Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.87727303C>A | CA377489316 | PAPSS2 | c.900C>A (p.Ser300Arg) c.885C>A (p.Ser295Arg) | |
10 | g.87727303C>G | CA377489315 | PAPSS2 | c.900C>G (p.Ser300Arg) c.885C>G (p.Ser295Arg) | |
10 | g.87727303C>T | CA470668052 | PAPSS2 | c.900C>T (p.Ser300=) c.885C>T (p.Ser295=) | |
10 | g.87727304A>C | CA377489317 | PAPSS2 | c.901A>C (p.Ile301Leu) c.886A>C (p.Ile296Leu) | |
10 | g.87727304A>G | CA377489318 | PAPSS2 | c.901A>G (p.Ile301Val) c.886A>G (p.Ile296Val) | |
10 | g.87727304A>T | CA377489319 | PAPSS2 | c.901A>T (p.Ile301Phe) c.886A>T (p.Ile296Phe) | |
10 | g.87727305T>A | CA377489320 | PAPSS2 | c.902T>A (p.Ile301Asn) c.887T>A (p.Ile296Asn) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.87727305T>C | CA377489321 | PAPSS2 | c.902T>C (p.Ile301Thr) c.887T>C (p.Ile296Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87727305T>G | CA377489322 | PAPSS2 | c.902T>G (p.Ile301Ser) c.887T>G (p.Ile296Ser) | |
10 | g.87727305T= | CA1926080761 | PAPSS2 | c.902T= (p.Ile301=) c.887T= (p.Ile296=) | |
10 | g.87727305_87727306delinsTC | CA1926080760 | PAPSS2 | c.902_903delinsTC (p.Ile301=) c.887_888delinsTC (p.Ile296=) | |
10 | g.87727306C>A | CA470668060 | PAPSS2 | c.903C>A (p.Ile301=) c.888C>A (p.Ile296=) | dbSNP gnomAD v4 |
10 | g.87727306C= | CA1926080762 | PAPSS2 | c.903C= (p.Ile301=) c.888C= (p.Ile296=) | |
10 | g.87727306C>G | CA377489323 | PAPSS2 | c.903C>G (p.Ile301Met) c.888C>G (p.Ile296Met) | |
10 | g.87727306C>T | CA211271667 | PAPSS2 | c.903C>T (p.Ile301=) c.888C>T (p.Ile296=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.87727309del | CA930899645 | PAPSS2 | c.906del (p.Ile303LeufsTer28) c.891del (p.Ile298LeufsTer28) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87727307C>A | CA377489324 | PAPSS2 | c.904C>A (p.Pro302Thr) c.889C>A (p.Pro297Thr) | |
10 | g.87727307C= | CA1926080763 | PAPSS2 | c.904C= (p.Pro302=) c.889C= (p.Pro297=) | |
10 | g.87727307C>G | CA377489325 | PAPSS2 | c.904C>G (p.Pro302Ala) c.889C>G (p.Pro297Ala) | dbSNP |
10 | g.87727307C>T | CA377489326 | PAPSS2 | c.904C>T (p.Pro302Ser) c.889C>T (p.Pro297Ser) | |
10 | g.87727308C>A | CA377489327 | PAPSS2 | c.905C>A (p.Pro302His) c.890C>A (p.Pro297His) | |
10 | g.87727308C= | CA1926080764 | PAPSS2 | c.905C= (p.Pro302=) c.890C= (p.Pro297=) | |
10 | g.87727308C>G | CA377489328 | PAPSS2 | c.905C>G (p.Pro302Arg) c.890C>G (p.Pro297Arg) | dbSNP |
10 | g.87727308C>T | CA377489329 | PAPSS2 | c.905C>T (p.Pro302Leu) c.890C>T (p.Pro297Leu) | |
10 | g.87727309C>A | CA470668068 | PAPSS2 | c.906C>A (p.Pro302=) c.891C>A (p.Pro297=) | |
10 | g.87727309C>G | CA470668070 | PAPSS2 | c.906C>G (p.Pro302=) c.891C>G (p.Pro297=) | |
10 | g.87727309C>T | CA470668072 | PAPSS2 | c.906C>T (p.Pro302=) c.891C>T (p.Pro297=) | |
10 | g.87727310A= | CA1926080765 | PAPSS2 | c.907A= (p.Ile303=) c.892A= (p.Ile298=) | |
10 | g.87727310A>C | CA5589607 | PAPSS2 | c.907A>C (p.Ile303Leu) c.892A>C (p.Ile298Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727310A>G | CA5589606 | PAPSS2 | c.907A>G (p.Ile303Val) c.892A>G (p.Ile298Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727310A>T | CA377489330 | PAPSS2 | c.907A>T (p.Ile303Phe) c.892A>T (p.Ile298Phe) | |
10 | g.87727311T>A | CA377489331 | PAPSS2 | c.908T>A (p.Ile303Asn) c.893T>A (p.Ile298Asn) | |
10 | g.87727311T>C | CA377489332 | PAPSS2 | c.908T>C (p.Ile303Thr) c.893T>C (p.Ile298Thr) | |
10 | g.87727311T>G | CA377489333 | PAPSS2 | c.908T>G (p.Ile303Ser) c.893T>G (p.Ile298Ser) | |
10 | g.87727312T>A | CA470668087 | PAPSS2 | c.909T>A (p.Ile303=) c.894T>A (p.Ile298=) | gnomAD v4 |
10 | g.87727312T>C | CA470668091 | PAPSS2 | c.909T>C (p.Ile303=) c.894T>C (p.Ile298=) | |
10 | g.87727312T>G | CA377489334 | PAPSS2 | c.909T>G (p.Ile303Met) c.894T>G (p.Ile298Met) | |
10 | g.87727313G>A | CA377489335 | PAPSS2 | c.910G>A (p.Val304Ile) c.895G>A (p.Val299Ile) | |
10 | g.87727313G>C | CA377489336 | PAPSS2 | c.910G>C (p.Val304Leu) c.895G>C (p.Val299Leu) | |
10 | g.87727313G>T | CA377489337 | PAPSS2 | c.910G>T (p.Val304Leu) c.895G>T (p.Val299Leu) | |
10 | g.87727314T>A | CA377489338 | PAPSS2 | c.911T>A (p.Val304Glu) c.896T>A (p.Val299Glu) | |
10 | g.87727314T>C | CA377489339 | PAPSS2 | c.911T>C (p.Val304Ala) c.896T>C (p.Val299Ala) | |
10 | g.87727314T>G | CA377489340 | PAPSS2 | c.911T>G (p.Val304Gly) c.896T>G (p.Val299Gly) | |
10 | g.87727315A>C | CA470668099 | PAPSS2 | c.912A>C (p.Val304=) c.897A>C (p.Val299=) | |
10 | g.87727315A>G | CA470668102 | PAPSS2 | c.912A>G (p.Val304=) c.897A>G (p.Val299=) | |
10 | g.87727315A>T | CA470668103 | PAPSS2 | c.912A>T (p.Val304=) c.897A>T (p.Val299=) | |
10 | g.87727316C>A | CA377489341 | PAPSS2 | c.913C>A (p.Leu305Met) c.898C>A (p.Leu300Met) | |
10 | g.87727316C>G | CA377489342 | PAPSS2 | c.913C>G (p.Leu305Val) c.898C>G (p.Leu300Val) | |
10 | g.87727316C>T | CA470668107 | PAPSS2 | c.913C>T (p.Leu305=) c.898C>T (p.Leu300=) | |
10 | g.87727317T>A | CA377489344 | PAPSS2 | c.914T>A (p.Leu305Gln) c.899T>A (p.Leu300Gln) |