Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18785024A>C | CA404878723 | COMP | c.1786T>G (p.Tyr596Asp) c.1627T>G (p.Tyr543Asp) c.1687T>G (p.Tyr563Asp) | gnomAD v4 |
19 | g.18785024A>G | CA404878730 | COMP | c.1786T>C (p.Tyr596His) c.1627T>C (p.Tyr543His) c.1687T>C (p.Tyr563His) | gnomAD v4 |
19 | g.18785024A>T | CA404878736 | COMP | c.1786T>A (p.Tyr596Asn) c.1627T>A (p.Tyr543Asn) c.1687T>A (p.Tyr563Asn) | |
19 | g.18785025G>A | CA506052413 | COMP | c.1785C>T (p.Asp595=) c.1626C>T (p.Asp542=) c.1686C>T (p.Asp562=) | |
19 | g.18785025G>C | CA404878741 | COMP | c.1785C>G (p.Asp595Glu) c.1626C>G (p.Asp542Glu) c.1686C>G (p.Asp562Glu) | |
19 | g.18785025G>T | CA404878742 | COMP | c.1785C>A (p.Asp595Glu) c.1626C>A (p.Asp542Glu) c.1686C>A (p.Asp562Glu) | |
19 | g.18785026T>A | CA404878743 | COMP | c.1784A>T (p.Asp595Val) c.1625A>T (p.Asp542Val) c.1685A>T (p.Asp562Val) | |
19 | g.18785026T>C | CA404878746 | COMP | c.1784A>G (p.Asp595Gly) c.1625A>G (p.Asp542Gly) c.1685A>G (p.Asp562Gly) | |
19 | g.18785026T>G | CA404878749 | COMP | c.1784A>C (p.Asp595Ala) c.1625A>C (p.Asp542Ala) c.1685A>C (p.Asp562Ala) | |
19 | g.18785027C>A | CA404878778 | COMP | c.1783G>T (p.Asp595Tyr) c.1624G>T (p.Asp542Tyr) c.1684G>T (p.Asp562Tyr) | gnomAD v4 COSMIC |
19 | g.18785027C= | CA2326524922 | COMP | c.1783G= (p.Asp595=) c.1624G= (p.Asp542=) c.1684G= (p.Asp562=) | |
19 | g.18785027C>G | CA404878779 | COMP | c.1783G>C (p.Asp595His) c.1624G>C (p.Asp542His) c.1684G>C (p.Asp562His) | |
19 | g.18785027C>T | CA404878759 | COMP | c.1783G>A (p.Asp595Asn) c.1624G>A (p.Asp542Asn) c.1684G>A (p.Asp562Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.18785028G>A | CA9316269 | COMP | c.1782C>T (p.Asp594=) c.1623C>T (p.Asp541=) c.1683C>T (p.Asp561=) | dbSNP ExAC gnomAD v4 |
19 | g.18785028G>C | CA404878783 | COMP | c.1782C>G (p.Asp594Glu) c.1623C>G (p.Asp541Glu) c.1683C>G (p.Asp561Glu) | gnomAD v4 |
19 | g.18785028G= | CA2326524923 | COMP | c.1782C= (p.Asp594=) c.1623C= (p.Asp541=) c.1683C= (p.Asp561=) | |
19 | g.18785028G>T | CA404878785 | COMP | c.1782C>A (p.Asp594Glu) c.1623C>A (p.Asp541Glu) c.1683C>A (p.Asp561Glu) | |
19 | g.18785029T>A | CA404878791 | COMP | c.1781A>T (p.Asp594Val) c.1622A>T (p.Asp541Val) c.1682A>T (p.Asp561Val) | |
19 | g.18785029T>C | CA404878794 | COMP | c.1781A>G (p.Asp594Gly) c.1622A>G (p.Asp541Gly) c.1682A>G (p.Asp561Gly) | |
19 | g.18785029T>G | CA404878800 | COMP | c.1781A>C (p.Asp594Ala) c.1622A>C (p.Asp541Ala) c.1682A>C (p.Asp561Ala) | |
19 | g.18785030C>A | CA404878806 | COMP | c.1780G>T (p.Asp594Tyr) c.1621G>T (p.Asp541Tyr) c.1681G>T (p.Asp561Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785030C= | CA2326524924 | COMP | c.1780G= (p.Asp594=) c.1621G= (p.Asp541=) c.1681G= (p.Asp561=) | |
19 | g.18785030C>G | CA404878810 | COMP | c.1780G>C (p.Asp594His) c.1621G>C (p.Asp541His) c.1681G>C (p.Asp561His) | |
19 | g.18785030C>T | CA404878811 | COMP | c.1780G>A (p.Asp594Asn) c.1621G>A (p.Asp541Asn) c.1681G>A (p.Asp561Asn) | gnomAD v4 |
19 | g.18785031A>C | CA404878813 | COMP | c.1779T>G (p.Asp593Glu) c.1620T>G (p.Asp540Glu) c.1680T>G (p.Asp560Glu) | |
19 | g.18785031A>G | CA506052420 | COMP | c.1779T>C (p.Asp593=) c.1620T>C (p.Asp540=) c.1680T>C (p.Asp560=) | gnomAD v4 |
19 | g.18785031A>T | CA404878816 | COMP | c.1779T>A (p.Asp593Glu) c.1620T>A (p.Asp540Glu) c.1680T>A (p.Asp560Glu) | |
19 | g.18785032T>A | CA404878834 | COMP | c.1778A>T (p.Asp593Val) c.1619A>T (p.Asp540Val) c.1679A>T (p.Asp560Val) | |
19 | g.18785032T>C | CA404878831 | COMP | c.1778A>G (p.Asp593Gly) c.1619A>G (p.Asp540Gly) c.1679A>G (p.Asp560Gly) | gnomAD v4 |
19 | g.18785032T>G | CA404878828 | COMP | c.1778A>C (p.Asp593Ala) c.1619A>C (p.Asp540Ala) c.1679A>C (p.Asp560Ala) | |
19 | g.18785033C>A | CA404878838 | COMP | c.1777G>T (p.Asp593Tyr) c.1618G>T (p.Asp540Tyr) c.1678G>T (p.Asp560Tyr) | |
19 | g.18785033C>G | CA404878842 | COMP | c.1777G>C (p.Asp593His) c.1618G>C (p.Asp540His) c.1678G>C (p.Asp560His) | |
19 | g.18785033C>T | CA404878845 | COMP | c.1777G>A (p.Asp593Asn) c.1618G>A (p.Asp540Asn) c.1678G>A (p.Asp560Asn) | |
19 | g.18785034C>A | CA506052421 | COMP | c.1776G>T (p.Thr592=) c.1617G>T (p.Thr539=) c.1677G>T (p.Thr559=) | |
19 | g.18785034C= | CA2326524925 | COMP | c.1776G= (p.Thr592=) c.1617G= (p.Thr539=) c.1677G= (p.Thr559=) | |
19 | g.18785034C>G | CA506052422 | COMP | c.1776G>C (p.Thr592=) c.1617G>C (p.Thr539=) c.1677G>C (p.Thr559=) | |
19 | g.18785034C>T | CA9316270 | COMP | c.1776G>A (p.Thr592=) c.1617G>A (p.Thr539=) c.1677G>A (p.Thr559=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785035G>A | CA404878846 | COMP | c.1775C>T (p.Thr592Met) c.1616C>T (p.Thr539Met) c.1676C>T (p.Thr559Met) | ClinVar |
19 | g.18785035G>C | CA404878848 | COMP | c.1775C>G (p.Thr592Arg) c.1616C>G (p.Thr539Arg) c.1676C>G (p.Thr559Arg) | ClinVar |
19 | g.18785035G>T | CA404878850 | COMP | c.1775C>A (p.Thr592Lys) c.1616C>A (p.Thr539Lys) c.1676C>A (p.Thr559Lys) | |
19 | g.18785036T>A | CA404878853 | COMP | c.1774A>T (p.Thr592Ser) c.1615A>T (p.Thr539Ser) c.1675A>T (p.Thr559Ser) | |
19 | g.18785036T>C | CA404878859 | COMP | c.1774A>G (p.Thr592Ala) c.1615A>G (p.Thr539Ala) c.1675A>G (p.Thr559Ala) | |
19 | g.18785036T>G | CA404878861 | COMP | c.1774A>C (p.Thr592Pro) c.1615A>C (p.Thr539Pro) c.1675A>C (p.Thr559Pro) | |
19 | g.18785037G>A | CA506052424 | COMP | c.1773C>T (p.Val591=) c.1614C>T (p.Val538=) c.1674C>T (p.Val558=) | |
19 | g.18785037G>C | CA506052426 | COMP | c.1773C>G (p.Val591=) c.1614C>G (p.Val538=) c.1674C>G (p.Val558=) | gnomAD v4 |
19 | g.18785037G>T | CA506052425 | COMP | c.1773C>A (p.Val591=) c.1614C>A (p.Val538=) c.1674C>A (p.Val558=) | |
19 | g.18785038A>C | CA404878864 | COMP | c.1772T>G (p.Val591Gly) c.1613T>G (p.Val538Gly) c.1673T>G (p.Val558Gly) | |
19 | g.18785038A>G | CA404878865 | COMP | c.1772T>C (p.Val591Ala) c.1613T>C (p.Val538Ala) c.1673T>C (p.Val558Ala) | |
19 | g.18785038A>T | CA404878867 | COMP | c.1772T>A (p.Val591Asp) c.1613T>A (p.Val538Asp) c.1673T>A (p.Val558Asp) | |
19 | g.18785039C>A | CA404878870 | COMP | c.1771G>T (p.Val591Phe) c.1612G>T (p.Val538Phe) c.1672G>T (p.Val558Phe) | |
19 | g.18785039C= | CA2326524926 | COMP | c.1771G= (p.Val591=) c.1612G= (p.Val538=) c.1672G= (p.Val558=) | |
19 | g.18785039C>G | CA404878872 | COMP | c.1771G>C (p.Val591Leu) c.1612G>C (p.Val538Leu) c.1672G>C (p.Val558Leu) | |
19 | g.18785039C>T | CA9316271 | COMP | c.1771G>A (p.Val591Ile) c.1612G>A (p.Val538Ile) c.1672G>A (p.Val558Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785040C>A | CA506052428 | COMP | c.1770G>T (p.Thr590=) c.1611G>T (p.Thr537=) c.1671G>T (p.Thr557=) | |
19 | g.18785040C= | CA2326524927 | COMP | c.1770G= (p.Thr590=) c.1611G= (p.Thr537=) c.1671G= (p.Thr557=) | |
19 | g.18785040C>G | CA506052429 | COMP | c.1770G>C (p.Thr590=) c.1611G>C (p.Thr537=) c.1671G>C (p.Thr557=) | dbSNP |
19 | g.18785040C>T | CA9316272 | COMP | c.1770G>A (p.Thr590=) c.1611G>A (p.Thr537=) c.1671G>A (p.Thr557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785041G>A | CA9316273 | COMP | c.1769C>T (p.Thr590Met) c.1610C>T (p.Thr537Met) c.1670C>T (p.Thr557Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785041G>C | CA404878878 | COMP | c.1769C>G (p.Thr590Arg) c.1610C>G (p.Thr537Arg) c.1670C>G (p.Thr557Arg) | |
19 | g.18785041G= | CA2326524928 | COMP | c.1769C= (p.Thr590=) c.1610C= (p.Thr537=) c.1670C= (p.Thr557=) | |
19 | g.18785041G>T | CA404878881 | COMP | c.1769C>A (p.Thr590Lys) c.1610C>A (p.Thr537Lys) c.1670C>A (p.Thr557Lys) | |
19 | g.18785042T>A | CA404878889 | COMP | c.1768A>T (p.Thr590Ser) c.1609A>T (p.Thr537Ser) c.1669A>T (p.Thr557Ser) | gnomAD v4 |
19 | g.18785042T>C | CA404878892 | COMP | c.1768A>G (p.Thr590Ala) c.1609A>G (p.Thr537Ala) c.1669A>G (p.Thr557Ala) | gnomAD v4 |
19 | g.18785042T>G | CA404878895 | COMP | c.1768A>C (p.Thr590Pro) c.1609A>C (p.Thr537Pro) c.1669A>C (p.Thr557Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785042T= | CA2326524929 | COMP | c.1768A= (p.Thr590=) c.1609A= (p.Thr537=) c.1669A= (p.Thr557=) | |
19 | g.18785043G>A | CA506052431 | COMP | c.1767C>T (p.Asn589=) c.1608C>T (p.Asn536=) c.1668C>T (p.Asn556=) | gnomAD v4 |
19 | g.18785043G>C | CA404878905 | COMP | c.1767C>G (p.Asn589Lys) c.1608C>G (p.Asn536Lys) c.1668C>G (p.Asn556Lys) | |
19 | g.18785043G= | CA2326524930 | COMP | c.1767C= (p.Asn589=) c.1608C= (p.Asn536=) c.1668C= (p.Asn556=) | |
19 | g.18785043G>T | CA306253686 | COMP | c.1767C>A (p.Asn589Lys) c.1608C>A (p.Asn536Lys) c.1668C>A (p.Asn556Lys) | dbSNP gnomAD v4 |
19 | g.18785044T>A | CA404878907 | COMP | c.1766A>T (p.Asn589Ile) c.1607A>T (p.Asn536Ile) c.1667A>T (p.Asn556Ile) | |
19 | g.18785044T>C | CA404878910 | COMP | c.1766A>G (p.Asn589Ser) c.1607A>G (p.Asn536Ser) c.1667A>G (p.Asn556Ser) | |
19 | g.18785044T>G | CA404878912 | COMP | c.1766A>C (p.Asn589Thr) c.1607A>C (p.Asn536Thr) c.1667A>C (p.Asn556Thr) | gnomAD v4 |
19 | g.18785045T>A | CA404878917 | COMP | c.1765A>T (p.Asn589Tyr) c.1606A>T (p.Asn536Tyr) c.1666A>T (p.Asn556Tyr) | |
19 | g.18785045T>C | CA404878922 | COMP | c.1765A>G (p.Asn589Asp) c.1606A>G (p.Asn536Asp) c.1666A>G (p.Asn556Asp) | |
19 | g.18785045T>G | CA404878931 | COMP | c.1765A>C (p.Asn589His) c.1606A>C (p.Asn536His) c.1666A>C (p.Asn556His) | gnomAD v4 |
19 | g.18785046C>A | CA506052437 | COMP | c.1764G>T (p.Val588=) c.1605G>T (p.Val535=) c.1665G>T (p.Val555=) | |
19 | g.18785046C>G | CA506052435 | COMP | c.1764G>C (p.Val588=) c.1605G>C (p.Val535=) c.1665G>C (p.Val555=) | |
19 | g.18785046C>T | CA506052436 | COMP | c.1764G>A (p.Val588=) c.1605G>A (p.Val535=) c.1665G>A (p.Val555=) | |
19 | g.18785047A>C | CA404878945 | COMP | c.1763T>G (p.Val588Gly) c.1604T>G (p.Val535Gly) c.1664T>G (p.Val555Gly) | |
19 | g.18785047A>G | CA404878935 | COMP | c.1763T>C (p.Val588Ala) c.1604T>C (p.Val535Ala) c.1664T>C (p.Val555Ala) | gnomAD v4 |
19 | g.18785047A>T | CA404878942 | COMP | c.1763T>A (p.Val588Glu) c.1604T>A (p.Val535Glu) c.1664T>A (p.Val555Glu) | |
19 | g.18785048C>A | CA404878947 | COMP | c.1762G>T (p.Val588Leu) c.1603G>T (p.Val535Leu) c.1663G>T (p.Val555Leu) | gnomAD v4 |
19 | g.18785048C= | CA2326524931 | COMP | c.1762G= (p.Val588=) c.1603G= (p.Val535=) c.1663G= (p.Val555=) | |
19 | g.18785048C>G | CA404878948 | COMP | c.1762G>C (p.Val588Leu) c.1603G>C (p.Val535Leu) c.1663G>C (p.Val555Leu) | |
19 | g.18785048C>T | CA404878949 | COMP | c.1762G>A (p.Val588Met) c.1603G>A (p.Val535Met) c.1663G>A (p.Val555Met) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785049A>C | CA404878951 | COMP | c.1761T>G (p.His587Gln) c.1602T>G (p.His534Gln) c.1662T>G (p.His554Gln) | |
19 | g.18785049A>G | CA506052439 | COMP | c.1761T>C (p.His587=) c.1602T>C (p.His534=) c.1662T>C (p.His554=) | |
19 | g.18785049A>T | CA404878973 | COMP | c.1761T>A (p.His587Gln) c.1602T>A (p.His534Gln) c.1662T>A (p.His554Gln) | |
19 | g.18785050T>A | CA404878978 | COMP | c.1760A>T (p.His587Leu) c.1601A>T (p.His534Leu) c.1661A>T (p.His554Leu) | ClinVar |
19 | g.18785050T>C | CA343862 | COMP | c.1760A>G (p.His587Arg) c.1601A>G (p.His534Arg) c.1661A>G (p.His554Arg) | ClinVar dbSNP |
19 | g.18785050T>G | CA404878985 | COMP | c.1760A>C (p.His587Pro) c.1601A>C (p.His534Pro) c.1661A>C (p.His554Pro) | |
19 | g.18785050T= | CA2326524932 | COMP | c.1760A= (p.His587=) c.1601A= (p.His534=) c.1661A= (p.His554=) | |
19 | g.18785051G>A | CA404878989 | COMP | c.1759C>T (p.His587Tyr) c.1600C>T (p.His534Tyr) c.1660C>T (p.His554Tyr) | |
19 | g.18785051G>C | CA404878993 | COMP | c.1759C>G (p.His587Asp) c.1600C>G (p.His534Asp) c.1660C>G (p.His554Asp) | |
19 | g.18785051G>T | CA404878996 | COMP | c.1759C>A (p.His587Asn) c.1600C>A (p.His534Asn) c.1660C>A (p.His554Asn) | |
19 | g.18785052G>A | CA506052440 | COMP | c.1758C>T (p.Phe586=) c.1599C>T (p.Phe533=) c.1659C>T (p.Phe553=) | ClinVar |
19 | g.18785052G>C | CA404878998 | COMP | c.1758C>G (p.Phe586Leu) c.1599C>G (p.Phe533Leu) c.1659C>G (p.Phe553Leu) | |
19 | g.18785052G>T | CA404878999 | COMP | c.1758C>A (p.Phe586Leu) c.1599C>A (p.Phe533Leu) c.1659C>A (p.Phe553Leu) | |
19 | g.18785053A>C | CA404879003 | COMP | c.1757T>G (p.Phe586Cys) c.1598T>G (p.Phe533Cys) c.1658T>G (p.Phe553Cys) | |
19 | g.18785053A>G | CA404879005 | COMP | c.1757T>C (p.Phe586Ser) c.1598T>C (p.Phe533Ser) c.1658T>C (p.Phe553Ser) | |
19 | g.18785053A>T | CA404879004 | COMP | c.1757T>A (p.Phe586Tyr) c.1598T>A (p.Phe533Tyr) c.1658T>A (p.Phe553Tyr) | |
19 | g.18785054A>C | CA404879006 | COMP | c.1756T>G (p.Phe586Val) c.1597T>G (p.Phe533Val) c.1657T>G (p.Phe553Val) | |
19 | g.18785054A>G | CA404879009 | COMP | c.1756T>C (p.Phe586Leu) c.1597T>C (p.Phe533Leu) c.1657T>C (p.Phe553Leu) | |
19 | g.18785054A>T | CA404879012 | COMP | c.1756T>A (p.Phe586Ile) c.1597T>A (p.Phe533Ile) c.1657T>A (p.Phe553Ile) | |
19 | g.18785055C>A | CA10587298 | COMP | c.1755G>T (p.Thr585=) c.1596G>T (p.Thr532=) c.1656G>T (p.Thr552=) | ClinVar dbSNP |
19 | g.18785055C= | CA2326524933 | COMP | c.1755G= (p.Thr585=) c.1596G= (p.Thr532=) c.1656G= (p.Thr552=) | |
19 | g.18785055C>G | CA506052443 | COMP | c.1755G>C (p.Thr585=) c.1596G>C (p.Thr532=) c.1656G>C (p.Thr552=) | |
19 | g.18785055C>T | CA9316274 | COMP | c.1755G>A (p.Thr585=) c.1596G>A (p.Thr532=) c.1656G>A (p.Thr552=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785056G>A | CA343861 | COMP | c.1754C>T (p.Thr585Met) c.1595C>T (p.Thr532Met) c.1655C>T (p.Thr552Met) | ClinVar dbSNP |
19 | g.18785056G>C | CA343860 | COMP | c.1754C>G (p.Thr585Arg) c.1595C>G (p.Thr532Arg) c.1655C>G (p.Thr552Arg) | ClinVar dbSNP |
19 | g.18785056G= | CA2326524934 | COMP | c.1754C= (p.Thr585=) c.1595C= (p.Thr532=) c.1655C= (p.Thr552=) | |
19 | g.18785056G>T | CA343858 | COMP | c.1754C>A (p.Thr585Lys) c.1595C>A (p.Thr532Lys) c.1655C>A (p.Thr552Lys) | ClinVar dbSNP |
19 | g.18785057T>A | CA404879045 | COMP | c.1753A>T (p.Thr585Ser) c.1594A>T (p.Thr532Ser) c.1654A>T (p.Thr552Ser) | |
19 | g.18785057T>C | CA404879046 | COMP | c.1753A>G (p.Thr585Ala) c.1594A>G (p.Thr532Ala) c.1654A>G (p.Thr552Ala) | dbSNP gnomAD v4 |
19 | g.18785057T>G | CA404879051 | COMP | c.1753A>C (p.Thr585Pro) c.1594A>C (p.Thr532Pro) c.1654A>C (p.Thr552Pro) | |
19 | g.18785057T= | CA2326524935 | COMP | c.1753A= (p.Thr585=) c.1594A= (p.Thr532=) c.1654A= (p.Thr552=) | |
19 | g.18785058G>A | CA306253730 | COMP | c.1752C>T (p.Gly584=) c.1593C>T (p.Gly531=) c.1653C>T (p.Gly551=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785058G>C | CA506052446 | COMP | c.1752C>G (p.Gly584=) c.1593C>G (p.Gly531=) c.1653C>G (p.Gly551=) | |
19 | g.18785058G= | CA2326524936 | COMP | c.1752C= (p.Gly584=) c.1593C= (p.Gly531=) c.1653C= (p.Gly551=) | |
19 | g.18785058G>T | CA506052447 | COMP | c.1752C>A (p.Gly584=) c.1593C>A (p.Gly531=) c.1653C>A (p.Gly551=) | gnomAD v4 |
19 | g.18785058_18785066delinsGCCCTCGAA | CA2326524937 | COMP | c.1744_1752delinsTTCGAGGGC (p.Phe582=) c.1585_1593delinsTTCGAGGGC (p.Phe529=) c.1645_1653delinsTTCGAGGGC (p.Phe549=) | |
19 | g.18785059C>A | CA404879057 | COMP | c.1751G>T (p.Gly584Val) c.1592G>T (p.Gly531Val) c.1652G>T (p.Gly551Val) | |
19 | g.18785059C>G | CA404879060 | COMP | c.1751G>C (p.Gly584Ala) c.1592G>C (p.Gly531Ala) c.1652G>C (p.Gly551Ala) | |
19 | g.18785059C>T | CA404879070 | COMP | c.1751G>A (p.Gly584Asp) c.1592G>A (p.Gly531Asp) c.1652G>A (p.Gly551Asp) | gnomAD v4 |
19 | g.18785059_18785066del | CA2326524938 | COMP | c.1744_1751del (p.Phe582HisfsTer10) c.1585_1592del (p.Phe529HisfsTer10) c.1645_1652del (p.Phe549HisfsTer10) | dbSNP |
19 | g.18785060C>A | CA404879076 | COMP | c.1750G>T (p.Gly584Cys) c.1591G>T (p.Gly531Cys) c.1651G>T (p.Gly551Cys) | |
19 | g.18785060C>G | CA404879095 | COMP | c.1750G>C (p.Gly584Arg) c.1591G>C (p.Gly531Arg) c.1651G>C (p.Gly551Arg) | gnomAD v4 |
19 | g.18785060C>T | CA404879079 | COMP | c.1750G>A (p.Gly584Ser) c.1591G>A (p.Gly531Ser) c.1651G>A (p.Gly551Ser) | |
19 | g.18785061C>A | CA404879102 | COMP | c.1749G>T (p.Glu583Asp) c.1590G>T (p.Glu530Asp) c.1650G>T (p.Glu550Asp) | |
19 | g.18785061C= | CA2326524939 | COMP | c.1749G= (p.Glu583=) c.1590G= (p.Glu530=) c.1650G= (p.Glu550=) | |
19 | g.18785061C>G | CA404879104 | COMP | c.1749G>C (p.Glu583Asp) c.1590G>C (p.Glu530Asp) c.1650G>C (p.Glu550Asp) | |
19 | g.18785061C>T | CA506052449 | COMP | c.1749G>A (p.Glu583=) c.1590G>A (p.Glu530=) c.1650G>A (p.Glu550=) | dbSNP gnomAD v4 |
19 | g.18785062T>A | CA404879110 | COMP | c.1748A>T (p.Glu583Val) c.1589A>T (p.Glu530Val) c.1649A>T (p.Glu550Val) | |
19 | g.18785062T>C | CA404879116 | COMP | c.1748A>G (p.Glu583Gly) c.1589A>G (p.Glu530Gly) c.1649A>G (p.Glu550Gly) | |
19 | g.18785062T>G | CA404879118 | COMP | c.1748A>C (p.Glu583Ala) c.1589A>C (p.Glu530Ala) c.1649A>C (p.Glu550Ala) | |
19 | g.18785063C>A | CA404879126 | COMP | c.1747G>T (p.Glu583Ter) c.1588G>T (p.Glu530Ter) c.1648G>T (p.Glu550Ter) | |
19 | g.18785063C= | CA2326524940 | COMP | c.1747G= (p.Glu583=) c.1588G= (p.Glu530=) c.1648G= (p.Glu550=) | |
19 | g.18785063C>G | CA306253731 | COMP | c.1747G>C (p.Glu583Gln) c.1588G>C (p.Glu530Gln) c.1648G>C (p.Glu550Gln) | dbSNP gnomAD v4 COSMIC |
19 | g.18785063C>T | CA343856 | COMP | c.1747G>A (p.Glu583Lys) c.1588G>A (p.Glu530Lys) c.1648G>A (p.Glu550Lys) | ClinVar dbSNP |
19 | g.18785064G>A | CA506052453 | COMP | c.1746C>T (p.Phe582=) c.1587C>T (p.Phe529=) c.1647C>T (p.Phe549=) | gnomAD v4 COSMIC |
19 | g.18785064G>C | CA404879141 | COMP | c.1746C>G (p.Phe582Leu) c.1587C>G (p.Phe529Leu) c.1647C>G (p.Phe549Leu) | |
19 | g.18785064G>T | CA404879144 | COMP | c.1746C>A (p.Phe582Leu) c.1587C>A (p.Phe529Leu) c.1647C>A (p.Phe549Leu) | |
19 | g.18785065A>C | CA404879156 | COMP | c.1745T>G (p.Phe582Cys) c.1586T>G (p.Phe529Cys) c.1646T>G (p.Phe549Cys) | |
19 | g.18785065A>G | CA404879153 | COMP | c.1745T>C (p.Phe582Ser) c.1586T>C (p.Phe529Ser) c.1646T>C (p.Phe549Ser) | |
19 | g.18785065A>T | CA404879147 | COMP | c.1745T>A (p.Phe582Tyr) c.1586T>A (p.Phe529Tyr) c.1646T>A (p.Phe549Tyr) | |
19 | g.18785066A>C | CA404879159 | COMP | c.1744T>G (p.Phe582Val) c.1585T>G (p.Phe529Val) c.1645T>G (p.Phe549Val) | |
19 | g.18785066A>G | CA404879160 | COMP | c.1744T>C (p.Phe582Leu) c.1585T>C (p.Phe529Leu) c.1645T>C (p.Phe549Leu) | |
19 | g.18785066A>T | CA404879164 | COMP | c.1744T>A (p.Phe582Ile) c.1585T>A (p.Phe529Ile) c.1645T>A (p.Phe549Ile) | |
19 | g.18785067G>A | CA506052455 | COMP | c.1743C>T (p.Asp581=) c.1584C>T (p.Asp528=) c.1644C>T (p.Asp548=) | |
19 | g.18785067G>C | CA404879169 | COMP | c.1743C>G (p.Asp581Glu) c.1584C>G (p.Asp528Glu) c.1644C>G (p.Asp548Glu) | |
19 | g.18785067G>T | CA404879170 | COMP | c.1743C>A (p.Asp581Glu) c.1584C>A (p.Asp528Glu) c.1644C>A (p.Asp548Glu) | |
19 | g.18785068T>A | CA404879176 | COMP | c.1742A>T (p.Asp581Val) c.1583A>T (p.Asp528Val) c.1643A>T (p.Asp548Val) | |
19 | g.18785068T>C | CA404879173 | COMP | c.1742A>G (p.Asp581Gly) c.1583A>G (p.Asp528Gly) c.1643A>G (p.Asp548Gly) | gnomAD v4 |
19 | g.18785068T>G | CA404879171 | COMP | c.1742A>C (p.Asp581Ala) c.1583A>C (p.Asp528Ala) c.1643A>C (p.Asp548Ala) | |
19 | g.18785069C>A | CA404879177 | COMP | c.1741G>T (p.Asp581Tyr) c.1582G>T (p.Asp528Tyr) c.1642G>T (p.Asp548Tyr) | |
19 | g.18785069C>G | CA404879178 | COMP | c.1741G>C (p.Asp581His) c.1582G>C (p.Asp528His) c.1642G>C (p.Asp548His) | gnomAD v4 |
19 | g.18785069C>T | CA404879179 | COMP | c.1741G>A (p.Asp581Asn) c.1582G>A (p.Asp528Asn) c.1642G>A (p.Asp548Asn) | |
19 | g.18785070C>A | CA506052457 | COMP | c.1740G>T (p.Val580=) c.1581G>T (p.Val527=) c.1641G>T (p.Val547=) | |
19 | g.18785070C= | CA2326524941 | COMP | c.1740G= (p.Val580=) c.1581G= (p.Val527=) c.1641G= (p.Val547=) | |
19 | g.18785070C>G | CA506052458 | COMP | c.1740G>C (p.Val580=) c.1581G>C (p.Val527=) c.1641G>C (p.Val547=) | |
19 | g.18785070C>T | CA506052459 | COMP | c.1740G>A (p.Val580=) c.1581G>A (p.Val527=) c.1641G>A (p.Val547=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785071A>C | CA404879185 | COMP | c.1739T>G (p.Val580Gly) c.1580T>G (p.Val527Gly) c.1640T>G (p.Val547Gly) | |
19 | g.18785071A>G | CA404879192 | COMP | c.1739T>C (p.Val580Ala) c.1580T>C (p.Val527Ala) c.1640T>C (p.Val547Ala) | |
19 | g.18785071A>T | CA404879198 | COMP | c.1739T>A (p.Val580Glu) c.1580T>A (p.Val527Glu) c.1640T>A (p.Val547Glu) | |
19 | g.18785072C>A | CA404879204 | COMP | c.1738G>T (p.Val580Leu) c.1579G>T (p.Val527Leu) c.1639G>T (p.Val547Leu) | gnomAD v4 |
19 | g.18785072C= | CA2326524942 | COMP | c.1738G= (p.Val580=) c.1579G= (p.Val527=) c.1639G= (p.Val547=) | |
19 | g.18785072C>G | CA404879202 | COMP | c.1738G>C (p.Val580Leu) c.1579G>C (p.Val527Leu) c.1639G>C (p.Val547Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.18785072C>T | CA404879203 | COMP | c.1738G>A (p.Val580Met) c.1579G>A (p.Val527Met) c.1639G>A (p.Val547Met) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785073G>A | CA506052493 | COMP | c.1737C>T (p.Gly579=) c.1578C>T (p.Gly526=) c.1638C>T (p.Gly546=) | ClinVar dbSNP gnomAD v4 |
19 | g.18785073G>C | CA506052496 | COMP | c.1737C>G (p.Gly579=) c.1578C>G (p.Gly526=) c.1638C>G (p.Gly546=) | |
19 | g.18785073G= | CA2326524943 | COMP | c.1737C= (p.Gly579=) c.1578C= (p.Gly526=) c.1638C= (p.Gly546=) | |
19 | g.18785073G>T | CA506052495 | COMP | c.1737C>A (p.Gly579=) c.1578C>A (p.Gly526=) c.1638C>A (p.Gly546=) | |
19 | g.18785074C>A | CA404879205 | COMP | c.1736G>T (p.Gly579Val) c.1577G>T (p.Gly526Val) c.1637G>T (p.Gly546Val) | COSMIC |
19 | g.18785074C>G | CA404879210 | COMP | c.1736G>C (p.Gly579Ala) c.1577G>C (p.Gly526Ala) c.1637G>C (p.Gly546Ala) | |
19 | g.18785074C>T | CA404879212 | COMP | c.1736G>A (p.Gly579Asp) c.1577G>A (p.Gly526Asp) c.1637G>A (p.Gly546Asp) | |
19 | g.18785075C>A | CA404879214 | COMP | c.1735G>T (p.Gly579Cys) c.1576G>T (p.Gly526Cys) c.1636G>T (p.Gly546Cys) | |
19 | g.18785075C= | CA2326524944 | COMP | c.1735G= (p.Gly579=) c.1576G= (p.Gly526=) c.1636G= (p.Gly546=) | |
19 | g.18785075C>G | CA404879216 | COMP | c.1735G>C (p.Gly579Arg) c.1576G>C (p.Gly526Arg) c.1636G>C (p.Gly546Arg) | |
19 | g.18785075C>T | CA404879220 | COMP | c.1735G>A (p.Gly579Ser) c.1576G>A (p.Gly526Ser) c.1636G>A (p.Gly546Ser) | dbSNP COSMIC |
19 | g.18785076A= | CA2326524945 | COMP | c.1734T= (p.Asn578=) c.1575T= (p.Asn525=) c.1635T= (p.Asn545=) | |
19 | g.18785076A>C | CA404879227 | COMP | c.1734T>G (p.Asn578Lys) c.1575T>G (p.Asn525Lys) c.1635T>G (p.Asn545Lys) | |
19 | g.18785076A>G | CA9316276 | COMP | c.1734T>C (p.Asn578=) c.1575T>C (p.Asn525=) c.1635T>C (p.Asn545=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785076A>T | CA404879249 | COMP | c.1734T>A (p.Asn578Lys) c.1575T>A (p.Asn525Lys) c.1635T>A (p.Asn545Lys) | |
19 | g.18785077T>A | CA404879256 | COMP | c.1733A>T (p.Asn578Ile) c.1574A>T (p.Asn525Ile) c.1634A>T (p.Asn545Ile) | |
19 | g.18785077T>C | CA404879267 | COMP | c.1733A>G (p.Asn578Ser) c.1574A>G (p.Asn525Ser) c.1634A>G (p.Asn545Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785077T>G | CA404879271 | COMP | c.1733A>C (p.Asn578Thr) c.1574A>C (p.Asn525Thr) c.1634A>C (p.Asn545Thr) | |
19 | g.18785077T= | CA2326524946 | COMP | c.1733A= (p.Asn578=) c.1574A= (p.Asn525=) c.1634A= (p.Asn545=) | |
19 | g.18785078dup | CA9316275 | COMP | c.1733dup (p.Asn578LysfsTer17) c.1574dup (p.Asn525LysfsTer17) c.1634dup (p.Asn545LysfsTer17) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785078T>A | CA404879283 | COMP | c.1732A>T (p.Asn578Tyr) c.1573A>T (p.Asn525Tyr) c.1633A>T (p.Asn545Tyr) | |
19 | g.18785078T>C | CA404879286 | COMP | c.1732A>G (p.Asn578Asp) c.1573A>G (p.Asn525Asp) c.1633A>G (p.Asn545Asp) | |
19 | g.18785078T>G | CA404879284 | COMP | c.1732A>C (p.Asn578His) c.1573A>C (p.Asn525His) c.1633A>C (p.Asn545His) | |
19 | g.18785079G>A | CA9316277 | COMP | c.1731C>T (p.Phe577=) c.1572C>T (p.Phe524=) c.1632C>T (p.Phe544=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785079G>C | CA404879291 | COMP | c.1731C>G (p.Phe577Leu) c.1572C>G (p.Phe524Leu) c.1632C>G (p.Phe544Leu) | |
19 | g.18785079G= | CA2326524947 | COMP | c.1731C= (p.Phe577=) c.1572C= (p.Phe524=) c.1632C= (p.Phe544=) | |
19 | g.18785079G>T | CA404879301 | COMP | c.1731C>A (p.Phe577Leu) c.1572C>A (p.Phe524Leu) c.1632C>A (p.Phe544Leu) | |
19 | g.18785080A>C | CA404879309 | COMP | c.1730T>G (p.Phe577Cys) c.1571T>G (p.Phe524Cys) c.1631T>G (p.Phe544Cys) | |
19 | g.18785080A>G | CA404879314 | COMP | c.1730T>C (p.Phe577Ser) c.1571T>C (p.Phe524Ser) c.1631T>C (p.Phe544Ser) | |
19 | g.18785080A>T | CA404879317 | COMP | c.1730T>A (p.Phe577Tyr) c.1571T>A (p.Phe524Tyr) c.1631T>A (p.Phe544Tyr) | |
19 | g.18785081A>C | CA404879318 | COMP | c.1729T>G (p.Phe577Val) c.1570T>G (p.Phe524Val) c.1630T>G (p.Phe544Val) | |
19 | g.18785081A>G | CA404879320 | COMP | c.1729T>C (p.Phe577Leu) c.1570T>C (p.Phe524Leu) c.1630T>C (p.Phe544Leu) | |
19 | g.18785081A>T | CA404879323 | COMP | c.1729T>A (p.Phe577Ile) c.1570T>A (p.Phe524Ile) c.1630T>A (p.Phe544Ile) | |
19 | g.18785082G>A | CA506052503 | COMP | c.1728C>T (p.Ala576=) c.1569C>T (p.Ala523=) c.1629C>T (p.Ala543=) | |
19 | g.18785082G>C | CA506052502 | COMP | c.1728C>G (p.Ala576=) c.1569C>G (p.Ala523=) c.1629C>G (p.Ala543=) | |
19 | g.18785082G>T | CA506052501 | COMP | c.1728C>A (p.Ala576=) c.1569C>A (p.Ala523=) c.1629C>A (p.Ala543=) | |
19 | g.18785083G>A | CA404879334 | COMP | c.1727C>T (p.Ala576Val) c.1568C>T (p.Ala523Val) c.1628C>T (p.Ala543Val) | |
19 | g.18785083G>C | CA404879336 | COMP | c.1727C>G (p.Ala576Gly) c.1568C>G (p.Ala523Gly) c.1628C>G (p.Ala543Gly) | |
19 | g.18785083G>T | CA404879340 | COMP | c.1727C>A (p.Ala576Asp) c.1568C>A (p.Ala523Asp) c.1628C>A (p.Ala543Asp) | gnomAD v4 |
19 | g.18785084del | CA2838472914 | COMP | c.1726del (p.Ala576ProfsTer13) c.1567del (p.Ala523ProfsTer13) c.1627del (p.Ala543ProfsTer13) | |
19 | g.18785084C>A | CA404879351 | COMP | c.1726G>T (p.Ala576Ser) c.1567G>T (p.Ala523Ser) c.1627G>T (p.Ala543Ser) | |
19 | g.18785084C>G | CA404879349 | COMP | c.1726G>C (p.Ala576Pro) c.1567G>C (p.Ala523Pro) c.1627G>C (p.Ala543Pro) | |
19 | g.18785084C>T | CA404879345 | COMP | c.1726G>A (p.Ala576Thr) c.1567G>A (p.Ala523Thr) c.1627G>A (p.Ala543Thr) | gnomAD v4 |
19 | g.18785085A= | CA2326524948 | COMP | c.1725T= (p.Thr575=) c.1566T= (p.Thr522=) c.1626T= (p.Thr542=) | |
19 | g.18785085A>C | CA306253742 | COMP | c.1725T>G (p.Thr575=) c.1566T>G (p.Thr522=) c.1626T>G (p.Thr542=) | dbSNP |
19 | g.18785085A>G | CA506052506 | COMP | c.1725T>C (p.Thr575=) c.1566T>C (p.Thr522=) c.1626T>C (p.Thr542=) | |
19 | g.18785085A>T | CA506052507 | COMP | c.1725T>A (p.Thr575=) c.1566T>A (p.Thr522=) c.1626T>A (p.Thr542=) | |
19 | g.18785086G>A | CA404879357 | COMP | c.1724C>T (p.Thr575Ile) c.1565C>T (p.Thr522Ile) c.1625C>T (p.Thr542Ile) | |
19 | g.18785086G>C | CA404879358 | COMP | c.1724C>G (p.Thr575Ser) c.1565C>G (p.Thr522Ser) c.1625C>G (p.Thr542Ser) | |
19 | g.18785086G>T | CA404879359 | COMP | c.1724C>A (p.Thr575Asn) c.1565C>A (p.Thr522Asn) c.1625C>A (p.Thr542Asn) | |
19 | g.18785087T>A | CA404879360 | COMP | c.1723A>T (p.Thr575Ser) c.1564A>T (p.Thr522Ser) c.1624A>T (p.Thr542Ser) | ClinVar gnomAD v4 |
19 | g.18785087T>C | CA404879362 | COMP | c.1723A>G (p.Thr575Ala) c.1564A>G (p.Thr522Ala) c.1624A>G (p.Thr542Ala) | dbSNP |
19 | g.18785087T>G | CA404879389 | COMP | c.1723A>C (p.Thr575Pro) c.1564A>C (p.Thr522Pro) c.1624A>C (p.Thr542Pro) | |
19 | g.18785087T= | CA2326524949 | COMP | c.1723A= (p.Thr575=) c.1564A= (p.Thr522=) c.1624A= (p.Thr542=) | |
19 | g.18785088G>A | CA506052508 | COMP | c.1722C>T (p.Tyr574=) c.1563C>T (p.Tyr521=) c.1623C>T (p.Tyr541=) | |
19 | g.18785088G>C | CA404879394 | COMP | c.1722C>G (p.Tyr574Ter) c.1563C>G (p.Tyr521Ter) c.1623C>G (p.Tyr541Ter) | |
19 | g.18785088G>T | CA404879399 | COMP | c.1722C>A (p.Tyr574Ter) c.1563C>A (p.Tyr521Ter) c.1623C>A (p.Tyr541Ter) | |
19 | g.18785089T>A | CA404879404 | COMP | c.1721A>T (p.Tyr574Phe) c.1562A>T (p.Tyr521Phe) c.1622A>T (p.Tyr541Phe) | |
19 | g.18785089T>C | CA404879406 | COMP | c.1721A>G (p.Tyr574Cys) c.1562A>G (p.Tyr521Cys) c.1622A>G (p.Tyr541Cys) | |
19 | g.18785089T>G | CA404879412 | COMP | c.1721A>C (p.Tyr574Ser) c.1562A>C (p.Tyr521Ser) c.1622A>C (p.Tyr541Ser) | |
19 | g.18785090A>C | CA404879425 | COMP | c.1720T>G (p.Tyr574Asp) c.1561T>G (p.Tyr521Asp) c.1621T>G (p.Tyr541Asp) | |
19 | g.18785090A>G | CA404879422 | COMP | c.1720T>C (p.Tyr574His) c.1561T>C (p.Tyr521His) c.1621T>C (p.Tyr541His) | |
19 | g.18785090A>T | CA404879417 | COMP | c.1720T>A (p.Tyr574Asn) c.1561T>A (p.Tyr521Asn) c.1621T>A (p.Tyr541Asn) | |
19 | g.18785091A>C | CA506052509 | COMP | c.1719T>G (p.Gly573=) c.1560T>G (p.Gly520=) c.1620T>G (p.Gly540=) | |
19 | g.18785091A>G | CA506052510 | COMP | c.1719T>C (p.Gly573=) c.1560T>C (p.Gly520=) c.1620T>C (p.Gly540=) | |
19 | g.18785091A>T | CA506052511 | COMP | c.1719T>A (p.Gly573=) c.1560T>A (p.Gly520=) c.1620T>A (p.Gly540=) | |
19 | g.18785092C>A | CA404879432 | COMP | c.1718G>T (p.Gly573Val) c.1559G>T (p.Gly520Val) c.1619G>T (p.Gly540Val) | |
19 | g.18785092C>G | CA404879450 | COMP | c.1718G>C (p.Gly573Ala) c.1559G>C (p.Gly520Ala) c.1619G>C (p.Gly540Ala) | |
19 | g.18785092C>T | CA404879439 | COMP | c.1718G>A (p.Gly573Asp) c.1559G>A (p.Gly520Asp) c.1619G>A (p.Gly540Asp) | gnomAD v4 |
19 | g.18785093C>A | CA404879454 | COMP | c.1718-1G>T (n.1718-1G>T) c.1559-1G>T (n.1559-1G>T) c.1619-1G>T (n.1619-1G>T) | |
19 | g.18785093C>G | CA404879457 | COMP | c.1718-1G>C (n.1718-1G>C) c.1559-1G>C (n.1559-1G>C) c.1619-1G>C (n.1619-1G>C) | |
19 | g.18785093C>T | CA404879456 | COMP | c.1718-1G>A (n.1718-1G>A) c.1559-1G>A (n.1559-1G>A) c.1619-1G>A (n.1619-1G>A) | |
19 | g.18785094T>A | CA404879459 | COMP | c.1718-2A>T (n.1718-2A>T) c.1559-2A>T (n.1559-2A>T) c.1619-2A>T (n.1619-2A>T) | |
19 | g.18785094T>C | CA404879469 | COMP | c.1718-2A>G (n.1718-2A>G) c.1559-2A>G (n.1559-2A>G) c.1619-2A>G (n.1619-2A>G) | |
19 | g.18785094T>G | CA404879464 | COMP | c.1718-2A>C (n.1718-2A>C) c.1559-2A>C (n.1559-2A>C) c.1619-2A>C (n.1619-2A>C) | |
19 | g.18785095A= | CA2326524952 | COMP | c.1718-3T= (n.1718-3T=) c.1559-3T= (n.1559-3T=) c.1619-3T= (n.1619-3T=) | |
19 | g.18785095A>C | CA2326524950 | COMP | c.1718-3T>G (n.1718-3T>G) c.1559-3T>G (n.1559-3T>G) c.1619-3T>G (n.1619-3T>G) | dbSNP |
19 | g.18785095A>G | CA2583621580 | COMP | c.1718-3T>C (n.1718-3T>C) c.1559-3T>C (n.1559-3T>C) c.1619-3T>C (n.1619-3T>C) | gnomAD v4 |
19 | g.18785095A>T | CA2842543389 | COMP | c.1718-3T>A (n.1718-3T>A) c.1559-3T>A (n.1559-3T>A) c.1619-3T>A (n.1619-3T>A) | |
19 | g.18785095_18785096delinsAG | CA2326524951 | COMP | c.1718-4_1718-3delinsCT (n.1718-4_1718-3delinsCT) c.1559-4_1559-3delinsCT (n.1559-4_1559-3delinsCT) c.1619-4_1619-3delinsCT (n.1619-4_1619-3delinsCT) | |
19 | g.18785096G>A | CA9316278 | COMP | c.1718-4C>T (n.1718-4C>T) c.1559-4C>T (n.1559-4C>T) c.1619-4C>T (n.1619-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785096G= | CA2326524954 | COMP | c.1718-4C= (n.1718-4C=) c.1559-4C= (n.1559-4C=) c.1619-4C= (n.1619-4C=) | |
19 | g.18785096G>T | CA2842543390 | COMP | c.1718-4C>A (n.1718-4C>A) c.1559-4C>A (n.1559-4C>A) c.1619-4C>A (n.1619-4C>A) | |
19 | g.18785098del | CA2326524953 | COMP | c.1718-4del (n.1718-4del) c.1559-4del (n.1559-4del) c.1619-4del (n.1619-4del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785097G>A | CA2583621581 | COMP | c.1718-5C>T (n.1718-5C>T) c.1559-5C>T (n.1559-5C>T) c.1619-5C>T (n.1619-5C>T) | gnomAD v4 |
19 | g.18785098G>A | CA9316279 | COMP | c.1718-6C>T (n.1718-6C>T) c.1559-6C>T (n.1559-6C>T) c.1619-6C>T (n.1619-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785098G= | CA2326524955 | COMP | c.1718-6C= (n.1718-6C=) c.1559-6C= (n.1559-6C=) c.1619-6C= (n.1619-6C=) | |
19 | g.18785098G>T | CA2838268688 | COMP | c.1718-6C>A (n.1718-6C>A) c.1559-6C>A (n.1559-6C>A) c.1619-6C>A (n.1619-6C>A) | |
19 | g.18785099A= | CA2326524956 | COMP | c.1718-7T= (n.1718-7T=) c.1559-7T= (n.1559-7T=) c.1619-7T= (n.1619-7T=) | |
19 | g.18785099A>G | CA306253766 | COMP | c.1718-7T>C (n.1718-7T>C) c.1559-7T>C (n.1559-7T>C) c.1619-7T>C (n.1619-7T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785099A>T | CA2576725714 | COMP | c.1718-7T>A (n.1718-7T>A) c.1559-7T>A (n.1559-7T>A) c.1619-7T>A (n.1619-7T>A) | |
19 | g.18785100T>A | CA2838472915 | COMP | c.1718-8A>T (n.1718-8A>T) c.1559-8A>T (n.1559-8A>T) c.1619-8A>T (n.1619-8A>T) | |
19 | g.18785101G>T | CA2842543391 | COMP | c.1718-9C>A (n.1718-9C>A) c.1559-9C>A (n.1559-9C>A) c.1619-9C>A (n.1619-9C>A) | |
19 | g.18785102G>A | CA9316280 | COMP | c.1718-10C>T (n.1718-10C>T) c.1559-10C>T (n.1559-10C>T) c.1619-10C>T (n.1619-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785102G>C | CA9316281 | COMP | c.1718-10C>G (n.1718-10C>G) c.1559-10C>G (n.1559-10C>G) c.1619-10C>G (n.1619-10C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785102G= | CA2326524957 | COMP | c.1718-10C= (n.1718-10C=) c.1559-10C= (n.1559-10C=) c.1619-10C= (n.1619-10C=) | |
19 | g.18785102G>T | CA2838268683 | COMP | c.1718-10C>A (n.1718-10C>A) c.1559-10C>A (n.1559-10C>A) c.1619-10C>A (n.1619-10C>A) | |
19 | g.18785103A>T | CA2813846990 | COMP | c.1718-11T>A (n.1718-11T>A) c.1559-11T>A (n.1559-11T>A) c.1619-11T>A (n.1619-11T>A) | |
19 | g.18785104_18785105del | CA2576725715 | COMP | c.1718-12_1718-11del (n.1718-12_1718-11del) c.1559-12_1559-11del (n.1559-12_1559-11del) c.1619-12_1619-11del (n.1619-12_1619-11del) | gnomAD v4 |
19 | g.18785105A= | CA2326524958 | COMP | c.1718-13T= (n.1718-13T=) c.1559-13T= (n.1559-13T=) c.1619-13T= (n.1619-13T=) | |
19 | g.18785105A>G | CA632375509 | COMP | c.1718-13T>C (n.1718-13T>C) c.1559-13T>C (n.1559-13T>C) c.1619-13T>C (n.1619-13T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785109_18785110del | CA2583621582 | COMP | c.1718-14_1718-13del (n.1718-14_1718-13del) c.1559-14_1559-13del (n.1559-14_1559-13del) c.1619-14_1619-13del (n.1619-14_1619-13del) | gnomAD v4 |
19 | g.18785106G>A | CA2326524960 | COMP | c.1718-14C>T (n.1718-14C>T) c.1559-14C>T (n.1559-14C>T) c.1619-14C>T (n.1619-14C>T) | dbSNP |
19 | g.18785106G= | CA2326524959 | COMP | c.1718-14C= (n.1718-14C=) c.1559-14C= (n.1559-14C=) c.1619-14C= (n.1619-14C=) | |
19 | g.18785107A= | CA2326524961 | COMP | c.1718-15T= (n.1718-15T=) c.1559-15T= (n.1559-15T=) c.1619-15T= (n.1619-15T=) | |
19 | g.18785107A>G | CA9316282 | COMP | c.1718-15T>C (n.1718-15T>C) c.1559-15T>C (n.1559-15T>C) c.1619-15T>C (n.1619-15T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785108G>C | CA783972132 | COMP | c.1718-16C>G (n.1718-16C>G) c.1559-16C>G (n.1559-16C>G) c.1619-16C>G (n.1619-16C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785108G= | CA2326524962 | COMP | c.1718-16C= (n.1718-16C=) c.1559-16C= (n.1559-16C=) c.1619-16C= (n.1619-16C=) | |
19 | g.18785108G>T | CA2583621583 | COMP | c.1718-16C>A (n.1718-16C>A) c.1559-16C>A (n.1559-16C>A) c.1619-16C>A (n.1619-16C>A) | gnomAD v4 |
19 | g.18785110G>A | CA783972134 | COMP | c.1718-18C>T (n.1718-18C>T) c.1559-18C>T (n.1559-18C>T) c.1619-18C>T (n.1619-18C>T) | dbSNP |
19 | g.18785110G>C | CA2576725716 | COMP | c.1718-18C>G (n.1718-18C>G) c.1559-18C>G (n.1559-18C>G) c.1619-18C>G (n.1619-18C>G) | ClinVar |
19 | g.18785110G= | CA2326524963 | COMP | c.1718-18C= (n.1718-18C=) c.1559-18C= (n.1559-18C=) c.1619-18C= (n.1619-18C=) | |
19 | g.18785111del | CA2576725717 | COMP | c.1718-19del (n.1718-19del) c.1559-19del (n.1559-19del) c.1619-19del (n.1619-19del) | |
19 | g.18785112A= | CA2326524964 | COMP | c.1718-20T= (n.1718-20T=) c.1559-20T= (n.1559-20T=) c.1619-20T= (n.1619-20T=) | |
19 | g.18785112A>C | CA9316283 | COMP | c.1718-20T>G (n.1718-20T>G) c.1559-20T>G (n.1559-20T>G) c.1619-20T>G (n.1619-20T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785112A>G | CA2583621584 | COMP | c.1718-20T>C (n.1718-20T>C) c.1559-20T>C (n.1559-20T>C) c.1619-20T>C (n.1619-20T>C) | gnomAD v4 |
19 | g.18785113G>A | CA632375512 | COMP | c.1718-21C>T (n.1718-21C>T) c.1559-21C>T (n.1559-21C>T) c.1619-21C>T (n.1619-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785113G= | CA2326524965 | COMP | c.1718-21C= (n.1718-21C=) c.1559-21C= (n.1559-21C=) c.1619-21C= (n.1619-21C=) | |
19 | g.18785115G>A | CA2583621585 | COMP | c.1718-23C>T (n.1718-23C>T) c.1559-23C>T (n.1559-23C>T) c.1619-23C>T (n.1619-23C>T) | gnomAD v4 |
19 | g.18785116G>A | CA2583621586 | COMP | c.1718-24C>T (n.1718-24C>T) c.1559-24C>T (n.1559-24C>T) c.1619-24C>T (n.1619-24C>T) | gnomAD v4 |
19 | g.18785117C= | CA2326524967 | COMP | c.1718-25G= (n.1718-25G=) c.1559-25G= (n.1559-25G=) c.1619-25G= (n.1619-25G=) | |
19 | g.18785117C>T | CA2326524966 | COMP | c.1718-25G>A (n.1718-25G>A) c.1559-25G>A (n.1559-25G>A) c.1619-25G>A (n.1619-25G>A) | dbSNP gnomAD v4 |
19 | g.18785118C>A | CA2576725718 | COMP | c.1718-26G>T (n.1718-26G>T) c.1559-26G>T (n.1559-26G>T) c.1619-26G>T (n.1619-26G>T) | |
19 | g.18785119T>C | CA9316284 | COMP | c.1718-27A>G (n.1718-27A>G) c.1559-27A>G (n.1559-27A>G) c.1619-27A>G (n.1619-27A>G) | dbSNP ExAC gnomAD v2 |
19 | g.18785119T= | CA2326524968 | COMP | c.1718-27A= (n.1718-27A=) c.1559-27A= (n.1559-27A=) c.1619-27A= (n.1619-27A=) | |
19 | g.18785121del | CA2576725719 | COMP | c.1718-27del (n.1718-27del) c.1559-27del (n.1559-27del) c.1619-27del (n.1619-27del) | |
19 | g.18785122C>T | CA2583621587 | COMP | c.1718-30G>A (n.1718-30G>A) c.1559-30G>A (n.1559-30G>A) c.1619-30G>A (n.1619-30G>A) | gnomAD v4 |
19 | g.18785123C= | CA2326524969 | COMP | c.1718-31G= (n.1718-31G=) c.1559-31G= (n.1559-31G=) c.1619-31G= (n.1619-31G=) | |
19 | g.18785123C>T | CA306253795 | COMP | c.1718-31G>A (n.1718-31G>A) c.1559-31G>A (n.1559-31G>A) c.1619-31G>A (n.1619-31G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785124G>A | CA2583621588 | COMP | c.1718-32C>T (n.1718-32C>T) c.1559-32C>T (n.1559-32C>T) c.1619-32C>T (n.1619-32C>T) | gnomAD v4 |
19 | g.18785124G>T | CA2583621589 | COMP | c.1718-32C>A (n.1718-32C>A) c.1559-32C>A (n.1559-32C>A) c.1619-32C>A (n.1619-32C>A) | gnomAD v4 |