| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.87727267C>A | CA2610038246 | PAPSS2 | c.881-17C>A (n.881-17C>A) c.866-17C>A (n.866-17C>A) | gnomAD v4 |
| 10 | g.87727267C= | CA1926080745 | PAPSS2 | c.881-17C= (n.881-17C=) c.866-17C= (n.866-17C=) | |
| 10 | g.87727267C>T | CA5589597 | PAPSS2 | c.881-17C>T (n.881-17C>T) c.866-17C>T (n.866-17C>T) | dbSNP ExAC gnomAD v4 |
| 10 | g.87727268A>G | CA2788891767 | PAPSS2 | c.881-16A>G (n.881-16A>G) c.866-16A>G (n.866-16A>G) | |
| 10 | g.87727269T>C | CA2610038247 | PAPSS2 | c.881-15T>C (n.881-15T>C) c.866-15T>C (n.866-15T>C) | gnomAD v4 |
| 10 | g.87727269T>G | CA2574602747 | PAPSS2 | c.881-15T>G (n.881-15T>G) c.866-15T>G (n.866-15T>G) | |
| 10 | g.87727274C= | CA1926080746 | PAPSS2 | c.881-10C= (n.881-10C=) c.866-10C= (n.866-10C=) | |
| 10 | g.87727274C>T | CA5589598 | PAPSS2 | c.881-10C>T (n.881-10C>T) c.866-10C>T (n.866-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727277T>C | CA211271613 | PAPSS2 | c.881-7T>C (n.881-7T>C) c.866-7T>C (n.866-7T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727277T= | CA1926080747 | PAPSS2 | c.881-7T= (n.881-7T=) c.866-7T= (n.866-7T=) | |
| 10 | g.87727278C= | CA1926080748 | PAPSS2 | c.881-6C= (n.881-6C=) c.866-6C= (n.866-6C=) | |
| 10 | g.87727278C>G | CA211271614 | PAPSS2 | c.881-6C>G (n.881-6C>G) c.866-6C>G (n.866-6C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727282A>C | CA377489268 | PAPSS2 | c.881-2A>C (n.881-2A>C) c.866-2A>C (n.866-2A>C) | |
| 10 | g.87727282A>G | CA377489269 | PAPSS2 | c.881-2A>G (n.881-2A>G) c.866-2A>G (n.866-2A>G) | |
| 10 | g.87727282A>T | CA377489270 | PAPSS2 | c.881-2A>T (n.881-2A>T) c.866-2A>T (n.866-2A>T) | |
| 10 | g.87727283G>A | CA377489273 | PAPSS2 | c.881-1G>A (n.881-1G>A) c.866-1G>A (n.866-1G>A) | |
| 10 | g.87727283G>C | CA377489271 | PAPSS2 | c.881-1G>C (n.881-1G>C) c.866-1G>C (n.866-1G>C) | gnomAD v4 |
| 10 | g.87727283G>T | CA377489272 | PAPSS2 | c.881-1G>T (n.881-1G>T) c.866-1G>T (n.866-1G>T) | |
| 10 | g.87727284A>C | CA377489274 | PAPSS2 | c.881A>C (p.Asp294Ala) c.866A>C (p.Asp289Ala) | |
| 10 | g.87727284A>G | CA377489275 | PAPSS2 | c.881A>G (p.Asp294Gly) c.866A>G (p.Asp289Gly) | |
| 10 | g.87727284A>T | CA377489276 | PAPSS2 | c.881A>T (p.Asp294Val) c.866A>T (p.Asp289Val) | |
| 10 | g.87727285T>A | CA5589599 | PAPSS2 | c.882T>A (p.Asp294Glu) c.867T>A (p.Asp289Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727285T>C | CA470667986 | PAPSS2 | c.882T>C (p.Asp294=) c.867T>C (p.Asp289=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727285T>G | CA377489277 | PAPSS2 | c.882T>G (p.Asp294Glu) c.867T>G (p.Asp289Glu) | |
| 10 | g.87727285T= | CA1926080749 | PAPSS2 | c.882T= (p.Asp294=) c.867T= (p.Asp289=) | |
| 10 | g.87727286G>A | CA5589600 | PAPSS2 | c.883G>A (p.Gly295Ser) c.868G>A (p.Gly290Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727286G>C | CA377489279 | PAPSS2 | c.883G>C (p.Gly295Arg) c.868G>C (p.Gly290Arg) | |
| 10 | g.87727286G= | CA1926080750 | PAPSS2 | c.883G= (p.Gly295=) c.868G= (p.Gly290=) | |
| 10 | g.87727286G>T | CA377489278 | PAPSS2 | c.883G>T (p.Gly295Cys) c.868G>T (p.Gly290Cys) | |
| 10 | g.87727287G>A | CA5589601 | PAPSS2 | c.884G>A (p.Gly295Asp) c.869G>A (p.Gly290Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727287G>C | CA211271636 | PAPSS2 | c.884G>C (p.Gly295Ala) c.869G>C (p.Gly290Ala) | dbSNP gnomAD v4 |
| 10 | g.87727287G= | CA1926080751 | PAPSS2 | c.884G= (p.Gly295=) c.869G= (p.Gly290=) | |
| 10 | g.87727287G>T | CA377489280 | PAPSS2 | c.884G>T (p.Gly295Val) c.869G>T (p.Gly290Val) | COSMIC |
| 10 | g.87727288C>A | CA470667999 | PAPSS2 | c.885C>A (p.Gly295=) c.870C>A (p.Gly290=) | |
| 10 | g.87727288C= | CA1926080752 | PAPSS2 | c.885C= (p.Gly295=) c.870C= (p.Gly290=) | |
| 10 | g.87727288C>G | CA470668001 | PAPSS2 | c.885C>G (p.Gly295=) c.870C>G (p.Gly290=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.87727288C>T | CA5589602 | PAPSS2 | c.885C>T (p.Gly295=) c.870C>T (p.Gly290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727289G>A | CA5589603 | PAPSS2 | c.886G>A (p.Val296Met) c.871G>A (p.Val291Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727289G>C | CA377489281 | PAPSS2 | c.886G>C (p.Val296Leu) c.871G>C (p.Val291Leu) | |
| 10 | g.87727289G= | CA1926080753 | PAPSS2 | c.886G= (p.Val296=) c.871G= (p.Val291=) | |
| 10 | g.87727289G>T | CA377489282 | PAPSS2 | c.886G>T (p.Val296Leu) c.871G>T (p.Val291Leu) | |
| 10 | g.87727290T>A | CA377489283 | PAPSS2 | c.887T>A (p.Val296Glu) c.872T>A (p.Val291Glu) | |
| 10 | g.87727290T>C | CA377489284 | PAPSS2 | c.887T>C (p.Val296Ala) c.872T>C (p.Val291Ala) | |
| 10 | g.87727290T>G | CA377489285 | PAPSS2 | c.887T>G (p.Val296Gly) c.872T>G (p.Val291Gly) | |
| 10 | g.87727291G>A | CA470668009 | PAPSS2 | c.888G>A (p.Val296=) c.873G>A (p.Val291=) | |
| 10 | g.87727291G>C | CA470668011 | PAPSS2 | c.888G>C (p.Val296=) c.873G>C (p.Val291=) | |
| 10 | g.87727291G>T | CA470668012 | PAPSS2 | c.888G>T (p.Val296=) c.873G>T (p.Val291=) | |
| 10 | g.87727292A>C | CA377489288 | PAPSS2 | c.889A>C (p.Ile297Leu) c.874A>C (p.Ile292Leu) | |
| 10 | g.87727292A>G | CA377489287 | PAPSS2 | c.889A>G (p.Ile297Val) c.874A>G (p.Ile292Val) | gnomAD v4 |
| 10 | g.87727292A>T | CA377489286 | PAPSS2 | c.889A>T (p.Ile297Phe) c.874A>T (p.Ile292Phe) | |
| 10 | g.87727293T>A | CA377489289 | PAPSS2 | c.890T>A (p.Ile297Asn) c.875T>A (p.Ile292Asn) | |
| 10 | g.87727293T>C | CA377489291 | PAPSS2 | c.890T>C (p.Ile297Thr) c.875T>C (p.Ile292Thr) | dbSNP |
| 10 | g.87727293T>G | CA377489290 | PAPSS2 | c.890T>G (p.Ile297Ser) c.875T>G (p.Ile292Ser) | |
| 10 | g.87727293T= | CA1926080754 | PAPSS2 | c.890T= (p.Ile297=) c.875T= (p.Ile292=) | |
| 10 | g.87727294C>A | CA211271659 | PAPSS2 | c.891C>A (p.Ile297=) c.876C>A (p.Ile292=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727294C= | CA1926080755 | PAPSS2 | c.891C= (p.Ile297=) c.876C= (p.Ile292=) | |
| 10 | g.87727294C>G | CA5589604 | PAPSS2 | c.891C>G (p.Ile297Met) c.876C>G (p.Ile292Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727294C>T | CA5589605 | PAPSS2 | c.891C>T (p.Ile297=) c.876C>T (p.Ile292=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727295A>C | CA377489292 | PAPSS2 | c.892A>C (p.Asn298His) c.877A>C (p.Asn293His) | |
| 10 | g.87727295A>G | CA377489293 | PAPSS2 | c.892A>G (p.Asn298Asp) c.877A>G (p.Asn293Asp) | |
| 10 | g.87727295A>T | CA377489294 | PAPSS2 | c.892A>T (p.Asn298Tyr) c.877A>T (p.Asn293Tyr) | |
| 10 | g.87727296A>C | CA377489295 | PAPSS2 | c.893A>C (p.Asn298Thr) c.878A>C (p.Asn293Thr) | |
| 10 | g.87727296A>G | CA377489296 | PAPSS2 | c.893A>G (p.Asn298Ser) c.878A>G (p.Asn293Ser) | gnomAD v4 |
| 10 | g.87727296A>T | CA377489297 | PAPSS2 | c.893A>T (p.Asn298Ile) c.878A>T (p.Asn293Ile) | |
| 10 | g.87727297C>A | CA377489298 | PAPSS2 | c.894C>A (p.Asn298Lys) c.879C>A (p.Asn293Lys) | |
| 10 | g.87727297C>G | CA377489299 | PAPSS2 | c.894C>G (p.Asn298Lys) c.879C>G (p.Asn293Lys) | |
| 10 | g.87727297C>T | CA470668033 | PAPSS2 | c.894C>T (p.Asn298=) c.879C>T (p.Asn293=) | gnomAD v4 |
| 10 | g.87727298A= | CA1926080756 | PAPSS2 | c.895A= (p.Met299=) c.880A= (p.Met294=) | |
| 10 | g.87727298A>C | CA377489302 | PAPSS2 | c.895A>C (p.Met299Leu) c.880A>C (p.Met294Leu) | gnomAD v4 |
| 10 | g.87727298A>G | CA377489301 | PAPSS2 | c.895A>G (p.Met299Val) c.880A>G (p.Met294Val) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727298A>T | CA377489300 | PAPSS2 | c.895A>T (p.Met299Leu) c.880A>T (p.Met294Leu) | gnomAD v4 |
| 10 | g.87727299T>A | CA377489303 | PAPSS2 | c.896T>A (p.Met299Lys) c.881T>A (p.Met294Lys) | |
| 10 | g.87727299T>C | CA377489304 | PAPSS2 | c.896T>C (p.Met299Thr) c.881T>C (p.Met294Thr) | dbSNP |
| 10 | g.87727299T>G | CA377489305 | PAPSS2 | c.896T>G (p.Met299Arg) c.881T>G (p.Met294Arg) | |
| 10 | g.87727299T= | CA1926080757 | PAPSS2 | c.896T= (p.Met299=) c.881T= (p.Met294=) | |
| 10 | g.87727300G>A | CA377489306 | PAPSS2 | c.897G>A (p.Met299Ile) c.882G>A (p.Met294Ile) | |
| 10 | g.87727300G>C | CA377489307 | PAPSS2 | c.897G>C (p.Met299Ile) c.882G>C (p.Met294Ile) | |
| 10 | g.87727300G>T | CA377489308 | PAPSS2 | c.897G>T (p.Met299Ile) c.882G>T (p.Met294Ile) | |
| 10 | g.87727301A= | CA1926080758 | PAPSS2 | c.898A= (p.Ser300=) c.883A= (p.Ser295=) | |
| 10 | g.87727301A>C | CA377489309 | PAPSS2 | c.898A>C (p.Ser300Arg) c.883A>C (p.Ser295Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727301A>G | CA377489310 | PAPSS2 | c.898A>G (p.Ser300Gly) c.883A>G (p.Ser295Gly) | |
| 10 | g.87727301A>T | CA377489311 | PAPSS2 | c.898A>T (p.Ser300Cys) c.883A>T (p.Ser295Cys) | |
| 10 | g.87727302G>A | CA377489312 | PAPSS2 | c.899G>A (p.Ser300Asn) c.884G>A (p.Ser295Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727302G>C | CA377489313 | PAPSS2 | c.899G>C (p.Ser300Thr) c.884G>C (p.Ser295Thr) | |
| 10 | g.87727302G= | CA1926080759 | PAPSS2 | c.899G= (p.Ser300=) c.884G= (p.Ser295=) | |
| 10 | g.87727302G>T | CA377489314 | PAPSS2 | c.899G>T (p.Ser300Ile) c.884G>T (p.Ser295Ile) | gnomAD v4 |
| 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) | |
| 10 | g.87727317T>C | CA377489345 | PAPSS2 | c.914T>C (p.Leu305Pro) c.899T>C (p.Leu300Pro) | dbSNP |
| 10 | g.87727317T>G | CA377489343 | PAPSS2 | c.914T>G (p.Leu305Arg) c.899T>G (p.Leu300Arg) | ClinVar dbSNP |
| 10 | g.87727318G>A | CA470668111 | PAPSS2 | c.915G>A (p.Leu305=) c.900G>A (p.Leu300=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727318G>C | CA470668112 | PAPSS2 | c.915G>C (p.Leu305=) c.900G>C (p.Leu300=) | |
| 10 | g.87727318G= | CA1926080766 | PAPSS2 | c.915G= (p.Leu305=) c.900G= (p.Leu300=) | |
| 10 | g.87727318G>T | CA470668114 | PAPSS2 | c.915G>T (p.Leu305=) c.900G>T (p.Leu300=) | dbSNP |
| 10 | g.87727319C>A | CA377489348 | PAPSS2 | c.916C>A (p.Pro306Thr) c.901C>A (p.Pro301Thr) | |
| 10 | g.87727319C>G | CA377489346 | PAPSS2 | c.916C>G (p.Pro306Ala) c.901C>G (p.Pro301Ala) | |
| 10 | g.87727319C>T | CA377489347 | PAPSS2 | c.916C>T (p.Pro306Ser) c.901C>T (p.Pro301Ser) | |
| 10 | g.87727320C>A | CA377489349 | PAPSS2 | c.917C>A (p.Pro306His) c.902C>A (p.Pro301His) | |
| 10 | g.87727320C>G | CA377489350 | PAPSS2 | c.917C>G (p.Pro306Arg) c.902C>G (p.Pro301Arg) | |
| 10 | g.87727320C>T | CA377489351 | PAPSS2 | c.917C>T (p.Pro306Leu) c.902C>T (p.Pro301Leu) | gnomAD v4 |
| 10 | g.87727321C>A | CA470668123 | PAPSS2 | c.918C>A (p.Pro306=) c.903C>A (p.Pro301=) | |
| 10 | g.87727321C= | CA1926080767 | PAPSS2 | c.918C= (p.Pro306=) c.903C= (p.Pro301=) | |
| 10 | g.87727321C>G | CA470668124 | PAPSS2 | c.918C>G (p.Pro306=) c.903C>G (p.Pro301=) | |
| 10 | g.87727321C>T | CA5589608 | PAPSS2 | c.918C>T (p.Pro306=) c.903C>T (p.Pro301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727322G>A | CA5589609 | PAPSS2 | c.919G>A (p.Val307Ile) c.904G>A (p.Val302Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.87727322G>C | CA377489353 | PAPSS2 | c.919G>C (p.Val307Leu) c.904G>C (p.Val302Leu) | |
| 10 | g.87727322G= | CA1926080768 | PAPSS2 | c.919G= (p.Val307=) c.904G= (p.Val302=) | |
| 10 | g.87727322G>T | CA377489352 | PAPSS2 | c.919G>T (p.Val307Phe) c.904G>T (p.Val302Phe) | |
| 10 | g.87727323T>A | CA377489354 | PAPSS2 | c.920T>A (p.Val307Asp) c.905T>A (p.Val302Asp) | |
| 10 | g.87727323T>C | CA377489355 | PAPSS2 | c.920T>C (p.Val307Ala) c.905T>C (p.Val302Ala) | |
| 10 | g.87727323T>G | CA377489356 | PAPSS2 | c.920T>G (p.Val307Gly) c.905T>G (p.Val302Gly) | |
| 10 | g.87727324C>A | CA470668135 | PAPSS2 | c.921C>A (p.Val307=) c.906C>A (p.Val302=) | |
| 10 | g.87727324C>G | CA470668137 | PAPSS2 | c.921C>G (p.Val307=) c.906C>G (p.Val302=) | |
| 10 | g.87727324C>T | CA470668138 | PAPSS2 | c.921C>T (p.Val307=) c.906C>T (p.Val302=) | |
| 10 | g.87727325T>A | CA377489357 | PAPSS2 | c.922T>A (p.Ser308Thr) c.907T>A (p.Ser303Thr) | |
| 10 | g.87727325T>C | CA377489358 | PAPSS2 | c.922T>C (p.Ser308Pro) c.907T>C (p.Ser303Pro) | |
| 10 | g.87727325T>G | CA377489359 | PAPSS2 | c.922T>G (p.Ser308Ala) c.907T>G (p.Ser303Ala) | |
| 10 | g.87727326C>A | CA377489360 | PAPSS2 | c.923C>A (p.Ser308Tyr) c.908C>A (p.Ser303Tyr) | |
| 10 | g.87727326C= | CA1926080769 | PAPSS2 | c.923C= (p.Ser308=) c.908C= (p.Ser303=) | |
| 10 | g.87727326C>G | CA377489361 | PAPSS2 | c.923C>G (p.Ser308Cys) c.908C>G (p.Ser303Cys) | |
| 10 | g.87727326C>T | CA211271699 | PAPSS2 | c.923C>T (p.Ser308Phe) c.908C>T (p.Ser303Phe) | dbSNP gnomAD v4 |
| 10 | g.87727327T>A | CA470668143 | PAPSS2 | c.924T>A (p.Ser308=) c.909T>A (p.Ser303=) | |
| 10 | g.87727327T>C | CA470668146 | PAPSS2 | c.924T>C (p.Ser308=) c.909T>C (p.Ser303=) | gnomAD v4 |
| 10 | g.87727327T>G | CA470668151 | PAPSS2 | c.924T>G (p.Ser308=) c.909T>G (p.Ser303=) | |
| 10 | g.87727328G>A | CA377489362 | PAPSS2 | c.925G>A (p.Ala309Thr) c.910G>A (p.Ala304Thr) | |
| 10 | g.87727328G>C | CA377489363 | PAPSS2 | c.925G>C (p.Ala309Pro) c.910G>C (p.Ala304Pro) | |
| 10 | g.87727328G>T | CA377489364 | PAPSS2 | c.925G>T (p.Ala309Ser) c.910G>T (p.Ala304Ser) | |
| 10 | g.87727329C>A | CA377489365 | PAPSS2 | c.926C>A (p.Ala309Glu) c.911C>A (p.Ala304Glu) | |
| 10 | g.87727329C>G | CA377489366 | PAPSS2 | c.926C>G (p.Ala309Gly) c.911C>G (p.Ala304Gly) | |
| 10 | g.87727329C>T | CA377489367 | PAPSS2 | c.926C>T (p.Ala309Val) c.911C>T (p.Ala304Val) | |
| 10 | g.87727330A>C | CA470668159 | PAPSS2 | c.927A>C (p.Ala309=) c.912A>C (p.Ala304=) | |
| 10 | g.87727330A>G | CA470668161 | PAPSS2 | c.927A>G (p.Ala309=) c.912A>G (p.Ala304=) | |
| 10 | g.87727330A>T | CA470668163 | PAPSS2 | c.927A>T (p.Ala309=) c.912A>T (p.Ala304=) | |
| 10 | g.87727331G>A | CA377489368 | PAPSS2 | c.928G>A (p.Glu310Lys) c.913G>A (p.Glu305Lys) | |
| 10 | g.87727331G>C | CA377489369 | PAPSS2 | c.928G>C (p.Glu310Gln) c.913G>C (p.Glu305Gln) | |
| 10 | g.87727331G>T | CA377489370 | PAPSS2 | c.928G>T (p.Glu310Ter) c.913G>T (p.Glu305Ter) | |
| 10 | g.87727332A>C | CA377489371 | PAPSS2 | c.929A>C (p.Glu310Ala) c.914A>C (p.Glu305Ala) | gnomAD v4 |
| 10 | g.87727332A>G | CA377489372 | PAPSS2 | c.929A>G (p.Glu310Gly) c.914A>G (p.Glu305Gly) | |
| 10 | g.87727332A>T | CA377489373 | PAPSS2 | c.929A>T (p.Glu310Val) c.914A>T (p.Glu305Val) | |
| 10 | g.87727333G>A | CA470668166 | PAPSS2 | c.930G>A (p.Glu310=) c.915G>A (p.Glu305=) | gnomAD v4 |
| 10 | g.87727333G>C | CA377489374 | PAPSS2 | c.930G>C (p.Glu310Asp) c.915G>C (p.Glu305Asp) | gnomAD v4 |
| 10 | g.87727333G= | CA1926080770 | PAPSS2 | c.930G= (p.Glu310=) c.915G= (p.Glu305=) | |
| 10 | g.87727333G>T | CA377489375 | PAPSS2 | c.930G>T (p.Glu310Asp) c.915G>T (p.Glu305Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727334G>A | CA377489376 | PAPSS2 | c.931G>A (p.Asp311Asn) c.916G>A (p.Asp306Asn) | dbSNP COSMIC |
| 10 | g.87727334G>C | CA5589610 | PAPSS2 | c.931G>C (p.Asp311His) c.916G>C (p.Asp306His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727334G= | CA1926080771 | PAPSS2 | c.931G= (p.Asp311=) c.916G= (p.Asp306=) | |
| 10 | g.87727334G>T | CA377489377 | PAPSS2 | c.931G>T (p.Asp311Tyr) c.916G>T (p.Asp306Tyr) | |
| 10 | g.87727335A>C | CA377489378 | PAPSS2 | c.932A>C (p.Asp311Ala) c.917A>C (p.Asp306Ala) | |
| 10 | g.87727335A>G | CA377489379 | PAPSS2 | c.932A>G (p.Asp311Gly) c.917A>G (p.Asp306Gly) | |
| 10 | g.87727335A>T | CA377489380 | PAPSS2 | c.932A>T (p.Asp311Val) c.917A>T (p.Asp306Val) | |
| 10 | g.87727336T>A | CA377489381 | PAPSS2 | c.933T>A (p.Asp311Glu) c.918T>A (p.Asp306Glu) | |
| 10 | g.87727336T>C | CA470668168 | PAPSS2 | c.933T>C (p.Asp311=) c.918T>C (p.Asp306=) | |
| 10 | g.87727336T>G | CA377489382 | PAPSS2 | c.933T>G (p.Asp311Glu) c.918T>G (p.Asp306Glu) | gnomAD v4 |
| 10 | g.87727337A>C | CA377489383 | PAPSS2 | c.934A>C (p.Lys312Gln) c.919A>C (p.Lys307Gln) | |
| 10 | g.87727337A>G | CA377489384 | PAPSS2 | c.934A>G (p.Lys312Glu) c.919A>G (p.Lys307Glu) | |
| 10 | g.87727337A>T | CA377489385 | PAPSS2 | c.934A>T (p.Lys312Ter) c.919A>T (p.Lys307Ter) | |
| 10 | g.87727338A>C | CA377489386 | PAPSS2 | c.935A>C (p.Lys312Thr) c.920A>C (p.Lys307Thr) | |
| 10 | g.87727338A>G | CA377489387 | PAPSS2 | c.935A>G (p.Lys312Arg) c.920A>G (p.Lys307Arg) | |
| 10 | g.87727338A>T | CA377489388 | PAPSS2 | c.935A>T (p.Lys312Met) c.920A>T (p.Lys307Met) | |
| 10 | g.87727339G>A | CA470668179 | PAPSS2 | c.936G>A (p.Lys312=) c.921G>A (p.Lys307=) | |
| 10 | g.87727339G>C | CA377489390 | PAPSS2 | c.936G>C (p.Lys312Asn) c.921G>C (p.Lys307Asn) | |
| 10 | g.87727339G>T | CA377489389 | PAPSS2 | c.936G>T (p.Lys312Asn) c.921G>T (p.Lys307Asn) | |
| 10 | g.87727340A>C | CA377489391 | PAPSS2 | c.937A>C (p.Thr313Pro) c.922A>C (p.Thr308Pro) | gnomAD v4 |
| 10 | g.87727340A>G | CA377489392 | PAPSS2 | c.937A>G (p.Thr313Ala) c.922A>G (p.Thr308Ala) | gnomAD v4 |
| 10 | g.87727340A>T | CA377489393 | PAPSS2 | c.937A>T (p.Thr313Ser) c.922A>T (p.Thr308Ser) | |
| 10 | g.87727341C>A | CA377489394 | PAPSS2 | c.938C>A (p.Thr313Lys) c.923C>A (p.Thr308Lys) | |
| 10 | g.87727341C>G | CA377489395 | PAPSS2 | c.938C>G (p.Thr313Arg) c.923C>G (p.Thr308Arg) | |
| 10 | g.87727341C>T | CA377489396 | PAPSS2 | c.938C>T (p.Thr313Ile) c.923C>T (p.Thr308Ile) | |
| 10 | g.87727342A>C | CA470668184 | PAPSS2 | c.939A>C (p.Thr313=) c.924A>C (p.Thr308=) | |
| 10 | g.87727342A>G | CA470668186 | PAPSS2 | c.939A>G (p.Thr313=) c.924A>G (p.Thr308=) | |
| 10 | g.87727342A>T | CA470668190 | PAPSS2 | c.939A>T (p.Thr313=) c.924A>T (p.Thr308=) | |
| 10 | g.87727343C>A | CA470668195 | PAPSS2 | c.940C>A (p.Arg314=) c.925C>A (p.Arg309=) | |
| 10 | g.87727343C= | CA1926080772 | PAPSS2 | c.940C= (p.Arg314=) c.925C= (p.Arg309=) | |
| 10 | g.87727343C>G | CA377489397 | PAPSS2 | c.940C>G (p.Arg314Gly) c.925C>G (p.Arg309Gly) | gnomAD v4 |
| 10 | g.87727343C>T | CA5589611 | PAPSS2 | c.940C>T (p.Arg314Trp) c.925C>T (p.Arg309Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727344_87727360del | CA2610038248 | PAPSS2 | c.941_957del (p.Arg314GlnfsTer18) c.926_942del (p.Arg309GlnfsTer18) | gnomAD v4 |
| 10 | g.87727344G>A | CA5589612 | PAPSS2 | c.941G>A (p.Arg314Gln) c.926G>A (p.Arg309Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727344G>C | CA377489398 | PAPSS2 | c.941G>C (p.Arg314Pro) c.926G>C (p.Arg309Pro) | |
| 10 | g.87727344G= | CA1926080773 | PAPSS2 | c.941G= (p.Arg314=) c.926G= (p.Arg309=) | |
| 10 | g.87727344G>T | CA377489399 | PAPSS2 | c.941G>T (p.Arg314Leu) c.926G>T (p.Arg309Leu) | |
| 10 | g.87727345G>A | CA470668207 | PAPSS2 | c.942G>A (p.Arg314=) c.927G>A (p.Arg309=) | COSMIC |
| 10 | g.87727345G>C | CA470668210 | PAPSS2 | c.942G>C (p.Arg314=) c.927G>C (p.Arg309=) | |
| 10 | g.87727345G>T | CA470668217 | PAPSS2 | c.942G>T (p.Arg314=) c.927G>T (p.Arg309=) | |
| 10 | g.87727346C>A | CA5589613 | PAPSS2 | c.943C>A (p.Leu315Met) c.928C>A (p.Leu310Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727346C= | CA1926080774 | PAPSS2 | c.943C= (p.Leu315=) c.928C= (p.Leu310=) | |
| 10 | g.87727346C>G | CA377489400 | PAPSS2 | c.943C>G (p.Leu315Val) c.928C>G (p.Leu310Val) | |
| 10 | g.87727346C>T | CA470668221 | PAPSS2 | c.943C>T (p.Leu315=) c.928C>T (p.Leu310=) | |
| 10 | g.87727347T>A | CA377489402 | PAPSS2 | c.944T>A (p.Leu315Gln) c.929T>A (p.Leu310Gln) | |
| 10 | g.87727347T>C | CA5589614 | PAPSS2 | c.944T>C (p.Leu315Pro) c.929T>C (p.Leu310Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727347T>G | CA377489401 | PAPSS2 | c.944T>G (p.Leu315Arg) c.929T>G (p.Leu310Arg) | |
| 10 | g.87727347T= | CA1926080775 | PAPSS2 | c.944T= (p.Leu315=) c.929T= (p.Leu310=) | |
| 10 | g.87727348G>A | CA470668226 | PAPSS2 | c.945G>A (p.Leu315=) c.930G>A (p.Leu310=) | ClinVar dbSNP |
| 10 | g.87727348G>C | CA470668227 | PAPSS2 | c.945G>C (p.Leu315=) c.930G>C (p.Leu310=) | |
| 10 | g.87727348G>T | CA470668228 | PAPSS2 | c.945G>T (p.Leu315=) c.930G>T (p.Leu310=) | |
| 10 | g.87727349G>A | CA377489403 | PAPSS2 | c.946G>A (p.Glu316Lys) c.931G>A (p.Glu311Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727349G>C | CA377489404 | PAPSS2 | c.946G>C (p.Glu316Gln) c.931G>C (p.Glu311Gln) | |
| 10 | g.87727349G= | CA1926080776 | PAPSS2 | c.946G= (p.Glu316=) c.931G= (p.Glu311=) | |
| 10 | g.87727349G>T | CA377489405 | PAPSS2 | c.946G>T (p.Glu316Ter) c.931G>T (p.Glu311Ter) | COSMIC |
| 10 | g.87727350A= | CA1926080777 | PAPSS2 | c.947A= (p.Glu316=) c.932A= (p.Glu311=) | |
| 10 | g.87727350A>C | CA377489406 | PAPSS2 | c.947A>C (p.Glu316Ala) c.932A>C (p.Glu311Ala) | |
| 10 | g.87727350A>G | CA377489407 | PAPSS2 | c.947A>G (p.Glu316Gly) c.932A>G (p.Glu311Gly) | dbSNP gnomAD v2 |
| 10 | g.87727350A>T | CA377489408 | PAPSS2 | c.947A>T (p.Glu316Val) c.932A>T (p.Glu311Val) | |
| 10 | g.87727351A>C | CA377489410 | PAPSS2 | c.948A>C (p.Glu316Asp) c.933A>C (p.Glu311Asp) | |
| 10 | g.87727351A>G | CA470668232 | PAPSS2 | c.948A>G (p.Glu316=) c.933A>G (p.Glu311=) | gnomAD v4 |
| 10 | g.87727351A>T | CA377489409 | PAPSS2 | c.948A>T (p.Glu316Asp) c.933A>T (p.Glu311Asp) | |
| 10 | g.87727352G>A | CA5589615 | PAPSS2 | c.949G>A (p.Gly317Arg) c.934G>A (p.Gly312Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727352G>C | CA377489411 | PAPSS2 | c.949G>C (p.Gly317Arg) c.934G>C (p.Gly312Arg) | |
| 10 | g.87727352G= | CA1926080778 | PAPSS2 | c.949G= (p.Gly317=) c.934G= (p.Gly312=) | |
| 10 | g.87727352G>T | CA377489412 | PAPSS2 | c.949G>T (p.Gly317Trp) c.934G>T (p.Gly312Trp) | |
| 10 | g.87727354del | CA2610038249 | PAPSS2 | c.951del (p.Cys318AlafsTer13) c.936del (p.Cys313AlafsTer13) | gnomAD v4 |
| 10 | g.87727353G>A | CA377489413 | PAPSS2 | c.950G>A (p.Gly317Glu) c.935G>A (p.Gly312Glu) | gnomAD v4 |
| 10 | g.87727353G>C | CA377489414 | PAPSS2 | c.950G>C (p.Gly317Ala) c.935G>C (p.Gly312Ala) | |
| 10 | g.87727353G= | CA1926080779 | PAPSS2 | c.950G= (p.Gly317=) c.935G= (p.Gly312=) | |
| 10 | g.87727353G>T | CA211271747 | PAPSS2 | c.950G>T (p.Gly317Val) c.935G>T (p.Gly312Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727354G>A | CA470668238 | PAPSS2 | c.951G>A (p.Gly317=) c.936G>A (p.Gly312=) | dbSNP gnomAD v4 |
| 10 | g.87727354G>C | CA470668240 | PAPSS2 | c.951G>C (p.Gly317=) c.936G>C (p.Gly312=) | |
| 10 | g.87727354G= | CA1926080780 | PAPSS2 | c.951G= (p.Gly317=) c.936G= (p.Gly312=) | |
| 10 | g.87727354G>T | CA470668239 | PAPSS2 | c.951G>T (p.Gly317=) c.936G>T (p.Gly312=) | |
| 10 | g.87727355T>A | CA377489417 | PAPSS2 | c.952T>A (p.Cys318Ser) c.937T>A (p.Cys313Ser) | |
| 10 | g.87727355T>C | CA377489415 | PAPSS2 | c.952T>C (p.Cys318Arg) c.937T>C (p.Cys313Arg) | COSMIC |
| 10 | g.87727355T>G | CA377489416 | PAPSS2 | c.952T>G (p.Cys318Gly) c.937T>G (p.Cys313Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727355T= | CA1926080781 | PAPSS2 | c.952T= (p.Cys318=) c.937T= (p.Cys313=) | |
| 10 | g.87727356G>A | CA377489418 | PAPSS2 | c.953G>A (p.Cys318Tyr) c.938G>A (p.Cys313Tyr) | gnomAD v4 COSMIC |
| 10 | g.87727356G>C | CA377489419 | PAPSS2 | c.953G>C (p.Cys318Ser) c.938G>C (p.Cys313Ser) | |
| 10 | g.87727356G>T | CA377489420 | PAPSS2 | c.953G>T (p.Cys318Phe) c.938G>T (p.Cys313Phe) | |
| 10 | g.87727357C>A | CA377489421 | PAPSS2 | c.954C>A (p.Cys318Ter) c.939C>A (p.Cys313Ter) | |
| 10 | g.87727357C= | CA1926080782 | PAPSS2 | c.954C= (p.Cys318=) c.939C= (p.Cys313=) | |
| 10 | g.87727357C>G | CA377489422 | PAPSS2 | c.954C>G (p.Cys318Trp) c.939C>G (p.Cys313Trp) | |
| 10 | g.87727357C>T | CA470668252 | PAPSS2 | c.954C>T (p.Cys318=) c.939C>T (p.Cys313=) | dbSNP gnomAD v4 |
| 10 | g.87727358A>C | CA377489423 | PAPSS2 | c.955A>C (p.Ser319Arg) c.940A>C (p.Ser314Arg) | |
| 10 | g.87727358A>G | CA377489424 | PAPSS2 | c.955A>G (p.Ser319Gly) c.940A>G (p.Ser314Gly) | ClinVar gnomAD v4 |
| 10 | g.87727358A>T | CA377489425 | PAPSS2 | c.955A>T (p.Ser319Cys) c.940A>T (p.Ser314Cys) | |
| 10 | g.87727359G>A | CA377489426 | PAPSS2 | c.956G>A (p.Ser319Asn) c.941G>A (p.Ser314Asn) | gnomAD v4 |
| 10 | g.87727359G>C | CA377489427 | PAPSS2 | c.956G>C (p.Ser319Thr) c.941G>C (p.Ser314Thr) | |
| 10 | g.87727359G>T | CA377489428 | PAPSS2 | c.956G>T (p.Ser319Ile) c.941G>T (p.Ser314Ile) | |
| 10 | g.87727360C>A | CA377489429 | PAPSS2 | c.957C>A (p.Ser319Arg) c.942C>A (p.Ser314Arg) | |
| 10 | g.87727360C>G | CA377489430 | PAPSS2 | c.957C>G (p.Ser319Arg) c.942C>G (p.Ser314Arg) | |
| 10 | g.87727360C>T | CA470668269 | PAPSS2 | c.957C>T (p.Ser319=) c.942C>T (p.Ser314=) | |
| 10 | g.87727360_87727361delinsCA | CA1926080783 | PAPSS2 | c.957_958delinsCA (p.Ser319=) c.942_943delinsCA (p.Ser314=) | |
| 10 | g.87727361A>C | CA377489433 | PAPSS2 | c.958A>C (p.Lys320Gln) c.943A>C (p.Lys315Gln) | |
| 10 | g.87727361A>G | CA377489431 | PAPSS2 | c.958A>G (p.Lys320Glu) c.943A>G (p.Lys315Glu) | gnomAD v4 |
| 10 | g.87727361A>T | CA377489432 | PAPSS2 | c.958A>T (p.Lys320Ter) c.943A>T (p.Lys315Ter) | |
| 10 | g.87727362del | CA1926080784 | PAPSS2 | c.959del (p.Lys320SerfsTer11) c.944del (p.Lys315SerfsTer11) | dbSNP |
| 10 | g.87727362A= | CA1926080785 | PAPSS2 | c.959A= (p.Lys320=) c.944A= (p.Lys315=) | |
| 10 | g.87727362A>C | CA377489434 | PAPSS2 | c.959A>C (p.Lys320Thr) c.944A>C (p.Lys315Thr) | |
| 10 | g.87727362A>G | CA377489435 | PAPSS2 | c.959A>G (p.Lys320Arg) c.944A>G (p.Lys315Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727362A>T | CA377489436 | PAPSS2 | c.959A>T (p.Lys320Met) c.944A>T (p.Lys315Met) | gnomAD v4 |
| 10 | g.87727363G>A | CA470668276 | PAPSS2 | c.960G>A (p.Lys320=) c.945G>A (p.Lys315=) | gnomAD v4 |
| 10 | g.87727363G>C | CA377489437 | PAPSS2 | c.960G>C (p.Lys320Asn) c.945G>C (p.Lys315Asn) | |
| 10 | g.87727363G>T | CA377489438 | PAPSS2 | c.960G>T (p.Lys320Asn) c.945G>T (p.Lys315Asn) | |
| 10 | g.87727364T>A | CA377489439 | PAPSS2 | c.961T>A (p.Phe321Ile) c.946T>A (p.Phe316Ile) | |
| 10 | g.87727364T>C | CA377489440 | PAPSS2 | c.961T>C (p.Phe321Leu) c.946T>C (p.Phe316Leu) | |
| 10 | g.87727364T>G | CA377489441 | PAPSS2 | c.961T>G (p.Phe321Val) c.946T>G (p.Phe316Val) | |
| 10 | g.87727365T>A | CA377489442 | PAPSS2 | c.962T>A (p.Phe321Tyr) c.947T>A (p.Phe316Tyr) | |
| 10 | g.87727365T>C | CA377489443 | PAPSS2 | c.962T>C (p.Phe321Ser) c.947T>C (p.Phe316Ser) | |
| 10 | g.87727365T>G | CA377489444 | PAPSS2 | c.962T>G (p.Phe321Cys) c.947T>G (p.Phe316Cys) | |
| 10 | g.87727366T>A | CA377489445 | PAPSS2 | c.963T>A (p.Phe321Leu) c.948T>A (p.Phe316Leu) | |
| 10 | g.87727366T>C | CA211271749 | PAPSS2 | c.963T>C (p.Phe321=) c.948T>C (p.Phe316=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.87727366T>G | CA377489446 | PAPSS2 | c.963T>G (p.Phe321Leu) c.948T>G (p.Phe316Leu) | |
| 10 | g.87727366T= | CA1926080786 | PAPSS2 | c.963T= (p.Phe321=) c.948T= (p.Phe316=) | |
| 10 | g.87727367G>A | CA377489449 | PAPSS2 | c.964G>A (p.Val322Ile) c.949G>A (p.Val317Ile) | |
| 10 | g.87727367G>C | CA377489447 | PAPSS2 | c.964G>C (p.Val322Leu) c.949G>C (p.Val317Leu) | dbSNP |
| 10 | g.87727367G= | CA1926080787 | PAPSS2 | c.964G= (p.Val322=) c.949G= (p.Val317=) | |
| 10 | g.87727367G>T | CA377489448 | PAPSS2 | c.964G>T (p.Val322Phe) c.949G>T (p.Val317Phe) |