Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.80484435C>A | CA385883444 | PTPRQ | c.1189C>A (p.Pro397Thr) c.1315C>A (p.Pro439Thr) c.1855C>A (p.Pro619Thr) n.1992C>A | |
12 | g.80484435C>G | CA385883446 | PTPRQ | c.1189C>G (p.Pro397Ala) c.1315C>G (p.Pro439Ala) c.1855C>G (p.Pro619Ala) n.1992C>G | gnomAD v4 |
12 | g.80484435C>T | CA385883449 | PTPRQ | c.1189C>T (p.Pro397Ser) c.1315C>T (p.Pro439Ser) c.1855C>T (p.Pro619Ser) n.1992C>T | gnomAD v4 |
12 | g.80484436C>A | CA385883452 | PTPRQ | c.1190C>A (p.Pro397Gln) c.1316C>A (p.Pro439Gln) c.1856C>A (p.Pro619Gln) n.1993C>A | gnomAD v4 |
12 | g.80484436C>G | CA385883455 | PTPRQ | c.1190C>G (p.Pro397Arg) c.1316C>G (p.Pro439Arg) c.1856C>G (p.Pro619Arg) n.1993C>G | |
12 | g.80484436C>T | CA385883457 | PTPRQ | c.1190C>T (p.Pro397Leu) c.1316C>T (p.Pro439Leu) c.1856C>T (p.Pro619Leu) n.1993C>T | gnomAD v4 |
12 | g.80484436_80484437delinsCA | CA2049270689 | PTPRQ | c.1190_1191delinsCA (p.Pro397=) c.1316_1317delinsCA (p.Pro439=) c.1856_1857delinsCA (p.Pro619=) n.1993_1994delinsCA | |
12 | g.80484437del | CA949699405 | PTPRQ | c.1191del (p.Ala399GlnfsTer10) c.1317del (p.Ala441GlnfsTer10) c.1857del (p.Ala621GlnfsTer10) n.1994del | dbSNP gnomAD v3 gnomAD v4 |
12 | g.80484437A>C | CA480815448 | PTPRQ | c.1191A>C (p.Pro397=) c.1317A>C (p.Pro439=) c.1857A>C (p.Pro619=) n.1994A>C | |
12 | g.80484437A>G | CA480815449 | PTPRQ | c.1191A>G (p.Pro397=) c.1317A>G (p.Pro439=) c.1857A>G (p.Pro619=) n.1994A>G | gnomAD v4 |
12 | g.80484437A>T | CA480815447 | PTPRQ | c.1191A>T (p.Pro397=) c.1317A>T (p.Pro439=) c.1857A>T (p.Pro619=) n.1994A>T | |
12 | g.80484438G>A | CA385883461 | PTPRQ | c.1192G>A (p.Gly398Arg) c.1318G>A (p.Gly440Arg) c.1858G>A (p.Gly620Arg) n.1995G>A | |
12 | g.80484438G>C | CA385883463 | PTPRQ | c.1192G>C (p.Gly398Arg) c.1318G>C (p.Gly440Arg) c.1858G>C (p.Gly620Arg) n.1995G>C | |
12 | g.80484438G>T | CA385883466 | PTPRQ | c.1192G>T (p.Gly398Trp) c.1318G>T (p.Gly440Trp) c.1858G>T (p.Gly620Trp) n.1995G>T | gnomAD v4 |
12 | g.80484441del | CA2620023740 | PTPRQ | c.1195del (p.Ala399GlnfsTer10) c.1321del (p.Ala441GlnfsTer10) c.1861del (p.Ala621GlnfsTer10) n.1998del | gnomAD v4 |
12 | g.80484439G>A | CA385883470 | PTPRQ | c.1193G>A (p.Gly398Glu) c.1319G>A (p.Gly440Glu) c.1859G>A (p.Gly620Glu) n.1996G>A | gnomAD v4 |
12 | g.80484439G>C | CA6702402 | PTPRQ | c.1193G>C (p.Gly398Ala) c.1319G>C (p.Gly440Ala) c.1859G>C (p.Gly620Ala) n.1996G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.80484439G= | CA2049270690 | PTPRQ | c.1193G= (p.Gly398=) c.1319G= (p.Gly440=) c.1859G= (p.Gly620=) n.1996G= | |
12 | g.80484439G>T | CA385883474 | PTPRQ | c.1193G>T (p.Gly398Val) c.1319G>T (p.Gly440Val) c.1859G>T (p.Gly620Val) n.1996G>T | gnomAD v4 |
12 | g.80484440G>A | CA480815452 | PTPRQ | c.1194G>A (p.Gly398=) c.1320G>A (p.Gly440=) c.1860G>A (p.Gly620=) n.1997G>A | |
12 | g.80484440G>C | CA480815450 | PTPRQ | c.1194G>C (p.Gly398=) c.1320G>C (p.Gly440=) c.1860G>C (p.Gly620=) n.1997G>C | |
12 | g.80484440G>T | CA480815451 | PTPRQ | c.1194G>T (p.Gly398=) c.1320G>T (p.Gly440=) c.1860G>T (p.Gly620=) n.1997G>T | gnomAD v4 |
12 | g.80484441G>A | CA240247807 | PTPRQ | c.1195G>A (p.Ala399Thr) c.1321G>A (p.Ala441Thr) c.1861G>A (p.Ala621Thr) n.1998G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.80484441G>C | CA385883482 | PTPRQ | c.1195G>C (p.Ala399Pro) c.1321G>C (p.Ala441Pro) c.1861G>C (p.Ala621Pro) n.1998G>C | |
12 | g.80484441G= | CA2049270691 | PTPRQ | c.1195G= (p.Ala399=) c.1321G= (p.Ala441=) c.1861G= (p.Ala621=) n.1998G= | |
12 | g.80484441G>T | CA385883479 | PTPRQ | c.1195G>T (p.Ala399Ser) c.1321G>T (p.Ala441Ser) c.1861G>T (p.Ala621Ser) n.1998G>T | gnomAD v4 |
12 | g.80484442del | CA2620023741 | PTPRQ | c.1196del (p.Ala399GlufsTer10) c.1322del (p.Ala441GlufsTer10) c.1862del (p.Ala621GlufsTer10) n.1999del | dbSNP gnomAD v4 |
12 | g.80484442C>A | CA385883485 | PTPRQ | c.1196C>A (p.Ala399Glu) c.1322C>A (p.Ala441Glu) c.1862C>A (p.Ala621Glu) n.1999C>A | gnomAD v4 |
12 | g.80484442C>G | CA385883488 | PTPRQ | c.1196C>G (p.Ala399Gly) c.1322C>G (p.Ala441Gly) c.1862C>G (p.Ala621Gly) n.1999C>G | |
12 | g.80484442C>T | CA385883491 | PTPRQ | c.1196C>T (p.Ala399Val) c.1322C>T (p.Ala441Val) c.1862C>T (p.Ala621Val) n.1999C>T | |
12 | g.80484443A>C | CA480815453 | PTPRQ | c.1197A>C (p.Ala399=) c.1323A>C (p.Ala441=) c.1863A>C (p.Ala621=) n.2000A>C | |
12 | g.80484443A>G | CA480815455 | PTPRQ | c.1197A>G (p.Ala399=) c.1323A>G (p.Ala441=) c.1863A>G (p.Ala621=) n.2000A>G | |
12 | g.80484443A>T | CA480815454 | PTPRQ | c.1197A>T (p.Ala399=) c.1323A>T (p.Ala441=) c.1863A>T (p.Ala621=) n.2000A>T | |
12 | g.80484444G>A | CA385883494 | PTPRQ | c.1198G>A (p.Val400Met) c.1324G>A (p.Val442Met) c.1864G>A (p.Val622Met) n.2001G>A | |
12 | g.80484444G>C | CA385883495 | PTPRQ | c.1198G>C (p.Val400Leu) c.1324G>C (p.Val442Leu) c.1864G>C (p.Val622Leu) n.2001G>C | |
12 | g.80484444G>T | CA385883498 | PTPRQ | c.1198G>T (p.Val400Leu) c.1324G>T (p.Val442Leu) c.1864G>T (p.Val622Leu) n.2001G>T | gnomAD v4 |
12 | g.80484445T>A | CA385883501 | PTPRQ | c.1199T>A (p.Val400Glu) c.1325T>A (p.Val442Glu) c.1865T>A (p.Val622Glu) n.2002T>A | gnomAD v4 |
12 | g.80484445T>C | CA240247812 | PTPRQ | c.1199T>C (p.Val400Ala) c.1325T>C (p.Val442Ala) c.1865T>C (p.Val622Ala) n.2002T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.80484445T>G | CA385883504 | PTPRQ | c.1199T>G (p.Val400Gly) c.1325T>G (p.Val442Gly) c.1865T>G (p.Val622Gly) n.2002T>G | |
12 | g.80484445T= | CA2049270692 | PTPRQ | c.1199T= (p.Val400=) c.1325T= (p.Val442=) c.1865T= (p.Val622=) n.2002T= | |
12 | g.80484446G>A | CA480815456 | PTPRQ | c.1200G>A (p.Val400=) c.1326G>A (p.Val442=) c.1866G>A (p.Val622=) n.2003G>A | |
12 | g.80484446G>C | CA480815457 | PTPRQ | c.1200G>C (p.Val400=) c.1326G>C (p.Val442=) c.1866G>C (p.Val622=) n.2003G>C | |
12 | g.80484446G>T | CA480815458 | PTPRQ | c.1200G>T (p.Val400=) c.1326G>T (p.Val442=) c.1866G>T (p.Val622=) n.2003G>T | |
12 | g.80484447T>A | CA385883508 | PTPRQ | c.1201T>A (p.Phe401Ile) c.1327T>A (p.Phe443Ile) c.1867T>A (p.Phe623Ile) n.2004T>A | |
12 | g.80484447T>C | CA385883510 | PTPRQ | c.1201T>C (p.Phe401Leu) c.1327T>C (p.Phe443Leu) c.1867T>C (p.Phe623Leu) n.2004T>C | |
12 | g.80484447T>G | CA385883513 | PTPRQ | c.1201T>G (p.Phe401Val) c.1327T>G (p.Phe443Val) c.1867T>G (p.Phe623Val) n.2004T>G | |
12 | g.80484449del | CA2620023742 | PTPRQ | c.1203del (p.Phe401LeufsTer8) c.1329del (p.Phe443LeufsTer8) c.1869del (p.Phe623LeufsTer8) n.2006del | gnomAD v4 |
12 | g.80484448T>A | CA385883522 | PTPRQ | c.1202T>A (p.Phe401Tyr) c.1328T>A (p.Phe443Tyr) c.1868T>A (p.Phe623Tyr) n.2005T>A | |
12 | g.80484448T>C | CA385883516 | PTPRQ | c.1202T>C (p.Phe401Ser) c.1328T>C (p.Phe443Ser) c.1868T>C (p.Phe623Ser) n.2005T>C | |
12 | g.80484448T>G | CA385883518 | PTPRQ | c.1202T>G (p.Phe401Cys) c.1328T>G (p.Phe443Cys) c.1868T>G (p.Phe623Cys) n.2005T>G | |
12 | g.80484449T>A | CA385883525 | PTPRQ | c.1203T>A (p.Phe401Leu) c.1329T>A (p.Phe443Leu) c.1869T>A (p.Phe623Leu) n.2006T>A | |
12 | g.80484449T>C | CA480815459 | PTPRQ | c.1203T>C (p.Phe401=) c.1329T>C (p.Phe443=) c.1869T>C (p.Phe623=) n.2006T>C | |
12 | g.80484449T>G | CA385883527 | PTPRQ | c.1203T>G (p.Phe401Leu) c.1329T>G (p.Phe443Leu) c.1869T>G (p.Phe623Leu) n.2006T>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484449T= | CA2049270693 | PTPRQ | c.1203T= (p.Phe401=) c.1329T= (p.Phe443=) c.1869T= (p.Phe623=) n.2006T= | |
12 | g.80484450G>A | CA385883531 | PTPRQ | c.1204G>A (p.Asp402Asn) c.1330G>A (p.Asp444Asn) c.1870G>A (p.Asp624Asn) n.2007G>A | |
12 | g.80484450G>C | CA385883533 | PTPRQ | c.1204G>C (p.Asp402His) c.1330G>C (p.Asp444His) c.1870G>C (p.Asp624His) n.2007G>C | |
12 | g.80484450G>T | CA385883537 | PTPRQ | c.1204G>T (p.Asp402Tyr) c.1330G>T (p.Asp444Tyr) c.1870G>T (p.Asp624Tyr) n.2007G>T | |
12 | g.80484450dup | CA2842579939 | PTPRQ | c.1204dup (p.Asp402GlyfsTer27) c.1330dup (p.Asp444GlyfsTer27) c.1870dup (p.Asp624GlyfsTer27) n.2007dup | |
12 | g.80484451A>C | CA385883540 | PTPRQ | c.1205A>C (p.Asp402Ala) c.1331A>C (p.Asp444Ala) c.1871A>C (p.Asp624Ala) n.2008A>C | |
12 | g.80484451A>G | CA385883542 | PTPRQ | c.1205A>G (p.Asp402Gly) c.1331A>G (p.Asp444Gly) c.1871A>G (p.Asp624Gly) n.2008A>G | |
12 | g.80484451A>T | CA385883545 | PTPRQ | c.1205A>T (p.Asp402Val) c.1331A>T (p.Asp444Val) c.1871A>T (p.Asp624Val) n.2008A>T | |
12 | g.80484452T>A | CA385883548 | PTPRQ | c.1206T>A (p.Asp402Glu) c.1332T>A (p.Asp444Glu) c.1872T>A (p.Asp624Glu) n.2009T>A | dbSNP |
12 | g.80484452T>C | CA480815460 | PTPRQ | c.1206T>C (p.Asp402=) c.1332T>C (p.Asp444=) c.1872T>C (p.Asp624=) n.2009T>C | |
12 | g.80484452T>G | CA385883549 | PTPRQ | c.1206T>G (p.Asp402Glu) c.1332T>G (p.Asp444Glu) c.1872T>G (p.Asp624Glu) n.2009T>G | |
12 | g.80484452T= | CA2049270694 | PTPRQ | c.1206T= (p.Asp402=) c.1332T= (p.Asp444=) c.1872T= (p.Asp624=) n.2009T= | |
12 | g.80484453T>A | CA385883553 | PTPRQ | c.1207T>A (p.Leu403Ile) c.1333T>A (p.Leu445Ile) c.1873T>A (p.Leu625Ile) n.2010T>A | |
12 | g.80484453T>C | CA480815461 | PTPRQ | c.1207T>C (p.Leu403=) c.1333T>C (p.Leu445=) c.1873T>C (p.Leu625=) n.2010T>C | |
12 | g.80484453T>G | CA385883555 | PTPRQ | c.1207T>G (p.Leu403Val) c.1333T>G (p.Leu445Val) c.1873T>G (p.Leu625Val) n.2010T>G | |
12 | g.80484454T>A | CA385883562 | PTPRQ | c.1208T>A (p.Leu403Ter) c.1334T>A (p.Leu445Ter) c.1874T>A (p.Leu625Ter) n.2011T>A | |
12 | g.80484454T>C | CA385883564 | PTPRQ | c.1208T>C (p.Leu403Ser) c.1334T>C (p.Leu445Ser) c.1874T>C (p.Leu625Ser) n.2011T>C | gnomAD v4 |
12 | g.80484454T>G | CA385883559 | PTPRQ | c.1208T>G (p.Leu403Ter) c.1334T>G (p.Leu445Ter) c.1874T>G (p.Leu625Ter) n.2011T>G | |
12 | g.80484455A= | CA2049270695 | PTPRQ | c.1209A= (p.Leu403=) c.1335A= (p.Leu445=) c.1875A= (p.Leu625=) n.2012A= | |
12 | g.80484455A>C | CA385883570 | PTPRQ | c.1209A>C (p.Leu403Phe) c.1335A>C (p.Leu445Phe) c.1875A>C (p.Leu625Phe) n.2012A>C | dbSNP |
12 | g.80484455A>G | CA480815462 | PTPRQ | c.1209A>G (p.Leu403=) c.1335A>G (p.Leu445=) c.1875A>G (p.Leu625=) n.2012A>G | |
12 | g.80484455A>T | CA385883569 | PTPRQ | c.1209A>T (p.Leu403Phe) c.1335A>T (p.Leu445Phe) c.1875A>T (p.Leu625Phe) n.2012A>T | |
12 | g.80484456C>A | CA385883573 | PTPRQ | c.1210C>A (p.Gln404Lys) c.1336C>A (p.Gln446Lys) c.1876C>A (p.Gln626Lys) n.2013C>A | |
12 | g.80484456C>G | CA385883577 | PTPRQ | c.1210C>G (p.Gln404Glu) c.1336C>G (p.Gln446Glu) c.1876C>G (p.Gln626Glu) n.2013C>G | |
12 | g.80484456C>T | CA385883579 | PTPRQ | c.1210C>T (p.Gln404Ter) c.1336C>T (p.Gln446Ter) c.1876C>T (p.Gln626Ter) n.2013C>T | |
12 | g.80484457A>C | CA385883583 | PTPRQ | c.1211A>C (p.Gln404Pro) c.1337A>C (p.Gln446Pro) c.1877A>C (p.Gln626Pro) n.2014A>C | |
12 | g.80484457A>G | CA385883586 | PTPRQ | c.1211A>G (p.Gln404Arg) c.1337A>G (p.Gln446Arg) c.1877A>G (p.Gln626Arg) n.2014A>G | |
12 | g.80484457A>T | CA385883588 | PTPRQ | c.1211A>T (p.Gln404Leu) c.1337A>T (p.Gln446Leu) c.1877A>T (p.Gln626Leu) n.2014A>T | |
12 | g.80484458A>C | CA385883595 | PTPRQ | c.1212A>C (p.Gln404His) c.1338A>C (p.Gln446His) c.1878A>C (p.Gln626His) n.2015A>C | |
12 | g.80484458A>G | CA480815463 | PTPRQ | c.1212A>G (p.Gln404=) c.1338A>G (p.Gln446=) c.1878A>G (p.Gln626=) n.2015A>G | |
12 | g.80484458A>T | CA385883592 | PTPRQ | c.1212A>T (p.Gln404His) c.1338A>T (p.Gln446His) c.1878A>T (p.Gln626His) n.2015A>T | |
12 | g.80484459C>A | CA385883598 | PTPRQ | c.1213C>A (p.Leu405Ile) c.1339C>A (p.Leu447Ile) c.1879C>A (p.Leu627Ile) n.2016C>A | |
12 | g.80484459C= | CA2049270696 | PTPRQ | c.1213C= (p.Leu405=) c.1339C= (p.Leu447=) c.1879C= (p.Leu627=) n.2016C= | |
12 | g.80484459C>G | CA385883601 | PTPRQ | c.1213C>G (p.Leu405Val) c.1339C>G (p.Leu447Val) c.1879C>G (p.Leu627Val) n.2016C>G | gnomAD v4 |
12 | g.80484459C>T | CA385883604 | PTPRQ | c.1213C>T (p.Leu405Phe) c.1339C>T (p.Leu447Phe) c.1879C>T (p.Leu627Phe) n.2016C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.80484460T>A | CA385883605 | PTPRQ | c.1214T>A (p.Leu405His) c.1340T>A (p.Leu447His) c.1880T>A (p.Leu627His) n.2017T>A | |
12 | g.80484460T>C | CA385883608 | PTPRQ | c.1214T>C (p.Leu405Pro) c.1340T>C (p.Leu447Pro) c.1880T>C (p.Leu627Pro) n.2017T>C | gnomAD v4 |
12 | g.80484460T>G | CA385883611 | PTPRQ | c.1214T>G (p.Leu405Arg) c.1340T>G (p.Leu447Arg) c.1880T>G (p.Leu627Arg) n.2017T>G | |
12 | g.80484461T>A | CA480815464 | PTPRQ | c.1215T>A (p.Leu405=) c.1341T>A (p.Leu447=) c.1881T>A (p.Leu627=) n.2018T>A | |
12 | g.80484461T>C | CA480815465 | PTPRQ | c.1215T>C (p.Leu405=) c.1341T>C (p.Leu447=) c.1881T>C (p.Leu627=) n.2018T>C | |
12 | g.80484461T>G | CA480815466 | PTPRQ | c.1215T>G (p.Leu405=) c.1341T>G (p.Leu447=) c.1881T>G (p.Leu627=) n.2018T>G | |
12 | g.80484462G>A | CA385883614 | PTPRQ | c.1216G>A (p.Ala406Thr) c.1342G>A (p.Ala448Thr) c.1882G>A (p.Ala628Thr) n.2019G>A | |
12 | g.80484462G>C | CA385883620 | PTPRQ | c.1216G>C (p.Ala406Pro) c.1342G>C (p.Ala448Pro) c.1882G>C (p.Ala628Pro) n.2019G>C | |
12 | g.80484462G>T | CA385883617 | PTPRQ | c.1216G>T (p.Ala406Ser) c.1342G>T (p.Ala448Ser) c.1882G>T (p.Ala628Ser) n.2019G>T | |
12 | g.80484463C>A | CA385883623 | PTPRQ | c.1217C>A (p.Ala406Glu) c.1343C>A (p.Ala448Glu) c.1883C>A (p.Ala628Glu) n.2020C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484463C= | CA2049270697 | PTPRQ | c.1217C= (p.Ala406=) c.1343C= (p.Ala448=) c.1883C= (p.Ala628=) n.2020C= | |
12 | g.80484463C>G | CA385883625 | PTPRQ | c.1217C>G (p.Ala406Gly) c.1343C>G (p.Ala448Gly) c.1883C>G (p.Ala628Gly) n.2020C>G | |
12 | g.80484463C>T | CA385883628 | PTPRQ | c.1217C>T (p.Ala406Val) c.1343C>T (p.Ala448Val) c.1883C>T (p.Ala628Val) n.2020C>T | |
12 | g.80484464A>C | CA480815467 | PTPRQ | c.1218A>C (p.Ala406=) c.1344A>C (p.Ala448=) c.1884A>C (p.Ala628=) n.2021A>C | gnomAD v4 |
12 | g.80484464A>G | CA480815468 | PTPRQ | c.1218A>G (p.Ala406=) c.1344A>G (p.Ala448=) c.1884A>G (p.Ala628=) n.2021A>G | |
12 | g.80484464A>T | CA480815469 | PTPRQ | c.1218A>T (p.Ala406=) c.1344A>T (p.Ala448=) c.1884A>T (p.Ala628=) n.2021A>T | |
12 | g.80484465G>A | CA385883631 | PTPRQ | c.1219G>A (p.Glu407Lys) c.1345G>A (p.Glu449Lys) c.1885G>A (p.Glu629Lys) n.2022G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484465G>C | CA385883634 | PTPRQ | c.1219G>C (p.Glu407Gln) c.1345G>C (p.Glu449Gln) c.1885G>C (p.Glu629Gln) n.2022G>C | |
12 | g.80484465G= | CA2049270698 | PTPRQ | c.1219G= (p.Glu407=) c.1345G= (p.Glu449=) c.1885G= (p.Glu629=) n.2022G= | |
12 | g.80484465G>T | CA385883638 | PTPRQ | c.1219G>T (p.Glu407Ter) c.1345G>T (p.Glu449Ter) c.1885G>T (p.Glu629Ter) n.2022G>T | |
12 | g.80484466A= | CA2049270699 | PTPRQ | c.1220A= (p.Glu407=) c.1346A= (p.Glu449=) c.1886A= (p.Glu629=) n.2023A= | |
12 | g.80484466A>C | CA385883642 | PTPRQ | c.1220A>C (p.Glu407Ala) c.1346A>C (p.Glu449Ala) c.1886A>C (p.Glu629Ala) n.2023A>C | |
12 | g.80484466A>G | CA385883646 | PTPRQ | c.1220A>G (p.Glu407Gly) c.1346A>G (p.Glu449Gly) c.1886A>G (p.Glu629Gly) n.2023A>G | dbSNP |
12 | g.80484466A>T | CA385883647 | PTPRQ | c.1220A>T (p.Glu407Val) c.1346A>T (p.Glu449Val) c.1886A>T (p.Glu629Val) n.2023A>T | |
12 | g.80484467G>A | CA240247813 | PTPRQ | c.1221G>A (p.Glu407=) c.1347G>A (p.Glu449=) c.1887G>A (p.Glu629=) n.2024G>A | dbSNP gnomAD v4 |
12 | g.80484467G>C | CA385883650 | PTPRQ | c.1221G>C (p.Glu407Asp) c.1347G>C (p.Glu449Asp) c.1887G>C (p.Glu629Asp) n.2024G>C | |
12 | g.80484467G= | CA2049270700 | PTPRQ | c.1221G= (p.Glu407=) c.1347G= (p.Glu449=) c.1887G= (p.Glu629=) n.2024G= | |
12 | g.80484467G>T | CA385883652 | PTPRQ | c.1221G>T (p.Glu407Asp) c.1347G>T (p.Glu449Asp) c.1887G>T (p.Glu629Asp) n.2024G>T | |
12 | g.80484468G>A | CA385883655 | PTPRQ | c.1222G>A (p.Val408Ile) c.1348G>A (p.Val450Ile) c.1888G>A (p.Val630Ile) n.2025G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484468G>C | CA385883659 | PTPRQ | c.1222G>C (p.Val408Leu) c.1348G>C (p.Val450Leu) c.1888G>C (p.Val630Leu) n.2025G>C | |
12 | g.80484468G= | CA2049270701 | PTPRQ | c.1222G= (p.Val408=) c.1348G= (p.Val450=) c.1888G= (p.Val630=) n.2025G= | |
12 | g.80484468G>T | CA385883656 | PTPRQ | c.1222G>T (p.Val408Leu) c.1348G>T (p.Val450Leu) c.1888G>T (p.Val630Leu) n.2025G>T | gnomAD v4 |
12 | g.80484469T>A | CA385883663 | PTPRQ | c.1223T>A (p.Val408Glu) c.1349T>A (p.Val450Glu) c.1889T>A (p.Val630Glu) n.2026T>A | |
12 | g.80484469T>C | CA385883665 | PTPRQ | c.1223T>C (p.Val408Ala) c.1349T>C (p.Val450Ala) c.1889T>C (p.Val630Ala) n.2026T>C | |
12 | g.80484469T>G | CA385883667 | PTPRQ | c.1223T>G (p.Val408Gly) c.1349T>G (p.Val450Gly) c.1889T>G (p.Val630Gly) n.2026T>G | |
12 | g.80484470A= | CA2049270702 | PTPRQ | c.1224A= (p.Val408=) c.1350A= (p.Val450=) c.1890A= (p.Val630=) n.2027A= | |
12 | g.80484470A>C | CA480815470 | PTPRQ | c.1224A>C (p.Val408=) c.1350A>C (p.Val450=) c.1890A>C (p.Val630=) n.2027A>C | |
12 | g.80484470A>G | CA480815471 | PTPRQ | c.1224A>G (p.Val408=) c.1350A>G (p.Val450=) c.1890A>G (p.Val630=) n.2027A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484470A>T | CA480815472 | PTPRQ | c.1224A>T (p.Val408=) c.1350A>T (p.Val450=) c.1890A>T (p.Val630=) n.2027A>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484471G>A | CA385883669 | PTPRQ | c.1225G>A (p.Glu409Lys) c.1351G>A (p.Glu451Lys) c.1891G>A (p.Glu631Lys) n.2028G>A | |
12 | g.80484471G>C | CA385883672 | PTPRQ | c.1225G>C (p.Glu409Gln) c.1351G>C (p.Glu451Gln) c.1891G>C (p.Glu631Gln) n.2028G>C | |
12 | g.80484471G>T | CA385883674 | PTPRQ | c.1225G>T (p.Glu409Ter) c.1351G>T (p.Glu451Ter) c.1891G>T (p.Glu631Ter) n.2028G>T | |
12 | g.80484472A= | CA2049270703 | PTPRQ | c.1226A= (p.Glu409=) c.1352A= (p.Glu451=) c.1892A= (p.Glu631=) n.2029A= | |
12 | g.80484472A>C | CA385883677 | PTPRQ | c.1226A>C (p.Glu409Ala) c.1352A>C (p.Glu451Ala) c.1892A>C (p.Glu631Ala) n.2029A>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.80484472A>G | CA385883680 | PTPRQ | c.1226A>G (p.Glu409Gly) c.1352A>G (p.Glu451Gly) c.1892A>G (p.Glu631Gly) n.2029A>G | gnomAD v4 |
12 | g.80484472A>T | CA385883682 | PTPRQ | c.1226A>T (p.Glu409Val) c.1352A>T (p.Glu451Val) c.1892A>T (p.Glu631Val) n.2029A>T | |
12 | g.80484473A>C | CA385883687 | PTPRQ | c.1227A>C (p.Glu409Asp) c.1353A>C (p.Glu451Asp) c.1893A>C (p.Glu631Asp) n.2030A>C | |
12 | g.80484473A>G | CA480815473 | PTPRQ | c.1227A>G (p.Glu409=) c.1353A>G (p.Glu451=) c.1893A>G (p.Glu631=) n.2030A>G | |
12 | g.80484473A>T | CA385883690 | PTPRQ | c.1227A>T (p.Glu409Asp) c.1353A>T (p.Glu451Asp) c.1893A>T (p.Glu631Asp) n.2030A>T | |
12 | g.80484474T>A | CA385883698 | PTPRQ | c.1228T>A (p.Ser410Thr) c.1354T>A (p.Ser452Thr) c.1894T>A (p.Ser632Thr) n.2031T>A | gnomAD v4 |
12 | g.80484474T>C | CA385883696 | PTPRQ | c.1228T>C (p.Ser410Pro) c.1354T>C (p.Ser452Pro) c.1894T>C (p.Ser632Pro) n.2031T>C | |
12 | g.80484474T>G | CA385883693 | PTPRQ | c.1228T>G (p.Ser410Ala) c.1354T>G (p.Ser452Ala) c.1894T>G (p.Ser632Ala) n.2031T>G | |
12 | g.80484475C>A | CA385883703 | PTPRQ | c.1229C>A (p.Ser410Tyr) c.1355C>A (p.Ser452Tyr) c.1895C>A (p.Ser632Tyr) n.2032C>A | |
12 | g.80484475C>G | CA385883709 | PTPRQ | c.1229C>G (p.Ser410Cys) c.1355C>G (p.Ser452Cys) c.1895C>G (p.Ser632Cys) n.2032C>G | |
12 | g.80484475C>T | CA385883712 | PTPRQ | c.1229C>T (p.Ser410Phe) c.1355C>T (p.Ser452Phe) c.1895C>T (p.Ser632Phe) n.2032C>T | |
12 | g.80484476C>A | CA480815474 | PTPRQ | c.1230C>A (p.Ser410=) c.1356C>A (p.Ser452=) c.1896C>A (p.Ser632=) n.2033C>A | gnomAD v4 |
12 | g.80484476C>G | CA480815475 | PTPRQ | c.1230C>G (p.Ser410=) c.1356C>G (p.Ser452=) c.1896C>G (p.Ser632=) n.2033C>G | |
12 | g.80484476C>T | CA480815476 | PTPRQ | c.1230C>T (p.Ser410=) c.1356C>T (p.Ser452=) c.1896C>T (p.Ser632=) n.2033C>T | |
12 | g.80484477A>C | CA385883716 | PTPRQ | c.1231A>C (p.Thr411Pro) c.1357A>C (p.Thr453Pro) c.1897A>C (p.Thr633Pro) n.2034A>C | |
12 | g.80484477A>G | CA385883718 | PTPRQ | c.1231A>G (p.Thr411Ala) c.1357A>G (p.Thr453Ala) c.1897A>G (p.Thr633Ala) n.2034A>G | |
12 | g.80484477A>T | CA385883721 | PTPRQ | c.1231A>T (p.Thr411Ser) c.1357A>T (p.Thr453Ser) c.1897A>T (p.Thr633Ser) n.2034A>T | |
12 | g.80484478C>A | CA385883724 | PTPRQ | c.1232C>A (p.Thr411Lys) c.1358C>A (p.Thr453Lys) c.1898C>A (p.Thr633Lys) n.2035C>A | |
12 | g.80484478C= | CA2049270704 | PTPRQ | c.1232C= (p.Thr411=) c.1358C= (p.Thr453=) c.1898C= (p.Thr633=) n.2035C= | |
12 | g.80484478C>G | CA385883725 | PTPRQ | c.1232C>G (p.Thr411Arg) c.1358C>G (p.Thr453Arg) c.1898C>G (p.Thr633Arg) n.2035C>G | dbSNP |
12 | g.80484478C>T | CA6702403 | PTPRQ | c.1232C>T (p.Thr411Met) c.1358C>T (p.Thr453Met) c.1898C>T (p.Thr633Met) n.2035C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484479G>A | CA6702404 | PTPRQ | c.1233G>A (p.Thr411=) c.1359G>A (p.Thr453=) c.1899G>A (p.Thr633=) n.2036G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484479G>C | CA480815478 | PTPRQ | c.1233G>C (p.Thr411=) c.1359G>C (p.Thr453=) c.1899G>C (p.Thr633=) n.2036G>C | |
12 | g.80484479G= | CA1630855739 | PTPRQ | c.1233G= (p.Thr411=) c.1359G= (p.Thr453=) c.1899G= (p.Thr633=) n.2036G= | |
12 | g.80484479G>T | CA480815477 | PTPRQ | c.1233G>T (p.Thr411=) c.1359G>T (p.Thr453=) c.1899G>T (p.Thr633=) n.2036G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484480C>A | CA385883733 | PTPRQ | c.1234C>A (p.Gln412Lys) c.1360C>A (p.Gln454Lys) c.1900C>A (p.Gln634Lys) n.2037C>A | |
12 | g.80484480C>G | CA385883735 | PTPRQ | c.1234C>G (p.Gln412Glu) c.1360C>G (p.Gln454Glu) c.1900C>G (p.Gln634Glu) n.2037C>G | gnomAD v4 |
12 | g.80484480C>T | CA385883736 | PTPRQ | c.1234C>T (p.Gln412Ter) c.1360C>T (p.Gln454Ter) c.1900C>T (p.Gln634Ter) n.2037C>T | |
12 | g.80484481A= | CA2049270705 | PTPRQ | c.1235A= (p.Gln412=) c.1361A= (p.Gln454=) c.1901A= (p.Gln634=) n.2038A= | |
12 | g.80484481A>C | CA385883741 | PTPRQ | c.1235A>C (p.Gln412Pro) c.1361A>C (p.Gln454Pro) c.1901A>C (p.Gln634Pro) n.2038A>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484481A>G | CA385883742 | PTPRQ | c.1235A>G (p.Gln412Arg) c.1361A>G (p.Gln454Arg) c.1901A>G (p.Gln634Arg) n.2038A>G | dbSNP |
12 | g.80484481A>T | CA385883739 | PTPRQ | c.1235A>T (p.Gln412Leu) c.1361A>T (p.Gln454Leu) c.1901A>T (p.Gln634Leu) n.2038A>T | |
12 | g.80484484_80484487del | CA2620023743 | PTPRQ | c.1238_1241del (p.Val413GlufsTer19) c.1364_1367del (p.Val455GlufsTer19) c.1904_1907del (p.Val635GlufsTer19) n.2041_2044del | gnomAD v4 |
12 | g.80484482A= | CA2049270706 | PTPRQ | c.1236A= (p.Gln412=) c.1362A= (p.Gln454=) c.1902A= (p.Gln634=) n.2039A= | |
12 | g.80484482A>C | CA385883745 | PTPRQ | c.1236A>C (p.Gln412His) c.1362A>C (p.Gln454His) c.1902A>C (p.Gln634His) n.2039A>C | |
12 | g.80484482A>G | CA480815479 | PTPRQ | c.1236A>G (p.Gln412=) c.1362A>G (p.Gln454=) c.1902A>G (p.Gln634=) n.2039A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.80484482A>T | CA385883747 | PTPRQ | c.1236A>T (p.Gln412His) c.1362A>T (p.Gln454His) c.1902A>T (p.Gln634His) n.2039A>T | |
12 | g.80484483G>A | CA385883749 | PTPRQ | c.1237G>A (p.Val413Ile) c.1363G>A (p.Val455Ile) c.1903G>A (p.Val635Ile) n.2040G>A | |
12 | g.80484483G>C | CA385883751 | PTPRQ | c.1237G>C (p.Val413Leu) c.1363G>C (p.Val455Leu) c.1903G>C (p.Val635Leu) n.2040G>C | gnomAD v4 |
12 | g.80484483G>T | CA385883753 | PTPRQ | c.1237G>T (p.Val413Leu) c.1363G>T (p.Val455Leu) c.1903G>T (p.Val635Leu) n.2040G>T | |
12 | g.80484484T>A | CA385883759 | PTPRQ | c.1238T>A (p.Val413Glu) c.1364T>A (p.Val455Glu) c.1904T>A (p.Val635Glu) n.2041T>A | |
12 | g.80484484T>C | CA385883757 | PTPRQ | c.1238T>C (p.Val413Ala) c.1364T>C (p.Val455Ala) c.1904T>C (p.Val635Ala) n.2041T>C | |
12 | g.80484484T>G | CA385883756 | PTPRQ | c.1238T>G (p.Val413Gly) c.1364T>G (p.Val455Gly) c.1904T>G (p.Val635Gly) n.2041T>G | gnomAD v4 |
12 | g.80484485A>C | CA480815480 | PTPRQ | c.1239A>C (p.Val413=) c.1365A>C (p.Val455=) c.1905A>C (p.Val635=) n.2042A>C | |
12 | g.80484485A>G | CA480815483 | PTPRQ | c.1239A>G (p.Val413=) c.1365A>G (p.Val455=) c.1905A>G (p.Val635=) n.2042A>G | |
12 | g.80484485A>T | CA480815481 | PTPRQ | c.1239A>T (p.Val413=) c.1365A>T (p.Val455=) c.1905A>T (p.Val635=) n.2042A>T | |
12 | g.80484486A>C | CA480815484 | PTPRQ | c.1240A>C (p.Arg414=) c.1366A>C (p.Arg456=) c.1906A>C (p.Arg636=) n.2043A>C | |
12 | g.80484486A>G | CA385883761 | PTPRQ | c.1240A>G (p.Arg414Gly) c.1366A>G (p.Arg456Gly) c.1906A>G (p.Arg636Gly) n.2043A>G | |
12 | g.80484486A>T | CA385883763 | PTPRQ | c.1240A>T (p.Arg414Ter) c.1366A>T (p.Arg456Ter) c.1906A>T (p.Arg636Ter) n.2043A>T | |
12 | g.80484487G>A | CA385883764 | PTPRQ | c.1241G>A (p.Arg414Lys) c.1367G>A (p.Arg456Lys) c.1907G>A (p.Arg636Lys) n.2044G>A | gnomAD v4 |
12 | g.80484487G>C | CA385883765 | PTPRQ | c.1241G>C (p.Arg414Thr) c.1367G>C (p.Arg456Thr) c.1907G>C (p.Arg636Thr) n.2044G>C | gnomAD v4 |
12 | g.80484487G>T | CA385883767 | PTPRQ | c.1241G>T (p.Arg414Ile) c.1367G>T (p.Arg456Ile) c.1907G>T (p.Arg636Ile) n.2044G>T | |
12 | g.80484488A>C | CA385883770 | PTPRQ | c.1242A>C (p.Arg414Ser) c.1368A>C (p.Arg456Ser) c.1908A>C (p.Arg636Ser) n.2045A>C | |
12 | g.80484488A>G | CA480815485 | PTPRQ | c.1242A>G (p.Arg414=) c.1368A>G (p.Arg456=) c.1908A>G (p.Arg636=) n.2045A>G | |
12 | g.80484488A>T | CA385883771 | PTPRQ | c.1242A>T (p.Arg414Ser) c.1368A>T (p.Arg456Ser) c.1908A>T (p.Arg636Ser) n.2045A>T | |
12 | g.80484489A= | CA2049270707 | PTPRQ | c.1243A= (p.Ile415=) c.1369A= (p.Ile457=) c.1909A= (p.Ile637=) n.2046A= | |
12 | g.80484489A>C | CA385883774 | PTPRQ | c.1243A>C (p.Ile415Leu) c.1369A>C (p.Ile457Leu) c.1909A>C (p.Ile637Leu) n.2046A>C | |
12 | g.80484489A>G | CA6702405 | PTPRQ | c.1243A>G (p.Ile415Val) c.1369A>G (p.Ile457Val) c.1909A>G (p.Ile637Val) n.2046A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484489A>T | CA385883776 | PTPRQ | c.1243A>T (p.Ile415Phe) c.1369A>T (p.Ile457Phe) c.1909A>T (p.Ile637Phe) n.2046A>T | |
12 | g.80484490T>A | CA240247822 | PTPRQ | c.1244T>A (p.Ile415Asn) c.1370T>A (p.Ile457Asn) c.1910T>A (p.Ile637Asn) n.2047T>A | dbSNP gnomAD v4 |
12 | g.80484490T>C | CA385883779 | PTPRQ | c.1244T>C (p.Ile415Thr) c.1370T>C (p.Ile457Thr) c.1910T>C (p.Ile637Thr) n.2047T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484490T>G | CA385883781 | PTPRQ | c.1244T>G (p.Ile415Ser) c.1370T>G (p.Ile457Ser) c.1910T>G (p.Ile637Ser) n.2047T>G | |
12 | g.80484490T= | CA2049270708 | PTPRQ | c.1244T= (p.Ile415=) c.1370T= (p.Ile457=) c.1910T= (p.Ile637=) n.2047T= | |
12 | g.80484490_80484491del | CA2741271118 | PTPRQ | c.1244_1245del (p.Ile415AsnfsTer13) c.1370_1371del (p.Ile457AsnfsTer13) c.1910_1911del (p.Ile637AsnfsTer13) n.2047_2048del | |
12 | g.80484491T>A | CA480815486 | PTPRQ | c.1245T>A (p.Ile415=) c.1371T>A (p.Ile457=) c.1911T>A (p.Ile637=) n.2048T>A | |
12 | g.80484491T>C | CA480815487 | PTPRQ | c.1245T>C (p.Ile415=) c.1371T>C (p.Ile457=) c.1911T>C (p.Ile637=) n.2048T>C | |
12 | g.80484491T>G | CA385883783 | PTPRQ | c.1245T>G (p.Ile415Met) c.1371T>G (p.Ile457Met) c.1911T>G (p.Ile637Met) n.2048T>G | |
12 | g.80484491T= | CA2049270709 | PTPRQ | c.1245T= (p.Ile415=) c.1371T= (p.Ile457=) c.1911T= (p.Ile637=) n.2048T= | |
12 | g.80484492A>C | CA385883786 | PTPRQ | c.1246A>C (p.Thr416Pro) c.1372A>C (p.Thr458Pro) c.1912A>C (p.Thr638Pro) n.2049A>C | |
12 | g.80484492A>G | CA385883788 | PTPRQ | c.1246A>G (p.Thr416Ala) c.1372A>G (p.Thr458Ala) c.1912A>G (p.Thr638Ala) n.2049A>G | gnomAD v4 |
12 | g.80484492A>T | CA385883789 | PTPRQ | c.1246A>T (p.Thr416Ser) c.1372A>T (p.Thr458Ser) c.1912A>T (p.Thr638Ser) n.2049A>T | |
12 | g.80484492_80484493insGCA | CA2741271119 | PTPRQ | c.1246_1247insGCA (p.Ile415_Thr416insSer) c.1372_1373insGCA (p.Ile457_Thr458insSer) c.1912_1913insGCA (p.Ile637_Thr638insSer) n.2049_2050insGCA | |
12 | g.80484492dup | CA6702406 | PTPRQ | c.1246dup (p.Thr416AsnfsTer13) c.1372dup (p.Thr458AsnfsTer13) c.1912dup (p.Thr638AsnfsTer13) n.2049dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484494_80484504del | CA2575236169 | PTPRQ | c.1248_1258del (p.Trp417ThrfsTer8) c.1374_1384del (p.Trp459ThrfsTer8) c.1914_1924del (p.Trp639ThrfsTer8) n.2051_2061del | |
12 | g.80484493C>A | CA6702407 | PTPRQ | c.1247C>A (p.Thr416Asn) c.1373C>A (p.Thr458Asn) c.1913C>A (p.Thr638Asn) n.2050C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.80484493C= | CA2049270710 | PTPRQ | c.1247C= (p.Thr416=) c.1373C= (p.Thr458=) c.1913C= (p.Thr638=) n.2050C= | |
12 | g.80484493C>G | CA385883792 | PTPRQ | c.1247C>G (p.Thr416Ser) c.1373C>G (p.Thr458Ser) c.1913C>G (p.Thr638Ser) n.2050C>G | ClinVar dbSNP gnomAD v4 |
12 | g.80484493C>T | CA385883794 | PTPRQ | c.1247C>T (p.Thr416Ile) c.1373C>T (p.Thr458Ile) c.1913C>T (p.Thr638Ile) n.2050C>T | |
12 | g.80484494T>A | CA480815488 | PTPRQ | c.1248T>A (p.Thr416=) c.1374T>A (p.Thr458=) c.1914T>A (p.Thr638=) n.2051T>A | dbSNP gnomAD v4 |
12 | g.80484494T>C | CA6702408 | PTPRQ | c.1248T>C (p.Thr416=) c.1374T>C (p.Thr458=) c.1914T>C (p.Thr638=) n.2051T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.80484494T>G | CA480815489 | PTPRQ | c.1248T>G (p.Thr416=) c.1374T>G (p.Thr458=) c.1914T>G (p.Thr638=) n.2051T>G | |
12 | g.80484494T= | CA2049270711 | PTPRQ | c.1248T= (p.Thr416=) c.1374T= (p.Thr458=) c.1914T= (p.Thr638=) n.2051T= | |
12 | g.80484495T>A | CA385883796 | PTPRQ | c.1249T>A (p.Trp417Arg) c.1375T>A (p.Trp459Arg) c.1915T>A (p.Trp639Arg) n.2052T>A | |
12 | g.80484495T>C | CA385883800 | PTPRQ | c.1249T>C (p.Trp417Arg) c.1375T>C (p.Trp459Arg) c.1915T>C (p.Trp639Arg) n.2052T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484495T>G | CA385883798 | PTPRQ | c.1249T>G (p.Trp417Gly) c.1375T>G (p.Trp459Gly) c.1915T>G (p.Trp639Gly) n.2052T>G | |
12 | g.80484495T= | CA2049270712 | PTPRQ | c.1249T= (p.Trp417=) c.1375T= (p.Trp459=) c.1915T= (p.Trp639=) n.2052T= | |
12 | g.80484496G>A | CA385883803 | PTPRQ | c.1250G>A (p.Trp417Ter) c.1376G>A (p.Trp459Ter) c.1916G>A (p.Trp639Ter) n.2053G>A | |
12 | g.80484496G>C | CA385883805 | PTPRQ | c.1250G>C (p.Trp417Ser) c.1376G>C (p.Trp459Ser) c.1916G>C (p.Trp639Ser) n.2053G>C | |
12 | g.80484496G>T | CA385883807 | PTPRQ | c.1250G>T (p.Trp417Leu) c.1376G>T (p.Trp459Leu) c.1916G>T (p.Trp639Leu) n.2053G>T | |
12 | g.80484497G>A | CA385883808 | PTPRQ | c.1251G>A (p.Trp417Ter) c.1377G>A (p.Trp459Ter) c.1917G>A (p.Trp639Ter) n.2054G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484497G>C | CA385883809 | PTPRQ | c.1251G>C (p.Trp417Cys) c.1377G>C (p.Trp459Cys) c.1917G>C (p.Trp639Cys) n.2054G>C | |
12 | g.80484497G= | CA2049270713 | PTPRQ | c.1251G= (p.Trp417=) c.1377G= (p.Trp459=) c.1917G= (p.Trp639=) n.2054G= | |
12 | g.80484497G>T | CA385883811 | PTPRQ | c.1251G>T (p.Trp417Cys) c.1377G>T (p.Trp459Cys) c.1917G>T (p.Trp639Cys) n.2054G>T | |
12 | g.80484498A>C | CA385883813 | PTPRQ | c.1252A>C (p.Lys418Gln) c.1378A>C (p.Lys460Gln) c.1918A>C (p.Lys640Gln) n.2055A>C | gnomAD v4 |
12 | g.80484498A>G | CA385883815 | PTPRQ | c.1252A>G (p.Lys418Glu) c.1378A>G (p.Lys460Glu) c.1918A>G (p.Lys640Glu) n.2055A>G | |
12 | g.80484498A>T | CA385883817 | PTPRQ | c.1252A>T (p.Lys418Ter) c.1378A>T (p.Lys460Ter) c.1918A>T (p.Lys640Ter) n.2055A>T | gnomAD v4 |
12 | g.80484499A= | CA2049270714 | PTPRQ | c.1253A= (p.Lys418=) c.1379A= (p.Lys460=) c.1919A= (p.Lys640=) n.2056A= | |
12 | g.80484499A>C | CA385883819 | PTPRQ | c.1253A>C (p.Lys418Thr) c.1379A>C (p.Lys460Thr) c.1919A>C (p.Lys640Thr) n.2056A>C | dbSNP |
12 | g.80484499A>G | CA385883821 | PTPRQ | c.1253A>G (p.Lys418Arg) c.1379A>G (p.Lys460Arg) c.1919A>G (p.Lys640Arg) n.2056A>G | |
12 | g.80484499A>T | CA385883823 | PTPRQ | c.1253A>T (p.Lys418Met) c.1379A>T (p.Lys460Met) c.1919A>T (p.Lys640Met) n.2056A>T | |
12 | g.80484500G>A | CA6702409 | PTPRQ | c.1254G>A (p.Lys418=) c.1380G>A (p.Lys460=) c.1920G>A (p.Lys640=) n.2057G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.80484500G>C | CA385883829 | PTPRQ | c.1254G>C (p.Lys418Asn) c.1380G>C (p.Lys460Asn) c.1920G>C (p.Lys640Asn) n.2057G>C | |
12 | g.80484500G= | CA2049270715 | PTPRQ | c.1254G= (p.Lys418=) c.1380G= (p.Lys460=) c.1920G= (p.Lys640=) n.2057G= | |
12 | g.80484500G>T | CA385883826 | PTPRQ | c.1254G>T (p.Lys418Asn) c.1380G>T (p.Lys460Asn) c.1920G>T (p.Lys640Asn) n.2057G>T | |
12 | g.80484501A>C | CA385883831 | PTPRQ | c.1255A>C (p.Lys419Gln) c.1381A>C (p.Lys461Gln) c.1921A>C (p.Lys641Gln) n.2058A>C | |
12 | g.80484501A>G | CA385883833 | PTPRQ | c.1255A>G (p.Lys419Glu) c.1381A>G (p.Lys461Glu) c.1921A>G (p.Lys641Glu) n.2058A>G | |
12 | g.80484501A>T | CA385883834 | PTPRQ | c.1255A>T (p.Lys419Ter) c.1381A>T (p.Lys461Ter) c.1921A>T (p.Lys641Ter) n.2058A>T | |
12 | g.80484502A>C | CA385883836 | PTPRQ | c.1256A>C (p.Lys419Thr) c.1382A>C (p.Lys461Thr) c.1922A>C (p.Lys641Thr) n.2059A>C | |
12 | g.80484502A>G | CA385883838 | PTPRQ | c.1256A>G (p.Lys419Arg) c.1382A>G (p.Lys461Arg) c.1922A>G (p.Lys641Arg) n.2059A>G | |
12 | g.80484502A>T | CA385883839 | PTPRQ | c.1256A>T (p.Lys419Ile) c.1382A>T (p.Lys461Ile) c.1922A>T (p.Lys641Ile) n.2059A>T | |
12 | g.80484503A>C | CA385883842 | PTPRQ | c.1257A>C (p.Lys419Asn) c.1383A>C (p.Lys461Asn) c.1923A>C (p.Lys641Asn) n.2060A>C | |
12 | g.80484503A>G | CA480815490 | PTPRQ | c.1257A>G (p.Lys419=) c.1383A>G (p.Lys461=) c.1923A>G (p.Lys641=) n.2060A>G | |
12 | g.80484503A>T | CA385883843 | PTPRQ | c.1257A>T (p.Lys419Asn) c.1383A>T (p.Lys461Asn) c.1923A>T (p.Lys641Asn) n.2060A>T | |
12 | g.80484505_80484507del | CA2796696579 | PTPRQ | c.1259_1261del (p.Pro420del) c.1385_1387del (p.Pro462del) c.1925_1927del (p.Pro642del) n.2062_2064del | |
12 | g.80484504C>A | CA385883845 | PTPRQ | c.1258C>A (p.Pro420Thr) c.1384C>A (p.Pro462Thr) c.1924C>A (p.Pro642Thr) n.2061C>A | |
12 | g.80484504C>G | CA385883847 | PTPRQ | c.1258C>G (p.Pro420Ala) c.1384C>G (p.Pro462Ala) c.1924C>G (p.Pro642Ala) n.2061C>G | |
12 | g.80484504C>T | CA385883849 | PTPRQ | c.1258C>T (p.Pro420Ser) c.1384C>T (p.Pro462Ser) c.1924C>T (p.Pro642Ser) n.2061C>T | |
12 | g.80484505C>A | CA385883851 | PTPRQ | c.1259C>A (p.Pro420Gln) c.1385C>A (p.Pro462Gln) c.1925C>A (p.Pro642Gln) n.2062C>A | |
12 | g.80484505C>G | CA385883854 | PTPRQ | c.1259C>G (p.Pro420Arg) c.1385C>G (p.Pro462Arg) c.1925C>G (p.Pro642Arg) n.2062C>G | gnomAD v4 |
12 | g.80484505C>T | CA385883855 | PTPRQ | c.1259C>T (p.Pro420Leu) c.1385C>T (p.Pro462Leu) c.1925C>T (p.Pro642Leu) n.2062C>T | |
12 | g.80484506A>C | CA480815491 | PTPRQ | c.1260A>C (p.Pro420=) c.1386A>C (p.Pro462=) c.1926A>C (p.Pro642=) n.2063A>C | |
12 | g.80484506A>G | CA480815492 | PTPRQ | c.1260A>G (p.Pro420=) c.1386A>G (p.Pro462=) c.1926A>G (p.Pro642=) n.2063A>G | |
12 | g.80484506A>T | CA480815493 | PTPRQ | c.1260A>T (p.Pro420=) c.1386A>T (p.Pro462=) c.1926A>T (p.Pro642=) n.2063A>T | |
12 | g.80484507C>A | CA480815494 | PTPRQ | c.1261C>A (p.Arg421=) c.1387C>A (p.Arg463=) c.1927C>A (p.Arg643=) n.2064C>A | |
12 | g.80484507C= | CA2049270716 | PTPRQ | c.1261C= (p.Arg421=) c.1387C= (p.Arg463=) c.1927C= (p.Arg643=) n.2064C= | |
12 | g.80484507C>G | CA385883860 | PTPRQ | c.1261C>G (p.Arg421Gly) c.1387C>G (p.Arg463Gly) c.1927C>G (p.Arg643Gly) n.2064C>G | dbSNP gnomAD v4 |
12 | g.80484507C>T | CA385883858 | PTPRQ | c.1261C>T (p.Arg421Ter) c.1387C>T (p.Arg463Ter) c.1927C>T (p.Arg643Ter) n.2064C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484508G>A | CA385883862 | PTPRQ | c.1262G>A (p.Arg421Gln) c.1388G>A (p.Arg463Gln) c.1928G>A (p.Arg643Gln) n.2065G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484508G>C | CA385883866 | PTPRQ | c.1262G>C (p.Arg421Pro) c.1388G>C (p.Arg463Pro) c.1928G>C (p.Arg643Pro) n.2065G>C | |
12 | g.80484508G= | CA2049270717 | PTPRQ | c.1262G= (p.Arg421=) c.1388G= (p.Arg463=) c.1928G= (p.Arg643=) n.2065G= | |
12 | g.80484508G>T | CA385883864 | PTPRQ | c.1262G>T (p.Arg421Leu) c.1388G>T (p.Arg463Leu) c.1928G>T (p.Arg643Leu) n.2065G>T | |
12 | g.80484509A>C | CA480815495 | PTPRQ | c.1263A>C (p.Arg421=) c.1389A>C (p.Arg463=) c.1929A>C (p.Arg643=) n.2066A>C | |
12 | g.80484509A>G | CA480815496 | PTPRQ | c.1263A>G (p.Arg421=) c.1389A>G (p.Arg463=) c.1929A>G (p.Arg643=) n.2066A>G | |
12 | g.80484509A>T | CA480815497 | PTPRQ | c.1263A>T (p.Arg421=) c.1389A>T (p.Arg463=) c.1929A>T (p.Arg643=) n.2066A>T | |
12 | g.80484510C>A | CA385883868 | PTPRQ | c.1264C>A (p.Gln422Lys) c.1390C>A (p.Gln464Lys) c.1930C>A (p.Gln644Lys) n.2067C>A | gnomAD v4 |
12 | g.80484510C= | CA2049270718 | PTPRQ | c.1264C= (p.Gln422=) c.1390C= (p.Gln464=) c.1930C= (p.Gln644=) n.2067C= | |
12 | g.80484510C>G | CA385883871 | PTPRQ | c.1264C>G (p.Gln422Glu) c.1390C>G (p.Gln464Glu) c.1930C>G (p.Gln644Glu) n.2067C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.80484510C>T | CA240247847 | PTPRQ | c.1264C>T (p.Gln422Ter) c.1390C>T (p.Gln464Ter) c.1930C>T (p.Gln644Ter) n.2067C>T | dbSNP |
12 | g.80484511A= | CA2049270719 | PTPRQ | c.1265A= (p.Gln422=) c.1391A= (p.Gln464=) c.1931A= (p.Gln644=) n.2068A= | |
12 | g.80484511A>C | CA385883873 | PTPRQ | c.1265A>C (p.Gln422Pro) c.1391A>C (p.Gln464Pro) c.1931A>C (p.Gln644Pro) n.2068A>C | |
12 | g.80484511A>G | CA6702410 | PTPRQ | c.1265A>G (p.Gln422Arg) c.1391A>G (p.Gln464Arg) c.1931A>G (p.Gln644Arg) n.2068A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484511A>T | CA385883875 | PTPRQ | c.1265A>T (p.Gln422Leu) c.1391A>T (p.Gln464Leu) c.1931A>T (p.Gln644Leu) n.2068A>T | |
12 | g.80484512A>C | CA385883878 | PTPRQ | c.1266A>C (p.Gln422His) c.1392A>C (p.Gln464His) c.1932A>C (p.Gln644His) n.2069A>C | |
12 | g.80484512A>G | CA480815498 | PTPRQ | c.1266A>G (p.Gln422=) c.1392A>G (p.Gln464=) c.1932A>G (p.Gln644=) n.2069A>G | |
12 | g.80484512A>T | CA385883880 | PTPRQ | c.1266A>T (p.Gln422His) c.1392A>T (p.Gln464His) c.1932A>T (p.Gln644His) n.2069A>T | |
12 | g.80484513C>A | CA385883882 | PTPRQ | c.1267C>A (p.Pro423Thr) c.1393C>A (p.Pro465Thr) c.1933C>A (p.Pro645Thr) n.2070C>A | gnomAD v4 |
12 | g.80484513C>G | CA385883884 | PTPRQ | c.1267C>G (p.Pro423Ala) c.1393C>G (p.Pro465Ala) c.1933C>G (p.Pro645Ala) n.2070C>G | gnomAD v4 |
12 | g.80484513C>T | CA385883886 | PTPRQ | c.1267C>T (p.Pro423Ser) c.1393C>T (p.Pro465Ser) c.1933C>T (p.Pro645Ser) n.2070C>T | |
12 | g.80484514C>A | CA385883889 | PTPRQ | c.1268C>A (p.Pro423Gln) c.1394C>A (p.Pro465Gln) c.1934C>A (p.Pro645Gln) n.2071C>A | |
12 | g.80484514C= | CA2049270720 | PTPRQ | c.1268C= (p.Pro423=) c.1394C= (p.Pro465=) c.1934C= (p.Pro645=) n.2071C= | |
12 | g.80484514C>G | CA385883890 | PTPRQ | c.1268C>G (p.Pro423Arg) c.1394C>G (p.Pro465Arg) c.1934C>G (p.Pro645Arg) n.2071C>G | gnomAD v4 |
12 | g.80484514C>T | CA385883892 | PTPRQ | c.1268C>T (p.Pro423Leu) c.1394C>T (p.Pro465Leu) c.1934C>T (p.Pro645Leu) n.2071C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.80484515A>C | CA480815499 | PTPRQ | c.1269A>C (p.Pro423=) c.1395A>C (p.Pro465=) c.1935A>C (p.Pro645=) n.2072A>C | |
12 | g.80484515A>G | CA480815500 | PTPRQ | c.1269A>G (p.Pro423=) c.1395A>G (p.Pro465=) c.1935A>G (p.Pro645=) n.2072A>G | |
12 | g.80484515A>T | CA480815501 | PTPRQ | c.1269A>T (p.Pro423=) c.1395A>T (p.Pro465=) c.1935A>T (p.Pro645=) n.2072A>T | |
12 | g.80484516A>C | CA385883898 | PTPRQ | c.1270A>C (p.Asn424His) c.1396A>C (p.Asn466His) c.1936A>C (p.Asn646His) n.2073A>C | |
12 | g.80484516A>G | CA385883896 | PTPRQ | c.1270A>G (p.Asn424Asp) c.1396A>G (p.Asn466Asp) c.1936A>G (p.Asn646Asp) n.2073A>G | gnomAD v4 |
12 | g.80484516A>T | CA385883894 | PTPRQ | c.1270A>T (p.Asn424Tyr) c.1396A>T (p.Asn466Tyr) c.1936A>T (p.Asn646Tyr) n.2073A>T | |
12 | g.80484517A>C | CA385883900 | PTPRQ | c.1271A>C (p.Asn424Thr) c.1397A>C (p.Asn466Thr) c.1937A>C (p.Asn646Thr) n.2074A>C | |
12 | g.80484517A>G | CA385883902 | PTPRQ | c.1271A>G (p.Asn424Ser) c.1397A>G (p.Asn466Ser) c.1937A>G (p.Asn646Ser) n.2074A>G | |
12 | g.80484517A>T | CA385883904 | PTPRQ | c.1271A>T (p.Asn424Ile) c.1397A>T (p.Asn466Ile) c.1937A>T (p.Asn646Ile) n.2074A>T | |
12 | g.80484518T>A | CA385883906 | PTPRQ | c.1272T>A (p.Asn424Lys) c.1398T>A (p.Asn466Lys) c.1938T>A (p.Asn646Lys) n.2075T>A | |
12 | g.80484518T>C | CA480815502 | PTPRQ | c.1272T>C (p.Asn424=) c.1398T>C (p.Asn466=) c.1938T>C (p.Asn646=) n.2075T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484518T>G | CA385883908 | PTPRQ | c.1272T>G (p.Asn424Lys) c.1398T>G (p.Asn466Lys) c.1938T>G (p.Asn646Lys) n.2075T>G | |
12 | g.80484518T= | CA2049270721 | PTPRQ | c.1272T= (p.Asn424=) c.1398T= (p.Asn466=) c.1938T= (p.Asn646=) n.2075T= | |
12 | g.80484519G>A | CA385883910 | PTPRQ | c.1273G>A (p.Gly425Arg) c.1399G>A (p.Gly467Arg) c.1939G>A (p.Gly647Arg) n.2076G>A | |
12 | g.80484519G>C | CA385883911 | PTPRQ | c.1273G>C (p.Gly425Arg) c.1399G>C (p.Gly467Arg) c.1939G>C (p.Gly647Arg) n.2076G>C | |
12 | g.80484519G>T | CA385883913 | PTPRQ | c.1273G>T (p.Gly425Ter) c.1399G>T (p.Gly467Ter) c.1939G>T (p.Gly647Ter) n.2076G>T | |
12 | g.80484520G>A | CA240247853 | PTPRQ | c.1274G>A (p.Gly425Glu) c.1400G>A (p.Gly467Glu) c.1940G>A (p.Gly647Glu) n.2077G>A | dbSNP |
12 | g.80484520G>C | CA385883917 | PTPRQ | c.1274G>C (p.Gly425Ala) c.1400G>C (p.Gly467Ala) c.1940G>C (p.Gly647Ala) n.2077G>C | |
12 | g.80484520G= | CA2049270722 | PTPRQ | c.1274G= (p.Gly425=) c.1400G= (p.Gly467=) c.1940G= (p.Gly647=) n.2077G= | |
12 | g.80484520G>T | CA385883919 | PTPRQ | c.1274G>T (p.Gly425Val) c.1400G>T (p.Gly467Val) c.1940G>T (p.Gly647Val) n.2077G>T | dbSNP gnomAD v4 |
12 | g.80484521A>C | CA480815503 | PTPRQ | c.1275A>C (p.Gly425=) c.1401A>C (p.Gly467=) c.1941A>C (p.Gly647=) n.2078A>C | |
12 | g.80484521A>G | CA480815504 | PTPRQ | c.1275A>G (p.Gly425=) c.1401A>G (p.Gly467=) c.1941A>G (p.Gly647=) n.2078A>G | |
12 | g.80484521A>T | CA480815505 | PTPRQ | c.1275A>T (p.Gly425=) c.1401A>T (p.Gly467=) c.1941A>T (p.Gly647=) n.2078A>T | |
12 | g.80484522A>C | CA385883925 | PTPRQ | c.1276A>C (p.Ile426Leu) c.1402A>C (p.Ile468Leu) c.1942A>C (p.Ile648Leu) n.2079A>C | |
12 | g.80484522A>G | CA385883923 | PTPRQ | c.1276A>G (p.Ile426Val) c.1402A>G (p.Ile468Val) c.1942A>G (p.Ile648Val) n.2079A>G | |
12 | g.80484522A>T | CA385883921 | PTPRQ | c.1276A>T (p.Ile426Phe) c.1402A>T (p.Ile468Phe) c.1942A>T (p.Ile648Phe) n.2079A>T | gnomAD v4 |
12 | g.80484523T>A | CA385883926 | PTPRQ | c.1277T>A (p.Ile426Asn) c.1403T>A (p.Ile468Asn) c.1943T>A (p.Ile648Asn) n.2080T>A | |
12 | g.80484523T>C | CA385883927 | PTPRQ | c.1277T>C (p.Ile426Thr) c.1403T>C (p.Ile468Thr) c.1943T>C (p.Ile648Thr) n.2080T>C | |
12 | g.80484523T>G | CA385883930 | PTPRQ | c.1277T>G (p.Ile426Ser) c.1403T>G (p.Ile468Ser) c.1943T>G (p.Ile648Ser) n.2080T>G | |
12 | g.80484524T>A | CA480815506 | PTPRQ | c.1278T>A (p.Ile426=) c.1404T>A (p.Ile468=) c.1944T>A (p.Ile648=) n.2081T>A | |
12 | g.80484524T>C | CA480815507 | PTPRQ | c.1278T>C (p.Ile426=) c.1404T>C (p.Ile468=) c.1944T>C (p.Ile648=) n.2081T>C | |
12 | g.80484524T>G | CA385883932 | PTPRQ | c.1278T>G (p.Ile426Met) c.1404T>G (p.Ile468Met) c.1944T>G (p.Ile648Met) n.2081T>G | |
12 | g.80484525A>C | CA385883934 | PTPRQ | c.1279A>C (p.Ile427Leu) c.1405A>C (p.Ile469Leu) c.1945A>C (p.Ile649Leu) n.2082A>C | |
12 | g.80484525A>G | CA385883936 | PTPRQ | c.1279A>G (p.Ile427Val) c.1405A>G (p.Ile469Val) c.1945A>G (p.Ile649Val) n.2082A>G | |
12 | g.80484525A>T | CA385883938 | PTPRQ | c.1279A>T (p.Ile427Phe) c.1405A>T (p.Ile469Phe) c.1945A>T (p.Ile649Phe) n.2082A>T | |
12 | g.80484526T>A | CA385883940 | PTPRQ | c.1280T>A (p.Ile427Asn) c.1406T>A (p.Ile469Asn) c.1946T>A (p.Ile649Asn) n.2083T>A | |
12 | g.80484526T>C | CA385883942 | PTPRQ | c.1280T>C (p.Ile427Thr) c.1406T>C (p.Ile469Thr) c.1946T>C (p.Ile649Thr) n.2083T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.80484526T>G | CA385883944 | PTPRQ | c.1280T>G (p.Ile427Ser) c.1406T>G (p.Ile469Ser) c.1946T>G (p.Ile649Ser) n.2083T>G | |
12 | g.80484526T= | CA2049270723 | PTPRQ | c.1280T= (p.Ile427=) c.1406T= (p.Ile469=) c.1946T= (p.Ile649=) n.2083T= | |
12 | g.80484527T>A | CA480815508 | PTPRQ | c.1281T>A (p.Ile427=) c.1407T>A (p.Ile469=) c.1947T>A (p.Ile649=) n.2084T>A | |
12 | g.80484527T>C | CA480815509 | PTPRQ | c.1281T>C (p.Ile427=) c.1407T>C (p.Ile469=) c.1947T>C (p.Ile649=) n.2084T>C | |
12 | g.80484527T>G | CA385883946 | PTPRQ | c.1281T>G (p.Ile427Met) c.1407T>G (p.Ile469Met) c.1947T>G (p.Ile649Met) n.2084T>G | |
12 | g.80484528A>C | CA385883952 | PTPRQ | c.1282A>C (p.Asn428His) c.1408A>C (p.Asn470His) c.1948A>C (p.Asn650His) n.2085A>C | |
12 | g.80484528A>G | CA385883950 | PTPRQ | c.1282A>G (p.Asn428Asp) c.1408A>G (p.Asn470Asp) c.1948A>G (p.Asn650Asp) n.2085A>G | |
12 | g.80484528A>T | CA385883948 | PTPRQ | c.1282A>T (p.Asn428Tyr) c.1408A>T (p.Asn470Tyr) c.1948A>T (p.Asn650Tyr) n.2085A>T | |
12 | g.80484529A= | CA2049270724 | PTPRQ | c.1283A= (p.Asn428=) c.1409A= (p.Asn470=) c.1949A= (p.Asn650=) n.2086A= | |
12 | g.80484529A>C | CA385883953 | PTPRQ | c.1283A>C (p.Asn428Thr) c.1409A>C (p.Asn470Thr) c.1949A>C (p.Asn650Thr) n.2086A>C | |
12 | g.80484529A>G | CA385883955 | PTPRQ | c.1283A>G (p.Asn428Ser) c.1409A>G (p.Asn470Ser) c.1949A>G (p.Asn650Ser) n.2086A>G | |
12 | g.80484529A>T | CA385883957 | PTPRQ | c.1283A>T (p.Asn428Ile) c.1409A>T (p.Asn470Ile) c.1949A>T (p.Asn650Ile) n.2086A>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484530C>A | CA385883959 | PTPRQ | c.1284C>A (p.Asn428Lys) c.1410C>A (p.Asn470Lys) c.1950C>A (p.Asn650Lys) n.2087C>A | |
12 | g.80484530C>G | CA385883960 | PTPRQ | c.1284C>G (p.Asn428Lys) c.1410C>G (p.Asn470Lys) c.1950C>G (p.Asn650Lys) n.2087C>G | |
12 | g.80484530C>T | CA480815510 | PTPRQ | c.1284C>T (p.Asn428=) c.1410C>T (p.Asn470=) c.1950C>T (p.Asn650=) n.2087C>T | gnomAD v4 |
12 | g.80484531C>A | CA385883963 | PTPRQ | c.1285C>A (p.Gln429Lys) c.1411C>A (p.Gln471Lys) c.1951C>A (p.Gln651Lys) n.2088C>A | |
12 | g.80484531C= | CA2049270725 | PTPRQ | c.1285C= (p.Gln429=) c.1411C= (p.Gln471=) c.1951C= (p.Gln651=) n.2088C= | |
12 | g.80484531C>G | CA6702411 | PTPRQ | c.1285C>G (p.Gln429Glu) c.1411C>G (p.Gln471Glu) c.1951C>G (p.Gln651Glu) n.2088C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484531C>T | CA385883966 | PTPRQ | c.1285C>T (p.Gln429Ter) c.1411C>T (p.Gln471Ter) c.1951C>T (p.Gln651Ter) n.2088C>T | |
12 | g.80484532A>C | CA385883968 | PTPRQ | c.1286A>C (p.Gln429Pro) c.1412A>C (p.Gln471Pro) c.1952A>C (p.Gln651Pro) n.2089A>C | |
12 | g.80484532A>G | CA385883970 | PTPRQ | c.1286A>G (p.Gln429Arg) c.1412A>G (p.Gln471Arg) c.1952A>G (p.Gln651Arg) n.2089A>G | |
12 | g.80484532A>T | CA385883972 | PTPRQ | c.1286A>T (p.Gln429Leu) c.1412A>T (p.Gln471Leu) c.1952A>T (p.Gln651Leu) n.2089A>T | |
12 | g.80484533A>C | CA385883974 | PTPRQ | c.1287A>C (p.Gln429His) c.1413A>C (p.Gln471His) c.1953A>C (p.Gln651His) n.2090A>C | |
12 | g.80484533A>G | CA480815511 | PTPRQ | c.1287A>G (p.Gln429=) c.1413A>G (p.Gln471=) c.1953A>G (p.Gln651=) n.2090A>G | gnomAD v4 |
12 | g.80484533A>T | CA385883976 | PTPRQ | c.1287A>T (p.Gln429His) c.1413A>T (p.Gln471His) c.1953A>T (p.Gln651His) n.2090A>T | |
12 | g.80484534T>A | CA385883982 | PTPRQ | c.1288T>A (p.Tyr430Asn) c.1414T>A (p.Tyr472Asn) c.1954T>A (p.Tyr652Asn) n.2091T>A | |
12 | g.80484534T>C | CA385883980 | PTPRQ | c.1288T>C (p.Tyr430His) c.1414T>C (p.Tyr472His) c.1954T>C (p.Tyr652His) n.2091T>C | gnomAD v4 |
12 | g.80484534T>G | CA385883978 | PTPRQ | c.1288T>G (p.Tyr430Asp) c.1414T>G (p.Tyr472Asp) c.1954T>G (p.Tyr652Asp) n.2091T>G | |
12 | g.80484535A>C | CA385883986 | PTPRQ | c.1289A>C (p.Tyr430Ser) c.1415A>C (p.Tyr472Ser) c.1955A>C (p.Tyr652Ser) n.2092A>C | |
12 | g.80484535A>G | CA385883985 | PTPRQ | c.1289A>G (p.Tyr430Cys) c.1415A>G (p.Tyr472Cys) c.1955A>G (p.Tyr652Cys) n.2092A>G | |
12 | g.80484535A>T | CA385883988 | PTPRQ | c.1289A>T (p.Tyr430Phe) c.1415A>T (p.Tyr472Phe) c.1955A>T (p.Tyr652Phe) n.2092A>T |