Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
9 | g.130452250G>C | CA375223496 | ASS1 | c.22G>C (p.Val8Leu) c.136G>C (p.Val46Leu) c.118G>C (p.Val40Leu) | |
9 | g.130452250G= | CA1881244426 | ASS1 | c.22G= (p.Val8=) c.136G= (p.Val46=) c.118G= (p.Val40=) | |
9 | g.130452250G>T | CA375223497 | ASS1 | c.22G>T (p.Val8Phe) c.136G>T (p.Val46Phe) c.118G>T (p.Val40Phe) | dbSNP gnomAD v4 |
9 | g.130452251T>A | CA375223498 | ASS1 | c.23T>A (p.Val8Asp) c.137T>A (p.Val46Asp) c.119T>A (p.Val40Asp) | |
9 | g.130452251T>C | CA375223499 | ASS1 | c.23T>C (p.Val8Ala) c.137T>C (p.Val46Ala) c.119T>C (p.Val40Ala) | dbSNP |
9 | g.130452251T>G | CA375223500 | ASS1 | c.23T>G (p.Val8Gly) c.137T>G (p.Val46Gly) c.119T>G (p.Val40Gly) | |
9 | g.130452251T= | CA1881244430 | ASS1 | c.23T= (p.Val8=) c.137T= (p.Val46=) c.119T= (p.Val40=) | |
9 | g.130452252T>A | CA467388124 | ASS1 | c.24T>A (p.Val8=) c.138T>A (p.Val46=) c.120T>A (p.Val40=) | |
9 | g.130452252T>C | CA467388125 | ASS1 | c.24T>C (p.Val8=) c.138T>C (p.Val46=) c.120T>C (p.Val40=) | dbSNP |
9 | g.130452252T>G | CA467388126 | ASS1 | c.24T>G (p.Val8=) c.138T>G (p.Val46=) c.120T>G (p.Val40=) | |
9 | g.130452252T= | CA1881244432 | ASS1 | c.24T= (p.Val8=) c.138T= (p.Val46=) c.120T= (p.Val40=) | |
9 | g.130452253C>A | CA375223501 | ASS1 | c.25C>A (p.Leu9Met) c.139C>A (p.Leu47Met) c.121C>A (p.Leu41Met) | |
9 | g.130452253C= | CA1881244433 | ASS1 | c.25C= (p.Leu9=) c.139C= (p.Leu47=) c.121C= (p.Leu41=) | |
9 | g.130452253C>G | CA5283128 | ASS1 | c.25C>G (p.Leu9Val) c.139C>G (p.Leu47Val) c.121C>G (p.Leu41Val) | dbSNP ExAC |
9 | g.130452253C>T | CA467388128 | ASS1 | c.25C>T (p.Leu9=) c.139C>T (p.Leu47=) c.121C>T (p.Leu41=) | |
9 | g.130452254T>A | CA375223502 | ASS1 | c.26T>A (p.Leu9Gln) c.140T>A (p.Leu47Gln) c.122T>A (p.Leu41Gln) | gnomAD v4 |
9 | g.130452254T>C | CA375223503 | ASS1 | c.26T>C (p.Leu9Pro) c.140T>C (p.Leu47Pro) c.122T>C (p.Leu41Pro) | |
9 | g.130452254T>G | CA375223504 | ASS1 | c.26T>G (p.Leu9Arg) c.140T>G (p.Leu47Arg) c.122T>G (p.Leu41Arg) | |
9 | g.130452255G>A | CA467388130 | ASS1 | c.27G>A (p.Leu9=) c.141G>A (p.Leu47=) c.123G>A (p.Leu41=) | gnomAD v4 |
9 | g.130452255G>C | CA467388131 | ASS1 | c.27G>C (p.Leu9=) c.141G>C (p.Leu47=) c.123G>C (p.Leu41=) |