Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.39589785G= | CA2171400121 | FSIP1,THBS1 | c.1927-20G= (n.1927-20G=) c.771-1211C= n.393-20G= c.1753-20G= (n.1753-20G=) n.2102-20G= | |
15 | g.39589785G>T | CA7472106 | FSIP1,THBS1 | c.1927-20G>T (n.1927-20G>T) c.771-1211C>A n.393-20G>T c.1753-20G>T (n.1753-20G>T) n.2102-20G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589789C>A | CA2627743841 | FSIP1,THBS1 | c.1927-16C>A (n.1927-16C>A) c.771-1215G>T n.393-16C>A c.1753-16C>A (n.1753-16C>A) n.2102-16C>A | gnomAD v4 |
15 | g.39589789C>G | CA2730719418 | FSIP1,THBS1 | c.1927-16C>G (n.1927-16C>G) c.771-1215G>C n.393-16C>G c.1753-16C>G (n.1753-16C>G) n.2102-16C>G | dbSNP |
15 | g.39589790A>C | CA2627743842 | FSIP1,THBS1 | c.1927-15A>C (n.1927-15A>C) c.771-1216T>G n.393-15A>C c.1753-15A>C (n.1753-15A>C) n.2102-15A>C | gnomAD v4 |
15 | g.39589790A>G | CA2627743843 | FSIP1,THBS1 | c.1927-15A>G (n.1927-15A>G) c.771-1216T>C n.393-15A>G c.1753-15A>G (n.1753-15A>G) n.2102-15A>G | gnomAD v4 |
15 | g.39589791T>C | CA617556056 | FSIP1,THBS1 | c.1927-14T>C (n.1927-14T>C) c.771-1217A>G n.393-14T>C c.1753-14T>C (n.1753-14T>C) n.2102-14T>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.39589791T>G | CA2627743845 | FSIP1,THBS1 | c.1927-14T>G (n.1927-14T>G) c.771-1217A>C n.393-14T>G c.1753-14T>G (n.1753-14T>G) n.2102-14T>G | gnomAD v4 |
15 | g.39589791T= | CA2171400122 | FSIP1,THBS1 | c.1927-14T= (n.1927-14T=) c.771-1217A= n.393-14T= c.1753-14T= (n.1753-14T=) n.2102-14T= | |
15 | g.39589792G= | CA2171400123 | FSIP1,THBS1 | c.1927-13G= (n.1927-13G=) c.771-1218C= n.393-13G= c.1753-13G= (n.1753-13G=) n.2102-13G= | |
15 | g.39589793G>A | CA7472107 | FSIP1,THBS1 | c.1927-12G>A (n.1927-12G>A) c.771-1219C>T n.393-12G>A c.1753-12G>A (n.1753-12G>A) n.2102-12G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589793G= | CA2171400125 | FSIP1,THBS1 | c.1927-12G= (n.1927-12G=) c.771-1219C= n.393-12G= c.1753-12G= (n.1753-12G=) n.2102-12G= | |
15 | g.39589793_39589796dup | CA2171400124 | FSIP1,THBS1 | c.1927-12_1927-9dup (n.1927-12_1927-9dup) c.771-1222_771-1219dup n.393-12_393-9dup c.1753-12_1753-9dup (n.1753-12_1753-9dup) n.2102-12_2102-9dup | dbSNP |
15 | g.39589795G>A | CA7472109 | FSIP1,THBS1 | c.1927-10G>A (n.1927-10G>A) c.771-1221C>T n.393-10G>A c.1753-10G>A (n.1753-10G>A) n.2102-10G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.39589795G= | CA2171400126 | FSIP1,THBS1 | c.1927-10G= (n.1927-10G=) c.771-1221C= n.393-10G= c.1753-10G= (n.1753-10G=) n.2102-10G= | |
15 | g.39589795G>T | CA7472108 | FSIP1,THBS1 | c.1927-10G>T (n.1927-10G>T) c.771-1221C>A n.393-10G>T c.1753-10G>T (n.1753-10G>T) n.2102-10G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589797A>C | CA2627743847 | FSIP1,THBS1 | c.1927-8A>C (n.1927-8A>C) c.771-1223T>G n.393-8A>C c.1753-8A>C (n.1753-8A>C) n.2102-8A>C | gnomAD v4 |
15 | g.39589798C>A | CA2627743849 | FSIP1,THBS1 | c.1927-7C>A (n.1927-7C>A) c.771-1224G>T n.393-7C>A c.1753-7C>A (n.1753-7C>A) n.2102-7C>A | gnomAD v4 |
15 | g.39589798C= | CA2171400127 | FSIP1,THBS1 | c.1927-7C= (n.1927-7C=) c.771-1224G= n.393-7C= c.1753-7C= (n.1753-7C=) n.2102-7C= | |
15 | g.39589798C>T | CA2171400128 | FSIP1,THBS1 | c.1927-7C>T (n.1927-7C>T) c.771-1224G>A n.393-7C>T c.1753-7C>T (n.1753-7C>T) n.2102-7C>T | dbSNP gnomAD v4 |
15 | g.39589799C>A | CA7472110 | FSIP1,THBS1 | c.1927-6C>A (n.1927-6C>A) c.771-1225G>T n.393-6C>A c.1753-6C>A (n.1753-6C>A) n.2102-6C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.39589799C= | CA2171400129 | FSIP1,THBS1 | c.1927-6C= (n.1927-6C=) c.771-1225G= n.393-6C= c.1753-6C= (n.1753-6C=) n.2102-6C= | |
15 | g.39589799C>T | CA2627743850 | FSIP1,THBS1 | c.1927-6C>T (n.1927-6C>T) c.771-1225G>A n.393-6C>T c.1753-6C>T (n.1753-6C>T) n.2102-6C>T | gnomAD v4 |
15 | g.39589801T>A | CA2171400131 | FSIP1,THBS1 | c.1927-4T>A (n.1927-4T>A) c.771-1227A>T n.393-4T>A c.1753-4T>A (n.1753-4T>A) n.2102-4T>A | dbSNP |
15 | g.39589801T= | CA2171400130 | FSIP1,THBS1 | c.1927-4T= (n.1927-4T=) c.771-1227A= n.393-4T= c.1753-4T= (n.1753-4T=) n.2102-4T= | |
15 | g.39589802C>A | CA2627743851 | FSIP1,THBS1 | c.1927-3C>A (n.1927-3C>A) c.771-1228G>T n.393-3C>A c.1753-3C>A (n.1753-3C>A) n.2102-3C>A | gnomAD v4 |
15 | g.39589802C= | CA2171400132 | FSIP1,THBS1 | c.1927-3C= (n.1927-3C=) c.771-1228G= n.393-3C= c.1753-3C= (n.1753-3C=) n.2102-3C= | |
15 | g.39589802C>G | CA7472111 | FSIP1,THBS1 | c.1927-3C>G (n.1927-3C>G) c.771-1228G>C n.393-3C>G c.1753-3C>G (n.1753-3C>G) n.2102-3C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.39589802C>T | CA645574798 | FSIP1,THBS1 | c.1927-3C>T (n.1927-3C>T) c.771-1228G>A n.393-3C>T c.1753-3C>T (n.1753-3C>T) n.2102-3C>T | COSMIC |
15 | g.39589803del | CA968901184 | FSIP1,THBS1 | c.1927-2del (n.1927-2del) c.771-1229del n.393-2del c.1753-2del (n.1753-2del) n.2102-2del | gnomAD v3 gnomAD v4 |
15 | g.39589803A>C | CA391670038 | FSIP1,THBS1 | c.1927-2A>C (n.1927-2A>C) c.771-1229T>G n.393-2A>C c.1753-2A>C (n.1753-2A>C) n.2102-2A>C | |
15 | g.39589803A>G | CA391670039 | FSIP1,THBS1 | c.1927-2A>G (n.1927-2A>G) c.771-1229T>C n.393-2A>G c.1753-2A>G (n.1753-2A>G) n.2102-2A>G | |
15 | g.39589803A>T | CA391670040 | FSIP1,THBS1 | c.1927-2A>T (n.1927-2A>T) c.771-1229T>A n.393-2A>T c.1753-2A>T (n.1753-2A>T) n.2102-2A>T | |
15 | g.39589804G>A | CA391670041 | FSIP1,THBS1 | c.1927-1G>A (n.1927-1G>A) c.771-1230C>T n.393-1G>A c.1753-1G>A (n.1753-1G>A) n.2102-1G>A | gnomAD v4 |
15 | g.39589804G>C | CA391670042 | FSIP1,THBS1 | c.1927-1G>C (n.1927-1G>C) c.771-1230C>G n.393-1G>C c.1753-1G>C (n.1753-1G>C) n.2102-1G>C | |
15 | g.39589804G>T | CA391670043 | FSIP1,THBS1 | c.1927-1G>T (n.1927-1G>T) c.771-1230C>A n.393-1G>T c.1753-1G>T (n.1753-1G>T) n.2102-1G>T | |
15 | g.39589805G>A | CA268725139 | FSIP1,THBS1 | c.1927G>A (p.Val643Met) c.771-1231C>T n.393G>A c.1753G>A (p.Val585Met) n.2102G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589805G>C | CA391670044 | FSIP1,THBS1 | c.1927G>C (p.Val643Leu) c.771-1231C>G n.393G>C c.1753G>C (p.Val585Leu) n.2102G>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.39589805G= | CA2171400133 | FSIP1,THBS1 | c.1927G= (p.Val643=) c.771-1231C= n.393G= c.1753G= (p.Val585=) n.2102G= | |
15 | g.39589805G>T | CA391670045 | FSIP1,THBS1 | c.1927G>T (p.Val643Leu) c.771-1231C>A n.393G>T c.1753G>T (p.Val585Leu) n.2102G>T | |
15 | g.39589806T>A | CA391670048 | FSIP1,THBS1 | c.1928T>A (p.Val643Glu) c.771-1232A>T n.394T>A c.1754T>A (p.Val585Glu) n.2103T>A | |
15 | g.39589806T>C | CA391670046 | FSIP1,THBS1 | c.1928T>C (p.Val643Ala) c.771-1232A>G n.394T>C c.1754T>C (p.Val585Ala) n.2103T>C | |
15 | g.39589806T>G | CA391670047 | FSIP1,THBS1 | c.1928T>G (p.Val643Gly) c.771-1232A>C n.394T>G c.1754T>G (p.Val585Gly) n.2103T>G | |
15 | g.39589807G>A | CA7472112 | FSIP1,THBS1 | c.1929G>A (p.Val643=) c.771-1233C>T n.395G>A c.1755G>A (p.Val585=) n.2104G>A | dbSNP ExAC gnomAD v2 COSMIC |
15 | g.39589807G>C | CA489672894 | FSIP1,THBS1 | c.1929G>C (p.Val643=) c.771-1233C>G n.395G>C c.1755G>C (p.Val585=) n.2104G>C | |
15 | g.39589807G= | CA2171400134 | FSIP1,THBS1 | c.1929G= (p.Val643=) c.771-1233C= n.395G= c.1755G= (p.Val585=) n.2104G= | |
15 | g.39589807G>T | CA489672891 | FSIP1,THBS1 | c.1929G>T (p.Val643=) c.771-1233C>A n.395G>T c.1755G>T (p.Val585=) n.2104G>T | |
15 | g.39589808T>A | CA391670050 | FSIP1,THBS1 | c.1930T>A (p.Cys644Ser) c.771-1234A>T n.396T>A c.1756T>A (p.Cys586Ser) n.2105T>A | |
15 | g.39589808T>C | CA391670049 | FSIP1,THBS1 | c.1930T>C (p.Cys644Arg) c.771-1234A>G n.396T>C c.1756T>C (p.Cys586Arg) n.2105T>C | |
15 | g.39589808T>G | CA391670051 | FSIP1,THBS1 | c.1930T>G (p.Cys644Gly) c.771-1234A>C n.396T>G c.1756T>G (p.Cys586Gly) n.2105T>G | |
15 | g.39589809G>A | CA391670052 | FSIP1,THBS1 | c.1931G>A (p.Cys644Tyr) c.771-1235C>T n.397G>A c.1757G>A (p.Cys586Tyr) n.2106G>A | gnomAD v4 |
15 | g.39589809G>C | CA391670053 | FSIP1,THBS1 | c.1931G>C (p.Cys644Ser) c.771-1235C>G n.397G>C c.1757G>C (p.Cys586Ser) n.2106G>C | |
15 | g.39589809G>T | CA391670054 | FSIP1,THBS1 | c.1931G>T (p.Cys644Phe) c.771-1235C>A n.397G>T c.1757G>T (p.Cys586Phe) n.2106G>T | |
15 | g.39589810C>A | CA391670055 | FSIP1,THBS1 | c.1932C>A (p.Cys644Ter) c.771-1236G>T n.398C>A c.1758C>A (p.Cys586Ter) n.2107C>A | |
15 | g.39589810C>G | CA391670056 | FSIP1,THBS1 | c.1932C>G (p.Cys644Trp) c.771-1236G>C n.398C>G c.1758C>G (p.Cys586Trp) n.2107C>G | |
15 | g.39589810C>T | CA489672912 | FSIP1,THBS1 | c.1932C>T (p.Cys644=) c.771-1236G>A n.398C>T c.1758C>T (p.Cys586=) n.2107C>T | |
15 | g.39589811A>C | CA391670057 | FSIP1,THBS1 | c.1933A>C (p.Lys645Gln) c.771-1237T>G n.399A>C c.1759A>C (p.Lys587Gln) n.2108A>C | |
15 | g.39589811A>G | CA391670058 | FSIP1,THBS1 | c.1933A>G (p.Lys645Glu) c.771-1237T>C n.399A>G c.1759A>G (p.Lys587Glu) n.2108A>G | |
15 | g.39589811A>T | CA391670059 | FSIP1,THBS1 | c.1933A>T (p.Lys645Ter) c.771-1237T>A n.399A>T c.1759A>T (p.Lys587Ter) n.2108A>T | |
15 | g.39589812A>C | CA391670060 | FSIP1,THBS1 | c.1934A>C (p.Lys645Thr) c.771-1238T>G n.400A>C c.1760A>C (p.Lys587Thr) n.2109A>C | |
15 | g.39589812A>G | CA391670061 | FSIP1,THBS1 | c.1934A>G (p.Lys645Arg) c.771-1238T>C n.400A>G c.1760A>G (p.Lys587Arg) n.2109A>G | |
15 | g.39589812A>T | CA391670062 | FSIP1,THBS1 | c.1934A>T (p.Lys645Met) c.771-1238T>A n.400A>T c.1760A>T (p.Lys587Met) n.2109A>T | |
15 | g.39589813G>A | CA489672916 | FSIP1,THBS1 | c.1935G>A (p.Lys645=) c.771-1239C>T n.401G>A c.1761G>A (p.Lys587=) n.2110G>A | |
15 | g.39589813G>C | CA391670063 | FSIP1,THBS1 | c.1935G>C (p.Lys645Asn) c.771-1239C>G n.401G>C c.1761G>C (p.Lys587Asn) n.2110G>C | |
15 | g.39589813G>T | CA391670064 | FSIP1,THBS1 | c.1935G>T (p.Lys645Asn) c.771-1239C>A n.401G>T c.1761G>T (p.Lys587Asn) n.2110G>T | |
15 | g.39589814C>A | CA391670067 | FSIP1,THBS1 | c.1936C>A (p.Pro646Thr) c.771-1240G>T n.402C>A c.1762C>A (p.Pro588Thr) n.2111C>A | |
15 | g.39589814C>G | CA391670065 | FSIP1,THBS1 | c.1936C>G (p.Pro646Ala) c.771-1240G>C n.402C>G c.1762C>G (p.Pro588Ala) n.2111C>G | |
15 | g.39589814C>T | CA391670066 | FSIP1,THBS1 | c.1936C>T (p.Pro646Ser) c.771-1240G>A n.402C>T c.1762C>T (p.Pro588Ser) n.2111C>T | |
15 | g.39589815C>A | CA391670068 | FSIP1,THBS1 | c.1937C>A (p.Pro646His) c.771-1241G>T n.403C>A c.1763C>A (p.Pro588His) n.2112C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.39589815C= | CA2171400135 | FSIP1,THBS1 | c.1937C= (p.Pro646=) c.771-1241G= n.403C= c.1763C= (p.Pro588=) n.2112C= | |
15 | g.39589815C>G | CA391670069 | FSIP1,THBS1 | c.1937C>G (p.Pro646Arg) c.771-1241G>C n.403C>G c.1763C>G (p.Pro588Arg) n.2112C>G | |
15 | g.39589815C>T | CA391670070 | FSIP1,THBS1 | c.1937C>T (p.Pro646Leu) c.771-1241G>A n.403C>T c.1763C>T (p.Pro588Leu) n.2112C>T | gnomAD v4 |
15 | g.39589816C>A | CA489672931 | FSIP1,THBS1 | c.1938C>A (p.Pro646=) c.771-1242G>T n.404C>A c.1764C>A (p.Pro588=) n.2113C>A | |
15 | g.39589816C>G | CA489672929 | FSIP1,THBS1 | c.1938C>G (p.Pro646=) c.771-1242G>C n.404C>G c.1764C>G (p.Pro588=) n.2113C>G | |
15 | g.39589816C>T | CA489672928 | FSIP1,THBS1 | c.1938C>T (p.Pro646=) c.771-1242G>A n.404C>T c.1764C>T (p.Pro588=) n.2113C>T | COSMIC |
15 | g.39589817C>A | CA391670071 | FSIP1,THBS1 | c.1939C>A (p.Arg647Ser) c.771-1243G>T n.405C>A c.1765C>A (p.Arg589Ser) n.2114C>A | |
15 | g.39589817C= | CA2171400136 | FSIP1,THBS1 | c.1939C= (p.Arg647=) c.771-1243G= n.405C= c.1765C= (p.Arg589=) n.2114C= | |
15 | g.39589817C>G | CA268725149 | FSIP1,THBS1 | c.1939C>G (p.Arg647Gly) c.771-1243G>C n.405C>G c.1765C>G (p.Arg589Gly) n.2114C>G | dbSNP gnomAD v4 |
15 | g.39589817C>T | CA268725150 | FSIP1,THBS1 | c.1939C>T (p.Arg647Cys) c.771-1243G>A n.405C>T c.1765C>T (p.Arg589Cys) n.2114C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589818G>A | CA7472113 | FSIP1,THBS1 | c.1940G>A (p.Arg647His) c.771-1244C>T n.406G>A c.1766G>A (p.Arg589His) n.2115G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589818G>C | CA391670072 | FSIP1,THBS1 | c.1940G>C (p.Arg647Pro) c.771-1244C>G n.406G>C c.1766G>C (p.Arg589Pro) n.2115G>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.39589818G= | CA2171400137 | FSIP1,THBS1 | c.1940G= (p.Arg647=) c.771-1244C= n.406G= c.1766G= (p.Arg589=) n.2115G= | |
15 | g.39589818G>T | CA391670073 | FSIP1,THBS1 | c.1940G>T (p.Arg647Leu) c.771-1244C>A n.406G>T c.1766G>T (p.Arg589Leu) n.2115G>T | |
15 | g.39589819T>A | CA489672941 | FSIP1,THBS1 | c.1941T>A (p.Arg647=) c.771-1245A>T n.407T>A c.1767T>A (p.Arg589=) n.2116T>A | dbSNP |
15 | g.39589819T>C | CA489672942 | FSIP1,THBS1 | c.1941T>C (p.Arg647=) c.771-1245A>G n.407T>C c.1767T>C (p.Arg589=) n.2116T>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.39589819T>G | CA489672944 | FSIP1,THBS1 | c.1941T>G (p.Arg647=) c.771-1245A>C n.407T>G c.1767T>G (p.Arg589=) n.2116T>G | |
15 | g.39589819T= | CA2171400138 | FSIP1,THBS1 | c.1941T= (p.Arg647=) c.771-1245A= n.407T= c.1767T= (p.Arg589=) n.2116T= | |
15 | g.39589820A>C | CA391670074 | FSIP1,THBS1 | c.1942A>C (p.Asn648His) c.771-1246T>G n.408A>C c.1768A>C (p.Asn590His) n.2117A>C | |
15 | g.39589820A>G | CA391670075 | FSIP1,THBS1 | c.1942A>G (p.Asn648Asp) c.771-1246T>C n.408A>G c.1768A>G (p.Asn590Asp) n.2117A>G | |
15 | g.39589820A>T | CA391670076 | FSIP1,THBS1 | c.1942A>T (p.Asn648Tyr) c.771-1246T>A n.408A>T c.1768A>T (p.Asn590Tyr) n.2117A>T | |
15 | g.39589821A>C | CA391670077 | FSIP1,THBS1 | c.1943A>C (p.Asn648Thr) c.771-1247T>G n.409A>C c.1769A>C (p.Asn590Thr) n.2118A>C | |
15 | g.39589821A>G | CA391670079 | FSIP1,THBS1 | c.1943A>G (p.Asn648Ser) c.771-1247T>C n.409A>G c.1769A>G (p.Asn590Ser) n.2118A>G | |
15 | g.39589821A>T | CA391670078 | FSIP1,THBS1 | c.1943A>T (p.Asn648Ile) c.771-1247T>A n.409A>T c.1769A>T (p.Asn590Ile) n.2118A>T | |
15 | g.39589822C>A | CA391670080 | FSIP1,THBS1 | c.1944C>A (p.Asn648Lys) c.771-1248G>T n.410C>A c.1770C>A (p.Asn590Lys) n.2119C>A | gnomAD v4 |
15 | g.39589822C>G | CA391670081 | FSIP1,THBS1 | c.1944C>G (p.Asn648Lys) c.771-1248G>C n.410C>G c.1770C>G (p.Asn590Lys) n.2119C>G | |
15 | g.39589822C>T | CA489672955 | FSIP1,THBS1 | c.1944C>T (p.Asn648=) c.771-1248G>A n.410C>T c.1770C>T (p.Asn590=) n.2119C>T | |
15 | g.39589823C>A | CA391670082 | FSIP1,THBS1 | c.1945C>A (p.Pro649Thr) c.771-1249G>T n.411C>A c.1771C>A (p.Pro591Thr) n.2120C>A | gnomAD v4 |
15 | g.39589823C>G | CA391670083 | FSIP1,THBS1 | c.1945C>G (p.Pro649Ala) c.771-1249G>C n.411C>G c.1771C>G (p.Pro591Ala) n.2120C>G | |
15 | g.39589823C>T | CA391670084 | FSIP1,THBS1 | c.1945C>T (p.Pro649Ser) c.771-1249G>A n.411C>T c.1771C>T (p.Pro591Ser) n.2120C>T | gnomAD v4 |
15 | g.39589824C>A | CA391670085 | FSIP1,THBS1 | c.1946C>A (p.Pro649His) c.771-1250G>T n.412C>A c.1772C>A (p.Pro591His) n.2121C>A | |
15 | g.39589824C>G | CA391670086 | FSIP1,THBS1 | c.1946C>G (p.Pro649Arg) c.771-1250G>C n.412C>G c.1772C>G (p.Pro591Arg) n.2121C>G | |
15 | g.39589824C>T | CA391670087 | FSIP1,THBS1 | c.1946C>T (p.Pro649Leu) c.771-1250G>A n.412C>T c.1772C>T (p.Pro591Leu) n.2121C>T | |
15 | g.39589825C>A | CA489672958 | FSIP1,THBS1 | c.1947C>A (p.Pro649=) c.771-1251G>T n.413C>A c.1773C>A (p.Pro591=) n.2122C>A | |
15 | g.39589825C>G | CA489672960 | FSIP1,THBS1 | c.1947C>G (p.Pro649=) c.771-1251G>C n.413C>G c.1773C>G (p.Pro591=) n.2122C>G | |
15 | g.39589825C>T | CA489672963 | FSIP1,THBS1 | c.1947C>T (p.Pro649=) c.771-1251G>A n.413C>T c.1773C>T (p.Pro591=) n.2122C>T | gnomAD v4 |
15 | g.39589826T>A | CA391670088 | FSIP1,THBS1 | c.1948T>A (p.Cys650Ser) c.771-1252A>T n.414T>A c.1774T>A (p.Cys592Ser) n.2123T>A | |
15 | g.39589826T>C | CA391670089 | FSIP1,THBS1 | c.1948T>C (p.Cys650Arg) c.771-1252A>G n.414T>C c.1774T>C (p.Cys592Arg) n.2123T>C | |
15 | g.39589826T>G | CA391670090 | FSIP1,THBS1 | c.1948T>G (p.Cys650Gly) c.771-1252A>C n.414T>G c.1774T>G (p.Cys592Gly) n.2123T>G | |
15 | g.39589827G>A | CA391670093 | FSIP1,THBS1 | c.1949G>A (p.Cys650Tyr) c.771-1253C>T n.415G>A c.1775G>A (p.Cys592Tyr) n.2124G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589827G>C | CA391670092 | FSIP1,THBS1 | c.1949G>C (p.Cys650Ser) c.771-1253C>G n.415G>C c.1775G>C (p.Cys592Ser) n.2124G>C | |
15 | g.39589827G= | CA2171400139 | FSIP1,THBS1 | c.1949G= (p.Cys650=) c.771-1253C= n.415G= c.1775G= (p.Cys592=) n.2124G= | |
15 | g.39589827G>T | CA391670091 | FSIP1,THBS1 | c.1949G>T (p.Cys650Phe) c.771-1253C>A n.415G>T c.1775G>T (p.Cys592Phe) n.2124G>T | |
15 | g.39589828C>A | CA391670094 | FSIP1,THBS1 | c.1950C>A (p.Cys650Ter) c.771-1254G>T n.416C>A c.1776C>A (p.Cys592Ter) n.2125C>A | gnomAD v4 |
15 | g.39589828C>G | CA391670095 | FSIP1,THBS1 | c.1950C>G (p.Cys650Trp) c.771-1254G>C n.416C>G c.1776C>G (p.Cys592Trp) n.2125C>G | |
15 | g.39589828C>T | CA489672990 | FSIP1,THBS1 | c.1950C>T (p.Cys650=) c.771-1254G>A n.416C>T c.1776C>T (p.Cys592=) n.2125C>T | |
15 | g.39589829A= | CA2171400140 | FSIP1,THBS1 | c.1951A= (p.Thr651=) c.771-1255T= n.417A= c.1777A= (p.Thr593=) n.2126A= | |
15 | g.39589829A>C | CA391670096 | FSIP1,THBS1 | c.1951A>C (p.Thr651Pro) c.771-1255T>G n.417A>C c.1777A>C (p.Thr593Pro) n.2126A>C | |
15 | g.39589829A>G | CA391670097 | FSIP1,THBS1 | c.1951A>G (p.Thr651Ala) c.771-1255T>C n.417A>G c.1777A>G (p.Thr593Ala) n.2126A>G | |
15 | g.39589829A>T | CA391670098 | FSIP1,THBS1 | c.1951A>T (p.Thr651Ser) c.771-1255T>A n.417A>T c.1777A>T (p.Thr593Ser) n.2126A>T | |
15 | g.39589830C>A | CA391670099 | FSIP1,THBS1 | c.1952C>A (p.Thr651Lys) c.771-1256G>T n.418C>A c.1778C>A (p.Thr593Lys) n.2127C>A | |
15 | g.39589830C= | CA2171400141 | FSIP1,THBS1 | c.1952C= (p.Thr651=) c.771-1256G= n.418C= c.1778C= (p.Thr593=) n.2127C= | |
15 | g.39589830C>G | CA391670100 | FSIP1,THBS1 | c.1952C>G (p.Thr651Arg) c.771-1256G>C n.418C>G c.1778C>G (p.Thr593Arg) n.2127C>G | |
15 | g.39589830C>T | CA7472114 | FSIP1,THBS1 | c.1952C>T (p.Thr651Met) c.771-1256G>A n.418C>T c.1778C>T (p.Thr593Met) n.2127C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589830_39589831insATC | CA617556057 | FSIP1,THBS1 | c.1952_1953insATC (p.Thr651_Asp652insSer) c.771-1256_771-1255insATG n.418_419insATC c.1778_1779insATC (p.Thr593_Asp594insSer) n.2127_2128insATC | dbSNP gnomAD v2 |
15 | g.39589831G>A | CA7472115 | FSIP1,THBS1 | c.1953G>A (p.Thr651=) c.771-1257C>T n.419G>A c.1779G>A (p.Thr593=) n.2128G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589831G>C | CA489672997 | FSIP1,THBS1 | c.1953G>C (p.Thr651=) c.771-1257C>G n.419G>C c.1779G>C (p.Thr593=) n.2128G>C | |
15 | g.39589831G= | CA2171400142 | FSIP1,THBS1 | c.1953G= (p.Thr651=) c.771-1257C= n.419G= c.1779G= (p.Thr593=) n.2128G= | |
15 | g.39589831G>T | CA489672999 | FSIP1,THBS1 | c.1953G>T (p.Thr651=) c.771-1257C>A n.419G>T c.1779G>T (p.Thr593=) n.2128G>T | COSMIC |
15 | g.39589832G>A | CA391670101 | FSIP1,THBS1 | c.1954G>A (p.Asp652Asn) c.771-1258C>T n.420G>A c.1780G>A (p.Asp594Asn) n.2129G>A | |
15 | g.39589832G>C | CA391670102 | FSIP1,THBS1 | c.1954G>C (p.Asp652His) c.771-1258C>G n.420G>C c.1780G>C (p.Asp594His) n.2129G>C | |
15 | g.39589832G>T | CA391670103 | FSIP1,THBS1 | c.1954G>T (p.Asp652Tyr) c.771-1258C>A n.420G>T c.1780G>T (p.Asp594Tyr) n.2129G>T | |
15 | g.39589833A>C | CA391670105 | FSIP1,THBS1 | c.1955A>C (p.Asp652Ala) c.771-1259T>G n.421A>C c.1781A>C (p.Asp594Ala) n.2130A>C | |
15 | g.39589833A>G | CA391670106 | FSIP1,THBS1 | c.1955A>G (p.Asp652Gly) c.771-1259T>C n.421A>G c.1781A>G (p.Asp594Gly) n.2130A>G | |
15 | g.39589833A>T | CA391670104 | FSIP1,THBS1 | c.1955A>T (p.Asp652Val) c.771-1259T>A n.421A>T c.1781A>T (p.Asp594Val) n.2130A>T | |
15 | g.39589834T>A | CA391670108 | FSIP1,THBS1 | c.1956T>A (p.Asp652Glu) c.771-1260A>T n.422T>A c.1782T>A (p.Asp594Glu) n.2131T>A | |
15 | g.39589834T>C | CA489673011 | FSIP1,THBS1 | c.1956T>C (p.Asp652=) c.771-1260A>G n.422T>C c.1782T>C (p.Asp594=) n.2131T>C | |
15 | g.39589834T>G | CA391670107 | FSIP1,THBS1 | c.1956T>G (p.Asp652Glu) c.771-1260A>C n.422T>G c.1782T>G (p.Asp594Glu) n.2131T>G | |
15 | g.39589835G>A | CA391670109 | FSIP1,THBS1 | c.1957G>A (p.Gly653Arg) c.771-1261C>T n.423G>A c.1783G>A (p.Gly595Arg) n.2132G>A | dbSNP gnomAD v3 |
15 | g.39589835G>C | CA391670110 | FSIP1,THBS1 | c.1957G>C (p.Gly653Arg) c.771-1261C>G n.423G>C c.1783G>C (p.Gly595Arg) n.2132G>C | |
15 | g.39589835G= | CA2171400143 | FSIP1,THBS1 | c.1957G= (p.Gly653=) c.771-1261C= n.423G= c.1783G= (p.Gly595=) n.2132G= | |
15 | g.39589835G>T | CA391670111 | FSIP1,THBS1 | c.1957G>T (p.Gly653Trp) c.771-1261C>A n.423G>T c.1783G>T (p.Gly595Trp) n.2132G>T | |
15 | g.39589836G>A | CA391670112 | FSIP1,THBS1 | c.1958G>A (p.Gly653Glu) c.771-1262C>T n.424G>A c.1784G>A (p.Gly595Glu) n.2133G>A | gnomAD v4 |
15 | g.39589836G>C | CA391670113 | FSIP1,THBS1 | c.1958G>C (p.Gly653Ala) c.771-1262C>G n.424G>C c.1784G>C (p.Gly595Ala) n.2133G>C | |
15 | g.39589836G>T | CA391670114 | FSIP1,THBS1 | c.1958G>T (p.Gly653Val) c.771-1262C>A n.424G>T c.1784G>T (p.Gly595Val) n.2133G>T | |
15 | g.39589837G>A | CA489673024 | FSIP1,THBS1 | c.1959G>A (p.Gly653=) c.771-1263C>T n.425G>A c.1785G>A (p.Gly595=) n.2134G>A | gnomAD v4 |
15 | g.39589837G>C | CA489673027 | FSIP1,THBS1 | c.1959G>C (p.Gly653=) c.771-1263C>G n.425G>C c.1785G>C (p.Gly595=) n.2134G>C | |
15 | g.39589837G>T | CA489673026 | FSIP1,THBS1 | c.1959G>T (p.Gly653=) c.771-1263C>A n.425G>T c.1785G>T (p.Gly595=) n.2134G>T | |
15 | g.39589838A>C | CA391670115 | FSIP1,THBS1 | c.1960A>C (p.Thr654Pro) c.771-1264T>G n.426A>C c.1786A>C (p.Thr596Pro) n.2135A>C | |
15 | g.39589838A>G | CA391670116 | FSIP1,THBS1 | c.1960A>G (p.Thr654Ala) c.771-1264T>C n.426A>G c.1786A>G (p.Thr596Ala) n.2135A>G | |
15 | g.39589838A>T | CA391670117 | FSIP1,THBS1 | c.1960A>T (p.Thr654Ser) c.771-1264T>A n.426A>T c.1786A>T (p.Thr596Ser) n.2135A>T | gnomAD v4 |
15 | g.39589839C>A | CA391670118 | FSIP1,THBS1 | c.1961C>A (p.Thr654Asn) c.771-1265G>T n.427C>A c.1787C>A (p.Thr596Asn) n.2136C>A | |
15 | g.39589839C>G | CA391670119 | FSIP1,THBS1 | c.1961C>G (p.Thr654Ser) c.771-1265G>C n.427C>G c.1787C>G (p.Thr596Ser) n.2136C>G | gnomAD v4 |
15 | g.39589839C>T | CA391670120 | FSIP1,THBS1 | c.1961C>T (p.Thr654Ile) c.771-1265G>A n.427C>T c.1787C>T (p.Thr596Ile) n.2136C>T | |
15 | g.39589840C>A | CA489673037 | FSIP1,THBS1 | c.1962C>A (p.Thr654=) c.771-1266G>T n.428C>A c.1788C>A (p.Thr596=) n.2137C>A | |
15 | g.39589840C= | CA2171400144 | FSIP1,THBS1 | c.1962C= (p.Thr654=) c.771-1266G= n.428C= c.1788C= (p.Thr596=) n.2137C= | |
15 | g.39589840C>G | CA489673046 | FSIP1,THBS1 | c.1962C>G (p.Thr654=) c.771-1266G>C n.428C>G c.1788C>G (p.Thr596=) n.2137C>G | dbSNP gnomAD v4 |
15 | g.39589840C>T | CA489673049 | FSIP1,THBS1 | c.1962C>T (p.Thr654=) c.771-1266G>A n.428C>T c.1788C>T (p.Thr596=) n.2137C>T | dbSNP gnomAD v4 |
15 | g.39589841C>A | CA391670123 | FSIP1,THBS1 | c.1963C>A (p.His655Asn) c.771-1267G>T n.429C>A c.1789C>A (p.His597Asn) n.2138C>A | |
15 | g.39589841C>G | CA391670121 | FSIP1,THBS1 | c.1963C>G (p.His655Asp) c.771-1267G>C n.429C>G c.1789C>G (p.His597Asp) n.2138C>G | |
15 | g.39589841C>T | CA391670122 | FSIP1,THBS1 | c.1963C>T (p.His655Tyr) c.771-1267G>A n.429C>T c.1789C>T (p.His597Tyr) n.2138C>T | gnomAD v4 |
15 | g.39589842A>C | CA391670124 | FSIP1,THBS1 | c.1964A>C (p.His655Pro) c.771-1268T>G n.430A>C c.1790A>C (p.His597Pro) n.2139A>C | |
15 | g.39589842A>G | CA391670125 | FSIP1,THBS1 | c.1964A>G (p.His655Arg) c.771-1268T>C n.430A>G c.1790A>G (p.His597Arg) n.2139A>G | gnomAD v4 |
15 | g.39589842A>T | CA391670126 | FSIP1,THBS1 | c.1964A>T (p.His655Leu) c.771-1268T>A n.430A>T c.1790A>T (p.His597Leu) n.2139A>T | |
15 | g.39589843C>A | CA391670127 | FSIP1,THBS1 | c.1965C>A (p.His655Gln) c.771-1269G>T n.431C>A c.1791C>A (p.His597Gln) n.2140C>A | |
15 | g.39589843C= | CA2171400145 | FSIP1,THBS1 | c.1965C= (p.His655=) c.771-1269G= n.431C= c.1791C= (p.His597=) n.2140C= | |
15 | g.39589843C>G | CA391670128 | FSIP1,THBS1 | c.1965C>G (p.His655Gln) c.771-1269G>C n.431C>G c.1791C>G (p.His597Gln) n.2140C>G | |
15 | g.39589843C>T | CA7472116 | FSIP1,THBS1 | c.1965C>T (p.His655=) c.771-1269G>A n.431C>T c.1791C>T (p.His597=) n.2140C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589844G>A | CA7472117 | FSIP1,THBS1 | c.1966G>A (p.Asp656Asn) c.771-1270C>T c.1792G>A (p.Asp598Asn) n.2141G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589844G>C | CA391670129 | FSIP1,THBS1 | c.1966G>C (p.Asp656His) c.771-1270C>G c.1792G>C (p.Asp598His) n.2141G>C | |
15 | g.39589844G= | CA2171400146 | FSIP1,THBS1 | c.1966G= (p.Asp656=) c.771-1270C= c.1792G= (p.Asp598=) n.2141G= | |
15 | g.39589844G>T | CA391670130 | FSIP1,THBS1 | c.1966G>T (p.Asp656Tyr) c.771-1270C>A c.1792G>T (p.Asp598Tyr) n.2141G>T | gnomAD v4 |
15 | g.39589845A>C | CA391670131 | FSIP1,THBS1 | c.1967A>C (p.Asp656Ala) c.771-1271T>G c.1793A>C (p.Asp598Ala) n.2142A>C | |
15 | g.39589845A>G | CA391670132 | FSIP1,THBS1 | c.1967A>G (p.Asp656Gly) c.771-1271T>C c.1793A>G (p.Asp598Gly) n.2142A>G | |
15 | g.39589845A>T | CA391670133 | FSIP1,THBS1 | c.1967A>T (p.Asp656Val) c.771-1271T>A c.1793A>T (p.Asp598Val) n.2142A>T | |
15 | g.39589846C>A | CA391670135 | FSIP1,THBS1 | c.1968C>A (p.Asp656Glu) c.771-1272G>T c.1794C>A (p.Asp598Glu) n.2143C>A | |
15 | g.39589846C>G | CA391670134 | FSIP1,THBS1 | c.1968C>G (p.Asp656Glu) c.771-1272G>C c.1794C>G (p.Asp598Glu) n.2143C>G | |
15 | g.39589846C>T | CA489673058 | FSIP1,THBS1 | c.1968C>T (p.Asp656=) c.771-1272G>A c.1794C>T (p.Asp598=) n.2143C>T | gnomAD v4 |
15 | g.39589847T>A | CA391670136 | FSIP1,THBS1 | c.1969T>A (p.Cys657Ser) c.771-1273A>T c.1795T>A (p.Cys599Ser) n.2144T>A | |
15 | g.39589847T>C | CA391670137 | FSIP1,THBS1 | c.1969T>C (p.Cys657Arg) c.771-1273A>G c.1795T>C (p.Cys599Arg) n.2144T>C | |
15 | g.39589847T>G | CA391670138 | FSIP1,THBS1 | c.1969T>G (p.Cys657Gly) c.771-1273A>C c.1795T>G (p.Cys599Gly) n.2144T>G | |
15 | g.39589848G>A | CA391670139 | FSIP1,THBS1 | c.1970G>A (p.Cys657Tyr) c.771-1274C>T c.1796G>A (p.Cys599Tyr) n.2145G>A | |
15 | g.39589848G>C | CA391670140 | FSIP1,THBS1 | c.1970G>C (p.Cys657Ser) c.771-1274C>G c.1796G>C (p.Cys599Ser) n.2145G>C | |
15 | g.39589848G>T | CA391670141 | FSIP1,THBS1 | c.1970G>T (p.Cys657Phe) c.771-1274C>A c.1796G>T (p.Cys599Phe) n.2145G>T | COSMIC |
15 | g.39589849C>A | CA391670142 | FSIP1,THBS1 | c.1971C>A (p.Cys657Ter) c.771-1275G>T c.1797C>A (p.Cys599Ter) n.2146C>A | |
15 | g.39589849C>G | CA391670143 | FSIP1,THBS1 | c.1971C>G (p.Cys657Trp) c.771-1275G>C c.1797C>G (p.Cys599Trp) n.2146C>G | |
15 | g.39589849C>T | CA489673067 | FSIP1,THBS1 | c.1971C>T (p.Cys657=) c.771-1275G>A c.1797C>T (p.Cys599=) n.2146C>T | |
15 | g.39589850A>C | CA391670144 | FSIP1,THBS1 | c.1972A>C (p.Asn658His) c.771-1276T>G c.1798A>C (p.Asn600His) n.2147A>C | |
15 | g.39589850A>G | CA391670145 | FSIP1,THBS1 | c.1972A>G (p.Asn658Asp) c.771-1276T>C c.1798A>G (p.Asn600Asp) n.2147A>G | |
15 | g.39589850A>T | CA391670146 | FSIP1,THBS1 | c.1972A>T (p.Asn658Tyr) c.771-1276T>A c.1798A>T (p.Asn600Tyr) n.2147A>T | |
15 | g.39589851A>C | CA391670147 | FSIP1,THBS1 | c.1973A>C (p.Asn658Thr) c.771-1277T>G c.1799A>C (p.Asn600Thr) n.2148A>C | |
15 | g.39589851A>G | CA391670148 | FSIP1,THBS1 | c.1973A>G (p.Asn658Ser) c.771-1277T>C c.1799A>G (p.Asn600Ser) n.2148A>G | |
15 | g.39589851A>T | CA391670149 | FSIP1,THBS1 | c.1973A>T (p.Asn658Ile) c.771-1277T>A c.1799A>T (p.Asn600Ile) n.2148A>T | |
15 | g.39589852C>A | CA391670151 | FSIP1,THBS1 | c.1974C>A (p.Asn658Lys) c.771-1278G>T c.1800C>A (p.Asn600Lys) n.2149C>A | |
15 | g.39589852C>G | CA391670150 | FSIP1,THBS1 | c.1974C>G (p.Asn658Lys) c.771-1278G>C c.1800C>G (p.Asn600Lys) n.2149C>G | |
15 | g.39589852C>T | CA489673076 | FSIP1,THBS1 | c.1974C>T (p.Asn658=) c.771-1278G>A c.1800C>T (p.Asn600=) n.2149C>T | gnomAD v4 |
15 | g.39589853A>C | CA391670152 | FSIP1,THBS1 | c.1975A>C (p.Lys659Gln) c.771-1279T>G c.1801A>C (p.Lys601Gln) n.2150A>C | |
15 | g.39589853A>G | CA391670153 | FSIP1,THBS1 | c.1975A>G (p.Lys659Glu) c.771-1279T>C c.1801A>G (p.Lys601Glu) n.2150A>G | |
15 | g.39589853A>T | CA391670154 | FSIP1,THBS1 | c.1975A>T (p.Lys659Ter) c.771-1279T>A c.1801A>T (p.Lys601Ter) n.2150A>T | |
15 | g.39589854A>C | CA391670155 | FSIP1,THBS1 | c.1976A>C (p.Lys659Thr) c.771-1280T>G c.1802A>C (p.Lys601Thr) n.2151A>C | |
15 | g.39589854A>G | CA391670156 | FSIP1,THBS1 | c.1976A>G (p.Lys659Arg) c.771-1280T>C c.1802A>G (p.Lys601Arg) n.2151A>G | |
15 | g.39589854A>T | CA391670157 | FSIP1,THBS1 | c.1976A>T (p.Lys659Met) c.771-1280T>A c.1802A>T (p.Lys601Met) n.2151A>T | |
15 | g.39589855G>A | CA489673094 | FSIP1,THBS1 | c.1977G>A (p.Lys659=) c.771-1281C>T c.1803G>A (p.Lys601=) n.2152G>A | |
15 | g.39589855G>C | CA391670158 | FSIP1,THBS1 | c.1977G>C (p.Lys659Asn) c.771-1281C>G c.1803G>C (p.Lys601Asn) n.2152G>C | |
15 | g.39589855G>T | CA391670159 | FSIP1,THBS1 | c.1977G>T (p.Lys659Asn) c.771-1281C>A c.1803G>T (p.Lys601Asn) n.2152G>T | |
15 | g.39589856A>C | CA391670160 | FSIP1,THBS1 | c.1978A>C (p.Asn660His) c.771-1282T>G c.1804A>C (p.Asn602His) n.2153A>C | |
15 | g.39589856A>G | CA391670161 | FSIP1,THBS1 | c.1978A>G (p.Asn660Asp) c.771-1282T>C c.1804A>G (p.Asn602Asp) n.2153A>G | |
15 | g.39589856A>T | CA391670162 | FSIP1,THBS1 | c.1978A>T (p.Asn660Tyr) c.771-1282T>A c.1804A>T (p.Asn602Tyr) n.2153A>T | |
15 | g.39589857A>C | CA391670163 | FSIP1,THBS1 | c.1979A>C (p.Asn660Thr) c.771-1283T>G c.1805A>C (p.Asn602Thr) n.2154A>C | |
15 | g.39589857A>G | CA391670164 | FSIP1,THBS1 | c.1979A>G (p.Asn660Ser) c.771-1283T>C c.1805A>G (p.Asn602Ser) n.2154A>G | |
15 | g.39589857A>T | CA391670165 | FSIP1,THBS1 | c.1979A>T (p.Asn660Ile) c.771-1283T>A c.1805A>T (p.Asn602Ile) n.2154A>T | |
15 | g.39589858C>A | CA391670167 | FSIP1,THBS1 | c.1980C>A (p.Asn660Lys) c.771-1284G>T c.1806C>A (p.Asn602Lys) n.2155C>A | |
15 | g.39589858C= | CA2171400147 | FSIP1,THBS1 | c.1980C= (p.Asn660=) c.771-1284G= c.1806C= (p.Asn602=) n.2155C= | |
15 | g.39589858C>G | CA391670166 | FSIP1,THBS1 | c.1980C>G (p.Asn660Lys) c.771-1284G>C c.1806C>G (p.Asn602Lys) n.2155C>G | |
15 | g.39589858C>T | CA7472118 | FSIP1,THBS1 | c.1980C>T (p.Asn660=) c.771-1284G>A c.1806C>T (p.Asn602=) n.2155C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.39589859G>A | CA7472119 | FSIP1,THBS1 | c.1981G>A (p.Ala661Thr) c.771-1285C>T c.1807G>A (p.Ala603Thr) n.2156G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.39589859G>C | CA391670168 | FSIP1,THBS1 | c.1981G>C (p.Ala661Pro) c.771-1285C>G c.1807G>C (p.Ala603Pro) n.2156G>C | |
15 | g.39589859G= | CA2171400148 | FSIP1,THBS1 | c.1981G= (p.Ala661=) c.771-1285C= c.1807G= (p.Ala603=) n.2156G= | |
15 | g.39589859G>T | CA391670169 | FSIP1,THBS1 | c.1981G>T (p.Ala661Ser) c.771-1285C>A c.1807G>T (p.Ala603Ser) n.2156G>T | |
15 | g.39589860C>A | CA391670170 | FSIP1,THBS1 | c.1982C>A (p.Ala661Asp) c.771-1286G>T c.1808C>A (p.Ala603Asp) n.2157C>A | |
15 | g.39589860C>G | CA391670171 | FSIP1,THBS1 | c.1982C>G (p.Ala661Gly) c.771-1286G>C c.1808C>G (p.Ala603Gly) n.2157C>G | |
15 | g.39589860C>T | CA391670172 | FSIP1,THBS1 | c.1982C>T (p.Ala661Val) c.771-1286G>A c.1808C>T (p.Ala603Val) n.2157C>T | |
15 | g.39589861C>A | CA489673114 | FSIP1,THBS1 | c.1983C>A (p.Ala661=) c.771-1287G>T c.1809C>A (p.Ala603=) n.2158C>A | |
15 | g.39589861C>G | CA489673116 | FSIP1,THBS1 | c.1983C>G (p.Ala661=) c.771-1287G>C c.1809C>G (p.Ala603=) n.2158C>G | |
15 | g.39589861C>T | CA489673118 | FSIP1,THBS1 | c.1983C>T (p.Ala661=) c.771-1287G>A c.1809C>T (p.Ala603=) n.2158C>T | gnomAD v4 |
15 | g.39589862A>C | CA391670173 | FSIP1,THBS1 | c.1984A>C (p.Lys662Gln) c.771-1288T>G c.1810A>C (p.Lys604Gln) n.2159A>C | |
15 | g.39589862A>G | CA391670174 | FSIP1,THBS1 | c.1984A>G (p.Lys662Glu) c.771-1288T>C c.1810A>G (p.Lys604Glu) n.2159A>G | |
15 | g.39589862A>T | CA391670175 | FSIP1,THBS1 | c.1984A>T (p.Lys662Ter) c.771-1288T>A c.1810A>T (p.Lys604Ter) n.2159A>T | |
15 | g.39589863A>C | CA391670176 | FSIP1,THBS1 | c.1985A>C (p.Lys662Thr) c.771-1289T>G c.1811A>C (p.Lys604Thr) n.2160A>C | |
15 | g.39589863A>G | CA391670177 | FSIP1,THBS1 | c.1985A>G (p.Lys662Arg) c.771-1289T>C c.1811A>G (p.Lys604Arg) n.2160A>G | |
15 | g.39589863A>T | CA391670178 | FSIP1,THBS1 | c.1985A>T (p.Lys662Met) c.771-1289T>A c.1811A>T (p.Lys604Met) n.2160A>T | |
15 | g.39589864G>A | CA489673132 | FSIP1,THBS1 | c.1986G>A (p.Lys662=) c.771-1290C>T c.1812G>A (p.Lys604=) n.2161G>A | gnomAD v4 |
15 | g.39589864G>C | CA391670179 | FSIP1,THBS1 | c.1986G>C (p.Lys662Asn) c.771-1290C>G c.1812G>C (p.Lys604Asn) n.2161G>C | |
15 | g.39589864G>T | CA391670180 | FSIP1,THBS1 | c.1986G>T (p.Lys662Asn) c.771-1290C>A c.1812G>T (p.Lys604Asn) n.2161G>T | |
15 | g.39589865T>A | CA391670183 | FSIP1,THBS1 | c.1987T>A (p.Cys663Ser) c.771-1291A>T c.1813T>A (p.Cys605Ser) n.2162T>A | |
15 | g.39589865T>C | CA391670182 | FSIP1,THBS1 | c.1987T>C (p.Cys663Arg) c.771-1291A>G c.1813T>C (p.Cys605Arg) n.2162T>C | |
15 | g.39589865T>G | CA391670181 | FSIP1,THBS1 | c.1987T>G (p.Cys663Gly) c.771-1291A>C c.1813T>G (p.Cys605Gly) n.2162T>G | |
15 | g.39589866G>A | CA391670184 | FSIP1,THBS1 | c.1988G>A (p.Cys663Tyr) c.771-1292C>T c.1814G>A (p.Cys605Tyr) n.2163G>A | |
15 | g.39589866G>C | CA391670185 | FSIP1,THBS1 | c.1988G>C (p.Cys663Ser) c.771-1292C>G c.1814G>C (p.Cys605Ser) n.2163G>C | gnomAD v4 |
15 | g.39589866G>T | CA391670186 | FSIP1,THBS1 | c.1988G>T (p.Cys663Phe) c.771-1292C>A c.1814G>T (p.Cys605Phe) n.2163G>T | |
15 | g.39589867C>A | CA391670187 | FSIP1,THBS1 | c.1989C>A (p.Cys663Ter) c.771-1293G>T c.1815C>A (p.Cys605Ter) n.2164C>A | |
15 | g.39589867C>G | CA391670188 | FSIP1,THBS1 | c.1989C>G (p.Cys663Trp) c.771-1293G>C c.1815C>G (p.Cys605Trp) n.2164C>G | |
15 | g.39589867C>T | CA489673149 | FSIP1,THBS1 | c.1989C>T (p.Cys663=) c.771-1293G>A c.1815C>T (p.Cys605=) n.2164C>T | |
15 | g.39589868A>C | CA391670189 | FSIP1,THBS1 | c.1990A>C (p.Asn664His) c.771-1294T>G c.1816A>C (p.Asn606His) n.2165A>C | |
15 | g.39589868A>G | CA391670190 | FSIP1,THBS1 | c.1990A>G (p.Asn664Asp) c.771-1294T>C c.1816A>G (p.Asn606Asp) n.2165A>G | |
15 | g.39589868A>T | CA391670191 | FSIP1,THBS1 | c.1990A>T (p.Asn664Tyr) c.771-1294T>A c.1816A>T (p.Asn606Tyr) n.2165A>T | |
15 | g.39589869A>C | CA391670192 | FSIP1,THBS1 | c.1991A>C (p.Asn664Thr) c.771-1295T>G c.1817A>C (p.Asn606Thr) n.2166A>C | |
15 | g.39589869A>G | CA391670193 | FSIP1,THBS1 | c.1991A>G (p.Asn664Ser) c.771-1295T>C c.1817A>G (p.Asn606Ser) n.2166A>G | |
15 | g.39589869A>T | CA391670194 | FSIP1,THBS1 | c.1991A>T (p.Asn664Ile) c.771-1295T>A c.1817A>T (p.Asn606Ile) n.2166A>T | |
15 | g.39589870C>A | CA391670195 | FSIP1,THBS1 | c.1992C>A (p.Asn664Lys) c.771-1296G>T c.1818C>A (p.Asn606Lys) n.2167C>A | |
15 | g.39589870C>G | CA391670196 | FSIP1,THBS1 | c.1992C>G (p.Asn664Lys) c.771-1296G>C c.1818C>G (p.Asn606Lys) n.2167C>G | |
15 | g.39589870C>T | CA489673158 | FSIP1,THBS1 | c.1992C>T (p.Asn664=) c.771-1296G>A c.1818C>T (p.Asn606=) n.2167C>T | |
15 | g.39589871T>A | CA391670198 | FSIP1,THBS1 | c.1993T>A (p.Tyr665Asn) c.771-1297A>T c.1819T>A (p.Tyr607Asn) n.2168T>A | |
15 | g.39589871T>C | CA7472120 | FSIP1,THBS1 | c.1993T>C (p.Tyr665His) c.771-1297A>G c.1819T>C (p.Tyr607His) n.2168T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589871T>G | CA391670197 | FSIP1,THBS1 | c.1993T>G (p.Tyr665Asp) c.771-1297A>C c.1819T>G (p.Tyr607Asp) n.2168T>G | |
15 | g.39589871T= | CA2171400149 | FSIP1,THBS1 | c.1993T= (p.Tyr665=) c.771-1297A= c.1819T= (p.Tyr607=) n.2168T= | |
15 | g.39589872A>C | CA391670201 | FSIP1,THBS1 | c.1994A>C (p.Tyr665Ser) c.771-1298T>G c.1820A>C (p.Tyr607Ser) n.2169A>C | |
15 | g.39589872A>G | CA391670199 | FSIP1,THBS1 | c.1994A>G (p.Tyr665Cys) c.771-1298T>C c.1820A>G (p.Tyr607Cys) n.2169A>G | |
15 | g.39589872A>T | CA391670200 | FSIP1,THBS1 | c.1994A>T (p.Tyr665Phe) c.771-1298T>A c.1820A>T (p.Tyr607Phe) n.2169A>T | |
15 | g.39589873C>A | CA391670202 | FSIP1,THBS1 | c.1995C>A (p.Tyr665Ter) c.771-1299G>T c.1821C>A (p.Tyr607Ter) n.2170C>A | |
15 | g.39589873C>G | CA391670203 | FSIP1,THBS1 | c.1995C>G (p.Tyr665Ter) c.771-1299G>C c.1821C>G (p.Tyr607Ter) n.2170C>G | |
15 | g.39589873C>T | CA489673170 | FSIP1,THBS1 | c.1995C>T (p.Tyr665=) c.771-1299G>A c.1821C>T (p.Tyr607=) n.2170C>T | gnomAD v4 |
15 | g.39589874C>A | CA391670204 | FSIP1,THBS1 | c.1996C>A (p.Leu666Met) c.771-1300G>T c.1822C>A (p.Leu608Met) n.2171C>A | |
15 | g.39589874C>G | CA391670205 | FSIP1,THBS1 | c.1996C>G (p.Leu666Val) c.771-1300G>C c.1822C>G (p.Leu608Val) n.2171C>G | gnomAD v4 |
15 | g.39589874C>T | CA489673176 | FSIP1,THBS1 | c.1996C>T (p.Leu666=) c.771-1300G>A c.1822C>T (p.Leu608=) n.2171C>T | |
15 | g.39589875T>A | CA391670206 | FSIP1,THBS1 | c.1997T>A (p.Leu666Gln) c.771-1301A>T c.1823T>A (p.Leu608Gln) n.2172T>A | |
15 | g.39589875T>C | CA391670207 | FSIP1,THBS1 | c.1997T>C (p.Leu666Pro) c.771-1301A>G c.1823T>C (p.Leu608Pro) n.2172T>C | |
15 | g.39589875T>G | CA391670208 | FSIP1,THBS1 | c.1997T>G (p.Leu666Arg) c.771-1301A>C c.1823T>G (p.Leu608Arg) n.2172T>G | |
15 | g.39589876G>A | CA489673181 | FSIP1,THBS1 | c.1998G>A (p.Leu666=) c.771-1302C>T c.1824G>A (p.Leu608=) n.2173G>A | COSMIC |
15 | g.39589876G>C | CA489673186 | FSIP1,THBS1 | c.1998G>C (p.Leu666=) c.771-1302C>G c.1824G>C (p.Leu608=) n.2173G>C | |
15 | g.39589876G>T | CA489673184 | FSIP1,THBS1 | c.1998G>T (p.Leu666=) c.771-1302C>A c.1824G>T (p.Leu608=) n.2173G>T | |
15 | g.39589877G>A | CA391670209 | FSIP1,THBS1 | c.1999G>A (p.Gly667Ser) c.771-1303C>T c.1825G>A (p.Gly609Ser) n.2174G>A | |
15 | g.39589877G>C | CA391670210 | FSIP1,THBS1 | c.1999G>C (p.Gly667Arg) c.771-1303C>G c.1825G>C (p.Gly609Arg) n.2174G>C | |
15 | g.39589877G>T | CA391670211 | FSIP1,THBS1 | c.1999G>T (p.Gly667Cys) c.771-1303C>A c.1825G>T (p.Gly609Cys) n.2174G>T | |
15 | g.39589878G>A | CA391670213 | FSIP1,THBS1 | c.2000G>A (p.Gly667Asp) c.771-1304C>T c.1826G>A (p.Gly609Asp) n.2175G>A | gnomAD v4 |
15 | g.39589878G>C | CA391670214 | FSIP1,THBS1 | c.2000G>C (p.Gly667Ala) c.771-1304C>G c.1826G>C (p.Gly609Ala) n.2175G>C | |
15 | g.39589878G>T | CA391670212 | FSIP1,THBS1 | c.2000G>T (p.Gly667Val) c.771-1304C>A c.1826G>T (p.Gly609Val) n.2175G>T | |
15 | g.39589879C>A | CA489673197 | FSIP1,THBS1 | c.2001C>A (p.Gly667=) c.771-1305G>T c.1827C>A (p.Gly609=) n.2176C>A | |
15 | g.39589879C>G | CA489673199 | FSIP1,THBS1 | c.2001C>G (p.Gly667=) c.771-1305G>C c.1827C>G (p.Gly609=) n.2176C>G | |
15 | g.39589879C>T | CA489673201 | FSIP1,THBS1 | c.2001C>T (p.Gly667=) c.771-1305G>A c.1827C>T (p.Gly609=) n.2176C>T | |
15 | g.39589880C>A | CA391670215 | FSIP1,THBS1 | c.2002C>A (p.His668Asn) c.771-1306G>T c.1828C>A (p.His610Asn) n.2177C>A | |
15 | g.39589880C>G | CA391670216 | FSIP1,THBS1 | c.2002C>G (p.His668Asp) c.771-1306G>C c.1828C>G (p.His610Asp) n.2177C>G | |
15 | g.39589880C>T | CA391670217 | FSIP1,THBS1 | c.2002C>T (p.His668Tyr) c.771-1306G>A c.1828C>T (p.His610Tyr) n.2177C>T | |
15 | g.39589881A= | CA2171400150 | FSIP1,THBS1 | c.2003A= (p.His668=) c.771-1307T= c.1829A= (p.His610=) n.2178A= | |
15 | g.39589881A>C | CA391670218 | FSIP1,THBS1 | c.2003A>C (p.His668Pro) c.771-1307T>G c.1829A>C (p.His610Pro) n.2178A>C | |
15 | g.39589881A>G | CA391670219 | FSIP1,THBS1 | c.2003A>G (p.His668Arg) c.771-1307T>C c.1829A>G (p.His610Arg) n.2178A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
15 | g.39589881A>T | CA391670220 | FSIP1,THBS1 | c.2003A>T (p.His668Leu) c.771-1307T>A c.1829A>T (p.His610Leu) n.2178A>T | |
15 | g.39589882C>A | CA391670221 | FSIP1,THBS1 | c.2004C>A (p.His668Gln) c.771-1308G>T c.1830C>A (p.His610Gln) n.2179C>A | |
15 | g.39589882C>G | CA391670222 | FSIP1,THBS1 | c.2004C>G (p.His668Gln) c.771-1308G>C c.1830C>G (p.His610Gln) n.2179C>G | |
15 | g.39589882C>T | CA489673214 | FSIP1,THBS1 | c.2004C>T (p.His668=) c.771-1308G>A c.1830C>T (p.His610=) n.2179C>T | |
15 | g.39589883T>A | CA391670223 | FSIP1,THBS1 | c.2005T>A (p.Tyr669Asn) c.771-1309A>T c.1831T>A (p.Tyr611Asn) n.2180T>A | |
15 | g.39589883T>C | CA391670224 | FSIP1,THBS1 | c.2005T>C (p.Tyr669His) c.771-1309A>G c.1831T>C (p.Tyr611His) n.2180T>C | |
15 | g.39589883T>G | CA391670225 | FSIP1,THBS1 | c.2005T>G (p.Tyr669Asp) c.771-1309A>C c.1831T>G (p.Tyr611Asp) n.2180T>G | |
15 | g.39589884A= | CA2171400151 | FSIP1,THBS1 | c.2006A= (p.Tyr669=) c.771-1310T= c.1832A= (p.Tyr611=) n.2181A= | |
15 | g.39589884A>C | CA391670226 | FSIP1,THBS1 | c.2006A>C (p.Tyr669Ser) c.771-1310T>G c.1832A>C (p.Tyr611Ser) n.2181A>C | |
15 | g.39589884A>G | CA391670227 | FSIP1,THBS1 | c.2006A>G (p.Tyr669Cys) c.771-1310T>C c.1832A>G (p.Tyr611Cys) n.2181A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.39589884A>T | CA391670228 | FSIP1,THBS1 | c.2006A>T (p.Tyr669Phe) c.771-1310T>A c.1832A>T (p.Tyr611Phe) n.2181A>T | |
15 | g.39589885T>A | CA391670230 | FSIP1,THBS1 | c.2007T>A (p.Tyr669Ter) c.771-1311A>T c.1833T>A (p.Tyr611Ter) n.2182T>A | |
15 | g.39589885T>C | CA7472121 | FSIP1,THBS1 | c.2007T>C (p.Tyr669=) c.771-1311A>G c.1833T>C (p.Tyr611=) n.2182T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.39589885T>G | CA391670229 | FSIP1,THBS1 | c.2007T>G (p.Tyr669Ter) c.771-1311A>C c.1833T>G (p.Tyr611Ter) n.2182T>G | |
15 | g.39589885T= | CA2171400152 | FSIP1,THBS1 | c.2007T= (p.Tyr669=) c.771-1311A= c.1833T= (p.Tyr611=) n.2182T= |