Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.27862558G>A | CA376492667 | ODAD2 | c.2675C>T (p.Ser892Leu) c.1751C>T (p.Ser584Leu) c.1250C>T (p.Ser417Leu) c.2465C>T (p.Ser822Leu) c.1589C>T (p.Ser530Leu) c.2804C>T (p.Ser935Leu) c.2594C>T (p.Ser865Leu) c.1880C>T (p.Ser627Leu) c.1718C>T (p.Ser573Leu) c.1379C>T (p.Ser460Leu) | |
10 | g.27862558G>C | CA376492666 | ODAD2 | c.2675C>G (p.Ser892Ter) c.1751C>G (p.Ser584Ter) c.1250C>G (p.Ser417Ter) c.2465C>G (p.Ser822Ter) c.1589C>G (p.Ser530Ter) c.2804C>G (p.Ser935Ter) c.2594C>G (p.Ser865Ter) c.1880C>G (p.Ser627Ter) c.1718C>G (p.Ser573Ter) c.1379C>G (p.Ser460Ter) | |
10 | g.27862558G>T | CA214699 | ODAD2 | c.2675C>A (p.Ser892Ter) c.1751C>A (p.Ser584Ter) c.1250C>A (p.Ser417Ter) c.2465C>A (p.Ser822Ter) c.1589C>A (p.Ser530Ter) c.2804C>A (p.Ser935Ter) c.2594C>A (p.Ser865Ter) c.1880C>A (p.Ser627Ter) c.1718C>A (p.Ser573Ter) c.1379C>A (p.Ser460Ter) | ClinVar dbSNP |
10 | g.27862559A>C | CA376492668 | ODAD2 | c.2674T>G (p.Ser892Ala) c.1750T>G (p.Ser584Ala) c.1249T>G (p.Ser417Ala) c.2464T>G (p.Ser822Ala) c.1588T>G (p.Ser530Ala) c.2803T>G (p.Ser935Ala) c.2593T>G (p.Ser865Ala) c.1879T>G (p.Ser627Ala) c.1717T>G (p.Ser573Ala) c.1378T>G (p.Ser460Ala) | |
10 | g.27862559A>G | CA376492670 | ODAD2 | c.2674T>C (p.Ser892Pro) c.1750T>C (p.Ser584Pro) c.1249T>C (p.Ser417Pro) c.2464T>C (p.Ser822Pro) c.1588T>C (p.Ser530Pro) c.2803T>C (p.Ser935Pro) c.2593T>C (p.Ser865Pro) c.1879T>C (p.Ser627Pro) c.1717T>C (p.Ser573Pro) c.1378T>C (p.Ser460Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.27862559A>T | CA376492669 | ODAD2 | c.2674T>A (p.Ser892Thr) c.1750T>A (p.Ser584Thr) c.1249T>A (p.Ser417Thr) c.2464T>A (p.Ser822Thr) c.1588T>A (p.Ser530Thr) c.2803T>A (p.Ser935Thr) c.2593T>A (p.Ser865Thr) c.1879T>A (p.Ser627Thr) c.1717T>A (p.Ser573Thr) c.1378T>A (p.Ser460Thr) | |
10 | g.27862560T>A | CA376492671 | ODAD2 | c.2673A>T (p.Lys891Asn) c.1749A>T (p.Lys583Asn) c.1248A>T (p.Lys416Asn) c.2463A>T (p.Lys821Asn) c.1587A>T (p.Lys529Asn) c.2802A>T (p.Lys934Asn) c.2592A>T (p.Lys864Asn) c.1878A>T (p.Lys626Asn) c.1716A>T (p.Lys572Asn) c.1377A>T (p.Lys459Asn) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.27862560T>C | CA468852407 | ODAD2 | c.2673A>G (p.Lys891=) c.1749A>G (p.Lys583=) c.1248A>G (p.Lys416=) c.2463A>G (p.Lys821=) c.1587A>G (p.Lys529=) c.2802A>G (p.Lys934=) c.2592A>G (p.Lys864=) c.1878A>G (p.Lys626=) c.1716A>G (p.Lys572=) c.1377A>G (p.Lys459=) | |
10 | g.27862560T>G | CA376492672 | ODAD2 | c.2673A>C (p.Lys891Asn) c.1749A>C (p.Lys583Asn) c.1248A>C (p.Lys416Asn) c.2463A>C (p.Lys821Asn) c.1587A>C (p.Lys529Asn) c.2802A>C (p.Lys934Asn) c.2592A>C (p.Lys864Asn) c.1878A>C (p.Lys626Asn) c.1716A>C (p.Lys572Asn) c.1377A>C (p.Lys459Asn) | |
10 | g.27862561T>A | CA376492673 | ODAD2 | c.2672A>T (p.Lys891Ile) c.1748A>T (p.Lys583Ile) c.1247A>T (p.Lys416Ile) c.2462A>T (p.Lys821Ile) c.1586A>T (p.Lys529Ile) c.2801A>T (p.Lys934Ile) c.2591A>T (p.Lys864Ile) c.1877A>T (p.Lys626Ile) c.1715A>T (p.Lys572Ile) c.1376A>T (p.Lys459Ile) | |
10 | g.27862561T>C | CA376492674 | ODAD2 | c.2672A>G (p.Lys891Arg) c.1748A>G (p.Lys583Arg) c.1247A>G (p.Lys416Arg) c.2462A>G (p.Lys821Arg) c.1586A>G (p.Lys529Arg) c.2801A>G (p.Lys934Arg) c.2591A>G (p.Lys864Arg) c.1877A>G (p.Lys626Arg) c.1715A>G (p.Lys572Arg) c.1376A>G (p.Lys459Arg) | |
10 | g.27862561T>G | CA376492675 | ODAD2 | c.2672A>C (p.Lys891Thr) c.1748A>C (p.Lys583Thr) c.1247A>C (p.Lys416Thr) c.2462A>C (p.Lys821Thr) c.1586A>C (p.Lys529Thr) c.2801A>C (p.Lys934Thr) c.2591A>C (p.Lys864Thr) c.1877A>C (p.Lys626Thr) c.1715A>C (p.Lys572Thr) c.1376A>C (p.Lys459Thr) | |
10 | g.27862562T>A | CA5453128 | ODAD2 | c.2671A>T (p.Lys891Ter) c.1747A>T (p.Lys583Ter) c.1246A>T (p.Lys416Ter) c.2461A>T (p.Lys821Ter) c.1585A>T (p.Lys529Ter) c.2800A>T (p.Lys934Ter) c.2590A>T (p.Lys864Ter) c.1876A>T (p.Lys626Ter) c.1714A>T (p.Lys572Ter) c.1375A>T (p.Lys459Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.27862562T>C | CA376492676 | ODAD2 | c.2671A>G (p.Lys891Glu) c.1747A>G (p.Lys583Glu) c.1246A>G (p.Lys416Glu) c.2461A>G (p.Lys821Glu) c.1585A>G (p.Lys529Glu) c.2800A>G (p.Lys934Glu) c.2590A>G (p.Lys864Glu) c.1876A>G (p.Lys626Glu) c.1714A>G (p.Lys572Glu) c.1375A>G (p.Lys459Glu) | |
10 | g.27862562T>G | CA376492677 | ODAD2 | c.2671A>C (p.Lys891Gln) c.1747A>C (p.Lys583Gln) c.1246A>C (p.Lys416Gln) c.2461A>C (p.Lys821Gln) c.1585A>C (p.Lys529Gln) c.2800A>C (p.Lys934Gln) c.2590A>C (p.Lys864Gln) c.1876A>C (p.Lys626Gln) c.1714A>C (p.Lys572Gln) c.1375A>C (p.Lys459Gln) | dbSNP gnomAD v4 |
10 | g.27862563C>A | CA468852411 | ODAD2 | c.2670G>T (p.Leu890=) c.1746G>T (p.Leu582=) c.1245G>T (p.Leu415=) c.2460G>T (p.Leu820=) c.1584G>T (p.Leu528=) c.2799G>T (p.Leu933=) c.2589G>T (p.Leu863=) c.1875G>T (p.Leu625=) c.1713G>T (p.Leu571=) c.1374G>T (p.Leu458=) | |
10 | g.27862563C>G | CA468852412 | ODAD2 | c.2670G>C (p.Leu890=) c.1746G>C (p.Leu582=) c.1245G>C (p.Leu415=) c.2460G>C (p.Leu820=) c.1584G>C (p.Leu528=) c.2799G>C (p.Leu933=) c.2589G>C (p.Leu863=) c.1875G>C (p.Leu625=) c.1713G>C (p.Leu571=) c.1374G>C (p.Leu458=) | |
10 | g.27862563C>T | CA5453129 | ODAD2 | c.2670G>A (p.Leu890=) c.1746G>A (p.Leu582=) c.1245G>A (p.Leu415=) c.2460G>A (p.Leu820=) c.1584G>A (p.Leu528=) c.2799G>A (p.Leu933=) c.2589G>A (p.Leu863=) c.1875G>A (p.Leu625=) c.1713G>A (p.Leu571=) c.1374G>A (p.Leu458=) | dbSNP ExAC |
10 | g.27862564A>C | CA376492678 | ODAD2 | c.2669T>G (p.Leu890Arg) c.1745T>G (p.Leu582Arg) c.1244T>G (p.Leu415Arg) c.2459T>G (p.Leu820Arg) c.1583T>G (p.Leu528Arg) c.2798T>G (p.Leu933Arg) c.2588T>G (p.Leu863Arg) c.1874T>G (p.Leu625Arg) c.1712T>G (p.Leu571Arg) c.1373T>G (p.Leu458Arg) | |
10 | g.27862564A>G | CA376492679 | ODAD2 | c.2669T>C (p.Leu890Pro) c.1745T>C (p.Leu582Pro) c.1244T>C (p.Leu415Pro) c.2459T>C (p.Leu820Pro) c.1583T>C (p.Leu528Pro) c.2798T>C (p.Leu933Pro) c.2588T>C (p.Leu863Pro) c.1874T>C (p.Leu625Pro) c.1712T>C (p.Leu571Pro) c.1373T>C (p.Leu458Pro) | gnomAD v4 |
10 | g.27862564A>T | CA376492680 | ODAD2 | c.2669T>A (p.Leu890Gln) c.1745T>A (p.Leu582Gln) c.1244T>A (p.Leu415Gln) c.2459T>A (p.Leu820Gln) c.1583T>A (p.Leu528Gln) c.2798T>A (p.Leu933Gln) c.2588T>A (p.Leu863Gln) c.1874T>A (p.Leu625Gln) c.1712T>A (p.Leu571Gln) c.1373T>A (p.Leu458Gln) | |
10 | g.27862565G>A | CA468852414 | ODAD2 | c.2668C>T (p.Leu890=) c.1744C>T (p.Leu582=) c.1243C>T (p.Leu415=) c.2458C>T (p.Leu820=) c.1582C>T (p.Leu528=) c.2797C>T (p.Leu933=) c.2587C>T (p.Leu863=) c.1873C>T (p.Leu625=) c.1711C>T (p.Leu571=) c.1372C>T (p.Leu458=) | |
10 | g.27862565G>C | CA376492681 | ODAD2 | c.2668C>G (p.Leu890Val) c.1744C>G (p.Leu582Val) c.1243C>G (p.Leu415Val) c.2458C>G (p.Leu820Val) c.1582C>G (p.Leu528Val) c.2797C>G (p.Leu933Val) c.2587C>G (p.Leu863Val) c.1873C>G (p.Leu625Val) c.1711C>G (p.Leu571Val) c.1372C>G (p.Leu458Val) | |
10 | g.27862565G>T | CA376492682 | ODAD2 | c.2668C>A (p.Leu890Met) c.1744C>A (p.Leu582Met) c.1243C>A (p.Leu415Met) c.2458C>A (p.Leu820Met) c.1582C>A (p.Leu528Met) c.2797C>A (p.Leu933Met) c.2587C>A (p.Leu863Met) c.1873C>A (p.Leu625Met) c.1711C>A (p.Leu571Met) c.1372C>A (p.Leu458Met) | |
10 | g.27862566T>A | CA376492683 | ODAD2 | c.2667A>T (p.Leu889Phe) c.1743A>T (p.Leu581Phe) c.1242A>T (p.Leu414Phe) c.2457A>T (p.Leu819Phe) c.1581A>T (p.Leu527Phe) c.2796A>T (p.Leu932Phe) c.2586A>T (p.Leu862Phe) c.1872A>T (p.Leu624Phe) c.1710A>T (p.Leu570Phe) c.1371A>T (p.Leu457Phe) | |
10 | g.27862566T>C | CA468852416 | ODAD2 | c.2667A>G (p.Leu889=) c.1743A>G (p.Leu581=) c.1242A>G (p.Leu414=) c.2457A>G (p.Leu819=) c.1581A>G (p.Leu527=) c.2796A>G (p.Leu932=) c.2586A>G (p.Leu862=) c.1872A>G (p.Leu624=) c.1710A>G (p.Leu570=) c.1371A>G (p.Leu457=) | dbSNP |
10 | g.27862566T>G | CA376492684 | ODAD2 | c.2667A>C (p.Leu889Phe) c.1743A>C (p.Leu581Phe) c.1242A>C (p.Leu414Phe) c.2457A>C (p.Leu819Phe) c.1581A>C (p.Leu527Phe) c.2796A>C (p.Leu932Phe) c.2586A>C (p.Leu862Phe) c.1872A>C (p.Leu624Phe) c.1710A>C (p.Leu570Phe) c.1371A>C (p.Leu457Phe) | |
10 | g.27862567A>C | CA376492685 | ODAD2 | c.2666T>G (p.Leu889Ter) c.1742T>G (p.Leu581Ter) c.1241T>G (p.Leu414Ter) c.2456T>G (p.Leu819Ter) c.1580T>G (p.Leu527Ter) c.2795T>G (p.Leu932Ter) c.2585T>G (p.Leu862Ter) c.1871T>G (p.Leu624Ter) c.1709T>G (p.Leu570Ter) c.1370T>G (p.Leu457Ter) | |
10 | g.27862567A>G | CA376492686 | ODAD2 | c.2666T>C (p.Leu889Ser) c.1742T>C (p.Leu581Ser) c.1241T>C (p.Leu414Ser) c.2456T>C (p.Leu819Ser) c.1580T>C (p.Leu527Ser) c.2795T>C (p.Leu932Ser) c.2585T>C (p.Leu862Ser) c.1871T>C (p.Leu624Ser) c.1709T>C (p.Leu570Ser) c.1370T>C (p.Leu457Ser) | |
10 | g.27862567A>T | CA376492687 | ODAD2 | c.2666T>A (p.Leu889Ter) c.1742T>A (p.Leu581Ter) c.1241T>A (p.Leu414Ter) c.2456T>A (p.Leu819Ter) c.1580T>A (p.Leu527Ter) c.2795T>A (p.Leu932Ter) c.2585T>A (p.Leu862Ter) c.1871T>A (p.Leu624Ter) c.1709T>A (p.Leu570Ter) c.1370T>A (p.Leu457Ter) | |
10 | g.27862568A>C | CA376492688 | ODAD2 | c.2665T>G (p.Leu889Val) c.1741T>G (p.Leu581Val) c.1240T>G (p.Leu414Val) c.2455T>G (p.Leu819Val) c.1579T>G (p.Leu527Val) c.2794T>G (p.Leu932Val) c.2584T>G (p.Leu862Val) c.1870T>G (p.Leu624Val) c.1708T>G (p.Leu570Val) c.1369T>G (p.Leu457Val) | |
10 | g.27862568A>G | CA205047837 | ODAD2 | c.2665T>C (p.Leu889=) c.1741T>C (p.Leu581=) c.1240T>C (p.Leu414=) c.2455T>C (p.Leu819=) c.1579T>C (p.Leu527=) c.2794T>C (p.Leu932=) c.2584T>C (p.Leu862=) c.1870T>C (p.Leu624=) c.1708T>C (p.Leu570=) c.1369T>C (p.Leu457=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.27862568A>T | CA376492689 | ODAD2 | c.2665T>A (p.Leu889Ile) c.1741T>A (p.Leu581Ile) c.1240T>A (p.Leu414Ile) c.2455T>A (p.Leu819Ile) c.1579T>A (p.Leu527Ile) c.2794T>A (p.Leu932Ile) c.2584T>A (p.Leu862Ile) c.1870T>A (p.Leu624Ile) c.1708T>A (p.Leu570Ile) c.1369T>A (p.Leu457Ile) | |
10 | g.27862569A>C | CA376492690 | ODAD2 | c.2664T>G (p.Asn888Lys) c.1740T>G (p.Asn580Lys) c.1239T>G (p.Asn413Lys) c.2454T>G (p.Asn818Lys) c.1578T>G (p.Asn526Lys) c.2793T>G (p.Asn931Lys) c.2583T>G (p.Asn861Lys) c.1869T>G (p.Asn623Lys) c.1707T>G (p.Asn569Lys) c.1368T>G (p.Asn456Lys) | |
10 | g.27862569A>G | CA468852421 | ODAD2 | c.2664T>C (p.Asn888=) c.1740T>C (p.Asn580=) c.1239T>C (p.Asn413=) c.2454T>C (p.Asn818=) c.1578T>C (p.Asn526=) c.2793T>C (p.Asn931=) c.2583T>C (p.Asn861=) c.1869T>C (p.Asn623=) c.1707T>C (p.Asn569=) c.1368T>C (p.Asn456=) | |
10 | g.27862569A>T | CA376492691 | ODAD2 | c.2664T>A (p.Asn888Lys) c.1740T>A (p.Asn580Lys) c.1239T>A (p.Asn413Lys) c.2454T>A (p.Asn818Lys) c.1578T>A (p.Asn526Lys) c.2793T>A (p.Asn931Lys) c.2583T>A (p.Asn861Lys) c.1869T>A (p.Asn623Lys) c.1707T>A (p.Asn569Lys) c.1368T>A (p.Asn456Lys) | |
10 | g.27862570T>A | CA376492692 | ODAD2 | c.2663A>T (p.Asn888Ile) c.1739A>T (p.Asn580Ile) c.1238A>T (p.Asn413Ile) c.2453A>T (p.Asn818Ile) c.1577A>T (p.Asn526Ile) c.2792A>T (p.Asn931Ile) c.2582A>T (p.Asn861Ile) c.1868A>T (p.Asn623Ile) c.1706A>T (p.Asn569Ile) c.1367A>T (p.Asn456Ile) | gnomAD v4 |
10 | g.27862570T>C | CA376492693 | ODAD2 | c.2663A>G (p.Asn888Ser) c.1739A>G (p.Asn580Ser) c.1238A>G (p.Asn413Ser) c.2453A>G (p.Asn818Ser) c.1577A>G (p.Asn526Ser) c.2792A>G (p.Asn931Ser) c.2582A>G (p.Asn861Ser) c.1868A>G (p.Asn623Ser) c.1706A>G (p.Asn569Ser) c.1367A>G (p.Asn456Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.27862570T>G | CA376492694 | ODAD2 | c.2663A>C (p.Asn888Thr) c.1739A>C (p.Asn580Thr) c.1238A>C (p.Asn413Thr) c.2453A>C (p.Asn818Thr) c.1577A>C (p.Asn526Thr) c.2792A>C (p.Asn931Thr) c.2582A>C (p.Asn861Thr) c.1868A>C (p.Asn623Thr) c.1706A>C (p.Asn569Thr) c.1367A>C (p.Asn456Thr) | |
10 | g.27862571T>A | CA376492696 | ODAD2 | c.2662A>T (p.Asn888Tyr) c.1738A>T (p.Asn580Tyr) c.1237A>T (p.Asn413Tyr) c.2452A>T (p.Asn818Tyr) c.1576A>T (p.Asn526Tyr) c.2791A>T (p.Asn931Tyr) c.2581A>T (p.Asn861Tyr) c.1867A>T (p.Asn623Tyr) c.1705A>T (p.Asn569Tyr) c.1366A>T (p.Asn456Tyr) | |
10 | g.27862571T>C | CA376492697 | ODAD2 | c.2662A>G (p.Asn888Asp) c.1738A>G (p.Asn580Asp) c.1237A>G (p.Asn413Asp) c.2452A>G (p.Asn818Asp) c.1576A>G (p.Asn526Asp) c.2791A>G (p.Asn931Asp) c.2581A>G (p.Asn861Asp) c.1867A>G (p.Asn623Asp) c.1705A>G (p.Asn569Asp) c.1366A>G (p.Asn456Asp) | |
10 | g.27862571T>G | CA376492695 | ODAD2 | c.2662A>C (p.Asn888His) c.1738A>C (p.Asn580His) c.1237A>C (p.Asn413His) c.2452A>C (p.Asn818His) c.1576A>C (p.Asn526His) c.2791A>C (p.Asn931His) c.2581A>C (p.Asn861His) c.1867A>C (p.Asn623His) c.1705A>C (p.Asn569His) c.1366A>C (p.Asn456His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.27862572G>A | CA468852425 | ODAD2 | c.2661C>T (p.Val887=) c.1737C>T (p.Val579=) c.1236C>T (p.Val412=) c.2451C>T (p.Val817=) c.1575C>T (p.Val525=) c.2790C>T (p.Val930=) c.2580C>T (p.Val860=) c.1866C>T (p.Val622=) c.1704C>T (p.Val568=) c.1365C>T (p.Val455=) | |
10 | g.27862572G>C | CA468852429 | ODAD2 | c.2661C>G (p.Val887=) c.1737C>G (p.Val579=) c.1236C>G (p.Val412=) c.2451C>G (p.Val817=) c.1575C>G (p.Val525=) c.2790C>G (p.Val930=) c.2580C>G (p.Val860=) c.1866C>G (p.Val622=) c.1704C>G (p.Val568=) c.1365C>G (p.Val455=) | |
10 | g.27862572G>T | CA468852427 | ODAD2 | c.2661C>A (p.Val887=) c.1737C>A (p.Val579=) c.1236C>A (p.Val412=) c.2451C>A (p.Val817=) c.1575C>A (p.Val525=) c.2790C>A (p.Val930=) c.2580C>A (p.Val860=) c.1866C>A (p.Val622=) c.1704C>A (p.Val568=) c.1365C>A (p.Val455=) | |
10 | g.27862573A>C | CA376492698 | ODAD2 | c.2660T>G (p.Val887Gly) c.1736T>G (p.Val579Gly) c.1235T>G (p.Val412Gly) c.2450T>G (p.Val817Gly) c.1574T>G (p.Val525Gly) c.2789T>G (p.Val930Gly) c.2579T>G (p.Val860Gly) c.1865T>G (p.Val622Gly) c.1703T>G (p.Val568Gly) c.1364T>G (p.Val455Gly) | |
10 | g.27862573A>G | CA5453130 | ODAD2 | c.2660T>C (p.Val887Ala) c.1736T>C (p.Val579Ala) c.1235T>C (p.Val412Ala) c.2450T>C (p.Val817Ala) c.1574T>C (p.Val525Ala) c.2789T>C (p.Val930Ala) c.2579T>C (p.Val860Ala) c.1865T>C (p.Val622Ala) c.1703T>C (p.Val568Ala) c.1364T>C (p.Val455Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.27862573A>T | CA376492699 | ODAD2 | c.2660T>A (p.Val887Asp) c.1736T>A (p.Val579Asp) c.1235T>A (p.Val412Asp) c.2450T>A (p.Val817Asp) c.1574T>A (p.Val525Asp) c.2789T>A (p.Val930Asp) c.2579T>A (p.Val860Asp) c.1865T>A (p.Val622Asp) c.1703T>A (p.Val568Asp) c.1364T>A (p.Val455Asp) | |
10 | g.27862574C>A | CA376492700 | ODAD2 | c.2659G>T (p.Val887Phe) c.1735G>T (p.Val579Phe) c.1234G>T (p.Val412Phe) c.2449G>T (p.Val817Phe) c.1573G>T (p.Val525Phe) c.2788G>T (p.Val930Phe) c.2578G>T (p.Val860Phe) c.1864G>T (p.Val622Phe) c.1702G>T (p.Val568Phe) c.1363G>T (p.Val455Phe) | |
10 | g.27862574C>G | CA376492701 | ODAD2 | c.2659G>C (p.Val887Leu) c.1735G>C (p.Val579Leu) c.1234G>C (p.Val412Leu) c.2449G>C (p.Val817Leu) c.1573G>C (p.Val525Leu) c.2788G>C (p.Val930Leu) c.2578G>C (p.Val860Leu) c.1864G>C (p.Val622Leu) c.1702G>C (p.Val568Leu) c.1363G>C (p.Val455Leu) |