Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21842256_21842258delinsCTG | CA1158134053 | HSPG2 | c.9033_9035delinsCAG (p.Pro3011=) c.9036_9038delinsCAG (p.Pro3012=) c.9579_9581delinsCAG (p.Pro3193=) c.9531_9533delinsCAG (p.Pro3177=) c.9510_9512delinsCAG (p.Pro3170=) c.9582_9584delinsCAG (p.Pro3194=) c.9303_9305delinsCAG (p.Pro3101=) c.9087_9089delinsCAG (p.Pro3029=) c.9228_9230delinsCAG (p.Pro3076=) c.9177_9179delinsCAG (p.Pro3059=) c.9174_9176delinsCAG (p.Pro3058=) | |
1 | g.21842257T>A | CA338915617 | HSPG2 | c.9034A>T (p.Ser3012Cys) c.9037A>T (p.Ser3013Cys) c.9580A>T (p.Ser3194Cys) c.9532A>T (p.Ser3178Cys) c.9511A>T (p.Ser3171Cys) c.9583A>T (p.Ser3195Cys) c.9304A>T (p.Ser3102Cys) c.9088A>T (p.Ser3030Cys) c.9229A>T (p.Ser3077Cys) c.9178A>T (p.Ser3060Cys) c.9175A>T (p.Ser3059Cys) | |
1 | g.21842257T>C | CA338915618 | HSPG2 | c.9034A>G (p.Ser3012Gly) c.9037A>G (p.Ser3013Gly) c.9580A>G (p.Ser3194Gly) c.9532A>G (p.Ser3178Gly) c.9511A>G (p.Ser3171Gly) c.9583A>G (p.Ser3195Gly) c.9304A>G (p.Ser3102Gly) c.9088A>G (p.Ser3030Gly) c.9229A>G (p.Ser3077Gly) c.9178A>G (p.Ser3060Gly) c.9175A>G (p.Ser3059Gly) | |
1 | g.21842257T>G | CA338915620 | HSPG2 | c.9034A>C (p.Ser3012Arg) c.9037A>C (p.Ser3013Arg) c.9580A>C (p.Ser3194Arg) c.9532A>C (p.Ser3178Arg) c.9511A>C (p.Ser3171Arg) c.9583A>C (p.Ser3195Arg) c.9304A>C (p.Ser3102Arg) c.9088A>C (p.Ser3030Arg) c.9229A>C (p.Ser3077Arg) c.9178A>C (p.Ser3060Arg) c.9175A>C (p.Ser3059Arg) | |
1 | g.21842257_21842258del | CA731547771 | HSPG2 | c.9033_9034del (p.Ser3012Ter) c.9036_9037del (p.Ser3013Ter) c.9579_9580del (p.Ser3194Ter) c.9531_9532del (p.Ser3178Ter) c.9510_9511del (p.Ser3171Ter) c.9582_9583del (p.Ser3195Ter) c.9303_9304del (p.Ser3102Ter) c.9087_9088del (p.Ser3030Ter) c.9228_9229del (p.Ser3077Ter) c.9177_9178del (p.Ser3060Ter) c.9174_9175del (p.Ser3059Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21842258G>A | CA670585 | HSPG2 | c.9033C>T (p.Pro3011=) c.9036C>T (p.Pro3012=) c.9579C>T (p.Pro3193=) c.9531C>T (p.Pro3177=) c.9510C>T (p.Pro3170=) c.9582C>T (p.Pro3194=) c.9303C>T (p.Pro3101=) c.9087C>T (p.Pro3029=) c.9228C>T (p.Pro3076=) c.9177C>T (p.Pro3059=) c.9174C>T (p.Pro3058=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21842258G>C | CA416679256 | HSPG2 | c.9033C>G (p.Pro3011=) c.9036C>G (p.Pro3012=) c.9579C>G (p.Pro3193=) c.9531C>G (p.Pro3177=) c.9510C>G (p.Pro3170=) c.9582C>G (p.Pro3194=) c.9303C>G (p.Pro3101=) c.9087C>G (p.Pro3029=) c.9228C>G (p.Pro3076=) c.9177C>G (p.Pro3059=) c.9174C>G (p.Pro3058=) | |
1 | g.21842258G= | CA1158134054 | HSPG2 | c.9033C= (p.Pro3011=) c.9036C= (p.Pro3012=) c.9579C= (p.Pro3193=) c.9531C= (p.Pro3177=) c.9510C= (p.Pro3170=) c.9582C= (p.Pro3194=) c.9303C= (p.Pro3101=) c.9087C= (p.Pro3029=) c.9228C= (p.Pro3076=) c.9177C= (p.Pro3059=) c.9174C= (p.Pro3058=) | |
1 | g.21842258G>T | CA416679257 | HSPG2 | c.9033C>A (p.Pro3011=) c.9036C>A (p.Pro3012=) c.9579C>A (p.Pro3193=) c.9531C>A (p.Pro3177=) c.9510C>A (p.Pro3170=) c.9582C>A (p.Pro3194=) c.9303C>A (p.Pro3101=) c.9087C>A (p.Pro3029=) c.9228C>A (p.Pro3076=) c.9177C>A (p.Pro3059=) c.9174C>A (p.Pro3058=) | |
1 | g.21842260del | CA2586966228 | HSPG2 | c.9033del (p.Ser3012ValfsTer?) c.9036del (p.Ser3013ValfsTer?) c.9579del (p.Ser3194ValfsTer?) c.9531del (p.Ser3178ValfsTer?) c.9510del (p.Ser3171ValfsTer?) c.9582del (p.Ser3195ValfsTer?) c.9303del (p.Ser3102ValfsTer?) c.9087del (p.Ser3030ValfsTer?) c.9228del (p.Ser3077ValfsTer?) c.9177del (p.Ser3060ValfsTer?) c.9174del (p.Ser3059ValfsTer?) | |
1 | g.21842259G>A | CA338915622 | HSPG2 | c.9032C>T (p.Pro3011Leu) c.9035C>T (p.Pro3012Leu) c.9578C>T (p.Pro3193Leu) c.9530C>T (p.Pro3177Leu) c.9509C>T (p.Pro3170Leu) c.9581C>T (p.Pro3194Leu) c.9302C>T (p.Pro3101Leu) c.9086C>T (p.Pro3029Leu) c.9227C>T (p.Pro3076Leu) c.9176C>T (p.Pro3059Leu) c.9173C>T (p.Pro3058Leu) | gnomAD v4 |
1 | g.21842259G>C | CA338915623 | HSPG2 | c.9032C>G (p.Pro3011Arg) c.9035C>G (p.Pro3012Arg) c.9578C>G (p.Pro3193Arg) c.9530C>G (p.Pro3177Arg) c.9509C>G (p.Pro3170Arg) c.9581C>G (p.Pro3194Arg) c.9302C>G (p.Pro3101Arg) c.9086C>G (p.Pro3029Arg) c.9227C>G (p.Pro3076Arg) c.9176C>G (p.Pro3059Arg) c.9173C>G (p.Pro3058Arg) | |
1 | g.21842259G>T | CA338915625 | HSPG2 | c.9032C>A (p.Pro3011His) c.9035C>A (p.Pro3012His) c.9578C>A (p.Pro3193His) c.9530C>A (p.Pro3177His) c.9509C>A (p.Pro3170His) c.9581C>A (p.Pro3194His) c.9302C>A (p.Pro3101His) c.9086C>A (p.Pro3029His) c.9227C>A (p.Pro3076His) c.9176C>A (p.Pro3059His) c.9173C>A (p.Pro3058His) | |
1 | g.21842260G>A | CA338915630 | HSPG2 | c.9031C>T (p.Pro3011Ser) c.9034C>T (p.Pro3012Ser) c.9577C>T (p.Pro3193Ser) c.9529C>T (p.Pro3177Ser) c.9508C>T (p.Pro3170Ser) c.9580C>T (p.Pro3194Ser) c.9301C>T (p.Pro3101Ser) c.9085C>T (p.Pro3029Ser) c.9226C>T (p.Pro3076Ser) c.9175C>T (p.Pro3059Ser) c.9172C>T (p.Pro3058Ser) | |
1 | g.21842260G>C | CA338915629 | HSPG2 | c.9031C>G (p.Pro3011Ala) c.9034C>G (p.Pro3012Ala) c.9577C>G (p.Pro3193Ala) c.9529C>G (p.Pro3177Ala) c.9508C>G (p.Pro3170Ala) c.9580C>G (p.Pro3194Ala) c.9301C>G (p.Pro3101Ala) c.9085C>G (p.Pro3029Ala) c.9226C>G (p.Pro3076Ala) c.9175C>G (p.Pro3059Ala) c.9172C>G (p.Pro3058Ala) | |
1 | g.21842260G>T | CA338915627 | HSPG2 | c.9031C>A (p.Pro3011Thr) c.9034C>A (p.Pro3012Thr) c.9577C>A (p.Pro3193Thr) c.9529C>A (p.Pro3177Thr) c.9508C>A (p.Pro3170Thr) c.9580C>A (p.Pro3194Thr) c.9301C>A (p.Pro3101Thr) c.9085C>A (p.Pro3029Thr) c.9226C>A (p.Pro3076Thr) c.9175C>A (p.Pro3059Thr) c.9172C>A (p.Pro3058Thr) | |
1 | g.21842260_21842261delinsAA | CA2573132173 | HSPG2 | c.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 |
1 | g.21842261C>A | CA416679259 | HSPG2 | c.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=) | |
1 | g.21842261C= | CA1143523501 | HSPG2 | c.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=) | |
1 | g.21842261C>G | CA416679260 | HSPG2 | c.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=) | |
1 | g.21842261C>T | CA670586 | HSPG2 | c.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 |
1 | g.21842262G>A | CA338915636 | HSPG2 | c.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 |
1 | g.21842262G>C | CA338915632 | HSPG2 | c.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 |
1 | g.21842262G= | CA1158134055 | HSPG2 | c.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=) | |
1 | g.21842262G>T | CA338915634 | HSPG2 | c.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) | |
1 | g.21842264del | CA2643962825 | HSPG2 | c.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 |
1 | g.21842263G>A | CA338915637 | HSPG2 | c.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 |
1 | g.21842263G>C | CA338915638 | HSPG2 | c.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) | |
1 | g.21842263G>T | CA338915640 | HSPG2 | c.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) | |
1 | g.21842264G>A | CA416679262 | HSPG2 | c.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=) | |
1 | g.21842264G>C | CA416679264 | HSPG2 | c.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=) | |
1 | g.21842264G>T | CA416679263 | HSPG2 | c.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=) | |
1 | g.21842265A>C | CA338915642 | HSPG2 | c.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) | |
1 | g.21842265A>G | CA338915644 | HSPG2 | c.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 |
1 | g.21842265A>T | CA338915645 | HSPG2 | c.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) | |
1 | g.21842266C>A | CA338915647 | HSPG2 | c.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) | |
1 | g.21842266C= | CA1145626941 | HSPG2 | c.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=) | |
1 | g.21842266C>G | CA338915649 | HSPG2 | c.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) | |
1 | g.21842266C>T | CA670587 | HSPG2 | c.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 |
1 | g.21842267G>A | CA670588 | HSPG2 | c.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 |
1 | g.21842267G>C | CA416679266 | HSPG2 | c.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=) | |
1 | g.21842267G= | CA1158134056 | HSPG2 | c.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=) | |
1 | g.21842267G>T | CA416679265 | HSPG2 | c.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=) | |
1 | g.21842268G>A | CA338915654 | HSPG2 | c.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) | |
1 | g.21842268G>C | CA338915653 | HSPG2 | c.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) | |
1 | g.21842268G>T | CA338915652 | HSPG2 | c.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 |
1 | g.21842269T>A | CA338915656 | HSPG2 | c.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) | |
1 | g.21842269T>C | CA338915658 | HSPG2 | c.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) | |
1 | g.21842269T>G | CA338915660 | HSPG2 | c.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) | |
1 | g.21842270G>A | CA416679270 | HSPG2 | c.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=) | |
1 | g.21842270G>C | CA416679269 | HSPG2 | c.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=) | |
1 | g.21842270G>T | CA416679271 | HSPG2 | c.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=) | |
1 | g.21842271A= | CA1158134058 | HSPG2 | c.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=) | |
1 | g.21842271A>C | CA338915661 | HSPG2 | c.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) | |
1 | g.21842271A>G | CA338915662 | HSPG2 | c.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 |
1 | g.21842271A>T | CA338915664 | HSPG2 | c.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) | |
1 | g.21842271_21842272delinsAC | CA1158134057 | HSPG2 | c.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=) | |
1 | g.21842272del | CA521900371 | HSPG2 | c.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 |
1 | g.21842272C>A | CA338915666 | HSPG2 | c.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) | |
1 | g.21842272C= | CA1158134059 | HSPG2 | c.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=) | |
1 | g.21842272C>G | CA338915668 | HSPG2 | c.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 |
1 | g.21842272C>T | CA670589 | HSPG2 | c.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 |
1 | g.21842273T>A | CA416679275 | HSPG2 | c.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=) | |
1 | g.21842273T>C | CA670590 | HSPG2 | c.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 |
1 | g.21842273T>G | CA416679277 | HSPG2 | c.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=) | |
1 | g.21842273T= | CA1158134060 | HSPG2 | c.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=) | |
1 | g.21842274G>A | CA670591 | HSPG2 | c.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 |
1 | g.21842274G>C | CA338915669 | HSPG2 | c.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) | |
1 | g.21842274G= | CA1144124685 | HSPG2 | c.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=) | |
1 | g.21842274G>T | CA338915671 | HSPG2 | c.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) | |
1 | g.21842275T>A | CA338915675 | HSPG2 | c.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) | |
1 | g.21842275T>C | CA338915674 | HSPG2 | c.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) | |
1 | g.21842275T>G | CA338915672 | HSPG2 | c.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) | |
1 | g.21842276G>A | CA416679278 | HSPG2 | c.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=) | |
1 | g.21842276G>C | CA338915677 | HSPG2 | c.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) | |
1 | g.21842276G>T | CA338915676 | HSPG2 | c.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) | |
1 | g.21842277A>C | CA338915679 | HSPG2 | c.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) | |
1 | g.21842277A>G | CA338915681 | HSPG2 | c.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) | |
1 | g.21842277A>T | CA338915683 | HSPG2 | c.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) | |
1 | g.21842278A>C | CA338915684 | HSPG2 | c.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) | |
1 | g.21842278A>G | CA338915685 | HSPG2 | c.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) | |
1 | g.21842278A>T | CA338915686 | HSPG2 | c.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) | |
1 | g.21842279G>A | CA416679281 | HSPG2 | c.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 |
1 | g.21842279G>C | CA416679282 | HSPG2 | c.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=) | |
1 | g.21842279G>T | CA416679280 | HSPG2 | c.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=) | |
1 | g.21842280G>A | CA19108347 | HSPG2 | c.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 |
1 | g.21842280G>C | CA338915687 | HSPG2 | c.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) | |
1 | g.21842280G= | CA1158134061 | HSPG2 | c.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=) | |
1 | g.21842280G>T | CA338915689 | HSPG2 | c.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) | |
1 | g.21842281A>C | CA338915691 | HSPG2 | c.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) | |
1 | g.21842281A>G | CA338915692 | HSPG2 | c.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) | |
1 | g.21842281A>T | CA338915693 | HSPG2 | c.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) | |
1 | g.21842282G>A | CA670592 | HSPG2 | c.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 |
1 | g.21842282G>C | CA416679284 | HSPG2 | c.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=) | |
1 | g.21842282G= | CA1158134062 | HSPG2 | c.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=) | |
1 | g.21842282G>T | CA416679285 | HSPG2 | c.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=) | |
1 | g.21842283G>A | CA338915699 | HSPG2 | c.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) | |
1 | g.21842283G>C | CA338915697 | HSPG2 | c.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) | |
1 | g.21842283G>T | CA338915695 | HSPG2 | c.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 |
1 | g.21842283_21842284delinsGC | CA1158134063 | HSPG2 | c.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=) | |
1 | g.21842284del | CA1158134064 | HSPG2 | c.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 |
1 | g.21842284C>A | CA338915700 | HSPG2 | c.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) | |
1 | g.21842284C>G | CA338915702 | HSPG2 | c.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) | |
1 | g.21842284C>T | CA338915704 | HSPG2 | c.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) | |
1 | g.21842285T>A | CA338915705 | HSPG2 | c.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) | |
1 | g.21842285T>C | CA416679287 | HSPG2 | c.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=) | |
1 | g.21842285T>G | CA338915706 | HSPG2 | c.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 |
1 | g.21842285T= | CA1158134065 | HSPG2 | c.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=) | |
1 | g.21842286T>A | CA338915708 | HSPG2 | c.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) | |
1 | g.21842286T>C | CA338915710 | HSPG2 | c.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) | |
1 | g.21842286T>G | CA338915711 | HSPG2 | c.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) | |
1 | g.21842287C>A | CA338915713 | HSPG2 | c.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) | |
1 | g.21842287C>G | CA338915714 | HSPG2 | c.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) | |
1 | g.21842287C>T | CA338915716 | HSPG2 | c.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) | |
1 | g.21842288T>A | CA338915717 | HSPG2 | c.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) | |
1 | g.21842288T>C | CA416679289 | HSPG2 | c.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=) | |
1 | g.21842288T>G | CA338915719 | HSPG2 | c.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) | |
1 | g.21842289T>A | CA338915722 | HSPG2 | c.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) | |
1 | g.21842289T>C | CA338915724 | HSPG2 | c.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) | |
1 | g.21842289T>G | CA338915721 | HSPG2 | c.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) | |
1 | g.21842290G>A | CA338915726 | HSPG2 | c.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) | |
1 | g.21842290G>C | CA338915729 | HSPG2 | c.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) | |
1 | g.21842290G>T | CA338915727 | HSPG2 | c.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) | |
1 | g.21842291C>A | CA338915730 | HSPG2 | c.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) | |
1 | g.21842291C>G | CA338915732 | HSPG2 | c.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) | |
1 | g.21842291C>T | CA416679293 | HSPG2 | c.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 |
1 | g.21842292T>A | CA338915733 | HSPG2 | c.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) | |
1 | g.21842292T>C | CA338915735 | HSPG2 | c.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) | |
1 | g.21842292T>G | CA338915736 | HSPG2 | c.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) | |
1 | g.21842293C>A | CA338915738 | HSPG2 | c.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) | |
1 | g.21842293C>G | CA338915739 | HSPG2 | c.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) | |
1 | g.21842293C>T | CA338915741 | HSPG2 | c.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) | |
1 | g.21842294A= | CA1158134066 | HSPG2 | c.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=) | |
1 | g.21842294A>C | CA416679297 | HSPG2 | c.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=) | |
1 | g.21842294A>G | CA416679296 | HSPG2 | c.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 |
1 | g.21842294A>T | CA416679298 | HSPG2 | c.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=) | |
1 | g.21842295G>A | CA338915743 | HSPG2 | c.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) | |
1 | g.21842295G>C | CA338915744 | HSPG2 | c.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) | |
1 | g.21842295G>T | CA338915746 | HSPG2 | c.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) | |
1 | g.21842296G>A | CA338915751 | HSPG2 | c.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) | |
1 | g.21842296G>C | CA338915749 | HSPG2 | c.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) | |
1 | g.21842296G>T | CA338915747 | HSPG2 | c.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) | |
1 | g.21842297G>A | CA416679301 | HSPG2 | c.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 |
1 | g.21842297G>C | CA416679302 | HSPG2 | c.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=) | |
1 | g.21842297G>T | CA416679303 | HSPG2 | c.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=) | |
1 | g.21842298C>A | CA338915752 | HSPG2 | c.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) | |
1 | g.21842298C>G | CA338915753 | HSPG2 | c.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) | |
1 | g.21842298C>T | CA338915755 | HSPG2 | c.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) | |
1 | g.21842299C>A | CA338915757 | HSPG2 | c.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) | |
1 | g.21842299C>G | CA338915758 | HSPG2 | c.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) | |
1 | g.21842299C>T | CA338915759 | HSPG2 | c.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) | |
1 | g.21842300T>A | CA416679310 | HSPG2 | c.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=) | |
1 | g.21842300T>C | CA416679311 | HSPG2 | c.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=) | |
1 | g.21842300T>G | CA416679312 | HSPG2 | c.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=) | |
1 | g.21842301G>A | CA338915760 | HSPG2 | c.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) | |
1 | g.21842301G>C | CA338915761 | HSPG2 | c.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) | |
1 | g.21842301G>T | CA338915762 | HSPG2 | c.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) | |
1 | g.21842302G>A | CA338915764 | HSPG2 | c.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) | |
1 | g.21842302G>C | CA338915765 | HSPG2 | c.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) | |
1 | g.21842302G>T | CA338915767 | HSPG2 | c.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) | |
1 | g.21842303G>A | CA416679321 | HSPG2 | c.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 |
1 | g.21842303G>C | CA416679319 | HSPG2 | c.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=) | |
1 | g.21842303G>T | CA416679320 | HSPG2 | c.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=) | |
1 | g.21842304C>A | CA338915771 | HSPG2 | c.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 |
1 | g.21842304C= | CA1158134067 | HSPG2 | c.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=) | |
1 | g.21842304C>G | CA338915769 | HSPG2 | c.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) | |
1 | g.21842304C>T | CA338915768 | HSPG2 | c.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 |
1 | g.21842305C>A | CA338915773 | HSPG2 | c.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) | |
1 | g.21842305C= | CA1158134068 | HSPG2 | c.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=) | |
1 | g.21842305C>G | CA338915775 | HSPG2 | c.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 |
1 | g.21842305C>T | CA338915776 | HSPG2 | c.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 |
1 | g.21842306G>A | CA670593 | HSPG2 | c.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 |
1 | g.21842306G>C | CA338915778 | HSPG2 | c.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 |
1 | g.21842306G= | CA1146902308 | HSPG2 | c.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=) | |
1 | g.21842306G>T | CA338915780 | HSPG2 | c.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) | |
1 | g.21842307C>A | CA338915782 | HSPG2 | c.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) | |
1 | g.21842307C= | CA1158134069 | HSPG2 | c.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=) | |
1 | g.21842307C>G | CA338915783 | HSPG2 | c.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) | |
1 | g.21842307C>T | CA338915785 | HSPG2 | c.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 |
1 | g.21842308T>A | CA19108366 | HSPG2 | c.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 |
1 | g.21842308T>C | CA670594 | HSPG2 | c.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 |
1 | g.21842308T>G | CA19108370 | HSPG2 | c.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 |
1 | g.21842308T= | CA1139921405 | HSPG2 | c.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=) | |
1 | g.21842308_21842309delinsCA | CA2580061531 | HSPG2 | c.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 |
1 | g.21842309G>A | CA670595 | HSPG2 | c.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 |
1 | g.21842309G>C | CA416679329 | HSPG2 | c.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=) | |
1 | g.21842309G= | CA1141958775 | HSPG2 | c.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=) | |
1 | g.21842309G>T | CA416679330 | HSPG2 | c.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=) | |
1 | g.21842310G>A | CA338915793 | HSPG2 | c.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) | |
1 | g.21842310G>C | CA338915788 | HSPG2 | c.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) | |
1 | g.21842310G>T | CA338915789 | HSPG2 | c.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) | |
1 | g.21842311C>A | CA338915795 | HSPG2 | c.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) | |
1 | g.21842311C>G | CA338915797 | HSPG2 | c.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 |
1 | g.21842311C>T | CA338915798 | HSPG2 | c.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) | |
1 | g.21842312T>A | CA416679334 | HSPG2 | c.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=) | |
1 | g.21842312T>C | CA416679335 | HSPG2 | c.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=) | |
1 | g.21842312T>G | CA416679332 | HSPG2 | c.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=) | |
1 | g.21842313G>A | CA338915800 | HSPG2 | c.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 |
1 | g.21842313G>C | CA338915802 | HSPG2 | c.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) | |
1 | g.21842313G= | CA1158134070 | HSPG2 | c.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=) | |
1 | g.21842313G>T | CA338915803 | HSPG2 | c.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 |
1 | g.21842314C>A | CA338915805 | HSPG2 | c.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) | |
1 | g.21842314C>G | CA338915807 | HSPG2 | c.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) | |
1 | g.21842314C>T | CA338915809 | HSPG2 | c.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 |
1 | g.21842315A>C | CA416679340 | HSPG2 | c.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=) | |
1 | g.21842315A>G | CA416679339 | HSPG2 | c.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=) | |
1 | g.21842315A>T | CA416679338 | HSPG2 | c.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=) | |
1 | g.21842316C>A | CA338915810 | HSPG2 | c.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) | |
1 | g.21842316C= | CA1143603966 | HSPG2 | c.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=) | |
1 | g.21842316C>G | CA338915812 | HSPG2 | c.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) | |
1 | g.21842316C>T | CA670596 | HSPG2 | c.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 |
1 | g.21842317G>A | CA338915816 | HSPG2 | c.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 |
1 | g.21842317G>C | CA338915819 | HSPG2 | c.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) | |
1 | g.21842317G= | CA1158134071 | HSPG2 | c.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=) | |
1 | g.21842317G>T | CA338915817 | HSPG2 | c.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) | |
1 | g.21842318A>C | CA338915822 | HSPG2 | c.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) | |
1 | g.21842318A>G | CA416679346 | HSPG2 | c.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=) | |
1 | g.21842318A>T | CA338915823 | HSPG2 | c.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) | |
1 | g.21842319C>A | CA338915825 | HSPG2 | c.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) | |
1 | g.21842319C>G | CA338915829 | HSPG2 | c.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) | |
1 | g.21842319C>T | CA338915827 | HSPG2 | c.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) | |
1 | g.21842320A= | CA1148245086 | HSPG2 | c.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=) | |
1 | g.21842320A>C | CA338915831 | HSPG2 | c.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 |
1 | g.21842320A>G | CA670597 | HSPG2 | c.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 |
1 | g.21842320A>T | CA338915833 | HSPG2 | c.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) | |
1 | g.21842321C>A | CA416679350 | HSPG2 | c.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=) | |
1 | g.21842321C= | CA1158134072 | HSPG2 | c.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=) | |
1 | g.21842321C>G | CA416679352 | HSPG2 | c.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=) | |
1 | g.21842321C>T | CA416679354 | HSPG2 | c.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 |
1 | g.21842322A>C | CA338915836 | HSPG2 | c.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) | |
1 | g.21842322A>G | CA338915838 | HSPG2 | c.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) | |
1 | g.21842322A>T | CA338915839 | HSPG2 | c.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) | |
1 | g.21842323C>A | CA338915841 | HSPG2 | c.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) | |
1 | g.21842323C= | CA1158134073 | HSPG2 | c.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=) | |
1 | g.21842323C>G | CA338915843 | HSPG2 | c.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) | |
1 | g.21842323C>T | CA338915845 | HSPG2 | c.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 |
1 | g.21842324A= | CA1158134074 | HSPG2 | c.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=) | |
1 | g.21842324A>C | CA338915847 | HSPG2 | c.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) | |
1 | g.21842324A>G | CA670598 | HSPG2 | c.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 |
1 | g.21842324A>T | CA338915850 | HSPG2 | c.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) | |
1 | g.21842325T>A | CA338915855 | HSPG2 | c.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) | |
1 | g.21842325T>C | CA338915852 | HSPG2 | c.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 |
1 | g.21842325T>G | CA338915853 | HSPG2 | c.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) | |
1 | g.21842326A>C | CA338915857 | HSPG2 | c.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) | |
1 | g.21842326A>G | CA338915859 | HSPG2 | c.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) | |
1 | g.21842326A>T | CA338915860 | HSPG2 | c.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) | |
1 | g.21842327C>A | CA338915862 | HSPG2 | c.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) | |
1 | g.21842327C= | CA1158134075 | HSPG2 | c.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=) | |
1 | g.21842327C>G | CA670599 | HSPG2 | c.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 |
1 | g.21842327C>T | CA416679359 | HSPG2 | c.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 |
1 | g.21842328_21842329del | CA2742776525 | HSPG2 | c.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) | |
1 | g.21842328T>A | CA338915865 | HSPG2 | c.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) | |
1 | g.21842328T>C | CA338915868 | HSPG2 | c.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 |
1 | g.21842328T>G | CA338915869 | HSPG2 | c.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) | |
1 | g.21842328T= | CA1158134076 | HSPG2 | c.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=) | |
1 | g.21842329C>A | CA338915872 | HSPG2 | c.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) | |
1 | g.21842329C= | CA1158134077 | HSPG2 | c.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=) | |
1 | g.21842329C>G | CA338915874 | HSPG2 | c.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) | |
1 | g.21842329C>T | CA670600 | HSPG2 | c.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 |
1 | g.21842330G>A | CA670601 | HSPG2 | c.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 |
1 | g.21842330G>C | CA416679361 | HSPG2 | c.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 |
1 | g.21842330G= | CA1143693828 | HSPG2 | c.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=) | |
1 | g.21842330G>T | CA416679362 | HSPG2 | c.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=) | |
1 | g.21842331C>A | CA338915880 | HSPG2 | c.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) | |
1 | g.21842331C>G | CA338915877 | HSPG2 | c.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) | |
1 | g.21842331C>T | CA338915879 | HSPG2 | c.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 |
1 | g.21842332C>A | CA338915882 | HSPG2 | c.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) | |
1 | g.21842332C>G | CA338915883 | HSPG2 | c.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) | |
1 | g.21842332C>T | CA338915885 | HSPG2 | c.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) | |
1 | g.21842333T>A | CA416679363 | HSPG2 | c.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=) | |
1 | g.21842333T>C | CA416679364 | HSPG2 | c.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 |
1 | g.21842333T>G | CA416679365 | HSPG2 | c.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=) | |
1 | g.21842333T= | CA1158134078 | HSPG2 | c.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=) | |
1 | g.21842334G>A | CA338915887 | HSPG2 | c.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) | |
1 | g.21842334G>C | CA338915888 | HSPG2 | c.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) | |
1 | g.21842334G>T | CA338915889 | HSPG2 | c.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) | |
1 | g.21842335A>C | CA338915892 | HSPG2 | c.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) | |
1 | g.21842335A>G | CA338915894 | HSPG2 | c.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 |
1 | g.21842335A>T | CA338915895 | HSPG2 | c.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) | |
1 | g.21842336G>A | CA416679369 | HSPG2 | c.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=) | |
1 | g.21842336G>C | CA338915896 | HSPG2 | c.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) | |
1 | g.21842336G>T | CA338915898 | HSPG2 | c.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) | |
1 | g.21842337T>A | CA338915899 | HSPG2 | c.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) | |
1 | g.21842337T>C | CA338915902 | HSPG2 | c.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) | |
1 | g.21842337T>G | CA338915900 | HSPG2 | c.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) | |
1 | g.21842338C>A | CA338915904 | HSPG2 | c.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 |
1 | g.21842338C= | CA1158134079 | HSPG2 | c.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=) | |
1 | g.21842338C>G | CA338915906 | HSPG2 | c.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 |
1 | g.21842338C>T | CA338915907 | HSPG2 | c.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 |
1 | g.21842339G>A | CA670602 | HSPG2 | c.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 |
1 | g.21842339G>C | CA670603 | HSPG2 | c.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 |
1 | g.21842339G= | CA1158134080 | HSPG2 | c.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=) | |
1 | g.21842339G>T | CA416679371 | HSPG2 | c.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=) | |
1 | g.21842340G>A | CA338915911 | HSPG2 | c.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 |
1 | g.21842340G>C | CA338915914 | HSPG2 | c.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) | |
1 | g.21842340G= | CA1158134081 | HSPG2 | c.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=) | |
1 | g.21842340G>T | CA338915916 | HSPG2 | c.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) | |
1 | g.21842341C>A | CA338915918 | HSPG2 | c.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 |
1 | g.21842341C= | CA1158134082 | HSPG2 | c.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=) | |
1 | g.21842341C>G | CA338915920 | HSPG2 | c.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) | |
1 | g.21842341C>T | CA338915922 | HSPG2 | c.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 |
1 | g.21842342A= | CA1158134083 | HSPG2 | c.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=) | |
1 | g.21842342A>C | CA416679376 | HSPG2 | c.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=) | |
1 | g.21842342A>G | CA416679375 | HSPG2 | c.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 |
1 | g.21842342A>T | CA416679377 | HSPG2 | c.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=) | |
1 | g.21842343G>A | CA338915926 | HSPG2 | c.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 |
1 | g.21842343G>C | CA338915927 | HSPG2 | c.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 |
1 | g.21842343G>T | CA338915924 | HSPG2 | c.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) | |
1 | g.21842344G>A | CA338915929 | HSPG2 | c.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 |
1 | g.21842344G>C | CA338915931 | HSPG2 | c.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 |
1 | g.21842344G= | CA1158134084 | HSPG2 | c.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=) | |
1 | g.21842344G>T | CA338915933 | HSPG2 | c.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 |
1 | g.21842345G>A | CA416679384 | HSPG2 | c.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 |
1 | g.21842345G>C | CA19108477 | HSPG2 | c.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 |
1 | g.21842345G= | CA1158134085 | HSPG2 | c.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=) | |
1 | g.21842345G>T | CA416679385 | HSPG2 | c.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=) | |
1 | g.21842346G>A | CA19108479 | HSPG2 | c.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 |
1 | g.21842346G>C | CA338915936 | HSPG2 | c.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 |
1 | g.21842346G= | CA1158134086 | HSPG2 | c.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=) | |
1 | g.21842346G>T | CA338915937 | HSPG2 | c.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 |
1 | g.21842347A>C | CA338915939 | HSPG2 | c.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) | |
1 | g.21842347A>G | CA338915941 | HSPG2 | c.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 |
1 | g.21842347A>T | CA338915943 | HSPG2 | c.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) | |
1 | g.21842348G>A | CA416679388 | HSPG2 | c.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 |
1 | g.21842348G>C | CA416679390 | HSPG2 | c.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=) | |
1 | g.21842348G= | CA1158134087 | HSPG2 | c.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=) | |
1 | g.21842348G>T | CA416679389 | HSPG2 | c.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=) | |
1 | g.21842349A>C | CA338915945 | HSPG2 | c.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) | |
1 | g.21842349A>G | CA338915946 | HSPG2 | c.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 |
1 | g.21842349A>T | CA338915948 | HSPG2 | c.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) | |
1 | g.21842350C>A | CA338915950 | HSPG2 | c.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 |
1 | g.21842350C= | CA1139921406 | HSPG2 | c.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=) | |
1 | g.21842350C>G | CA338915951 | HSPG2 | c.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 |
1 | g.21842350C>T | CA670604 | HSPG2 | c.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 |
1 | g.21842351G>A | CA670605 | HSPG2 | c.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 |
1 | g.21842351G>C | CA416679392 | HSPG2 | c.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 |
1 | g.21842351G= | CA1158134088 | HSPG2 | c.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=) | |
1 | g.21842351G>T | CA416679394 | HSPG2 | c.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=) | |
1 | g.21842352A= | CA1139921407 | HSPG2 | c.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=) | |
1 | g.21842352A>C | CA338915955 | HSPG2 | c.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) | |
1 | g.21842352A>G | CA338915957 | HSPG2 | c.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) | |
1 | g.21842352A>T | CA670606 | HSPG2 | c.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 |
1 | g.21842353G>A | CA338915960 | HSPG2 | c.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) | |
1 | g.21842353G>C | CA338915962 | HSPG2 | c.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) | |
1 | g.21842353G>T | CA338915964 | HSPG2 | c.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) | |
1 | g.21842354G>A | CA416679400 | HSPG2 | c.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 |
1 | g.21842354G>C | CA338915966 | HSPG2 | c.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) | |
1 | g.21842354G= | CA1158134089 | HSPG2 | c.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=) | |
1 | g.21842354G>T | CA338915967 | HSPG2 | c.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) | |
1 | g.21842355T>A | CA338915970 | HSPG2 | c.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 |
1 | g.21842355T>C | CA19108501 | HSPG2 | c.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 |
1 | g.21842355T>G | CA338915972 | HSPG2 | c.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 |
1 | g.21842355T= | CA1158134090 | HSPG2 | c.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=) | |
1 | g.21842356G>A | CA338915974 | HSPG2 | c.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 |
1 | g.21842356G>C | CA338915976 | HSPG2 | c.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) | |
1 | g.21842356G= | CA1158134091 | HSPG2 | c.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=) | |
1 | g.21842356G>T | CA338915978 | HSPG2 | c.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 |
1 | g.21842357G>A | CA416679404 | HSPG2 | c.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 |
1 | g.21842357G>C | CA416679405 | HSPG2 | c.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=) | |
1 | g.21842357G>T | CA416679406 | HSPG2 | c.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=) |