G (n.567+4A>G) c.294+4A>G (n.294+4A>G) | gnomAD v4 |
6 | g.107245545T>C | CA2679875457 | PDSS2 | c.702+3A>G (n.702+3A>G) c.567+3A>G (n.567+3A>G) c.294+3A>G (n.294+3A>G) | gnomAD v4 |
6 | g.107245546A>C | CA365323010 | PDSS2 | c.702+2T>G (n.702+2T>G) c.567+2T>G (n.567+2T>G) c.294+2T>G (n.294+2T>G) | |
6 | g.107245546A>G | CA365323011 | PDSS2 | c.702+2T>C (n.702+2T>C) c.567+2T>C (n.567+2T>C) c.294+2T>C (n.294+2T>C) | gnomAD v4 |
6 | g.107245546A>T | CA365323012 | PDSS2 | c.702+2T>A (n.702+2T>A) c.567+2T>A (n.567+2T>A) c.294+2T>A (n.294+2T>A) | gnomAD v4 |
6 | g.107245547C>A | CA365323015 | PDSS2 | c.702+1G>T (n.702+1G>T) c.567+1G>T (n.567+1G>T) c.294+1G>T (n.294+1G>T) | |
6 | g.107245547C= | CA1653773724 | PDSS2 | c.702+1G= (n.702+1G=) c.567+1G= (n.567+1G=) c.294+1G= (n.294+1G=) | |
6 | g.107245547C>G | CA365323013 | PDSS2 | c.702+1G>C (n.702+1G>C) c.567+1G>C (n.567+1G>C) c.294+1G>C (n.294+1G>C) | |
6 | g.107245547C>T | CA365323014 | PDSS2 | c.702+1G>A (n.702+1G>A) c.567+1G>A (n.567+1G>A) c.294+1G>A (n.294+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.107245548C>A | CA365323016 | PDSS2 | c.702G>T (p.Lys234Asn) c.567G>T (p.Lys189Asn) c.294G>T (p.Lys98Asn) | gnomAD v4 |
6 | g.107245548C>G | CA365323017 | PDSS2 | c.702G>C (p.Lys234Asn) c.567G>C (p.Lys189Asn) c.294G>C (p.Lys98Asn) | |
6 | g.107245548C>T | CA451564082 | PDSS2 | c.702G>A (p.Lys234=) c.567G>A (p.Lys189=) c.294G>A (p.Lys98=) | gnomAD v4 |
6 | g.107245549T>A | CA365323018 | PDSS2 | c.701A>T (p.Lys234Met) c.566A>T (p.Lys189Met) c.293A>T (p.Lys98Met) | |
6 | g.107245549T>C | CA365323019 | PDSS2 | c.701A>G (p.Lys234Arg) c.566A>G (p.Lys189Arg) c.293A>G (p.Lys98Arg) | gnomAD v4 |
6 | g.107245549T>G | CA145601466 | PDSS2 | c.701A>C (p.Lys234Thr) c.566A>C (p.Lys189Thr) c.293A>C (p.Lys98Thr) | dbSNP |
6 | g.107245549T= | CA1653773727 | PDSS2 | c.701A= (p.Lys234=) c.566A= (p.Lys189=) c.293A= (p.Lys98=) | |
6 | g.107245550T>A | CA365323020 | PDSS2 | c.700A>T (p.Lys234Ter) c.565A>T (p.Lys189Ter) c.292A>T (p.Lys98Ter) | |
6 | g.107245550T>C | CA324643 | PDSS2 | c.700A>G (p.Lys234Glu) c.565A>G (p.Lys189Glu) c.292A>G (p.Lys98Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245550T>G | CA365323021 | PDSS2 | c.700A>C (p.Lys234Gln) c.565A>C (p.Lys189Gln) c.292A>C (p.Lys98Gln) | |
6 | g.107245550T= | CA1653773730 | PDSS2 | c.700A= (p.Lys234=) c.565A= (p.Lys189=) c.292A= (p.Lys98=) | |
6 | g.107245551T>A | CA451564096 | PDSS2 | c.699A>T (p.Ser233=) c.564A>T (p.Ser188=) c.291A>T (p.Ser97=) | |
6 | g.107245551T>C | CA451564098 | PDSS2 | c.699A>G (p.Ser233=) c.564A>G (p.Ser188=) c.291A>G (p.Ser97=) | gnomAD v4 |
6 | g.107245551T>G | CA451564101 | PDSS2 | c.699A>C (p.Ser233=) c.564A>C (p.Ser188=) c.291A>C (p.Ser97=) | |
6 | g.107245551_107245552del | CA2578825650 | PDSS2 | c.698_699del (p.Ser233Ter) c.563_564del (p.Ser188Ter) c.290_291del (p.Ser97Ter) | |
6 | g.107245552G>A | CA365323022 | PDSS2 | c.698C>T (p.Ser233Leu) c.563C>T (p.Ser188Leu) c.290C>T (p.Ser97Leu) | |
6 | g.107245552G>C | CA365323023 | PDSS2 | c.698C>G (p.Ser233Ter) c.563C>G (p.Ser188Ter) c.290C>G (p.Ser97Ter) | |
6 | g.107245552G>T | CA365323024 | PDSS2 | c.698C>A (p.Ser233Ter) c.563C>A (p.Ser188Ter) c.290C>A (p.Ser97Ter) | gnomAD v4 |
6 | g.107245553A>C | CA365323025 | PDSS2 | c.697T>G (p.Ser233Ala) c.562T>G (p.Ser188Ala) c.289T>G (p.Ser97Ala) | |
6 | g.107245553A>G | CA365323026 | PDSS2 | c.697T>C (p.Ser233Pro) c.562T>C (p.Ser188Pro) c.289T>C (p.Ser97Pro) | gnomAD v4 |
6 | g.107245553A>T | CA365323027 | PDSS2 | c.697T>A (p.Ser233Thr) c.562T>A (p.Ser188Thr) c.289T>A (p.Ser97Thr) | |
6 | g.107245554A= | CA1653773734 | PDSS2 | c.696T= (p.Thr232=) c.561T= (p.Thr187=) c.288T= (p.Thr96=) | |
6 | g.107245554A>C | CA451564116 | PDSS2 | c.696T>G (p.Thr232=) c.561T>G (p.Thr187=) c.288T>G (p.Thr96=) | |
6 | g.107245554A>G | CA3946051 | PDSS2 | c.696T>C (p.Thr232=) c.561T>C (p.Thr187=) c.288T>C (p.Thr96=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245554A>T | CA451564121 | PDSS2 | c.696T>A (p.Thr232=) c.561T>A (p.Thr187=) c.288T>A (p.Thr96=) | |
6 | g.107245555G>A | CA365323028 | PDSS2 | c.695C>T (p.Thr232Ile) c.560C>T (p.Thr187Ile) c.287C>T (p.Thr96Ile) | dbSNP |
6 | g.107245555G>C | CA365323029 | PDSS2 | c.695C>G (p.Thr232Ser) c.560C>G (p.Thr187Ser) c.287C>G (p.Thr96Ser) | |
6 | g.107245555G= | CA1653773737 | PDSS2 | c.695C= (p.Thr232=) c.560C= (p.Thr187=) c.287C= (p.Thr96=) | |
6 | g.107245555G>T | CA365323030 | PDSS2 | c.695C>A (p.Thr232Asn) c.560C>A (p.Thr187Asn) c.287C>A (p.Thr96Asn) | gnomAD v4 |
6 | g.107245556T>A | CA365323031 | PDSS2 | c.694A>T (p.Thr232Ser) c.559A>T (p.Thr187Ser) c.286A>T (p.Thr96Ser) | |
6 | g.107245556T>C | CA365323032 | PDSS2 | c.694A>G (p.Thr232Ala) c.559A>G (p.Thr187Ala) c.286A>G (p.Thr96Ala) | gnomAD v4 |
6 | g.107245556T>G | CA365323033 | PDSS2 | c.694A>C (p.Thr232Pro) c.559A>C (p.Thr187Pro) c.286A>C (p.Thr96Pro) | |
6 | g.107245557A>C | CA451564133 | PDSS2 | c.693T>G (p.Ser231=) c.558T>G (p.Ser186=) c.285T>G (p.Ser95=) | |
6 | g.107245557A>G | CA451564137 | PDSS2 | c.693T>C (p.Ser231=) c.558T>C (p.Ser186=) c.285T>C (p.Ser95=) | gnomAD v4 |
6 | g.107245557A>T | CA451564135 | PDSS2 | c.693T>A (p.Ser231=) c.558T>A (p.Ser186=) c.285T>A (p.Ser95=) | |
6 | g.107245558G>A | CA365323034 | PDSS2 | c.692C>T (p.Ser231Phe) c.557C>T (p.Ser186Phe) c.284C>T (p.Ser95Phe) | |
6 | g.107245558G>C | CA365323036 | PDSS2 | c.692C>G (p.Ser231Cys) c.557C>G (p.Ser186Cys) c.284C>G (p.Ser95Cys) | |
6 | g.107245558G>T | CA365323035 | PDSS2 | c.692C>A (p.Ser231Tyr) c.557C>A (p.Ser186Tyr) c.284C>A (p.Ser95Tyr) | gnomAD v4 COSMIC |
6 | g.107245559A>C | CA365323037 | PDSS2 | c.691T>G (p.Ser231Ala) c.556T>G (p.Ser186Ala) c.283T>G (p.Ser95Ala) | |
6 | g.107245559A>G | CA365323038 | PDSS2 | c.691T>C (p.Ser231Pro) c.556T>C (p.Ser186Pro) c.283T>C (p.Ser95Pro) | |
6 | g.107245559A>T | CA365323039 | PDSS2 | c.691T>A (p.Ser231Thr) c.556T>A (p.Ser186Thr) c.283T>A (p.Ser95Thr) | |
6 | g.107245560A>C | CA365323040 | PDSS2 | c.690T>G (p.Asn230Lys) c.555T>G (p.Asn185Lys) c.282T>G (p.Asn94Lys) | |
6 | g.107245560A>G | CA451564155 | PDSS2 | c.690T>C (p.Asn230=) c.555T>C (p.Asn185=) c.282T>C (p.Asn94=) | gnomAD v4 |
6 | g.107245560A>T | CA365323041 | PDSS2 | c.690T>A (p.Asn230Lys) c.555T>A (p.Asn185Lys) c.282T>A (p.Asn94Lys) | |
6 | g.107245561T>A | CA365323042 | PDSS2 | c.689A>T (p.Asn230Ile) c.554A>T (p.Asn185Ile) c.281A>T (p.Asn94Ile) | |
6 | g.107245561T>C | CA365323043 | PDSS2 | c.689A>G (p.Asn230Ser) c.554A>G (p.Asn185Ser) c.281A>G (p.Asn94Ser) | |
6 | g.107245561T>G | CA365323044 | PDSS2 | c.689A>C (p.Asn230Thr) c.554A>C (p.Asn185Thr) c.281A>C (p.Asn94Thr) | |
6 | g.107245562T>A | CA365323045 | PDSS2 | c.688A>T (p.Asn230Tyr) c.553A>T (p.Asn185Tyr) c.280A>T (p.Asn94Tyr) | |
6 | g.107245562T>C | CA365323046 | PDSS2 | c.688A>G (p.Asn230Asp) c.553A>G (p.Asn185Asp) c.280A>G (p.Asn94Asp) | |
6 | g.107245562T>G | CA365323047 | PDSS2 | c.688A>C (p.Asn230His) c.553A>C (p.Asn185His) c.280A>C (p.Asn94His) | |
6 | g.107245563T>A | CA365323049 | PDSS2 | c.687A>T (p.Glu229Asp) c.552A>T (p.Glu184Asp) c.279A>T (p.Glu93Asp) | |
6 | g.107245563T>C | CA451564190 | PDSS2 | c.687A>G (p.Glu229=) c.552A>G (p.Glu184=) c.279A>G (p.Glu93=) | |
6 | g.107245563T>G | CA365323048 | PDSS2 | c.687A>C (p.Glu229Asp) c.552A>C (p.Glu184Asp) c.279A>C (p.Glu93Asp) | |
6 | g.107245564T>A | CA365323050 | PDSS2 | c.686A>T (p.Glu229Val) c.551A>T (p.Glu184Val) c.278A>T (p.Glu93Val) | |
6 | g.107245564T>C | CA365323052 | PDSS2 | c.686A>G (p.Glu229Gly) c.551A>G (p.Glu184Gly) c.278A>G (p.Glu93Gly) | dbSNP |
6 | g.107245564T>G | CA365323051 | PDSS2 | c.686A>C (p.Glu229Ala) c.551A>C (p.Glu184Ala) c.278A>C (p.Glu93Ala) | |
6 | g.107245564T= | CA1653773739 | PDSS2 | c.686A= (p.Glu229=) c.551A= (p.Glu184=) c.278A= (p.Glu93=) | |
6 | g.107245565C>A | CA365323053 | PDSS2 | c.685G>T (p.Glu229Ter) c.550G>T (p.Glu184Ter) c.277G>T (p.Glu93Ter) | gnomAD v4 |
6 | g.107245565C>G | CA365323054 | PDSS2 | c.685G>C (p.Glu229Gln) c.550G>C (p.Glu184Gln) c.277G>C (p.Glu93Gln) | |
6 | g.107245565C>T | CA365323055 | PDSS2 | c.685G>A (p.Glu229Lys) c.550G>A (p.Glu184Lys) c.277G>A (p.Glu93Lys) | |
6 | g.107245566A>C | CA365323056 | PDSS2 | c.684T>G (p.His228Gln) c.549T>G (p.His183Gln) c.276T>G (p.His92Gln) | |
6 | g.107245566A>G | CA451564203 | PDSS2 | c.684T>C (p.His228=) c.549T>C (p.His183=) c.276T>C (p.His92=) | gnomAD v4 |
6 | g.107245566A>T | CA365323057 | PDSS2 | c.684T>A (p.His228Gln) c.549T>A (p.His183Gln) c.276T>A (p.His92Gln) | |
6 | g.107245567T>A | CA365323058 | PDSS2 | c.683A>T (p.His228Leu) c.548A>T (p.His183Leu) c.275A>T (p.His92Leu) | |
6 | g.107245567T>C | CA365323059 | PDSS2 | c.683A>G (p.His228Arg) c.548A>G (p.His183Arg) c.275A>G (p.His92Arg) | |
6 | g.107245567T>G | CA365323060 | PDSS2 | c.683A>C (p.His228Pro) c.548A>C (p.His183Pro) c.275A>C (p.His92Pro) | |
6 | g.107245568G>A | CA365323061 | PDSS2 | c.682C>T (p.His228Tyr) c.547C>T (p.His183Tyr) c.274C>T (p.His92Tyr) | |
6 | g.107245568G>C | CA365323062 | PDSS2 | c.682C>G (p.His228Asp) c.547C>G (p.His183Asp) c.274C>G (p.His92Asp) | |
6 | g.107245568G>T | CA365323063 | PDSS2 | c.682C>A (p.His228Asn) c.547C>A (p.His183Asn) c.274C>A (p.His92Asn) | gnomAD v4 |
6 | g.107245569A>C | CA365323064 | PDSS2 | c.681T>G (p.Tyr227Ter) c.546T>G (p.Tyr182Ter) c.273T>G (p.Tyr91Ter) | |
6 | g.107245569A>G | CA451564217 | PDSS2 | c.681T>C (p.Tyr227=) c.546T>C (p.Tyr182=) c.273T>C (p.Tyr91=) | gnomAD v4 |
6 | g.107245569A>T | CA365323065 | PDSS2 | c.681T>A (p.Tyr227Ter) c.546T>A (p.Tyr182Ter) c.273T>A (p.Tyr91Ter) | gnomAD v4 |
6 | g.107245570T>A | CA365323066 | PDSS2 | c.680A>T (p.Tyr227Phe) c.545A>T (p.Tyr182Phe) c.272A>T (p.Tyr91Phe) | |
6 | g.107245570T>C | CA365323068 | PDSS2 | c.680A>G (p.Tyr227Cys) c.545A>G (p.Tyr182Cys) c.272A>G (p.Tyr91Cys) | gnomAD v4 |
6 | g.107245570T>G | CA365323067 | PDSS2 | c.680A>C (p.Tyr227Ser) c.545A>C (p.Tyr182Ser) c.272A>C (p.Tyr91Ser) | |
6 | g.107245571A>C | CA365323069 | PDSS2 | c.679T>G (p.Tyr227Asp) c.544T>G (p.Tyr182Asp) c.271T>G (p.Tyr91Asp) | |
6 | g.107245571A>G | CA365323070 | PDSS2 | c.679T>C (p.Tyr227His) c.544T>C (p.Tyr182His) c.271T>C (p.Tyr91His) | gnomAD v4 |
6 | g.107245571A>T | CA365323071 | PDSS2 | c.679T>A (p.Tyr227Asn) c.544T>A (p.Tyr182Asn) c.271T>A (p.Tyr91Asn) | |
6 | g.107245572T>A | CA451564224 | PDSS2 | c.678A>T (p.Val226=) c.543A>T (p.Val181=) c.270A>T (p.Val90=) | |
6 | g.107245572T>C | CA3946052 | PDSS2 | c.678A>G (p.Val226=) c.543A>G (p.Val181=) c.270A>G (p.Val90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245572T>G | CA451564228 | PDSS2 | c.678A>C (p.Val226=) c.543A>C (p.Val181=) c.270A>C (p.Val90=) | |
6 | g.107245572T= | CA1653773744 | PDSS2 | c.678A= (p.Val226=) c.543A= (p.Val181=) c.270A= (p.Val90=) | |
6 | g.107245573A>C | CA365323072 | PDSS2 | c.677T>G (p.Val226Gly) c.542T>G (p.Val181Gly) c.269T>G (p.Val90Gly) | |
6 | g.107245573A>G | CA365323073 | PDSS2 | c.677T>C (p.Val226Ala) c.542T>C (p.Val181Ala) c.269T>C (p.Val90Ala) | |
6 | g.107245573A>T | CA365323074 | PDSS2 | c.677T>A (p.Val226Glu) c.542T>A (p.Val181Glu) c.269T>A (p.Val90Glu) | gnomAD v4 |
6 | g.107245574C>A | CA365323075 | PDSS2 | c.676G>T (p.Val226Leu) c.541G>T (p.Val181Leu) c.268G>T (p.Val90Leu) | |
6 | g.107245574C= | CA1653773749 | PDSS2 | c.676G= (p.Val226=) c.541G= (p.Val181=) c.268G= (p.Val90=) | |
6 | g.107245574C>G | CA365323076 | PDSS2 | c.676G>C (p.Val226Leu) c.541G>C (p.Val181Leu) c.268G>C (p.Val90Leu) | |
6 | g.107245574C>T | CA3946053 | PDSS2 | c.676G>A (p.Val226Ile) c.541G>A (p.Val181Ile) c.268G>A (p.Val90Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245575T>A | CA451564241 | PDSS2 | c.675A>T (p.Gly225=) c.540A>T (p.Gly180=) c.267A>T (p.Gly89=) | |
6 | g.107245575T>C | CA451564243 | PDSS2 | c.675A>G (p.Gly225=) c.540A>G (p.Gly180=) c.267A>G (p.Gly89=) | gnomAD v4 |
6 | g.107245575T>G | CA451564246 | PDSS2 | c.675A>C (p.Gly225=) c.540A>C (p.Gly180=) c.267A>C (p.Gly89=) | |
6 | g.107245576C>A | CA365323079 | PDSS2 | c.674G>T (p.Gly225Val) c.539G>T (p.Gly180Val) c.266G>T (p.Gly89Val) | |
6 | g.107245576C>G | CA365323078 | PDSS2 | c.674G>C (p.Gly225Ala) c.539G>C (p.Gly180Ala) c.266G>C (p.Gly89Ala) | |
6 | g.107245576C>T | CA365323077 | PDSS2 | c.674G>A (p.Gly225Glu) c.539G>A (p.Gly180Glu) c.266G>A (p.Gly89Glu) | |
6 | g.107245577C>A | CA365323082 | PDSS2 | c.673G>T (p.Gly225Ter) c.538G>T (p.Gly180Ter) c.265G>T (p.Gly89Ter) | |
6 | g.107245577C>G | CA365323080 | PDSS2 | c.673G>C (p.Gly225Arg) c.538G>C (p.Gly180Arg) c.265G>C (p.Gly89Arg) | gnomAD v4 |
6 | g.107245577C>T | CA365323081 | PDSS2 | c.673G>A (p.Gly225Arg) c.538G>A (p.Gly180Arg) c.265G>A (p.Gly89Arg) | |
6 | g.107245578T>A | CA365323083 | PDSS2 | c.672A>T (p.Gln224His) c.537A>T (p.Gln179His) c.264A>T (p.Gln88His) | |
6 | g.107245578T>C | CA3946054 | PDSS2 | c.672A>G (p.Gln224=) c.537A>G (p.Gln179=) c.264A>G (p.Gln88=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245578T>G | CA365323084 | PDSS2 | c.672A>C (p.Gln224His) c.537A>C (p.Gln179His) c.264A>C (p.Gln88His) | |
6 | g.107245578T= | CA1653773751 | PDSS2 | c.672A= (p.Gln224=) c.537A= (p.Gln179=) c.264A= (p.Gln88=) | |
6 | g.107245579T>A | CA365323087 | PDSS2 | c.671A>T (p.Gln224Leu) c.536A>T (p.Gln179Leu) c.263A>T (p.Gln88Leu) | |
6 | g.107245579T>C | CA365323086 | PDSS2 | c.671A>G (p.Gln224Arg) c.536A>G (p.Gln179Arg) c.263A>G (p.Gln88Arg) | |
6 | g.107245579T>G | CA365323085 | PDSS2 | c.671A>C (p.Gln224Pro) c.536A>C (p.Gln179Pro) c.263A>C (p.Gln88Pro) | |
6 | g.107245580G>A | CA365323088 | PDSS2 | c.670C>T (p.Gln224Ter) c.535C>T (p.Gln179Ter) c.262C>T (p.Gln88Ter) | gnomAD v4 |
6 | g.107245580G>C | CA365323089 | PDSS2 | c.670C>G (p.Gln224Glu) c.535C>G (p.Gln179Glu) c.262C>G (p.Gln88Glu) | |
6 | g.107245580G>T | CA365323090 | PDSS2 | c.670C>A (p.Gln224Lys) c.535C>A (p.Gln179Lys) c.262C>A (p.Gln88Lys) | gnomAD v4 |
6 | g.107245581T>A | CA451564265 | PDSS2 | c.669A>T (p.Val223=) c.534A>T (p.Val178=) c.261A>T (p.Val87=) | |
6 | g.107245581T>C | CA451564266 | PDSS2 | c.669A>G (p.Val223=) c.534A>G (p.Val178=) c.261A>G (p.Val87=) | |
6 | g.107245581T>G | CA451564268 | PDSS2 | c.669A>C (p.Val223=) c.534A>C (p.Val178=) c.261A>C (p.Val87=) | |
6 | g.107245582A= | CA1653773752 | PDSS2 | c.668T= (p.Val223=) c.533T= (p.Val178=) c.260T= (p.Val87=) | |
6 | g.107245582A>C | CA365323091 | PDSS2 | c.668T>G (p.Val223Gly) c.533T>G (p.Val178Gly) c.260T>G (p.Val87Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245582A>G | CA365323092 | PDSS2 | c.668T>C (p.Val223Ala) c.533T>C (p.Val178Ala) c.260T>C (p.Val87Ala) | |
6 | g.107245582A>T | CA365323093 | PDSS2 | c.668T>A (p.Val223Glu) c.533T>A (p.Val178Glu) c.260T>A (p.Val87Glu) | |
6 | g.107245583C>A | CA365323094 | PDSS2 | c.667G>T (p.Val223Leu) c.532G>T (p.Val178Leu) c.259G>T (p.Val87Leu) | gnomAD v4 |
6 | g.107245583C= | CA1653773757 | PDSS2 | c.667G= (p.Val223=) c.532G= (p.Val178=) c.259G= (p.Val87=) | |
6 | g.107245583C>G | CA365323095 | PDSS2 | c.667G>C (p.Val223Leu) c.532G>C (p.Val178Leu) c.259G>C (p.Val87Leu) | COSMIC |
6 | g.107245583C>T | CA321989 | PDSS2 | c.667G>A (p.Val223Ile) c.532G>A (p.Val178Ile) c.259G>A (p.Val87Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245584C>A | CA365323096 | PDSS2 | c.666G>T (p.Leu222Phe) c.531G>T (p.Leu177Phe) c.258G>T (p.Leu86Phe) | |
6 | g.107245584C>G | CA365323097 | PDSS2 | c.666G>C (p.Leu222Phe) c.531G>C (p.Leu177Phe) c.258G>C (p.Leu86Phe) | |
6 | g.107245584C>T | CA451564280 | PDSS2 | c.666G>A (p.Leu222=) c.531G>A (p.Leu177=) c.258G>A (p.Leu86=) | gnomAD v4 |
6 | g.107245585A>C | CA365323098 | PDSS2 | c.665T>G (p.Leu222Trp) c.530T>G (p.Leu177Trp) c.257T>G (p.Leu86Trp) | |
6 | g.107245585A>G | CA365323099 | PDSS2 | c.665T>C (p.Leu222Ser) c.530T>C (p.Leu177Ser) c.257T>C (p.Leu86Ser) | gnomAD v4 |
6 | g.107245585A>T | CA365323100 | PDSS2 | c.665T>A (p.Leu222Ter) c.530T>A (p.Leu177Ter) c.257T>A (p.Leu86Ter) | |
6 | g.107245586A>C | CA365323101 | PDSS2 | c.664T>G (p.Leu222Val) c.529T>G (p.Leu177Val) c.256T>G (p.Leu86Val) | |
6 | g.107245586A>G | CA451564288 | PDSS2 | c.664T>C (p.Leu222=) c.529T>C (p.Leu177=) c.256T>C (p.Leu86=) | |
6 | g.107245586A>T | CA365323102 | PDSS2 | c.664T>A (p.Leu222Met) c.529T>A (p.Leu177Met) c.256T>A (p.Leu86Met) | |
6 | g.107245587G>A | CA451564294 | PDSS2 | c.663C>T (p.Asp221=) c.528C>T (p.Asp176=) c.255C>T (p.Asp85=) | gnomAD v4 |
6 | g.107245587G>C | CA365323103 | PDSS2 | c.663C>G (p.Asp221Glu) c.528C>G (p.Asp176Glu) c.255C>G (p.Asp85Glu) | gnomAD v4 |
6 | g.107245587G>T | CA365323104 | PDSS2 | c.663C>A (p.Asp221Glu) c.528C>A (p.Asp176Glu) c.255C>A (p.Asp85Glu) | gnomAD v4 |
6 | g.107245588T>A | CA365323105 | PDSS2 | c.662A>T (p.Asp221Val) c.527A>T (p.Asp176Val) c.254A>T (p.Asp85Val) | |
6 | g.107245588T>C | CA365323106 | PDSS2 | c.662A>G (p.Asp221Gly) c.527A>G (p.Asp176Gly) c.254A>G (p.Asp85Gly) | gnomAD v4 |
6 | g.107245588T>G | CA365323107 | PDSS2 | c.662A>C (p.Asp221Ala) c.527A>C (p.Asp176Ala) c.254A>C (p.Asp85Ala) | |
6 | g.107245589C>A | CA365323108 | PDSS2 | c.661G>T (p.Asp221Tyr) c.526G>T (p.Asp176Tyr) c.253G>T (p.Asp85Tyr) | |
6 | g.107245589C= | CA1653773760 | PDSS2 | c.661G= (p.Asp221=) c.526G= (p.Asp176=) c.253G= (p.Asp85=) | |
6 | g.107245589C>G | CA365323109 | PDSS2 | c.661G>C (p.Asp221His) c.526G>C (p.Asp176His) c.253G>C (p.Asp85His) | |
6 | g.107245589C>T | CA3946055 | PDSS2 | c.661G>A (p.Asp221Asn) c.526G>A (p.Asp176Asn) c.253G>A (p.Asp85Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245590C>A | CA365323110 | PDSS2 | c.660G>T (p.Met220Ile) c.525G>T (p.Met175Ile) c.252G>T (p.Met84Ile) | |
6 | g.107245590C>G | CA365323112 | PDSS2 | c.660G>C (p.Met220Ile) c.525G>C (p.Met175Ile) c.252G>C (p.Met84Ile) | |
6 | g.107245590C>T | CA365323111 | PDSS2 | c.660G>A (p.Met220Ile) c.525G>A (p.Met175Ile) c.252G>A (p.Met84Ile) | gnomAD v4 |
6 | g.107245591A= | CA1653773762 | PDSS2 | c.659T= (p.Met220=) c.524T= (p.Met175=) c.251T= (p.Met84=) | |
6 | g.107245591A>C | CA365323113 | PDSS2 | c.659T>G (p.Met220Arg) c.524T>G (p.Met175Arg) c.251T>G (p.Met84Arg) | |
6 | g.107245591A>G | CA365323114 | PDSS2 | c.659T>C (p.Met220Thr) c.524T>C (p.Met175Thr) c.251T>C (p.Met84Thr) | dbSNP gnomAD v4 |
6 | g.107245591A>T | CA365323115 | PDSS2 | c.659T>A (p.Met220Lys) c.524T>A (p.Met175Lys) c.251T>A (p.Met84Lys) | gnomAD v4 |
6 | g.107245592T>A | CA365323116 | PDSS2 | c.658A>T (p.Met220Leu) c.523A>T (p.Met175Leu) c.250A>T (p.Met84Leu) | |
6 | g.107245592T>C | CA365323117 | PDSS2 | c.658A>G (p.Met220Val) c.523A>G (p.Met175Val) c.250A>G (p.Met84Val) | |
6 | g.107245592T>G | CA365323118 | PDSS2 | c.658A>C (p.Met220Leu) c.523A>C (p.Met175Leu) c.250A>C (p.Met84Leu) | |
6 | g.107245593A>C | CA451564312 | PDSS2 | c.657T>G (p.Leu219=) c.522T>G (p.Leu174=) c.249T>G (p.Leu83=) | |
6 | g.107245593A>G | CA451564315 | PDSS2 | c.657T>C (p.Leu219=) c.522T>C (p.Leu174=) c.249T>C (p.Leu83=) | gnomAD v4 |
6 | g.107245593A>T | CA451564317 | PDSS2 | c.657T>A (p.Leu219=) c.522T>A (p.Leu174=) c.249T>A (p.Leu83=) | |
6 | g.107245594A>C | CA365323119 | PDSS2 | c.656T>G (p.Leu219Arg) c.521T>G (p.Leu174Arg) c.248T>G (p.Leu83Arg) | |
6 | g.107245594A>G | CA365323120 | PDSS2 | c.656T>C (p.Leu219Pro) c.521T>C (p.Leu174Pro) c.248T>C (p.Leu83Pro) | gnomAD v4 |
6 | g.107245594A>T | CA365323121 | PDSS2 | c.656T>A (p.Leu219His) c.521T>A (p.Leu174His) c.248T>A (p.Leu83His) | |
6 | g.107245595G>A | CA365323122 | PDSS2 | c.655C>T (p.Leu219Phe) c.520C>T (p.Leu174Phe) c.247C>T (p.Leu83Phe) | gnomAD v4 |
6 | g.107245595G>C | CA365323123 | PDSS2 | c.655C>G (p.Leu219Val) c.520C>G (p.Leu174Val) c.247C>G (p.Leu83Val) | gnomAD v4 |
6 | g.107245595G>T | CA365323124 | PDSS2 | c.655C>A (p.Leu219Ile) c.520C>A (p.Leu174Ile) c.247C>A (p.Leu83Ile) | |
6 | g.107245596A>C | CA451564322 | PDSS2 | c.654T>G (p.Ala218=) c.519T>G (p.Ala173=) c.246T>G (p.Ala82=) | |
6 | g.107245596A>G | CA451564324 | PDSS2 | c.654T>C (p.Ala218=) c.519T>C (p.Ala173=) c.246T>C (p.Ala82=) | gnomAD v4 |
6 | g.107245596A>T | CA451564325 | PDSS2 | c.654T>A (p.Ala218=) c.519T>A (p.Ala173=) c.246T>A (p.Ala82=) | |
6 | g.107245597G>A | CA365323127 | PDSS2 | c.653C>T (p.Ala218Val) c.518C>T (p.Ala173Val) c.245C>T (p.Ala82Val) | gnomAD v4 |
6 | g.107245597G>C | CA365323125 | PDSS2 | c.653C>G (p.Ala218Gly) c.518C>G (p.Ala173Gly) c.245C>G (p.Ala82Gly) | |
6 | g.107245597G>T | CA365323126 | PDSS2 | c.653C>A (p.Ala218Asp) c.518C>A (p.Ala173Asp) c.245C>A (p.Ala82Asp) | gnomAD v4 |
6 | g.107245598C>A | CA365323128 | PDSS2 | c.652G>T (p.Ala218Ser) c.517G>T (p.Ala173Ser) c.244G>T (p.Ala82Ser) | |
6 | g.107245598C= | CA1653773765 | PDSS2 | c.652G= (p.Ala218=) c.517G= (p.Ala173=) c.244G= (p.Ala82=) | |
6 | g.107245598C>G | CA365323129 | PDSS2 | c.652G>C (p.Ala218Pro) c.517G>C (p.Ala173Pro) c.244G>C (p.Ala82Pro) | |
6 | g.107245598C>T | CA365323130 | PDSS2 | c.652G>A (p.Ala218Thr) c.517G>A (p.Ala173Thr) c.244G>A (p.Ala82Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245599A>C | CA365323131 | PDSS2 | c.651T>G (p.Ser217Arg) c.516T>G (p.Ser172Arg) c.243T>G (p.Ser81Arg) | |
6 | g.107245599A>G | CA451564330 | PDSS2 | c.651T>C (p.Ser217=) c.516T>C (p.Ser172=) c.243T>C (p.Ser81=) | gnomAD v4 |
6 | g.107245599A>T | CA365323132 | PDSS2 | c.651T>A (p.Ser217Arg) c.516T>A (p.Ser172Arg) c.243T>A (p.Ser81Arg) | |
6 | g.107245600C>A | CA365323133 | PDSS2 | c.650G>T (p.Ser217Ile) c.515G>T (p.Ser172Ile) c.242G>T (p.Ser81Ile) | |
6 | g.107245600C>G | CA365323134 | PDSS2 | c.650G>C (p.Ser217Thr) c.515G>C (p.Ser172Thr) c.242G>C (p.Ser81Thr) | |
6 | g.107245600C>T | CA365323135 | PDSS2 | c.650G>A (p.Ser217Asn) c.515G>A (p.Ser172Asn) c.242G>A (p.Ser81Asn) | gnomAD v4 |
6 | g.107245601T>A | CA365323136 | PDSS2 | c.649A>T (p.Ser217Cys) c.514A>T (p.Ser172Cys) c.241A>T (p.Ser81Cys) | |
6 | g.107245601T>C | CA365323137 | PDSS2 | c.649A>G (p.Ser217Gly) c.514A>G (p.Ser172Gly) c.241A>G (p.Ser81Gly) | |
6 | g.107245601T>G | CA365323138 | PDSS2 | c.649A>C (p.Ser217Arg) c.514A>C (p.Ser172Arg) c.241A>C (p.Ser81Arg) | |
6 | g.107245602T>A | CA451564335 | PDSS2 | c.648A>T (p.Ala216=) c.513A>T (p.Ala171=) c.240A>T (p.Ala80=) | |
6 | g.107245602T>C | CA451564336 | PDSS2 | c.648A>G (p.Ala216=) c.513A>G (p.Ala171=) c.240A>G (p.Ala80=) | dbSNP gnomAD v4 |
6 | g.107245602T>G | CA451564339 | PDSS2 | c.648A>C (p.Ala216=) c.513A>C (p.Ala171=) c.240A>C (p.Ala80=) | |
6 | g.107245603G>A | CA365323141 | PDSS2 | c.647C>T (p.Ala216Val) c.512C>T (p.Ala171Val) c.239C>T (p.Ala80Val) | gnomAD v4 |
6 | g.107245603G>C | CA365323140 | PDSS2 | c.647C>G (p.Ala216Gly) c.512C>G (p.Ala171Gly) c.239C>G (p.Ala80Gly) | |
6 | g.107245603G>T | CA365323139 | PDSS2 | c.647C>A (p.Ala216Glu) c.512C>A (p.Ala171Glu) c.239C>A (p.Ala80Glu) | gnomAD v4 |
6 | g.107245604C>A | CA365323142 | PDSS2 | c.646G>T (p.Ala216Ser) c.511G>T (p.Ala171Ser) c.238G>T (p.Ala80Ser) | dbSNP gnomAD v4 |
6 | g.107245604C= | CA1653773767 | PDSS2 | c.646G= (p.Ala216=) c.511G= (p.Ala171=) c.238G= (p.Ala80=) | |
6 | g.107245604C>G | CA3946056 | PDSS2 | c.646G>C (p.Ala216Pro) c.511G>C (p.Ala171Pro) c.238G>C (p.Ala80Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245604C>T | CA365323143 | PDSS2 | c.646G>A (p.Ala216Thr) c.511G>A (p.Ala171Thr) c.238G>A (p.Ala80Thr) | |
6 | g.107245605T>A | CA365323144 | PDSS2 | c.645A>T (p.Leu215Phe) c.510A>T (p.Leu170Phe) c.237A>T (p.Leu79Phe) | |
6 | g.107245605T>C | CA451564347 | PDSS2 | c.645A>G (p.Leu215=) c.510A>G (p.Leu170=) c.237A>G (p.Leu79=) | gnomAD v4 |
6 | g.107245605T>G | CA365323145 | PDSS2 | c.645A>C (p.Leu215Phe) c.510A>C (p.Leu170Phe) c.237A>C (p.Leu79Phe) | |
6 | g.107245606A>C | CA365323146 | PDSS2 | c.644T>G (p.Leu215Ter) c.509T>G (p.Leu170Ter) c.236T>G (p.Leu79Ter) | |
6 | g.107245606A>G | CA365323147 | PDSS2 | c.644T>C (p.Leu215Ser) c.509T>C (p.Leu170Ser) c.236T>C (p.Leu79Ser) | gnomAD v4 |
6 | g.107245606A>T | CA365323148 | PDSS2 | c.644T>A (p.Leu215Ter) c.509T>A (p.Leu170Ter) c.236T>A (p.Leu79Ter) | |
6 | g.107245609del | CA2679875458 | PDSS2 | c.644del (p.Leu215Ter) c.509del (p.Leu170Ter) c.236del (p.Leu79Ter) | gnomAD v4 |
6 | g.107245607A= | CA1653773772 | PDSS2 | c.643T= (p.Leu215=) c.508T= (p.Leu170=) c.235T= (p.Leu79=) | |
6 | g.107245607A>C | CA365323149 | PDSS2 | c.643T>G (p.Leu215Val) c.508T>G (p.Leu170Val) c.235T>G (p.Leu79Val) | gnomAD v4 |
6 | g.107245607A>G | CA451564355 | PDSS2 | c.643T>C (p.Leu215=) c.508T>C (p.Leu170=) c.235T>C (p.Leu79=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.107245607A>T | CA365323150 | PDSS2 | c.643T>A (p.Leu215Ile) c.508T>A (p.Leu170Ile) c.235T>A (p.Leu79Ile) | |
6 | g.107245608A>C | CA451564360 | PDSS2 | c.642T>G (p.Leu214=) c.507T>G (p.Leu169=) c.234T>G (p.Leu78=) | |
6 | g.107245608A>G | CA451564362 | PDSS2 | c.642T>C (p.Leu214=) c.507T>C (p.Leu169=) c.234T>C (p.Leu78=) | |
6 | g.107245608A>T | CA451564364 | PDSS2 | c.642T>A (p.Leu214=) c.507T>A (p.Leu169=) c.234T>A (p.Leu78=) | |
6 | g.107245609A>C | CA365323151 | PDSS2 | c.641T>G (p.Leu214Arg) c.506T>G (p.Leu169Arg) c.233T>G (p.Leu78Arg) | gnomAD v4 |
6 | g.107245609A>G | CA365323152 | PDSS2 | c.641T>C (p.Leu214Pro) c.506T>C (p.Leu169Pro) c.233T>C (p.Leu78Pro) | |
6 | g.107245609A>T | CA365323153 | PDSS2 | c.641T>A (p.Leu214His) c.506T>A (p.Leu169His) c.233T>A (p.Leu78His) | |
6 | g.107245610G>A | CA365323156 | PDSS2 | c.640C>T (p.Leu214Phe) c.505C>T (p.Leu169Phe) c.232C>T (p.Leu78Phe) | gnomAD v4 |
6 | g.107245610G>C | CA365323154 | PDSS2 | c.640C>G (p.Leu214Val) c.505C>G (p.Leu169Val) c.232C>G (p.Leu78Val) | ClinVar |
6 | g.107245610G>T | CA365323155 | PDSS2 | c.640C>A (p.Leu214Ile) c.505C>A (p.Leu169Ile) c.232C>A (p.Leu78Ile) | gnomAD v4 |
6 | g.107245611T>A | CA365323157 | PDSS2 | c.639A>T (p.Glu213Asp) c.504A>T (p.Glu168Asp) c.231A>T (p.Glu77Asp) | |
6 | g.107245611T>C | CA451564374 | PDSS2 | c.639A>G (p.Glu213=) c.504A>G (p.Glu168=) c.231A>G (p.Glu77=) | gnomAD v4 |
6 | g.107245611T>G | CA365323158 | PDSS2 | c.639A>C (p.Glu213Asp) c.504A>C (p.Glu168Asp) c.231A>C (p.Glu77Asp) | |
6 | g.107245612T>A | CA365323159 | PDSS2 | c.638A>T (p.Glu213Val) c.503A>T (p.Glu168Val) c.230A>T (p.Glu77Val) | |
6 | g.107245612T>C | CA3946057 | PDSS2 | c.638A>G (p.Glu213Gly) c.503A>G (p.Glu168Gly) c.230A>G (p.Glu77Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245612T>G | CA365323160 | PDSS2 | c.638A>C (p.Glu213Ala) c.503A>C (p.Glu168Ala) c.230A>C (p.Glu77Ala) | |
6 | g.107245612T= | CA1653773775 | PDSS2 | c.638A= (p.Glu213=) c.503A= (p.Glu168=) c.230A= (p.Glu77=) | |
6 | g.107245613C>A | CA365323161 | PDSS2 | c.637G>T (p.Glu213Ter) c.502G>T (p.Glu168Ter) c.229G>T (p.Glu77Ter) | gnomAD v4 |
6 | g.107245613C>G | CA365323162 | PDSS2 | c.637G>C (p.Glu213Gln) c.502G>C (p.Glu168Gln) c.229G>C (p.Glu77Gln) | gnomAD v4 |
6 | g.107245613C>T | CA365323163 | PDSS2 | c.637G>A (p.Glu213Lys) c.502G>A (p.Glu168Lys) c.229G>A (p.Glu77Lys) | dbSNP gnomAD v4 |
6 | g.107245614del | CA2679875459 | PDSS2 | c.637del (p.Glu213AsnfsTer3) c.502del (p.Glu168AsnfsTer3) c.229del (p.Glu77AsnfsTer3) | gnomAD v4 |
6 | g.107245614C>A | CA451564386 | PDSS2 | c.636G>T (p.Val212=) c.501G>T (p.Val167=) c.228G>T (p.Val76=) | |
6 | g.107245614C>G | CA451564388 | PDSS2 | c.636G>C (p.Val212=) c.501G>C (p.Val167=) c.228G>C (p.Val76=) | |
6 | g.107245614C>T | CA451564390 | PDSS2 | c.636G>A (p.Val212=) c.501G>A (p.Val167=) c.228G>A (p.Val76=) | gnomAD v4 |
6 | g.107245615A= | CA1653773777 | PDSS2 | c.635T= (p.Val212=) c.500T= (p.Val167=) c.227T= (p.Val76=) | |
6 | g.107245615A>C | CA365323164 | PDSS2 | c.635T>G (p.Val212Gly) c.500T>G (p.Val167Gly) c.227T>G (p.Val76Gly) | |
6 | g.107245615A>G | CA3946058 | PDSS2 | c.635T>C (p.Val212Ala) c.500T>C (p.Val167Ala) c.227T>C (p.Val76Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245615A>T | CA365323165 | PDSS2 | c.635T>A (p.Val212Glu) c.500T>A (p.Val167Glu) c.227T>A (p.Val76Glu) | gnomAD v4 |
6 | g.107245616C>A | CA365323168 | PDSS2 | c.634G>T (p.Val212Leu) c.499G>T (p.Val167Leu) c.226G>T (p.Val76Leu) | gnomAD v4 |
6 | g.107245616C>G | CA365323167 | PDSS2 | c.634G>C (p.Val212Leu) c.499G>C (p.Val167Leu) c.226G>C (p.Val76Leu) | gnomAD v4 |
6 | g.107245616C>T | CA365323166 | PDSS2 | c.634G>A (p.Val212Met) c.499G>A (p.Val167Met) c.226G>A (p.Val76Met) | gnomAD v4 |
6 | g.107245617A>C | CA451564407 | PDSS2 | c.633T>G (p.Val211=) c.498T>G (p.Val166=) c.225T>G (p.Val75=) | |
6 | g.107245617A>G | CA451564415 | PDSS2 | c.633T>C (p.Val211=) c.498T>C (p.Val166=) c.225T>C (p.Val75=) | |
6 | g.107245617A>T | CA451564418 | PDSS2 | c.633T>A (p.Val211=) c.498T>A (p.Val166=) c.225T>A (p.Val75=) | |
6 | g.107245618A= | CA1653773782 | PDSS2 | c.632T= (p.Val211=) c.497T= (p.Val166=) c.224T= (p.Val75=) | |
6 | g.107245618A>C | CA365323169 | PDSS2 | c.632T>G (p.Val211Gly) c.497T>G (p.Val166Gly) c.224T>G (p.Val75Gly) | gnomAD v4 |
6 | g.107245618A>G | CA365323171 | PDSS2 | c.632T>C (p.Val211Ala) c.497T>C (p.Val166Ala) c.224T>C (p.Val75Ala) | dbSNP gnomAD v4 |
6 | g.107245618A>T | CA365323170 | PDSS2 | c.632T>A (p.Val211Asp) c.497T>A (p.Val166Asp) c.224T>A (p.Val75Asp) | |
6 | g.107245619C>A | CA365323172 | PDSS2 | c.631G>T (p.Val211Phe) c.496G>T (p.Val166Phe) c.223G>T (p.Val75Phe) | |
6 | g.107245619C>G | CA365323174 | PDSS2 | c.631G>C (p.Val211Leu) c.496G>C (p.Val166Leu) c.223G>C (p.Val75Leu) | |
6 | g.107245619C>T | CA365323173 | PDSS2 | c.631G>A (p.Val211Ile) c.496G>A (p.Val166Ile) c.223G>A (p.Val75Ile) | gnomAD v4 |
6 | g.107245620C>A | CA365323175 | PDSS2 | c.631-1G>T (n.631-1G>T) c.496-1G>T (n.496-1G>T) c.223-1G>T (n.223-1G>T) | gnomAD v4 |
6 | g.107245620C= | CA1653773784 | PDSS2 | c.631-1G= (n.631-1G=) c.496-1G= (n.496-1G=) c.223-1G= (n.223-1G=) | |
6 | g.107245620C>G | CA365323176 | PDSS2 | c.631-1G>C (n.631-1G>C) c.496-1G>C (n.496-1G>C) c.223-1G>C (n.223-1G>C) | |
6 | g.107245620C>T | CA3946059 | PDSS2 | c.631-1G>A (n.631-1G>A) c.496-1G>A (n.496-1G>A) c.223-1G>A (n.223-1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245621T>A | CA3946060 | PDSS2 | c.631-2A>T (n.631-2A>T) c.496-2A>T (n.496-2A>T) c.223-2A>T (n.223-2A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245621T>C | CA365323178 | PDSS2 | c.631-2A>G (n.631-2A>G) c.496-2A>G (n.496-2A>G) c.223-2A>G (n.223-2A>G) | gnomAD v4 |
6 | g.107245621T>G | CA365323177 | PDSS2 | c.631-2A>C (n.631-2A>C) c.496-2A>C (n.496-2A>C) c.223-2A>C (n.223-2A>C) | |
6 | g.107245621T= | CA1653773788 | PDSS2 | c.631-2A= (n.631-2A=) c.496-2A= (n.496-2A=) c.223-2A= (n.223-2A=) | |
6 | g.107245626del | CA2679875460 | PDSS2 | c.631-3del (n.631-3del) c.496-3del (n.496-3del) c.223-3del (n.223-3del) | gnomAD v4 |
6 | g.107245624_107245625insCCAAACACACCCAACAC | CA2772514129 | PDSS2 | c.631-6_631-5insGTGTTGGGTGTGTTTGG (n.631-6_631-5insGTGTTGGGTGTGTTTGG) c.496-6_496-5insGTGTTGGGTGTGTTTGG (n.496-6_496-5insGTGTTGGGTGTGTTTGG) c.223-6_223-5insGTGTTGGGTGTGTTTGG (n.223-6_223-5insGTGTTGGGTGTGTTTGG) | |
6 | g.107245625A= | CA1653773790 | PDSS2 | c.631-6T= (n.631-6T=) c.496-6T= (n.496-6T=) c.223-6T= (n.223-6T=) | |
6 | g.107245625A>G | CA2679875461 | PDSS2 | c.631-6T>C (n.631-6T>C) c.496-6T>C (n.496-6T>C) c.223-6T>C (n.223-6T>C) | gnomAD v4 |
6 | g.107245625A>T | CA3946061 | PDSS2 | c.631-6T>A (n.631-6T>A) c.496-6T>A (n.496-6T>A) c.223-6T>A (n.223-6T>A) | dbSNP ExAC gnomAD v4 |
6 | g.107245626A>G | CA2679875462 | PDSS2 | c.631-7T>C (n.631-7T>C) c.496-7T>C (n.496-7T>C) c.223-7T>C (n.223-7T>C) | gnomAD v4 |
6 | g.107245627G>A | CA2578825651 | PDSS2 | c.631-8C>T (n.631-8C>T) c.496-8C>T (n.496-8C>T) c.223-8C>T (n.223-8C>T) | ClinVar |
6 | g.107245627G>T | CA2679875463 | PDSS2 | c.631-8C>A (n.631-8C>A) c.496-8C>A (n.496-8C>A) c.223-8C>A (n.223-8C>A) | gnomAD v4 |
6 | g.107245628C>G | CA2679875464 | PDSS2 | c.631-9G>C (n.631-9G>C) c.496-9G>C (n.496-9G>C) c.223-9G>C (n.223-9G>C) | gnomAD v4 |
6 | g.107245628C>T | CA2679875465 | PDSS2 | c.631-9G>A (n.631-9G>A) c.496-9G>A (n.496-9G>A) c.223-9G>A (n.223-9G>A) | gnomAD v4 |
6 | g.107245629A>G | CA2679875466 | PDSS2 | c.631-10T>C (n.631-10T>C) c.496-10T>C (n.496-10T>C) c.223-10T>C (n.223-10T>C) | gnomAD v4 |
6 | g.107245634_107245636del | CA2578825652 | PDSS2 | c.631-12_631-10del (n.631-12_631-10del) c.496-12_496-10del (n.496-12_496-10del) c.223-12_223-10del (n.223-12_223-10del) | |
6 | g.107245630A>G | CA2679875467 | PDSS2 | c.631-11T>C (n.631-11T>C) c.496-11T>C (n.496-11T>C) c.223-11T>C (n.223-11T>C) | gnomAD v4 |
6 | g.107245631G>A | CA816881739 | PDSS2 | c.631-12C>T (n.631-12C>T) c.496-12C>T (n.496-12C>T) c.223-12C>T (n.223-12C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245631G= | CA1653773792 | PDSS2 | c.631-12C= (n.631-12C=) c.496-12C= (n.496-12C=) c.223-12C= (n.223-12C=) | |
6 | g.107245631G>T | CA2679875468 | PDSS2 | c.631-12C>A (n.631-12C>A) c.496-12C>A (n.496-12C>A) c.223-12C>A (n.223-12C>A) | gnomAD v4 |
6 | g.107245632A>G | CA2679875469 | PDSS2 | c.631-13T>C (n.631-13T>C) c.496-13T>C (n.496-13T>C) c.223-13T>C (n.223-13T>C) | gnomAD v4 |