Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
12 | g.80484536C>A | CA385883990 | PTPRQ | c.1290C>A (p.Tyr430Ter) c.1416C>A (p.Tyr472Ter) c.1956C>A (p.Tyr652Ter) n.2093C>A | |
12 | g.80484536C>G | CA385883991 | PTPRQ | c.1290C>G (p.Tyr430Ter) c.1416C>G (p.Tyr472Ter) c.1956C>G (p.Tyr652Ter) n.2093C>G | |
12 | g.80484536C>T | CA480815512 | PTPRQ | c.1290C>T (p.Tyr430=) c.1416C>T (p.Tyr472=) c.1956C>T (p.Tyr652=) n.2093C>T | gnomAD v4 |
12 | g.80484537C>A | CA480815513 | PTPRQ | c.1291C>A (p.Arg431=) c.1417C>A (p.Arg473=) c.1957C>A (p.Arg653=) n.2094C>A | gnomAD v4 |
12 | g.80484537C= | CA2049270726 | PTPRQ | c.1291C= (p.Arg431=) c.1417C= (p.Arg473=) c.1957C= (p.Arg653=) n.2094C= | |
12 | g.80484537C>G | CA385883993 | PTPRQ | c.1291C>G (p.Arg431Gly) c.1417C>G (p.Arg473Gly) c.1957C>G (p.Arg653Gly) n.2094C>G | |
12 | g.80484537C>T | CA240247856 | PTPRQ | c.1291C>T (p.Arg431Ter) c.1417C>T (p.Arg473Ter) c.1957C>T (p.Arg653Ter) n.2094C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.80484538G>A | CA6702412 | PTPRQ | c.1292G>A (p.Arg431Gln) c.1418G>A (p.Arg473Gln) c.1958G>A (p.Arg653Gln) n.2095G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484538G>C | CA385883997 | PTPRQ | c.1292G>C (p.Arg431Pro) c.1418G>C (p.Arg473Pro) c.1958G>C (p.Arg653Pro) n.2095G>C | |
12 | g.80484538G= | CA2049270727 | PTPRQ | c.1292G= (p.Arg431=) c.1418G= (p.Arg473=) c.1958G= (p.Arg653=) n.2095G= | |
12 | g.80484538G>T | CA385883998 | PTPRQ | c.1292G>T (p.Arg431Leu) c.1418G>T (p.Arg473Leu) c.1958G>T (p.Arg653Leu) n.2095G>T | gnomAD v4 |
12 | g.80484539A>C | CA480815514 | PTPRQ | c.1293A>C (p.Arg431=) c.1419A>C (p.Arg473=) c.1959A>C (p.Arg653=) n.2096A>C | |
12 | g.80484539A>G | CA480815515 | PTPRQ | c.1293A>G (p.Arg431=) c.1419A>G (p.Arg473=) c.1959A>G (p.Arg653=) n.2096A>G | |
12 | g.80484539A>T | CA480815516 | PTPRQ | c.1293A>T (p.Arg431=) c.1419A>T (p.Arg473=) c.1959A>T (p.Arg653=) n.2096A>T | |
12 | g.80484540G>A | CA385884002 | PTPRQ | c.1294G>A (p.Val432Met) c.1420G>A (p.Val474Met) c.1960G>A (p.Val654Met) n.2097G>A | dbSNP gnomAD v4 |
12 | g.80484540G>C | CA385884003 | PTPRQ | c.1294G>C (p.Val432Leu) c.1420G>C (p.Val474Leu) c.1960G>C (p.Val654Leu) n.2097G>C | |
12 | g.80484540G= | CA2049270728 | PTPRQ | c.1294G= (p.Val432=) c.1420G= (p.Val474=) c.1960G= (p.Val654=) n.2097G= | |
12 | g.80484540G>T | CA385884005 | PTPRQ | c.1294G>T (p.Val432Leu) c.1420G>T (p.Val474Leu) c.1960G>T (p.Val654Leu) n.2097G>T | |
12 | g.80484541T>A | CA385884008 | PTPRQ | c.1295T>A (p.Val432Glu) c.1421T>A (p.Val474Glu) c.1961T>A (p.Val654Glu) n.2098T>A | dbSNP gnomAD v4 |
12 | g.80484541T>C | CA385884009 | PTPRQ | c.1295T>C (p.Val432Ala) c.1421T>C (p.Val474Ala) c.1961T>C (p.Val654Ala) n.2098T>C | gnomAD v4 |
12 | g.80484541T>G | CA385884011 | PTPRQ | c.1295T>G (p.Val432Gly) c.1421T>G (p.Val474Gly) c.1961T>G (p.Val654Gly) n.2098T>G | |
12 | g.80484541T= | CA2049270729 | PTPRQ | c.1295T= (p.Val432=) c.1421T= (p.Val474=) c.1961T= (p.Val654=) n.2098T= | |
12 | g.80484542G>A | CA480815517 | PTPRQ | c.1296G>A (p.Val432=) c.1422G>A (p.Val474=) c.1962G>A (p.Val654=) n.2099G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484542G>C | CA480815518 | PTPRQ | c.1296G>C (p.Val432=) c.1422G>C (p.Val474=) c.1962G>C (p.Val654=) n.2099G>C | |
12 | g.80484542G= | CA2049270730 | PTPRQ | c.1296G= (p.Val432=) c.1422G= (p.Val474=) c.1962G= (p.Val654=) n.2099G= | |
12 | g.80484542G>T | CA480815519 | PTPRQ | c.1296G>T (p.Val432=) c.1422G>T (p.Val474=) c.1962G>T (p.Val654=) n.2099G>T | |
12 | g.80484543A>C | CA385884017 | PTPRQ | c.1297A>C (p.Lys433Gln) c.1423A>C (p.Lys475Gln) c.1963A>C (p.Lys655Gln) n.2100A>C | |
12 | g.80484543A>G | CA385884013 | PTPRQ | c.1297A>G (p.Lys433Glu) c.1423A>G (p.Lys475Glu) c.1963A>G (p.Lys655Glu) n.2100A>G | |
12 | g.80484543A>T | CA385884015 | PTPRQ | c.1297A>T (p.Lys433Ter) c.1423A>T (p.Lys475Ter) c.1963A>T (p.Lys655Ter) n.2100A>T | gnomAD v4 |
12 | g.80484544A>C | CA385884019 | PTPRQ | c.1298A>C (p.Lys433Thr) c.1424A>C (p.Lys475Thr) c.1964A>C (p.Lys655Thr) n.2101A>C | |
12 | g.80484544A>G | CA385884021 | PTPRQ | c.1298A>G (p.Lys433Arg) c.1424A>G (p.Lys475Arg) c.1964A>G (p.Lys655Arg) n.2101A>G | |
12 | g.80484544A>T | CA385884022 | PTPRQ | c.1298A>T (p.Lys433Ile) c.1424A>T (p.Lys475Ile) c.1964A>T (p.Lys655Ile) n.2101A>T | |
12 | g.80484545A>C | CA385884025 | PTPRQ | c.1299A>C (p.Lys433Asn) c.1425A>C (p.Lys475Asn) c.1965A>C (p.Lys655Asn) n.2102A>C | |
12 | g.80484545A>G | CA480815520 | PTPRQ | c.1299A>G (p.Lys433=) c.1425A>G (p.Lys475=) c.1965A>G (p.Lys655=) n.2102A>G | |
12 | g.80484545A>T | CA385884026 | PTPRQ | c.1299A>T (p.Lys433Asn) c.1425A>T (p.Lys475Asn) c.1965A>T (p.Lys655Asn) n.2102A>T | |
12 | g.80484546G>A | CA385884028 | PTPRQ | c.1300G>A (p.Val434Met) c.1426G>A (p.Val476Met) c.1966G>A (p.Val656Met) n.2103G>A | |
12 | g.80484546G>C | CA385884030 | PTPRQ | c.1300G>C (p.Val434Leu) c.1426G>C (p.Val476Leu) c.1966G>C (p.Val656Leu) n.2103G>C | |
12 | g.80484546G>T | CA385884032 | PTPRQ | c.1300G>T (p.Val434Leu) c.1426G>T (p.Val476Leu) c.1966G>T (p.Val656Leu) n.2103G>T | |
12 | g.80484547T>A | CA385884034 | PTPRQ | c.1301T>A (p.Val434Glu) c.1427T>A (p.Val476Glu) c.1967T>A (p.Val656Glu) n.2104T>A | |
12 | g.80484547T>C | CA385884036 | PTPRQ | c.1301T>C (p.Val434Ala) c.1427T>C (p.Val476Ala) c.1967T>C (p.Val656Ala) n.2104T>C | |
12 | g.80484547T>G | CA385884038 | PTPRQ | c.1301T>G (p.Val434Gly) c.1427T>G (p.Val476Gly) c.1967T>G (p.Val656Gly) n.2104T>G | |
12 | g.80484548G>A | CA6702413 | PTPRQ | c.1302G>A (p.Val434=) c.1428G>A (p.Val476=) c.1968G>A (p.Val656=) n.2105G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484548G>C | CA480815521 | PTPRQ | c.1302G>C (p.Val434=) c.1428G>C (p.Val476=) c.1968G>C (p.Val656=) n.2105G>C | |
12 | g.80484548G= | CA2049270731 | PTPRQ | c.1302G= (p.Val434=) c.1428G= (p.Val476=) c.1968G= (p.Val656=) n.2105G= | |
12 | g.80484548G>T | CA480815522 | PTPRQ | c.1302G>T (p.Val434=) c.1428G>T (p.Val476=) c.1968G>T (p.Val656=) n.2105G>T | |
12 | g.80484549C>A | CA385884042 | PTPRQ | c.1303C>A (p.Leu435Ile) c.1429C>A (p.Leu477Ile) c.1969C>A (p.Leu657Ile) n.2106C>A | |
12 | g.80484549C= | CA2049270732 | PTPRQ | c.1303C= (p.Leu435=) c.1429C= (p.Leu477=) c.1969C= (p.Leu657=) n.2106C= | |
12 | g.80484549C>G | CA385884044 | PTPRQ | c.1303C>G (p.Leu435Val) c.1429C>G (p.Leu477Val) c.1969C>G (p.Leu657Val) n.2106C>G | gnomAD v4 |
12 | g.80484549C>T | CA480815523 | PTPRQ | c.1303C>T (p.Leu435=) c.1429C>T (p.Leu477=) c.1969C>T (p.Leu657=) n.2106C>T | dbSNP gnomAD v2 |
12 | g.80484550T>A | CA385884047 | PTPRQ | c.1304T>A (p.Leu435Gln) c.1430T>A (p.Leu477Gln) c.1970T>A (p.Leu657Gln) n.2107T>A | |
12 | g.80484550T>C | CA385884048 | PTPRQ | c.1304T>C (p.Leu435Pro) c.1430T>C (p.Leu477Pro) c.1970T>C (p.Leu657Pro) n.2107T>C | gnomAD v4 |
12 | g.80484550T>G | CA385884050 | PTPRQ | c.1304T>G (p.Leu435Arg) c.1430T>G (p.Leu477Arg) c.1970T>G (p.Leu657Arg) n.2107T>G | |
12 | g.80484551A= | CA2049270733 | PTPRQ | c.1305A= (p.Leu435=) c.1431A= (p.Leu477=) c.1971A= (p.Leu657=) n.2108A= | |
12 | g.80484551A>C | CA480815524 | PTPRQ | c.1305A>C (p.Leu435=) c.1431A>C (p.Leu477=) c.1971A>C (p.Leu657=) n.2108A>C | |
12 | g.80484551A>G | CA480815525 | PTPRQ | c.1305A>G (p.Leu435=) c.1431A>G (p.Leu477=) c.1971A>G (p.Leu657=) n.2108A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80484551A>T | CA480815526 | PTPRQ | c.1305A>T (p.Leu435=) c.1431A>T (p.Leu477=) c.1971A>T (p.Leu657=) n.2108A>T | gnomAD v4 |
12 | g.80484552G>A | CA385884052 | PTPRQ | c.1306G>A (p.Val436Ile) c.1432G>A (p.Val478Ile) c.1972G>A (p.Val658Ile) n.2109G>A | gnomAD v4 |
12 | g.80484552G>C | CA385884054 | PTPRQ | c.1306G>C (p.Val436Leu) c.1432G>C (p.Val478Leu) c.1972G>C (p.Val658Leu) n.2109G>C | |
12 | g.80484552G>T | CA385884056 | PTPRQ | c.1306G>T (p.Val436Phe) c.1432G>T (p.Val478Phe) c.1972G>T (p.Val658Phe) n.2109G>T | |
12 | g.80484553T>A | CA385884058 | PTPRQ | c.1307T>A (p.Val436Asp) c.1433T>A (p.Val478Asp) c.1973T>A (p.Val658Asp) n.2110T>A | |
12 | g.80484553T>C | CA385884060 | PTPRQ | c.1307T>C (p.Val436Ala) c.1433T>C (p.Val478Ala) c.1973T>C (p.Val658Ala) n.2110T>C | |
12 | g.80484553T>G | CA385884062 | PTPRQ | c.1307T>G (p.Val436Gly) c.1433T>G (p.Val478Gly) c.1973T>G (p.Val658Gly) n.2110T>G | |
12 | g.80484554T>A | CA480815529 | PTPRQ | c.1308T>A (p.Val436=) c.1434T>A (p.Val478=) c.1974T>A (p.Val658=) n.2111T>A | |
12 | g.80484554T>C | CA480815528 | PTPRQ | c.1308T>C (p.Val436=) c.1434T>C (p.Val478=) c.1974T>C (p.Val658=) n.2111T>C | |
12 | g.80484554T>G | CA480815527 | PTPRQ | c.1308T>G (p.Val436=) c.1434T>G (p.Val478=) c.1974T>G (p.Val658=) n.2111T>G | |
12 | g.80484555C>A | CA385884064 | PTPRQ | c.1309C>A (p.Pro437Thr) c.1435C>A (p.Pro479Thr) c.1975C>A (p.Pro659Thr) n.2112C>A | |
12 | g.80484555C= | CA2049270734 | PTPRQ | c.1309C= (p.Pro437=) c.1435C= (p.Pro479=) c.1975C= (p.Pro659=) n.2112C= | |
12 | g.80484555C>G | CA385884066 | PTPRQ | c.1309C>G (p.Pro437Ala) c.1435C>G (p.Pro479Ala) c.1975C>G (p.Pro659Ala) n.2112C>G | |
12 | g.80484555C>T | CA385884068 | PTPRQ | c.1309C>T (p.Pro437Ser) c.1435C>T (p.Pro479Ser) c.1975C>T (p.Pro659Ser) n.2112C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484556C>A | CA385884072 | PTPRQ | c.1310C>A (p.Pro437Gln) c.1436C>A (p.Pro479Gln) c.1976C>A (p.Pro659Gln) n.2113C>A | |
12 | g.80484556C>G | CA385884074 | PTPRQ | c.1310C>G (p.Pro437Arg) c.1436C>G (p.Pro479Arg) c.1976C>G (p.Pro659Arg) n.2113C>G | |
12 | g.80484556C>T | CA385884070 | PTPRQ | c.1310C>T (p.Pro437Leu) c.1436C>T (p.Pro479Leu) c.1976C>T (p.Pro659Leu) n.2113C>T | |
12 | g.80484557A>C | CA480815531 | PTPRQ | c.1311A>C (p.Pro437=) c.1437A>C (p.Pro479=) c.1977A>C (p.Pro659=) n.2114A>C | gnomAD v4 |
12 | g.80484557A>G | CA480815532 | PTPRQ | c.1311A>G (p.Pro437=) c.1437A>G (p.Pro479=) c.1977A>G (p.Pro659=) n.2114A>G | gnomAD v4 |
12 | g.80484557A>T | CA480815533 | PTPRQ | c.1311A>T (p.Pro437=) c.1437A>T (p.Pro479=) c.1977A>T (p.Pro659=) n.2114A>T | |
12 | g.80484558G>A | CA385884076 | PTPRQ | c.1312G>A (p.Glu438Lys) c.1438G>A (p.Glu480Lys) c.1978G>A (p.Glu660Lys) n.2115G>A | gnomAD v4 |
12 | g.80484558G>C | CA385884078 | PTPRQ | c.1312G>C (p.Glu438Gln) c.1438G>C (p.Glu480Gln) c.1978G>C (p.Glu660Gln) n.2115G>C | dbSNP |
12 | g.80484558G= | CA2049270735 | PTPRQ | c.1312G= (p.Glu438=) c.1438G= (p.Glu480=) c.1978G= (p.Glu660=) n.2115G= | |
12 | g.80484558G>T | CA385884080 | PTPRQ | c.1312G>T (p.Glu438Ter) c.1438G>T (p.Glu480Ter) c.1978G>T (p.Glu660Ter) n.2115G>T | gnomAD v4 |
12 | g.80484559A= | CA2049270736 | PTPRQ | c.1313A= (p.Glu438=) c.1439A= (p.Glu480=) c.1979A= (p.Glu660=) n.2116A= | |
12 | g.80484559A>C | CA385884083 | PTPRQ | c.1313A>C (p.Glu438Ala) c.1439A>C (p.Glu480Ala) c.1979A>C (p.Glu660Ala) n.2116A>C | |
12 | g.80484559A>G | CA385884084 | PTPRQ | c.1313A>G (p.Glu438Gly) c.1439A>G (p.Glu480Gly) c.1979A>G (p.Glu660Gly) n.2116A>G | dbSNP |
12 | g.80484559A>T | CA385884086 | PTPRQ | c.1313A>T (p.Glu438Val) c.1439A>T (p.Glu480Val) c.1979A>T (p.Glu660Val) n.2116A>T | |
12 | g.80484560G>A | CA480815534 | PTPRQ | c.1314G>A (p.Glu438=) c.1440G>A (p.Glu480=) c.1980G>A (p.Glu660=) n.2117G>A | gnomAD v4 |
12 | g.80484560G>C | CA385884089 | PTPRQ | c.1314G>C (p.Glu438Asp) c.1440G>C (p.Glu480Asp) c.1980G>C (p.Glu660Asp) n.2117G>C | |
12 | g.80484560G>T | CA385884090 | PTPRQ | c.1314G>T (p.Glu438Asp) c.1440G>T (p.Glu480Asp) c.1980G>T (p.Glu660Asp) n.2117G>T | |
12 | g.80484561A>C | CA385884093 | PTPRQ | c.1315A>C (p.Thr439Pro) c.1441A>C (p.Thr481Pro) c.1981A>C (p.Thr661Pro) n.2118A>C | |
12 | g.80484561A>G | CA385884095 | PTPRQ | c.1315A>G (p.Thr439Ala) c.1441A>G (p.Thr481Ala) c.1981A>G (p.Thr661Ala) n.2118A>G | gnomAD v4 |
12 | g.80484561A>T | CA385884096 | PTPRQ | c.1315A>T (p.Thr439Ser) c.1441A>T (p.Thr481Ser) c.1981A>T (p.Thr661Ser) n.2118A>T | gnomAD v4 |
12 | g.80484562C>A | CA385884098 | PTPRQ | c.1316C>A (p.Thr439Lys) c.1442C>A (p.Thr481Lys) c.1982C>A (p.Thr661Lys) n.2119C>A | |
12 | g.80484562C>G | CA385884100 | PTPRQ | c.1316C>G (p.Thr439Arg) c.1442C>G (p.Thr481Arg) c.1982C>G (p.Thr661Arg) n.2119C>G | gnomAD v4 |
12 | g.80484562C>T | CA385884102 | PTPRQ | c.1316C>T (p.Thr439Ile) c.1442C>T (p.Thr481Ile) c.1982C>T (p.Thr661Ile) n.2119C>T | |
12 | g.80484563A= | CA2049270737 | PTPRQ | c.1317A= (p.Thr439=) c.1443A= (p.Thr481=) c.1983A= (p.Thr661=) n.2120A= | |
12 | g.80484563A>C | CA480815535 | PTPRQ | c.1317A>C (p.Thr439=) c.1443A>C (p.Thr481=) c.1983A>C (p.Thr661=) n.2120A>C | gnomAD v4 |
12 | g.80484563A>G | CA480815536 | PTPRQ | c.1317A>G (p.Thr439=) c.1443A>G (p.Thr481=) c.1983A>G (p.Thr661=) n.2120A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.80484563A>T | CA480815537 | PTPRQ | c.1317A>T (p.Thr439=) c.1443A>T (p.Thr481=) c.1983A>T (p.Thr661=) n.2120A>T | |
12 | g.80484564G>A | CA385884107 | PTPRQ | c.1318G>A (p.Gly440Arg) c.1444G>A (p.Gly482Arg) c.1984G>A (p.Gly662Arg) n.2121G>A | |
12 | g.80484564G>C | CA385884109 | PTPRQ | c.1318G>C (p.Gly440Arg) c.1444G>C (p.Gly482Arg) c.1984G>C (p.Gly662Arg) n.2121G>C | |
12 | g.80484564G>T | CA385884105 | PTPRQ | c.1318G>T (p.Gly440Ter) c.1444G>T (p.Gly482Ter) c.1984G>T (p.Gly662Ter) n.2121G>T | |
12 | g.80484565G>A | CA385884111 | PTPRQ | c.1319G>A (p.Gly440Glu) c.1445G>A (p.Gly482Glu) c.1985G>A (p.Gly662Glu) n.2122G>A | |
12 | g.80484565G>C | CA385884113 | PTPRQ | c.1319G>C (p.Gly440Ala) c.1445G>C (p.Gly482Ala) c.1985G>C (p.Gly662Ala) n.2122G>C | |
12 | g.80484565G= | CA2049270738 | PTPRQ | c.1319G= (p.Gly440=) c.1445G= (p.Gly482=) c.1985G= (p.Gly662=) n.2122G= | |
12 | g.80484565G>T | CA240247874 | PTPRQ | c.1319G>T (p.Gly440Val) c.1445G>T (p.Gly482Val) c.1985G>T (p.Gly662Val) n.2122G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80484566A>C | CA480815538 | PTPRQ | c.1320A>C (p.Gly440=) c.1446A>C (p.Gly482=) c.1986A>C (p.Gly662=) n.2123A>C | |
12 | g.80484566A>G | CA480815539 | PTPRQ | c.1320A>G (p.Gly440=) c.1446A>G (p.Gly482=) c.1986A>G (p.Gly662=) n.2123A>G | |
12 | g.80484566A>T | CA480815540 | PTPRQ | c.1320A>T (p.Gly440=) c.1446A>T (p.Gly482=) c.1986A>T (p.Gly662=) n.2123A>T | |
12 | g.80484567A>C | CA385884115 | PTPRQ | c.1321A>C (p.Ile441Leu) c.1447A>C (p.Ile483Leu) c.1987A>C (p.Ile663Leu) n.2124A>C | |
12 | g.80484567A>G | CA385884119 | PTPRQ | c.1321A>G (p.Ile441Val) c.1447A>G (p.Ile483Val) c.1987A>G (p.Ile663Val) n.2124A>G | gnomAD v4 |
12 | g.80484567A>T | CA385884117 | PTPRQ | c.1321A>T (p.Ile441Leu) c.1447A>T (p.Ile483Leu) c.1987A>T (p.Ile663Leu) n.2124A>T | |
12 | g.80484568T>A | CA385884121 | PTPRQ | c.1322T>A (p.Ile441Lys) c.1448T>A (p.Ile483Lys) c.1988T>A (p.Ile663Lys) n.2125T>A | |
12 | g.80484568T>C | CA385884123 | PTPRQ | c.1322T>C (p.Ile441Thr) c.1448T>C (p.Ile483Thr) c.1988T>C (p.Ile663Thr) n.2125T>C | |
12 | g.80484568T>G | CA385884125 | PTPRQ | c.1322T>G (p.Ile441Arg) c.1448T>G (p.Ile483Arg) c.1988T>G (p.Ile663Arg) n.2125T>G | |
12 | g.80484569A>C | CA480815541 | PTPRQ | c.1323A>C (p.Ile441=) c.1449A>C (p.Ile483=) c.1989A>C (p.Ile663=) n.2126A>C | |
12 | g.80484569A>G | CA385884127 | PTPRQ | c.1323A>G (p.Ile441Met) c.1449A>G (p.Ile483Met) c.1989A>G (p.Ile663Met) n.2126A>G | |
12 | g.80484569A>T | CA480815542 | PTPRQ | c.1323A>T (p.Ile441=) c.1449A>T (p.Ile483=) c.1989A>T (p.Ile663=) n.2126A>T | |
12 | g.80484570A>C | CA385884129 | PTPRQ | c.1324A>C (p.Ile442Leu) c.1450A>C (p.Ile484Leu) c.1990A>C (p.Ile664Leu) n.2127A>C | |
12 | g.80484570A>G | CA385884131 | PTPRQ | c.1324A>G (p.Ile442Val) c.1450A>G (p.Ile484Val) c.1990A>G (p.Ile664Val) n.2127A>G | |
12 | g.80484570A>T | CA385884133 | PTPRQ | c.1324A>T (p.Ile442Phe) c.1450A>T (p.Ile484Phe) c.1990A>T (p.Ile664Phe) n.2127A>T |