Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21842260_21842261delinsAACA2573132173HSPG2c.9030_9031delinsTT (p.Pro3011Ser)
c.9033_9034delinsTT (p.Pro3012Ser)
c.9576_9577delinsTT (p.Pro3193Ser)
c.9528_9529delinsTT (p.Pro3177Ser)
c.9507_9508delinsTT (p.Pro3170Ser)
c.9579_9580delinsTT (p.Pro3194Ser)
c.9300_9301delinsTT (p.Pro3101Ser)
c.9084_9085delinsTT (p.Pro3029Ser)
c.9225_9226delinsTT (p.Pro3076Ser)
c.9174_9175delinsTT (p.Pro3059Ser)
c.9171_9172delinsTT (p.Pro3058Ser)
 ClinVar dbSNP
1g.21842261C>ACA416679259HSPG2c.9030G>T (p.Pro3010=)
c.9033G>T (p.Pro3011=)
c.9576G>T (p.Pro3192=)
c.9528G>T (p.Pro3176=)
c.9507G>T (p.Pro3169=)
c.9579G>T (p.Pro3193=)
c.9300G>T (p.Pro3100=)
c.9084G>T (p.Pro3028=)
c.9225G>T (p.Pro3075=)
c.9174G>T (p.Pro3058=)
c.9171G>T (p.Pro3057=)
1g.21842261C=CA1143523501HSPG2c.9030G= (p.Pro3010=)
c.9033G= (p.Pro3011=)
c.9576G= (p.Pro3192=)
c.9528G= (p.Pro3176=)
c.9507G= (p.Pro3169=)
c.9579G= (p.Pro3193=)
c.9300G= (p.Pro3100=)
c.9084G= (p.Pro3028=)
c.9225G= (p.Pro3075=)
c.9174G= (p.Pro3058=)
c.9171G= (p.Pro3057=)
1g.21842261C>GCA416679260HSPG2c.9030G>C (p.Pro3010=)
c.9033G>C (p.Pro3011=)
c.9576G>C (p.Pro3192=)
c.9528G>C (p.Pro3176=)
c.9507G>C (p.Pro3169=)
c.9579G>C (p.Pro3193=)
c.9300G>C (p.Pro3100=)
c.9084G>C (p.Pro3028=)
c.9225G>C (p.Pro3075=)
c.9174G>C (p.Pro3058=)
c.9171G>C (p.Pro3057=)
1g.21842261C>TCA670586HSPG2c.9030G>A (p.Pro3010=)
c.9033G>A (p.Pro3011=)
c.9576G>A (p.Pro3192=)
c.9528G>A (p.Pro3176=)
c.9507G>A (p.Pro3169=)
c.9579G>A (p.Pro3193=)
c.9300G>A (p.Pro3100=)
c.9084G>A (p.Pro3028=)
c.9225G>A (p.Pro3075=)
c.9174G>A (p.Pro3058=)
c.9171G>A (p.Pro3057=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842262G>ACA338915636HSPG2c.9029C>T (p.Pro3010Leu)
c.9032C>T (p.Pro3011Leu)
c.9575C>T (p.Pro3192Leu)
c.9527C>T (p.Pro3176Leu)
c.9506C>T (p.Pro3169Leu)
c.9578C>T (p.Pro3193Leu)
c.9299C>T (p.Pro3100Leu)
c.9083C>T (p.Pro3028Leu)
c.9224C>T (p.Pro3075Leu)
c.9173C>T (p.Pro3058Leu)
c.9170C>T (p.Pro3057Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21842262G>CCA338915632HSPG2c.9029C>G (p.Pro3010Arg)
c.9032C>G (p.Pro3011Arg)
c.9575C>G (p.Pro3192Arg)
c.9527C>G (p.Pro3176Arg)
c.9506C>G (p.Pro3169Arg)
c.9578C>G (p.Pro3193Arg)
c.9299C>G (p.Pro3100Arg)
c.9083C>G (p.Pro3028Arg)
c.9224C>G (p.Pro3075Arg)
c.9173C>G (p.Pro3058Arg)
c.9170C>G (p.Pro3057Arg)
 dbSNP
1g.21842262G=CA1158134055HSPG2c.9029C= (p.Pro3010=)
c.9032C= (p.Pro3011=)
c.9575C= (p.Pro3192=)
c.9527C= (p.Pro3176=)
c.9506C= (p.Pro3169=)
c.9578C= (p.Pro3193=)
c.9299C= (p.Pro3100=)
c.9083C= (p.Pro3028=)
c.9224C= (p.Pro3075=)
c.9173C= (p.Pro3058=)
c.9170C= (p.Pro3057=)
1g.21842262G>TCA338915634HSPG2c.9029C>A (p.Pro3010Gln)
c.9032C>A (p.Pro3011Gln)
c.9575C>A (p.Pro3192Gln)
c.9527C>A (p.Pro3176Gln)
c.9506C>A (p.Pro3169Gln)
c.9578C>A (p.Pro3193Gln)
c.9299C>A (p.Pro3100Gln)
c.9083C>A (p.Pro3028Gln)
c.9224C>A (p.Pro3075Gln)
c.9173C>A (p.Pro3058Gln)
c.9170C>A (p.Pro3057Gln)
1g.21842264delCA2643962825HSPG2c.9029del (p.Pro3010ArgfsTer?)
c.9032del (p.Pro3011ArgfsTer?)
c.9575del (p.Pro3192ArgfsTer?)
c.9527del (p.Pro3176ArgfsTer?)
c.9506del (p.Pro3169ArgfsTer?)
c.9578del (p.Pro3193ArgfsTer?)
c.9299del (p.Pro3100ArgfsTer?)
c.9083del (p.Pro3028ArgfsTer?)
c.9224del (p.Pro3075ArgfsTer?)
c.9173del (p.Pro3058ArgfsTer?)
c.9170del (p.Pro3057ArgfsTer?)
 gnomAD v4
1g.21842263G>ACA338915637HSPG2c.9028C>T (p.Pro3010Ser)
c.9031C>T (p.Pro3011Ser)
c.9574C>T (p.Pro3192Ser)
c.9526C>T (p.Pro3176Ser)
c.9505C>T (p.Pro3169Ser)
c.9577C>T (p.Pro3193Ser)
c.9298C>T (p.Pro3100Ser)
c.9082C>T (p.Pro3028Ser)
c.9223C>T (p.Pro3075Ser)
c.9172C>T (p.Pro3058Ser)
c.9169C>T (p.Pro3057Ser)
 gnomAD v4 COSMIC
1g.21842263G>CCA338915638HSPG2c.9028C>G (p.Pro3010Ala)
c.9031C>G (p.Pro3011Ala)
c.9574C>G (p.Pro3192Ala)
c.9526C>G (p.Pro3176Ala)
c.9505C>G (p.Pro3169Ala)
c.9577C>G (p.Pro3193Ala)
c.9298C>G (p.Pro3100Ala)
c.9082C>G (p.Pro3028Ala)
c.9223C>G (p.Pro3075Ala)
c.9172C>G (p.Pro3058Ala)
c.9169C>G (p.Pro3057Ala)
1g.21842263G>TCA338915640HSPG2c.9028C>A (p.Pro3010Thr)
c.9031C>A (p.Pro3011Thr)
c.9574C>A (p.Pro3192Thr)
c.9526C>A (p.Pro3176Thr)
c.9505C>A (p.Pro3169Thr)
c.9577C>A (p.Pro3193Thr)
c.9298C>A (p.Pro3100Thr)
c.9082C>A (p.Pro3028Thr)
c.9223C>A (p.Pro3075Thr)
c.9172C>A (p.Pro3058Thr)
c.9169C>A (p.Pro3057Thr)
1g.21842264G>ACA416679262HSPG2c.9027C>T (p.Val3009=)
c.9030C>T (p.Val3010=)
c.9573C>T (p.Val3191=)
c.9525C>T (p.Val3175=)
c.9504C>T (p.Val3168=)
c.9576C>T (p.Val3192=)
c.9297C>T (p.Val3099=)
c.9081C>T (p.Val3027=)
c.9222C>T (p.Val3074=)
c.9171C>T (p.Val3057=)
c.9168C>T (p.Val3056=)
1g.21842264G>CCA416679264HSPG2c.9027C>G (p.Val3009=)
c.9030C>G (p.Val3010=)
c.9573C>G (p.Val3191=)
c.9525C>G (p.Val3175=)
c.9504C>G (p.Val3168=)
c.9576C>G (p.Val3192=)
c.9297C>G (p.Val3099=)
c.9081C>G (p.Val3027=)
c.9222C>G (p.Val3074=)
c.9171C>G (p.Val3057=)
c.9168C>G (p.Val3056=)
1g.21842264G>TCA416679263HSPG2c.9027C>A (p.Val3009=)
c.9030C>A (p.Val3010=)
c.9573C>A (p.Val3191=)
c.9525C>A (p.Val3175=)
c.9504C>A (p.Val3168=)
c.9576C>A (p.Val3192=)
c.9297C>A (p.Val3099=)
c.9081C>A (p.Val3027=)
c.9222C>A (p.Val3074=)
c.9171C>A (p.Val3057=)
c.9168C>A (p.Val3056=)
1g.21842265A>CCA338915642HSPG2c.9026T>G (p.Val3009Gly)
c.9029T>G (p.Val3010Gly)
c.9572T>G (p.Val3191Gly)
c.9524T>G (p.Val3175Gly)
c.9503T>G (p.Val3168Gly)
c.9575T>G (p.Val3192Gly)
c.9296T>G (p.Val3099Gly)
c.9080T>G (p.Val3027Gly)
c.9221T>G (p.Val3074Gly)
c.9170T>G (p.Val3057Gly)
c.9167T>G (p.Val3056Gly)
1g.21842265A>GCA338915644HSPG2c.9026T>C (p.Val3009Ala)
c.9029T>C (p.Val3010Ala)
c.9572T>C (p.Val3191Ala)
c.9524T>C (p.Val3175Ala)
c.9503T>C (p.Val3168Ala)
c.9575T>C (p.Val3192Ala)
c.9296T>C (p.Val3099Ala)
c.9080T>C (p.Val3027Ala)
c.9221T>C (p.Val3074Ala)
c.9170T>C (p.Val3057Ala)
c.9167T>C (p.Val3056Ala)
 gnomAD v4
1g.21842265A>TCA338915645HSPG2c.9026T>A (p.Val3009Asp)
c.9029T>A (p.Val3010Asp)
c.9572T>A (p.Val3191Asp)
c.9524T>A (p.Val3175Asp)
c.9503T>A (p.Val3168Asp)
c.9575T>A (p.Val3192Asp)
c.9296T>A (p.Val3099Asp)
c.9080T>A (p.Val3027Asp)
c.9221T>A (p.Val3074Asp)
c.9170T>A (p.Val3057Asp)
c.9167T>A (p.Val3056Asp)
1g.21842266C>ACA338915647HSPG2c.9025G>T (p.Val3009Phe)
c.9028G>T (p.Val3010Phe)
c.9571G>T (p.Val3191Phe)
c.9523G>T (p.Val3175Phe)
c.9502G>T (p.Val3168Phe)
c.9574G>T (p.Val3192Phe)
c.9295G>T (p.Val3099Phe)
c.9079G>T (p.Val3027Phe)
c.9220G>T (p.Val3074Phe)
c.9169G>T (p.Val3057Phe)
c.9166G>T (p.Val3056Phe)
1g.21842266C=CA1145626941HSPG2c.9025G= (p.Val3009=)
c.9028G= (p.Val3010=)
c.9571G= (p.Val3191=)
c.9523G= (p.Val3175=)
c.9502G= (p.Val3168=)
c.9574G= (p.Val3192=)
c.9295G= (p.Val3099=)
c.9079G= (p.Val3027=)
c.9220G= (p.Val3074=)
c.9169G= (p.Val3057=)
c.9166G= (p.Val3056=)
1g.21842266C>GCA338915649HSPG2c.9025G>C (p.Val3009Leu)
c.9028G>C (p.Val3010Leu)
c.9571G>C (p.Val3191Leu)
c.9523G>C (p.Val3175Leu)
c.9502G>C (p.Val3168Leu)
c.9574G>C (p.Val3192Leu)
c.9295G>C (p.Val3099Leu)
c.9079G>C (p.Val3027Leu)
c.9220G>C (p.Val3074Leu)
c.9169G>C (p.Val3057Leu)
c.9166G>C (p.Val3056Leu)
1g.21842266C>TCA670587HSPG2c.9025G>A (p.Val3009Ile)
c.9028G>A (p.Val3010Ile)
c.9571G>A (p.Val3191Ile)
c.9523G>A (p.Val3175Ile)
c.9502G>A (p.Val3168Ile)
c.9574G>A (p.Val3192Ile)
c.9295G>A (p.Val3099Ile)
c.9079G>A (p.Val3027Ile)
c.9220G>A (p.Val3074Ile)
c.9169G>A (p.Val3057Ile)
c.9166G>A (p.Val3056Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842267G>ACA670588HSPG2c.9024C>T (p.Thr3008=)
c.9027C>T (p.Thr3009=)
c.9570C>T (p.Thr3190=)
c.9522C>T (p.Thr3174=)
c.9501C>T (p.Thr3167=)
c.9573C>T (p.Thr3191=)
c.9294C>T (p.Thr3098=)
c.9078C>T (p.Thr3026=)
c.9219C>T (p.Thr3073=)
c.9168C>T (p.Thr3056=)
c.9165C>T (p.Thr3055=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842267G>CCA416679266HSPG2c.9024C>G (p.Thr3008=)
c.9027C>G (p.Thr3009=)
c.9570C>G (p.Thr3190=)
c.9522C>G (p.Thr3174=)
c.9501C>G (p.Thr3167=)
c.9573C>G (p.Thr3191=)
c.9294C>G (p.Thr3098=)
c.9078C>G (p.Thr3026=)
c.9219C>G (p.Thr3073=)
c.9168C>G (p.Thr3056=)
c.9165C>G (p.Thr3055=)
1g.21842267G=CA1158134056HSPG2c.9024C= (p.Thr3008=)
c.9027C= (p.Thr3009=)
c.9570C= (p.Thr3190=)
c.9522C= (p.Thr3174=)
c.9501C= (p.Thr3167=)
c.9573C= (p.Thr3191=)
c.9294C= (p.Thr3098=)
c.9078C= (p.Thr3026=)
c.9219C= (p.Thr3073=)
c.9168C= (p.Thr3056=)
c.9165C= (p.Thr3055=)
1g.21842267G>TCA416679265HSPG2c.9024C>A (p.Thr3008=)
c.9027C>A (p.Thr3009=)
c.9570C>A (p.Thr3190=)
c.9522C>A (p.Thr3174=)
c.9501C>A (p.Thr3167=)
c.9573C>A (p.Thr3191=)
c.9294C>A (p.Thr3098=)
c.9078C>A (p.Thr3026=)
c.9219C>A (p.Thr3073=)
c.9168C>A (p.Thr3056=)
c.9165C>A (p.Thr3055=)
1g.21842268G>ACA338915654HSPG2c.9023C>T (p.Thr3008Ile)
c.9026C>T (p.Thr3009Ile)
c.9569C>T (p.Thr3190Ile)
c.9521C>T (p.Thr3174Ile)
c.9500C>T (p.Thr3167Ile)
c.9572C>T (p.Thr3191Ile)
c.9293C>T (p.Thr3098Ile)
c.9077C>T (p.Thr3026Ile)
c.9218C>T (p.Thr3073Ile)
c.9167C>T (p.Thr3056Ile)
c.9164C>T (p.Thr3055Ile)
1g.21842268G>CCA338915653HSPG2c.9023C>G (p.Thr3008Ser)
c.9026C>G (p.Thr3009Ser)
c.9569C>G (p.Thr3190Ser)
c.9521C>G (p.Thr3174Ser)
c.9500C>G (p.Thr3167Ser)
c.9572C>G (p.Thr3191Ser)
c.9293C>G (p.Thr3098Ser)
c.9077C>G (p.Thr3026Ser)
c.9218C>G (p.Thr3073Ser)
c.9167C>G (p.Thr3056Ser)
c.9164C>G (p.Thr3055Ser)
1g.21842268G>TCA338915652HSPG2c.9023C>A (p.Thr3008Asn)
c.9026C>A (p.Thr3009Asn)
c.9569C>A (p.Thr3190Asn)
c.9521C>A (p.Thr3174Asn)
c.9500C>A (p.Thr3167Asn)
c.9572C>A (p.Thr3191Asn)
c.9293C>A (p.Thr3098Asn)
c.9077C>A (p.Thr3026Asn)
c.9218C>A (p.Thr3073Asn)
c.9167C>A (p.Thr3056Asn)
c.9164C>A (p.Thr3055Asn)
 ClinVar gnomAD v4
1g.21842269T>ACA338915656HSPG2c.9022A>T (p.Thr3008Ser)
c.9025A>T (p.Thr3009Ser)
c.9568A>T (p.Thr3190Ser)
c.9520A>T (p.Thr3174Ser)
c.9499A>T (p.Thr3167Ser)
c.9571A>T (p.Thr3191Ser)
c.9292A>T (p.Thr3098Ser)
c.9076A>T (p.Thr3026Ser)
c.9217A>T (p.Thr3073Ser)
c.9166A>T (p.Thr3056Ser)
c.9163A>T (p.Thr3055Ser)
1g.21842269T>CCA338915658HSPG2c.9022A>G (p.Thr3008Ala)
c.9025A>G (p.Thr3009Ala)
c.9568A>G (p.Thr3190Ala)
c.9520A>G (p.Thr3174Ala)
c.9499A>G (p.Thr3167Ala)
c.9571A>G (p.Thr3191Ala)
c.9292A>G (p.Thr3098Ala)
c.9076A>G (p.Thr3026Ala)
c.9217A>G (p.Thr3073Ala)
c.9166A>G (p.Thr3056Ala)
c.9163A>G (p.Thr3055Ala)
1g.21842269T>GCA338915660HSPG2c.9022A>C (p.Thr3008Pro)
c.9025A>C (p.Thr3009Pro)
c.9568A>C (p.Thr3190Pro)
c.9520A>C (p.Thr3174Pro)
c.9499A>C (p.Thr3167Pro)
c.9571A>C (p.Thr3191Pro)
c.9292A>C (p.Thr3098Pro)
c.9076A>C (p.Thr3026Pro)
c.9217A>C (p.Thr3073Pro)
c.9166A>C (p.Thr3056Pro)
c.9163A>C (p.Thr3055Pro)
1g.21842270G>ACA416679270HSPG2c.9021C>T (p.Val3007=)
c.9024C>T (p.Val3008=)
c.9567C>T (p.Val3189=)
c.9519C>T (p.Val3173=)
c.9498C>T (p.Val3166=)
c.9570C>T (p.Val3190=)
c.9291C>T (p.Val3097=)
c.9075C>T (p.Val3025=)
c.9216C>T (p.Val3072=)
c.9165C>T (p.Val3055=)
c.9162C>T (p.Val3054=)
1g.21842270G>CCA416679269HSPG2c.9021C>G (p.Val3007=)
c.9024C>G (p.Val3008=)
c.9567C>G (p.Val3189=)
c.9519C>G (p.Val3173=)
c.9498C>G (p.Val3166=)
c.9570C>G (p.Val3190=)
c.9291C>G (p.Val3097=)
c.9075C>G (p.Val3025=)
c.9216C>G (p.Val3072=)
c.9165C>G (p.Val3055=)
c.9162C>G (p.Val3054=)
1g.21842270G>TCA416679271HSPG2c.9021C>A (p.Val3007=)
c.9024C>A (p.Val3008=)
c.9567C>A (p.Val3189=)
c.9519C>A (p.Val3173=)
c.9498C>A (p.Val3166=)
c.9570C>A (p.Val3190=)
c.9291C>A (p.Val3097=)
c.9075C>A (p.Val3025=)
c.9216C>A (p.Val3072=)
c.9165C>A (p.Val3055=)
c.9162C>A (p.Val3054=)
1g.21842271A=CA1158134058HSPG2c.9020T= (p.Val3007=)
c.9023T= (p.Val3008=)
c.9566T= (p.Val3189=)
c.9518T= (p.Val3173=)
c.9497T= (p.Val3166=)
c.9569T= (p.Val3190=)
c.9290T= (p.Val3097=)
c.9074T= (p.Val3025=)
c.9215T= (p.Val3072=)
c.9164T= (p.Val3055=)
c.9161T= (p.Val3054=)
1g.21842271A>CCA338915661HSPG2c.9020T>G (p.Val3007Gly)
c.9023T>G (p.Val3008Gly)
c.9566T>G (p.Val3189Gly)
c.9518T>G (p.Val3173Gly)
c.9497T>G (p.Val3166Gly)
c.9569T>G (p.Val3190Gly)
c.9290T>G (p.Val3097Gly)
c.9074T>G (p.Val3025Gly)
c.9215T>G (p.Val3072Gly)
c.9164T>G (p.Val3055Gly)
c.9161T>G (p.Val3054Gly)
1g.21842271A>GCA338915662HSPG2c.9020T>C (p.Val3007Ala)
c.9023T>C (p.Val3008Ala)
c.9566T>C (p.Val3189Ala)
c.9518T>C (p.Val3173Ala)
c.9497T>C (p.Val3166Ala)
c.9569T>C (p.Val3190Ala)
c.9290T>C (p.Val3097Ala)
c.9074T>C (p.Val3025Ala)
c.9215T>C (p.Val3072Ala)
c.9164T>C (p.Val3055Ala)
c.9161T>C (p.Val3054Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.21842271A>TCA338915664HSPG2c.9020T>A (p.Val3007Asp)
c.9023T>A (p.Val3008Asp)
c.9566T>A (p.Val3189Asp)
c.9518T>A (p.Val3173Asp)
c.9497T>A (p.Val3166Asp)
c.9569T>A (p.Val3190Asp)
c.9290T>A (p.Val3097Asp)
c.9074T>A (p.Val3025Asp)
c.9215T>A (p.Val3072Asp)
c.9164T>A (p.Val3055Asp)
c.9161T>A (p.Val3054Asp)
1g.21842271_21842272delinsACCA1158134057HSPG2c.9019_9020delinsGT (p.Val3007=)
c.9022_9023delinsGT (p.Val3008=)
c.9565_9566delinsGT (p.Val3189=)
c.9517_9518delinsGT (p.Val3173=)
c.9496_9497delinsGT (p.Val3166=)
c.9568_9569delinsGT (p.Val3190=)
c.9289_9290delinsGT (p.Val3097=)
c.9073_9074delinsGT (p.Val3025=)
c.9214_9215delinsGT (p.Val3072=)
c.9163_9164delinsGT (p.Val3055=)
c.9160_9161delinsGT (p.Val3054=)
1g.21842272delCA521900371HSPG2c.9019del (p.Val3007SerfsTer?)
c.9022del (p.Val3008SerfsTer?)
c.9565del (p.Val3189SerfsTer?)
c.9517del (p.Val3173SerfsTer?)
c.9496del (p.Val3166SerfsTer?)
c.9568del (p.Val3190SerfsTer?)
c.9289del (p.Val3097SerfsTer?)
c.9073del (p.Val3025SerfsTer?)
c.9214del (p.Val3072SerfsTer?)
c.9163del (p.Val3055SerfsTer?)
c.9160del (p.Val3054SerfsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.21842272C>ACA338915666HSPG2c.9019G>T (p.Val3007Phe)
c.9022G>T (p.Val3008Phe)
c.9565G>T (p.Val3189Phe)
c.9517G>T (p.Val3173Phe)
c.9496G>T (p.Val3166Phe)
c.9568G>T (p.Val3190Phe)
c.9289G>T (p.Val3097Phe)
c.9073G>T (p.Val3025Phe)
c.9214G>T (p.Val3072Phe)
c.9163G>T (p.Val3055Phe)
c.9160G>T (p.Val3054Phe)
1g.21842272C=CA1158134059HSPG2c.9019G= (p.Val3007=)
c.9022G= (p.Val3008=)
c.9565G= (p.Val3189=)
c.9517G= (p.Val3173=)
c.9496G= (p.Val3166=)
c.9568G= (p.Val3190=)
c.9289G= (p.Val3097=)
c.9073G= (p.Val3025=)
c.9214G= (p.Val3072=)
c.9163G= (p.Val3055=)
c.9160G= (p.Val3054=)
1g.21842272C>GCA338915668HSPG2c.9019G>C (p.Val3007Leu)
c.9022G>C (p.Val3008Leu)
c.9565G>C (p.Val3189Leu)
c.9517G>C (p.Val3173Leu)
c.9496G>C (p.Val3166Leu)
c.9568G>C (p.Val3190Leu)
c.9289G>C (p.Val3097Leu)
c.9073G>C (p.Val3025Leu)
c.9214G>C (p.Val3072Leu)
c.9163G>C (p.Val3055Leu)
c.9160G>C (p.Val3054Leu)
 dbSNP
1g.21842272C>TCA670589HSPG2c.9019G>A (p.Val3007Ile)
c.9022G>A (p.Val3008Ile)
c.9565G>A (p.Val3189Ile)
c.9517G>A (p.Val3173Ile)
c.9496G>A (p.Val3166Ile)
c.9568G>A (p.Val3190Ile)
c.9289G>A (p.Val3097Ile)
c.9073G>A (p.Val3025Ile)
c.9214G>A (p.Val3072Ile)
c.9163G>A (p.Val3055Ile)
c.9160G>A (p.Val3054Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842273T>ACA416679275HSPG2c.9018A>T (p.Thr3006=)
c.9021A>T (p.Thr3007=)
c.9564A>T (p.Thr3188=)
c.9516A>T (p.Thr3172=)
c.9495A>T (p.Thr3165=)
c.9567A>T (p.Thr3189=)
c.9288A>T (p.Thr3096=)
c.9072A>T (p.Thr3024=)
c.9213A>T (p.Thr3071=)
c.9162A>T (p.Thr3054=)
c.9159A>T (p.Thr3053=)
1g.21842273T>CCA670590HSPG2c.9018A>G (p.Thr3006=)
c.9021A>G (p.Thr3007=)
c.9564A>G (p.Thr3188=)
c.9516A>G (p.Thr3172=)
c.9495A>G (p.Thr3165=)
c.9567A>G (p.Thr3189=)
c.9288A>G (p.Thr3096=)
c.9072A>G (p.Thr3024=)
c.9213A>G (p.Thr3071=)
c.9162A>G (p.Thr3054=)
c.9159A>G (p.Thr3053=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21842273T>GCA416679277HSPG2c.9018A>C (p.Thr3006=)
c.9021A>C (p.Thr3007=)
c.9564A>C (p.Thr3188=)
c.9516A>C (p.Thr3172=)
c.9495A>C (p.Thr3165=)
c.9567A>C (p.Thr3189=)
c.9288A>C (p.Thr3096=)
c.9072A>C (p.Thr3024=)
c.9213A>C (p.Thr3071=)
c.9162A>C (p.Thr3054=)
c.9159A>C (p.Thr3053=)
1g.21842273T=CA1158134060HSPG2c.9018A= (p.Thr3006=)
c.9021A= (p.Thr3007=)
c.9564A= (p.Thr3188=)
c.9516A= (p.Thr3172=)
c.9495A= (p.Thr3165=)
c.9567A= (p.Thr3189=)
c.9288A= (p.Thr3096=)
c.9072A= (p.Thr3024=)
c.9213A= (p.Thr3071=)
c.9162A= (p.Thr3054=)
c.9159A= (p.Thr3053=)
1g.21842274G>ACA670591HSPG2c.9017C>T (p.Thr3006Ile)
c.9020C>T (p.Thr3007Ile)
c.9563C>T (p.Thr3188Ile)
c.9515C>T (p.Thr3172Ile)
c.9494C>T (p.Thr3165Ile)
c.9566C>T (p.Thr3189Ile)
c.9287C>T (p.Thr3096Ile)
c.9071C>T (p.Thr3024Ile)
c.9212C>T (p.Thr3071Ile)
c.9161C>T (p.Thr3054Ile)
c.9158C>T (p.Thr3053Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21842274G>CCA338915669HSPG2c.9017C>G (p.Thr3006Arg)
c.9020C>G (p.Thr3007Arg)
c.9563C>G (p.Thr3188Arg)
c.9515C>G (p.Thr3172Arg)
c.9494C>G (p.Thr3165Arg)
c.9566C>G (p.Thr3189Arg)
c.9287C>G (p.Thr3096Arg)
c.9071C>G (p.Thr3024Arg)
c.9212C>G (p.Thr3071Arg)
c.9161C>G (p.Thr3054Arg)
c.9158C>G (p.Thr3053Arg)
1g.21842274G=CA1144124685HSPG2c.9017C= (p.Thr3006=)
c.9020C= (p.Thr3007=)
c.9563C= (p.Thr3188=)
c.9515C= (p.Thr3172=)
c.9494C= (p.Thr3165=)
c.9566C= (p.Thr3189=)
c.9287C= (p.Thr3096=)
c.9071C= (p.Thr3024=)
c.9212C= (p.Thr3071=)
c.9161C= (p.Thr3054=)
c.9158C= (p.Thr3053=)
1g.21842274G>TCA338915671HSPG2c.9017C>A (p.Thr3006Lys)
c.9020C>A (p.Thr3007Lys)
c.9563C>A (p.Thr3188Lys)
c.9515C>A (p.Thr3172Lys)
c.9494C>A (p.Thr3165Lys)
c.9566C>A (p.Thr3189Lys)
c.9287C>A (p.Thr3096Lys)
c.9071C>A (p.Thr3024Lys)
c.9212C>A (p.Thr3071Lys)
c.9161C>A (p.Thr3054Lys)
c.9158C>A (p.Thr3053Lys)
1g.21842275T>ACA338915675HSPG2c.9016A>T (p.Thr3006Ser)
c.9019A>T (p.Thr3007Ser)
c.9562A>T (p.Thr3188Ser)
c.9514A>T (p.Thr3172Ser)
c.9493A>T (p.Thr3165Ser)
c.9565A>T (p.Thr3189Ser)
c.9286A>T (p.Thr3096Ser)
c.9070A>T (p.Thr3024Ser)
c.9211A>T (p.Thr3071Ser)
c.9160A>T (p.Thr3054Ser)
c.9157A>T (p.Thr3053Ser)
1g.21842275T>CCA338915674HSPG2c.9016A>G (p.Thr3006Ala)
c.9019A>G (p.Thr3007Ala)
c.9562A>G (p.Thr3188Ala)
c.9514A>G (p.Thr3172Ala)
c.9493A>G (p.Thr3165Ala)
c.9565A>G (p.Thr3189Ala)
c.9286A>G (p.Thr3096Ala)
c.9070A>G (p.Thr3024Ala)
c.9211A>G (p.Thr3071Ala)
c.9160A>G (p.Thr3054Ala)
c.9157A>G (p.Thr3053Ala)
1g.21842275T>GCA338915672HSPG2c.9016A>C (p.Thr3006Pro)
c.9019A>C (p.Thr3007Pro)
c.9562A>C (p.Thr3188Pro)
c.9514A>C (p.Thr3172Pro)
c.9493A>C (p.Thr3165Pro)
c.9565A>C (p.Thr3189Pro)
c.9286A>C (p.Thr3096Pro)
c.9070A>C (p.Thr3024Pro)
c.9211A>C (p.Thr3071Pro)
c.9160A>C (p.Thr3054Pro)
c.9157A>C (p.Thr3053Pro)
1g.21842276G>ACA416679278HSPG2c.9015C>T (p.Phe3005=)
c.9018C>T (p.Phe3006=)
c.9561C>T (p.Phe3187=)
c.9513C>T (p.Phe3171=)
c.9492C>T (p.Phe3164=)
c.9564C>T (p.Phe3188=)
c.9285C>T (p.Phe3095=)
c.9069C>T (p.Phe3023=)
c.9210C>T (p.Phe3070=)
c.9159C>T (p.Phe3053=)
c.9156C>T (p.Phe3052=)
1g.21842276G>CCA338915677HSPG2c.9015C>G (p.Phe3005Leu)
c.9018C>G (p.Phe3006Leu)
c.9561C>G (p.Phe3187Leu)
c.9513C>G (p.Phe3171Leu)
c.9492C>G (p.Phe3164Leu)
c.9564C>G (p.Phe3188Leu)
c.9285C>G (p.Phe3095Leu)
c.9069C>G (p.Phe3023Leu)
c.9210C>G (p.Phe3070Leu)
c.9159C>G (p.Phe3053Leu)
c.9156C>G (p.Phe3052Leu)
1g.21842276G>TCA338915676HSPG2c.9015C>A (p.Phe3005Leu)
c.9018C>A (p.Phe3006Leu)
c.9561C>A (p.Phe3187Leu)
c.9513C>A (p.Phe3171Leu)
c.9492C>A (p.Phe3164Leu)
c.9564C>A (p.Phe3188Leu)
c.9285C>A (p.Phe3095Leu)
c.9069C>A (p.Phe3023Leu)
c.9210C>A (p.Phe3070Leu)
c.9159C>A (p.Phe3053Leu)
c.9156C>A (p.Phe3052Leu)
1g.21842277A>CCA338915679HSPG2c.9014T>G (p.Phe3005Cys)
c.9017T>G (p.Phe3006Cys)
c.9560T>G (p.Phe3187Cys)
c.9512T>G (p.Phe3171Cys)
c.9491T>G (p.Phe3164Cys)
c.9563T>G (p.Phe3188Cys)
c.9284T>G (p.Phe3095Cys)
c.9068T>G (p.Phe3023Cys)
c.9209T>G (p.Phe3070Cys)
c.9158T>G (p.Phe3053Cys)
c.9155T>G (p.Phe3052Cys)
1g.21842277A>GCA338915681HSPG2c.9014T>C (p.Phe3005Ser)
c.9017T>C (p.Phe3006Ser)
c.9560T>C (p.Phe3187Ser)
c.9512T>C (p.Phe3171Ser)
c.9491T>C (p.Phe3164Ser)
c.9563T>C (p.Phe3188Ser)
c.9284T>C (p.Phe3095Ser)
c.9068T>C (p.Phe3023Ser)
c.9209T>C (p.Phe3070Ser)
c.9158T>C (p.Phe3053Ser)
c.9155T>C (p.Phe3052Ser)
1g.21842277A>TCA338915683HSPG2c.9014T>A (p.Phe3005Tyr)
c.9017T>A (p.Phe3006Tyr)
c.9560T>A (p.Phe3187Tyr)
c.9512T>A (p.Phe3171Tyr)
c.9491T>A (p.Phe3164Tyr)
c.9563T>A (p.Phe3188Tyr)
c.9284T>A (p.Phe3095Tyr)
c.9068T>A (p.Phe3023Tyr)
c.9209T>A (p.Phe3070Tyr)
c.9158T>A (p.Phe3053Tyr)
c.9155T>A (p.Phe3052Tyr)
1g.21842278A>CCA338915684HSPG2c.9013T>G (p.Phe3005Val)
c.9016T>G (p.Phe3006Val)
c.9559T>G (p.Phe3187Val)
c.9511T>G (p.Phe3171Val)
c.9490T>G (p.Phe3164Val)
c.9562T>G (p.Phe3188Val)
c.9283T>G (p.Phe3095Val)
c.9067T>G (p.Phe3023Val)
c.9208T>G (p.Phe3070Val)
c.9157T>G (p.Phe3053Val)
c.9154T>G (p.Phe3052Val)
1g.21842278A>GCA338915685HSPG2c.9013T>C (p.Phe3005Leu)
c.9016T>C (p.Phe3006Leu)
c.9559T>C (p.Phe3187Leu)
c.9511T>C (p.Phe3171Leu)
c.9490T>C (p.Phe3164Leu)
c.9562T>C (p.Phe3188Leu)
c.9283T>C (p.Phe3095Leu)
c.9067T>C (p.Phe3023Leu)
c.9208T>C (p.Phe3070Leu)
c.9157T>C (p.Phe3053Leu)
c.9154T>C (p.Phe3052Leu)
1g.21842278A>TCA338915686HSPG2c.9013T>A (p.Phe3005Ile)
c.9016T>A (p.Phe3006Ile)
c.9559T>A (p.Phe3187Ile)
c.9511T>A (p.Phe3171Ile)
c.9490T>A (p.Phe3164Ile)
c.9562T>A (p.Phe3188Ile)
c.9283T>A (p.Phe3095Ile)
c.9067T>A (p.Phe3023Ile)
c.9208T>A (p.Phe3070Ile)
c.9157T>A (p.Phe3053Ile)
c.9154T>A (p.Phe3052Ile)
1g.21842279G>ACA416679281HSPG2c.9012C>T (p.Ser3004=)
c.9015C>T (p.Ser3005=)
c.9558C>T (p.Ser3186=)
c.9510C>T (p.Ser3170=)
c.9489C>T (p.Ser3163=)
c.9561C>T (p.Ser3187=)
c.9282C>T (p.Ser3094=)
c.9066C>T (p.Ser3022=)
c.9207C>T (p.Ser3069=)
c.9156C>T (p.Ser3052=)
c.9153C>T (p.Ser3051=)
 gnomAD v4
1g.21842279G>CCA416679282HSPG2c.9012C>G (p.Ser3004=)
c.9015C>G (p.Ser3005=)
c.9558C>G (p.Ser3186=)
c.9510C>G (p.Ser3170=)
c.9489C>G (p.Ser3163=)
c.9561C>G (p.Ser3187=)
c.9282C>G (p.Ser3094=)
c.9066C>G (p.Ser3022=)
c.9207C>G (p.Ser3069=)
c.9156C>G (p.Ser3052=)
c.9153C>G (p.Ser3051=)
1g.21842279G>TCA416679280HSPG2c.9012C>A (p.Ser3004=)
c.9015C>A (p.Ser3005=)
c.9558C>A (p.Ser3186=)
c.9510C>A (p.Ser3170=)
c.9489C>A (p.Ser3163=)
c.9561C>A (p.Ser3187=)
c.9282C>A (p.Ser3094=)
c.9066C>A (p.Ser3022=)
c.9207C>A (p.Ser3069=)
c.9156C>A (p.Ser3052=)
c.9153C>A (p.Ser3051=)
1g.21842280G>ACA19108347HSPG2c.9011C>T (p.Ser3004Phe)
c.9014C>T (p.Ser3005Phe)
c.9557C>T (p.Ser3186Phe)
c.9509C>T (p.Ser3170Phe)
c.9488C>T (p.Ser3163Phe)
c.9560C>T (p.Ser3187Phe)
c.9281C>T (p.Ser3094Phe)
c.9065C>T (p.Ser3022Phe)
c.9206C>T (p.Ser3069Phe)
c.9155C>T (p.Ser3052Phe)
c.9152C>T (p.Ser3051Phe)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.21842280G>CCA338915687HSPG2c.9011C>G (p.Ser3004Cys)
c.9014C>G (p.Ser3005Cys)
c.9557C>G (p.Ser3186Cys)
c.9509C>G (p.Ser3170Cys)
c.9488C>G (p.Ser3163Cys)
c.9560C>G (p.Ser3187Cys)
c.9281C>G (p.Ser3094Cys)
c.9065C>G (p.Ser3022Cys)
c.9206C>G (p.Ser3069Cys)
c.9155C>G (p.Ser3052Cys)
c.9152C>G (p.Ser3051Cys)
1g.21842280G=CA1158134061HSPG2c.9011C= (p.Ser3004=)
c.9014C= (p.Ser3005=)
c.9557C= (p.Ser3186=)
c.9509C= (p.Ser3170=)
c.9488C= (p.Ser3163=)
c.9560C= (p.Ser3187=)
c.9281C= (p.Ser3094=)
c.9065C= (p.Ser3022=)
c.9206C= (p.Ser3069=)
c.9155C= (p.Ser3052=)
c.9152C= (p.Ser3051=)
1g.21842280G>TCA338915689HSPG2c.9011C>A (p.Ser3004Tyr)
c.9014C>A (p.Ser3005Tyr)
c.9557C>A (p.Ser3186Tyr)
c.9509C>A (p.Ser3170Tyr)
c.9488C>A (p.Ser3163Tyr)
c.9560C>A (p.Ser3187Tyr)
c.9281C>A (p.Ser3094Tyr)
c.9065C>A (p.Ser3022Tyr)
c.9206C>A (p.Ser3069Tyr)
c.9155C>A (p.Ser3052Tyr)
c.9152C>A (p.Ser3051Tyr)
1g.21842281A>CCA338915691HSPG2c.9010T>G (p.Ser3004Ala)
c.9013T>G (p.Ser3005Ala)
c.9556T>G (p.Ser3186Ala)
c.9508T>G (p.Ser3170Ala)
c.9487T>G (p.Ser3163Ala)
c.9559T>G (p.Ser3187Ala)
c.9280T>G (p.Ser3094Ala)
c.9064T>G (p.Ser3022Ala)
c.9205T>G (p.Ser3069Ala)
c.9154T>G (p.Ser3052Ala)
c.9151T>G (p.Ser3051Ala)
1g.21842281A>GCA338915692HSPG2c.9010T>C (p.Ser3004Pro)
c.9013T>C (p.Ser3005Pro)
c.9556T>C (p.Ser3186Pro)
c.9508T>C (p.Ser3170Pro)
c.9487T>C (p.Ser3163Pro)
c.9559T>C (p.Ser3187Pro)
c.9280T>C (p.Ser3094Pro)
c.9064T>C (p.Ser3022Pro)
c.9205T>C (p.Ser3069Pro)
c.9154T>C (p.Ser3052Pro)
c.9151T>C (p.Ser3051Pro)
1g.21842281A>TCA338915693HSPG2c.9010T>A (p.Ser3004Thr)
c.9013T>A (p.Ser3005Thr)
c.9556T>A (p.Ser3186Thr)
c.9508T>A (p.Ser3170Thr)
c.9487T>A (p.Ser3163Thr)
c.9559T>A (p.Ser3187Thr)
c.9280T>A (p.Ser3094Thr)
c.9064T>A (p.Ser3022Thr)
c.9205T>A (p.Ser3069Thr)
c.9154T>A (p.Ser3052Thr)
c.9151T>A (p.Ser3051Thr)
1g.21842282G>ACA670592HSPG2c.9009C>T (p.Ala3003=)
c.9012C>T (p.Ala3004=)
c.9555C>T (p.Ala3185=)
c.9507C>T (p.Ala3169=)
c.9486C>T (p.Ala3162=)
c.9558C>T (p.Ala3186=)
c.9279C>T (p.Ala3093=)
c.9063C>T (p.Ala3021=)
c.9204C>T (p.Ala3068=)
c.9153C>T (p.Ala3051=)
c.9150C>T (p.Ala3050=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21842282G>CCA416679284HSPG2c.9009C>G (p.Ala3003=)
c.9012C>G (p.Ala3004=)
c.9555C>G (p.Ala3185=)
c.9507C>G (p.Ala3169=)
c.9486C>G (p.Ala3162=)
c.9558C>G (p.Ala3186=)
c.9279C>G (p.Ala3093=)
c.9063C>G (p.Ala3021=)
c.9204C>G (p.Ala3068=)
c.9153C>G (p.Ala3051=)
c.9150C>G (p.Ala3050=)
1g.21842282G=CA1158134062HSPG2c.9009C= (p.Ala3003=)
c.9012C= (p.Ala3004=)
c.9555C= (p.Ala3185=)
c.9507C= (p.Ala3169=)
c.9486C= (p.Ala3162=)
c.9558C= (p.Ala3186=)
c.9279C= (p.Ala3093=)
c.9063C= (p.Ala3021=)
c.9204C= (p.Ala3068=)
c.9153C= (p.Ala3051=)
c.9150C= (p.Ala3050=)
1g.21842282G>TCA416679285HSPG2c.9009C>A (p.Ala3003=)
c.9012C>A (p.Ala3004=)
c.9555C>A (p.Ala3185=)
c.9507C>A (p.Ala3169=)
c.9486C>A (p.Ala3162=)
c.9558C>A (p.Ala3186=)
c.9279C>A (p.Ala3093=)
c.9063C>A (p.Ala3021=)
c.9204C>A (p.Ala3068=)
c.9153C>A (p.Ala3051=)
c.9150C>A (p.Ala3050=)
1g.21842283G>ACA338915699HSPG2c.9008C>T (p.Ala3003Val)
c.9011C>T (p.Ala3004Val)
c.9554C>T (p.Ala3185Val)
c.9506C>T (p.Ala3169Val)
c.9485C>T (p.Ala3162Val)
c.9557C>T (p.Ala3186Val)
c.9278C>T (p.Ala3093Val)
c.9062C>T (p.Ala3021Val)
c.9203C>T (p.Ala3068Val)
c.9152C>T (p.Ala3051Val)
c.9149C>T (p.Ala3050Val)
1g.21842283G>CCA338915697HSPG2c.9008C>G (p.Ala3003Gly)
c.9011C>G (p.Ala3004Gly)
c.9554C>G (p.Ala3185Gly)
c.9506C>G (p.Ala3169Gly)
c.9485C>G (p.Ala3162Gly)
c.9557C>G (p.Ala3186Gly)
c.9278C>G (p.Ala3093Gly)
c.9062C>G (p.Ala3021Gly)
c.9203C>G (p.Ala3068Gly)
c.9152C>G (p.Ala3051Gly)
c.9149C>G (p.Ala3050Gly)
1g.21842283G>TCA338915695HSPG2c.9008C>A (p.Ala3003Asp)
c.9011C>A (p.Ala3004Asp)
c.9554C>A (p.Ala3185Asp)
c.9506C>A (p.Ala3169Asp)
c.9485C>A (p.Ala3162Asp)
c.9557C>A (p.Ala3186Asp)
c.9278C>A (p.Ala3093Asp)
c.9062C>A (p.Ala3021Asp)
c.9203C>A (p.Ala3068Asp)
c.9152C>A (p.Ala3051Asp)
c.9149C>A (p.Ala3050Asp)
 gnomAD v4
1g.21842283_21842284delinsGCCA1158134063HSPG2c.9007_9008delinsGC (p.Ala3003=)
c.9010_9011delinsGC (p.Ala3004=)
c.9553_9554delinsGC (p.Ala3185=)
c.9505_9506delinsGC (p.Ala3169=)
c.9484_9485delinsGC (p.Ala3162=)
c.9556_9557delinsGC (p.Ala3186=)
c.9277_9278delinsGC (p.Ala3093=)
c.9061_9062delinsGC (p.Ala3021=)
c.9202_9203delinsGC (p.Ala3068=)
c.9151_9152delinsGC (p.Ala3051=)
c.9148_9149delinsGC (p.Ala3050=)
1g.21842284delCA1158134064HSPG2c.9007del (p.Ala3003ProfsTer?)
c.9010del (p.Ala3004ProfsTer?)
c.9553del (p.Ala3185ProfsTer?)
c.9505del (p.Ala3169ProfsTer?)
c.9484del (p.Ala3162ProfsTer?)
c.9556del (p.Ala3186ProfsTer?)
c.9277del (p.Ala3093ProfsTer?)
c.9061del (p.Ala3021ProfsTer?)
c.9202del (p.Ala3068ProfsTer?)
c.9151del (p.Ala3051ProfsTer?)
c.9148del (p.Ala3050ProfsTer?)
 dbSNP
1g.21842284C>ACA338915700HSPG2c.9007G>T (p.Ala3003Ser)
c.9010G>T (p.Ala3004Ser)
c.9553G>T (p.Ala3185Ser)
c.9505G>T (p.Ala3169Ser)
c.9484G>T (p.Ala3162Ser)
c.9556G>T (p.Ala3186Ser)
c.9277G>T (p.Ala3093Ser)
c.9061G>T (p.Ala3021Ser)
c.9202G>T (p.Ala3068Ser)
c.9151G>T (p.Ala3051Ser)
c.9148G>T (p.Ala3050Ser)
1g.21842284C>GCA338915702HSPG2c.9007G>C (p.Ala3003Pro)
c.9010G>C (p.Ala3004Pro)
c.9553G>C (p.Ala3185Pro)
c.9505G>C (p.Ala3169Pro)
c.9484G>C (p.Ala3162Pro)
c.9556G>C (p.Ala3186Pro)
c.9277G>C (p.Ala3093Pro)
c.9061G>C (p.Ala3021Pro)
c.9202G>C (p.Ala3068Pro)
c.9151G>C (p.Ala3051Pro)
c.9148G>C (p.Ala3050Pro)
1g.21842284C>TCA338915704HSPG2c.9007G>A (p.Ala3003Thr)
c.9010G>A (p.Ala3004Thr)
c.9553G>A (p.Ala3185Thr)
c.9505G>A (p.Ala3169Thr)
c.9484G>A (p.Ala3162Thr)
c.9556G>A (p.Ala3186Thr)
c.9277G>A (p.Ala3093Thr)
c.9061G>A (p.Ala3021Thr)
c.9202G>A (p.Ala3068Thr)
c.9151G>A (p.Ala3051Thr)
c.9148G>A (p.Ala3050Thr)
1g.21842285T>ACA338915705HSPG2c.9006A>T (p.Glu3002Asp)
c.9009A>T (p.Glu3003Asp)
c.9552A>T (p.Glu3184Asp)
c.9504A>T (p.Glu3168Asp)
c.9483A>T (p.Glu3161Asp)
c.9555A>T (p.Glu3185Asp)
c.9276A>T (p.Glu3092Asp)
c.9060A>T (p.Glu3020Asp)
c.9201A>T (p.Glu3067Asp)
c.9150A>T (p.Glu3050Asp)
c.9147A>T (p.Glu3049Asp)
1g.21842285T>CCA416679287HSPG2c.9006A>G (p.Glu3002=)
c.9009A>G (p.Glu3003=)
c.9552A>G (p.Glu3184=)
c.9504A>G (p.Glu3168=)
c.9483A>G (p.Glu3161=)
c.9555A>G (p.Glu3185=)
c.9276A>G (p.Glu3092=)
c.9060A>G (p.Glu3020=)
c.9201A>G (p.Glu3067=)
c.9150A>G (p.Glu3050=)
c.9147A>G (p.Glu3049=)
1g.21842285T>GCA338915706HSPG2c.9006A>C (p.Glu3002Asp)
c.9009A>C (p.Glu3003Asp)
c.9552A>C (p.Glu3184Asp)
c.9504A>C (p.Glu3168Asp)
c.9483A>C (p.Glu3161Asp)
c.9555A>C (p.Glu3185Asp)
c.9276A>C (p.Glu3092Asp)
c.9060A>C (p.Glu3020Asp)
c.9201A>C (p.Glu3067Asp)
c.9150A>C (p.Glu3050Asp)
c.9147A>C (p.Glu3049Asp)
 dbSNP
1g.21842285T=CA1158134065HSPG2c.9006A= (p.Glu3002=)
c.9009A= (p.Glu3003=)
c.9552A= (p.Glu3184=)
c.9504A= (p.Glu3168=)
c.9483A= (p.Glu3161=)
c.9555A= (p.Glu3185=)
c.9276A= (p.Glu3092=)
c.9060A= (p.Glu3020=)
c.9201A= (p.Glu3067=)
c.9150A= (p.Glu3050=)
c.9147A= (p.Glu3049=)
1g.21842286T>ACA338915708HSPG2c.9005A>T (p.Glu3002Val)
c.9008A>T (p.Glu3003Val)
c.9551A>T (p.Glu3184Val)
c.9503A>T (p.Glu3168Val)
c.9482A>T (p.Glu3161Val)
c.9554A>T (p.Glu3185Val)
c.9275A>T (p.Glu3092Val)
c.9059A>T (p.Glu3020Val)
c.9200A>T (p.Glu3067Val)
c.9149A>T (p.Glu3050Val)
c.9146A>T (p.Glu3049Val)
1g.21842286T>CCA338915710HSPG2c.9005A>G (p.Glu3002Gly)
c.9008A>G (p.Glu3003Gly)
c.9551A>G (p.Glu3184Gly)
c.9503A>G (p.Glu3168Gly)
c.9482A>G (p.Glu3161Gly)
c.9554A>G (p.Glu3185Gly)
c.9275A>G (p.Glu3092Gly)
c.9059A>G (p.Glu3020Gly)
c.9200A>G (p.Glu3067Gly)
c.9149A>G (p.Glu3050Gly)
c.9146A>G (p.Glu3049Gly)
1g.21842286T>GCA338915711HSPG2c.9005A>C (p.Glu3002Ala)
c.9008A>C (p.Glu3003Ala)
c.9551A>C (p.Glu3184Ala)
c.9503A>C (p.Glu3168Ala)
c.9482A>C (p.Glu3161Ala)
c.9554A>C (p.Glu3185Ala)
c.9275A>C (p.Glu3092Ala)
c.9059A>C (p.Glu3020Ala)
c.9200A>C (p.Glu3067Ala)
c.9149A>C (p.Glu3050Ala)
c.9146A>C (p.Glu3049Ala)
1g.21842287C>ACA338915713HSPG2c.9004G>T (p.Glu3002Ter)
c.9007G>T (p.Glu3003Ter)
c.9550G>T (p.Glu3184Ter)
c.9502G>T (p.Glu3168Ter)
c.9481G>T (p.Glu3161Ter)
c.9553G>T (p.Glu3185Ter)
c.9274G>T (p.Glu3092Ter)
c.9058G>T (p.Glu3020Ter)
c.9199G>T (p.Glu3067Ter)
c.9148G>T (p.Glu3050Ter)
c.9145G>T (p.Glu3049Ter)
1g.21842287C>GCA338915714HSPG2c.9004G>C (p.Glu3002Gln)
c.9007G>C (p.Glu3003Gln)
c.9550G>C (p.Glu3184Gln)
c.9502G>C (p.Glu3168Gln)
c.9481G>C (p.Glu3161Gln)
c.9553G>C (p.Glu3185Gln)
c.9274G>C (p.Glu3092Gln)
c.9058G>C (p.Glu3020Gln)
c.9199G>C (p.Glu3067Gln)
c.9148G>C (p.Glu3050Gln)
c.9145G>C (p.Glu3049Gln)
1g.21842287C>TCA338915716HSPG2c.9004G>A (p.Glu3002Lys)
c.9007G>A (p.Glu3003Lys)
c.9550G>A (p.Glu3184Lys)
c.9502G>A (p.Glu3168Lys)
c.9481G>A (p.Glu3161Lys)
c.9553G>A (p.Glu3185Lys)
c.9274G>A (p.Glu3092Lys)
c.9058G>A (p.Glu3020Lys)
c.9199G>A (p.Glu3067Lys)
c.9148G>A (p.Glu3050Lys)
c.9145G>A (p.Glu3049Lys)
1g.21842288T>ACA338915717HSPG2c.9003A>T (p.Gln3001His)
c.9006A>T (p.Gln3002His)
c.9549A>T (p.Gln3183His)
c.9501A>T (p.Gln3167His)
c.9480A>T (p.Gln3160His)
c.9552A>T (p.Gln3184His)
c.9273A>T (p.Gln3091His)
c.9057A>T (p.Gln3019His)
c.9198A>T (p.Gln3066His)
c.9147A>T (p.Gln3049His)
c.9144A>T (p.Gln3048His)
1g.21842288T>CCA416679289HSPG2c.9003A>G (p.Gln3001=)
c.9006A>G (p.Gln3002=)
c.9549A>G (p.Gln3183=)
c.9501A>G (p.Gln3167=)
c.9480A>G (p.Gln3160=)
c.9552A>G (p.Gln3184=)
c.9273A>G (p.Gln3091=)
c.9057A>G (p.Gln3019=)
c.9198A>G (p.Gln3066=)
c.9147A>G (p.Gln3049=)
c.9144A>G (p.Gln3048=)
1g.21842288T>GCA338915719HSPG2c.9003A>C (p.Gln3001His)
c.9006A>C (p.Gln3002His)
c.9549A>C (p.Gln3183His)
c.9501A>C (p.Gln3167His)
c.9480A>C (p.Gln3160His)
c.9552A>C (p.Gln3184His)
c.9273A>C (p.Gln3091His)
c.9057A>C (p.Gln3019His)
c.9198A>C (p.Gln3066His)
c.9147A>C (p.Gln3049His)
c.9144A>C (p.Gln3048His)
1g.21842289T>ACA338915722HSPG2c.9002A>T (p.Gln3001Leu)
c.9005A>T (p.Gln3002Leu)
c.9548A>T (p.Gln3183Leu)
c.9500A>T (p.Gln3167Leu)
c.9479A>T (p.Gln3160Leu)
c.9551A>T (p.Gln3184Leu)
c.9272A>T (p.Gln3091Leu)
c.9056A>T (p.Gln3019Leu)
c.9197A>T (p.Gln3066Leu)
c.9146A>T (p.Gln3049Leu)
c.9143A>T (p.Gln3048Leu)
1g.21842289T>CCA338915724HSPG2c.9002A>G (p.Gln3001Arg)
c.9005A>G (p.Gln3002Arg)
c.9548A>G (p.Gln3183Arg)
c.9500A>G (p.Gln3167Arg)
c.9479A>G (p.Gln3160Arg)
c.9551A>G (p.Gln3184Arg)
c.9272A>G (p.Gln3091Arg)
c.9056A>G (p.Gln3019Arg)
c.9197A>G (p.Gln3066Arg)
c.9146A>G (p.Gln3049Arg)
c.9143A>G (p.Gln3048Arg)
1g.21842289T>GCA338915721HSPG2c.9002A>C (p.Gln3001Pro)
c.9005A>C (p.Gln3002Pro)
c.9548A>C (p.Gln3183Pro)
c.9500A>C (p.Gln3167Pro)
c.9479A>C (p.Gln3160Pro)
c.9551A>C (p.Gln3184Pro)
c.9272A>C (p.Gln3091Pro)
c.9056A>C (p.Gln3019Pro)
c.9197A>C (p.Gln3066Pro)
c.9146A>C (p.Gln3049Pro)
c.9143A>C (p.Gln3048Pro)
1g.21842290G>ACA338915726HSPG2c.9001C>T (p.Gln3001Ter)
c.9004C>T (p.Gln3002Ter)
c.9547C>T (p.Gln3183Ter)
c.9499C>T (p.Gln3167Ter)
c.9478C>T (p.Gln3160Ter)
c.9550C>T (p.Gln3184Ter)
c.9271C>T (p.Gln3091Ter)
c.9055C>T (p.Gln3019Ter)
c.9196C>T (p.Gln3066Ter)
c.9145C>T (p.Gln3049Ter)
c.9142C>T (p.Gln3048Ter)
1g.21842290G>CCA338915729HSPG2c.9001C>G (p.Gln3001Glu)
c.9004C>G (p.Gln3002Glu)
c.9547C>G (p.Gln3183Glu)
c.9499C>G (p.Gln3167Glu)
c.9478C>G (p.Gln3160Glu)
c.9550C>G (p.Gln3184Glu)
c.9271C>G (p.Gln3091Glu)
c.9055C>G (p.Gln3019Glu)
c.9196C>G (p.Gln3066Glu)
c.9145C>G (p.Gln3049Glu)
c.9142C>G (p.Gln3048Glu)
1g.21842290G>TCA338915727HSPG2c.9001C>A (p.Gln3001Lys)
c.9004C>A (p.Gln3002Lys)
c.9547C>A (p.Gln3183Lys)
c.9499C>A (p.Gln3167Lys)
c.9478C>A (p.Gln3160Lys)
c.9550C>A (p.Gln3184Lys)
c.9271C>A (p.Gln3091Lys)
c.9055C>A (p.Gln3019Lys)
c.9196C>A (p.Gln3066Lys)
c.9145C>A (p.Gln3049Lys)
c.9142C>A (p.Gln3048Lys)
1g.21842291C>ACA338915730HSPG2c.9000G>T (p.Glu3000Asp)
c.9003G>T (p.Glu3001Asp)
c.9546G>T (p.Glu3182Asp)
c.9498G>T (p.Glu3166Asp)
c.9477G>T (p.Glu3159Asp)
c.9549G>T (p.Glu3183Asp)
c.9270G>T (p.Glu3090Asp)
c.9054G>T (p.Glu3018Asp)
c.9195G>T (p.Glu3065Asp)
c.9144G>T (p.Glu3048Asp)
c.9141G>T (p.Glu3047Asp)
1g.21842291C>GCA338915732HSPG2c.9000G>C (p.Glu3000Asp)
c.9003G>C (p.Glu3001Asp)
c.9546G>C (p.Glu3182Asp)
c.9498G>C (p.Glu3166Asp)
c.9477G>C (p.Glu3159Asp)
c.9549G>C (p.Glu3183Asp)
c.9270G>C (p.Glu3090Asp)
c.9054G>C (p.Glu3018Asp)
c.9195G>C (p.Glu3065Asp)
c.9144G>C (p.Glu3048Asp)
c.9141G>C (p.Glu3047Asp)
1g.21842291C>TCA416679293HSPG2c.9000G>A (p.Glu3000=)
c.9003G>A (p.Glu3001=)
c.9546G>A (p.Glu3182=)
c.9498G>A (p.Glu3166=)
c.9477G>A (p.Glu3159=)
c.9549G>A (p.Glu3183=)
c.9270G>A (p.Glu3090=)
c.9054G>A (p.Glu3018=)
c.9195G>A (p.Glu3065=)
c.9144G>A (p.Glu3048=)
c.9141G>A (p.Glu3047=)
 gnomAD v4
1g.21842292T>ACA338915733HSPG2c.8999A>T (p.Glu3000Val)
c.9002A>T (p.Glu3001Val)
c.9545A>T (p.Glu3182Val)
c.9497A>T (p.Glu3166Val)
c.9476A>T (p.Glu3159Val)
c.9548A>T (p.Glu3183Val)
c.9269A>T (p.Glu3090Val)
c.9053A>T (p.Glu3018Val)
c.9194A>T (p.Glu3065Val)
c.9143A>T (p.Glu3048Val)
c.9140A>T (p.Glu3047Val)
1g.21842292T>CCA338915735HSPG2c.8999A>G (p.Glu3000Gly)
c.9002A>G (p.Glu3001Gly)
c.9545A>G (p.Glu3182Gly)
c.9497A>G (p.Glu3166Gly)
c.9476A>G (p.Glu3159Gly)
c.9548A>G (p.Glu3183Gly)
c.9269A>G (p.Glu3090Gly)
c.9053A>G (p.Glu3018Gly)
c.9194A>G (p.Glu3065Gly)
c.9143A>G (p.Glu3048Gly)
c.9140A>G (p.Glu3047Gly)
1g.21842292T>GCA338915736HSPG2c.8999A>C (p.Glu3000Ala)
c.9002A>C (p.Glu3001Ala)
c.9545A>C (p.Glu3182Ala)
c.9497A>C (p.Glu3166Ala)
c.9476A>C (p.Glu3159Ala)
c.9548A>C (p.Glu3183Ala)
c.9269A>C (p.Glu3090Ala)
c.9053A>C (p.Glu3018Ala)
c.9194A>C (p.Glu3065Ala)
c.9143A>C (p.Glu3048Ala)
c.9140A>C (p.Glu3047Ala)
1g.21842293C>ACA338915738HSPG2c.8998G>T (p.Glu3000Ter)
c.9001G>T (p.Glu3001Ter)
c.9544G>T (p.Glu3182Ter)
c.9496G>T (p.Glu3166Ter)
c.9475G>T (p.Glu3159Ter)
c.9547G>T (p.Glu3183Ter)
c.9268G>T (p.Glu3090Ter)
c.9052G>T (p.Glu3018Ter)
c.9193G>T (p.Glu3065Ter)
c.9142G>T (p.Glu3048Ter)
c.9139G>T (p.Glu3047Ter)
1g.21842293C>GCA338915739HSPG2c.8998G>C (p.Glu3000Gln)
c.9001G>C (p.Glu3001Gln)
c.9544G>C (p.Glu3182Gln)
c.9496G>C (p.Glu3166Gln)
c.9475G>C (p.Glu3159Gln)
c.9547G>C (p.Glu3183Gln)
c.9268G>C (p.Glu3090Gln)
c.9052G>C (p.Glu3018Gln)
c.9193G>C (p.Glu3065Gln)
c.9142G>C (p.Glu3048Gln)
c.9139G>C (p.Glu3047Gln)
1g.21842293C>TCA338915741HSPG2c.8998G>A (p.Glu3000Lys)
c.9001G>A (p.Glu3001Lys)
c.9544G>A (p.Glu3182Lys)
c.9496G>A (p.Glu3166Lys)
c.9475G>A (p.Glu3159Lys)
c.9547G>A (p.Glu3183Lys)
c.9268G>A (p.Glu3090Lys)
c.9052G>A (p.Glu3018Lys)
c.9193G>A (p.Glu3065Lys)
c.9142G>A (p.Glu3048Lys)
c.9139G>A (p.Glu3047Lys)
1g.21842294A=CA1158134066HSPG2c.8997T= (p.Pro2999=)
c.9000T= (p.Pro3000=)
c.9543T= (p.Pro3181=)
c.9495T= (p.Pro3165=)
c.9474T= (p.Pro3158=)
c.9546T= (p.Pro3182=)
c.9267T= (p.Pro3089=)
c.9051T= (p.Pro3017=)
c.9192T= (p.Pro3064=)
c.9141T= (p.Pro3047=)
c.9138T= (p.Pro3046=)
1g.21842294A>CCA416679297HSPG2c.8997T>G (p.Pro2999=)
c.9000T>G (p.Pro3000=)
c.9543T>G (p.Pro3181=)
c.9495T>G (p.Pro3165=)
c.9474T>G (p.Pro3158=)
c.9546T>G (p.Pro3182=)
c.9267T>G (p.Pro3089=)
c.9051T>G (p.Pro3017=)
c.9192T>G (p.Pro3064=)
c.9141T>G (p.Pro3047=)
c.9138T>G (p.Pro3046=)
1g.21842294A>GCA416679296HSPG2c.8997T>C (p.Pro2999=)
c.9000T>C (p.Pro3000=)
c.9543T>C (p.Pro3181=)
c.9495T>C (p.Pro3165=)
c.9474T>C (p.Pro3158=)
c.9546T>C (p.Pro3182=)
c.9267T>C (p.Pro3089=)
c.9051T>C (p.Pro3017=)
c.9192T>C (p.Pro3064=)
c.9141T>C (p.Pro3047=)
c.9138T>C (p.Pro3046=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21842294A>TCA416679298HSPG2c.8997T>A (p.Pro2999=)
c.9000T>A (p.Pro3000=)
c.9543T>A (p.Pro3181=)
c.9495T>A (p.Pro3165=)
c.9474T>A (p.Pro3158=)
c.9546T>A (p.Pro3182=)
c.9267T>A (p.Pro3089=)
c.9051T>A (p.Pro3017=)
c.9192T>A (p.Pro3064=)
c.9141T>A (p.Pro3047=)
c.9138T>A (p.Pro3046=)
1g.21842295G>ACA338915743HSPG2c.8996C>T (p.Pro2999Leu)
c.8999C>T (p.Pro3000Leu)
c.9542C>T (p.Pro3181Leu)
c.9494C>T (p.Pro3165Leu)
c.9473C>T (p.Pro3158Leu)
c.9545C>T (p.Pro3182Leu)
c.9266C>T (p.Pro3089Leu)
c.9050C>T (p.Pro3017Leu)
c.9191C>T (p.Pro3064Leu)
c.9140C>T (p.Pro3047Leu)
c.9137C>T (p.Pro3046Leu)
1g.21842295G>CCA338915744HSPG2c.8996C>G (p.Pro2999Arg)
c.8999C>G (p.Pro3000Arg)
c.9542C>G (p.Pro3181Arg)
c.9494C>G (p.Pro3165Arg)
c.9473C>G (p.Pro3158Arg)
c.9545C>G (p.Pro3182Arg)
c.9266C>G (p.Pro3089Arg)
c.9050C>G (p.Pro3017Arg)
c.9191C>G (p.Pro3064Arg)
c.9140C>G (p.Pro3047Arg)
c.9137C>G (p.Pro3046Arg)
1g.21842295G>TCA338915746HSPG2c.8996C>A (p.Pro2999His)
c.8999C>A (p.Pro3000His)
c.9542C>A (p.Pro3181His)
c.9494C>A (p.Pro3165His)
c.9473C>A (p.Pro3158His)
c.9545C>A (p.Pro3182His)
c.9266C>A (p.Pro3089His)
c.9050C>A (p.Pro3017His)
c.9191C>A (p.Pro3064His)
c.9140C>A (p.Pro3047His)
c.9137C>A (p.Pro3046His)
1g.21842296G>ACA338915751HSPG2c.8995C>T (p.Pro2999Ser)
c.8998C>T (p.Pro3000Ser)
c.9541C>T (p.Pro3181Ser)
c.9493C>T (p.Pro3165Ser)
c.9472C>T (p.Pro3158Ser)
c.9544C>T (p.Pro3182Ser)
c.9265C>T (p.Pro3089Ser)
c.9049C>T (p.Pro3017Ser)
c.9190C>T (p.Pro3064Ser)
c.9139C>T (p.Pro3047Ser)
c.9136C>T (p.Pro3046Ser)
1g.21842296G>CCA338915749HSPG2c.8995C>G (p.Pro2999Ala)
c.8998C>G (p.Pro3000Ala)
c.9541C>G (p.Pro3181Ala)
c.9493C>G (p.Pro3165Ala)
c.9472C>G (p.Pro3158Ala)
c.9544C>G (p.Pro3182Ala)
c.9265C>G (p.Pro3089Ala)
c.9049C>G (p.Pro3017Ala)
c.9190C>G (p.Pro3064Ala)
c.9139C>G (p.Pro3047Ala)
c.9136C>G (p.Pro3046Ala)
1g.21842296G>TCA338915747HSPG2c.8995C>A (p.Pro2999Thr)
c.8998C>A (p.Pro3000Thr)
c.9541C>A (p.Pro3181Thr)
c.9493C>A (p.Pro3165Thr)
c.9472C>A (p.Pro3158Thr)
c.9544C>A (p.Pro3182Thr)
c.9265C>A (p.Pro3089Thr)
c.9049C>A (p.Pro3017Thr)
c.9190C>A (p.Pro3064Thr)
c.9139C>A (p.Pro3047Thr)
c.9136C>A (p.Pro3046Thr)
1g.21842297G>ACA416679301HSPG2c.8994C>T (p.Gly2998=)
c.8997C>T (p.Gly2999=)
c.9540C>T (p.Gly3180=)
c.9492C>T (p.Gly3164=)
c.9471C>T (p.Gly3157=)
c.9543C>T (p.Gly3181=)
c.9264C>T (p.Gly3088=)
c.9048C>T (p.Gly3016=)
c.9189C>T (p.Gly3063=)
c.9138C>T (p.Gly3046=)
c.9135C>T (p.Gly3045=)
 gnomAD v4
1g.21842297G>CCA416679302HSPG2c.8994C>G (p.Gly2998=)
c.8997C>G (p.Gly2999=)
c.9540C>G (p.Gly3180=)
c.9492C>G (p.Gly3164=)
c.9471C>G (p.Gly3157=)
c.9543C>G (p.Gly3181=)
c.9264C>G (p.Gly3088=)
c.9048C>G (p.Gly3016=)
c.9189C>G (p.Gly3063=)
c.9138C>G (p.Gly3046=)
c.9135C>G (p.Gly3045=)
1g.21842297G>TCA416679303HSPG2c.8994C>A (p.Gly2998=)
c.8997C>A (p.Gly2999=)
c.9540C>A (p.Gly3180=)
c.9492C>A (p.Gly3164=)
c.9471C>A (p.Gly3157=)
c.9543C>A (p.Gly3181=)
c.9264C>A (p.Gly3088=)
c.9048C>A (p.Gly3016=)
c.9189C>A (p.Gly3063=)
c.9138C>A (p.Gly3046=)
c.9135C>A (p.Gly3045=)
1g.21842298C>ACA338915752HSPG2c.8993G>T (p.Gly2998Val)
c.8996G>T (p.Gly2999Val)
c.9539G>T (p.Gly3180Val)
c.9491G>T (p.Gly3164Val)
c.9470G>T (p.Gly3157Val)
c.9542G>T (p.Gly3181Val)
c.9263G>T (p.Gly3088Val)
c.9047G>T (p.Gly3016Val)
c.9188G>T (p.Gly3063Val)
c.9137G>T (p.Gly3046Val)
c.9134G>T (p.Gly3045Val)
1g.21842298C>GCA338915753HSPG2c.8993G>C (p.Gly2998Ala)
c.8996G>C (p.Gly2999Ala)
c.9539G>C (p.Gly3180Ala)
c.9491G>C (p.Gly3164Ala)
c.9470G>C (p.Gly3157Ala)
c.9542G>C (p.Gly3181Ala)
c.9263G>C (p.Gly3088Ala)
c.9047G>C (p.Gly3016Ala)
c.9188G>C (p.Gly3063Ala)
c.9137G>C (p.Gly3046Ala)
c.9134G>C (p.Gly3045Ala)
1g.21842298C>TCA338915755HSPG2c.8993G>A (p.Gly2998Asp)
c.8996G>A (p.Gly2999Asp)
c.9539G>A (p.Gly3180Asp)
c.9491G>A (p.Gly3164Asp)
c.9470G>A (p.Gly3157Asp)
c.9542G>A (p.Gly3181Asp)
c.9263G>A (p.Gly3088Asp)
c.9047G>A (p.Gly3016Asp)
c.9188G>A (p.Gly3063Asp)
c.9137G>A (p.Gly3046Asp)
c.9134G>A (p.Gly3045Asp)
1g.21842299C>ACA338915757HSPG2c.8992G>T (p.Gly2998Cys)
c.8995G>T (p.Gly2999Cys)
c.9538G>T (p.Gly3180Cys)
c.9490G>T (p.Gly3164Cys)
c.9469G>T (p.Gly3157Cys)
c.9541G>T (p.Gly3181Cys)
c.9262G>T (p.Gly3088Cys)
c.9046G>T (p.Gly3016Cys)
c.9187G>T (p.Gly3063Cys)
c.9136G>T (p.Gly3046Cys)
c.9133G>T (p.Gly3045Cys)
1g.21842299C>GCA338915758HSPG2c.8992G>C (p.Gly2998Arg)
c.8995G>C (p.Gly2999Arg)
c.9538G>C (p.Gly3180Arg)
c.9490G>C (p.Gly3164Arg)
c.9469G>C (p.Gly3157Arg)
c.9541G>C (p.Gly3181Arg)
c.9262G>C (p.Gly3088Arg)
c.9046G>C (p.Gly3016Arg)
c.9187G>C (p.Gly3063Arg)
c.9136G>C (p.Gly3046Arg)
c.9133G>C (p.Gly3045Arg)
1g.21842299C>TCA338915759HSPG2c.8992G>A (p.Gly2998Ser)
c.8995G>A (p.Gly2999Ser)
c.9538G>A (p.Gly3180Ser)
c.9490G>A (p.Gly3164Ser)
c.9469G>A (p.Gly3157Ser)
c.9541G>A (p.Gly3181Ser)
c.9262G>A (p.Gly3088Ser)
c.9046G>A (p.Gly3016Ser)
c.9187G>A (p.Gly3063Ser)
c.9136G>A (p.Gly3046Ser)
c.9133G>A (p.Gly3045Ser)
1g.21842300T>ACA416679310HSPG2c.8991A>T (p.Pro2997=)
c.8994A>T (p.Pro2998=)
c.9537A>T (p.Pro3179=)
c.9489A>T (p.Pro3163=)
c.9468A>T (p.Pro3156=)
c.9540A>T (p.Pro3180=)
c.9261A>T (p.Pro3087=)
c.9045A>T (p.Pro3015=)
c.9186A>T (p.Pro3062=)
c.9135A>T (p.Pro3045=)
c.9132A>T (p.Pro3044=)
1g.21842300T>CCA416679311HSPG2c.8991A>G (p.Pro2997=)
c.8994A>G (p.Pro2998=)
c.9537A>G (p.Pro3179=)
c.9489A>G (p.Pro3163=)
c.9468A>G (p.Pro3156=)
c.9540A>G (p.Pro3180=)
c.9261A>G (p.Pro3087=)
c.9045A>G (p.Pro3015=)
c.9186A>G (p.Pro3062=)
c.9135A>G (p.Pro3045=)
c.9132A>G (p.Pro3044=)
1g.21842300T>GCA416679312HSPG2c.8991A>C (p.Pro2997=)
c.8994A>C (p.Pro2998=)
c.9537A>C (p.Pro3179=)
c.9489A>C (p.Pro3163=)
c.9468A>C (p.Pro3156=)
c.9540A>C (p.Pro3180=)
c.9261A>C (p.Pro3087=)
c.9045A>C (p.Pro3015=)
c.9186A>C (p.Pro3062=)
c.9135A>C (p.Pro3045=)
c.9132A>C (p.Pro3044=)
1g.21842301G>ACA338915760HSPG2c.8990C>T (p.Pro2997Leu)
c.8993C>T (p.Pro2998Leu)
c.9536C>T (p.Pro3179Leu)
c.9488C>T (p.Pro3163Leu)
c.9467C>T (p.Pro3156Leu)
c.9539C>T (p.Pro3180Leu)
c.9260C>T (p.Pro3087Leu)
c.9044C>T (p.Pro3015Leu)
c.9185C>T (p.Pro3062Leu)
c.9134C>T (p.Pro3045Leu)
c.9131C>T (p.Pro3044Leu)
1g.21842301G>CCA338915761HSPG2c.8990C>G (p.Pro2997Arg)
c.8993C>G (p.Pro2998Arg)
c.9536C>G (p.Pro3179Arg)
c.9488C>G (p.Pro3163Arg)
c.9467C>G (p.Pro3156Arg)
c.9539C>G (p.Pro3180Arg)
c.9260C>G (p.Pro3087Arg)
c.9044C>G (p.Pro3015Arg)
c.9185C>G (p.Pro3062Arg)
c.9134C>G (p.Pro3045Arg)
c.9131C>G (p.Pro3044Arg)
1g.21842301G>TCA338915762HSPG2c.8990C>A (p.Pro2997Gln)
c.8993C>A (p.Pro2998Gln)
c.9536C>A (p.Pro3179Gln)
c.9488C>A (p.Pro3163Gln)
c.9467C>A (p.Pro3156Gln)
c.9539C>A (p.Pro3180Gln)
c.9260C>A (p.Pro3087Gln)
c.9044C>A (p.Pro3015Gln)
c.9185C>A (p.Pro3062Gln)
c.9134C>A (p.Pro3045Gln)
c.9131C>A (p.Pro3044Gln)
1g.21842302G>ACA338915764HSPG2c.8989C>T (p.Pro2997Ser)
c.8992C>T (p.Pro2998Ser)
c.9535C>T (p.Pro3179Ser)
c.9487C>T (p.Pro3163Ser)
c.9466C>T (p.Pro3156Ser)
c.9538C>T (p.Pro3180Ser)
c.9259C>T (p.Pro3087Ser)
c.9043C>T (p.Pro3015Ser)
c.9184C>T (p.Pro3062Ser)
c.9133C>T (p.Pro3045Ser)
c.9130C>T (p.Pro3044Ser)
1g.21842302G>CCA338915765HSPG2c.8989C>G (p.Pro2997Ala)
c.8992C>G (p.Pro2998Ala)
c.9535C>G (p.Pro3179Ala)
c.9487C>G (p.Pro3163Ala)
c.9466C>G (p.Pro3156Ala)
c.9538C>G (p.Pro3180Ala)
c.9259C>G (p.Pro3087Ala)
c.9043C>G (p.Pro3015Ala)
c.9184C>G (p.Pro3062Ala)
c.9133C>G (p.Pro3045Ala)
c.9130C>G (p.Pro3044Ala)
1g.21842302G>TCA338915767HSPG2c.8989C>A (p.Pro2997Thr)
c.8992C>A (p.Pro2998Thr)
c.9535C>A (p.Pro3179Thr)
c.9487C>A (p.Pro3163Thr)
c.9466C>A (p.Pro3156Thr)
c.9538C>A (p.Pro3180Thr)
c.9259C>A (p.Pro3087Thr)
c.9043C>A (p.Pro3015Thr)
c.9184C>A (p.Pro3062Thr)
c.9133C>A (p.Pro3045Thr)
c.9130C>A (p.Pro3044Thr)
1g.21842303G>ACA416679321HSPG2c.8988C>T (p.Gly2996=)
c.8991C>T (p.Gly2997=)
c.9534C>T (p.Gly3178=)
c.9486C>T (p.Gly3162=)
c.9465C>T (p.Gly3155=)
c.9537C>T (p.Gly3179=)
c.9258C>T (p.Gly3086=)
c.9042C>T (p.Gly3014=)
c.9183C>T (p.Gly3061=)
c.9132C>T (p.Gly3044=)
c.9129C>T (p.Gly3043=)
 COSMIC
1g.21842303G>CCA416679319HSPG2c.8988C>G (p.Gly2996=)
c.8991C>G (p.Gly2997=)
c.9534C>G (p.Gly3178=)
c.9486C>G (p.Gly3162=)
c.9465C>G (p.Gly3155=)
c.9537C>G (p.Gly3179=)
c.9258C>G (p.Gly3086=)
c.9042C>G (p.Gly3014=)
c.9183C>G (p.Gly3061=)
c.9132C>G (p.Gly3044=)
c.9129C>G (p.Gly3043=)
1g.21842303G>TCA416679320HSPG2c.8988C>A (p.Gly2996=)
c.8991C>A (p.Gly2997=)
c.9534C>A (p.Gly3178=)
c.9486C>A (p.Gly3162=)
c.9465C>A (p.Gly3155=)
c.9537C>A (p.Gly3179=)
c.9258C>A (p.Gly3086=)
c.9042C>A (p.Gly3014=)
c.9183C>A (p.Gly3061=)
c.9132C>A (p.Gly3044=)
c.9129C>A (p.Gly3043=)
1g.21842304C>ACA338915771HSPG2c.8987G>T (p.Gly2996Val)
c.8990G>T (p.Gly2997Val)
c.9533G>T (p.Gly3178Val)
c.9485G>T (p.Gly3162Val)
c.9464G>T (p.Gly3155Val)
c.9536G>T (p.Gly3179Val)
c.9257G>T (p.Gly3086Val)
c.9041G>T (p.Gly3014Val)
c.9182G>T (p.Gly3061Val)
c.9131G>T (p.Gly3044Val)
c.9128G>T (p.Gly3043Val)
 dbSNP
1g.21842304C=CA1158134067HSPG2c.8987G= (p.Gly2996=)
c.8990G= (p.Gly2997=)
c.9533G= (p.Gly3178=)
c.9485G= (p.Gly3162=)
c.9464G= (p.Gly3155=)
c.9536G= (p.Gly3179=)
c.9257G= (p.Gly3086=)
c.9041G= (p.Gly3014=)
c.9182G= (p.Gly3061=)
c.9131G= (p.Gly3044=)
c.9128G= (p.Gly3043=)
1g.21842304C>GCA338915769HSPG2c.8987G>C (p.Gly2996Ala)
c.8990G>C (p.Gly2997Ala)
c.9533G>C (p.Gly3178Ala)
c.9485G>C (p.Gly3162Ala)
c.9464G>C (p.Gly3155Ala)
c.9536G>C (p.Gly3179Ala)
c.9257G>C (p.Gly3086Ala)
c.9041G>C (p.Gly3014Ala)
c.9182G>C (p.Gly3061Ala)
c.9131G>C (p.Gly3044Ala)
c.9128G>C (p.Gly3043Ala)
1g.21842304C>TCA338915768HSPG2c.8987G>A (p.Gly2996Asp)
c.8990G>A (p.Gly2997Asp)
c.9533G>A (p.Gly3178Asp)
c.9485G>A (p.Gly3162Asp)
c.9464G>A (p.Gly3155Asp)
c.9536G>A (p.Gly3179Asp)
c.9257G>A (p.Gly3086Asp)
c.9041G>A (p.Gly3014Asp)
c.9182G>A (p.Gly3061Asp)
c.9131G>A (p.Gly3044Asp)
c.9128G>A (p.Gly3043Asp)
 dbSNP gnomAD v2
1g.21842305C>ACA338915773HSPG2c.8986G>T (p.Gly2996Cys)
c.8989G>T (p.Gly2997Cys)
c.9532G>T (p.Gly3178Cys)
c.9484G>T (p.Gly3162Cys)
c.9463G>T (p.Gly3155Cys)
c.9535G>T (p.Gly3179Cys)
c.9256G>T (p.Gly3086Cys)
c.9040G>T (p.Gly3014Cys)
c.9181G>T (p.Gly3061Cys)
c.9130G>T (p.Gly3044Cys)
c.9127G>T (p.Gly3043Cys)
1g.21842305C=CA1158134068HSPG2c.8986G= (p.Gly2996=)
c.8989G= (p.Gly2997=)
c.9532G= (p.Gly3178=)
c.9484G= (p.Gly3162=)
c.9463G= (p.Gly3155=)
c.9535G= (p.Gly3179=)
c.9256G= (p.Gly3086=)
c.9040G= (p.Gly3014=)
c.9181G= (p.Gly3061=)
c.9130G= (p.Gly3044=)
c.9127G= (p.Gly3043=)
1g.21842305C>GCA338915775HSPG2c.8986G>C (p.Gly2996Arg)
c.8989G>C (p.Gly2997Arg)
c.9532G>C (p.Gly3178Arg)
c.9484G>C (p.Gly3162Arg)
c.9463G>C (p.Gly3155Arg)
c.9535G>C (p.Gly3179Arg)
c.9256G>C (p.Gly3086Arg)
c.9040G>C (p.Gly3014Arg)
c.9181G>C (p.Gly3061Arg)
c.9130G>C (p.Gly3044Arg)
c.9127G>C (p.Gly3043Arg)
 gnomAD v4
1g.21842305C>TCA338915776HSPG2c.8986G>A (p.Gly2996Ser)
c.8989G>A (p.Gly2997Ser)
c.9532G>A (p.Gly3178Ser)
c.9484G>A (p.Gly3162Ser)
c.9463G>A (p.Gly3155Ser)
c.9535G>A (p.Gly3179Ser)
c.9256G>A (p.Gly3086Ser)
c.9040G>A (p.Gly3014Ser)
c.9181G>A (p.Gly3061Ser)
c.9130G>A (p.Gly3044Ser)
c.9127G>A (p.Gly3043Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.21842306G>ACA670593HSPG2c.8985C>T (p.Ser2995=)
c.8988C>T (p.Ser2996=)
c.9531C>T (p.Ser3177=)
c.9483C>T (p.Ser3161=)
c.9462C>T (p.Ser3154=)
c.9534C>T (p.Ser3178=)
c.9255C>T (p.Ser3085=)
c.9039C>T (p.Ser3013=)
c.9180C>T (p.Ser3060=)
c.9129C>T (p.Ser3043=)
c.9126C>T (p.Ser3042=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21842306G>CCA338915778HSPG2c.8985C>G (p.Ser2995Arg)
c.8988C>G (p.Ser2996Arg)
c.9531C>G (p.Ser3177Arg)
c.9483C>G (p.Ser3161Arg)
c.9462C>G (p.Ser3154Arg)
c.9534C>G (p.Ser3178Arg)
c.9255C>G (p.Ser3085Arg)
c.9039C>G (p.Ser3013Arg)
c.9180C>G (p.Ser3060Arg)
c.9129C>G (p.Ser3043Arg)
c.9126C>G (p.Ser3042Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.21842306G=CA1146902308HSPG2c.8985C= (p.Ser2995=)
c.8988C= (p.Ser2996=)
c.9531C= (p.Ser3177=)
c.9483C= (p.Ser3161=)
c.9462C= (p.Ser3154=)
c.9534C= (p.Ser3178=)
c.9255C= (p.Ser3085=)
c.9039C= (p.Ser3013=)
c.9180C= (p.Ser3060=)
c.9129C= (p.Ser3043=)
c.9126C= (p.Ser3042=)
1g.21842306G>TCA338915780HSPG2c.8985C>A (p.Ser2995Arg)
c.8988C>A (p.Ser2996Arg)
c.9531C>A (p.Ser3177Arg)
c.9483C>A (p.Ser3161Arg)
c.9462C>A (p.Ser3154Arg)
c.9534C>A (p.Ser3178Arg)
c.9255C>A (p.Ser3085Arg)
c.9039C>A (p.Ser3013Arg)
c.9180C>A (p.Ser3060Arg)
c.9129C>A (p.Ser3043Arg)
c.9126C>A (p.Ser3042Arg)
1g.21842307C>ACA338915782HSPG2c.8984G>T (p.Ser2995Ile)
c.8987G>T (p.Ser2996Ile)
c.9530G>T (p.Ser3177Ile)
c.9482G>T (p.Ser3161Ile)
c.9461G>T (p.Ser3154Ile)
c.9533G>T (p.Ser3178Ile)
c.9254G>T (p.Ser3085Ile)
c.9038G>T (p.Ser3013Ile)
c.9179G>T (p.Ser3060Ile)
c.9128G>T (p.Ser3043Ile)
c.9125G>T (p.Ser3042Ile)
1g.21842307C=CA1158134069HSPG2c.8984G= (p.Ser2995=)
c.8987G= (p.Ser2996=)
c.9530G= (p.Ser3177=)
c.9482G= (p.Ser3161=)
c.9461G= (p.Ser3154=)
c.9533G= (p.Ser3178=)
c.9254G= (p.Ser3085=)
c.9038G= (p.Ser3013=)
c.9179G= (p.Ser3060=)
c.9128G= (p.Ser3043=)
c.9125G= (p.Ser3042=)
1g.21842307C>GCA338915783HSPG2c.8984G>C (p.Ser2995Thr)
c.8987G>C (p.Ser2996Thr)
c.9530G>C (p.Ser3177Thr)
c.9482G>C (p.Ser3161Thr)
c.9461G>C (p.Ser3154Thr)
c.9533G>C (p.Ser3178Thr)
c.9254G>C (p.Ser3085Thr)
c.9038G>C (p.Ser3013Thr)
c.9179G>C (p.Ser3060Thr)
c.9128G>C (p.Ser3043Thr)
c.9125G>C (p.Ser3042Thr)
1g.21842307C>TCA338915785HSPG2c.8984G>A (p.Ser2995Asn)
c.8987G>A (p.Ser2996Asn)
c.9530G>A (p.Ser3177Asn)
c.9482G>A (p.Ser3161Asn)
c.9461G>A (p.Ser3154Asn)
c.9533G>A (p.Ser3178Asn)
c.9254G>A (p.Ser3085Asn)
c.9038G>A (p.Ser3013Asn)
c.9179G>A (p.Ser3060Asn)
c.9128G>A (p.Ser3043Asn)
c.9125G>A (p.Ser3042Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.21842308T>ACA19108366HSPG2c.8983A>T (p.Ser2995Cys)
c.8986A>T (p.Ser2996Cys)
c.9529A>T (p.Ser3177Cys)
c.9481A>T (p.Ser3161Cys)
c.9460A>T (p.Ser3154Cys)
c.9532A>T (p.Ser3178Cys)
c.9253A>T (p.Ser3085Cys)
c.9037A>T (p.Ser3013Cys)
c.9178A>T (p.Ser3060Cys)
c.9127A>T (p.Ser3043Cys)
c.9124A>T (p.Ser3042Cys)
 dbSNP
1g.21842308T>CCA670594HSPG2c.8983A>G (p.Ser2995Gly)
c.8986A>G (p.Ser2996Gly)
c.9529A>G (p.Ser3177Gly)
c.9481A>G (p.Ser3161Gly)
c.9460A>G (p.Ser3154Gly)
c.9532A>G (p.Ser3178Gly)
c.9253A>G (p.Ser3085Gly)
c.9037A>G (p.Ser3013Gly)
c.9178A>G (p.Ser3060Gly)
c.9127A>G (p.Ser3043Gly)
c.9124A>G (p.Ser3042Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842308T>GCA19108370HSPG2c.8983A>C (p.Ser2995Arg)
c.8986A>C (p.Ser2996Arg)
c.9529A>C (p.Ser3177Arg)
c.9481A>C (p.Ser3161Arg)
c.9460A>C (p.Ser3154Arg)
c.9532A>C (p.Ser3178Arg)
c.9253A>C (p.Ser3085Arg)
c.9037A>C (p.Ser3013Arg)
c.9178A>C (p.Ser3060Arg)
c.9127A>C (p.Ser3043Arg)
c.9124A>C (p.Ser3042Arg)
 dbSNP
1g.21842308T=CA1139921405HSPG2c.8983A= (p.Ser2995=)
c.8986A= (p.Ser2996=)
c.9529A= (p.Ser3177=)
c.9481A= (p.Ser3161=)
c.9460A= (p.Ser3154=)
c.9532A= (p.Ser3178=)
c.9253A= (p.Ser3085=)
c.9037A= (p.Ser3013=)
c.9178A= (p.Ser3060=)
c.9127A= (p.Ser3043=)
c.9124A= (p.Ser3042=)
1g.21842308_21842309delinsCACA2580061531HSPG2c.8982_8983delinsTG (p.Ser2995Gly)
c.8985_8986delinsTG (p.Ser2996Gly)
c.9528_9529delinsTG (p.Ser3177Gly)
c.9480_9481delinsTG (p.Ser3161Gly)
c.9459_9460delinsTG (p.Ser3154Gly)
c.9531_9532delinsTG (p.Ser3178Gly)
c.9252_9253delinsTG (p.Ser3085Gly)
c.9036_9037delinsTG (p.Ser3013Gly)
c.9177_9178delinsTG (p.Ser3060Gly)
c.9126_9127delinsTG (p.Ser3043Gly)
c.9123_9124delinsTG (p.Ser3042Gly)
 ClinVar
1g.21842309G>ACA670595HSPG2c.8982C>T (p.Ala2994=)
c.8985C>T (p.Ala2995=)
c.9528C>T (p.Ala3176=)
c.9480C>T (p.Ala3160=)
c.9459C>T (p.Ala3153=)
c.9531C>T (p.Ala3177=)
c.9252C>T (p.Ala3084=)
c.9036C>T (p.Ala3012=)
c.9177C>T (p.Ala3059=)
c.9126C>T (p.Ala3042=)
c.9123C>T (p.Ala3041=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842309G>CCA416679329HSPG2c.8982C>G (p.Ala2994=)
c.8985C>G (p.Ala2995=)
c.9528C>G (p.Ala3176=)
c.9480C>G (p.Ala3160=)
c.9459C>G (p.Ala3153=)
c.9531C>G (p.Ala3177=)
c.9252C>G (p.Ala3084=)
c.9036C>G (p.Ala3012=)
c.9177C>G (p.Ala3059=)
c.9126C>G (p.Ala3042=)
c.9123C>G (p.Ala3041=)
1g.21842309G=CA1141958775HSPG2c.8982C= (p.Ala2994=)
c.8985C= (p.Ala2995=)
c.9528C= (p.Ala3176=)
c.9480C= (p.Ala3160=)
c.9459C= (p.Ala3153=)
c.9531C= (p.Ala3177=)
c.9252C= (p.Ala3084=)
c.9036C= (p.Ala3012=)
c.9177C= (p.Ala3059=)
c.9126C= (p.Ala3042=)
c.9123C= (p.Ala3041=)
1g.21842309G>TCA416679330HSPG2c.8982C>A (p.Ala2994=)
c.8985C>A (p.Ala2995=)
c.9528C>A (p.Ala3176=)
c.9480C>A (p.Ala3160=)
c.9459C>A (p.Ala3153=)
c.9531C>A (p.Ala3177=)
c.9252C>A (p.Ala3084=)
c.9036C>A (p.Ala3012=)
c.9177C>A (p.Ala3059=)
c.9126C>A (p.Ala3042=)
c.9123C>A (p.Ala3041=)
1g.21842310G>ACA338915793HSPG2c.8981C>T (p.Ala2994Val)
c.8984C>T (p.Ala2995Val)
c.9527C>T (p.Ala3176Val)
c.9479C>T (p.Ala3160Val)
c.9458C>T (p.Ala3153Val)
c.9530C>T (p.Ala3177Val)
c.9251C>T (p.Ala3084Val)
c.9035C>T (p.Ala3012Val)
c.9176C>T (p.Ala3059Val)
c.9125C>T (p.Ala3042Val)
c.9122C>T (p.Ala3041Val)
1g.21842310G>CCA338915788HSPG2c.8981C>G (p.Ala2994Gly)
c.8984C>G (p.Ala2995Gly)
c.9527C>G (p.Ala3176Gly)
c.9479C>G (p.Ala3160Gly)
c.9458C>G (p.Ala3153Gly)
c.9530C>G (p.Ala3177Gly)
c.9251C>G (p.Ala3084Gly)
c.9035C>G (p.Ala3012Gly)
c.9176C>G (p.Ala3059Gly)
c.9125C>G (p.Ala3042Gly)
c.9122C>G (p.Ala3041Gly)
1g.21842310G>TCA338915789HSPG2c.8981C>A (p.Ala2994Asp)
c.8984C>A (p.Ala2995Asp)
c.9527C>A (p.Ala3176Asp)
c.9479C>A (p.Ala3160Asp)
c.9458C>A (p.Ala3153Asp)
c.9530C>A (p.Ala3177Asp)
c.9251C>A (p.Ala3084Asp)
c.9035C>A (p.Ala3012Asp)
c.9176C>A (p.Ala3059Asp)
c.9125C>A (p.Ala3042Asp)
c.9122C>A (p.Ala3041Asp)
1g.21842311C>ACA338915795HSPG2c.8980G>T (p.Ala2994Ser)
c.8983G>T (p.Ala2995Ser)
c.9526G>T (p.Ala3176Ser)
c.9478G>T (p.Ala3160Ser)
c.9457G>T (p.Ala3153Ser)
c.9529G>T (p.Ala3177Ser)
c.9250G>T (p.Ala3084Ser)
c.9034G>T (p.Ala3012Ser)
c.9175G>T (p.Ala3059Ser)
c.9124G>T (p.Ala3042Ser)
c.9121G>T (p.Ala3041Ser)
1g.21842311C>GCA338915797HSPG2c.8980G>C (p.Ala2994Pro)
c.8983G>C (p.Ala2995Pro)
c.9526G>C (p.Ala3176Pro)
c.9478G>C (p.Ala3160Pro)
c.9457G>C (p.Ala3153Pro)
c.9529G>C (p.Ala3177Pro)
c.9250G>C (p.Ala3084Pro)
c.9034G>C (p.Ala3012Pro)
c.9175G>C (p.Ala3059Pro)
c.9124G>C (p.Ala3042Pro)
c.9121G>C (p.Ala3041Pro)
 gnomAD v4
1g.21842311C>TCA338915798HSPG2c.8980G>A (p.Ala2994Thr)
c.8983G>A (p.Ala2995Thr)
c.9526G>A (p.Ala3176Thr)
c.9478G>A (p.Ala3160Thr)
c.9457G>A (p.Ala3153Thr)
c.9529G>A (p.Ala3177Thr)
c.9250G>A (p.Ala3084Thr)
c.9034G>A (p.Ala3012Thr)
c.9175G>A (p.Ala3059Thr)
c.9124G>A (p.Ala3042Thr)
c.9121G>A (p.Ala3041Thr)
1g.21842312T>ACA416679334HSPG2c.8979A>T (p.Ala2993=)
c.8982A>T (p.Ala2994=)
c.9525A>T (p.Ala3175=)
c.9477A>T (p.Ala3159=)
c.9456A>T (p.Ala3152=)
c.9528A>T (p.Ala3176=)
c.9249A>T (p.Ala3083=)
c.9033A>T (p.Ala3011=)
c.9174A>T (p.Ala3058=)
c.9123A>T (p.Ala3041=)
c.9120A>T (p.Ala3040=)
1g.21842312T>CCA416679335HSPG2c.8979A>G (p.Ala2993=)
c.8982A>G (p.Ala2994=)
c.9525A>G (p.Ala3175=)
c.9477A>G (p.Ala3159=)
c.9456A>G (p.Ala3152=)
c.9528A>G (p.Ala3176=)
c.9249A>G (p.Ala3083=)
c.9033A>G (p.Ala3011=)
c.9174A>G (p.Ala3058=)
c.9123A>G (p.Ala3041=)
c.9120A>G (p.Ala3040=)
1g.21842312T>GCA416679332HSPG2c.8979A>C (p.Ala2993=)
c.8982A>C (p.Ala2994=)
c.9525A>C (p.Ala3175=)
c.9477A>C (p.Ala3159=)
c.9456A>C (p.Ala3152=)
c.9528A>C (p.Ala3176=)
c.9249A>C (p.Ala3083=)
c.9033A>C (p.Ala3011=)
c.9174A>C (p.Ala3058=)
c.9123A>C (p.Ala3041=)
c.9120A>C (p.Ala3040=)
1g.21842313G>ACA338915800HSPG2c.8978C>T (p.Ala2993Val)
c.8981C>T (p.Ala2994Val)
c.9524C>T (p.Ala3175Val)
c.9476C>T (p.Ala3159Val)
c.9455C>T (p.Ala3152Val)
c.9527C>T (p.Ala3176Val)
c.9248C>T (p.Ala3083Val)
c.9032C>T (p.Ala3011Val)
c.9173C>T (p.Ala3058Val)
c.9122C>T (p.Ala3041Val)
c.9119C>T (p.Ala3040Val)
 dbSNP gnomAD v2 gnomAD v4
1g.21842313G>CCA338915802HSPG2c.8978C>G (p.Ala2993Gly)
c.8981C>G (p.Ala2994Gly)
c.9524C>G (p.Ala3175Gly)
c.9476C>G (p.Ala3159Gly)
c.9455C>G (p.Ala3152Gly)
c.9527C>G (p.Ala3176Gly)
c.9248C>G (p.Ala3083Gly)
c.9032C>G (p.Ala3011Gly)
c.9173C>G (p.Ala3058Gly)
c.9122C>G (p.Ala3041Gly)
c.9119C>G (p.Ala3040Gly)
1g.21842313G=CA1158134070HSPG2c.8978C= (p.Ala2993=)
c.8981C= (p.Ala2994=)
c.9524C= (p.Ala3175=)
c.9476C= (p.Ala3159=)
c.9455C= (p.Ala3152=)
c.9527C= (p.Ala3176=)
c.9248C= (p.Ala3083=)
c.9032C= (p.Ala3011=)
c.9173C= (p.Ala3058=)
c.9122C= (p.Ala3041=)
c.9119C= (p.Ala3040=)
1g.21842313G>TCA338915803HSPG2c.8978C>A (p.Ala2993Glu)
c.8981C>A (p.Ala2994Glu)
c.9524C>A (p.Ala3175Glu)
c.9476C>A (p.Ala3159Glu)
c.9455C>A (p.Ala3152Glu)
c.9527C>A (p.Ala3176Glu)
c.9248C>A (p.Ala3083Glu)
c.9032C>A (p.Ala3011Glu)
c.9173C>A (p.Ala3058Glu)
c.9122C>A (p.Ala3041Glu)
c.9119C>A (p.Ala3040Glu)
 gnomAD v4
1g.21842314C>ACA338915805HSPG2c.8977G>T (p.Ala2993Ser)
c.8980G>T (p.Ala2994Ser)
c.9523G>T (p.Ala3175Ser)
c.9475G>T (p.Ala3159Ser)
c.9454G>T (p.Ala3152Ser)
c.9526G>T (p.Ala3176Ser)
c.9247G>T (p.Ala3083Ser)
c.9031G>T (p.Ala3011Ser)
c.9172G>T (p.Ala3058Ser)
c.9121G>T (p.Ala3041Ser)
c.9118G>T (p.Ala3040Ser)
1g.21842314C>GCA338915807HSPG2c.8977G>C (p.Ala2993Pro)
c.8980G>C (p.Ala2994Pro)
c.9523G>C (p.Ala3175Pro)
c.9475G>C (p.Ala3159Pro)
c.9454G>C (p.Ala3152Pro)
c.9526G>C (p.Ala3176Pro)
c.9247G>C (p.Ala3083Pro)
c.9031G>C (p.Ala3011Pro)
c.9172G>C (p.Ala3058Pro)
c.9121G>C (p.Ala3041Pro)
c.9118G>C (p.Ala3040Pro)
1g.21842314C>TCA338915809HSPG2c.8977G>A (p.Ala2993Thr)
c.8980G>A (p.Ala2994Thr)
c.9523G>A (p.Ala3175Thr)
c.9475G>A (p.Ala3159Thr)
c.9454G>A (p.Ala3152Thr)
c.9526G>A (p.Ala3176Thr)
c.9247G>A (p.Ala3083Thr)
c.9031G>A (p.Ala3011Thr)
c.9172G>A (p.Ala3058Thr)
c.9121G>A (p.Ala3041Thr)
c.9118G>A (p.Ala3040Thr)
 gnomAD v4
1g.21842315A>CCA416679340HSPG2c.8976T>G (p.Arg2992=)
c.8979T>G (p.Arg2993=)
c.9522T>G (p.Arg3174=)
c.9474T>G (p.Arg3158=)
c.9453T>G (p.Arg3151=)
c.9525T>G (p.Arg3175=)
c.9246T>G (p.Arg3082=)
c.9030T>G (p.Arg3010=)
c.9171T>G (p.Arg3057=)
c.9120T>G (p.Arg3040=)
c.9117T>G (p.Arg3039=)
1g.21842315A>GCA416679339HSPG2c.8976T>C (p.Arg2992=)
c.8979T>C (p.Arg2993=)
c.9522T>C (p.Arg3174=)
c.9474T>C (p.Arg3158=)
c.9453T>C (p.Arg3151=)
c.9525T>C (p.Arg3175=)
c.9246T>C (p.Arg3082=)
c.9030T>C (p.Arg3010=)
c.9171T>C (p.Arg3057=)
c.9120T>C (p.Arg3040=)
c.9117T>C (p.Arg3039=)
1g.21842315A>TCA416679338HSPG2c.8976T>A (p.Arg2992=)
c.8979T>A (p.Arg2993=)
c.9522T>A (p.Arg3174=)
c.9474T>A (p.Arg3158=)
c.9453T>A (p.Arg3151=)
c.9525T>A (p.Arg3175=)
c.9246T>A (p.Arg3082=)
c.9030T>A (p.Arg3010=)
c.9171T>A (p.Arg3057=)
c.9120T>A (p.Arg3040=)
c.9117T>A (p.Arg3039=)
1g.21842316C>ACA338915810HSPG2c.8975G>T (p.Arg2992Leu)
c.8978G>T (p.Arg2993Leu)
c.9521G>T (p.Arg3174Leu)
c.9473G>T (p.Arg3158Leu)
c.9452G>T (p.Arg3151Leu)
c.9524G>T (p.Arg3175Leu)
c.9245G>T (p.Arg3082Leu)
c.9029G>T (p.Arg3010Leu)
c.9170G>T (p.Arg3057Leu)
c.9119G>T (p.Arg3040Leu)
c.9116G>T (p.Arg3039Leu)
1g.21842316C=CA1143603966HSPG2c.8975G= (p.Arg2992=)
c.8978G= (p.Arg2993=)
c.9521G= (p.Arg3174=)
c.9473G= (p.Arg3158=)
c.9452G= (p.Arg3151=)
c.9524G= (p.Arg3175=)
c.9245G= (p.Arg3082=)
c.9029G= (p.Arg3010=)
c.9170G= (p.Arg3057=)
c.9119G= (p.Arg3040=)
c.9116G= (p.Arg3039=)
1g.21842316C>GCA338915812HSPG2c.8975G>C (p.Arg2992Pro)
c.8978G>C (p.Arg2993Pro)
c.9521G>C (p.Arg3174Pro)
c.9473G>C (p.Arg3158Pro)
c.9452G>C (p.Arg3151Pro)
c.9524G>C (p.Arg3175Pro)
c.9245G>C (p.Arg3082Pro)
c.9029G>C (p.Arg3010Pro)
c.9170G>C (p.Arg3057Pro)
c.9119G>C (p.Arg3040Pro)
c.9116G>C (p.Arg3039Pro)
1g.21842316C>TCA670596HSPG2c.8975G>A (p.Arg2992His)
c.8978G>A (p.Arg2993His)
c.9521G>A (p.Arg3174His)
c.9473G>A (p.Arg3158His)
c.9452G>A (p.Arg3151His)
c.9524G>A (p.Arg3175His)
c.9245G>A (p.Arg3082His)
c.9029G>A (p.Arg3010His)
c.9170G>A (p.Arg3057His)
c.9119G>A (p.Arg3040His)
c.9116G>A (p.Arg3039His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842317G>ACA338915816HSPG2c.8974C>T (p.Arg2992Cys)
c.8977C>T (p.Arg2993Cys)
c.9520C>T (p.Arg3174Cys)
c.9472C>T (p.Arg3158Cys)
c.9451C>T (p.Arg3151Cys)
c.9523C>T (p.Arg3175Cys)
c.9244C>T (p.Arg3082Cys)
c.9028C>T (p.Arg3010Cys)
c.9169C>T (p.Arg3057Cys)
c.9118C>T (p.Arg3040Cys)
c.9115C>T (p.Arg3039Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.21842317G>CCA338915819HSPG2c.8974C>G (p.Arg2992Gly)
c.8977C>G (p.Arg2993Gly)
c.9520C>G (p.Arg3174Gly)
c.9472C>G (p.Arg3158Gly)
c.9451C>G (p.Arg3151Gly)
c.9523C>G (p.Arg3175Gly)
c.9244C>G (p.Arg3082Gly)
c.9028C>G (p.Arg3010Gly)
c.9169C>G (p.Arg3057Gly)
c.9118C>G (p.Arg3040Gly)
c.9115C>G (p.Arg3039Gly)
1g.21842317G=CA1158134071HSPG2c.8974C= (p.Arg2992=)
c.8977C= (p.Arg2993=)
c.9520C= (p.Arg3174=)
c.9472C= (p.Arg3158=)
c.9451C= (p.Arg3151=)
c.9523C= (p.Arg3175=)
c.9244C= (p.Arg3082=)
c.9028C= (p.Arg3010=)
c.9169C= (p.Arg3057=)
c.9118C= (p.Arg3040=)
c.9115C= (p.Arg3039=)
1g.21842317G>TCA338915817HSPG2c.8974C>A (p.Arg2992Ser)
c.8977C>A (p.Arg2993Ser)
c.9520C>A (p.Arg3174Ser)
c.9472C>A (p.Arg3158Ser)
c.9451C>A (p.Arg3151Ser)
c.9523C>A (p.Arg3175Ser)
c.9244C>A (p.Arg3082Ser)
c.9028C>A (p.Arg3010Ser)
c.9169C>A (p.Arg3057Ser)
c.9118C>A (p.Arg3040Ser)
c.9115C>A (p.Arg3039Ser)
1g.21842318A>CCA338915822HSPG2c.8973T>G (p.Cys2991Trp)
c.8976T>G (p.Cys2992Trp)
c.9519T>G (p.Cys3173Trp)
c.9471T>G (p.Cys3157Trp)
c.9450T>G (p.Cys3150Trp)
c.9522T>G (p.Cys3174Trp)
c.9243T>G (p.Cys3081Trp)
c.9027T>G (p.Cys3009Trp)
c.9168T>G (p.Cys3056Trp)
c.9117T>G (p.Cys3039Trp)
c.9114T>G (p.Cys3038Trp)
1g.21842318A>GCA416679346HSPG2c.8973T>C (p.Cys2991=)
c.8976T>C (p.Cys2992=)
c.9519T>C (p.Cys3173=)
c.9471T>C (p.Cys3157=)
c.9450T>C (p.Cys3150=)
c.9522T>C (p.Cys3174=)
c.9243T>C (p.Cys3081=)
c.9027T>C (p.Cys3009=)
c.9168T>C (p.Cys3056=)
c.9117T>C (p.Cys3039=)
c.9114T>C (p.Cys3038=)
1g.21842318A>TCA338915823HSPG2c.8973T>A (p.Cys2991Ter)
c.8976T>A (p.Cys2992Ter)
c.9519T>A (p.Cys3173Ter)
c.9471T>A (p.Cys3157Ter)
c.9450T>A (p.Cys3150Ter)
c.9522T>A (p.Cys3174Ter)
c.9243T>A (p.Cys3081Ter)
c.9027T>A (p.Cys3009Ter)
c.9168T>A (p.Cys3056Ter)
c.9117T>A (p.Cys3039Ter)
c.9114T>A (p.Cys3038Ter)
1g.21842319C>ACA338915825HSPG2c.8972G>T (p.Cys2991Phe)
c.8975G>T (p.Cys2992Phe)
c.9518G>T (p.Cys3173Phe)
c.9470G>T (p.Cys3157Phe)
c.9449G>T (p.Cys3150Phe)
c.9521G>T (p.Cys3174Phe)
c.9242G>T (p.Cys3081Phe)
c.9026G>T (p.Cys3009Phe)
c.9167G>T (p.Cys3056Phe)
c.9116G>T (p.Cys3039Phe)
c.9113G>T (p.Cys3038Phe)
1g.21842319C>GCA338915829HSPG2c.8972G>C (p.Cys2991Ser)
c.8975G>C (p.Cys2992Ser)
c.9518G>C (p.Cys3173Ser)
c.9470G>C (p.Cys3157Ser)
c.9449G>C (p.Cys3150Ser)
c.9521G>C (p.Cys3174Ser)
c.9242G>C (p.Cys3081Ser)
c.9026G>C (p.Cys3009Ser)
c.9167G>C (p.Cys3056Ser)
c.9116G>C (p.Cys3039Ser)
c.9113G>C (p.Cys3038Ser)
1g.21842319C>TCA338915827HSPG2c.8972G>A (p.Cys2991Tyr)
c.8975G>A (p.Cys2992Tyr)
c.9518G>A (p.Cys3173Tyr)
c.9470G>A (p.Cys3157Tyr)
c.9449G>A (p.Cys3150Tyr)
c.9521G>A (p.Cys3174Tyr)
c.9242G>A (p.Cys3081Tyr)
c.9026G>A (p.Cys3009Tyr)
c.9167G>A (p.Cys3056Tyr)
c.9116G>A (p.Cys3039Tyr)
c.9113G>A (p.Cys3038Tyr)
1g.21842320A=CA1148245086HSPG2c.8971T= (p.Cys2991=)
c.8974T= (p.Cys2992=)
c.9517T= (p.Cys3173=)
c.9469T= (p.Cys3157=)
c.9448T= (p.Cys3150=)
c.9520T= (p.Cys3174=)
c.9241T= (p.Cys3081=)
c.9025T= (p.Cys3009=)
c.9166T= (p.Cys3056=)
c.9115T= (p.Cys3039=)
c.9112T= (p.Cys3038=)
1g.21842320A>CCA338915831HSPG2c.8971T>G (p.Cys2991Gly)
c.8974T>G (p.Cys2992Gly)
c.9517T>G (p.Cys3173Gly)
c.9469T>G (p.Cys3157Gly)
c.9448T>G (p.Cys3150Gly)
c.9520T>G (p.Cys3174Gly)
c.9241T>G (p.Cys3081Gly)
c.9025T>G (p.Cys3009Gly)
c.9166T>G (p.Cys3056Gly)
c.9115T>G (p.Cys3039Gly)
c.9112T>G (p.Cys3038Gly)
 ClinVar dbSNP
1g.21842320A>GCA670597HSPG2c.8971T>C (p.Cys2991Arg)
c.8974T>C (p.Cys2992Arg)
c.9517T>C (p.Cys3173Arg)
c.9469T>C (p.Cys3157Arg)
c.9448T>C (p.Cys3150Arg)
c.9520T>C (p.Cys3174Arg)
c.9241T>C (p.Cys3081Arg)
c.9025T>C (p.Cys3009Arg)
c.9166T>C (p.Cys3056Arg)
c.9115T>C (p.Cys3039Arg)
c.9112T>C (p.Cys3038Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21842320A>TCA338915833HSPG2c.8971T>A (p.Cys2991Ser)
c.8974T>A (p.Cys2992Ser)
c.9517T>A (p.Cys3173Ser)
c.9469T>A (p.Cys3157Ser)
c.9448T>A (p.Cys3150Ser)
c.9520T>A (p.Cys3174Ser)
c.9241T>A (p.Cys3081Ser)
c.9025T>A (p.Cys3009Ser)
c.9166T>A (p.Cys3056Ser)
c.9115T>A (p.Cys3039Ser)
c.9112T>A (p.Cys3038Ser)
1g.21842321C>ACA416679350HSPG2c.8970G>T (p.Val2990=)
c.8973G>T (p.Val2991=)
c.9516G>T (p.Val3172=)
c.9468G>T (p.Val3156=)
c.9447G>T (p.Val3149=)
c.9519G>T (p.Val3173=)
c.9240G>T (p.Val3080=)
c.9024G>T (p.Val3008=)
c.9165G>T (p.Val3055=)
c.9114G>T (p.Val3038=)
c.9111G>T (p.Val3037=)
1g.21842321C=CA1158134072HSPG2c.8970G= (p.Val2990=)
c.8973G= (p.Val2991=)
c.9516G= (p.Val3172=)
c.9468G= (p.Val3156=)
c.9447G= (p.Val3149=)
c.9519G= (p.Val3173=)
c.9240G= (p.Val3080=)
c.9024G= (p.Val3008=)
c.9165G= (p.Val3055=)
c.9114G= (p.Val3038=)
c.9111G= (p.Val3037=)
1g.21842321C>GCA416679352HSPG2c.8970G>C (p.Val2990=)
c.8973G>C (p.Val2991=)
c.9516G>C (p.Val3172=)
c.9468G>C (p.Val3156=)
c.9447G>C (p.Val3149=)
c.9519G>C (p.Val3173=)
c.9240G>C (p.Val3080=)
c.9024G>C (p.Val3008=)
c.9165G>C (p.Val3055=)
c.9114G>C (p.Val3038=)
c.9111G>C (p.Val3037=)
1g.21842321C>TCA416679354HSPG2c.8970G>A (p.Val2990=)
c.8973G>A (p.Val2991=)
c.9516G>A (p.Val3172=)
c.9468G>A (p.Val3156=)
c.9447G>A (p.Val3149=)
c.9519G>A (p.Val3173=)
c.9240G>A (p.Val3080=)
c.9024G>A (p.Val3008=)
c.9165G>A (p.Val3055=)
c.9114G>A (p.Val3038=)
c.9111G>A (p.Val3037=)
 dbSNP gnomAD v2 gnomAD v4
1g.21842322A>CCA338915836HSPG2c.8969T>G (p.Val2990Gly)
c.8972T>G (p.Val2991Gly)
c.9515T>G (p.Val3172Gly)
c.9467T>G (p.Val3156Gly)
c.9446T>G (p.Val3149Gly)
c.9518T>G (p.Val3173Gly)
c.9239T>G (p.Val3080Gly)
c.9023T>G (p.Val3008Gly)
c.9164T>G (p.Val3055Gly)
c.9113T>G (p.Val3038Gly)
c.9110T>G (p.Val3037Gly)
1g.21842322A>GCA338915838HSPG2c.8969T>C (p.Val2990Ala)
c.8972T>C (p.Val2991Ala)
c.9515T>C (p.Val3172Ala)
c.9467T>C (p.Val3156Ala)
c.9446T>C (p.Val3149Ala)
c.9518T>C (p.Val3173Ala)
c.9239T>C (p.Val3080Ala)
c.9023T>C (p.Val3008Ala)
c.9164T>C (p.Val3055Ala)
c.9113T>C (p.Val3038Ala)
c.9110T>C (p.Val3037Ala)
1g.21842322A>TCA338915839HSPG2c.8969T>A (p.Val2990Glu)
c.8972T>A (p.Val2991Glu)
c.9515T>A (p.Val3172Glu)
c.9467T>A (p.Val3156Glu)
c.9446T>A (p.Val3149Glu)
c.9518T>A (p.Val3173Glu)
c.9239T>A (p.Val3080Glu)
c.9023T>A (p.Val3008Glu)
c.9164T>A (p.Val3055Glu)
c.9113T>A (p.Val3038Glu)
c.9110T>A (p.Val3037Glu)
1g.21842323C>ACA338915841HSPG2c.8968G>T (p.Val2990Leu)
c.8971G>T (p.Val2991Leu)
c.9514G>T (p.Val3172Leu)
c.9466G>T (p.Val3156Leu)
c.9445G>T (p.Val3149Leu)
c.9517G>T (p.Val3173Leu)
c.9238G>T (p.Val3080Leu)
c.9022G>T (p.Val3008Leu)
c.9163G>T (p.Val3055Leu)
c.9112G>T (p.Val3038Leu)
c.9109G>T (p.Val3037Leu)
1g.21842323C=CA1158134073HSPG2c.8968G= (p.Val2990=)
c.8971G= (p.Val2991=)
c.9514G= (p.Val3172=)
c.9466G= (p.Val3156=)
c.9445G= (p.Val3149=)
c.9517G= (p.Val3173=)
c.9238G= (p.Val3080=)
c.9022G= (p.Val3008=)
c.9163G= (p.Val3055=)
c.9112G= (p.Val3038=)
c.9109G= (p.Val3037=)
1g.21842323C>GCA338915843HSPG2c.8968G>C (p.Val2990Leu)
c.8971G>C (p.Val2991Leu)
c.9514G>C (p.Val3172Leu)
c.9466G>C (p.Val3156Leu)
c.9445G>C (p.Val3149Leu)
c.9517G>C (p.Val3173Leu)
c.9238G>C (p.Val3080Leu)
c.9022G>C (p.Val3008Leu)
c.9163G>C (p.Val3055Leu)
c.9112G>C (p.Val3038Leu)
c.9109G>C (p.Val3037Leu)
1g.21842323C>TCA338915845HSPG2c.8968G>A (p.Val2990Met)
c.8971G>A (p.Val2991Met)
c.9514G>A (p.Val3172Met)
c.9466G>A (p.Val3156Met)
c.9445G>A (p.Val3149Met)
c.9517G>A (p.Val3173Met)
c.9238G>A (p.Val3080Met)
c.9022G>A (p.Val3008Met)
c.9163G>A (p.Val3055Met)
c.9112G>A (p.Val3038Met)
c.9109G>A (p.Val3037Met)
 dbSNP
1g.21842324A=CA1158134074HSPG2c.8967T= (p.Tyr2989=)
c.8970T= (p.Tyr2990=)
c.9513T= (p.Tyr3171=)
c.9465T= (p.Tyr3155=)
c.9444T= (p.Tyr3148=)
c.9516T= (p.Tyr3172=)
c.9237T= (p.Tyr3079=)
c.9021T= (p.Tyr3007=)
c.9162T= (p.Tyr3054=)
c.9111T= (p.Tyr3037=)
c.9108T= (p.Tyr3036=)
1g.21842324A>CCA338915847HSPG2c.8967T>G (p.Tyr2989Ter)
c.8970T>G (p.Tyr2990Ter)
c.9513T>G (p.Tyr3171Ter)
c.9465T>G (p.Tyr3155Ter)
c.9444T>G (p.Tyr3148Ter)
c.9516T>G (p.Tyr3172Ter)
c.9237T>G (p.Tyr3079Ter)
c.9021T>G (p.Tyr3007Ter)
c.9162T>G (p.Tyr3054Ter)
c.9111T>G (p.Tyr3037Ter)
c.9108T>G (p.Tyr3036Ter)
1g.21842324A>GCA670598HSPG2c.8967T>C (p.Tyr2989=)
c.8970T>C (p.Tyr2990=)
c.9513T>C (p.Tyr3171=)
c.9465T>C (p.Tyr3155=)
c.9444T>C (p.Tyr3148=)
c.9516T>C (p.Tyr3172=)
c.9237T>C (p.Tyr3079=)
c.9021T>C (p.Tyr3007=)
c.9162T>C (p.Tyr3054=)
c.9111T>C (p.Tyr3037=)
c.9108T>C (p.Tyr3036=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842324A>TCA338915850HSPG2c.8967T>A (p.Tyr2989Ter)
c.8970T>A (p.Tyr2990Ter)
c.9513T>A (p.Tyr3171Ter)
c.9465T>A (p.Tyr3155Ter)
c.9444T>A (p.Tyr3148Ter)
c.9516T>A (p.Tyr3172Ter)
c.9237T>A (p.Tyr3079Ter)
c.9021T>A (p.Tyr3007Ter)
c.9162T>A (p.Tyr3054Ter)
c.9111T>A (p.Tyr3037Ter)
c.9108T>A (p.Tyr3036Ter)
1g.21842325T>ACA338915855HSPG2c.8966A>T (p.Tyr2989Phe)
c.8969A>T (p.Tyr2990Phe)
c.9512A>T (p.Tyr3171Phe)
c.9464A>T (p.Tyr3155Phe)
c.9443A>T (p.Tyr3148Phe)
c.9515A>T (p.Tyr3172Phe)
c.9236A>T (p.Tyr3079Phe)
c.9020A>T (p.Tyr3007Phe)
c.9161A>T (p.Tyr3054Phe)
c.9110A>T (p.Tyr3037Phe)
c.9107A>T (p.Tyr3036Phe)
1g.21842325T>CCA338915852HSPG2c.8966A>G (p.Tyr2989Cys)
c.8969A>G (p.Tyr2990Cys)
c.9512A>G (p.Tyr3171Cys)
c.9464A>G (p.Tyr3155Cys)
c.9443A>G (p.Tyr3148Cys)
c.9515A>G (p.Tyr3172Cys)
c.9236A>G (p.Tyr3079Cys)
c.9020A>G (p.Tyr3007Cys)
c.9161A>G (p.Tyr3054Cys)
c.9110A>G (p.Tyr3037Cys)
c.9107A>G (p.Tyr3036Cys)
 gnomAD v4
1g.21842325T>GCA338915853HSPG2c.8966A>C (p.Tyr2989Ser)
c.8969A>C (p.Tyr2990Ser)
c.9512A>C (p.Tyr3171Ser)
c.9464A>C (p.Tyr3155Ser)
c.9443A>C (p.Tyr3148Ser)
c.9515A>C (p.Tyr3172Ser)
c.9236A>C (p.Tyr3079Ser)
c.9020A>C (p.Tyr3007Ser)
c.9161A>C (p.Tyr3054Ser)
c.9110A>C (p.Tyr3037Ser)
c.9107A>C (p.Tyr3036Ser)
1g.21842326A>CCA338915857HSPG2c.8965T>G (p.Tyr2989Asp)
c.8968T>G (p.Tyr2990Asp)
c.9511T>G (p.Tyr3171Asp)
c.9463T>G (p.Tyr3155Asp)
c.9442T>G (p.Tyr3148Asp)
c.9514T>G (p.Tyr3172Asp)
c.9235T>G (p.Tyr3079Asp)
c.9019T>G (p.Tyr3007Asp)
c.9160T>G (p.Tyr3054Asp)
c.9109T>G (p.Tyr3037Asp)
c.9106T>G (p.Tyr3036Asp)
1g.21842326A>GCA338915859HSPG2c.8965T>C (p.Tyr2989His)
c.8968T>C (p.Tyr2990His)
c.9511T>C (p.Tyr3171His)
c.9463T>C (p.Tyr3155His)
c.9442T>C (p.Tyr3148His)
c.9514T>C (p.Tyr3172His)
c.9235T>C (p.Tyr3079His)
c.9019T>C (p.Tyr3007His)
c.9160T>C (p.Tyr3054His)
c.9109T>C (p.Tyr3037His)
c.9106T>C (p.Tyr3036His)
1g.21842326A>TCA338915860HSPG2c.8965T>A (p.Tyr2989Asn)
c.8968T>A (p.Tyr2990Asn)
c.9511T>A (p.Tyr3171Asn)
c.9463T>A (p.Tyr3155Asn)
c.9442T>A (p.Tyr3148Asn)
c.9514T>A (p.Tyr3172Asn)
c.9235T>A (p.Tyr3079Asn)
c.9019T>A (p.Tyr3007Asn)
c.9160T>A (p.Tyr3054Asn)
c.9109T>A (p.Tyr3037Asn)
c.9106T>A (p.Tyr3036Asn)
1g.21842327C>ACA338915862HSPG2c.8964G>T (p.Glu2988Asp)
c.8967G>T (p.Glu2989Asp)
c.9510G>T (p.Glu3170Asp)
c.9462G>T (p.Glu3154Asp)
c.9441G>T (p.Glu3147Asp)
c.9513G>T (p.Glu3171Asp)
c.9234G>T (p.Glu3078Asp)
c.9018G>T (p.Glu3006Asp)
c.9159G>T (p.Glu3053Asp)
c.9108G>T (p.Glu3036Asp)
c.9105G>T (p.Glu3035Asp)
1g.21842327C=CA1158134075HSPG2c.8964G= (p.Glu2988=)
c.8967G= (p.Glu2989=)
c.9510G= (p.Glu3170=)
c.9462G= (p.Glu3154=)
c.9441G= (p.Glu3147=)
c.9513G= (p.Glu3171=)
c.9234G= (p.Glu3078=)
c.9018G= (p.Glu3006=)
c.9159G= (p.Glu3053=)
c.9108G= (p.Glu3036=)
c.9105G= (p.Glu3035=)
1g.21842327C>GCA670599HSPG2c.8964G>C (p.Glu2988Asp)
c.8967G>C (p.Glu2989Asp)
c.9510G>C (p.Glu3170Asp)
c.9462G>C (p.Glu3154Asp)
c.9441G>C (p.Glu3147Asp)
c.9513G>C (p.Glu3171Asp)
c.9234G>C (p.Glu3078Asp)
c.9018G>C (p.Glu3006Asp)
c.9159G>C (p.Glu3053Asp)
c.9108G>C (p.Glu3036Asp)
c.9105G>C (p.Glu3035Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21842327C>TCA416679359HSPG2c.8964G>A (p.Glu2988=)
c.8967G>A (p.Glu2989=)
c.9510G>A (p.Glu3170=)
c.9462G>A (p.Glu3154=)
c.9441G>A (p.Glu3147=)
c.9513G>A (p.Glu3171=)
c.9234G>A (p.Glu3078=)
c.9018G>A (p.Glu3006=)
c.9159G>A (p.Glu3053=)
c.9108G>A (p.Glu3036=)
c.9105G>A (p.Glu3035=)
 gnomAD v4
1g.21842328_21842329delCA2742776525HSPG2c.8963_8964del (p.Glu2988ValfsTer12)
c.8966_8967del (p.Glu2989ValfsTer12)
c.9509_9510del (p.Glu3170ValfsTer12)
c.9461_9462del (p.Glu3154ValfsTer12)
c.9440_9441del (p.Glu3147ValfsTer12)
c.9512_9513del (p.Glu3171ValfsTer12)
c.9233_9234del (p.Glu3078ValfsTer12)
c.9017_9018del (p.Glu3006ValfsTer12)
c.9158_9159del (p.Glu3053ValfsTer12)
c.9107_9108del (p.Glu3036ValfsTer12)
c.9104_9105del (p.Glu3035ValfsTer12)
1g.21842328T>ACA338915865HSPG2c.8963A>T (p.Glu2988Val)
c.8966A>T (p.Glu2989Val)
c.9509A>T (p.Glu3170Val)
c.9461A>T (p.Glu3154Val)
c.9440A>T (p.Glu3147Val)
c.9512A>T (p.Glu3171Val)
c.9233A>T (p.Glu3078Val)
c.9017A>T (p.Glu3006Val)
c.9158A>T (p.Glu3053Val)
c.9107A>T (p.Glu3036Val)
c.9104A>T (p.Glu3035Val)
1g.21842328T>CCA338915868HSPG2c.8963A>G (p.Glu2988Gly)
c.8966A>G (p.Glu2989Gly)
c.9509A>G (p.Glu3170Gly)
c.9461A>G (p.Glu3154Gly)
c.9440A>G (p.Glu3147Gly)
c.9512A>G (p.Glu3171Gly)
c.9233A>G (p.Glu3078Gly)
c.9017A>G (p.Glu3006Gly)
c.9158A>G (p.Glu3053Gly)
c.9107A>G (p.Glu3036Gly)
c.9104A>G (p.Glu3035Gly)
 dbSNP
1g.21842328T>GCA338915869HSPG2c.8963A>C (p.Glu2988Ala)
c.8966A>C (p.Glu2989Ala)
c.9509A>C (p.Glu3170Ala)
c.9461A>C (p.Glu3154Ala)
c.9440A>C (p.Glu3147Ala)
c.9512A>C (p.Glu3171Ala)
c.9233A>C (p.Glu3078Ala)
c.9017A>C (p.Glu3006Ala)
c.9158A>C (p.Glu3053Ala)
c.9107A>C (p.Glu3036Ala)
c.9104A>C (p.Glu3035Ala)
1g.21842328T=CA1158134076HSPG2c.8963A= (p.Glu2988=)
c.8966A= (p.Glu2989=)
c.9509A= (p.Glu3170=)
c.9461A= (p.Glu3154=)
c.9440A= (p.Glu3147=)
c.9512A= (p.Glu3171=)
c.9233A= (p.Glu3078=)
c.9017A= (p.Glu3006=)
c.9158A= (p.Glu3053=)
c.9107A= (p.Glu3036=)
c.9104A= (p.Glu3035=)
1g.21842329C>ACA338915872HSPG2c.8962G>T (p.Glu2988Ter)
c.8965G>T (p.Glu2989Ter)
c.9508G>T (p.Glu3170Ter)
c.9460G>T (p.Glu3154Ter)
c.9439G>T (p.Glu3147Ter)
c.9511G>T (p.Glu3171Ter)
c.9232G>T (p.Glu3078Ter)
c.9016G>T (p.Glu3006Ter)
c.9157G>T (p.Glu3053Ter)
c.9106G>T (p.Glu3036Ter)
c.9103G>T (p.Glu3035Ter)
1g.21842329C=CA1158134077HSPG2c.8962G= (p.Glu2988=)
c.8965G= (p.Glu2989=)
c.9508G= (p.Glu3170=)
c.9460G= (p.Glu3154=)
c.9439G= (p.Glu3147=)
c.9511G= (p.Glu3171=)
c.9232G= (p.Glu3078=)
c.9016G= (p.Glu3006=)
c.9157G= (p.Glu3053=)
c.9106G= (p.Glu3036=)
c.9103G= (p.Glu3035=)
1g.21842329C>GCA338915874HSPG2c.8962G>C (p.Glu2988Gln)
c.8965G>C (p.Glu2989Gln)
c.9508G>C (p.Glu3170Gln)
c.9460G>C (p.Glu3154Gln)
c.9439G>C (p.Glu3147Gln)
c.9511G>C (p.Glu3171Gln)
c.9232G>C (p.Glu3078Gln)
c.9016G>C (p.Glu3006Gln)
c.9157G>C (p.Glu3053Gln)
c.9106G>C (p.Glu3036Gln)
c.9103G>C (p.Glu3035Gln)
1g.21842329C>TCA670600HSPG2c.8962G>A (p.Glu2988Lys)
c.8965G>A (p.Glu2989Lys)
c.9508G>A (p.Glu3170Lys)
c.9460G>A (p.Glu3154Lys)
c.9439G>A (p.Glu3147Lys)
c.9511G>A (p.Glu3171Lys)
c.9232G>A (p.Glu3078Lys)
c.9016G>A (p.Glu3006Lys)
c.9157G>A (p.Glu3053Lys)
c.9106G>A (p.Glu3036Lys)
c.9103G>A (p.Glu3035Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842330G>ACA670601HSPG2c.8961C>T (p.Gly2987=)
c.8964C>T (p.Gly2988=)
c.9507C>T (p.Gly3169=)
c.9459C>T (p.Gly3153=)
c.9438C>T (p.Gly3146=)
c.9510C>T (p.Gly3170=)
c.9231C>T (p.Gly3077=)
c.9015C>T (p.Gly3005=)
c.9156C>T (p.Gly3052=)
c.9105C>T (p.Gly3035=)
c.9102C>T (p.Gly3034=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21842330G>CCA416679361HSPG2c.8961C>G (p.Gly2987=)
c.8964C>G (p.Gly2988=)
c.9507C>G (p.Gly3169=)
c.9459C>G (p.Gly3153=)
c.9438C>G (p.Gly3146=)
c.9510C>G (p.Gly3170=)
c.9231C>G (p.Gly3077=)
c.9015C>G (p.Gly3005=)
c.9156C>G (p.Gly3052=)
c.9105C>G (p.Gly3035=)
c.9102C>G (p.Gly3034=)
 gnomAD v4
1g.21842330G=CA1143693828HSPG2c.8961C= (p.Gly2987=)
c.8964C= (p.Gly2988=)
c.9507C= (p.Gly3169=)
c.9459C= (p.Gly3153=)
c.9438C= (p.Gly3146=)
c.9510C= (p.Gly3170=)
c.9231C= (p.Gly3077=)
c.9015C= (p.Gly3005=)
c.9156C= (p.Gly3052=)
c.9105C= (p.Gly3035=)
c.9102C= (p.Gly3034=)
1g.21842330G>TCA416679362HSPG2c.8961C>A (p.Gly2987=)
c.8964C>A (p.Gly2988=)
c.9507C>A (p.Gly3169=)
c.9459C>A (p.Gly3153=)
c.9438C>A (p.Gly3146=)
c.9510C>A (p.Gly3170=)
c.9231C>A (p.Gly3077=)
c.9015C>A (p.Gly3005=)
c.9156C>A (p.Gly3052=)
c.9105C>A (p.Gly3035=)
c.9102C>A (p.Gly3034=)
1g.21842331C>ACA338915880HSPG2c.8960G>T (p.Gly2987Val)
c.8963G>T (p.Gly2988Val)
c.9506G>T (p.Gly3169Val)
c.9458G>T (p.Gly3153Val)
c.9437G>T (p.Gly3146Val)
c.9509G>T (p.Gly3170Val)
c.9230G>T (p.Gly3077Val)
c.9014G>T (p.Gly3005Val)
c.9155G>T (p.Gly3052Val)
c.9104G>T (p.Gly3035Val)
c.9101G>T (p.Gly3034Val)
1g.21842331C>GCA338915877HSPG2c.8960G>C (p.Gly2987Ala)
c.8963G>C (p.Gly2988Ala)
c.9506G>C (p.Gly3169Ala)
c.9458G>C (p.Gly3153Ala)
c.9437G>C (p.Gly3146Ala)
c.9509G>C (p.Gly3170Ala)
c.9230G>C (p.Gly3077Ala)
c.9014G>C (p.Gly3005Ala)
c.9155G>C (p.Gly3052Ala)
c.9104G>C (p.Gly3035Ala)
c.9101G>C (p.Gly3034Ala)
1g.21842331C>TCA338915879HSPG2c.8960G>A (p.Gly2987Asp)
c.8963G>A (p.Gly2988Asp)
c.9506G>A (p.Gly3169Asp)
c.9458G>A (p.Gly3153Asp)
c.9437G>A (p.Gly3146Asp)
c.9509G>A (p.Gly3170Asp)
c.9230G>A (p.Gly3077Asp)
c.9014G>A (p.Gly3005Asp)
c.9155G>A (p.Gly3052Asp)
c.9104G>A (p.Gly3035Asp)
c.9101G>A (p.Gly3034Asp)
 gnomAD v4
1g.21842332C>ACA338915882HSPG2c.8959G>T (p.Gly2987Cys)
c.8962G>T (p.Gly2988Cys)
c.9505G>T (p.Gly3169Cys)
c.9457G>T (p.Gly3153Cys)
c.9436G>T (p.Gly3146Cys)
c.9508G>T (p.Gly3170Cys)
c.9229G>T (p.Gly3077Cys)
c.9013G>T (p.Gly3005Cys)
c.9154G>T (p.Gly3052Cys)
c.9103G>T (p.Gly3035Cys)
c.9100G>T (p.Gly3034Cys)
1g.21842332C>GCA338915883HSPG2c.8959G>C (p.Gly2987Arg)
c.8962G>C (p.Gly2988Arg)
c.9505G>C (p.Gly3169Arg)
c.9457G>C (p.Gly3153Arg)
c.9436G>C (p.Gly3146Arg)
c.9508G>C (p.Gly3170Arg)
c.9229G>C (p.Gly3077Arg)
c.9013G>C (p.Gly3005Arg)
c.9154G>C (p.Gly3052Arg)
c.9103G>C (p.Gly3035Arg)
c.9100G>C (p.Gly3034Arg)
1g.21842332C>TCA338915885HSPG2c.8959G>A (p.Gly2987Ser)
c.8962G>A (p.Gly2988Ser)
c.9505G>A (p.Gly3169Ser)
c.9457G>A (p.Gly3153Ser)
c.9436G>A (p.Gly3146Ser)
c.9508G>A (p.Gly3170Ser)
c.9229G>A (p.Gly3077Ser)
c.9013G>A (p.Gly3005Ser)
c.9154G>A (p.Gly3052Ser)
c.9103G>A (p.Gly3035Ser)
c.9100G>A (p.Gly3034Ser)
1g.21842333T>ACA416679363HSPG2c.8958A>T (p.Ser2986=)
c.8961A>T (p.Ser2987=)
c.9504A>T (p.Ser3168=)
c.9456A>T (p.Ser3152=)
c.9435A>T (p.Ser3145=)
c.9507A>T (p.Ser3169=)
c.9228A>T (p.Ser3076=)
c.9012A>T (p.Ser3004=)
c.9153A>T (p.Ser3051=)
c.9102A>T (p.Ser3034=)
c.9099A>T (p.Ser3033=)
1g.21842333T>CCA416679364HSPG2c.8958A>G (p.Ser2986=)
c.8961A>G (p.Ser2987=)
c.9504A>G (p.Ser3168=)
c.9456A>G (p.Ser3152=)
c.9435A>G (p.Ser3145=)
c.9507A>G (p.Ser3169=)
c.9228A>G (p.Ser3076=)
c.9012A>G (p.Ser3004=)
c.9153A>G (p.Ser3051=)
c.9102A>G (p.Ser3034=)
c.9099A>G (p.Ser3033=)
 dbSNP gnomAD v2 gnomAD v4
1g.21842333T>GCA416679365HSPG2c.8958A>C (p.Ser2986=)
c.8961A>C (p.Ser2987=)
c.9504A>C (p.Ser3168=)
c.9456A>C (p.Ser3152=)
c.9435A>C (p.Ser3145=)
c.9507A>C (p.Ser3169=)
c.9228A>C (p.Ser3076=)
c.9012A>C (p.Ser3004=)
c.9153A>C (p.Ser3051=)
c.9102A>C (p.Ser3034=)
c.9099A>C (p.Ser3033=)
1g.21842333T=CA1158134078HSPG2c.8958A= (p.Ser2986=)
c.8961A= (p.Ser2987=)
c.9504A= (p.Ser3168=)
c.9456A= (p.Ser3152=)
c.9435A= (p.Ser3145=)
c.9507A= (p.Ser3169=)
c.9228A= (p.Ser3076=)
c.9012A= (p.Ser3004=)
c.9153A= (p.Ser3051=)
c.9102A= (p.Ser3034=)
c.9099A= (p.Ser3033=)
1g.21842334G>ACA338915887HSPG2c.8957C>T (p.Ser2986Leu)
c.8960C>T (p.Ser2987Leu)
c.9503C>T (p.Ser3168Leu)
c.9455C>T (p.Ser3152Leu)
c.9434C>T (p.Ser3145Leu)
c.9506C>T (p.Ser3169Leu)
c.9227C>T (p.Ser3076Leu)
c.9011C>T (p.Ser3004Leu)
c.9152C>T (p.Ser3051Leu)
c.9101C>T (p.Ser3034Leu)
c.9098C>T (p.Ser3033Leu)
1g.21842334G>CCA338915888HSPG2c.8957C>G (p.Ser2986Ter)
c.8960C>G (p.Ser2987Ter)
c.9503C>G (p.Ser3168Ter)
c.9455C>G (p.Ser3152Ter)
c.9434C>G (p.Ser3145Ter)
c.9506C>G (p.Ser3169Ter)
c.9227C>G (p.Ser3076Ter)
c.9011C>G (p.Ser3004Ter)
c.9152C>G (p.Ser3051Ter)
c.9101C>G (p.Ser3034Ter)
c.9098C>G (p.Ser3033Ter)
1g.21842334G>TCA338915889HSPG2c.8957C>A (p.Ser2986Ter)
c.8960C>A (p.Ser2987Ter)
c.9503C>A (p.Ser3168Ter)
c.9455C>A (p.Ser3152Ter)
c.9434C>A (p.Ser3145Ter)
c.9506C>A (p.Ser3169Ter)
c.9227C>A (p.Ser3076Ter)
c.9011C>A (p.Ser3004Ter)
c.9152C>A (p.Ser3051Ter)
c.9101C>A (p.Ser3034Ter)
c.9098C>A (p.Ser3033Ter)
1g.21842335A>CCA338915892HSPG2c.8956T>G (p.Ser2986Ala)
c.8959T>G (p.Ser2987Ala)
c.9502T>G (p.Ser3168Ala)
c.9454T>G (p.Ser3152Ala)
c.9433T>G (p.Ser3145Ala)
c.9505T>G (p.Ser3169Ala)
c.9226T>G (p.Ser3076Ala)
c.9010T>G (p.Ser3004Ala)
c.9151T>G (p.Ser3051Ala)
c.9100T>G (p.Ser3034Ala)
c.9097T>G (p.Ser3033Ala)
1g.21842335A>GCA338915894HSPG2c.8956T>C (p.Ser2986Pro)
c.8959T>C (p.Ser2987Pro)
c.9502T>C (p.Ser3168Pro)
c.9454T>C (p.Ser3152Pro)
c.9433T>C (p.Ser3145Pro)
c.9505T>C (p.Ser3169Pro)
c.9226T>C (p.Ser3076Pro)
c.9010T>C (p.Ser3004Pro)
c.9151T>C (p.Ser3051Pro)
c.9100T>C (p.Ser3034Pro)
c.9097T>C (p.Ser3033Pro)
 gnomAD v4
1g.21842335A>TCA338915895HSPG2c.8956T>A (p.Ser2986Thr)
c.8959T>A (p.Ser2987Thr)
c.9502T>A (p.Ser3168Thr)
c.9454T>A (p.Ser3152Thr)
c.9433T>A (p.Ser3145Thr)
c.9505T>A (p.Ser3169Thr)
c.9226T>A (p.Ser3076Thr)
c.9010T>A (p.Ser3004Thr)
c.9151T>A (p.Ser3051Thr)
c.9100T>A (p.Ser3034Thr)
c.9097T>A (p.Ser3033Thr)
1g.21842336G>ACA416679369HSPG2c.8955C>T (p.Asp2985=)
c.8958C>T (p.Asp2986=)
c.9501C>T (p.Asp3167=)
c.9453C>T (p.Asp3151=)
c.9432C>T (p.Asp3144=)
c.9504C>T (p.Asp3168=)
c.9225C>T (p.Asp3075=)
c.9009C>T (p.Asp3003=)
c.9150C>T (p.Asp3050=)
c.9099C>T (p.Asp3033=)
c.9096C>T (p.Asp3032=)
1g.21842336G>CCA338915896HSPG2c.8955C>G (p.Asp2985Glu)
c.8958C>G (p.Asp2986Glu)
c.9501C>G (p.Asp3167Glu)
c.9453C>G (p.Asp3151Glu)
c.9432C>G (p.Asp3144Glu)
c.9504C>G (p.Asp3168Glu)
c.9225C>G (p.Asp3075Glu)
c.9009C>G (p.Asp3003Glu)
c.9150C>G (p.Asp3050Glu)
c.9099C>G (p.Asp3033Glu)
c.9096C>G (p.Asp3032Glu)
1g.21842336G>TCA338915898HSPG2c.8955C>A (p.Asp2985Glu)
c.8958C>A (p.Asp2986Glu)
c.9501C>A (p.Asp3167Glu)
c.9453C>A (p.Asp3151Glu)
c.9432C>A (p.Asp3144Glu)
c.9504C>A (p.Asp3168Glu)
c.9225C>A (p.Asp3075Glu)
c.9009C>A (p.Asp3003Glu)
c.9150C>A (p.Asp3050Glu)
c.9099C>A (p.Asp3033Glu)
c.9096C>A (p.Asp3032Glu)
1g.21842337T>ACA338915899HSPG2c.8954A>T (p.Asp2985Val)
c.8957A>T (p.Asp2986Val)
c.9500A>T (p.Asp3167Val)
c.9452A>T (p.Asp3151Val)
c.9431A>T (p.Asp3144Val)
c.9503A>T (p.Asp3168Val)
c.9224A>T (p.Asp3075Val)
c.9008A>T (p.Asp3003Val)
c.9149A>T (p.Asp3050Val)
c.9098A>T (p.Asp3033Val)
c.9095A>T (p.Asp3032Val)
1g.21842337T>CCA338915902HSPG2c.8954A>G (p.Asp2985Gly)
c.8957A>G (p.Asp2986Gly)
c.9500A>G (p.Asp3167Gly)
c.9452A>G (p.Asp3151Gly)
c.9431A>G (p.Asp3144Gly)
c.9503A>G (p.Asp3168Gly)
c.9224A>G (p.Asp3075Gly)
c.9008A>G (p.Asp3003Gly)
c.9149A>G (p.Asp3050Gly)
c.9098A>G (p.Asp3033Gly)
c.9095A>G (p.Asp3032Gly)
1g.21842337T>GCA338915900HSPG2c.8954A>C (p.Asp2985Ala)
c.8957A>C (p.Asp2986Ala)
c.9500A>C (p.Asp3167Ala)
c.9452A>C (p.Asp3151Ala)
c.9431A>C (p.Asp3144Ala)
c.9503A>C (p.Asp3168Ala)
c.9224A>C (p.Asp3075Ala)
c.9008A>C (p.Asp3003Ala)
c.9149A>C (p.Asp3050Ala)
c.9098A>C (p.Asp3033Ala)
c.9095A>C (p.Asp3032Ala)
1g.21842338C>ACA338915904HSPG2c.8953G>T (p.Asp2985Tyr)
c.8956G>T (p.Asp2986Tyr)
c.9499G>T (p.Asp3167Tyr)
c.9451G>T (p.Asp3151Tyr)
c.9430G>T (p.Asp3144Tyr)
c.9502G>T (p.Asp3168Tyr)
c.9223G>T (p.Asp3075Tyr)
c.9007G>T (p.Asp3003Tyr)
c.9148G>T (p.Asp3050Tyr)
c.9097G>T (p.Asp3033Tyr)
c.9094G>T (p.Asp3032Tyr)
 gnomAD v4
1g.21842338C=CA1158134079HSPG2c.8953G= (p.Asp2985=)
c.8956G= (p.Asp2986=)
c.9499G= (p.Asp3167=)
c.9451G= (p.Asp3151=)
c.9430G= (p.Asp3144=)
c.9502G= (p.Asp3168=)
c.9223G= (p.Asp3075=)
c.9007G= (p.Asp3003=)
c.9148G= (p.Asp3050=)
c.9097G= (p.Asp3033=)
c.9094G= (p.Asp3032=)
1g.21842338C>GCA338915906HSPG2c.8953G>C (p.Asp2985His)
c.8956G>C (p.Asp2986His)
c.9499G>C (p.Asp3167His)
c.9451G>C (p.Asp3151His)
c.9430G>C (p.Asp3144His)
c.9502G>C (p.Asp3168His)
c.9223G>C (p.Asp3075His)
c.9007G>C (p.Asp3003His)
c.9148G>C (p.Asp3050His)
c.9097G>C (p.Asp3033His)
c.9094G>C (p.Asp3032His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21842338C>TCA338915907HSPG2c.8953G>A (p.Asp2985Asn)
c.8956G>A (p.Asp2986Asn)
c.9499G>A (p.Asp3167Asn)
c.9451G>A (p.Asp3151Asn)
c.9430G>A (p.Asp3144Asn)
c.9502G>A (p.Asp3168Asn)
c.9223G>A (p.Asp3075Asn)
c.9007G>A (p.Asp3003Asn)
c.9148G>A (p.Asp3050Asn)
c.9097G>A (p.Asp3033Asn)
c.9094G>A (p.Asp3032Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21842339G>ACA670602HSPG2c.8952C>T (p.Ala2984=)
c.8955C>T (p.Ala2985=)
c.9498C>T (p.Ala3166=)
c.9450C>T (p.Ala3150=)
c.9429C>T (p.Ala3143=)
c.9501C>T (p.Ala3167=)
c.9222C>T (p.Ala3074=)
c.9006C>T (p.Ala3002=)
c.9147C>T (p.Ala3049=)
c.9096C>T (p.Ala3032=)
c.9093C>T (p.Ala3031=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21842339G>CCA670603HSPG2c.8952C>G (p.Ala2984=)
c.8955C>G (p.Ala2985=)
c.9498C>G (p.Ala3166=)
c.9450C>G (p.Ala3150=)
c.9429C>G (p.Ala3143=)
c.9501C>G (p.Ala3167=)
c.9222C>G (p.Ala3074=)
c.9006C>G (p.Ala3002=)
c.9147C>G (p.Ala3049=)
c.9096C>G (p.Ala3032=)
c.9093C>G (p.Ala3031=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842339G=CA1158134080HSPG2c.8952C= (p.Ala2984=)
c.8955C= (p.Ala2985=)
c.9498C= (p.Ala3166=)
c.9450C= (p.Ala3150=)
c.9429C= (p.Ala3143=)
c.9501C= (p.Ala3167=)
c.9222C= (p.Ala3074=)
c.9006C= (p.Ala3002=)
c.9147C= (p.Ala3049=)
c.9096C= (p.Ala3032=)
c.9093C= (p.Ala3031=)
1g.21842339G>TCA416679371HSPG2c.8952C>A (p.Ala2984=)
c.8955C>A (p.Ala2985=)
c.9498C>A (p.Ala3166=)
c.9450C>A (p.Ala3150=)
c.9429C>A (p.Ala3143=)
c.9501C>A (p.Ala3167=)
c.9222C>A (p.Ala3074=)
c.9006C>A (p.Ala3002=)
c.9147C>A (p.Ala3049=)
c.9096C>A (p.Ala3032=)
c.9093C>A (p.Ala3031=)
1g.21842340G>ACA338915911HSPG2c.8951C>T (p.Ala2984Val)
c.8954C>T (p.Ala2985Val)
c.9497C>T (p.Ala3166Val)
c.9449C>T (p.Ala3150Val)
c.9428C>T (p.Ala3143Val)
c.9500C>T (p.Ala3167Val)
c.9221C>T (p.Ala3074Val)
c.9005C>T (p.Ala3002Val)
c.9146C>T (p.Ala3049Val)
c.9095C>T (p.Ala3032Val)
c.9092C>T (p.Ala3031Val)
 dbSNP gnomAD v2 gnomAD v4
1g.21842340G>CCA338915914HSPG2c.8951C>G (p.Ala2984Gly)
c.8954C>G (p.Ala2985Gly)
c.9497C>G (p.Ala3166Gly)
c.9449C>G (p.Ala3150Gly)
c.9428C>G (p.Ala3143Gly)
c.9500C>G (p.Ala3167Gly)
c.9221C>G (p.Ala3074Gly)
c.9005C>G (p.Ala3002Gly)
c.9146C>G (p.Ala3049Gly)
c.9095C>G (p.Ala3032Gly)
c.9092C>G (p.Ala3031Gly)
1g.21842340G=CA1158134081HSPG2c.8951C= (p.Ala2984=)
c.8954C= (p.Ala2985=)
c.9497C= (p.Ala3166=)
c.9449C= (p.Ala3150=)
c.9428C= (p.Ala3143=)
c.9500C= (p.Ala3167=)
c.9221C= (p.Ala3074=)
c.9005C= (p.Ala3002=)
c.9146C= (p.Ala3049=)
c.9095C= (p.Ala3032=)
c.9092C= (p.Ala3031=)
1g.21842340G>TCA338915916HSPG2c.8951C>A (p.Ala2984Asp)
c.8954C>A (p.Ala2985Asp)
c.9497C>A (p.Ala3166Asp)
c.9449C>A (p.Ala3150Asp)
c.9428C>A (p.Ala3143Asp)
c.9500C>A (p.Ala3167Asp)
c.9221C>A (p.Ala3074Asp)
c.9005C>A (p.Ala3002Asp)
c.9146C>A (p.Ala3049Asp)
c.9095C>A (p.Ala3032Asp)
c.9092C>A (p.Ala3031Asp)
1g.21842341C>ACA338915918HSPG2c.8950G>T (p.Ala2984Ser)
c.8953G>T (p.Ala2985Ser)
c.9496G>T (p.Ala3166Ser)
c.9448G>T (p.Ala3150Ser)
c.9427G>T (p.Ala3143Ser)
c.9499G>T (p.Ala3167Ser)
c.9220G>T (p.Ala3074Ser)
c.9004G>T (p.Ala3002Ser)
c.9145G>T (p.Ala3049Ser)
c.9094G>T (p.Ala3032Ser)
c.9091G>T (p.Ala3031Ser)
 dbSNP
1g.21842341C=CA1158134082HSPG2c.8950G= (p.Ala2984=)
c.8953G= (p.Ala2985=)
c.9496G= (p.Ala3166=)
c.9448G= (p.Ala3150=)
c.9427G= (p.Ala3143=)
c.9499G= (p.Ala3167=)
c.9220G= (p.Ala3074=)
c.9004G= (p.Ala3002=)
c.9145G= (p.Ala3049=)
c.9094G= (p.Ala3032=)
c.9091G= (p.Ala3031=)
1g.21842341C>GCA338915920HSPG2c.8950G>C (p.Ala2984Pro)
c.8953G>C (p.Ala2985Pro)
c.9496G>C (p.Ala3166Pro)
c.9448G>C (p.Ala3150Pro)
c.9427G>C (p.Ala3143Pro)
c.9499G>C (p.Ala3167Pro)
c.9220G>C (p.Ala3074Pro)
c.9004G>C (p.Ala3002Pro)
c.9145G>C (p.Ala3049Pro)
c.9094G>C (p.Ala3032Pro)
c.9091G>C (p.Ala3031Pro)
1g.21842341C>TCA338915922HSPG2c.8950G>A (p.Ala2984Thr)
c.8953G>A (p.Ala2985Thr)
c.9496G>A (p.Ala3166Thr)
c.9448G>A (p.Ala3150Thr)
c.9427G>A (p.Ala3143Thr)
c.9499G>A (p.Ala3167Thr)
c.9220G>A (p.Ala3074Thr)
c.9004G>A (p.Ala3002Thr)
c.9145G>A (p.Ala3049Thr)
c.9094G>A (p.Ala3032Thr)
c.9091G>A (p.Ala3031Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.21842342A=CA1158134083HSPG2c.8949T= (p.Pro2983=)
c.8952T= (p.Pro2984=)
c.9495T= (p.Pro3165=)
c.9447T= (p.Pro3149=)
c.9426T= (p.Pro3142=)
c.9498T= (p.Pro3166=)
c.9219T= (p.Pro3073=)
c.9003T= (p.Pro3001=)
c.9144T= (p.Pro3048=)
c.9093T= (p.Pro3031=)
c.9090T= (p.Pro3030=)
1g.21842342A>CCA416679376HSPG2c.8949T>G (p.Pro2983=)
c.8952T>G (p.Pro2984=)
c.9495T>G (p.Pro3165=)
c.9447T>G (p.Pro3149=)
c.9426T>G (p.Pro3142=)
c.9498T>G (p.Pro3166=)
c.9219T>G (p.Pro3073=)
c.9003T>G (p.Pro3001=)
c.9144T>G (p.Pro3048=)
c.9093T>G (p.Pro3031=)
c.9090T>G (p.Pro3030=)
1g.21842342A>GCA416679375HSPG2c.8949T>C (p.Pro2983=)
c.8952T>C (p.Pro2984=)
c.9495T>C (p.Pro3165=)
c.9447T>C (p.Pro3149=)
c.9426T>C (p.Pro3142=)
c.9498T>C (p.Pro3166=)
c.9219T>C (p.Pro3073=)
c.9003T>C (p.Pro3001=)
c.9144T>C (p.Pro3048=)
c.9093T>C (p.Pro3031=)
c.9090T>C (p.Pro3030=)
 dbSNP
1g.21842342A>TCA416679377HSPG2c.8949T>A (p.Pro2983=)
c.8952T>A (p.Pro2984=)
c.9495T>A (p.Pro3165=)
c.9447T>A (p.Pro3149=)
c.9426T>A (p.Pro3142=)
c.9498T>A (p.Pro3166=)
c.9219T>A (p.Pro3073=)
c.9003T>A (p.Pro3001=)
c.9144T>A (p.Pro3048=)
c.9093T>A (p.Pro3031=)
c.9090T>A (p.Pro3030=)
1g.21842343G>ACA338915926HSPG2c.8948C>T (p.Pro2983Leu)
c.8951C>T (p.Pro2984Leu)
c.9494C>T (p.Pro3165Leu)
c.9446C>T (p.Pro3149Leu)
c.9425C>T (p.Pro3142Leu)
c.9497C>T (p.Pro3166Leu)
c.9218C>T (p.Pro3073Leu)
c.9002C>T (p.Pro3001Leu)
c.9143C>T (p.Pro3048Leu)
c.9092C>T (p.Pro3031Leu)
c.9089C>T (p.Pro3030Leu)
 gnomAD v4
1g.21842343G>CCA338915927HSPG2c.8948C>G (p.Pro2983Arg)
c.8951C>G (p.Pro2984Arg)
c.9494C>G (p.Pro3165Arg)
c.9446C>G (p.Pro3149Arg)
c.9425C>G (p.Pro3142Arg)
c.9497C>G (p.Pro3166Arg)
c.9218C>G (p.Pro3073Arg)
c.9002C>G (p.Pro3001Arg)
c.9143C>G (p.Pro3048Arg)
c.9092C>G (p.Pro3031Arg)
c.9089C>G (p.Pro3030Arg)
 gnomAD v4
1g.21842343G>TCA338915924HSPG2c.8948C>A (p.Pro2983His)
c.8951C>A (p.Pro2984His)
c.9494C>A (p.Pro3165His)
c.9446C>A (p.Pro3149His)
c.9425C>A (p.Pro3142His)
c.9497C>A (p.Pro3166His)
c.9218C>A (p.Pro3073His)
c.9002C>A (p.Pro3001His)
c.9143C>A (p.Pro3048His)
c.9092C>A (p.Pro3031His)
c.9089C>A (p.Pro3030His)
1g.21842344G>ACA338915929HSPG2c.8947C>T (p.Pro2983Ser)
c.8950C>T (p.Pro2984Ser)
c.9493C>T (p.Pro3165Ser)
c.9445C>T (p.Pro3149Ser)
c.9424C>T (p.Pro3142Ser)
c.9496C>T (p.Pro3166Ser)
c.9217C>T (p.Pro3073Ser)
c.9001C>T (p.Pro3001Ser)
c.9142C>T (p.Pro3048Ser)
c.9091C>T (p.Pro3031Ser)
c.9088C>T (p.Pro3030Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.21842344G>CCA338915931HSPG2c.8947C>G (p.Pro2983Ala)
c.8950C>G (p.Pro2984Ala)
c.9493C>G (p.Pro3165Ala)
c.9445C>G (p.Pro3149Ala)
c.9424C>G (p.Pro3142Ala)
c.9496C>G (p.Pro3166Ala)
c.9217C>G (p.Pro3073Ala)
c.9001C>G (p.Pro3001Ala)
c.9142C>G (p.Pro3048Ala)
c.9091C>G (p.Pro3031Ala)
c.9088C>G (p.Pro3030Ala)
 dbSNP
1g.21842344G=CA1158134084HSPG2c.8947C= (p.Pro2983=)
c.8950C= (p.Pro2984=)
c.9493C= (p.Pro3165=)
c.9445C= (p.Pro3149=)
c.9424C= (p.Pro3142=)
c.9496C= (p.Pro3166=)
c.9217C= (p.Pro3073=)
c.9001C= (p.Pro3001=)
c.9142C= (p.Pro3048=)
c.9091C= (p.Pro3031=)
c.9088C= (p.Pro3030=)
1g.21842344G>TCA338915933HSPG2c.8947C>A (p.Pro2983Thr)
c.8950C>A (p.Pro2984Thr)
c.9493C>A (p.Pro3165Thr)
c.9445C>A (p.Pro3149Thr)
c.9424C>A (p.Pro3142Thr)
c.9496C>A (p.Pro3166Thr)
c.9217C>A (p.Pro3073Thr)
c.9001C>A (p.Pro3001Thr)
c.9142C>A (p.Pro3048Thr)
c.9091C>A (p.Pro3031Thr)
c.9088C>A (p.Pro3030Thr)
 gnomAD v4
1g.21842345G>ACA416679384HSPG2c.8946C>T (p.Ser2982=)
c.8949C>T (p.Ser2983=)
c.9492C>T (p.Ser3164=)
c.9444C>T (p.Ser3148=)
c.9423C>T (p.Ser3141=)
c.9495C>T (p.Ser3165=)
c.9216C>T (p.Ser3072=)
c.9000C>T (p.Ser3000=)
c.9141C>T (p.Ser3047=)
c.9090C>T (p.Ser3030=)
c.9087C>T (p.Ser3029=)
 dbSNP gnomAD v3 gnomAD v4
1g.21842345G>CCA19108477HSPG2c.8946C>G (p.Ser2982=)
c.8949C>G (p.Ser2983=)
c.9492C>G (p.Ser3164=)
c.9444C>G (p.Ser3148=)
c.9423C>G (p.Ser3141=)
c.9495C>G (p.Ser3165=)
c.9216C>G (p.Ser3072=)
c.9000C>G (p.Ser3000=)
c.9141C>G (p.Ser3047=)
c.9090C>G (p.Ser3030=)
c.9087C>G (p.Ser3029=)
 dbSNP
1g.21842345G=CA1158134085HSPG2c.8946C= (p.Ser2982=)
c.8949C= (p.Ser2983=)
c.9492C= (p.Ser3164=)
c.9444C= (p.Ser3148=)
c.9423C= (p.Ser3141=)
c.9495C= (p.Ser3165=)
c.9216C= (p.Ser3072=)
c.9000C= (p.Ser3000=)
c.9141C= (p.Ser3047=)
c.9090C= (p.Ser3030=)
c.9087C= (p.Ser3029=)
1g.21842345G>TCA416679385HSPG2c.8946C>A (p.Ser2982=)
c.8949C>A (p.Ser2983=)
c.9492C>A (p.Ser3164=)
c.9444C>A (p.Ser3148=)
c.9423C>A (p.Ser3141=)
c.9495C>A (p.Ser3165=)
c.9216C>A (p.Ser3072=)
c.9000C>A (p.Ser3000=)
c.9141C>A (p.Ser3047=)
c.9090C>A (p.Ser3030=)
c.9087C>A (p.Ser3029=)
1g.21842346G>ACA19108479HSPG2c.8945C>T (p.Ser2982Phe)
c.8948C>T (p.Ser2983Phe)
c.9491C>T (p.Ser3164Phe)
c.9443C>T (p.Ser3148Phe)
c.9422C>T (p.Ser3141Phe)
c.9494C>T (p.Ser3165Phe)
c.9215C>T (p.Ser3072Phe)
c.8999C>T (p.Ser3000Phe)
c.9140C>T (p.Ser3047Phe)
c.9089C>T (p.Ser3030Phe)
c.9086C>T (p.Ser3029Phe)
 dbSNP
1g.21842346G>CCA338915936HSPG2c.8945C>G (p.Ser2982Cys)
c.8948C>G (p.Ser2983Cys)
c.9491C>G (p.Ser3164Cys)
c.9443C>G (p.Ser3148Cys)
c.9422C>G (p.Ser3141Cys)
c.9494C>G (p.Ser3165Cys)
c.9215C>G (p.Ser3072Cys)
c.8999C>G (p.Ser3000Cys)
c.9140C>G (p.Ser3047Cys)
c.9089C>G (p.Ser3030Cys)
c.9086C>G (p.Ser3029Cys)
 gnomAD v4
1g.21842346G=CA1158134086HSPG2c.8945C= (p.Ser2982=)
c.8948C= (p.Ser2983=)
c.9491C= (p.Ser3164=)
c.9443C= (p.Ser3148=)
c.9422C= (p.Ser3141=)
c.9494C= (p.Ser3165=)
c.9215C= (p.Ser3072=)
c.8999C= (p.Ser3000=)
c.9140C= (p.Ser3047=)
c.9089C= (p.Ser3030=)
c.9086C= (p.Ser3029=)
1g.21842346G>TCA338915937HSPG2c.8945C>A (p.Ser2982Tyr)
c.8948C>A (p.Ser2983Tyr)
c.9491C>A (p.Ser3164Tyr)
c.9443C>A (p.Ser3148Tyr)
c.9422C>A (p.Ser3141Tyr)
c.9494C>A (p.Ser3165Tyr)
c.9215C>A (p.Ser3072Tyr)
c.8999C>A (p.Ser3000Tyr)
c.9140C>A (p.Ser3047Tyr)
c.9089C>A (p.Ser3030Tyr)
c.9086C>A (p.Ser3029Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.21842347A>CCA338915939HSPG2c.8944T>G (p.Ser2982Ala)
c.8947T>G (p.Ser2983Ala)
c.9490T>G (p.Ser3164Ala)
c.9442T>G (p.Ser3148Ala)
c.9421T>G (p.Ser3141Ala)
c.9493T>G (p.Ser3165Ala)
c.9214T>G (p.Ser3072Ala)
c.8998T>G (p.Ser3000Ala)
c.9139T>G (p.Ser3047Ala)
c.9088T>G (p.Ser3030Ala)
c.9085T>G (p.Ser3029Ala)
1g.21842347A>GCA338915941HSPG2c.8944T>C (p.Ser2982Pro)
c.8947T>C (p.Ser2983Pro)
c.9490T>C (p.Ser3164Pro)
c.9442T>C (p.Ser3148Pro)
c.9421T>C (p.Ser3141Pro)
c.9493T>C (p.Ser3165Pro)
c.9214T>C (p.Ser3072Pro)
c.8998T>C (p.Ser3000Pro)
c.9139T>C (p.Ser3047Pro)
c.9088T>C (p.Ser3030Pro)
c.9085T>C (p.Ser3029Pro)
 gnomAD v4
1g.21842347A>TCA338915943HSPG2c.8944T>A (p.Ser2982Thr)
c.8947T>A (p.Ser2983Thr)
c.9490T>A (p.Ser3164Thr)
c.9442T>A (p.Ser3148Thr)
c.9421T>A (p.Ser3141Thr)
c.9493T>A (p.Ser3165Thr)
c.9214T>A (p.Ser3072Thr)
c.8998T>A (p.Ser3000Thr)
c.9139T>A (p.Ser3047Thr)
c.9088T>A (p.Ser3030Thr)
c.9085T>A (p.Ser3029Thr)
1g.21842348G>ACA416679388HSPG2c.8943C>T (p.Val2981=)
c.8946C>T (p.Val2982=)
c.9489C>T (p.Val3163=)
c.9441C>T (p.Val3147=)
c.9420C>T (p.Val3140=)
c.9492C>T (p.Val3164=)
c.9213C>T (p.Val3071=)
c.8997C>T (p.Val2999=)
c.9138C>T (p.Val3046=)
c.9087C>T (p.Val3029=)
c.9084C>T (p.Val3028=)
 dbSNP gnomAD v2 gnomAD v4
1g.21842348G>CCA416679390HSPG2c.8943C>G (p.Val2981=)
c.8946C>G (p.Val2982=)
c.9489C>G (p.Val3163=)
c.9441C>G (p.Val3147=)
c.9420C>G (p.Val3140=)
c.9492C>G (p.Val3164=)
c.9213C>G (p.Val3071=)
c.8997C>G (p.Val2999=)
c.9138C>G (p.Val3046=)
c.9087C>G (p.Val3029=)
c.9084C>G (p.Val3028=)
1g.21842348G=CA1158134087HSPG2c.8943C= (p.Val2981=)
c.8946C= (p.Val2982=)
c.9489C= (p.Val3163=)
c.9441C= (p.Val3147=)
c.9420C= (p.Val3140=)
c.9492C= (p.Val3164=)
c.9213C= (p.Val3071=)
c.8997C= (p.Val2999=)
c.9138C= (p.Val3046=)
c.9087C= (p.Val3029=)
c.9084C= (p.Val3028=)
1g.21842348G>TCA416679389HSPG2c.8943C>A (p.Val2981=)
c.8946C>A (p.Val2982=)
c.9489C>A (p.Val3163=)
c.9441C>A (p.Val3147=)
c.9420C>A (p.Val3140=)
c.9492C>A (p.Val3164=)
c.9213C>A (p.Val3071=)
c.8997C>A (p.Val2999=)
c.9138C>A (p.Val3046=)
c.9087C>A (p.Val3029=)
c.9084C>A (p.Val3028=)
1g.21842349A>CCA338915945HSPG2c.8942T>G (p.Val2981Gly)
c.8945T>G (p.Val2982Gly)
c.9488T>G (p.Val3163Gly)
c.9440T>G (p.Val3147Gly)
c.9419T>G (p.Val3140Gly)
c.9491T>G (p.Val3164Gly)
c.9212T>G (p.Val3071Gly)
c.8996T>G (p.Val2999Gly)
c.9137T>G (p.Val3046Gly)
c.9086T>G (p.Val3029Gly)
c.9083T>G (p.Val3028Gly)
1g.21842349A>GCA338915946HSPG2c.8942T>C (p.Val2981Ala)
c.8945T>C (p.Val2982Ala)
c.9488T>C (p.Val3163Ala)
c.9440T>C (p.Val3147Ala)
c.9419T>C (p.Val3140Ala)
c.9491T>C (p.Val3164Ala)
c.9212T>C (p.Val3071Ala)
c.8996T>C (p.Val2999Ala)
c.9137T>C (p.Val3046Ala)
c.9086T>C (p.Val3029Ala)
c.9083T>C (p.Val3028Ala)
 gnomAD v4
1g.21842349A>TCA338915948HSPG2c.8942T>A (p.Val2981Asp)
c.8945T>A (p.Val2982Asp)
c.9488T>A (p.Val3163Asp)
c.9440T>A (p.Val3147Asp)
c.9419T>A (p.Val3140Asp)
c.9491T>A (p.Val3164Asp)
c.9212T>A (p.Val3071Asp)
c.8996T>A (p.Val2999Asp)
c.9137T>A (p.Val3046Asp)
c.9086T>A (p.Val3029Asp)
c.9083T>A (p.Val3028Asp)
1g.21842350C>ACA338915950HSPG2c.8941G>T (p.Val2981Phe)
c.8944G>T (p.Val2982Phe)
c.9487G>T (p.Val3163Phe)
c.9439G>T (p.Val3147Phe)
c.9418G>T (p.Val3140Phe)
c.9490G>T (p.Val3164Phe)
c.9211G>T (p.Val3071Phe)
c.8995G>T (p.Val2999Phe)
c.9136G>T (p.Val3046Phe)
c.9085G>T (p.Val3029Phe)
c.9082G>T (p.Val3028Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21842350C=CA1139921406HSPG2c.8941G= (p.Val2981=)
c.8944G= (p.Val2982=)
c.9487G= (p.Val3163=)
c.9439G= (p.Val3147=)
c.9418G= (p.Val3140=)
c.9490G= (p.Val3164=)
c.9211G= (p.Val3071=)
c.8995G= (p.Val2999=)
c.9136G= (p.Val3046=)
c.9085G= (p.Val3029=)
c.9082G= (p.Val3028=)
1g.21842350C>GCA338915951HSPG2c.8941G>C (p.Val2981Leu)
c.8944G>C (p.Val2982Leu)
c.9487G>C (p.Val3163Leu)
c.9439G>C (p.Val3147Leu)
c.9418G>C (p.Val3140Leu)
c.9490G>C (p.Val3164Leu)
c.9211G>C (p.Val3071Leu)
c.8995G>C (p.Val2999Leu)
c.9136G>C (p.Val3046Leu)
c.9085G>C (p.Val3029Leu)
c.9082G>C (p.Val3028Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.21842350C>TCA670604HSPG2c.8941G>A (p.Val2981Ile)
c.8944G>A (p.Val2982Ile)
c.9487G>A (p.Val3163Ile)
c.9439G>A (p.Val3147Ile)
c.9418G>A (p.Val3140Ile)
c.9490G>A (p.Val3164Ile)
c.9211G>A (p.Val3071Ile)
c.8995G>A (p.Val2999Ile)
c.9136G>A (p.Val3046Ile)
c.9085G>A (p.Val3029Ile)
c.9082G>A (p.Val3028Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842351G>ACA670605HSPG2c.8940C>T (p.Leu2980=)
c.8943C>T (p.Leu2981=)
c.9486C>T (p.Leu3162=)
c.9438C>T (p.Leu3146=)
c.9417C>T (p.Leu3139=)
c.9489C>T (p.Leu3163=)
c.9210C>T (p.Leu3070=)
c.8994C>T (p.Leu2998=)
c.9135C>T (p.Leu3045=)
c.9084C>T (p.Leu3028=)
c.9081C>T (p.Leu3027=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842351G>CCA416679392HSPG2c.8940C>G (p.Leu2980=)
c.8943C>G (p.Leu2981=)
c.9486C>G (p.Leu3162=)
c.9438C>G (p.Leu3146=)
c.9417C>G (p.Leu3139=)
c.9489C>G (p.Leu3163=)
c.9210C>G (p.Leu3070=)
c.8994C>G (p.Leu2998=)
c.9135C>G (p.Leu3045=)
c.9084C>G (p.Leu3028=)
c.9081C>G (p.Leu3027=)
 gnomAD v4
1g.21842351G=CA1158134088HSPG2c.8940C= (p.Leu2980=)
c.8943C= (p.Leu2981=)
c.9486C= (p.Leu3162=)
c.9438C= (p.Leu3146=)
c.9417C= (p.Leu3139=)
c.9489C= (p.Leu3163=)
c.9210C= (p.Leu3070=)
c.8994C= (p.Leu2998=)
c.9135C= (p.Leu3045=)
c.9084C= (p.Leu3028=)
c.9081C= (p.Leu3027=)
1g.21842351G>TCA416679394HSPG2c.8940C>A (p.Leu2980=)
c.8943C>A (p.Leu2981=)
c.9486C>A (p.Leu3162=)
c.9438C>A (p.Leu3146=)
c.9417C>A (p.Leu3139=)
c.9489C>A (p.Leu3163=)
c.9210C>A (p.Leu3070=)
c.8994C>A (p.Leu2998=)
c.9135C>A (p.Leu3045=)
c.9084C>A (p.Leu3028=)
c.9081C>A (p.Leu3027=)
1g.21842352A=CA1139921407HSPG2c.8939T= (p.Leu2980=)
c.8942T= (p.Leu2981=)
c.9485T= (p.Leu3162=)
c.9437T= (p.Leu3146=)
c.9416T= (p.Leu3139=)
c.9488T= (p.Leu3163=)
c.9209T= (p.Leu3070=)
c.8993T= (p.Leu2998=)
c.9134T= (p.Leu3045=)
c.9083T= (p.Leu3028=)
c.9080T= (p.Leu3027=)
1g.21842352A>CCA338915955HSPG2c.8939T>G (p.Leu2980Arg)
c.8942T>G (p.Leu2981Arg)
c.9485T>G (p.Leu3162Arg)
c.9437T>G (p.Leu3146Arg)
c.9416T>G (p.Leu3139Arg)
c.9488T>G (p.Leu3163Arg)
c.9209T>G (p.Leu3070Arg)
c.8993T>G (p.Leu2998Arg)
c.9134T>G (p.Leu3045Arg)
c.9083T>G (p.Leu3028Arg)
c.9080T>G (p.Leu3027Arg)
1g.21842352A>GCA338915957HSPG2c.8939T>C (p.Leu2980Pro)
c.8942T>C (p.Leu2981Pro)
c.9485T>C (p.Leu3162Pro)
c.9437T>C (p.Leu3146Pro)
c.9416T>C (p.Leu3139Pro)
c.9488T>C (p.Leu3163Pro)
c.9209T>C (p.Leu3070Pro)
c.8993T>C (p.Leu2998Pro)
c.9134T>C (p.Leu3045Pro)
c.9083T>C (p.Leu3028Pro)
c.9080T>C (p.Leu3027Pro)
1g.21842352A>TCA670606HSPG2c.8939T>A (p.Leu2980His)
c.8942T>A (p.Leu2981His)
c.9485T>A (p.Leu3162His)
c.9437T>A (p.Leu3146His)
c.9416T>A (p.Leu3139His)
c.9488T>A (p.Leu3163His)
c.9209T>A (p.Leu3070His)
c.8993T>A (p.Leu2998His)
c.9134T>A (p.Leu3045His)
c.9083T>A (p.Leu3028His)
c.9080T>A (p.Leu3027His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21842353G>ACA338915960HSPG2c.8938C>T (p.Leu2980Phe)
c.8941C>T (p.Leu2981Phe)
c.9484C>T (p.Leu3162Phe)
c.9436C>T (p.Leu3146Phe)
c.9415C>T (p.Leu3139Phe)
c.9487C>T (p.Leu3163Phe)
c.9208C>T (p.Leu3070Phe)
c.8992C>T (p.Leu2998Phe)
c.9133C>T (p.Leu3045Phe)
c.9082C>T (p.Leu3028Phe)
c.9079C>T (p.Leu3027Phe)
1g.21842353G>CCA338915962HSPG2c.8938C>G (p.Leu2980Val)
c.8941C>G (p.Leu2981Val)
c.9484C>G (p.Leu3162Val)
c.9436C>G (p.Leu3146Val)
c.9415C>G (p.Leu3139Val)
c.9487C>G (p.Leu3163Val)
c.9208C>G (p.Leu3070Val)
c.8992C>G (p.Leu2998Val)
c.9133C>G (p.Leu3045Val)
c.9082C>G (p.Leu3028Val)
c.9079C>G (p.Leu3027Val)
1g.21842353G>TCA338915964HSPG2c.8938C>A (p.Leu2980Ile)
c.8941C>A (p.Leu2981Ile)
c.9484C>A (p.Leu3162Ile)
c.9436C>A (p.Leu3146Ile)
c.9415C>A (p.Leu3139Ile)
c.9487C>A (p.Leu3163Ile)
c.9208C>A (p.Leu3070Ile)
c.8992C>A (p.Leu2998Ile)
c.9133C>A (p.Leu3045Ile)
c.9082C>A (p.Leu3028Ile)
c.9079C>A (p.Leu3027Ile)
1g.21842354G>ACA416679400HSPG2c.8937C>T (p.His2979=)
c.8940C>T (p.His2980=)
c.9483C>T (p.His3161=)
c.9435C>T (p.His3145=)
c.9414C>T (p.His3138=)
c.9486C>T (p.His3162=)
c.9207C>T (p.His3069=)
c.8991C>T (p.His2997=)
c.9132C>T (p.His3044=)
c.9081C>T (p.His3027=)
c.9078C>T (p.His3026=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21842354G>CCA338915966HSPG2c.8937C>G (p.His2979Gln)
c.8940C>G (p.His2980Gln)
c.9483C>G (p.His3161Gln)
c.9435C>G (p.His3145Gln)
c.9414C>G (p.His3138Gln)
c.9486C>G (p.His3162Gln)
c.9207C>G (p.His3069Gln)
c.8991C>G (p.His2997Gln)
c.9132C>G (p.His3044Gln)
c.9081C>G (p.His3027Gln)
c.9078C>G (p.His3026Gln)
1g.21842354G=CA1158134089HSPG2c.8937C= (p.His2979=)
c.8940C= (p.His2980=)
c.9483C= (p.His3161=)
c.9435C= (p.His3145=)
c.9414C= (p.His3138=)
c.9486C= (p.His3162=)
c.9207C= (p.His3069=)
c.8991C= (p.His2997=)
c.9132C= (p.His3044=)
c.9081C= (p.His3027=)
c.9078C= (p.His3026=)
1g.21842354G>TCA338915967HSPG2c.8937C>A (p.His2979Gln)
c.8940C>A (p.His2980Gln)
c.9483C>A (p.His3161Gln)
c.9435C>A (p.His3145Gln)
c.9414C>A (p.His3138Gln)
c.9486C>A (p.His3162Gln)
c.9207C>A (p.His3069Gln)
c.8991C>A (p.His2997Gln)
c.9132C>A (p.His3044Gln)
c.9081C>A (p.His3027Gln)
c.9078C>A (p.His3026Gln)
1g.21842355T>ACA338915970HSPG2c.8936A>T (p.His2979Leu)
c.8939A>T (p.His2980Leu)
c.9482A>T (p.His3161Leu)
c.9434A>T (p.His3145Leu)
c.9413A>T (p.His3138Leu)
c.9485A>T (p.His3162Leu)
c.9206A>T (p.His3069Leu)
c.8990A>T (p.His2997Leu)
c.9131A>T (p.His3044Leu)
c.9080A>T (p.His3027Leu)
c.9077A>T (p.His3026Leu)
 dbSNP gnomAD v4
1g.21842355T>CCA19108501HSPG2c.8936A>G (p.His2979Arg)
c.8939A>G (p.His2980Arg)
c.9482A>G (p.His3161Arg)
c.9434A>G (p.His3145Arg)
c.9413A>G (p.His3138Arg)
c.9485A>G (p.His3162Arg)
c.9206A>G (p.His3069Arg)
c.8990A>G (p.His2997Arg)
c.9131A>G (p.His3044Arg)
c.9080A>G (p.His3027Arg)
c.9077A>G (p.His3026Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21842355T>GCA338915972HSPG2c.8936A>C (p.His2979Pro)
c.8939A>C (p.His2980Pro)
c.9482A>C (p.His3161Pro)
c.9434A>C (p.His3145Pro)
c.9413A>C (p.His3138Pro)
c.9485A>C (p.His3162Pro)
c.9206A>C (p.His3069Pro)
c.8990A>C (p.His2997Pro)
c.9131A>C (p.His3044Pro)
c.9080A>C (p.His3027Pro)
c.9077A>C (p.His3026Pro)
 dbSNP gnomAD v2
1g.21842355T=CA1158134090HSPG2c.8936A= (p.His2979=)
c.8939A= (p.His2980=)
c.9482A= (p.His3161=)
c.9434A= (p.His3145=)
c.9413A= (p.His3138=)
c.9485A= (p.His3162=)
c.9206A= (p.His3069=)
c.8990A= (p.His2997=)
c.9131A= (p.His3044=)
c.9080A= (p.His3027=)
c.9077A= (p.His3026=)
1g.21842356G>ACA338915974HSPG2c.8935C>T (p.His2979Tyr)
c.8938C>T (p.His2980Tyr)
c.9481C>T (p.His3161Tyr)
c.9433C>T (p.His3145Tyr)
c.9412C>T (p.His3138Tyr)
c.9484C>T (p.His3162Tyr)
c.9205C>T (p.His3069Tyr)
c.8989C>T (p.His2997Tyr)
c.9130C>T (p.His3044Tyr)
c.9079C>T (p.His3027Tyr)
c.9076C>T (p.His3026Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21842356G>CCA338915976HSPG2c.8935C>G (p.His2979Asp)
c.8938C>G (p.His2980Asp)
c.9481C>G (p.His3161Asp)
c.9433C>G (p.His3145Asp)
c.9412C>G (p.His3138Asp)
c.9484C>G (p.His3162Asp)
c.9205C>G (p.His3069Asp)
c.8989C>G (p.His2997Asp)
c.9130C>G (p.His3044Asp)
c.9079C>G (p.His3027Asp)
c.9076C>G (p.His3026Asp)
1g.21842356G=CA1158134091HSPG2c.8935C= (p.His2979=)
c.8938C= (p.His2980=)
c.9481C= (p.His3161=)
c.9433C= (p.His3145=)
c.9412C= (p.His3138=)
c.9484C= (p.His3162=)
c.9205C= (p.His3069=)
c.8989C= (p.His2997=)
c.9130C= (p.His3044=)
c.9079C= (p.His3027=)
c.9076C= (p.His3026=)
1g.21842356G>TCA338915978HSPG2c.8935C>A (p.His2979Asn)
c.8938C>A (p.His2980Asn)
c.9481C>A (p.His3161Asn)
c.9433C>A (p.His3145Asn)
c.9412C>A (p.His3138Asn)
c.9484C>A (p.His3162Asn)
c.9205C>A (p.His3069Asn)
c.8989C>A (p.His2997Asn)
c.9130C>A (p.His3044Asn)
c.9079C>A (p.His3027Asn)
c.9076C>A (p.His3026Asn)
 gnomAD v4
1g.21842357G>ACA416679404HSPG2c.8934C>T (p.Leu2978=)
c.8937C>T (p.Leu2979=)
c.9480C>T (p.Leu3160=)
c.9432C>T (p.Leu3144=)
c.9411C>T (p.Leu3137=)
c.9483C>T (p.Leu3161=)
c.9204C>T (p.Leu3068=)
c.8988C>T (p.Leu2996=)
c.9129C>T (p.Leu3043=)
c.9078C>T (p.Leu3026=)
c.9075C>T (p.Leu3025=)
 dbSNP
1g.21842357G>CCA416679405HSPG2c.8934C>G (p.Leu2978=)
c.8937C>G (p.Leu2979=)
c.9480C>G (p.Leu3160=)
c.9432C>G (p.Leu3144=)
c.9411C>G (p.Leu3137=)
c.9483C>G (p.Leu3161=)
c.9204C>G (p.Leu3068=)
c.8988C>G (p.Leu2996=)
c.9129C>G (p.Leu3043=)
c.9078C>G (p.Leu3026=)
c.9075C>G (p.Leu3025=)
1g.21842357G>TCA416679406HSPG2c.8934C>A (p.Leu2978=)
c.8937C>A (p.Leu2979=)
c.9480C>A (p.Leu3160=)
c.9432C>A (p.Leu3144=)
c.9411C>A (p.Leu3137=)
c.9483C>A (p.Leu3161=)
c.9204C>A (p.Leu3068=)
c.8988C>A (p.Leu2996=)
c.9129C>A (p.Leu3043=)
c.9078C>A (p.Leu3026=)
c.9075C>A (p.Leu3025=)
1g.21842358A>CCA338915980HSPG2c.8933T>G (p.Leu2978Arg)
c.8936T>G (p.Leu2979Arg)
c.9479T>G (p.Leu3160Arg)
c.9431T>G (p.Leu3144Arg)
c.9410T>G (p.Leu3137Arg)
c.9482T>G (p.Leu3161Arg)
c.9203T>G (p.Leu3068Arg)
c.8987T>G (p.Leu2996Arg)
c.9128T>G (p.Leu3043Arg)
c.9077T>G (p.Leu3026Arg)
c.9074T>G (p.Leu3025Arg)
1g.21842358A>GCA338915982HSPG2c.8933T>C (p.Leu2978Pro)
c.8936T>C (p.Leu2979Pro)
c.9479T>C (p.Leu3160Pro)
c.9431T>C (p.Leu3144Pro)
c.9410T>C (p.Leu3137Pro)
c.9482T>C (p.Leu3161Pro)
c.9203T>C (p.Leu3068Pro)
c.8987T>C (p.Leu2996Pro)
c.9128T>C (p.Leu3043Pro)
c.9077T>C (p.Leu3026Pro)
c.9074T>C (p.Leu3025Pro)
 gnomAD v4
1g.21842358A>TCA338915981HSPG2c.8933T>A (p.Leu2978His)
c.8936T>A (p.Leu2979His)
c.9479T>A (p.Leu3160His)
c.9431T>A (p.Leu3144His)
c.9410T>A (p.Leu3137His)
c.9482T>A (p.Leu3161His)
c.9203T>A (p.Leu3068His)
c.8987T>A (p.Leu2996His)
c.9128T>A (p.Leu3043His)
c.9077T>A (p.Leu3026His)
c.9074T>A (p.Leu3025His)
1g.21842359G>ACA338915985HSPG2c.8932C>T (p.Leu2978Phe)
c.8935C>T (p.Leu2979Phe)
c.9478C>T (p.Leu3160Phe)
c.9430C>T (p.Leu3144Phe)
c.9409C>T (p.Leu3137Phe)
c.9481C>T (p.Leu3161Phe)
c.9202C>T (p.Leu3068Phe)
c.8986C>T (p.Leu2996Phe)
c.9127C>T (p.Leu3043Phe)
c.9076C>T (p.Leu3026Phe)
c.9073C>T (p.Leu3025Phe)
1g.21842359G>CCA338915987HSPG2c.8932C>G (p.Leu2978Val)
c.8935C>G (p.Leu2979Val)
c.9478C>G (p.Leu3160Val)
c.9430C>G (p.Leu3144Val)
c.9409C>G (p.Leu3137Val)
c.9481C>G (p.Leu3161Val)
c.9202C>G (p.Leu3068Val)
c.8986C>G (p.Leu2996Val)
c.9127C>G (p.Leu3043Val)
c.9076C>G (p.Leu3026Val)
c.9073C>G (p.Leu3025Val)
1g.21842359G>TCA338915988HSPG2c.8932C>A (p.Leu2978Ile)
c.8935C>A (p.Leu2979Ile)
c.9478C>A (p.Leu3160Ile)
c.9430C>A (p.Leu3144Ile)
c.9409C>A (p.Leu3137Ile)
c.9481C>A (p.Leu3161Ile)
c.9202C>A (p.Leu3068Ile)
c.8986C>A (p.Leu2996Ile)
c.9127C>A (p.Leu3043Ile)
c.9076C>A (p.Leu3026Ile)
c.9073C>A (p.Leu3025Ile)
 gnomAD v4
1g.21842360C>ACA416679412HSPG2c.8931G>T (p.Arg2977=)
c.8934G>T (p.Arg2978=)
c.9477G>T (p.Arg3159=)
c.9429G>T (p.Arg3143=)
c.9408G>T (p.Arg3136=)
c.9480G>T (p.Arg3160=)
c.9201G>T (p.Arg3067=)
c.8985G>T (p.Arg2995=)
c.9126G>T (p.Arg3042=)
c.9075G>T (p.Arg3025=)
c.9072G>T (p.Arg3024=)
1g.21842360C=CA1158134092HSPG2c.8931G= (p.Arg2977=)
c.8934G= (p.Arg2978=)
c.9477G= (p.Arg3159=)
c.9429G= (p.Arg3143=)
c.9408G= (p.Arg3136=)
c.9480G= (p.Arg3160=)
c.9201G= (p.Arg3067=)
c.8985G= (p.Arg2995=)
c.9126G= (p.Arg3042=)
c.9075G= (p.Arg3025=)
c.9072G= (p.Arg3024=)
1g.21842360C>GCA416679408HSPG2c.8931G>C (p.Arg2977=)
c.8934G>C (p.Arg2978=)
c.9477G>C (p.Arg3159=)
c.9429G>C (p.Arg3143=)
c.9408G>C (p.Arg3136=)
c.9480G>C (p.Arg3160=)
c.9201G>C (p.Arg3067=)
c.8985G>C (p.Arg2995=)
c.9126G>C (p.Arg3042=)
c.9075G>C (p.Arg3025=)
c.9072G>C (p.Arg3024=)
1g.21842360C>TCA416679410HSPG2c.8931G>A (p.Arg2977=)
c.8934G>A (p.Arg2978=)
c.9477G>A (p.Arg3159=)
c.9429G>A (p.Arg3143=)
c.9408G>A (p.Arg3136=)
c.9480G>A (p.Arg3160=)
c.9201G>A (p.Arg3067=)
c.8985G>A (p.Arg2995=)
c.9126G>A (p.Arg3042=)
c.9075G>A (p.Arg3025=)
c.9072G>A (p.Arg3024=)
 dbSNP gnomAD v3 gnomAD v4
1g.21842361C>ACA670607HSPG2c.8930G>T (p.Arg2977Leu)
c.8933G>T (p.Arg2978Leu)
c.9476G>T (p.Arg3159Leu)
c.9428G>T (p.Arg3143Leu)
c.9407G>T (p.Arg3136Leu)
c.9479G>T (p.Arg3160Leu)
c.9200G>T (p.Arg3067Leu)
c.8984G>T (p.Arg2995Leu)
c.9125G>T (p.Arg3042Leu)
c.9074G>T (p.Arg3025Leu)
c.9071G>T (p.Arg3024Leu)
 dbSNP ExAC
1g.21842361C=CA1158134093HSPG2c.8930G= (p.Arg2977=)
c.8933G= (p.Arg2978=)
c.9476G= (p.Arg3159=)
c.9428G= (p.Arg3143=)
c.9407G= (p.Arg3136=)
c.9479G= (p.Arg3160=)
c.9200G= (p.Arg3067=)
c.8984G= (p.Arg2995=)
c.9125G= (p.Arg3042=)
c.9074G= (p.Arg3025=)
c.9071G= (p.Arg3024=)
1g.21842361C>GCA338915992HSPG2c.8930G>C (p.Arg2977Pro)
c.8933G>C (p.Arg2978Pro)
c.9476G>C (p.Arg3159Pro)
c.9428G>C (p.Arg3143Pro)
c.9407G>C (p.Arg3136Pro)
c.9479G>C (p.Arg3160Pro)
c.9200G>C (p.Arg3067Pro)
c.8984G>C (p.Arg2995Pro)
c.9125G>C (p.Arg3042Pro)
c.9074G>C (p.Arg3025Pro)
c.9071G>C (p.Arg3024Pro)
1g.21842361C>TCA338915993HSPG2c.8930G>A (p.Arg2977Gln)
c.8933G>A (p.Arg2978Gln)
c.9476G>A (p.Arg3159Gln)
c.9428G>A (p.Arg3143Gln)
c.9407G>A (p.Arg3136Gln)
c.9479G>A (p.Arg3160Gln)
c.9200G>A (p.Arg3067Gln)
c.8984G>A (p.Arg2995Gln)
c.9125G>A (p.Arg3042Gln)
c.9074G>A (p.Arg3025Gln)
c.9071G>A (p.Arg3024Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched