WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21842252C>A | CA338915596 | HSPG2 | c.9039G>T (p.Glu3013Asp) c.9042G>T (p.Glu3014Asp) c.9585G>T (p.Glu3195Asp) c.9537G>T (p.Glu3179Asp) c.9516G>T (p.Glu3172Asp) c.9588G>T (p.Glu3196Asp) c.9309G>T (p.Glu3103Asp) c.9093G>T (p.Glu3031Asp) c.9234G>T (p.Glu3078Asp) c.9183G>T (p.Glu3061Asp) c.9180G>T (p.Glu3060Asp) | |
| 1 | g.21842252C>G | CA338915598 | HSPG2 | c.9039G>C (p.Glu3013Asp) c.9042G>C (p.Glu3014Asp) c.9585G>C (p.Glu3195Asp) c.9537G>C (p.Glu3179Asp) c.9516G>C (p.Glu3172Asp) c.9588G>C (p.Glu3196Asp) c.9309G>C (p.Glu3103Asp) c.9093G>C (p.Glu3031Asp) c.9234G>C (p.Glu3078Asp) c.9183G>C (p.Glu3061Asp) c.9180G>C (p.Glu3060Asp) | |
| 1 | g.21842252C>T | CA416679252 | HSPG2 | c.9039G>A (p.Glu3013=) c.9042G>A (p.Glu3014=) c.9585G>A (p.Glu3195=) c.9537G>A (p.Glu3179=) c.9516G>A (p.Glu3172=) c.9588G>A (p.Glu3196=) c.9309G>A (p.Glu3103=) c.9093G>A (p.Glu3031=) c.9234G>A (p.Glu3078=) c.9183G>A (p.Glu3061=) c.9180G>A (p.Glu3060=) | |
| 1 | g.21842253T>A | CA338915600 | HSPG2 | c.9038A>T (p.Glu3013Val) c.9041A>T (p.Glu3014Val) c.9584A>T (p.Glu3195Val) c.9536A>T (p.Glu3179Val) c.9515A>T (p.Glu3172Val) c.9587A>T (p.Glu3196Val) c.9308A>T (p.Glu3103Val) c.9092A>T (p.Glu3031Val) c.9233A>T (p.Glu3078Val) c.9182A>T (p.Glu3061Val) c.9179A>T (p.Glu3060Val) | |
| 1 | g.21842253T>C | CA338915602 | HSPG2 | c.9038A>G (p.Glu3013Gly) c.9041A>G (p.Glu3014Gly) c.9584A>G (p.Glu3195Gly) c.9536A>G (p.Glu3179Gly) c.9515A>G (p.Glu3172Gly) c.9587A>G (p.Glu3196Gly) c.9308A>G (p.Glu3103Gly) c.9092A>G (p.Glu3031Gly) c.9233A>G (p.Glu3078Gly) c.9182A>G (p.Glu3061Gly) c.9179A>G (p.Glu3060Gly) | |
| 1 | g.21842253T>G | CA338915603 | HSPG2 | c.9038A>C (p.Glu3013Ala) c.9041A>C (p.Glu3014Ala) c.9584A>C (p.Glu3195Ala) c.9536A>C (p.Glu3179Ala) c.9515A>C (p.Glu3172Ala) c.9587A>C (p.Glu3196Ala) c.9308A>C (p.Glu3103Ala) c.9092A>C (p.Glu3031Ala) c.9233A>C (p.Glu3078Ala) c.9182A>C (p.Glu3061Ala) c.9179A>C (p.Glu3060Ala) | |
| 1 | g.21842254C>A | CA338915606 | HSPG2 | c.9037G>T (p.Glu3013Ter) c.9040G>T (p.Glu3014Ter) c.9583G>T (p.Glu3195Ter) c.9535G>T (p.Glu3179Ter) c.9514G>T (p.Glu3172Ter) c.9586G>T (p.Glu3196Ter) c.9307G>T (p.Glu3103Ter) c.9091G>T (p.Glu3031Ter) c.9232G>T (p.Glu3078Ter) c.9181G>T (p.Glu3061Ter) c.9178G>T (p.Glu3060Ter) | |
| 1 | g.21842254C= | CA1158134052 | HSPG2 | c.9037G= (p.Glu3013=) c.9040G= (p.Glu3014=) c.9583G= (p.Glu3195=) c.9535G= (p.Glu3179=) c.9514G= (p.Glu3172=) c.9586G= (p.Glu3196=) c.9307G= (p.Glu3103=) c.9091G= (p.Glu3031=) c.9232G= (p.Glu3078=) c.9181G= (p.Glu3061=) c.9178G= (p.Glu3060=) | |
| 1 | g.21842254C>G | CA338915605 | HSPG2 | c.9037G>C (p.Glu3013Gln) c.9040G>C (p.Glu3014Gln) c.9583G>C (p.Glu3195Gln) c.9535G>C (p.Glu3179Gln) c.9514G>C (p.Glu3172Gln) c.9586G>C (p.Glu3196Gln) c.9307G>C (p.Glu3103Gln) c.9091G>C (p.Glu3031Gln) c.9232G>C (p.Glu3078Gln) c.9181G>C (p.Glu3061Gln) c.9178G>C (p.Glu3060Gln) | |
| 1 | g.21842254C>T | CA338915604 | HSPG2 | c.9037G>A (p.Glu3013Lys) c.9040G>A (p.Glu3014Lys) c.9583G>A (p.Glu3195Lys) c.9535G>A (p.Glu3179Lys) c.9514G>A (p.Glu3172Lys) c.9586G>A (p.Glu3196Lys) c.9307G>A (p.Glu3103Lys) c.9091G>A (p.Glu3031Lys) c.9232G>A (p.Glu3078Lys) c.9181G>A (p.Glu3061Lys) c.9178G>A (p.Glu3060Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21842255A>C | CA338915608 | HSPG2 | c.9036T>G (p.Ser3012Arg) c.9039T>G (p.Ser3013Arg) c.9582T>G (p.Ser3194Arg) c.9534T>G (p.Ser3178Arg) c.9513T>G (p.Ser3171Arg) c.9585T>G (p.Ser3195Arg) c.9306T>G (p.Ser3102Arg) c.9090T>G (p.Ser3030Arg) c.9231T>G (p.Ser3077Arg) c.9180T>G (p.Ser3060Arg) c.9177T>G (p.Ser3059Arg) | |
| 1 | g.21842255A>G | CA416679254 | HSPG2 | c.9036T>C (p.Ser3012=) c.9039T>C (p.Ser3013=) c.9582T>C (p.Ser3194=) c.9534T>C (p.Ser3178=) c.9513T>C (p.Ser3171=) c.9585T>C (p.Ser3195=) c.9306T>C (p.Ser3102=) c.9090T>C (p.Ser3030=) c.9231T>C (p.Ser3077=) c.9180T>C (p.Ser3060=) c.9177T>C (p.Ser3059=) | |
| 1 | g.21842255A>T | CA338915610 | HSPG2 | c.9036T>A (p.Ser3012Arg) c.9039T>A (p.Ser3013Arg) c.9582T>A (p.Ser3194Arg) c.9534T>A (p.Ser3178Arg) c.9513T>A (p.Ser3171Arg) c.9585T>A (p.Ser3195Arg) c.9306T>A (p.Ser3102Arg) c.9090T>A (p.Ser3030Arg) c.9231T>A (p.Ser3077Arg) c.9180T>A (p.Ser3060Arg) c.9177T>A (p.Ser3059Arg) | |
| 1 | g.21842256C>A | CA338915612 | HSPG2 | c.9035G>T (p.Ser3012Ile) c.9038G>T (p.Ser3013Ile) c.9581G>T (p.Ser3194Ile) c.9533G>T (p.Ser3178Ile) c.9512G>T (p.Ser3171Ile) c.9584G>T (p.Ser3195Ile) c.9305G>T (p.Ser3102Ile) c.9089G>T (p.Ser3030Ile) c.9230G>T (p.Ser3077Ile) c.9179G>T (p.Ser3060Ile) c.9176G>T (p.Ser3059Ile) | |
| 1 | g.21842256C>G | CA338915613 | HSPG2 | c.9035G>C (p.Ser3012Thr) c.9038G>C (p.Ser3013Thr) c.9581G>C (p.Ser3194Thr) c.9533G>C (p.Ser3178Thr) c.9512G>C (p.Ser3171Thr) c.9584G>C (p.Ser3195Thr) c.9305G>C (p.Ser3102Thr) c.9089G>C (p.Ser3030Thr) c.9230G>C (p.Ser3077Thr) c.9179G>C (p.Ser3060Thr) c.9176G>C (p.Ser3059Thr) | |
| 1 | g.21842256C>T | CA338915615 | HSPG2 | c.9035G>A (p.Ser3012Asn) c.9038G>A (p.Ser3013Asn) c.9581G>A (p.Ser3194Asn) c.9533G>A (p.Ser3178Asn) c.9512G>A (p.Ser3171Asn) c.9584G>A (p.Ser3195Asn) c.9305G>A (p.Ser3102Asn) c.9089G>A (p.Ser3030Asn) c.9230G>A (p.Ser3077Asn) c.9179G>A (p.Ser3060Asn) c.9176G>A (p.Ser3059Asn) | |
| 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 |