Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
9 | g.130452245C>A | CA375223489 | ASS1 | c.17C>A (p.Ser6Tyr) c.131C>A (p.Ser44Tyr) c.113C>A (p.Ser38Tyr) | |
9 | g.130452245C>G | CA375223488 | ASS1 | c.17C>G (p.Ser6Cys) c.131C>G (p.Ser44Cys) c.113C>G (p.Ser38Cys) | |
9 | g.130452245C>T | CA375223487 | ASS1 | c.17C>T (p.Ser6Phe) c.131C>T (p.Ser44Phe) c.113C>T (p.Ser38Phe) | COSMIC |
9 | g.130452246C>A | CA467388114 | ASS1 | c.18C>A (p.Ser6=) c.132C>A (p.Ser44=) c.114C>A (p.Ser38=) | gnomAD v4 |
9 | g.130452246C= | CA1881244422 | ASS1 | c.18C= (p.Ser6=) c.132C= (p.Ser44=) c.114C= (p.Ser38=) | |
9 | g.130452246C>G | CA467388115 | ASS1 | c.18C>G (p.Ser6=) c.132C>G (p.Ser44=) c.114C>G (p.Ser38=) | ClinVar dbSNP |
9 | g.130452246C>T | CA5283126 | ASS1 | c.18C>T (p.Ser6=) c.132C>T (p.Ser44=) c.114C>T (p.Ser38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452247G>A | CA5283127 | ASS1 | c.19G>A (p.Val7Met) c.133G>A (p.Val45Met) c.115G>A (p.Val39Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452247G>C | CA375223490 | ASS1 | c.19G>C (p.Val7Leu) c.133G>C (p.Val45Leu) c.115G>C (p.Val39Leu) | |
9 | g.130452247G= | CA1881244424 | ASS1 | c.19G= (p.Val7=) c.133G= (p.Val45=) c.115G= (p.Val39=) | |
9 | g.130452247G>T | CA375223491 | ASS1 | c.19G>T (p.Val7Leu) c.133G>T (p.Val45Leu) c.115G>T (p.Val39Leu) | |
9 | g.130452248T>A | CA375223492 | ASS1 | c.20T>A (p.Val7Glu) c.134T>A (p.Val45Glu) c.116T>A (p.Val39Glu) | |
9 | g.130452248T>C | CA375223493 | ASS1 | c.20T>C (p.Val7Ala) c.134T>C (p.Val45Ala) c.116T>C (p.Val39Ala) | |
9 | g.130452248T>G | CA375223494 | ASS1 | c.20T>G (p.Val7Gly) c.134T>G (p.Val45Gly) c.116T>G (p.Val39Gly) | |
9 | g.130452249G>A | CA467388119 | ASS1 | c.21G>A (p.Val7=) c.135G>A (p.Val45=) c.117G>A (p.Val39=) | |
9 | g.130452249G>C | CA467388120 | ASS1 | c.21G>C (p.Val7=) c.135G>C (p.Val45=) c.117G>C (p.Val39=) | |
9 | g.130452249G>T | CA467388121 | ASS1 | c.21G>T (p.Val7=) c.135G>T (p.Val45=) c.117G>T (p.Val39=) | |
9 | g.130452250G>A | CA375223495 | ASS1 | c.22G>A (p.Val8Ile) c.136G>A (p.Val46Ile) c.118G>A (p.Val40Ile) |