Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21841046T>CCA19106768HSPG2c.9513+55A>G (n.9513+55A>G)
c.9516+55A>G (n.9516+55A>G)
c.10059+55A>G (n.10059+55A>G)
c.10011+55A>G (n.10011+55A>G)
c.9990+55A>G (n.9990+55A>G)
c.10062+55A>G (n.10062+55A>G)
c.9783+55A>G (n.9783+55A>G)
c.9567+55A>G (n.9567+55A>G)
c.9708+55A>G (n.9708+55A>G)
c.9657+55A>G (n.9657+55A>G)
c.9654+55A>G (n.9654+55A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.21841046T=CA1142431532HSPG2c.9513+55A= (n.9513+55A=)
c.9516+55A= (n.9516+55A=)
c.10059+55A= (n.10059+55A=)
c.10011+55A= (n.10011+55A=)
c.9990+55A= (n.9990+55A=)
c.10062+55A= (n.10062+55A=)
c.9783+55A= (n.9783+55A=)
c.9567+55A= (n.9567+55A=)
c.9708+55A= (n.9708+55A=)
c.9657+55A= (n.9657+55A=)
c.9654+55A= (n.9654+55A=)
1g.21841047C>ACA2643961645HSPG2c.9513+54G>T (n.9513+54G>T)
c.9516+54G>T (n.9516+54G>T)
c.10059+54G>T (n.10059+54G>T)
c.10011+54G>T (n.10011+54G>T)
c.9990+54G>T (n.9990+54G>T)
c.10062+54G>T (n.10062+54G>T)
c.9783+54G>T (n.9783+54G>T)
c.9567+54G>T (n.9567+54G>T)
c.9708+54G>T (n.9708+54G>T)
c.9657+54G>T (n.9657+54G>T)
c.9654+54G>T (n.9654+54G>T)
 gnomAD v4
1g.21841047C=CA1158133597HSPG2c.9513+54G= (n.9513+54G=)
c.9516+54G= (n.9516+54G=)
c.10059+54G= (n.10059+54G=)
c.10011+54G= (n.10011+54G=)
c.9990+54G= (n.9990+54G=)
c.10062+54G= (n.10062+54G=)
c.9783+54G= (n.9783+54G=)
c.9567+54G= (n.9567+54G=)
c.9708+54G= (n.9708+54G=)
c.9657+54G= (n.9657+54G=)
c.9654+54G= (n.9654+54G=)
1g.21841047C>GCA2643961642HSPG2c.9513+54G>C (n.9513+54G>C)
c.9516+54G>C (n.9516+54G>C)
c.10059+54G>C (n.10059+54G>C)
c.10011+54G>C (n.10011+54G>C)
c.9990+54G>C (n.9990+54G>C)
c.10062+54G>C (n.10062+54G>C)
c.9783+54G>C (n.9783+54G>C)
c.9567+54G>C (n.9567+54G>C)
c.9708+54G>C (n.9708+54G>C)
c.9657+54G>C (n.9657+54G>C)
c.9654+54G>C (n.9654+54G>C)
 gnomAD v4
1g.21841047C>TCA19106771HSPG2c.9513+54G>A (n.9513+54G>A)
c.9516+54G>A (n.9516+54G>A)
c.10059+54G>A (n.10059+54G>A)
c.10011+54G>A (n.10011+54G>A)
c.9990+54G>A (n.9990+54G>A)
c.10062+54G>A (n.10062+54G>A)
c.9783+54G>A (n.9783+54G>A)
c.9567+54G>A (n.9567+54G>A)
c.9708+54G>A (n.9708+54G>A)
c.9657+54G>A (n.9657+54G>A)
c.9654+54G>A (n.9654+54G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.21841048A>CCA2643961646HSPG2c.9513+53T>G (n.9513+53T>G)
c.9516+53T>G (n.9516+53T>G)
c.10059+53T>G (n.10059+53T>G)
c.10011+53T>G (n.10011+53T>G)
c.9990+53T>G (n.9990+53T>G)
c.10062+53T>G (n.10062+53T>G)
c.9783+53T>G (n.9783+53T>G)
c.9567+53T>G (n.9567+53T>G)
c.9708+53T>G (n.9708+53T>G)
c.9657+53T>G (n.9657+53T>G)
c.9654+53T>G (n.9654+53T>G)
 gnomAD v4
1g.21841051G>ACA670415HSPG2c.9513+50C>T (n.9513+50C>T)
c.9516+50C>T (n.9516+50C>T)
c.10059+50C>T (n.10059+50C>T)
c.10011+50C>T (n.10011+50C>T)
c.9990+50C>T (n.9990+50C>T)
c.10062+50C>T (n.10062+50C>T)
c.9783+50C>T (n.9783+50C>T)
c.9567+50C>T (n.9567+50C>T)
c.9708+50C>T (n.9708+50C>T)
c.9657+50C>T (n.9657+50C>T)
c.9654+50C>T (n.9654+50C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841051G=CA1158133598HSPG2c.9513+50C= (n.9513+50C=)
c.9516+50C= (n.9516+50C=)
c.10059+50C= (n.10059+50C=)
c.10011+50C= (n.10011+50C=)
c.9990+50C= (n.9990+50C=)
c.10062+50C= (n.10062+50C=)
c.9783+50C= (n.9783+50C=)
c.9567+50C= (n.9567+50C=)
c.9708+50C= (n.9708+50C=)
c.9657+50C= (n.9657+50C=)
c.9654+50C= (n.9654+50C=)
1g.21841051G>TCA2643961648HSPG2c.9513+50C>A (n.9513+50C>A)
c.9516+50C>A (n.9516+50C>A)
c.10059+50C>A (n.10059+50C>A)
c.10011+50C>A (n.10011+50C>A)
c.9990+50C>A (n.9990+50C>A)
c.10062+50C>A (n.10062+50C>A)
c.9783+50C>A (n.9783+50C>A)
c.9567+50C>A (n.9567+50C>A)
c.9708+50C>A (n.9708+50C>A)
c.9657+50C>A (n.9657+50C>A)
c.9654+50C>A (n.9654+50C>A)
 gnomAD v4
1g.21841052C>ACA2643961654HSPG2c.9513+49G>T (n.9513+49G>T)
c.9516+49G>T (n.9516+49G>T)
c.10059+49G>T (n.10059+49G>T)
c.10011+49G>T (n.10011+49G>T)
c.9990+49G>T (n.9990+49G>T)
c.10062+49G>T (n.10062+49G>T)
c.9783+49G>T (n.9783+49G>T)
c.9567+49G>T (n.9567+49G>T)
c.9708+49G>T (n.9708+49G>T)
c.9657+49G>T (n.9657+49G>T)
c.9654+49G>T (n.9654+49G>T)
 gnomAD v4
1g.21841052C=CA1158133599HSPG2c.9513+49G= (n.9513+49G=)
c.9516+49G= (n.9516+49G=)
c.10059+49G= (n.10059+49G=)
c.10011+49G= (n.10011+49G=)
c.9990+49G= (n.9990+49G=)
c.10062+49G= (n.10062+49G=)
c.9783+49G= (n.9783+49G=)
c.9567+49G= (n.9567+49G=)
c.9708+49G= (n.9708+49G=)
c.9657+49G= (n.9657+49G=)
c.9654+49G= (n.9654+49G=)
1g.21841052C>TCA670416HSPG2c.9513+49G>A (n.9513+49G>A)
c.9516+49G>A (n.9516+49G>A)
c.10059+49G>A (n.10059+49G>A)
c.10011+49G>A (n.10011+49G>A)
c.9990+49G>A (n.9990+49G>A)
c.10062+49G>A (n.10062+49G>A)
c.9783+49G>A (n.9783+49G>A)
c.9567+49G>A (n.9567+49G>A)
c.9708+49G>A (n.9708+49G>A)
c.9657+49G>A (n.9657+49G>A)
c.9654+49G>A (n.9654+49G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841054G>CCA2643961655HSPG2c.9513+47C>G (n.9513+47C>G)
c.9516+47C>G (n.9516+47C>G)
c.10059+47C>G (n.10059+47C>G)
c.10011+47C>G (n.10011+47C>G)
c.9990+47C>G (n.9990+47C>G)
c.10062+47C>G (n.10062+47C>G)
c.9783+47C>G (n.9783+47C>G)
c.9567+47C>G (n.9567+47C>G)
c.9708+47C>G (n.9708+47C>G)
c.9657+47C>G (n.9657+47C>G)
c.9654+47C>G (n.9654+47C>G)
 gnomAD v4
1g.21841054G>TCA2643961656HSPG2c.9513+47C>A (n.9513+47C>A)
c.9516+47C>A (n.9516+47C>A)
c.10059+47C>A (n.10059+47C>A)
c.10011+47C>A (n.10011+47C>A)
c.9990+47C>A (n.9990+47C>A)
c.10062+47C>A (n.10062+47C>A)
c.9783+47C>A (n.9783+47C>A)
c.9567+47C>A (n.9567+47C>A)
c.9708+47C>A (n.9708+47C>A)
c.9657+47C>A (n.9657+47C>A)
c.9654+47C>A (n.9654+47C>A)
 gnomAD v4
1g.21841056delCA2574452155HSPG2c.9513+47del (n.9513+47del)
c.9516+47del (n.9516+47del)
c.10059+47del (n.10059+47del)
c.10011+47del (n.10011+47del)
c.9990+47del (n.9990+47del)
c.10062+47del (n.10062+47del)
c.9783+47del (n.9783+47del)
c.9567+47del (n.9567+47del)
c.9708+47del (n.9708+47del)
c.9657+47del (n.9657+47del)
c.9654+47del (n.9654+47del)
1g.21841055G>ACA670417HSPG2c.9513+46C>T (n.9513+46C>T)
c.9516+46C>T (n.9516+46C>T)
c.10059+46C>T (n.10059+46C>T)
c.10011+46C>T (n.10011+46C>T)
c.9990+46C>T (n.9990+46C>T)
c.10062+46C>T (n.10062+46C>T)
c.9783+46C>T (n.9783+46C>T)
c.9567+46C>T (n.9567+46C>T)
c.9708+46C>T (n.9708+46C>T)
c.9657+46C>T (n.9657+46C>T)
c.9654+46C>T (n.9654+46C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841055G=CA1158133600HSPG2c.9513+46C= (n.9513+46C=)
c.9516+46C= (n.9516+46C=)
c.10059+46C= (n.10059+46C=)
c.10011+46C= (n.10011+46C=)
c.9990+46C= (n.9990+46C=)
c.10062+46C= (n.10062+46C=)
c.9783+46C= (n.9783+46C=)
c.9567+46C= (n.9567+46C=)
c.9708+46C= (n.9708+46C=)
c.9657+46C= (n.9657+46C=)
c.9654+46C= (n.9654+46C=)
1g.21841055G>TCA2643961660HSPG2c.9513+46C>A (n.9513+46C>A)
c.9516+46C>A (n.9516+46C>A)
c.10059+46C>A (n.10059+46C>A)
c.10011+46C>A (n.10011+46C>A)
c.9990+46C>A (n.9990+46C>A)
c.10062+46C>A (n.10062+46C>A)
c.9783+46C>A (n.9783+46C>A)
c.9567+46C>A (n.9567+46C>A)
c.9708+46C>A (n.9708+46C>A)
c.9657+46C>A (n.9657+46C>A)
c.9654+46C>A (n.9654+46C>A)
 gnomAD v4
1g.21841056G>TCA2574452156HSPG2c.9513+45C>A (n.9513+45C>A)
c.9516+45C>A (n.9516+45C>A)
c.10059+45C>A (n.10059+45C>A)
c.10011+45C>A (n.10011+45C>A)
c.9990+45C>A (n.9990+45C>A)
c.10062+45C>A (n.10062+45C>A)
c.9783+45C>A (n.9783+45C>A)
c.9567+45C>A (n.9567+45C>A)
c.9708+45C>A (n.9708+45C>A)
c.9657+45C>A (n.9657+45C>A)
c.9654+45C>A (n.9654+45C>A)
 gnomAD v4
1g.21841057C>TCA2643961662HSPG2c.9513+44G>A (n.9513+44G>A)
c.9516+44G>A (n.9516+44G>A)
c.10059+44G>A (n.10059+44G>A)
c.10011+44G>A (n.10011+44G>A)
c.9990+44G>A (n.9990+44G>A)
c.10062+44G>A (n.10062+44G>A)
c.9783+44G>A (n.9783+44G>A)
c.9567+44G>A (n.9567+44G>A)
c.9708+44G>A (n.9708+44G>A)
c.9657+44G>A (n.9657+44G>A)
c.9654+44G>A (n.9654+44G>A)
 gnomAD v4
1g.21841058C=CA1158133601HSPG2c.9513+43G= (n.9513+43G=)
c.9516+43G= (n.9516+43G=)
c.10059+43G= (n.10059+43G=)
c.10011+43G= (n.10011+43G=)
c.9990+43G= (n.9990+43G=)
c.10062+43G= (n.10062+43G=)
c.9783+43G= (n.9783+43G=)
c.9567+43G= (n.9567+43G=)
c.9708+43G= (n.9708+43G=)
c.9657+43G= (n.9657+43G=)
c.9654+43G= (n.9654+43G=)
1g.21841058C>TCA521900906HSPG2c.9513+43G>A (n.9513+43G>A)
c.9516+43G>A (n.9516+43G>A)
c.10059+43G>A (n.10059+43G>A)
c.10011+43G>A (n.10011+43G>A)
c.9990+43G>A (n.9990+43G>A)
c.10062+43G>A (n.10062+43G>A)
c.9783+43G>A (n.9783+43G>A)
c.9567+43G>A (n.9567+43G>A)
c.9708+43G>A (n.9708+43G>A)
c.9657+43G>A (n.9657+43G>A)
c.9654+43G>A (n.9654+43G>A)
 dbSNP gnomAD v2
1g.21841059A>GCA2643961664HSPG2c.9513+42T>C (n.9513+42T>C)
c.9516+42T>C (n.9516+42T>C)
c.10059+42T>C (n.10059+42T>C)
c.10011+42T>C (n.10011+42T>C)
c.9990+42T>C (n.9990+42T>C)
c.10062+42T>C (n.10062+42T>C)
c.9783+42T>C (n.9783+42T>C)
c.9567+42T>C (n.9567+42T>C)
c.9708+42T>C (n.9708+42T>C)
c.9657+42T>C (n.9657+42T>C)
c.9654+42T>C (n.9654+42T>C)
 gnomAD v4
1g.21841060T>ACA19106792HSPG2c.9513+41A>T (n.9513+41A>T)
c.9516+41A>T (n.9516+41A>T)
c.10059+41A>T (n.10059+41A>T)
c.10011+41A>T (n.10011+41A>T)
c.9990+41A>T (n.9990+41A>T)
c.10062+41A>T (n.10062+41A>T)
c.9783+41A>T (n.9783+41A>T)
c.9567+41A>T (n.9567+41A>T)
c.9708+41A>T (n.9708+41A>T)
c.9657+41A>T (n.9657+41A>T)
c.9654+41A>T (n.9654+41A>T)
 dbSNP
1g.21841060T>CCA2643961666HSPG2c.9513+41A>G (n.9513+41A>G)
c.9516+41A>G (n.9516+41A>G)
c.10059+41A>G (n.10059+41A>G)
c.10011+41A>G (n.10011+41A>G)
c.9990+41A>G (n.9990+41A>G)
c.10062+41A>G (n.10062+41A>G)
c.9783+41A>G (n.9783+41A>G)
c.9567+41A>G (n.9567+41A>G)
c.9708+41A>G (n.9708+41A>G)
c.9657+41A>G (n.9657+41A>G)
c.9654+41A>G (n.9654+41A>G)
 gnomAD v4
1g.21841060T>GCA731546046HSPG2c.9513+41A>C (n.9513+41A>C)
c.9516+41A>C (n.9516+41A>C)
c.10059+41A>C (n.10059+41A>C)
c.10011+41A>C (n.10011+41A>C)
c.9990+41A>C (n.9990+41A>C)
c.10062+41A>C (n.10062+41A>C)
c.9783+41A>C (n.9783+41A>C)
c.9567+41A>C (n.9567+41A>C)
c.9708+41A>C (n.9708+41A>C)
c.9657+41A>C (n.9657+41A>C)
c.9654+41A>C (n.9654+41A>C)
 dbSNP gnomAD v3 gnomAD v4
1g.21841060T=CA1158133602HSPG2c.9513+41A= (n.9513+41A=)
c.9516+41A= (n.9516+41A=)
c.10059+41A= (n.10059+41A=)
c.10011+41A= (n.10011+41A=)
c.9990+41A= (n.9990+41A=)
c.10062+41A= (n.10062+41A=)
c.9783+41A= (n.9783+41A=)
c.9567+41A= (n.9567+41A=)
c.9708+41A= (n.9708+41A=)
c.9657+41A= (n.9657+41A=)
c.9654+41A= (n.9654+41A=)
1g.21841061G>ACA2643961669HSPG2c.9513+40C>T (n.9513+40C>T)
c.9516+40C>T (n.9516+40C>T)
c.10059+40C>T (n.10059+40C>T)
c.10011+40C>T (n.10011+40C>T)
c.9990+40C>T (n.9990+40C>T)
c.10062+40C>T (n.10062+40C>T)
c.9783+40C>T (n.9783+40C>T)
c.9567+40C>T (n.9567+40C>T)
c.9708+40C>T (n.9708+40C>T)
c.9657+40C>T (n.9657+40C>T)
c.9654+40C>T (n.9654+40C>T)
 gnomAD v4
1g.21841062G>ACA670418HSPG2c.9513+39C>T (n.9513+39C>T)
c.9516+39C>T (n.9516+39C>T)
c.10059+39C>T (n.10059+39C>T)
c.10011+39C>T (n.10011+39C>T)
c.9990+39C>T (n.9990+39C>T)
c.10062+39C>T (n.10062+39C>T)
c.9783+39C>T (n.9783+39C>T)
c.9567+39C>T (n.9567+39C>T)
c.9708+39C>T (n.9708+39C>T)
c.9657+39C>T (n.9657+39C>T)
c.9654+39C>T (n.9654+39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841062G>CCA1158133604HSPG2c.9513+39C>G (n.9513+39C>G)
c.9516+39C>G (n.9516+39C>G)
c.10059+39C>G (n.10059+39C>G)
c.10011+39C>G (n.10011+39C>G)
c.9990+39C>G (n.9990+39C>G)
c.10062+39C>G (n.10062+39C>G)
c.9783+39C>G (n.9783+39C>G)
c.9567+39C>G (n.9567+39C>G)
c.9708+39C>G (n.9708+39C>G)
c.9657+39C>G (n.9657+39C>G)
c.9654+39C>G (n.9654+39C>G)
 dbSNP gnomAD v4
1g.21841062G=CA1158133603HSPG2c.9513+39C= (n.9513+39C=)
c.9516+39C= (n.9516+39C=)
c.10059+39C= (n.10059+39C=)
c.10011+39C= (n.10011+39C=)
c.9990+39C= (n.9990+39C=)
c.10062+39C= (n.10062+39C=)
c.9783+39C= (n.9783+39C=)
c.9567+39C= (n.9567+39C=)
c.9708+39C= (n.9708+39C=)
c.9657+39C= (n.9657+39C=)
c.9654+39C= (n.9654+39C=)
1g.21841062G>TCA1158133605HSPG2c.9513+39C>A (n.9513+39C>A)
c.9516+39C>A (n.9516+39C>A)
c.10059+39C>A (n.10059+39C>A)
c.10011+39C>A (n.10011+39C>A)
c.9990+39C>A (n.9990+39C>A)
c.10062+39C>A (n.10062+39C>A)
c.9783+39C>A (n.9783+39C>A)
c.9567+39C>A (n.9567+39C>A)
c.9708+39C>A (n.9708+39C>A)
c.9657+39C>A (n.9657+39C>A)
c.9654+39C>A (n.9654+39C>A)
 dbSNP gnomAD v4
1g.21841063A=CA1158133606HSPG2c.9513+38T= (n.9513+38T=)
c.9516+38T= (n.9516+38T=)
c.10059+38T= (n.10059+38T=)
c.10011+38T= (n.10011+38T=)
c.9990+38T= (n.9990+38T=)
c.10062+38T= (n.10062+38T=)
c.9783+38T= (n.9783+38T=)
c.9567+38T= (n.9567+38T=)
c.9708+38T= (n.9708+38T=)
c.9657+38T= (n.9657+38T=)
c.9654+38T= (n.9654+38T=)
1g.21841063A>CCA2742776508HSPG2c.9513+38T>G (n.9513+38T>G)
c.9516+38T>G (n.9516+38T>G)
c.10059+38T>G (n.10059+38T>G)
c.10011+38T>G (n.10011+38T>G)
c.9990+38T>G (n.9990+38T>G)
c.10062+38T>G (n.10062+38T>G)
c.9783+38T>G (n.9783+38T>G)
c.9567+38T>G (n.9567+38T>G)
c.9708+38T>G (n.9708+38T>G)
c.9657+38T>G (n.9657+38T>G)
c.9654+38T>G (n.9654+38T>G)
1g.21841063A>GCA670419HSPG2c.9513+38T>C (n.9513+38T>C)
c.9516+38T>C (n.9516+38T>C)
c.10059+38T>C (n.10059+38T>C)
c.10011+38T>C (n.10011+38T>C)
c.9990+38T>C (n.9990+38T>C)
c.10062+38T>C (n.10062+38T>C)
c.9783+38T>C (n.9783+38T>C)
c.9567+38T>C (n.9567+38T>C)
c.9708+38T>C (n.9708+38T>C)
c.9657+38T>C (n.9657+38T>C)
c.9654+38T>C (n.9654+38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841066G>ACA2643961679HSPG2c.9513+35C>T (n.9513+35C>T)
c.9516+35C>T (n.9516+35C>T)
c.10059+35C>T (n.10059+35C>T)
c.10011+35C>T (n.10011+35C>T)
c.9990+35C>T (n.9990+35C>T)
c.10062+35C>T (n.10062+35C>T)
c.9783+35C>T (n.9783+35C>T)
c.9567+35C>T (n.9567+35C>T)
c.9708+35C>T (n.9708+35C>T)
c.9657+35C>T (n.9657+35C>T)
c.9654+35C>T (n.9654+35C>T)
 gnomAD v4
1g.21841066G>CCA2643961680HSPG2c.9513+35C>G (n.9513+35C>G)
c.9516+35C>G (n.9516+35C>G)
c.10059+35C>G (n.10059+35C>G)
c.10011+35C>G (n.10011+35C>G)
c.9990+35C>G (n.9990+35C>G)
c.10062+35C>G (n.10062+35C>G)
c.9783+35C>G (n.9783+35C>G)
c.9567+35C>G (n.9567+35C>G)
c.9708+35C>G (n.9708+35C>G)
c.9657+35C>G (n.9657+35C>G)
c.9654+35C>G (n.9654+35C>G)
 gnomAD v4
1g.21841066G>TCA2643961681HSPG2c.9513+35C>A (n.9513+35C>A)
c.9516+35C>A (n.9516+35C>A)
c.10059+35C>A (n.10059+35C>A)
c.10011+35C>A (n.10011+35C>A)
c.9990+35C>A (n.9990+35C>A)
c.10062+35C>A (n.10062+35C>A)
c.9783+35C>A (n.9783+35C>A)
c.9567+35C>A (n.9567+35C>A)
c.9708+35C>A (n.9708+35C>A)
c.9657+35C>A (n.9657+35C>A)
c.9654+35C>A (n.9654+35C>A)
 gnomAD v4
1g.21841068delCA2643961677HSPG2c.9513+35del (n.9513+35del)
c.9516+35del (n.9516+35del)
c.10059+35del (n.10059+35del)
c.10011+35del (n.10011+35del)
c.9990+35del (n.9990+35del)
c.10062+35del (n.10062+35del)
c.9783+35del (n.9783+35del)
c.9567+35del (n.9567+35del)
c.9708+35del (n.9708+35del)
c.9657+35del (n.9657+35del)
c.9654+35del (n.9654+35del)
 gnomAD v4
1g.21841067G>CCA2643961683HSPG2c.9513+34C>G (n.9513+34C>G)
c.9516+34C>G (n.9516+34C>G)
c.10059+34C>G (n.10059+34C>G)
c.10011+34C>G (n.10011+34C>G)
c.9990+34C>G (n.9990+34C>G)
c.10062+34C>G (n.10062+34C>G)
c.9783+34C>G (n.9783+34C>G)
c.9567+34C>G (n.9567+34C>G)
c.9708+34C>G (n.9708+34C>G)
c.9657+34C>G (n.9657+34C>G)
c.9654+34C>G (n.9654+34C>G)
 gnomAD v4
1g.21841068G>ACA19106805HSPG2c.9513+33C>T (n.9513+33C>T)
c.9516+33C>T (n.9516+33C>T)
c.10059+33C>T (n.10059+33C>T)
c.10011+33C>T (n.10011+33C>T)
c.9990+33C>T (n.9990+33C>T)
c.10062+33C>T (n.10062+33C>T)
c.9783+33C>T (n.9783+33C>T)
c.9567+33C>T (n.9567+33C>T)
c.9708+33C>T (n.9708+33C>T)
c.9657+33C>T (n.9657+33C>T)
c.9654+33C>T (n.9654+33C>T)
 dbSNP
1g.21841068G=CA1158133607HSPG2c.9513+33C= (n.9513+33C=)
c.9516+33C= (n.9516+33C=)
c.10059+33C= (n.10059+33C=)
c.10011+33C= (n.10011+33C=)
c.9990+33C= (n.9990+33C=)
c.10062+33C= (n.10062+33C=)
c.9783+33C= (n.9783+33C=)
c.9567+33C= (n.9567+33C=)
c.9708+33C= (n.9708+33C=)
c.9657+33C= (n.9657+33C=)
c.9654+33C= (n.9654+33C=)
1g.21841068G>TCA2643961686HSPG2c.9513+33C>A (n.9513+33C>A)
c.9516+33C>A (n.9516+33C>A)
c.10059+33C>A (n.10059+33C>A)
c.10011+33C>A (n.10011+33C>A)
c.9990+33C>A (n.9990+33C>A)
c.10062+33C>A (n.10062+33C>A)
c.9783+33C>A (n.9783+33C>A)
c.9567+33C>A (n.9567+33C>A)
c.9708+33C>A (n.9708+33C>A)
c.9657+33C>A (n.9657+33C>A)
c.9654+33C>A (n.9654+33C>A)
 gnomAD v4
1g.21841069C=CA1158133609HSPG2c.9513+32G= (n.9513+32G=)
c.9516+32G= (n.9516+32G=)
c.10059+32G= (n.10059+32G=)
c.10011+32G= (n.10011+32G=)
c.9990+32G= (n.9990+32G=)
c.10062+32G= (n.10062+32G=)
c.9783+32G= (n.9783+32G=)
c.9567+32G= (n.9567+32G=)
c.9708+32G= (n.9708+32G=)
c.9657+32G= (n.9657+32G=)
c.9654+32G= (n.9654+32G=)
1g.21841069C>TCA1158133608HSPG2c.9513+32G>A (n.9513+32G>A)
c.9516+32G>A (n.9516+32G>A)
c.10059+32G>A (n.10059+32G>A)
c.10011+32G>A (n.10011+32G>A)
c.9990+32G>A (n.9990+32G>A)
c.10062+32G>A (n.10062+32G>A)
c.9783+32G>A (n.9783+32G>A)
c.9567+32G>A (n.9567+32G>A)
c.9708+32G>A (n.9708+32G>A)
c.9657+32G>A (n.9657+32G>A)
c.9654+32G>A (n.9654+32G>A)
 dbSNP
1g.21841070C=CA1158133610HSPG2c.9513+31G= (n.9513+31G=)
c.9516+31G= (n.9516+31G=)
c.10059+31G= (n.10059+31G=)
c.10011+31G= (n.10011+31G=)
c.9990+31G= (n.9990+31G=)
c.10062+31G= (n.10062+31G=)
c.9783+31G= (n.9783+31G=)
c.9567+31G= (n.9567+31G=)
c.9708+31G= (n.9708+31G=)
c.9657+31G= (n.9657+31G=)
c.9654+31G= (n.9654+31G=)
1g.21841070C>TCA999444429HSPG2c.9513+31G>A (n.9513+31G>A)
c.9516+31G>A (n.9516+31G>A)
c.10059+31G>A (n.10059+31G>A)
c.10011+31G>A (n.10011+31G>A)
c.9990+31G>A (n.9990+31G>A)
c.10062+31G>A (n.10062+31G>A)
c.9783+31G>A (n.9783+31G>A)
c.9567+31G>A (n.9567+31G>A)
c.9708+31G>A (n.9708+31G>A)
c.9657+31G>A (n.9657+31G>A)
c.9654+31G>A (n.9654+31G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.21841071T>GCA2643961688HSPG2c.9513+30A>C (n.9513+30A>C)
c.9516+30A>C (n.9516+30A>C)
c.10059+30A>C (n.10059+30A>C)
c.10011+30A>C (n.10011+30A>C)
c.9990+30A>C (n.9990+30A>C)
c.10062+30A>C (n.10062+30A>C)
c.9783+30A>C (n.9783+30A>C)
c.9567+30A>C (n.9567+30A>C)
c.9708+30A>C (n.9708+30A>C)
c.9657+30A>C (n.9657+30A>C)
c.9654+30A>C (n.9654+30A>C)
 gnomAD v4
1g.21841072C=CA1158133611HSPG2c.9513+29G= (n.9513+29G=)
c.9516+29G= (n.9516+29G=)
c.10059+29G= (n.10059+29G=)
c.10011+29G= (n.10011+29G=)
c.9990+29G= (n.9990+29G=)
c.10062+29G= (n.10062+29G=)
c.9783+29G= (n.9783+29G=)
c.9567+29G= (n.9567+29G=)
c.9708+29G= (n.9708+29G=)
c.9657+29G= (n.9657+29G=)
c.9654+29G= (n.9654+29G=)
1g.21841072C>GCA521900907HSPG2c.9513+29G>C (n.9513+29G>C)
c.9516+29G>C (n.9516+29G>C)
c.10059+29G>C (n.10059+29G>C)
c.10011+29G>C (n.10011+29G>C)
c.9990+29G>C (n.9990+29G>C)
c.10062+29G>C (n.10062+29G>C)
c.9783+29G>C (n.9783+29G>C)
c.9567+29G>C (n.9567+29G>C)
c.9708+29G>C (n.9708+29G>C)
c.9657+29G>C (n.9657+29G>C)
c.9654+29G>C (n.9654+29G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21841074G>TCA2643961690HSPG2c.9513+27C>A (n.9513+27C>A)
c.9516+27C>A (n.9516+27C>A)
c.10059+27C>A (n.10059+27C>A)
c.10011+27C>A (n.10011+27C>A)
c.9990+27C>A (n.9990+27C>A)
c.10062+27C>A (n.10062+27C>A)
c.9783+27C>A (n.9783+27C>A)
c.9567+27C>A (n.9567+27C>A)
c.9708+27C>A (n.9708+27C>A)
c.9657+27C>A (n.9657+27C>A)
c.9654+27C>A (n.9654+27C>A)
 gnomAD v4
1g.21841075A=CA1158133612HSPG2c.9513+26T= (n.9513+26T=)
c.9516+26T= (n.9516+26T=)
c.10059+26T= (n.10059+26T=)
c.10011+26T= (n.10011+26T=)
c.9990+26T= (n.9990+26T=)
c.10062+26T= (n.10062+26T=)
c.9783+26T= (n.9783+26T=)
c.9567+26T= (n.9567+26T=)
c.9708+26T= (n.9708+26T=)
c.9657+26T= (n.9657+26T=)
c.9654+26T= (n.9654+26T=)
1g.21841075A>CCA1158133613HSPG2c.9513+26T>G (n.9513+26T>G)
c.9516+26T>G (n.9516+26T>G)
c.10059+26T>G (n.10059+26T>G)
c.10011+26T>G (n.10011+26T>G)
c.9990+26T>G (n.9990+26T>G)
c.10062+26T>G (n.10062+26T>G)
c.9783+26T>G (n.9783+26T>G)
c.9567+26T>G (n.9567+26T>G)
c.9708+26T>G (n.9708+26T>G)
c.9657+26T>G (n.9657+26T>G)
c.9654+26T>G (n.9654+26T>G)
 dbSNP
1g.21841075A>GCA2574452157HSPG2c.9513+26T>C (n.9513+26T>C)
c.9516+26T>C (n.9516+26T>C)
c.10059+26T>C (n.10059+26T>C)
c.10011+26T>C (n.10011+26T>C)
c.9990+26T>C (n.9990+26T>C)
c.10062+26T>C (n.10062+26T>C)
c.9783+26T>C (n.9783+26T>C)
c.9567+26T>C (n.9567+26T>C)
c.9708+26T>C (n.9708+26T>C)
c.9657+26T>C (n.9657+26T>C)
c.9654+26T>C (n.9654+26T>C)
1g.21841077C=CA1158133614HSPG2c.9513+24G= (n.9513+24G=)
c.9516+24G= (n.9516+24G=)
c.10059+24G= (n.10059+24G=)
c.10011+24G= (n.10011+24G=)
c.9990+24G= (n.9990+24G=)
c.10062+24G= (n.10062+24G=)
c.9783+24G= (n.9783+24G=)
c.9567+24G= (n.9567+24G=)
c.9708+24G= (n.9708+24G=)
c.9657+24G= (n.9657+24G=)
c.9654+24G= (n.9654+24G=)
1g.21841077C>TCA19106818HSPG2c.9513+24G>A (n.9513+24G>A)
c.9516+24G>A (n.9516+24G>A)
c.10059+24G>A (n.10059+24G>A)
c.10011+24G>A (n.10011+24G>A)
c.9990+24G>A (n.9990+24G>A)
c.10062+24G>A (n.10062+24G>A)
c.9783+24G>A (n.9783+24G>A)
c.9567+24G>A (n.9567+24G>A)
c.9708+24G>A (n.9708+24G>A)
c.9657+24G>A (n.9657+24G>A)
c.9654+24G>A (n.9654+24G>A)
 dbSNP gnomAD v4
1g.21841078C>GCA2643961691HSPG2c.9513+23G>C (n.9513+23G>C)
c.9516+23G>C (n.9516+23G>C)
c.10059+23G>C (n.10059+23G>C)
c.10011+23G>C (n.10011+23G>C)
c.9990+23G>C (n.9990+23G>C)
c.10062+23G>C (n.10062+23G>C)
c.9783+23G>C (n.9783+23G>C)
c.9567+23G>C (n.9567+23G>C)
c.9708+23G>C (n.9708+23G>C)
c.9657+23G>C (n.9657+23G>C)
c.9654+23G>C (n.9654+23G>C)
 gnomAD v4
1g.21841078_21841079delinsCACA1158133615HSPG2c.9513+22_9513+23delinsTG (n.9513+22_9513+23delinsTG)
c.9516+22_9516+23delinsTG (n.9516+22_9516+23delinsTG)
c.10059+22_10059+23delinsTG (n.10059+22_10059+23delinsTG)
c.10011+22_10011+23delinsTG (n.10011+22_10011+23delinsTG)
c.9990+22_9990+23delinsTG (n.9990+22_9990+23delinsTG)
c.10062+22_10062+23delinsTG (n.10062+22_10062+23delinsTG)
c.9783+22_9783+23delinsTG (n.9783+22_9783+23delinsTG)
c.9567+22_9567+23delinsTG (n.9567+22_9567+23delinsTG)
c.9708+22_9708+23delinsTG (n.9708+22_9708+23delinsTG)
c.9657+22_9657+23delinsTG (n.9657+22_9657+23delinsTG)
c.9654+22_9654+23delinsTG (n.9654+22_9654+23delinsTG)
1g.21841079delCA999444434HSPG2c.9513+22del (n.9513+22del)
c.9516+22del (n.9516+22del)
c.10059+22del (n.10059+22del)
c.10011+22del (n.10011+22del)
c.9990+22del (n.9990+22del)
c.10062+22del (n.10062+22del)
c.9783+22del (n.9783+22del)
c.9567+22del (n.9567+22del)
c.9708+22del (n.9708+22del)
c.9657+22del (n.9657+22del)
c.9654+22del (n.9654+22del)
 dbSNP gnomAD v3 gnomAD v4
1g.21841083_21841084delCA2643961692HSPG2c.9513+21_9513+22del (n.9513+21_9513+22del)
c.9516+21_9516+22del (n.9516+21_9516+22del)
c.10059+21_10059+22del (n.10059+21_10059+22del)
c.10011+21_10011+22del (n.10011+21_10011+22del)
c.9990+21_9990+22del (n.9990+21_9990+22del)
c.10062+21_10062+22del (n.10062+21_10062+22del)
c.9783+21_9783+22del (n.9783+21_9783+22del)
c.9567+21_9567+22del (n.9567+21_9567+22del)
c.9708+21_9708+22del (n.9708+21_9708+22del)
c.9657+21_9657+22del (n.9657+21_9657+22del)
c.9654+21_9654+22del (n.9654+21_9654+22del)
 gnomAD v4
1g.21841080G>ACA521900908HSPG2c.9513+21C>T (n.9513+21C>T)
c.9516+21C>T (n.9516+21C>T)
c.10059+21C>T (n.10059+21C>T)
c.10011+21C>T (n.10011+21C>T)
c.9990+21C>T (n.9990+21C>T)
c.10062+21C>T (n.10062+21C>T)
c.9783+21C>T (n.9783+21C>T)
c.9567+21C>T (n.9567+21C>T)
c.9708+21C>T (n.9708+21C>T)
c.9657+21C>T (n.9657+21C>T)
c.9654+21C>T (n.9654+21C>T)
 dbSNP gnomAD v2
1g.21841080G=CA1158133616HSPG2c.9513+21C= (n.9513+21C=)
c.9516+21C= (n.9516+21C=)
c.10059+21C= (n.10059+21C=)
c.10011+21C= (n.10011+21C=)
c.9990+21C= (n.9990+21C=)
c.10062+21C= (n.10062+21C=)
c.9783+21C= (n.9783+21C=)
c.9567+21C= (n.9567+21C=)
c.9708+21C= (n.9708+21C=)
c.9657+21C= (n.9657+21C=)
c.9654+21C= (n.9654+21C=)
1g.21841082G>ACA731546054HSPG2c.9513+19C>T (n.9513+19C>T)
c.9516+19C>T (n.9516+19C>T)
c.10059+19C>T (n.10059+19C>T)
c.10011+19C>T (n.10011+19C>T)
c.9990+19C>T (n.9990+19C>T)
c.10062+19C>T (n.10062+19C>T)
c.9783+19C>T (n.9783+19C>T)
c.9567+19C>T (n.9567+19C>T)
c.9708+19C>T (n.9708+19C>T)
c.9657+19C>T (n.9657+19C>T)
c.9654+19C>T (n.9654+19C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.21841082G>CCA2643961693HSPG2c.9513+19C>G (n.9513+19C>G)
c.9516+19C>G (n.9516+19C>G)
c.10059+19C>G (n.10059+19C>G)
c.10011+19C>G (n.10011+19C>G)
c.9990+19C>G (n.9990+19C>G)
c.10062+19C>G (n.10062+19C>G)
c.9783+19C>G (n.9783+19C>G)
c.9567+19C>G (n.9567+19C>G)
c.9708+19C>G (n.9708+19C>G)
c.9657+19C>G (n.9657+19C>G)
c.9654+19C>G (n.9654+19C>G)
 gnomAD v4
1g.21841082G=CA1158133617HSPG2c.9513+19C= (n.9513+19C=)
c.9516+19C= (n.9516+19C=)
c.10059+19C= (n.10059+19C=)
c.10011+19C= (n.10011+19C=)
c.9990+19C= (n.9990+19C=)
c.10062+19C= (n.10062+19C=)
c.9783+19C= (n.9783+19C=)
c.9567+19C= (n.9567+19C=)
c.9708+19C= (n.9708+19C=)
c.9657+19C= (n.9657+19C=)
c.9654+19C= (n.9654+19C=)
1g.21841083A>GCA2643961694HSPG2c.9513+18T>C (n.9513+18T>C)
c.9516+18T>C (n.9516+18T>C)
c.10059+18T>C (n.10059+18T>C)
c.10011+18T>C (n.10011+18T>C)
c.9990+18T>C (n.9990+18T>C)
c.10062+18T>C (n.10062+18T>C)
c.9783+18T>C (n.9783+18T>C)
c.9567+18T>C (n.9567+18T>C)
c.9708+18T>C (n.9708+18T>C)
c.9657+18T>C (n.9657+18T>C)
c.9654+18T>C (n.9654+18T>C)
 gnomAD v4
1g.21841084G>ACA2643961695HSPG2c.9513+17C>T (n.9513+17C>T)
c.9516+17C>T (n.9516+17C>T)
c.10059+17C>T (n.10059+17C>T)
c.10011+17C>T (n.10011+17C>T)
c.9990+17C>T (n.9990+17C>T)
c.10062+17C>T (n.10062+17C>T)
c.9783+17C>T (n.9783+17C>T)
c.9567+17C>T (n.9567+17C>T)
c.9708+17C>T (n.9708+17C>T)
c.9657+17C>T (n.9657+17C>T)
c.9654+17C>T (n.9654+17C>T)
 gnomAD v4
1g.21841085G>ACA999444439HSPG2c.9513+16C>T (n.9513+16C>T)
c.9516+16C>T (n.9516+16C>T)
c.10059+16C>T (n.10059+16C>T)
c.10011+16C>T (n.10011+16C>T)
c.9990+16C>T (n.9990+16C>T)
c.10062+16C>T (n.10062+16C>T)
c.9783+16C>T (n.9783+16C>T)
c.9567+16C>T (n.9567+16C>T)
c.9708+16C>T (n.9708+16C>T)
c.9657+16C>T (n.9657+16C>T)
c.9654+16C>T (n.9654+16C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.21841085G>CCA1158133619HSPG2c.9513+16C>G (n.9513+16C>G)
c.9516+16C>G (n.9516+16C>G)
c.10059+16C>G (n.10059+16C>G)
c.10011+16C>G (n.10011+16C>G)
c.9990+16C>G (n.9990+16C>G)
c.10062+16C>G (n.10062+16C>G)
c.9783+16C>G (n.9783+16C>G)
c.9567+16C>G (n.9567+16C>G)
c.9708+16C>G (n.9708+16C>G)
c.9657+16C>G (n.9657+16C>G)
c.9654+16C>G (n.9654+16C>G)
 dbSNP
1g.21841085G=CA1158133618HSPG2c.9513+16C= (n.9513+16C=)
c.9516+16C= (n.9516+16C=)
c.10059+16C= (n.10059+16C=)
c.10011+16C= (n.10011+16C=)
c.9990+16C= (n.9990+16C=)
c.10062+16C= (n.10062+16C=)
c.9783+16C= (n.9783+16C=)
c.9567+16C= (n.9567+16C=)
c.9708+16C= (n.9708+16C=)
c.9657+16C= (n.9657+16C=)
c.9654+16C= (n.9654+16C=)
1g.21841086C>ACA2643961696HSPG2c.9513+15G>T (n.9513+15G>T)
c.9516+15G>T (n.9516+15G>T)
c.10059+15G>T (n.10059+15G>T)
c.10011+15G>T (n.10011+15G>T)
c.9990+15G>T (n.9990+15G>T)
c.10062+15G>T (n.10062+15G>T)
c.9783+15G>T (n.9783+15G>T)
c.9567+15G>T (n.9567+15G>T)
c.9708+15G>T (n.9708+15G>T)
c.9657+15G>T (n.9657+15G>T)
c.9654+15G>T (n.9654+15G>T)
 gnomAD v4
1g.21841088G>ACA670420HSPG2c.9513+13C>T (n.9513+13C>T)
c.9516+13C>T (n.9516+13C>T)
c.10059+13C>T (n.10059+13C>T)
c.10011+13C>T (n.10011+13C>T)
c.9990+13C>T (n.9990+13C>T)
c.10062+13C>T (n.10062+13C>T)
c.9783+13C>T (n.9783+13C>T)
c.9567+13C>T (n.9567+13C>T)
c.9708+13C>T (n.9708+13C>T)
c.9657+13C>T (n.9657+13C>T)
c.9654+13C>T (n.9654+13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841088G=CA1144145399HSPG2c.9513+13C= (n.9513+13C=)
c.9516+13C= (n.9516+13C=)
c.10059+13C= (n.10059+13C=)
c.10011+13C= (n.10011+13C=)
c.9990+13C= (n.9990+13C=)
c.10062+13C= (n.10062+13C=)
c.9783+13C= (n.9783+13C=)
c.9567+13C= (n.9567+13C=)
c.9708+13C= (n.9708+13C=)
c.9657+13C= (n.9657+13C=)
c.9654+13C= (n.9654+13C=)
1g.21841088G>TCA645685396HSPG2c.9513+13C>A (n.9513+13C>A)
c.9516+13C>A (n.9516+13C>A)
c.10059+13C>A (n.10059+13C>A)
c.10011+13C>A (n.10011+13C>A)
c.9990+13C>A (n.9990+13C>A)
c.10062+13C>A (n.10062+13C>A)
c.9783+13C>A (n.9783+13C>A)
c.9567+13C>A (n.9567+13C>A)
c.9708+13C>A (n.9708+13C>A)
c.9657+13C>A (n.9657+13C>A)
c.9654+13C>A (n.9654+13C>A)
 COSMIC
1g.21841088_21841089delinsGCCA1158133620HSPG2c.9513+12_9513+13delinsGC (n.9513+12_9513+13delinsGC)
c.9516+12_9516+13delinsGC (n.9516+12_9516+13delinsGC)
c.10059+12_10059+13delinsGC (n.10059+12_10059+13delinsGC)
c.10011+12_10011+13delinsGC (n.10011+12_10011+13delinsGC)
c.9990+12_9990+13delinsGC (n.9990+12_9990+13delinsGC)
c.10062+12_10062+13delinsGC (n.10062+12_10062+13delinsGC)
c.9783+12_9783+13delinsGC (n.9783+12_9783+13delinsGC)
c.9567+12_9567+13delinsGC (n.9567+12_9567+13delinsGC)
c.9708+12_9708+13delinsGC (n.9708+12_9708+13delinsGC)
c.9657+12_9657+13delinsGC (n.9657+12_9657+13delinsGC)
c.9654+12_9654+13delinsGC (n.9654+12_9654+13delinsGC)
1g.21841089C>ACA2643961697HSPG2c.9513+12G>T (n.9513+12G>T)
c.9516+12G>T (n.9516+12G>T)
c.10059+12G>T (n.10059+12G>T)
c.10011+12G>T (n.10011+12G>T)
c.9990+12G>T (n.9990+12G>T)
c.10062+12G>T (n.10062+12G>T)
c.9783+12G>T (n.9783+12G>T)
c.9567+12G>T (n.9567+12G>T)
c.9708+12G>T (n.9708+12G>T)
c.9657+12G>T (n.9657+12G>T)
c.9654+12G>T (n.9654+12G>T)
 gnomAD v4
1g.21841089C=CA1158133621HSPG2c.9513+12G= (n.9513+12G=)
c.9516+12G= (n.9516+12G=)
c.10059+12G= (n.10059+12G=)
c.10011+12G= (n.10011+12G=)
c.9990+12G= (n.9990+12G=)
c.10062+12G= (n.10062+12G=)
c.9783+12G= (n.9783+12G=)
c.9567+12G= (n.9567+12G=)
c.9708+12G= (n.9708+12G=)
c.9657+12G= (n.9657+12G=)
c.9654+12G= (n.9654+12G=)
1g.21841089C>GCA670422HSPG2c.9513+12G>C (n.9513+12G>C)
c.9516+12G>C (n.9516+12G>C)
c.10059+12G>C (n.10059+12G>C)
c.10011+12G>C (n.10011+12G>C)
c.9990+12G>C (n.9990+12G>C)
c.10062+12G>C (n.10062+12G>C)
c.9783+12G>C (n.9783+12G>C)
c.9567+12G>C (n.9567+12G>C)
c.9708+12G>C (n.9708+12G>C)
c.9657+12G>C (n.9657+12G>C)
c.9654+12G>C (n.9654+12G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841092delCA670421HSPG2c.9513+12del (n.9513+12del)
c.9516+12del (n.9516+12del)
c.10059+12del (n.10059+12del)
c.10011+12del (n.10011+12del)
c.9990+12del (n.9990+12del)
c.10062+12del (n.10062+12del)
c.9783+12del (n.9783+12del)
c.9567+12del (n.9567+12del)
c.9708+12del (n.9708+12del)
c.9657+12del (n.9657+12del)
c.9654+12del (n.9654+12del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841090C>ACA2643961699HSPG2c.9513+11G>T (n.9513+11G>T)
c.9516+11G>T (n.9516+11G>T)
c.10059+11G>T (n.10059+11G>T)
c.10011+11G>T (n.10011+11G>T)
c.9990+11G>T (n.9990+11G>T)
c.10062+11G>T (n.10062+11G>T)
c.9783+11G>T (n.9783+11G>T)
c.9567+11G>T (n.9567+11G>T)
c.9708+11G>T (n.9708+11G>T)
c.9657+11G>T (n.9657+11G>T)
c.9654+11G>T (n.9654+11G>T)
 gnomAD v4
1g.21841091C=CA1158133622HSPG2c.9513+10G= (n.9513+10G=)
c.9516+10G= (n.9516+10G=)
c.10059+10G= (n.10059+10G=)
c.10011+10G= (n.10011+10G=)
c.9990+10G= (n.9990+10G=)
c.10062+10G= (n.10062+10G=)
c.9783+10G= (n.9783+10G=)
c.9567+10G= (n.9567+10G=)
c.9708+10G= (n.9708+10G=)
c.9657+10G= (n.9657+10G=)
c.9654+10G= (n.9654+10G=)
1g.21841091C>TCA521900909HSPG2c.9513+10G>A (n.9513+10G>A)
c.9516+10G>A (n.9516+10G>A)
c.10059+10G>A (n.10059+10G>A)
c.10011+10G>A (n.10011+10G>A)
c.9990+10G>A (n.9990+10G>A)
c.10062+10G>A (n.10062+10G>A)
c.9783+10G>A (n.9783+10G>A)
c.9567+10G>A (n.9567+10G>A)
c.9708+10G>A (n.9708+10G>A)
c.9657+10G>A (n.9657+10G>A)
c.9654+10G>A (n.9654+10G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.21841092C>ACA1158133624HSPG2c.9513+9G>T (n.9513+9G>T)
c.9516+9G>T (n.9516+9G>T)
c.10059+9G>T (n.10059+9G>T)
c.10011+9G>T (n.10011+9G>T)
c.9990+9G>T (n.9990+9G>T)
c.10062+9G>T (n.10062+9G>T)
c.9783+9G>T (n.9783+9G>T)
c.9567+9G>T (n.9567+9G>T)
c.9708+9G>T (n.9708+9G>T)
c.9657+9G>T (n.9657+9G>T)
c.9654+9G>T (n.9654+9G>T)
 dbSNP
1g.21841092C=CA1158133623HSPG2c.9513+9G= (n.9513+9G=)
c.9516+9G= (n.9516+9G=)
c.10059+9G= (n.10059+9G=)
c.10011+9G= (n.10011+9G=)
c.9990+9G= (n.9990+9G=)
c.10062+9G= (n.10062+9G=)
c.9783+9G= (n.9783+9G=)
c.9567+9G= (n.9567+9G=)
c.9708+9G= (n.9708+9G=)
c.9657+9G= (n.9657+9G=)
c.9654+9G= (n.9654+9G=)
1g.21841092C>GCA2643961704HSPG2c.9513+9G>C (n.9513+9G>C)
c.9516+9G>C (n.9516+9G>C)
c.10059+9G>C (n.10059+9G>C)
c.10011+9G>C (n.10011+9G>C)
c.9990+9G>C (n.9990+9G>C)
c.10062+9G>C (n.10062+9G>C)
c.9783+9G>C (n.9783+9G>C)
c.9567+9G>C (n.9567+9G>C)
c.9708+9G>C (n.9708+9G>C)
c.9657+9G>C (n.9657+9G>C)
c.9654+9G>C (n.9654+9G>C)
 gnomAD v4
1g.21841092C>TCA670423HSPG2c.9513+9G>A (n.9513+9G>A)
c.9516+9G>A (n.9516+9G>A)
c.10059+9G>A (n.10059+9G>A)
c.10011+9G>A (n.10011+9G>A)
c.9990+9G>A (n.9990+9G>A)
c.10062+9G>A (n.10062+9G>A)
c.9783+9G>A (n.9783+9G>A)
c.9567+9G>A (n.9567+9G>A)
c.9708+9G>A (n.9708+9G>A)
c.9657+9G>A (n.9657+9G>A)
c.9654+9G>A (n.9654+9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841093G>ACA670424HSPG2c.9513+8C>T (n.9513+8C>T)
c.9516+8C>T (n.9516+8C>T)
c.10059+8C>T (n.10059+8C>T)
c.10011+8C>T (n.10011+8C>T)
c.9990+8C>T (n.9990+8C>T)
c.10062+8C>T (n.10062+8C>T)
c.9783+8C>T (n.9783+8C>T)
c.9567+8C>T (n.9567+8C>T)
c.9708+8C>T (n.9708+8C>T)
c.9657+8C>T (n.9657+8C>T)
c.9654+8C>T (n.9654+8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841093G=CA1148732365HSPG2c.9513+8C= (n.9513+8C=)
c.9516+8C= (n.9516+8C=)
c.10059+8C= (n.10059+8C=)
c.10011+8C= (n.10011+8C=)
c.9990+8C= (n.9990+8C=)
c.10062+8C= (n.10062+8C=)
c.9783+8C= (n.9783+8C=)
c.9567+8C= (n.9567+8C=)
c.9708+8C= (n.9708+8C=)
c.9657+8C= (n.9657+8C=)
c.9654+8C= (n.9654+8C=)
1g.21841095C>TCA2574452158HSPG2c.9513+6G>A (n.9513+6G>A)
c.9516+6G>A (n.9516+6G>A)
c.10059+6G>A (n.10059+6G>A)
c.10011+6G>A (n.10011+6G>A)
c.9990+6G>A (n.9990+6G>A)
c.10062+6G>A (n.10062+6G>A)
c.9783+6G>A (n.9783+6G>A)
c.9567+6G>A (n.9567+6G>A)
c.9708+6G>A (n.9708+6G>A)
c.9657+6G>A (n.9657+6G>A)
c.9654+6G>A (n.9654+6G>A)
 gnomAD v4
1g.21841099A>CCA338913957HSPG2c.9513+2T>G (n.9513+2T>G)
c.9516+2T>G (n.9516+2T>G)
c.10059+2T>G (n.10059+2T>G)
c.10011+2T>G (n.10011+2T>G)
c.9990+2T>G (n.9990+2T>G)
c.10062+2T>G (n.10062+2T>G)
c.9783+2T>G (n.9783+2T>G)
c.9567+2T>G (n.9567+2T>G)
c.9708+2T>G (n.9708+2T>G)
c.9657+2T>G (n.9657+2T>G)
c.9654+2T>G (n.9654+2T>G)
1g.21841099A>GCA338913958HSPG2c.9513+2T>C (n.9513+2T>C)
c.9516+2T>C (n.9516+2T>C)
c.10059+2T>C (n.10059+2T>C)
c.10011+2T>C (n.10011+2T>C)
c.9990+2T>C (n.9990+2T>C)
c.10062+2T>C (n.10062+2T>C)
c.9783+2T>C (n.9783+2T>C)
c.9567+2T>C (n.9567+2T>C)
c.9708+2T>C (n.9708+2T>C)
c.9657+2T>C (n.9657+2T>C)
c.9654+2T>C (n.9654+2T>C)
1g.21841099A>TCA338913959HSPG2c.9513+2T>A (n.9513+2T>A)
c.9516+2T>A (n.9516+2T>A)
c.10059+2T>A (n.10059+2T>A)
c.10011+2T>A (n.10011+2T>A)
c.9990+2T>A (n.9990+2T>A)
c.10062+2T>A (n.10062+2T>A)
c.9783+2T>A (n.9783+2T>A)
c.9567+2T>A (n.9567+2T>A)
c.9708+2T>A (n.9708+2T>A)
c.9657+2T>A (n.9657+2T>A)
c.9654+2T>A (n.9654+2T>A)
1g.21841100C>ACA338913961HSPG2c.9513+1G>T (n.9513+1G>T)
c.9516+1G>T (n.9516+1G>T)
c.10059+1G>T (n.10059+1G>T)
c.10011+1G>T (n.10011+1G>T)
c.9990+1G>T (n.9990+1G>T)
c.10062+1G>T (n.10062+1G>T)
c.9783+1G>T (n.9783+1G>T)
c.9567+1G>T (n.9567+1G>T)
c.9708+1G>T (n.9708+1G>T)
c.9657+1G>T (n.9657+1G>T)
c.9654+1G>T (n.9654+1G>T)
1g.21841100C>GCA338913962HSPG2c.9513+1G>C (n.9513+1G>C)
c.9516+1G>C (n.9516+1G>C)
c.10059+1G>C (n.10059+1G>C)
c.10011+1G>C (n.10011+1G>C)
c.9990+1G>C (n.9990+1G>C)
c.10062+1G>C (n.10062+1G>C)
c.9783+1G>C (n.9783+1G>C)
c.9567+1G>C (n.9567+1G>C)
c.9708+1G>C (n.9708+1G>C)
c.9657+1G>C (n.9657+1G>C)
c.9654+1G>C (n.9654+1G>C)
1g.21841100C>TCA338913960HSPG2c.9513+1G>A (n.9513+1G>A)
c.9516+1G>A (n.9516+1G>A)
c.10059+1G>A (n.10059+1G>A)
c.10011+1G>A (n.10011+1G>A)
c.9990+1G>A (n.9990+1G>A)
c.10062+1G>A (n.10062+1G>A)
c.9783+1G>A (n.9783+1G>A)
c.9567+1G>A (n.9567+1G>A)
c.9708+1G>A (n.9708+1G>A)
c.9657+1G>A (n.9657+1G>A)
c.9654+1G>A (n.9654+1G>A)
1g.21841101C>ACA338913963HSPG2c.9513G>T (p.Gln3171His)
c.9516G>T (p.Gln3172His)
c.10059G>T (p.Gln3353His)
c.10011G>T (p.Gln3337His)
c.9990G>T (p.Gln3330His)
c.10062G>T (p.Gln3354His)
c.9783G>T (p.Gln3261His)
c.9567G>T (p.Gln3189His)
c.9708G>T (p.Gln3236His)
c.9657G>T (p.Gln3219His)
c.9654G>T (p.Gln3218His)
1g.21841101C>GCA338913964HSPG2c.9513G>C (p.Gln3171His)
c.9516G>C (p.Gln3172His)
c.10059G>C (p.Gln3353His)
c.10011G>C (p.Gln3337His)
c.9990G>C (p.Gln3330His)
c.10062G>C (p.Gln3354His)
c.9783G>C (p.Gln3261His)
c.9567G>C (p.Gln3189His)
c.9708G>C (p.Gln3236His)
c.9657G>C (p.Gln3219His)
c.9654G>C (p.Gln3218His)
1g.21841101C>TCA416547291HSPG2c.9513G>A (p.Gln3171=)
c.9516G>A (p.Gln3172=)
c.10059G>A (p.Gln3353=)
c.10011G>A (p.Gln3337=)
c.9990G>A (p.Gln3330=)
c.10062G>A (p.Gln3354=)
c.9783G>A (p.Gln3261=)
c.9567G>A (p.Gln3189=)
c.9708G>A (p.Gln3236=)
c.9657G>A (p.Gln3219=)
c.9654G>A (p.Gln3218=)
1g.21841102T>ACA338913965HSPG2c.9512A>T (p.Gln3171Leu)
c.9515A>T (p.Gln3172Leu)
c.10058A>T (p.Gln3353Leu)
c.10010A>T (p.Gln3337Leu)
c.9989A>T (p.Gln3330Leu)
c.10061A>T (p.Gln3354Leu)
c.9782A>T (p.Gln3261Leu)
c.9566A>T (p.Gln3189Leu)
c.9707A>T (p.Gln3236Leu)
c.9656A>T (p.Gln3219Leu)
c.9653A>T (p.Gln3218Leu)
1g.21841102T>CCA338913966HSPG2c.9512A>G (p.Gln3171Arg)
c.9515A>G (p.Gln3172Arg)
c.10058A>G (p.Gln3353Arg)
c.10010A>G (p.Gln3337Arg)
c.9989A>G (p.Gln3330Arg)
c.10061A>G (p.Gln3354Arg)
c.9782A>G (p.Gln3261Arg)
c.9566A>G (p.Gln3189Arg)
c.9707A>G (p.Gln3236Arg)
c.9656A>G (p.Gln3219Arg)
c.9653A>G (p.Gln3218Arg)
1g.21841102T>GCA338913967HSPG2c.9512A>C (p.Gln3171Pro)
c.9515A>C (p.Gln3172Pro)
c.10058A>C (p.Gln3353Pro)
c.10010A>C (p.Gln3337Pro)
c.9989A>C (p.Gln3330Pro)
c.10061A>C (p.Gln3354Pro)
c.9782A>C (p.Gln3261Pro)
c.9566A>C (p.Gln3189Pro)
c.9707A>C (p.Gln3236Pro)
c.9656A>C (p.Gln3219Pro)
c.9653A>C (p.Gln3218Pro)
1g.21841103G>ACA338913968HSPG2c.9511C>T (p.Gln3171Ter)
c.9514C>T (p.Gln3172Ter)
c.10057C>T (p.Gln3353Ter)
c.10009C>T (p.Gln3337Ter)
c.9988C>T (p.Gln3330Ter)
c.10060C>T (p.Gln3354Ter)
c.9781C>T (p.Gln3261Ter)
c.9565C>T (p.Gln3189Ter)
c.9706C>T (p.Gln3236Ter)
c.9655C>T (p.Gln3219Ter)
c.9652C>T (p.Gln3218Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.21841103G>CCA670425HSPG2c.9511C>G (p.Gln3171Glu)
c.9514C>G (p.Gln3172Glu)
c.10057C>G (p.Gln3353Glu)
c.10009C>G (p.Gln3337Glu)
c.9988C>G (p.Gln3330Glu)
c.10060C>G (p.Gln3354Glu)
c.9781C>G (p.Gln3261Glu)
c.9565C>G (p.Gln3189Glu)
c.9706C>G (p.Gln3236Glu)
c.9655C>G (p.Gln3219Glu)
c.9652C>G (p.Gln3218Glu)
 dbSNP ExAC
1g.21841103G=CA1158133625HSPG2c.9511C= (p.Gln3171=)
c.9514C= (p.Gln3172=)
c.10057C= (p.Gln3353=)
c.10009C= (p.Gln3337=)
c.9988C= (p.Gln3330=)
c.10060C= (p.Gln3354=)
c.9781C= (p.Gln3261=)
c.9565C= (p.Gln3189=)
c.9706C= (p.Gln3236=)
c.9655C= (p.Gln3219=)
c.9652C= (p.Gln3218=)
1g.21841103G>TCA338913969HSPG2c.9511C>A (p.Gln3171Lys)
c.9514C>A (p.Gln3172Lys)
c.10057C>A (p.Gln3353Lys)
c.10009C>A (p.Gln3337Lys)
c.9988C>A (p.Gln3330Lys)
c.10060C>A (p.Gln3354Lys)
c.9781C>A (p.Gln3261Lys)
c.9565C>A (p.Gln3189Lys)
c.9706C>A (p.Gln3236Lys)
c.9655C>A (p.Gln3219Lys)
c.9652C>A (p.Gln3218Lys)
1g.21841104C>ACA416547293HSPG2c.9510G>T (p.Leu3170=)
c.9513G>T (p.Leu3171=)
c.10056G>T (p.Leu3352=)
c.10008G>T (p.Leu3336=)
c.9987G>T (p.Leu3329=)
c.10059G>T (p.Leu3353=)
c.9780G>T (p.Leu3260=)
c.9564G>T (p.Leu3188=)
c.9705G>T (p.Leu3235=)
c.9654G>T (p.Leu3218=)
c.9651G>T (p.Leu3217=)
 dbSNP gnomAD v2 gnomAD v4
1g.21841104C=CA1158133626HSPG2c.9510G= (p.Leu3170=)
c.9513G= (p.Leu3171=)
c.10056G= (p.Leu3352=)
c.10008G= (p.Leu3336=)
c.9987G= (p.Leu3329=)
c.10059G= (p.Leu3353=)
c.9780G= (p.Leu3260=)
c.9564G= (p.Leu3188=)
c.9705G= (p.Leu3235=)
c.9654G= (p.Leu3218=)
c.9651G= (p.Leu3217=)
1g.21841104C>GCA416547295HSPG2c.9510G>C (p.Leu3170=)
c.9513G>C (p.Leu3171=)
c.10056G>C (p.Leu3352=)
c.10008G>C (p.Leu3336=)
c.9987G>C (p.Leu3329=)
c.10059G>C (p.Leu3353=)
c.9780G>C (p.Leu3260=)
c.9564G>C (p.Leu3188=)
c.9705G>C (p.Leu3235=)
c.9654G>C (p.Leu3218=)
c.9651G>C (p.Leu3217=)
1g.21841104C>TCA416547292HSPG2c.9510G>A (p.Leu3170=)
c.9513G>A (p.Leu3171=)
c.10056G>A (p.Leu3352=)
c.10008G>A (p.Leu3336=)
c.9987G>A (p.Leu3329=)
c.10059G>A (p.Leu3353=)
c.9780G>A (p.Leu3260=)
c.9564G>A (p.Leu3188=)
c.9705G>A (p.Leu3235=)
c.9654G>A (p.Leu3218=)
c.9651G>A (p.Leu3217=)
 gnomAD v4
1g.21841105A>CCA338913970HSPG2c.9509T>G (p.Leu3170Arg)
c.9512T>G (p.Leu3171Arg)
c.10055T>G (p.Leu3352Arg)
c.10007T>G (p.Leu3336Arg)
c.9986T>G (p.Leu3329Arg)
c.10058T>G (p.Leu3353Arg)
c.9779T>G (p.Leu3260Arg)
c.9563T>G (p.Leu3188Arg)
c.9704T>G (p.Leu3235Arg)
c.9653T>G (p.Leu3218Arg)
c.9650T>G (p.Leu3217Arg)
1g.21841105A>GCA338913971HSPG2c.9509T>C (p.Leu3170Pro)
c.9512T>C (p.Leu3171Pro)
c.10055T>C (p.Leu3352Pro)
c.10007T>C (p.Leu3336Pro)
c.9986T>C (p.Leu3329Pro)
c.10058T>C (p.Leu3353Pro)
c.9779T>C (p.Leu3260Pro)
c.9563T>C (p.Leu3188Pro)
c.9704T>C (p.Leu3235Pro)
c.9653T>C (p.Leu3218Pro)
c.9650T>C (p.Leu3217Pro)
1g.21841105A>TCA338913972HSPG2c.9509T>A (p.Leu3170Gln)
c.9512T>A (p.Leu3171Gln)
c.10055T>A (p.Leu3352Gln)
c.10007T>A (p.Leu3336Gln)
c.9986T>A (p.Leu3329Gln)
c.10058T>A (p.Leu3353Gln)
c.9779T>A (p.Leu3260Gln)
c.9563T>A (p.Leu3188Gln)
c.9704T>A (p.Leu3235Gln)
c.9653T>A (p.Leu3218Gln)
c.9650T>A (p.Leu3217Gln)
 gnomAD v4
1g.21841106G>ACA416547296HSPG2c.9508C>T (p.Leu3170=)
c.9511C>T (p.Leu3171=)
c.10054C>T (p.Leu3352=)
c.10006C>T (p.Leu3336=)
c.9985C>T (p.Leu3329=)
c.10057C>T (p.Leu3353=)
c.9778C>T (p.Leu3260=)
c.9562C>T (p.Leu3188=)
c.9703C>T (p.Leu3235=)
c.9652C>T (p.Leu3218=)
c.9649C>T (p.Leu3217=)
1g.21841106G>CCA338913973HSPG2c.9508C>G (p.Leu3170Val)
c.9511C>G (p.Leu3171Val)
c.10054C>G (p.Leu3352Val)
c.10006C>G (p.Leu3336Val)
c.9985C>G (p.Leu3329Val)
c.10057C>G (p.Leu3353Val)
c.9778C>G (p.Leu3260Val)
c.9562C>G (p.Leu3188Val)
c.9703C>G (p.Leu3235Val)
c.9652C>G (p.Leu3218Val)
c.9649C>G (p.Leu3217Val)
1g.21841106G>TCA338913974HSPG2c.9508C>A (p.Leu3170Met)
c.9511C>A (p.Leu3171Met)
c.10054C>A (p.Leu3352Met)
c.10006C>A (p.Leu3336Met)
c.9985C>A (p.Leu3329Met)
c.10057C>A (p.Leu3353Met)
c.9778C>A (p.Leu3260Met)
c.9562C>A (p.Leu3188Met)
c.9703C>A (p.Leu3235Met)
c.9652C>A (p.Leu3218Met)
c.9649C>A (p.Leu3217Met)
1g.21841107C>ACA416547298HSPG2c.9507G>T (p.Val3169=)
c.9510G>T (p.Val3170=)
c.10053G>T (p.Val3351=)
c.10005G>T (p.Val3335=)
c.9984G>T (p.Val3328=)
c.10056G>T (p.Val3352=)
c.9777G>T (p.Val3259=)
c.9561G>T (p.Val3187=)
c.9702G>T (p.Val3234=)
c.9651G>T (p.Val3217=)
c.9648G>T (p.Val3216=)
1g.21841107C>GCA416547299HSPG2c.9507G>C (p.Val3169=)
c.9510G>C (p.Val3170=)
c.10053G>C (p.Val3351=)
c.10005G>C (p.Val3335=)
c.9984G>C (p.Val3328=)
c.10056G>C (p.Val3352=)
c.9777G>C (p.Val3259=)
c.9561G>C (p.Val3187=)
c.9702G>C (p.Val3234=)
c.9651G>C (p.Val3217=)
c.9648G>C (p.Val3216=)
1g.21841107C>TCA416547297HSPG2c.9507G>A (p.Val3169=)
c.9510G>A (p.Val3170=)
c.10053G>A (p.Val3351=)
c.10005G>A (p.Val3335=)
c.9984G>A (p.Val3328=)
c.10056G>A (p.Val3352=)
c.9777G>A (p.Val3259=)
c.9561G>A (p.Val3187=)
c.9702G>A (p.Val3234=)
c.9651G>A (p.Val3217=)
c.9648G>A (p.Val3216=)
1g.21841108A=CA1158133627HSPG2c.9506T= (p.Val3169=)
c.9509T= (p.Val3170=)
c.10052T= (p.Val3351=)
c.10004T= (p.Val3335=)
c.9983T= (p.Val3328=)
c.10055T= (p.Val3352=)
c.9776T= (p.Val3259=)
c.9560T= (p.Val3187=)
c.9701T= (p.Val3234=)
c.9650T= (p.Val3217=)
c.9647T= (p.Val3216=)
1g.21841108A>CCA338913977HSPG2c.9506T>G (p.Val3169Gly)
c.9509T>G (p.Val3170Gly)
c.10052T>G (p.Val3351Gly)
c.10004T>G (p.Val3335Gly)
c.9983T>G (p.Val3328Gly)
c.10055T>G (p.Val3352Gly)
c.9776T>G (p.Val3259Gly)
c.9560T>G (p.Val3187Gly)
c.9701T>G (p.Val3234Gly)
c.9650T>G (p.Val3217Gly)
c.9647T>G (p.Val3216Gly)
 dbSNP
1g.21841108A>GCA338913976HSPG2c.9506T>C (p.Val3169Ala)
c.9509T>C (p.Val3170Ala)
c.10052T>C (p.Val3351Ala)
c.10004T>C (p.Val3335Ala)
c.9983T>C (p.Val3328Ala)
c.10055T>C (p.Val3352Ala)
c.9776T>C (p.Val3259Ala)
c.9560T>C (p.Val3187Ala)
c.9701T>C (p.Val3234Ala)
c.9650T>C (p.Val3217Ala)
c.9647T>C (p.Val3216Ala)
1g.21841108A>TCA338913975HSPG2c.9506T>A (p.Val3169Glu)
c.9509T>A (p.Val3170Glu)
c.10052T>A (p.Val3351Glu)
c.10004T>A (p.Val3335Glu)
c.9983T>A (p.Val3328Glu)
c.10055T>A (p.Val3352Glu)
c.9776T>A (p.Val3259Glu)
c.9560T>A (p.Val3187Glu)
c.9701T>A (p.Val3234Glu)
c.9650T>A (p.Val3217Glu)
c.9647T>A (p.Val3216Glu)
1g.21841109C>ACA338913978HSPG2c.9505G>T (p.Val3169Leu)
c.9508G>T (p.Val3170Leu)
c.10051G>T (p.Val3351Leu)
c.10003G>T (p.Val3335Leu)
c.9982G>T (p.Val3328Leu)
c.10054G>T (p.Val3352Leu)
c.9775G>T (p.Val3259Leu)
c.9559G>T (p.Val3187Leu)
c.9700G>T (p.Val3234Leu)
c.9649G>T (p.Val3217Leu)
c.9646G>T (p.Val3216Leu)
1g.21841109C>GCA338913979HSPG2c.9505G>C (p.Val3169Leu)
c.9508G>C (p.Val3170Leu)
c.10051G>C (p.Val3351Leu)
c.10003G>C (p.Val3335Leu)
c.9982G>C (p.Val3328Leu)
c.10054G>C (p.Val3352Leu)
c.9775G>C (p.Val3259Leu)
c.9559G>C (p.Val3187Leu)
c.9700G>C (p.Val3234Leu)
c.9649G>C (p.Val3217Leu)
c.9646G>C (p.Val3216Leu)
1g.21841109C>TCA338913980HSPG2c.9505G>A (p.Val3169Met)
c.9508G>A (p.Val3170Met)
c.10051G>A (p.Val3351Met)
c.10003G>A (p.Val3335Met)
c.9982G>A (p.Val3328Met)
c.10054G>A (p.Val3352Met)
c.9775G>A (p.Val3259Met)
c.9559G>A (p.Val3187Met)
c.9700G>A (p.Val3234Met)
c.9649G>A (p.Val3217Met)
c.9646G>A (p.Val3216Met)
1g.21841110C>ACA416547301HSPG2c.9504G>T (p.Ala3168=)
c.9507G>T (p.Ala3169=)
c.10050G>T (p.Ala3350=)
c.10002G>T (p.Ala3334=)
c.9981G>T (p.Ala3327=)
c.10053G>T (p.Ala3351=)
c.9774G>T (p.Ala3258=)
c.9558G>T (p.Ala3186=)
c.9699G>T (p.Ala3233=)
c.9648G>T (p.Ala3216=)
c.9645G>T (p.Ala3215=)
1g.21841110C=CA1145165879HSPG2c.9504G= (p.Ala3168=)
c.9507G= (p.Ala3169=)
c.10050G= (p.Ala3350=)
c.10002G= (p.Ala3334=)
c.9981G= (p.Ala3327=)
c.10053G= (p.Ala3351=)
c.9774G= (p.Ala3258=)
c.9558G= (p.Ala3186=)
c.9699G= (p.Ala3233=)
c.9648G= (p.Ala3216=)
c.9645G= (p.Ala3215=)
1g.21841110C>GCA416547302HSPG2c.9504G>C (p.Ala3168=)
c.9507G>C (p.Ala3169=)
c.10050G>C (p.Ala3350=)
c.10002G>C (p.Ala3334=)
c.9981G>C (p.Ala3327=)
c.10053G>C (p.Ala3351=)
c.9774G>C (p.Ala3258=)
c.9558G>C (p.Ala3186=)
c.9699G>C (p.Ala3233=)
c.9648G>C (p.Ala3216=)
c.9645G>C (p.Ala3215=)
1g.21841110C>TCA670426HSPG2c.9504G>A (p.Ala3168=)
c.9507G>A (p.Ala3169=)
c.10050G>A (p.Ala3350=)
c.10002G>A (p.Ala3334=)
c.9981G>A (p.Ala3327=)
c.10053G>A (p.Ala3351=)
c.9774G>A (p.Ala3258=)
c.9558G>A (p.Ala3186=)
c.9699G>A (p.Ala3233=)
c.9648G>A (p.Ala3216=)
c.9645G>A (p.Ala3215=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841111G>ACA670428HSPG2c.9503C>T (p.Ala3168Val)
c.9506C>T (p.Ala3169Val)
c.10049C>T (p.Ala3350Val)
c.10001C>T (p.Ala3334Val)
c.9980C>T (p.Ala3327Val)
c.10052C>T (p.Ala3351Val)
c.9773C>T (p.Ala3258Val)
c.9557C>T (p.Ala3186Val)
c.9698C>T (p.Ala3233Val)
c.9647C>T (p.Ala3216Val)
c.9644C>T (p.Ala3215Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841111G>CCA670427HSPG2c.9503C>G (p.Ala3168Gly)
c.9506C>G (p.Ala3169Gly)
c.10049C>G (p.Ala3350Gly)
c.10001C>G (p.Ala3334Gly)
c.9980C>G (p.Ala3327Gly)
c.10052C>G (p.Ala3351Gly)
c.9773C>G (p.Ala3258Gly)
c.9557C>G (p.Ala3186Gly)
c.9698C>G (p.Ala3233Gly)
c.9647C>G (p.Ala3216Gly)
c.9644C>G (p.Ala3215Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841111G=CA1145073075HSPG2c.9503C= (p.Ala3168=)
c.9506C= (p.Ala3169=)
c.10049C= (p.Ala3350=)
c.10001C= (p.Ala3334=)
c.9980C= (p.Ala3327=)
c.10052C= (p.Ala3351=)
c.9773C= (p.Ala3258=)
c.9557C= (p.Ala3186=)
c.9698C= (p.Ala3233=)
c.9647C= (p.Ala3216=)
c.9644C= (p.Ala3215=)
1g.21841111G>TCA338913981HSPG2c.9503C>A (p.Ala3168Glu)
c.9506C>A (p.Ala3169Glu)
c.10049C>A (p.Ala3350Glu)
c.10001C>A (p.Ala3334Glu)
c.9980C>A (p.Ala3327Glu)
c.10052C>A (p.Ala3351Glu)
c.9773C>A (p.Ala3258Glu)
c.9557C>A (p.Ala3186Glu)
c.9698C>A (p.Ala3233Glu)
c.9647C>A (p.Ala3216Glu)
c.9644C>A (p.Ala3215Glu)
1g.21841112C>ACA338913982HSPG2c.9502G>T (p.Ala3168Ser)
c.9505G>T (p.Ala3169Ser)
c.10048G>T (p.Ala3350Ser)
c.10000G>T (p.Ala3334Ser)
c.9979G>T (p.Ala3327Ser)
c.10051G>T (p.Ala3351Ser)
c.9772G>T (p.Ala3258Ser)
c.9556G>T (p.Ala3186Ser)
c.9697G>T (p.Ala3233Ser)
c.9646G>T (p.Ala3216Ser)
c.9643G>T (p.Ala3215Ser)
1g.21841112C=CA1139921402HSPG2c.9502G= (p.Ala3168=)
c.9505G= (p.Ala3169=)
c.10048G= (p.Ala3350=)
c.10000G= (p.Ala3334=)
c.9979G= (p.Ala3327=)
c.10051G= (p.Ala3351=)
c.9772G= (p.Ala3258=)
c.9556G= (p.Ala3186=)
c.9697G= (p.Ala3233=)
c.9646G= (p.Ala3216=)
c.9643G= (p.Ala3215=)
1g.21841112C>GCA338913983HSPG2c.9502G>C (p.Ala3168Pro)
c.9505G>C (p.Ala3169Pro)
c.10048G>C (p.Ala3350Pro)
c.10000G>C (p.Ala3334Pro)
c.9979G>C (p.Ala3327Pro)
c.10051G>C (p.Ala3351Pro)
c.9772G>C (p.Ala3258Pro)
c.9556G>C (p.Ala3186Pro)
c.9697G>C (p.Ala3233Pro)
c.9646G>C (p.Ala3216Pro)
c.9643G>C (p.Ala3215Pro)
1g.21841112C>TCA670429HSPG2c.9502G>A (p.Ala3168Thr)
c.9505G>A (p.Ala3169Thr)
c.10048G>A (p.Ala3350Thr)
c.10000G>A (p.Ala3334Thr)
c.9979G>A (p.Ala3327Thr)
c.10051G>A (p.Ala3351Thr)
c.9772G>A (p.Ala3258Thr)
c.9556G>A (p.Ala3186Thr)
c.9697G>A (p.Ala3233Thr)
c.9646G>A (p.Ala3216Thr)
c.9643G>A (p.Ala3215Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841113G>ACA670430HSPG2c.9501C>T (p.His3167=)
c.9504C>T (p.His3168=)
c.10047C>T (p.His3349=)
c.9999C>T (p.His3333=)
c.9978C>T (p.His3326=)
c.10050C>T (p.His3350=)
c.9771C>T (p.His3257=)
c.9555C>T (p.His3185=)
c.9696C>T (p.His3232=)
c.9645C>T (p.His3215=)
c.9642C>T (p.His3214=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.21841113G>CCA338913984HSPG2c.9501C>G (p.His3167Gln)
c.9504C>G (p.His3168Gln)
c.10047C>G (p.His3349Gln)
c.9999C>G (p.His3333Gln)
c.9978C>G (p.His3326Gln)
c.10050C>G (p.His3350Gln)
c.9771C>G (p.His3257Gln)
c.9555C>G (p.His3185Gln)
c.9696C>G (p.His3232Gln)
c.9645C>G (p.His3215Gln)
c.9642C>G (p.His3214Gln)
1g.21841113G=CA1148406979HSPG2c.9501C= (p.His3167=)
c.9504C= (p.His3168=)
c.10047C= (p.His3349=)
c.9999C= (p.His3333=)
c.9978C= (p.His3326=)
c.10050C= (p.His3350=)
c.9771C= (p.His3257=)
c.9555C= (p.His3185=)
c.9696C= (p.His3232=)
c.9645C= (p.His3215=)
c.9642C= (p.His3214=)
1g.21841113G>TCA338913985HSPG2c.9501C>A (p.His3167Gln)
c.9504C>A (p.His3168Gln)
c.10047C>A (p.His3349Gln)
c.9999C>A (p.His3333Gln)
c.9978C>A (p.His3326Gln)
c.10050C>A (p.His3350Gln)
c.9771C>A (p.His3257Gln)
c.9555C>A (p.His3185Gln)
c.9696C>A (p.His3232Gln)
c.9645C>A (p.His3215Gln)
c.9642C>A (p.His3214Gln)
1g.21841114T>ACA338913987HSPG2c.9500A>T (p.His3167Leu)
c.9503A>T (p.His3168Leu)
c.10046A>T (p.His3349Leu)
c.9998A>T (p.His3333Leu)
c.9977A>T (p.His3326Leu)
c.10049A>T (p.His3350Leu)
c.9770A>T (p.His3257Leu)
c.9554A>T (p.His3185Leu)
c.9695A>T (p.His3232Leu)
c.9644A>T (p.His3215Leu)
c.9641A>T (p.His3214Leu)
1g.21841114T>CCA670431HSPG2c.9500A>G (p.His3167Arg)
c.9503A>G (p.His3168Arg)
c.10046A>G (p.His3349Arg)
c.9998A>G (p.His3333Arg)
c.9977A>G (p.His3326Arg)
c.10049A>G (p.His3350Arg)
c.9770A>G (p.His3257Arg)
c.9554A>G (p.His3185Arg)
c.9695A>G (p.His3232Arg)
c.9644A>G (p.His3215Arg)
c.9641A>G (p.His3214Arg)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.21841114T>GCA338913986HSPG2c.9500A>C (p.His3167Pro)
c.9503A>C (p.His3168Pro)
c.10046A>C (p.His3349Pro)
c.9998A>C (p.His3333Pro)
c.9977A>C (p.His3326Pro)
c.10049A>C (p.His3350Pro)
c.9770A>C (p.His3257Pro)
c.9554A>C (p.His3185Pro)
c.9695A>C (p.His3232Pro)
c.9644A>C (p.His3215Pro)
c.9641A>C (p.His3214Pro)
1g.21841114T=CA1144992222HSPG2c.9500A= (p.His3167=)
c.9503A= (p.His3168=)
c.10046A= (p.His3349=)
c.9998A= (p.His3333=)
c.9977A= (p.His3326=)
c.10049A= (p.His3350=)
c.9770A= (p.His3257=)
c.9554A= (p.His3185=)
c.9695A= (p.His3232=)
c.9644A= (p.His3215=)
c.9641A= (p.His3214=)
1g.21841115G>ACA338913990HSPG2c.9499C>T (p.His3167Tyr)
c.9502C>T (p.His3168Tyr)
c.10045C>T (p.His3349Tyr)
c.9997C>T (p.His3333Tyr)
c.9976C>T (p.His3326Tyr)
c.10048C>T (p.His3350Tyr)
c.9769C>T (p.His3257Tyr)
c.9553C>T (p.His3185Tyr)
c.9694C>T (p.His3232Tyr)
c.9643C>T (p.His3215Tyr)
c.9640C>T (p.His3214Tyr)
 ClinVar dbSNP gnomAD v4
1g.21841115G>CCA338913988HSPG2c.9499C>G (p.His3167Asp)
c.9502C>G (p.His3168Asp)
c.10045C>G (p.His3349Asp)
c.9997C>G (p.His3333Asp)
c.9976C>G (p.His3326Asp)
c.10048C>G (p.His3350Asp)
c.9769C>G (p.His3257Asp)
c.9553C>G (p.His3185Asp)
c.9694C>G (p.His3232Asp)
c.9643C>G (p.His3215Asp)
c.9640C>G (p.His3214Asp)
1g.21841115G>TCA338913989HSPG2c.9499C>A (p.His3167Asn)
c.9502C>A (p.His3168Asn)
c.10045C>A (p.His3349Asn)
c.9997C>A (p.His3333Asn)
c.9976C>A (p.His3326Asn)
c.10048C>A (p.His3350Asn)
c.9769C>A (p.His3257Asn)
c.9553C>A (p.His3185Asn)
c.9694C>A (p.His3232Asn)
c.9643C>A (p.His3215Asn)
c.9640C>A (p.His3214Asn)
 gnomAD v4
1g.21841116G>ACA416547308HSPG2c.9498C>T (p.Ser3166=)
c.9501C>T (p.Ser3167=)
c.10044C>T (p.Ser3348=)
c.9996C>T (p.Ser3332=)
c.9975C>T (p.Ser3325=)
c.10047C>T (p.Ser3349=)
c.9768C>T (p.Ser3256=)
c.9552C>T (p.Ser3184=)
c.9693C>T (p.Ser3231=)
c.9642C>T (p.Ser3214=)
c.9639C>T (p.Ser3213=)
1g.21841116G>CCA338913991HSPG2c.9498C>G (p.Ser3166Arg)
c.9501C>G (p.Ser3167Arg)
c.10044C>G (p.Ser3348Arg)
c.9996C>G (p.Ser3332Arg)
c.9975C>G (p.Ser3325Arg)
c.10047C>G (p.Ser3349Arg)
c.9768C>G (p.Ser3256Arg)
c.9552C>G (p.Ser3184Arg)
c.9693C>G (p.Ser3231Arg)
c.9642C>G (p.Ser3214Arg)
c.9639C>G (p.Ser3213Arg)
1g.21841116G=CA1158133628HSPG2c.9498C= (p.Ser3166=)
c.9501C= (p.Ser3167=)
c.10044C= (p.Ser3348=)
c.9996C= (p.Ser3332=)
c.9975C= (p.Ser3325=)
c.10047C= (p.Ser3349=)
c.9768C= (p.Ser3256=)
c.9552C= (p.Ser3184=)
c.9693C= (p.Ser3231=)
c.9642C= (p.Ser3214=)
c.9639C= (p.Ser3213=)
1g.21841116G>TCA338913992HSPG2c.9498C>A (p.Ser3166Arg)
c.9501C>A (p.Ser3167Arg)
c.10044C>A (p.Ser3348Arg)
c.9996C>A (p.Ser3332Arg)
c.9975C>A (p.Ser3325Arg)
c.10047C>A (p.Ser3349Arg)
c.9768C>A (p.Ser3256Arg)
c.9552C>A (p.Ser3184Arg)
c.9693C>A (p.Ser3231Arg)
c.9642C>A (p.Ser3214Arg)
c.9639C>A (p.Ser3213Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.21841117C>ACA338913993HSPG2c.9497G>T (p.Ser3166Ile)
c.9500G>T (p.Ser3167Ile)
c.10043G>T (p.Ser3348Ile)
c.9995G>T (p.Ser3332Ile)
c.9974G>T (p.Ser3325Ile)
c.10046G>T (p.Ser3349Ile)
c.9767G>T (p.Ser3256Ile)
c.9551G>T (p.Ser3184Ile)
c.9692G>T (p.Ser3231Ile)
c.9641G>T (p.Ser3214Ile)
c.9638G>T (p.Ser3213Ile)
1g.21841117C>GCA338913994HSPG2c.9497G>C (p.Ser3166Thr)
c.9500G>C (p.Ser3167Thr)
c.10043G>C (p.Ser3348Thr)
c.9995G>C (p.Ser3332Thr)
c.9974G>C (p.Ser3325Thr)
c.10046G>C (p.Ser3349Thr)
c.9767G>C (p.Ser3256Thr)
c.9551G>C (p.Ser3184Thr)
c.9692G>C (p.Ser3231Thr)
c.9641G>C (p.Ser3214Thr)
c.9638G>C (p.Ser3213Thr)
1g.21841117C>TCA338913995HSPG2c.9497G>A (p.Ser3166Asn)
c.9500G>A (p.Ser3167Asn)
c.10043G>A (p.Ser3348Asn)
c.9995G>A (p.Ser3332Asn)
c.9974G>A (p.Ser3325Asn)
c.10046G>A (p.Ser3349Asn)
c.9767G>A (p.Ser3256Asn)
c.9551G>A (p.Ser3184Asn)
c.9692G>A (p.Ser3231Asn)
c.9641G>A (p.Ser3214Asn)
c.9638G>A (p.Ser3213Asn)
1g.21841118T>ACA338913998HSPG2c.9496A>T (p.Ser3166Cys)
c.9499A>T (p.Ser3167Cys)
c.10042A>T (p.Ser3348Cys)
c.9994A>T (p.Ser3332Cys)
c.9973A>T (p.Ser3325Cys)
c.10045A>T (p.Ser3349Cys)
c.9766A>T (p.Ser3256Cys)
c.9550A>T (p.Ser3184Cys)
c.9691A>T (p.Ser3231Cys)
c.9640A>T (p.Ser3214Cys)
c.9637A>T (p.Ser3213Cys)
1g.21841118T>CCA338913996HSPG2c.9496A>G (p.Ser3166Gly)
c.9499A>G (p.Ser3167Gly)
c.10042A>G (p.Ser3348Gly)
c.9994A>G (p.Ser3332Gly)
c.9973A>G (p.Ser3325Gly)
c.10045A>G (p.Ser3349Gly)
c.9766A>G (p.Ser3256Gly)
c.9550A>G (p.Ser3184Gly)
c.9691A>G (p.Ser3231Gly)
c.9640A>G (p.Ser3214Gly)
c.9637A>G (p.Ser3213Gly)
 dbSNP gnomAD v4
1g.21841118T>GCA338913997HSPG2c.9496A>C (p.Ser3166Arg)
c.9499A>C (p.Ser3167Arg)
c.10042A>C (p.Ser3348Arg)
c.9994A>C (p.Ser3332Arg)
c.9973A>C (p.Ser3325Arg)
c.10045A>C (p.Ser3349Arg)
c.9766A>C (p.Ser3256Arg)
c.9550A>C (p.Ser3184Arg)
c.9691A>C (p.Ser3231Arg)
c.9640A>C (p.Ser3214Arg)
c.9637A>C (p.Ser3213Arg)
1g.21841118T=CA1158133629HSPG2c.9496A= (p.Ser3166=)
c.9499A= (p.Ser3167=)
c.10042A= (p.Ser3348=)
c.9994A= (p.Ser3332=)
c.9973A= (p.Ser3325=)
c.10045A= (p.Ser3349=)
c.9766A= (p.Ser3256=)
c.9550A= (p.Ser3184=)
c.9691A= (p.Ser3231=)
c.9640A= (p.Ser3214=)
c.9637A= (p.Ser3213=)
1g.21841119G>ACA416547311HSPG2c.9495C>T (p.Asp3165=)
c.9498C>T (p.Asp3166=)
c.10041C>T (p.Asp3347=)
c.9993C>T (p.Asp3331=)
c.9972C>T (p.Asp3324=)
c.10044C>T (p.Asp3348=)
c.9765C>T (p.Asp3255=)
c.9549C>T (p.Asp3183=)
c.9690C>T (p.Asp3230=)
c.9639C>T (p.Asp3213=)
c.9636C>T (p.Asp3212=)
 gnomAD v4
1g.21841119G>CCA338913999HSPG2c.9495C>G (p.Asp3165Glu)
c.9498C>G (p.Asp3166Glu)
c.10041C>G (p.Asp3347Glu)
c.9993C>G (p.Asp3331Glu)
c.9972C>G (p.Asp3324Glu)
c.10044C>G (p.Asp3348Glu)
c.9765C>G (p.Asp3255Glu)
c.9549C>G (p.Asp3183Glu)
c.9690C>G (p.Asp3230Glu)
c.9639C>G (p.Asp3213Glu)
c.9636C>G (p.Asp3212Glu)
1g.21841119G>TCA338914000HSPG2c.9495C>A (p.Asp3165Glu)
c.9498C>A (p.Asp3166Glu)
c.10041C>A (p.Asp3347Glu)
c.9993C>A (p.Asp3331Glu)
c.9972C>A (p.Asp3324Glu)
c.10044C>A (p.Asp3348Glu)
c.9765C>A (p.Asp3255Glu)
c.9549C>A (p.Asp3183Glu)
c.9690C>A (p.Asp3230Glu)
c.9639C>A (p.Asp3213Glu)
c.9636C>A (p.Asp3212Glu)
1g.21841120T>ACA338914001HSPG2c.9494A>T (p.Asp3165Val)
c.9497A>T (p.Asp3166Val)
c.10040A>T (p.Asp3347Val)
c.9992A>T (p.Asp3331Val)
c.9971A>T (p.Asp3324Val)
c.10043A>T (p.Asp3348Val)
c.9764A>T (p.Asp3255Val)
c.9548A>T (p.Asp3183Val)
c.9689A>T (p.Asp3230Val)
c.9638A>T (p.Asp3213Val)
c.9635A>T (p.Asp3212Val)
1g.21841120T>CCA338914002HSPG2c.9494A>G (p.Asp3165Gly)
c.9497A>G (p.Asp3166Gly)
c.10040A>G (p.Asp3347Gly)
c.9992A>G (p.Asp3331Gly)
c.9971A>G (p.Asp3324Gly)
c.10043A>G (p.Asp3348Gly)
c.9764A>G (p.Asp3255Gly)
c.9548A>G (p.Asp3183Gly)
c.9689A>G (p.Asp3230Gly)
c.9638A>G (p.Asp3213Gly)
c.9635A>G (p.Asp3212Gly)
1g.21841120T>GCA338914003HSPG2c.9494A>C (p.Asp3165Ala)
c.9497A>C (p.Asp3166Ala)
c.10040A>C (p.Asp3347Ala)
c.9992A>C (p.Asp3331Ala)
c.9971A>C (p.Asp3324Ala)
c.10043A>C (p.Asp3348Ala)
c.9764A>C (p.Asp3255Ala)
c.9548A>C (p.Asp3183Ala)
c.9689A>C (p.Asp3230Ala)
c.9638A>C (p.Asp3213Ala)
c.9635A>C (p.Asp3212Ala)
1g.21841121C>ACA338914004HSPG2c.9493G>T (p.Asp3165Tyr)
c.9496G>T (p.Asp3166Tyr)
c.10039G>T (p.Asp3347Tyr)
c.9991G>T (p.Asp3331Tyr)
c.9970G>T (p.Asp3324Tyr)
c.10042G>T (p.Asp3348Tyr)
c.9763G>T (p.Asp3255Tyr)
c.9547G>T (p.Asp3183Tyr)
c.9688G>T (p.Asp3230Tyr)
c.9637G>T (p.Asp3213Tyr)
c.9634G>T (p.Asp3212Tyr)
1g.21841121C=CA1158133630HSPG2c.9493G= (p.Asp3165=)
c.9496G= (p.Asp3166=)
c.10039G= (p.Asp3347=)
c.9991G= (p.Asp3331=)
c.9970G= (p.Asp3324=)
c.10042G= (p.Asp3348=)
c.9763G= (p.Asp3255=)
c.9547G= (p.Asp3183=)
c.9688G= (p.Asp3230=)
c.9637G= (p.Asp3213=)
c.9634G= (p.Asp3212=)
1g.21841121C>GCA338914006HSPG2c.9493G>C (p.Asp3165His)
c.9496G>C (p.Asp3166His)
c.10039G>C (p.Asp3347His)
c.9991G>C (p.Asp3331His)
c.9970G>C (p.Asp3324His)
c.10042G>C (p.Asp3348His)
c.9763G>C (p.Asp3255His)
c.9547G>C (p.Asp3183His)
c.9688G>C (p.Asp3230His)
c.9637G>C (p.Asp3213His)
c.9634G>C (p.Asp3212His)
1g.21841121C>TCA338914005HSPG2c.9493G>A (p.Asp3165Asn)
c.9496G>A (p.Asp3166Asn)
c.10039G>A (p.Asp3347Asn)
c.9991G>A (p.Asp3331Asn)
c.9970G>A (p.Asp3324Asn)
c.10042G>A (p.Asp3348Asn)
c.9763G>A (p.Asp3255Asn)
c.9547G>A (p.Asp3183Asn)
c.9688G>A (p.Asp3230Asn)
c.9637G>A (p.Asp3213Asn)
c.9634G>A (p.Asp3212Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.21841122C>ACA338914007HSPG2c.9492G>T (p.Met3164Ile)
c.9495G>T (p.Met3165Ile)
c.10038G>T (p.Met3346Ile)
c.9990G>T (p.Met3330Ile)
c.9969G>T (p.Met3323Ile)
c.10041G>T (p.Met3347Ile)
c.9762G>T (p.Met3254Ile)
c.9546G>T (p.Met3182Ile)
c.9687G>T (p.Met3229Ile)
c.9636G>T (p.Met3212Ile)
c.9633G>T (p.Met3211Ile)
1g.21841122C>GCA338914008HSPG2c.9492G>C (p.Met3164Ile)
c.9495G>C (p.Met3165Ile)
c.10038G>C (p.Met3346Ile)
c.9990G>C (p.Met3330Ile)
c.9969G>C (p.Met3323Ile)
c.10041G>C (p.Met3347Ile)
c.9762G>C (p.Met3254Ile)
c.9546G>C (p.Met3182Ile)
c.9687G>C (p.Met3229Ile)
c.9636G>C (p.Met3212Ile)
c.9633G>C (p.Met3211Ile)
1g.21841122C>TCA338914009HSPG2c.9492G>A (p.Met3164Ile)
c.9495G>A (p.Met3165Ile)
c.10038G>A (p.Met3346Ile)
c.9990G>A (p.Met3330Ile)
c.9969G>A (p.Met3323Ile)
c.10041G>A (p.Met3347Ile)
c.9762G>A (p.Met3254Ile)
c.9546G>A (p.Met3182Ile)
c.9687G>A (p.Met3229Ile)
c.9636G>A (p.Met3212Ile)
c.9633G>A (p.Met3211Ile)
 gnomAD v4
1g.21841123A=CA1158133631HSPG2c.9491T= (p.Met3164=)
c.9494T= (p.Met3165=)
c.10037T= (p.Met3346=)
c.9989T= (p.Met3330=)
c.9968T= (p.Met3323=)
c.10040T= (p.Met3347=)
c.9761T= (p.Met3254=)
c.9545T= (p.Met3182=)
c.9686T= (p.Met3229=)
c.9635T= (p.Met3212=)
c.9632T= (p.Met3211=)
1g.21841123A>CCA338914010HSPG2c.9491T>G (p.Met3164Arg)
c.9494T>G (p.Met3165Arg)
c.10037T>G (p.Met3346Arg)
c.9989T>G (p.Met3330Arg)
c.9968T>G (p.Met3323Arg)
c.10040T>G (p.Met3347Arg)
c.9761T>G (p.Met3254Arg)
c.9545T>G (p.Met3182Arg)
c.9686T>G (p.Met3229Arg)
c.9635T>G (p.Met3212Arg)
c.9632T>G (p.Met3211Arg)
1g.21841123A>GCA338914011HSPG2c.9491T>C (p.Met3164Thr)
c.9494T>C (p.Met3165Thr)
c.10037T>C (p.Met3346Thr)
c.9989T>C (p.Met3330Thr)
c.9968T>C (p.Met3323Thr)
c.10040T>C (p.Met3347Thr)
c.9761T>C (p.Met3254Thr)
c.9545T>C (p.Met3182Thr)
c.9686T>C (p.Met3229Thr)
c.9635T>C (p.Met3212Thr)
c.9632T>C (p.Met3211Thr)
1g.21841123A>TCA338914012HSPG2c.9491T>A (p.Met3164Lys)
c.9494T>A (p.Met3165Lys)
c.10037T>A (p.Met3346Lys)
c.9989T>A (p.Met3330Lys)
c.9968T>A (p.Met3323Lys)
c.10040T>A (p.Met3347Lys)
c.9761T>A (p.Met3254Lys)
c.9545T>A (p.Met3182Lys)
c.9686T>A (p.Met3229Lys)
c.9635T>A (p.Met3212Lys)
c.9632T>A (p.Met3211Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.21841124T>ACA338914013HSPG2c.9490A>T (p.Met3164Leu)
c.9493A>T (p.Met3165Leu)
c.10036A>T (p.Met3346Leu)
c.9988A>T (p.Met3330Leu)
c.9967A>T (p.Met3323Leu)
c.10039A>T (p.Met3347Leu)
c.9760A>T (p.Met3254Leu)
c.9544A>T (p.Met3182Leu)
c.9685A>T (p.Met3229Leu)
c.9634A>T (p.Met3212Leu)
c.9631A>T (p.Met3211Leu)
 gnomAD v4
1g.21841124T>CCA338914014HSPG2c.9490A>G (p.Met3164Val)
c.9493A>G (p.Met3165Val)
c.10036A>G (p.Met3346Val)
c.9988A>G (p.Met3330Val)
c.9967A>G (p.Met3323Val)
c.10039A>G (p.Met3347Val)
c.9760A>G (p.Met3254Val)
c.9544A>G (p.Met3182Val)
c.9685A>G (p.Met3229Val)
c.9634A>G (p.Met3212Val)
c.9631A>G (p.Met3211Val)
 dbSNP gnomAD v4
1g.21841124T>GCA338914015HSPG2c.9490A>C (p.Met3164Leu)
c.9493A>C (p.Met3165Leu)
c.10036A>C (p.Met3346Leu)
c.9988A>C (p.Met3330Leu)
c.9967A>C (p.Met3323Leu)
c.10039A>C (p.Met3347Leu)
c.9760A>C (p.Met3254Leu)
c.9544A>C (p.Met3182Leu)
c.9685A>C (p.Met3229Leu)
c.9634A>C (p.Met3212Leu)
c.9631A>C (p.Met3211Leu)
1g.21841124T=CA1158133632HSPG2c.9490A= (p.Met3164=)
c.9493A= (p.Met3165=)
c.10036A= (p.Met3346=)
c.9988A= (p.Met3330=)
c.9967A= (p.Met3323=)
c.10039A= (p.Met3347=)
c.9760A= (p.Met3254=)
c.9544A= (p.Met3182=)
c.9685A= (p.Met3229=)
c.9634A= (p.Met3212=)
c.9631A= (p.Met3211=)
1g.21841125G>ACA416547316HSPG2c.9489C>T (p.Leu3163=)
c.9492C>T (p.Leu3164=)
c.10035C>T (p.Leu3345=)
c.9987C>T (p.Leu3329=)
c.9966C>T (p.Leu3322=)
c.10038C>T (p.Leu3346=)
c.9759C>T (p.Leu3253=)
c.9543C>T (p.Leu3181=)
c.9684C>T (p.Leu3228=)
c.9633C>T (p.Leu3211=)
c.9630C>T (p.Leu3210=)
1g.21841125G>CCA416547318HSPG2c.9489C>G (p.Leu3163=)
c.9492C>G (p.Leu3164=)
c.10035C>G (p.Leu3345=)
c.9987C>G (p.Leu3329=)
c.9966C>G (p.Leu3322=)
c.10038C>G (p.Leu3346=)
c.9759C>G (p.Leu3253=)
c.9543C>G (p.Leu3181=)
c.9684C>G (p.Leu3228=)
c.9633C>G (p.Leu3211=)
c.9630C>G (p.Leu3210=)
 dbSNP
1g.21841125G>TCA416547317HSPG2c.9489C>A (p.Leu3163=)
c.9492C>A (p.Leu3164=)
c.10035C>A (p.Leu3345=)
c.9987C>A (p.Leu3329=)
c.9966C>A (p.Leu3322=)
c.10038C>A (p.Leu3346=)
c.9759C>A (p.Leu3253=)
c.9543C>A (p.Leu3181=)
c.9684C>A (p.Leu3228=)
c.9633C>A (p.Leu3211=)
c.9630C>A (p.Leu3210=)
1g.21841126A>CCA338914016HSPG2c.9488T>G (p.Leu3163Arg)
c.9491T>G (p.Leu3164Arg)
c.10034T>G (p.Leu3345Arg)
c.9986T>G (p.Leu3329Arg)
c.9965T>G (p.Leu3322Arg)
c.10037T>G (p.Leu3346Arg)
c.9758T>G (p.Leu3253Arg)
c.9542T>G (p.Leu3181Arg)
c.9683T>G (p.Leu3228Arg)
c.9632T>G (p.Leu3211Arg)
c.9629T>G (p.Leu3210Arg)
1g.21841126A>GCA338914017HSPG2c.9488T>C (p.Leu3163Pro)
c.9491T>C (p.Leu3164Pro)
c.10034T>C (p.Leu3345Pro)
c.9986T>C (p.Leu3329Pro)
c.9965T>C (p.Leu3322Pro)
c.10037T>C (p.Leu3346Pro)
c.9758T>C (p.Leu3253Pro)
c.9542T>C (p.Leu3181Pro)
c.9683T>C (p.Leu3228Pro)
c.9632T>C (p.Leu3211Pro)
c.9629T>C (p.Leu3210Pro)
1g.21841126A>TCA338914018HSPG2c.9488T>A (p.Leu3163His)
c.9491T>A (p.Leu3164His)
c.10034T>A (p.Leu3345His)
c.9986T>A (p.Leu3329His)
c.9965T>A (p.Leu3322His)
c.10037T>A (p.Leu3346His)
c.9758T>A (p.Leu3253His)
c.9542T>A (p.Leu3181His)
c.9683T>A (p.Leu3228His)
c.9632T>A (p.Leu3211His)
c.9629T>A (p.Leu3210His)
1g.21841127G>ACA670432HSPG2c.9487C>T (p.Leu3163Phe)
c.9490C>T (p.Leu3164Phe)
c.10033C>T (p.Leu3345Phe)
c.9985C>T (p.Leu3329Phe)
c.9964C>T (p.Leu3322Phe)
c.10036C>T (p.Leu3346Phe)
c.9757C>T (p.Leu3253Phe)
c.9541C>T (p.Leu3181Phe)
c.9682C>T (p.Leu3228Phe)
c.9631C>T (p.Leu3211Phe)
c.9628C>T (p.Leu3210Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841127G>CCA338914020HSPG2c.9487C>G (p.Leu3163Val)
c.9490C>G (p.Leu3164Val)
c.10033C>G (p.Leu3345Val)
c.9985C>G (p.Leu3329Val)
c.9964C>G (p.Leu3322Val)
c.10036C>G (p.Leu3346Val)
c.9757C>G (p.Leu3253Val)
c.9541C>G (p.Leu3181Val)
c.9682C>G (p.Leu3228Val)
c.9631C>G (p.Leu3211Val)
c.9628C>G (p.Leu3210Val)
1g.21841127G=CA1158133633HSPG2c.9487C= (p.Leu3163=)
c.9490C= (p.Leu3164=)
c.10033C= (p.Leu3345=)
c.9985C= (p.Leu3329=)
c.9964C= (p.Leu3322=)
c.10036C= (p.Leu3346=)
c.9757C= (p.Leu3253=)
c.9541C= (p.Leu3181=)
c.9682C= (p.Leu3228=)
c.9631C= (p.Leu3211=)
c.9628C= (p.Leu3210=)
1g.21841127G>TCA338914019HSPG2c.9487C>A (p.Leu3163Ile)
c.9490C>A (p.Leu3164Ile)
c.10033C>A (p.Leu3345Ile)
c.9985C>A (p.Leu3329Ile)
c.9964C>A (p.Leu3322Ile)
c.10036C>A (p.Leu3346Ile)
c.9757C>A (p.Leu3253Ile)
c.9541C>A (p.Leu3181Ile)
c.9682C>A (p.Leu3228Ile)
c.9631C>A (p.Leu3211Ile)
c.9628C>A (p.Leu3210Ile)
1g.21841128C>ACA416547319HSPG2c.9486G>T (p.Gly3162=)
c.9489G>T (p.Gly3163=)
c.10032G>T (p.Gly3344=)
c.9984G>T (p.Gly3328=)
c.9963G>T (p.Gly3321=)
c.10035G>T (p.Gly3345=)
c.9756G>T (p.Gly3252=)
c.9540G>T (p.Gly3180=)
c.9681G>T (p.Gly3227=)
c.9630G>T (p.Gly3210=)
c.9627G>T (p.Gly3209=)
 dbSNP
1g.21841128C=CA1158133634HSPG2c.9486G= (p.Gly3162=)
c.9489G= (p.Gly3163=)
c.10032G= (p.Gly3344=)
c.9984G= (p.Gly3328=)
c.9963G= (p.Gly3321=)
c.10035G= (p.Gly3345=)
c.9756G= (p.Gly3252=)
c.9540G= (p.Gly3180=)
c.9681G= (p.Gly3227=)
c.9630G= (p.Gly3210=)
c.9627G= (p.Gly3209=)
1g.21841128C>GCA416547321HSPG2c.9486G>C (p.Gly3162=)
c.9489G>C (p.Gly3163=)
c.10032G>C (p.Gly3344=)
c.9984G>C (p.Gly3328=)
c.9963G>C (p.Gly3321=)
c.10035G>C (p.Gly3345=)
c.9756G>C (p.Gly3252=)
c.9540G>C (p.Gly3180=)
c.9681G>C (p.Gly3227=)
c.9630G>C (p.Gly3210=)
c.9627G>C (p.Gly3209=)
1g.21841128C>TCA416547320HSPG2c.9486G>A (p.Gly3162=)
c.9489G>A (p.Gly3163=)
c.10032G>A (p.Gly3344=)
c.9984G>A (p.Gly3328=)
c.9963G>A (p.Gly3321=)
c.10035G>A (p.Gly3345=)
c.9756G>A (p.Gly3252=)
c.9540G>A (p.Gly3180=)
c.9681G>A (p.Gly3227=)
c.9630G>A (p.Gly3210=)
c.9627G>A (p.Gly3209=)
1g.21841129C>ACA338914021HSPG2c.9485G>T (p.Gly3162Val)
c.9488G>T (p.Gly3163Val)
c.10031G>T (p.Gly3344Val)
c.9983G>T (p.Gly3328Val)
c.9962G>T (p.Gly3321Val)
c.10034G>T (p.Gly3345Val)
c.9755G>T (p.Gly3252Val)
c.9539G>T (p.Gly3180Val)
c.9680G>T (p.Gly3227Val)
c.9629G>T (p.Gly3210Val)
c.9626G>T (p.Gly3209Val)
1g.21841129C>GCA338914022HSPG2c.9485G>C (p.Gly3162Ala)
c.9488G>C (p.Gly3163Ala)
c.10031G>C (p.Gly3344Ala)
c.9983G>C (p.Gly3328Ala)
c.9962G>C (p.Gly3321Ala)
c.10034G>C (p.Gly3345Ala)
c.9755G>C (p.Gly3252Ala)
c.9539G>C (p.Gly3180Ala)
c.9680G>C (p.Gly3227Ala)
c.9629G>C (p.Gly3210Ala)
c.9626G>C (p.Gly3209Ala)
1g.21841129C>TCA338914023HSPG2c.9485G>A (p.Gly3162Glu)
c.9488G>A (p.Gly3163Glu)
c.10031G>A (p.Gly3344Glu)
c.9983G>A (p.Gly3328Glu)
c.9962G>A (p.Gly3321Glu)
c.10034G>A (p.Gly3345Glu)
c.9755G>A (p.Gly3252Glu)
c.9539G>A (p.Gly3180Glu)
c.9680G>A (p.Gly3227Glu)
c.9629G>A (p.Gly3210Glu)
c.9626G>A (p.Gly3209Glu)
1g.21841130C>ACA338914024HSPG2c.9484G>T (p.Gly3162Trp)
c.9487G>T (p.Gly3163Trp)
c.10030G>T (p.Gly3344Trp)
c.9982G>T (p.Gly3328Trp)
c.9961G>T (p.Gly3321Trp)
c.10033G>T (p.Gly3345Trp)
c.9754G>T (p.Gly3252Trp)
c.9538G>T (p.Gly3180Trp)
c.9679G>T (p.Gly3227Trp)
c.9628G>T (p.Gly3210Trp)
c.9625G>T (p.Gly3209Trp)
1g.21841130C=CA1158133635HSPG2c.9484G= (p.Gly3162=)
c.9487G= (p.Gly3163=)
c.10030G= (p.Gly3344=)
c.9982G= (p.Gly3328=)
c.9961G= (p.Gly3321=)
c.10033G= (p.Gly3345=)
c.9754G= (p.Gly3252=)
c.9538G= (p.Gly3180=)
c.9679G= (p.Gly3227=)
c.9628G= (p.Gly3210=)
c.9625G= (p.Gly3209=)
1g.21841130C>GCA338914025HSPG2c.9484G>C (p.Gly3162Arg)
c.9487G>C (p.Gly3163Arg)
c.10030G>C (p.Gly3344Arg)
c.9982G>C (p.Gly3328Arg)
c.9961G>C (p.Gly3321Arg)
c.10033G>C (p.Gly3345Arg)
c.9754G>C (p.Gly3252Arg)
c.9538G>C (p.Gly3180Arg)
c.9679G>C (p.Gly3227Arg)
c.9628G>C (p.Gly3210Arg)
c.9625G>C (p.Gly3209Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.21841130C>TCA338914026HSPG2c.9484G>A (p.Gly3162Arg)
c.9487G>A (p.Gly3163Arg)
c.10030G>A (p.Gly3344Arg)
c.9982G>A (p.Gly3328Arg)
c.9961G>A (p.Gly3321Arg)
c.10033G>A (p.Gly3345Arg)
c.9754G>A (p.Gly3252Arg)
c.9538G>A (p.Gly3180Arg)
c.9679G>A (p.Gly3227Arg)
c.9628G>A (p.Gly3210Arg)
c.9625G>A (p.Gly3209Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.21841131A=CA1158133636HSPG2c.9483T= (p.Tyr3161=)
c.9486T= (p.Tyr3162=)
c.10029T= (p.Tyr3343=)
c.9981T= (p.Tyr3327=)
c.9960T= (p.Tyr3320=)
c.10032T= (p.Tyr3344=)
c.9753T= (p.Tyr3251=)
c.9537T= (p.Tyr3179=)
c.9678T= (p.Tyr3226=)
c.9627T= (p.Tyr3209=)
c.9624T= (p.Tyr3208=)
1g.21841131A>CCA338914028HSPG2c.9483T>G (p.Tyr3161Ter)
c.9486T>G (p.Tyr3162Ter)
c.10029T>G (p.Tyr3343Ter)
c.9981T>G (p.Tyr3327Ter)
c.9960T>G (p.Tyr3320Ter)
c.10032T>G (p.Tyr3344Ter)
c.9753T>G (p.Tyr3251Ter)
c.9537T>G (p.Tyr3179Ter)
c.9678T>G (p.Tyr3226Ter)
c.9627T>G (p.Tyr3209Ter)
c.9624T>G (p.Tyr3208Ter)
1g.21841131A>GCA416547325HSPG2c.9483T>C (p.Tyr3161=)
c.9486T>C (p.Tyr3162=)
c.10029T>C (p.Tyr3343=)
c.9981T>C (p.Tyr3327=)
c.9960T>C (p.Tyr3320=)
c.10032T>C (p.Tyr3344=)
c.9753T>C (p.Tyr3251=)
c.9537T>C (p.Tyr3179=)
c.9678T>C (p.Tyr3226=)
c.9627T>C (p.Tyr3209=)
c.9624T>C (p.Tyr3208=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21841131A>TCA338914027HSPG2c.9483T>A (p.Tyr3161Ter)
c.9486T>A (p.Tyr3162Ter)
c.10029T>A (p.Tyr3343Ter)
c.9981T>A (p.Tyr3327Ter)
c.9960T>A (p.Tyr3320Ter)
c.10032T>A (p.Tyr3344Ter)
c.9753T>A (p.Tyr3251Ter)
c.9537T>A (p.Tyr3179Ter)
c.9678T>A (p.Tyr3226Ter)
c.9627T>A (p.Tyr3209Ter)
c.9624T>A (p.Tyr3208Ter)
1g.21841132T>ACA338914029HSPG2c.9482A>T (p.Tyr3161Phe)
c.9485A>T (p.Tyr3162Phe)
c.10028A>T (p.Tyr3343Phe)
c.9980A>T (p.Tyr3327Phe)
c.9959A>T (p.Tyr3320Phe)
c.10031A>T (p.Tyr3344Phe)
c.9752A>T (p.Tyr3251Phe)
c.9536A>T (p.Tyr3179Phe)
c.9677A>T (p.Tyr3226Phe)
c.9626A>T (p.Tyr3209Phe)
c.9623A>T (p.Tyr3208Phe)
1g.21841132T>CCA338914030HSPG2c.9482A>G (p.Tyr3161Cys)
c.9485A>G (p.Tyr3162Cys)
c.10028A>G (p.Tyr3343Cys)
c.9980A>G (p.Tyr3327Cys)
c.9959A>G (p.Tyr3320Cys)
c.10031A>G (p.Tyr3344Cys)
c.9752A>G (p.Tyr3251Cys)
c.9536A>G (p.Tyr3179Cys)
c.9677A>G (p.Tyr3226Cys)
c.9626A>G (p.Tyr3209Cys)
c.9623A>G (p.Tyr3208Cys)
1g.21841132T>GCA338914031HSPG2c.9482A>C (p.Tyr3161Ser)
c.9485A>C (p.Tyr3162Ser)
c.10028A>C (p.Tyr3343Ser)
c.9980A>C (p.Tyr3327Ser)
c.9959A>C (p.Tyr3320Ser)
c.10031A>C (p.Tyr3344Ser)
c.9752A>C (p.Tyr3251Ser)
c.9536A>C (p.Tyr3179Ser)
c.9677A>C (p.Tyr3226Ser)
c.9626A>C (p.Tyr3209Ser)
c.9623A>C (p.Tyr3208Ser)
1g.21841133A>CCA338914032HSPG2c.9481T>G (p.Tyr3161Asp)
c.9484T>G (p.Tyr3162Asp)
c.10027T>G (p.Tyr3343Asp)
c.9979T>G (p.Tyr3327Asp)
c.9958T>G (p.Tyr3320Asp)
c.10030T>G (p.Tyr3344Asp)
c.9751T>G (p.Tyr3251Asp)
c.9535T>G (p.Tyr3179Asp)
c.9676T>G (p.Tyr3226Asp)
c.9625T>G (p.Tyr3209Asp)
c.9622T>G (p.Tyr3208Asp)
1g.21841133A>GCA338914033HSPG2c.9481T>C (p.Tyr3161His)
c.9484T>C (p.Tyr3162His)
c.10027T>C (p.Tyr3343His)
c.9979T>C (p.Tyr3327His)
c.9958T>C (p.Tyr3320His)
c.10030T>C (p.Tyr3344His)
c.9751T>C (p.Tyr3251His)
c.9535T>C (p.Tyr3179His)
c.9676T>C (p.Tyr3226His)
c.9625T>C (p.Tyr3209His)
c.9622T>C (p.Tyr3208His)
1g.21841133A>TCA338914034HSPG2c.9481T>A (p.Tyr3161Asn)
c.9484T>A (p.Tyr3162Asn)
c.10027T>A (p.Tyr3343Asn)
c.9979T>A (p.Tyr3327Asn)
c.9958T>A (p.Tyr3320Asn)
c.10030T>A (p.Tyr3344Asn)
c.9751T>A (p.Tyr3251Asn)
c.9535T>A (p.Tyr3179Asn)
c.9676T>A (p.Tyr3226Asn)
c.9625T>A (p.Tyr3209Asn)
c.9622T>A (p.Tyr3208Asn)
1g.21841134T>ACA416547330HSPG2c.9480A>T (p.Thr3160=)
c.9483A>T (p.Thr3161=)
c.10026A>T (p.Thr3342=)
c.9978A>T (p.Thr3326=)
c.9957A>T (p.Thr3319=)
c.10029A>T (p.Thr3343=)
c.9750A>T (p.Thr3250=)
c.9534A>T (p.Thr3178=)
c.9675A>T (p.Thr3225=)
c.9624A>T (p.Thr3208=)
c.9621A>T (p.Thr3207=)
 dbSNP
1g.21841134T>CCA416547329HSPG2c.9480A>G (p.Thr3160=)
c.9483A>G (p.Thr3161=)
c.10026A>G (p.Thr3342=)
c.9978A>G (p.Thr3326=)
c.9957A>G (p.Thr3319=)
c.10029A>G (p.Thr3343=)
c.9750A>G (p.Thr3250=)
c.9534A>G (p.Thr3178=)
c.9675A>G (p.Thr3225=)
c.9624A>G (p.Thr3208=)
c.9621A>G (p.Thr3207=)
 dbSNP gnomAD v2
1g.21841134T>GCA416547331HSPG2c.9480A>C (p.Thr3160=)
c.9483A>C (p.Thr3161=)
c.10026A>C (p.Thr3342=)
c.9978A>C (p.Thr3326=)
c.9957A>C (p.Thr3319=)
c.10029A>C (p.Thr3343=)
c.9750A>C (p.Thr3250=)
c.9534A>C (p.Thr3178=)
c.9675A>C (p.Thr3225=)
c.9624A>C (p.Thr3208=)
c.9621A>C (p.Thr3207=)
1g.21841134T=CA1158133637HSPG2c.9480A= (p.Thr3160=)
c.9483A= (p.Thr3161=)
c.10026A= (p.Thr3342=)
c.9978A= (p.Thr3326=)
c.9957A= (p.Thr3319=)
c.10029A= (p.Thr3343=)
c.9750A= (p.Thr3250=)
c.9534A= (p.Thr3178=)
c.9675A= (p.Thr3225=)
c.9624A= (p.Thr3208=)
c.9621A= (p.Thr3207=)
1g.21841135G>ACA338914035HSPG2c.9479C>T (p.Thr3160Ile)
c.9482C>T (p.Thr3161Ile)
c.10025C>T (p.Thr3342Ile)
c.9977C>T (p.Thr3326Ile)
c.9956C>T (p.Thr3319Ile)
c.10028C>T (p.Thr3343Ile)
c.9749C>T (p.Thr3250Ile)
c.9533C>T (p.Thr3178Ile)
c.9674C>T (p.Thr3225Ile)
c.9623C>T (p.Thr3208Ile)
c.9620C>T (p.Thr3207Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.21841135G>CCA670433HSPG2c.9479C>G (p.Thr3160Arg)
c.9482C>G (p.Thr3161Arg)
c.10025C>G (p.Thr3342Arg)
c.9977C>G (p.Thr3326Arg)
c.9956C>G (p.Thr3319Arg)
c.10028C>G (p.Thr3343Arg)
c.9749C>G (p.Thr3250Arg)
c.9533C>G (p.Thr3178Arg)
c.9674C>G (p.Thr3225Arg)
c.9623C>G (p.Thr3208Arg)
c.9620C>G (p.Thr3207Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841135G=CA1144138516HSPG2c.9479C= (p.Thr3160=)
c.9482C= (p.Thr3161=)
c.10025C= (p.Thr3342=)
c.9977C= (p.Thr3326=)
c.9956C= (p.Thr3319=)
c.10028C= (p.Thr3343=)
c.9749C= (p.Thr3250=)
c.9533C= (p.Thr3178=)
c.9674C= (p.Thr3225=)
c.9623C= (p.Thr3208=)
c.9620C= (p.Thr3207=)
1g.21841135G>TCA338914036HSPG2c.9479C>A (p.Thr3160Lys)
c.9482C>A (p.Thr3161Lys)
c.10025C>A (p.Thr3342Lys)
c.9977C>A (p.Thr3326Lys)
c.9956C>A (p.Thr3319Lys)
c.10028C>A (p.Thr3343Lys)
c.9749C>A (p.Thr3250Lys)
c.9533C>A (p.Thr3178Lys)
c.9674C>A (p.Thr3225Lys)
c.9623C>A (p.Thr3208Lys)
c.9620C>A (p.Thr3207Lys)
1g.21841136T>ACA338914037HSPG2c.9478A>T (p.Thr3160Ser)
c.9481A>T (p.Thr3161Ser)
c.10024A>T (p.Thr3342Ser)
c.9976A>T (p.Thr3326Ser)
c.9955A>T (p.Thr3319Ser)
c.10027A>T (p.Thr3343Ser)
c.9748A>T (p.Thr3250Ser)
c.9532A>T (p.Thr3178Ser)
c.9673A>T (p.Thr3225Ser)
c.9622A>T (p.Thr3208Ser)
c.9619A>T (p.Thr3207Ser)
1g.21841136T>CCA670434HSPG2c.9478A>G (p.Thr3160Ala)
c.9481A>G (p.Thr3161Ala)
c.10024A>G (p.Thr3342Ala)
c.9976A>G (p.Thr3326Ala)
c.9955A>G (p.Thr3319Ala)
c.10027A>G (p.Thr3343Ala)
c.9748A>G (p.Thr3250Ala)
c.9532A>G (p.Thr3178Ala)
c.9673A>G (p.Thr3225Ala)
c.9622A>G (p.Thr3208Ala)
c.9619A>G (p.Thr3207Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21841136T>GCA338914038HSPG2c.9478A>C (p.Thr3160Pro)
c.9481A>C (p.Thr3161Pro)
c.10024A>C (p.Thr3342Pro)
c.9976A>C (p.Thr3326Pro)
c.9955A>C (p.Thr3319Pro)
c.10027A>C (p.Thr3343Pro)
c.9748A>C (p.Thr3250Pro)
c.9532A>C (p.Thr3178Pro)
c.9673A>C (p.Thr3225Pro)
c.9622A>C (p.Thr3208Pro)
c.9619A>C (p.Thr3207Pro)
1g.21841136T=CA1158133638HSPG2c.9478A= (p.Thr3160=)
c.9481A= (p.Thr3161=)
c.10024A= (p.Thr3342=)
c.9976A= (p.Thr3326=)
c.9955A= (p.Thr3319=)
c.10027A= (p.Thr3343=)
c.9748A= (p.Thr3250=)
c.9532A= (p.Thr3178=)
c.9673A= (p.Thr3225=)
c.9622A= (p.Thr3208=)
c.9619A= (p.Thr3207=)
1g.21841137C>ACA416547335HSPG2c.9477G>T (p.Arg3159=)
c.9480G>T (p.Arg3160=)
c.10023G>T (p.Arg3341=)
c.9975G>T (p.Arg3325=)
c.9954G>T (p.Arg3318=)
c.10026G>T (p.Arg3342=)
c.9747G>T (p.Arg3249=)
c.9531G>T (p.Arg3177=)
c.9672G>T (p.Arg3224=)
c.9621G>T (p.Arg3207=)
c.9618G>T (p.Arg3206=)
1g.21841137C=CA1158133639HSPG2c.9477G= (p.Arg3159=)
c.9480G= (p.Arg3160=)
c.10023G= (p.Arg3341=)
c.9975G= (p.Arg3325=)
c.9954G= (p.Arg3318=)
c.10026G= (p.Arg3342=)
c.9747G= (p.Arg3249=)
c.9531G= (p.Arg3177=)
c.9672G= (p.Arg3224=)
c.9621G= (p.Arg3207=)
c.9618G= (p.Arg3206=)
1g.21841137C>GCA416547336HSPG2c.9477G>C (p.Arg3159=)
c.9480G>C (p.Arg3160=)
c.10023G>C (p.Arg3341=)
c.9975G>C (p.Arg3325=)
c.9954G>C (p.Arg3318=)
c.10026G>C (p.Arg3342=)
c.9747G>C (p.Arg3249=)
c.9531G>C (p.Arg3177=)
c.9672G>C (p.Arg3224=)
c.9621G>C (p.Arg3207=)
c.9618G>C (p.Arg3206=)
1g.21841137C>TCA416547337HSPG2c.9477G>A (p.Arg3159=)
c.9480G>A (p.Arg3160=)
c.10023G>A (p.Arg3341=)
c.9975G>A (p.Arg3325=)
c.9954G>A (p.Arg3318=)
c.10026G>A (p.Arg3342=)
c.9747G>A (p.Arg3249=)
c.9531G>A (p.Arg3177=)
c.9672G>A (p.Arg3224=)
c.9621G>A (p.Arg3207=)
c.9618G>A (p.Arg3206=)
 dbSNP gnomAD v2
1g.21841138C>ACA338914039HSPG2c.9476G>T (p.Arg3159Leu)
c.9479G>T (p.Arg3160Leu)
c.10022G>T (p.Arg3341Leu)
c.9974G>T (p.Arg3325Leu)
c.9953G>T (p.Arg3318Leu)
c.10025G>T (p.Arg3342Leu)
c.9746G>T (p.Arg3249Leu)
c.9530G>T (p.Arg3177Leu)
c.9671G>T (p.Arg3224Leu)
c.9620G>T (p.Arg3207Leu)
c.9617G>T (p.Arg3206Leu)
1g.21841138C=CA1141751328HSPG2c.9476G= (p.Arg3159=)
c.9479G= (p.Arg3160=)
c.10022G= (p.Arg3341=)
c.9974G= (p.Arg3325=)
c.9953G= (p.Arg3318=)
c.10025G= (p.Arg3342=)
c.9746G= (p.Arg3249=)
c.9530G= (p.Arg3177=)
c.9671G= (p.Arg3224=)
c.9620G= (p.Arg3207=)
c.9617G= (p.Arg3206=)
1g.21841138C>GCA338914040HSPG2c.9476G>C (p.Arg3159Pro)
c.9479G>C (p.Arg3160Pro)
c.10022G>C (p.Arg3341Pro)
c.9974G>C (p.Arg3325Pro)
c.9953G>C (p.Arg3318Pro)
c.10025G>C (p.Arg3342Pro)
c.9746G>C (p.Arg3249Pro)
c.9530G>C (p.Arg3177Pro)
c.9671G>C (p.Arg3224Pro)
c.9620G>C (p.Arg3207Pro)
c.9617G>C (p.Arg3206Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.21841138C>TCA670435HSPG2c.9476G>A (p.Arg3159Gln)
c.9479G>A (p.Arg3160Gln)
c.10022G>A (p.Arg3341Gln)
c.9974G>A (p.Arg3325Gln)
c.9953G>A (p.Arg3318Gln)
c.10025G>A (p.Arg3342Gln)
c.9746G>A (p.Arg3249Gln)
c.9530G>A (p.Arg3177Gln)
c.9671G>A (p.Arg3224Gln)
c.9620G>A (p.Arg3207Gln)
c.9617G>A (p.Arg3206Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841139G>ACA670436HSPG2c.9475C>T (p.Arg3159Trp)
c.9478C>T (p.Arg3160Trp)
c.10021C>T (p.Arg3341Trp)
c.9973C>T (p.Arg3325Trp)
c.9952C>T (p.Arg3318Trp)
c.10024C>T (p.Arg3342Trp)
c.9745C>T (p.Arg3249Trp)
c.9529C>T (p.Arg3177Trp)
c.9670C>T (p.Arg3224Trp)
c.9619C>T (p.Arg3207Trp)
c.9616C>T (p.Arg3206Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21841139G>CCA338914041HSPG2c.9475C>G (p.Arg3159Gly)
c.9478C>G (p.Arg3160Gly)
c.10021C>G (p.Arg3341Gly)
c.9973C>G (p.Arg3325Gly)
c.9952C>G (p.Arg3318Gly)
c.10024C>G (p.Arg3342Gly)
c.9745C>G (p.Arg3249Gly)
c.9529C>G (p.Arg3177Gly)
c.9670C>G (p.Arg3224Gly)
c.9619C>G (p.Arg3207Gly)
c.9616C>G (p.Arg3206Gly)
1g.21841139G=CA1158133640HSPG2c.9475C= (p.Arg3159=)
c.9478C= (p.Arg3160=)
c.10021C= (p.Arg3341=)
c.9973C= (p.Arg3325=)
c.9952C= (p.Arg3318=)
c.10024C= (p.Arg3342=)
c.9745C= (p.Arg3249=)
c.9529C= (p.Arg3177=)
c.9670C= (p.Arg3224=)
c.9619C= (p.Arg3207=)
c.9616C= (p.Arg3206=)
1g.21841139G>TCA416547338HSPG2c.9475C>A (p.Arg3159=)
c.9478C>A (p.Arg3160=)
c.10021C>A (p.Arg3341=)
c.9973C>A (p.Arg3325=)
c.9952C>A (p.Arg3318=)
c.10024C>A (p.Arg3342=)
c.9745C>A (p.Arg3249=)
c.9529C>A (p.Arg3177=)
c.9670C>A (p.Arg3224=)
c.9619C>A (p.Arg3207=)
c.9616C>A (p.Arg3206=)
1g.21841142_21841144dupCA2643961770HSPG2c.9473_9475dup (p.Gln3158_Arg3159insGln)
c.9476_9478dup (p.Gln3159_Arg3160insGln)
c.10019_10021dup (p.Gln3340_Arg3341insGln)
c.9971_9973dup (p.Gln3324_Arg3325insGln)
c.9950_9952dup (p.Gln3317_Arg3318insGln)
c.10022_10024dup (p.Gln3341_Arg3342insGln)
c.9743_9745dup (p.Gln3248_Arg3249insGln)
c.9527_9529dup (p.Gln3176_Arg3177insGln)
c.9668_9670dup (p.Gln3223_Arg3224insGln)
c.9617_9619dup (p.Gln3206_Arg3207insGln)
c.9614_9616dup (p.Gln3205_Arg3206insGln)
 gnomAD v4
1g.21841140C>ACA338914042HSPG2c.9474G>T (p.Gln3158His)
c.9477G>T (p.Gln3159His)
c.10020G>T (p.Gln3340His)
c.9972G>T (p.Gln3324His)
c.9951G>T (p.Gln3317His)
c.10023G>T (p.Gln3341His)
c.9744G>T (p.Gln3248His)
c.9528G>T (p.Gln3176His)
c.9669G>T (p.Gln3223His)
c.9618G>T (p.Gln3206His)
c.9615G>T (p.Gln3205His)
 gnomAD v4
1g.21841140C=CA1158133641HSPG2c.9474G= (p.Gln3158=)
c.9477G= (p.Gln3159=)
c.10020G= (p.Gln3340=)
c.9972G= (p.Gln3324=)
c.9951G= (p.Gln3317=)
c.10023G= (p.Gln3341=)
c.9744G= (p.Gln3248=)
c.9528G= (p.Gln3176=)
c.9669G= (p.Gln3223=)
c.9618G= (p.Gln3206=)
c.9615G= (p.Gln3205=)
1g.21841140C>GCA338914043HSPG2c.9474G>C (p.Gln3158His)
c.9477G>C (p.Gln3159His)
c.10020G>C (p.Gln3340His)
c.9972G>C (p.Gln3324His)
c.9951G>C (p.Gln3317His)
c.10023G>C (p.Gln3341His)
c.9744G>C (p.Gln3248His)
c.9528G>C (p.Gln3176His)
c.9669G>C (p.Gln3223His)
c.9618G>C (p.Gln3206His)
c.9615G>C (p.Gln3205His)
1g.21841140C>TCA670437HSPG2c.9474G>A (p.Gln3158=)
c.9477G>A (p.Gln3159=)
c.10020G>A (p.Gln3340=)
c.9972G>A (p.Gln3324=)
c.9951G>A (p.Gln3317=)
c.10023G>A (p.Gln3341=)
c.9744G>A (p.Gln3248=)
c.9528G>A (p.Gln3176=)
c.9669G>A (p.Gln3223=)
c.9618G>A (p.Gln3206=)
c.9615G>A (p.Gln3205=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841141T>ACA338914045HSPG2c.9473A>T (p.Gln3158Leu)
c.9476A>T (p.Gln3159Leu)
c.10019A>T (p.Gln3340Leu)
c.9971A>T (p.Gln3324Leu)
c.9950A>T (p.Gln3317Leu)
c.10022A>T (p.Gln3341Leu)
c.9743A>T (p.Gln3248Leu)
c.9527A>T (p.Gln3176Leu)
c.9668A>T (p.Gln3223Leu)
c.9617A>T (p.Gln3206Leu)
c.9614A>T (p.Gln3205Leu)
1g.21841141T>CCA338914046HSPG2c.9473A>G (p.Gln3158Arg)
c.9476A>G (p.Gln3159Arg)
c.10019A>G (p.Gln3340Arg)
c.9971A>G (p.Gln3324Arg)
c.9950A>G (p.Gln3317Arg)
c.10022A>G (p.Gln3341Arg)
c.9743A>G (p.Gln3248Arg)
c.9527A>G (p.Gln3176Arg)
c.9668A>G (p.Gln3223Arg)
c.9617A>G (p.Gln3206Arg)
c.9614A>G (p.Gln3205Arg)
1g.21841141T>GCA338914044HSPG2c.9473A>C (p.Gln3158Pro)
c.9476A>C (p.Gln3159Pro)
c.10019A>C (p.Gln3340Pro)
c.9971A>C (p.Gln3324Pro)
c.9950A>C (p.Gln3317Pro)
c.10022A>C (p.Gln3341Pro)
c.9743A>C (p.Gln3248Pro)
c.9527A>C (p.Gln3176Pro)
c.9668A>C (p.Gln3223Pro)
c.9617A>C (p.Gln3206Pro)
c.9614A>C (p.Gln3205Pro)
1g.21841142G>ACA338914047HSPG2c.9472C>T (p.Gln3158Ter)
c.9475C>T (p.Gln3159Ter)
c.10018C>T (p.Gln3340Ter)
c.9970C>T (p.Gln3324Ter)
c.9949C>T (p.Gln3317Ter)
c.10021C>T (p.Gln3341Ter)
c.9742C>T (p.Gln3248Ter)
c.9526C>T (p.Gln3176Ter)
c.9667C>T (p.Gln3223Ter)
c.9616C>T (p.Gln3206Ter)
c.9613C>T (p.Gln3205Ter)
1g.21841142G>CCA338914048HSPG2c.9472C>G (p.Gln3158Glu)
c.9475C>G (p.Gln3159Glu)
c.10018C>G (p.Gln3340Glu)
c.9970C>G (p.Gln3324Glu)
c.9949C>G (p.Gln3317Glu)
c.10021C>G (p.Gln3341Glu)
c.9742C>G (p.Gln3248Glu)
c.9526C>G (p.Gln3176Glu)
c.9667C>G (p.Gln3223Glu)
c.9616C>G (p.Gln3206Glu)
c.9613C>G (p.Gln3205Glu)
1g.21841142G>TCA338914049HSPG2c.9472C>A (p.Gln3158Lys)
c.9475C>A (p.Gln3159Lys)
c.10018C>A (p.Gln3340Lys)
c.9970C>A (p.Gln3324Lys)
c.9949C>A (p.Gln3317Lys)
c.10021C>A (p.Gln3341Lys)
c.9742C>A (p.Gln3248Lys)
c.9526C>A (p.Gln3176Lys)
c.9667C>A (p.Gln3223Lys)
c.9616C>A (p.Gln3206Lys)
c.9613C>A (p.Gln3205Lys)
1g.21841143C>ACA338914051HSPG2c.9471G>T (p.Glu3157Asp)
c.9474G>T (p.Glu3158Asp)
c.10017G>T (p.Glu3339Asp)
c.9969G>T (p.Glu3323Asp)
c.9948G>T (p.Glu3316Asp)
c.10020G>T (p.Glu3340Asp)
c.9741G>T (p.Glu3247Asp)
c.9525G>T (p.Glu3175Asp)
c.9666G>T (p.Glu3222Asp)
c.9615G>T (p.Glu3205Asp)
c.9612G>T (p.Glu3204Asp)
1g.21841143C=CA1158133642HSPG2c.9471G= (p.Glu3157=)
c.9474G= (p.Glu3158=)
c.10017G= (p.Glu3339=)
c.9969G= (p.Glu3323=)
c.9948G= (p.Glu3316=)
c.10020G= (p.Glu3340=)
c.9741G= (p.Glu3247=)
c.9525G= (p.Glu3175=)
c.9666G= (p.Glu3222=)
c.9615G= (p.Glu3205=)
c.9612G= (p.Glu3204=)
1g.21841143C>GCA338914052HSPG2c.9471G>C (p.Glu3157Asp)
c.9474G>C (p.Glu3158Asp)
c.10017G>C (p.Glu3339Asp)
c.9969G>C (p.Glu3323Asp)
c.9948G>C (p.Glu3316Asp)
c.10020G>C (p.Glu3340Asp)
c.9741G>C (p.Glu3247Asp)
c.9525G>C (p.Glu3175Asp)
c.9666G>C (p.Glu3222Asp)
c.9615G>C (p.Glu3205Asp)
c.9612G>C (p.Glu3204Asp)
1g.21841143C>TCA670438HSPG2c.9471G>A (p.Glu3157=)
c.9474G>A (p.Glu3158=)
c.10017G>A (p.Glu3339=)
c.9969G>A (p.Glu3323=)
c.9948G>A (p.Glu3316=)
c.10020G>A (p.Glu3340=)
c.9741G>A (p.Glu3247=)
c.9525G>A (p.Glu3175=)
c.9666G>A (p.Glu3222=)
c.9615G>A (p.Glu3205=)
c.9612G>A (p.Glu3204=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21841144T>ACA338914055HSPG2c.9470A>T (p.Glu3157Val)
c.9473A>T (p.Glu3158Val)
c.10016A>T (p.Glu3339Val)
c.9968A>T (p.Glu3323Val)
c.9947A>T (p.Glu3316Val)
c.10019A>T (p.Glu3340Val)
c.9740A>T (p.Glu3247Val)
c.9524A>T (p.Glu3175Val)
c.9665A>T (p.Glu3222Val)
c.9614A>T (p.Glu3205Val)
c.9611A>T (p.Glu3204Val)
1g.21841144T>CCA338914053HSPG2c.9470A>G (p.Glu3157Gly)
c.9473A>G (p.Glu3158Gly)
c.10016A>G (p.Glu3339Gly)
c.9968A>G (p.Glu3323Gly)
c.9947A>G (p.Glu3316Gly)
c.10019A>G (p.Glu3340Gly)
c.9740A>G (p.Glu3247Gly)
c.9524A>G (p.Glu3175Gly)
c.9665A>G (p.Glu3222Gly)
c.9614A>G (p.Glu3205Gly)
c.9611A>G (p.Glu3204Gly)
 dbSNP
1g.21841144T>GCA338914054HSPG2c.9470A>C (p.Glu3157Ala)
c.9473A>C (p.Glu3158Ala)
c.10016A>C (p.Glu3339Ala)
c.9968A>C (p.Glu3323Ala)
c.9947A>C (p.Glu3316Ala)
c.10019A>C (p.Glu3340Ala)
c.9740A>C (p.Glu3247Ala)
c.9524A>C (p.Glu3175Ala)
c.9665A>C (p.Glu3222Ala)
c.9614A>C (p.Glu3205Ala)
c.9611A>C (p.Glu3204Ala)
1g.21841144T=CA1158133643HSPG2c.9470A= (p.Glu3157=)
c.9473A= (p.Glu3158=)
c.10016A= (p.Glu3339=)
c.9968A= (p.Glu3323=)
c.9947A= (p.Glu3316=)
c.10019A= (p.Glu3340=)
c.9740A= (p.Glu3247=)
c.9524A= (p.Glu3175=)
c.9665A= (p.Glu3222=)
c.9614A= (p.Glu3205=)
c.9611A= (p.Glu3204=)
1g.21841145C>ACA338914056HSPG2c.9469G>T (p.Glu3157Ter)
c.9472G>T (p.Glu3158Ter)
c.10015G>T (p.Glu3339Ter)
c.9967G>T (p.Glu3323Ter)
c.9946G>T (p.Glu3316Ter)
c.10018G>T (p.Glu3340Ter)
c.9739G>T (p.Glu3247Ter)
c.9523G>T (p.Glu3175Ter)
c.9664G>T (p.Glu3222Ter)
c.9613G>T (p.Glu3205Ter)
c.9610G>T (p.Glu3204Ter)
1g.21841145C>GCA338914057HSPG2c.9469G>C (p.Glu3157Gln)
c.9472G>C (p.Glu3158Gln)
c.10015G>C (p.Glu3339Gln)
c.9967G>C (p.Glu3323Gln)
c.9946G>C (p.Glu3316Gln)
c.10018G>C (p.Glu3340Gln)
c.9739G>C (p.Glu3247Gln)
c.9523G>C (p.Glu3175Gln)
c.9664G>C (p.Glu3222Gln)
c.9613G>C (p.Glu3205Gln)
c.9610G>C (p.Glu3204Gln)
 gnomAD v4
1g.21841145C>TCA338914058HSPG2c.9469G>A (p.Glu3157Lys)
c.9472G>A (p.Glu3158Lys)
c.10015G>A (p.Glu3339Lys)
c.9967G>A (p.Glu3323Lys)
c.9946G>A (p.Glu3316Lys)
c.10018G>A (p.Glu3340Lys)
c.9739G>A (p.Glu3247Lys)
c.9523G>A (p.Glu3175Lys)
c.9664G>A (p.Glu3222Lys)
c.9613G>A (p.Glu3205Lys)
c.9610G>A (p.Glu3204Lys)
 dbSNP
1g.21841146C>ACA338914059HSPG2c.9468G>T (p.Leu3156Phe)
c.9471G>T (p.Leu3157Phe)
c.10014G>T (p.Leu3338Phe)
c.9966G>T (p.Leu3322Phe)
c.9945G>T (p.Leu3315Phe)
c.10017G>T (p.Leu3339Phe)
c.9738G>T (p.Leu3246Phe)
c.9522G>T (p.Leu3174Phe)
c.9663G>T (p.Leu3221Phe)
c.9612G>T (p.Leu3204Phe)
c.9609G>T (p.Leu3203Phe)
1g.21841146C=CA1158133644HSPG2c.9468G= (p.Leu3156=)
c.9471G= (p.Leu3157=)
c.10014G= (p.Leu3338=)
c.9966G= (p.Leu3322=)
c.9945G= (p.Leu3315=)
c.10017G= (p.Leu3339=)
c.9738G= (p.Leu3246=)
c.9522G= (p.Leu3174=)
c.9663G= (p.Leu3221=)
c.9612G= (p.Leu3204=)
c.9609G= (p.Leu3203=)
1g.21841146C>GCA338914060HSPG2c.9468G>C (p.Leu3156Phe)
c.9471G>C (p.Leu3157Phe)
c.10014G>C (p.Leu3338Phe)
c.9966G>C (p.Leu3322Phe)
c.9945G>C (p.Leu3315Phe)
c.10017G>C (p.Leu3339Phe)
c.9738G>C (p.Leu3246Phe)
c.9522G>C (p.Leu3174Phe)
c.9663G>C (p.Leu3221Phe)
c.9612G>C (p.Leu3204Phe)
c.9609G>C (p.Leu3203Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.21841146C>TCA416547344HSPG2c.9468G>A (p.Leu3156=)
c.9471G>A (p.Leu3157=)
c.10014G>A (p.Leu3338=)
c.9966G>A (p.Leu3322=)
c.9945G>A (p.Leu3315=)
c.10017G>A (p.Leu3339=)
c.9738G>A (p.Leu3246=)
c.9522G>A (p.Leu3174=)
c.9663G>A (p.Leu3221=)
c.9612G>A (p.Leu3204=)
c.9609G>A (p.Leu3203=)

Number of alleles fetched