| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130452231G>A | CA16041297 | ASS1 | c.3G>A (p.Met1Ile) c.117G>A (p.Met39Ile) c.99G>A (p.Met33Ile) | ClinVar dbSNP |
| 9 | g.130452231G>C | CA375223460 | ASS1 | c.3G>C (p.Met1Ile) c.117G>C (p.Met39Ile) c.99G>C (p.Met33Ile) | |
| 9 | g.130452231G= | CA1881244416 | ASS1 | c.3G= (p.Met1=) c.117G= (p.Met39=) c.99G= (p.Met33=) | |
| 9 | g.130452231G>T | CA375223459 | ASS1 | c.3G>T (p.Met1Ile) c.117G>T (p.Met39Ile) c.99G>T (p.Met33Ile) | |
| 9 | g.130452232T>A | CA5283122 | ASS1 | c.4T>A (p.Ser2Thr) c.118T>A (p.Ser40Thr) c.100T>A (p.Ser34Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130452232T>C | CA375223462 | ASS1 | c.4T>C (p.Ser2Pro) c.118T>C (p.Ser40Pro) c.100T>C (p.Ser34Pro) | |
| 9 | g.130452232T>G | CA375223461 | ASS1 | c.4T>G (p.Ser2Ala) c.118T>G (p.Ser40Ala) c.100T>G (p.Ser34Ala) | |
| 9 | g.130452232T= | CA1881244417 | ASS1 | c.4T= (p.Ser2=) c.118T= (p.Ser40=) c.100T= (p.Ser34=) | |
| 9 | g.130452233C>A | CA375223463 | ASS1 | c.5C>A (p.Ser2Tyr) c.119C>A (p.Ser40Tyr) c.101C>A (p.Ser34Tyr) | |
| 9 | g.130452233C>G | CA375223465 | ASS1 | c.5C>G (p.Ser2Cys) c.119C>G (p.Ser40Cys) c.101C>G (p.Ser34Cys) | |
| 9 | g.130452233C>T | CA375223464 | ASS1 | c.5C>T (p.Ser2Phe) c.119C>T (p.Ser40Phe) c.101C>T (p.Ser34Phe) | |
| 9 | g.130452233_130452234del | CA2692119341 | ASS1 | c.5_6del (p.Ser2Ter) c.119_120del (p.Ser40Ter) c.101_102del (p.Ser34Ter) | gnomAD v4 |
| 9 | g.130452234C>A | CA467388102 | ASS1 | c.6C>A (p.Ser2=) c.120C>A (p.Ser40=) c.102C>A (p.Ser34=) | |
| 9 | g.130452234C>G | CA467388103 | ASS1 | c.6C>G (p.Ser2=) c.120C>G (p.Ser40=) c.102C>G (p.Ser34=) | |
| 9 | g.130452234C>T | CA467388104 | ASS1 | c.6C>T (p.Ser2=) c.120C>T (p.Ser40=) c.102C>T (p.Ser34=) | |
| 9 | g.130452235A>C | CA375223466 | ASS1 | c.7A>C (p.Ser3Arg) c.121A>C (p.Ser41Arg) c.103A>C (p.Ser35Arg) | |
| 9 | g.130452235A>G | CA375223467 | ASS1 | c.7A>G (p.Ser3Gly) c.121A>G (p.Ser41Gly) c.103A>G (p.Ser35Gly) | gnomAD v4 |
| 9 | g.130452235A>T | CA375223468 | ASS1 | c.7A>T (p.Ser3Cys) c.121A>T (p.Ser41Cys) c.103A>T (p.Ser35Cys) | |
| 9 | g.130452236G>A | CA375223469 | ASS1 | c.8G>A (p.Ser3Asn) c.122G>A (p.Ser41Asn) c.104G>A (p.Ser35Asn) | ClinVar dbSNP |
| 9 | g.130452236G>C | CA375223470 | ASS1 | c.8G>C (p.Ser3Thr) c.122G>C (p.Ser41Thr) c.104G>C (p.Ser35Thr) | |
| 9 | g.130452236G= | CA1881244418 | ASS1 | c.8G= (p.Ser3=) c.122G= (p.Ser41=) c.104G= (p.Ser35=) | |
| 9 | g.130452236G>T | CA375223471 | ASS1 | c.8G>T (p.Ser3Ile) c.122G>T (p.Ser41Ile) c.104G>T (p.Ser35Ile) | |
| 9 | g.130452236_130452243del | CA2692119348 | ASS1 | c.8_15del (p.Ser3IlefsTer25) c.122_129del (p.Ser41IlefsTer25) c.104_111del (p.Ser35IlefsTer25) | gnomAD v4 |
| 9 | g.130452237C>A | CA375223472 | ASS1 | c.9C>A (p.Ser3Arg) c.123C>A (p.Ser41Arg) c.105C>A (p.Ser35Arg) | |
| 9 | g.130452237C>G | CA375223473 | ASS1 | c.9C>G (p.Ser3Arg) c.123C>G (p.Ser41Arg) c.105C>G (p.Ser35Arg) | gnomAD v4 |
| 9 | g.130452237C>T | CA467388107 | ASS1 | c.9C>T (p.Ser3=) c.123C>T (p.Ser41=) c.105C>T (p.Ser35=) | |
| 9 | g.130452238A>C | CA375223474 | ASS1 | c.10A>C (p.Lys4Gln) c.124A>C (p.Lys42Gln) c.106A>C (p.Lys36Gln) | |
| 9 | g.130452238A>G | CA375223475 | ASS1 | c.10A>G (p.Lys4Glu) c.124A>G (p.Lys42Glu) c.106A>G (p.Lys36Glu) | |
| 9 | g.130452238A>T | CA375223476 | ASS1 | c.10A>T (p.Lys4Ter) c.124A>T (p.Lys42Ter) c.106A>T (p.Lys36Ter) | |
| 9 | g.130452240del | CA2692119353 | ASS1 | c.12del (p.Gly5AlafsTer20) c.126del (p.Gly43AlafsTer20) c.108del (p.Gly37AlafsTer20) | gnomAD v4 |
| 9 | g.130452239A>C | CA375223479 | ASS1 | c.11A>C (p.Lys4Thr) c.125A>C (p.Lys42Thr) c.107A>C (p.Lys36Thr) | |
| 9 | g.130452239A>G | CA375223478 | ASS1 | c.11A>G (p.Lys4Arg) c.125A>G (p.Lys42Arg) c.107A>G (p.Lys36Arg) | |
| 9 | g.130452239A>T | CA375223477 | ASS1 | c.11A>T (p.Lys4Ile) c.125A>T (p.Lys42Ile) c.107A>T (p.Lys36Ile) | |
| 9 | g.130452240A>C | CA375223480 | ASS1 | c.12A>C (p.Lys4Asn) c.126A>C (p.Lys42Asn) c.108A>C (p.Lys36Asn) | |
| 9 | g.130452240A>G | CA467388109 | ASS1 | c.12A>G (p.Lys4=) c.126A>G (p.Lys42=) c.108A>G (p.Lys36=) | |
| 9 | g.130452240A>T | CA375223481 | ASS1 | c.12A>T (p.Lys4Asn) c.126A>T (p.Lys42Asn) c.108A>T (p.Lys36Asn) | |
| 9 | g.130452241G>A | CA375223482 | ASS1 | c.13G>A (p.Gly5Ser) c.127G>A (p.Gly43Ser) c.109G>A (p.Gly37Ser) | |
| 9 | g.130452241G>C | CA375223483 | ASS1 | c.13G>C (p.Gly5Arg) c.127G>C (p.Gly43Arg) c.109G>C (p.Gly37Arg) | |
| 9 | g.130452241G>T | CA375223484 | ASS1 | c.13G>T (p.Gly5Cys) c.127G>T (p.Gly43Cys) c.109G>T (p.Gly37Cys) | |
| 9 | g.130452242G>A | CA375223485 | ASS1 | c.14G>A (p.Gly5Asp) c.128G>A (p.Gly43Asp) c.110G>A (p.Gly37Asp) | |
| 9 | g.130452242G>C | CA312354 | ASS1 | c.14G>C (p.Gly5Ala) c.128G>C (p.Gly43Ala) c.110G>C (p.Gly37Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130452242G= | CA1881244420 | ASS1 | c.14G= (p.Gly5=) c.128G= (p.Gly43=) c.110G= (p.Gly37=) | |
| 9 | g.130452242G>T | CA5283123 | ASS1 | c.14G>T (p.Gly5Val) c.128G>T (p.Gly43Val) c.110G>T (p.Gly37Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130452243C>A | CA467388111 | ASS1 | c.15C>A (p.Gly5=) c.129C>A (p.Gly43=) c.111C>A (p.Gly37=) | |
| 9 | g.130452243C>G | CA467388112 | ASS1 | c.15C>G (p.Gly5=) c.129C>G (p.Gly43=) c.111C>G (p.Gly37=) | |
| 9 | g.130452243C>T | CA467388113 | ASS1 | c.15C>T (p.Gly5=) c.129C>T (p.Gly43=) c.111C>T (p.Gly37=) | |
| 9 | g.130452244T>A | CA375223486 | ASS1 | c.16T>A (p.Ser6Thr) c.130T>A (p.Ser44Thr) c.112T>A (p.Ser38Thr) | |
| 9 | g.130452244T>C | CA5283125 | ASS1 | c.16T>C (p.Ser6Pro) c.130T>C (p.Ser44Pro) c.112T>C (p.Ser38Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130452244T>G | CA5283124 | ASS1 | c.16T>G (p.Ser6Ala) c.130T>G (p.Ser44Ala) c.112T>G (p.Ser38Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130452244T= | CA1881244421 | ASS1 | c.16T= (p.Ser6=) c.130T= (p.Ser44=) c.112T= (p.Ser38=) |