Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.87727309del | CA930899645 | PAPSS2 | c.906del (p.Ile303LeufsTer28) c.891del (p.Ile298LeufsTer28) | dbSNP gnomAD v3 gnomAD v4 |
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) | |
10 | g.87727368T>A | CA377489450 | PAPSS2 | c.965T>A (p.Val322Asp) c.950T>A (p.Val317Asp) | gnomAD v4 |
10 | g.87727368T>C | CA377489451 | PAPSS2 | c.965T>C (p.Val322Ala) c.950T>C (p.Val317Ala) | |
10 | g.87727368T>G | CA377489452 | PAPSS2 | c.965T>G (p.Val322Gly) c.950T>G (p.Val317Gly) | |
10 | g.87727369C>A | CA470668298 | PAPSS2 | c.966C>A (p.Val322=) c.951C>A (p.Val317=) | |
10 | g.87727369C>G | CA470668299 | PAPSS2 | c.966C>G (p.Val322=) c.951C>G (p.Val317=) | |
10 | g.87727369C>T | CA470668300 | PAPSS2 | c.966C>T (p.Val322=) c.951C>T (p.Val317=) | gnomAD v4 |
10 | g.87727370C>A | CA377489453 | PAPSS2 | c.967C>A (p.Leu323Met) c.952C>A (p.Leu318Met) | |
10 | g.87727370C= | CA1926080788 | PAPSS2 | c.967C= (p.Leu323=) c.952C= (p.Leu318=) | |
10 | g.87727370C>G | CA377489454 | PAPSS2 | c.967C>G (p.Leu323Val) c.952C>G (p.Leu318Val) | |
10 | g.87727370C>T | CA5589616 | PAPSS2 | c.967C>T (p.Leu323=) c.952C>T (p.Leu318=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727371T>A | CA377489455 | PAPSS2 | c.968T>A (p.Leu323Gln) c.953T>A (p.Leu318Gln) | |
10 | g.87727371T>C | CA5589617 | PAPSS2 | c.968T>C (p.Leu323Pro) c.953T>C (p.Leu318Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727371T>G | CA377489456 | PAPSS2 | c.968T>G (p.Leu323Arg) c.953T>G (p.Leu318Arg) | |
10 | g.87727371T= | CA1926080789 | PAPSS2 | c.968T= (p.Leu323=) c.953T= (p.Leu318=) | |
10 | g.87727372G>A | CA470668312 | PAPSS2 | c.969G>A (p.Leu323=) c.954G>A (p.Leu318=) | |
10 | g.87727372G>C | CA470668318 | PAPSS2 | c.969G>C (p.Leu323=) c.954G>C (p.Leu318=) | |
10 | g.87727372G>T | CA470668320 | PAPSS2 | c.969G>T (p.Leu323=) c.954G>T (p.Leu318=) | |
10 | g.87727373G>A | CA377489457 | PAPSS2 | c.970G>A (p.Ala324Thr) c.955G>A (p.Ala319Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87727373G>C | CA377489458 | PAPSS2 | c.970G>C (p.Ala324Pro) c.955G>C (p.Ala319Pro) | |
10 | g.87727373G= | CA1926080790 | PAPSS2 | c.970G= (p.Ala324=) c.955G= (p.Ala319=) | |
10 | g.87727373G>T | CA377489459 | PAPSS2 | c.970G>T (p.Ala324Ser) c.955G>T (p.Ala319Ser) | |
10 | g.87727374C>A | CA377489460 | PAPSS2 | c.971C>A (p.Ala324Glu) c.956C>A (p.Ala319Glu) | gnomAD v4 |
10 | g.87727374C>G | CA377489462 | PAPSS2 | c.971C>G (p.Ala324Gly) c.956C>G (p.Ala319Gly) | |
10 | g.87727374C>T | CA377489461 | PAPSS2 | c.971C>T (p.Ala324Val) c.956C>T (p.Ala319Val) | |
10 | g.87727375A= | CA1926080791 | PAPSS2 | c.972A= (p.Ala324=) c.957A= (p.Ala319=) | |
10 | g.87727375A>C | CA470668327 | PAPSS2 | c.972A>C (p.Ala324=) c.957A>C (p.Ala319=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.87727375A>G | CA470668329 | PAPSS2 | c.972A>G (p.Ala324=) c.957A>G (p.Ala319=) | |
10 | g.87727375A>T | CA470668326 | PAPSS2 | c.972A>T (p.Ala324=) c.957A>T (p.Ala319=) | |
10 | g.87727376C>A | CA377489463 | PAPSS2 | c.973C>A (p.His325Asn) c.958C>A (p.His320Asn) | |
10 | g.87727376C>G | CA377489465 | PAPSS2 | c.973C>G (p.His325Asp) c.958C>G (p.His320Asp) | |
10 | g.87727376C>T | CA377489464 | PAPSS2 | c.973C>T (p.His325Tyr) c.958C>T (p.His320Tyr) | |
10 | g.87727377A>C | CA377489466 | PAPSS2 | c.974A>C (p.His325Pro) c.959A>C (p.His320Pro) | |
10 | g.87727377A>G | CA377489468 | PAPSS2 | c.974A>G (p.His325Arg) c.959A>G (p.His320Arg) | gnomAD v4 |
10 | g.87727377A>T | CA377489467 | PAPSS2 | c.974A>T (p.His325Leu) c.959A>T (p.His320Leu) | |
10 | g.87727378T>A | CA377489469 | PAPSS2 | c.975T>A (p.His325Gln) c.960T>A (p.His320Gln) | |
10 | g.87727378T>C | CA470668340 | PAPSS2 | c.975T>C (p.His325=) c.960T>C (p.His320=) | |
10 | g.87727378T>G | CA377489470 | PAPSS2 | c.975T>G (p.His325Gln) c.960T>G (p.His320Gln) | |
10 | g.87727379G>A | CA377489471 | PAPSS2 | c.976G>A (p.Gly326Ser) c.961G>A (p.Gly321Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727379G>C | CA377489472 | PAPSS2 | c.976G>C (p.Gly326Arg) c.961G>C (p.Gly321Arg) | |
10 | g.87727379G= | CA1926080792 | PAPSS2 | c.976G= (p.Gly326=) c.961G= (p.Gly321=) | |
10 | g.87727379G>T | CA377489473 | PAPSS2 | c.976G>T (p.Gly326Cys) c.961G>T (p.Gly321Cys) | |
10 | g.87727380G>A | CA377489474 | PAPSS2 | c.977G>A (p.Gly326Asp) c.962G>A (p.Gly321Asp) | |
10 | g.87727380G>C | CA377489475 | PAPSS2 | c.977G>C (p.Gly326Ala) c.962G>C (p.Gly321Ala) | gnomAD v4 |
10 | g.87727380G>T | CA377489476 | PAPSS2 | c.977G>T (p.Gly326Val) c.962G>T (p.Gly321Val) | |
10 | g.87727381T>A | CA470668347 | PAPSS2 | c.978T>A (p.Gly326=) c.963T>A (p.Gly321=) | |
10 | g.87727381T>C | CA5589618 | PAPSS2 | c.978T>C (p.Gly326=) c.963T>C (p.Gly321=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727381T>G | CA470668348 | PAPSS2 | c.978T>G (p.Gly326=) c.963T>G (p.Gly321=) | gnomAD v4 |
10 | g.87727381T= | CA1926080793 | PAPSS2 | c.978T= (p.Gly326=) c.963T= (p.Gly321=) | |
10 | g.87727382G>A | CA377489477 | PAPSS2 | c.979G>A (p.Gly327Arg) c.964G>A (p.Gly322Arg) | |
10 | g.87727382G>C | CA377489478 | PAPSS2 | c.979G>C (p.Gly327Arg) c.964G>C (p.Gly322Arg) | |
10 | g.87727382G>T | CA377489479 | PAPSS2 | c.979G>T (p.Gly327Ter) c.964G>T (p.Gly322Ter) | |
10 | g.87727383G>A | CA377489482 | PAPSS2 | c.980G>A (p.Gly327Glu) c.965G>A (p.Gly322Glu) | dbSNP |
10 | g.87727383G>C | CA377489480 | PAPSS2 | c.980G>C (p.Gly327Ala) c.965G>C (p.Gly322Ala) | |
10 | g.87727383G= | CA1926080794 | PAPSS2 | c.980G= (p.Gly327=) c.965G= (p.Gly322=) | |
10 | g.87727383G>T | CA377489481 | PAPSS2 | c.980G>T (p.Gly327Val) c.965G>T (p.Gly322Val) | |
10 | g.87727383_87727384delinsGA | CA1926080795 | PAPSS2 | c.980_981delinsGA (p.Gly327=) c.965_966delinsGA (p.Gly322=) | |
10 | g.87727384del | CA930899664 | PAPSS2 | c.981del (p.Arg328GlyfsTer3) c.966del (p.Arg323GlyfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87727384A= | CA1926080796 | PAPSS2 | c.981A= (p.Gly327=) c.966A= (p.Gly322=) | |
10 | g.87727384A>C | CA470668607 | PAPSS2 | c.981A>C (p.Gly327=) c.966A>C (p.Gly322=) | |
10 | g.87727384A>G | CA470668615 | PAPSS2 | c.981A>G (p.Gly327=) c.966A>G (p.Gly322=) | ClinVar dbSNP gnomAD v4 |
10 | g.87727384A>T | CA470668616 | PAPSS2 | c.981A>T (p.Gly327=) c.966A>T (p.Gly322=) | |
10 | g.87727385C>A | CA470668619 | PAPSS2 | c.982C>A (p.Arg328=) c.967C>A (p.Arg323=) | |
10 | g.87727385C= | CA1926080797 | PAPSS2 | c.982C= (p.Arg328=) c.967C= (p.Arg323=) | |
10 | g.87727385C>G | CA377489483 | PAPSS2 | c.982C>G (p.Arg328Gly) c.967C>G (p.Arg323Gly) | |
10 | g.87727385C>T | CA5589619 | PAPSS2 | c.982C>T (p.Arg328Trp) c.967C>T (p.Arg323Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.87727386G>A | CA5589620 | PAPSS2 | c.983G>A (p.Arg328Gln) c.968G>A (p.Arg323Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.87727386G>C | CA377489484 | PAPSS2 | c.983G>C (p.Arg328Pro) c.968G>C (p.Arg323Pro) | |
10 | g.87727386G= | CA1926080798 | PAPSS2 | c.983G= (p.Arg328=) c.968G= (p.Arg323=) | |
10 | g.87727386G>T | CA377489485 | PAPSS2 | c.983G>T (p.Arg328Leu) c.968G>T (p.Arg323Leu) | |
10 | g.87727387G>A | CA470668632 | PAPSS2 | c.984G>A (p.Arg328=) c.969G>A (p.Arg323=) | |
10 | g.87727387G>C | CA470668635 | PAPSS2 | c.984G>C (p.Arg328=) c.969G>C (p.Arg323=) | |
10 | g.87727387G>T | CA470668637 | PAPSS2 | c.984G>T (p.Arg328=) c.969G>T (p.Arg323=) | |
10 | g.87727388A= | CA1926080799 | PAPSS2 | c.985A= (p.Arg329=) c.970A= (p.Arg324=) | |
10 | g.87727388A>C | CA470668638 | PAPSS2 | c.985A>C (p.Arg329=) c.970A>C (p.Arg324=) | |
10 | g.87727388A>G | CA377489486 | PAPSS2 | c.985A>G (p.Arg329Gly) c.970A>G (p.Arg324Gly) | dbSNP |
10 | g.87727388A>T | CA377489487 | PAPSS2 | c.985A>T (p.Arg329Trp) c.970A>T (p.Arg324Trp) | |
10 | g.87727389G>A | CA377489488 | PAPSS2 | c.986G>A (p.Arg329Lys) c.971G>A (p.Arg324Lys) | COSMIC |
10 | g.87727389G>C | CA377489489 | PAPSS2 | c.986G>C (p.Arg329Thr) c.971G>C (p.Arg324Thr) | |
10 | g.87727389G>T | CA377489490 | PAPSS2 | c.986G>T (p.Arg329Met) c.971G>T (p.Arg324Met) | |
10 | g.87727390G>A | CA5589621 | PAPSS2 | c.987G>A (p.Arg329=) c.972G>A (p.Arg324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727390G>C | CA377489492 | PAPSS2 | c.987G>C (p.Arg329Ser) c.972G>C (p.Arg324Ser) | |
10 | g.87727390G= | CA1926080800 | PAPSS2 | c.987G= (p.Arg329=) c.972G= (p.Arg324=) | |
10 | g.87727390G>T | CA377489491 | PAPSS2 | c.987G>T (p.Arg329Ser) c.972G>T (p.Arg324Ser) | |
10 | g.87727391G>A | CA377489493 | PAPSS2 | c.988G>A (p.Val330Ile) c.973G>A (p.Val325Ile) | dbSNP COSMIC |
10 | g.87727391G>C | CA377489494 | PAPSS2 | c.988G>C (p.Val330Leu) c.973G>C (p.Val325Leu) | |
10 | g.87727391G= | CA1926080801 | PAPSS2 | c.988G= (p.Val330=) c.973G= (p.Val325=) | |
10 | g.87727391G>T | CA377489495 | PAPSS2 | c.988G>T (p.Val330Leu) c.973G>T (p.Val325Leu) | |
10 | g.87727392T>A | CA377489496 | PAPSS2 | c.989T>A (p.Val330Glu) c.974T>A (p.Val325Glu) | |
10 | g.87727392T>C | CA377489497 | PAPSS2 | c.989T>C (p.Val330Ala) c.974T>C (p.Val325Ala) | |
10 | g.87727392T>G | CA377489498 | PAPSS2 | c.989T>G (p.Val330Gly) c.974T>G (p.Val325Gly) | dbSNP |
10 | g.87727392T= | CA1926080802 | PAPSS2 | c.989T= (p.Val330=) c.974T= (p.Val325=) | |
10 | g.87727393A= | CA1926080803 | PAPSS2 | c.990A= (p.Val330=) c.975A= (p.Val325=) | |
10 | g.87727393A>C | CA470668659 | PAPSS2 | c.990A>C (p.Val330=) c.975A>C (p.Val325=) | |
10 | g.87727393A>G | CA5589622 | PAPSS2 | c.990A>G (p.Val330=) c.975A>G (p.Val325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727393A>T | CA470668663 | PAPSS2 | c.990A>T (p.Val330=) c.975A>T (p.Val325=) | |
10 | g.87727394G>A | CA377489499 | PAPSS2 | c.991G>A (p.Ala331Thr) c.976G>A (p.Ala326Thr) | gnomAD v4 |
10 | g.87727394G>C | CA377489500 | PAPSS2 | c.991G>C (p.Ala331Pro) c.976G>C (p.Ala326Pro) | |
10 | g.87727394G>T | CA377489501 | PAPSS2 | c.991G>T (p.Ala331Ser) c.976G>T (p.Ala326Ser) | |
10 | g.87727395C>A | CA377489502 | PAPSS2 | c.992C>A (p.Ala331Asp) c.977C>A (p.Ala326Asp) | |
10 | g.87727395C>G | CA377489503 | PAPSS2 | c.992C>G (p.Ala331Gly) c.977C>G (p.Ala326Gly) | |
10 | g.87727395C>T | CA377489504 | PAPSS2 | c.992C>T (p.Ala331Val) c.977C>T (p.Ala326Val) | |
10 | g.87727396T>A | CA470668672 | PAPSS2 | c.993T>A (p.Ala331=) c.978T>A (p.Ala326=) | |
10 | g.87727396T>C | CA470668676 | PAPSS2 | c.993T>C (p.Ala331=) c.978T>C (p.Ala326=) | gnomAD v4 |
10 | g.87727396T>G | CA470668675 | PAPSS2 | c.993T>G (p.Ala331=) c.978T>G (p.Ala326=) | |
10 | g.87727397A= | CA1926063537 | PAPSS2 | c.994A= (p.Ile332=) c.979A= (p.Ile327=) | |
10 | g.87727397A>C | CA377489505 | PAPSS2 | c.994A>C (p.Ile332Leu) c.979A>C (p.Ile327Leu) | |
10 | g.87727397A>G | CA211271774 | PAPSS2 | c.994A>G (p.Ile332Val) c.979A>G (p.Ile327Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727397A>T | CA377489506 | PAPSS2 | c.994A>T (p.Ile332Phe) c.979A>T (p.Ile327Phe) | |
10 | g.87727398T>A | CA377489507 | PAPSS2 | c.995T>A (p.Ile332Asn) c.980T>A (p.Ile327Asn) | |
10 | g.87727398T>C | CA377489508 | PAPSS2 | c.995T>C (p.Ile332Thr) c.980T>C (p.Ile327Thr) | |
10 | g.87727398T>G | CA377489509 | PAPSS2 | c.995T>G (p.Ile332Ser) c.980T>G (p.Ile327Ser) | |
10 | g.87727399C>A | CA470668688 | PAPSS2 | c.996C>A (p.Ile332=) c.981C>A (p.Ile327=) | |
10 | g.87727399C>G | CA377489510 | PAPSS2 | c.996C>G (p.Ile332Met) c.981C>G (p.Ile327Met) | |
10 | g.87727399C>T | CA470668690 | PAPSS2 | c.996C>T (p.Ile332=) c.981C>T (p.Ile327=) | |
10 | g.87727400T>A | CA377489511 | PAPSS2 | c.997T>A (p.Leu333Ile) c.982T>A (p.Leu328Ile) | |
10 | g.87727400T>C | CA470668694 | PAPSS2 | c.997T>C (p.Leu333=) c.982T>C (p.Leu328=) | |
10 | g.87727400T>G | CA377489512 | PAPSS2 | c.997T>G (p.Leu333Val) c.982T>G (p.Leu328Val) | |
10 | g.87727401T>A | CA377489513 | PAPSS2 | c.998T>A (p.Leu333Ter) c.983T>A (p.Leu328Ter) | ClinVar |
10 | g.87727401T>C | CA377489514 | PAPSS2 | c.998T>C (p.Leu333Ser) c.983T>C (p.Leu328Ser) | |
10 | g.87727401T>G | CA377489515 | PAPSS2 | c.998T>G (p.Leu333Ter) c.983T>G (p.Leu328Ter) | |
10 | g.87727402A>C | CA377489516 | PAPSS2 | c.999A>C (p.Leu333Phe) c.984A>C (p.Leu328Phe) | |
10 | g.87727402A>G | CA470668704 | PAPSS2 | c.999A>G (p.Leu333=) c.984A>G (p.Leu328=) | COSMIC |
10 | g.87727402A>T | CA377489517 | PAPSS2 | c.999A>T (p.Leu333Phe) c.984A>T (p.Leu328Phe) | |
10 | g.87727403C>A | CA470668710 | PAPSS2 | c.1000C>A (p.Arg334=) c.985C>A (p.Arg329=) | |
10 | g.87727403C= | CA1926063538 | PAPSS2 | c.1000C= (p.Arg334=) c.985C= (p.Arg329=) | |
10 | g.87727403C>G | CA377489518 | PAPSS2 | c.1000C>G (p.Arg334Gly) c.985C>G (p.Arg329Gly) | |
10 | g.87727403C>T | CA118420 | PAPSS2 | c.1000C>T (p.Arg334Ter) c.985C>T (p.Arg329Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727404G>A | CA5589623 | PAPSS2 | c.1001G>A (p.Arg334Gln) c.986G>A (p.Arg329Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727404G>C | CA377489520 | PAPSS2 | c.1001G>C (p.Arg334Pro) c.986G>C (p.Arg329Pro) | |
10 | g.87727404G= | CA1926063539 | PAPSS2 | c.1001G= (p.Arg334=) c.986G= (p.Arg329=) | |
10 | g.87727404G>T | CA377489519 | PAPSS2 | c.1001G>T (p.Arg334Leu) c.986G>T (p.Arg329Leu) | |
10 | g.87727405A>C | CA470668723 | PAPSS2 | c.1002A>C (p.Arg334=) c.987A>C (p.Arg329=) | |
10 | g.87727405A>G | CA470668724 | PAPSS2 | c.1002A>G (p.Arg334=) c.987A>G (p.Arg329=) | |
10 | g.87727405A>T | CA470668726 | PAPSS2 | c.1002A>T (p.Arg334=) c.987A>T (p.Arg329=) | |
10 | g.87727406G>A | CA377489521 | PAPSS2 | c.1003G>A (p.Asp335Asn) c.988G>A (p.Asp330Asn) | dbSNP gnomAD v2 |
10 | g.87727406G>C | CA377489522 | PAPSS2 | c.1003G>C (p.Asp335His) c.988G>C (p.Asp330His) | |
10 | g.87727406G= | CA1926063540 | PAPSS2 | c.1003G= (p.Asp335=) c.988G= (p.Asp330=) | |
10 | g.87727406G>T | CA377489523 | PAPSS2 | c.1003G>T (p.Asp335Tyr) c.988G>T (p.Asp330Tyr) | |
10 | g.87727407A= | CA1926063541 | PAPSS2 | c.1004A= (p.Asp335=) c.989A= (p.Asp330=) | |
10 | g.87727407A>C | CA377489524 | PAPSS2 | c.1004A>C (p.Asp335Ala) c.989A>C (p.Asp330Ala) | |
10 | g.87727407A>G | CA377489525 | PAPSS2 | c.1004A>G (p.Asp335Gly) c.989A>G (p.Asp330Gly) | dbSNP |
10 | g.87727407A>T | CA377489526 | PAPSS2 | c.1004A>T (p.Asp335Val) c.989A>T (p.Asp330Val) | |
10 | g.87727408C>A | CA377489527 | PAPSS2 | c.1005C>A (p.Asp335Glu) c.990C>A (p.Asp330Glu) | |
10 | g.87727408C= | CA1926063542 | PAPSS2 | c.1005C= (p.Asp335=) c.990C= (p.Asp330=) | |
10 | g.87727408C>G | CA377489528 | PAPSS2 | c.1005C>G (p.Asp335Glu) c.990C>G (p.Asp330Glu) | |
10 | g.87727408C>T | CA5589624 | PAPSS2 | c.1005C>T (p.Asp335=) c.990C>T (p.Asp330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |