Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.39589779G>ACA712638754FSIP1,THBS1c.1927-26G>A (n.1927-26G>A)
c.771-1205C>T
n.393-26G>A
c.1753-26G>A (n.1753-26G>A)
n.2102-26G>A
 dbSNP gnomAD v3 gnomAD v4
15g.39589779G=CA2171400116FSIP1,THBS1c.1927-26G= (n.1927-26G=)
c.771-1205C=
n.393-26G=
c.1753-26G= (n.1753-26G=)
n.2102-26G=
15g.39589779G>TCA7472105FSIP1,THBS1c.1927-26G>T (n.1927-26G>T)
c.771-1205C>A
n.393-26G>T
c.1753-26G>T (n.1753-26G>T)
n.2102-26G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.39589781A=CA2171400118FSIP1,THBS1c.1927-24A= (n.1927-24A=)
c.771-1207T=
n.393-24A=
c.1753-24A= (n.1753-24A=)
n.2102-24A=
15g.39589781A>GCA2171400117FSIP1,THBS1c.1927-24A>G (n.1927-24A>G)
c.771-1207T>C
n.393-24A>G
c.1753-24A>G (n.1753-24A>G)
n.2102-24A>G
 dbSNP
15g.39589782A>GCA2627743838FSIP1,THBS1c.1927-23A>G (n.1927-23A>G)
c.771-1208T>C
n.393-23A>G
c.1753-23A>G (n.1753-23A>G)
n.2102-23A>G
 gnomAD v4
15g.39589783C>ACA2627743839FSIP1,THBS1c.1927-22C>A (n.1927-22C>A)
c.771-1209G>T
n.393-22C>A
c.1753-22C>A (n.1753-22C>A)
n.2102-22C>A
 gnomAD v4
15g.39589783C=CA2171400120FSIP1,THBS1c.1927-22C= (n.1927-22C=)
c.771-1209G=
n.393-22C=
c.1753-22C= (n.1753-22C=)
n.2102-22C=
15g.39589783C>GCA617556054FSIP1,THBS1c.1927-22C>G (n.1927-22C>G)
c.771-1209G>C
n.393-22C>G
c.1753-22C>G (n.1753-22C>G)
n.2102-22C>G
 dbSNP gnomAD v2 gnomAD v4
15g.39589783C>TCA2575674334FSIP1,THBS1c.1927-22C>T (n.1927-22C>T)
c.771-1209G>A
n.393-22C>T
c.1753-22C>T (n.1753-22C>T)
n.2102-22C>T
 gnomAD v4
15g.39589783_39589784delinsCACA2171400119FSIP1,THBS1c.1927-22_1927-21delinsCA (n.1927-22_1927-21delinsCA)
c.771-1210_771-1209delinsTG
n.393-22_393-21delinsCA
c.1753-22_1753-21delinsCA (n.1753-22_1753-21delinsCA)
n.2102-22_2102-21delinsCA
15g.39589784delCA617556055FSIP1,THBS1c.1927-21del (n.1927-21del)
c.771-1210del
n.393-21del
c.1753-21del (n.1753-21del)
n.2102-21del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.39589785G=CA2171400121FSIP1,THBS1c.1927-20G= (n.1927-20G=)
c.771-1211C=
n.393-20G=
c.1753-20G= (n.1753-20G=)
n.2102-20G=
15g.39589785G>TCA7472106FSIP1,THBS1c.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
15g.39589789C>ACA2627743841FSIP1,THBS1c.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
15g.39589789C>GCA2730719418FSIP1,THBS1c.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
15g.39589790A>CCA2627743842FSIP1,THBS1c.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
15g.39589790A>GCA2627743843FSIP1,THBS1c.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
15g.39589791T>CCA617556056FSIP1,THBS1c.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
15g.39589791T>GCA2627743845FSIP1,THBS1c.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
15g.39589791T=CA2171400122FSIP1,THBS1c.1927-14T= (n.1927-14T=)
c.771-1217A=
n.393-14T=
c.1753-14T= (n.1753-14T=)
n.2102-14T=
15g.39589792G=CA2171400123FSIP1,THBS1c.1927-13G= (n.1927-13G=)
c.771-1218C=
n.393-13G=
c.1753-13G= (n.1753-13G=)
n.2102-13G=
15g.39589793G>ACA7472107FSIP1,THBS1c.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
15g.39589793G=CA2171400125FSIP1,THBS1c.1927-12G= (n.1927-12G=)
c.771-1219C=
n.393-12G=
c.1753-12G= (n.1753-12G=)
n.2102-12G=
15g.39589793_39589796dupCA2171400124FSIP1,THBS1c.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
15g.39589795G>ACA7472109FSIP1,THBS1c.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
15g.39589795G=CA2171400126FSIP1,THBS1c.1927-10G= (n.1927-10G=)
c.771-1221C=
n.393-10G=
c.1753-10G= (n.1753-10G=)
n.2102-10G=
15g.39589795G>TCA7472108FSIP1,THBS1c.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
15g.39589797A>CCA2627743847FSIP1,THBS1c.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
15g.39589798C>ACA2627743849FSIP1,THBS1c.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
15g.39589798C=CA2171400127FSIP1,THBS1c.1927-7C= (n.1927-7C=)
c.771-1224G=
n.393-7C=
c.1753-7C= (n.1753-7C=)
n.2102-7C=
15g.39589798C>TCA2171400128FSIP1,THBS1c.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
15g.39589799C>ACA7472110FSIP1,THBS1c.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
15g.39589799C=CA2171400129FSIP1,THBS1c.1927-6C= (n.1927-6C=)
c.771-1225G=
n.393-6C=
c.1753-6C= (n.1753-6C=)
n.2102-6C=
15g.39589799C>TCA2627743850FSIP1,THBS1c.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
15g.39589801T>ACA2171400131FSIP1,THBS1c.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
15g.39589801T=CA2171400130FSIP1,THBS1c.1927-4T= (n.1927-4T=)
c.771-1227A=
n.393-4T=
c.1753-4T= (n.1753-4T=)
n.2102-4T=
15g.39589802C>ACA2627743851FSIP1,THBS1c.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
15g.39589802C=CA2171400132FSIP1,THBS1c.1927-3C= (n.1927-3C=)
c.771-1228G=
n.393-3C=
c.1753-3C= (n.1753-3C=)
n.2102-3C=
15g.39589802C>GCA7472111FSIP1,THBS1c.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
15g.39589802C>TCA645574798FSIP1,THBS1c.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
15g.39589803delCA968901184FSIP1,THBS1c.1927-2del (n.1927-2del)
c.771-1229del
n.393-2del
c.1753-2del (n.1753-2del)
n.2102-2del
 gnomAD v3 gnomAD v4
15g.39589803A>CCA391670038FSIP1,THBS1c.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
15g.39589803A>GCA391670039FSIP1,THBS1c.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
15g.39589803A>TCA391670040FSIP1,THBS1c.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
15g.39589804G>ACA391670041FSIP1,THBS1c.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
15g.39589804G>CCA391670042FSIP1,THBS1c.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
15g.39589804G>TCA391670043FSIP1,THBS1c.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
15g.39589805G>ACA268725139FSIP1,THBS1c.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
15g.39589805G>CCA391670044FSIP1,THBS1c.1927G>C (p.Val643Leu)
c.771-1231C>G
n.393G>C
c.1753G>C (p.Val585Leu)
n.2102G>C
 dbSNP gnomAD v2 gnomAD v4
15g.39589805G=CA2171400133FSIP1,THBS1c.1927G= (p.Val643=)
c.771-1231C=
n.393G=
c.1753G= (p.Val585=)
n.2102G=
15g.39589805G>TCA391670045FSIP1,THBS1c.1927G>T (p.Val643Leu)
c.771-1231C>A
n.393G>T
c.1753G>T (p.Val585Leu)
n.2102G>T
15g.39589806T>ACA391670048FSIP1,THBS1c.1928T>A (p.Val643Glu)
c.771-1232A>T
n.394T>A
c.1754T>A (p.Val585Glu)
n.2103T>A
15g.39589806T>CCA391670046FSIP1,THBS1c.1928T>C (p.Val643Ala)
c.771-1232A>G
n.394T>C
c.1754T>C (p.Val585Ala)
n.2103T>C
15g.39589806T>GCA391670047FSIP1,THBS1c.1928T>G (p.Val643Gly)
c.771-1232A>C
n.394T>G
c.1754T>G (p.Val585Gly)
n.2103T>G
15g.39589807G>ACA7472112FSIP1,THBS1c.1929G>A (p.Val643=)
c.771-1233C>T
n.395G>A
c.1755G>A (p.Val585=)
n.2104G>A
 dbSNP ExAC gnomAD v2 COSMIC
15g.39589807G>CCA489672894FSIP1,THBS1c.1929G>C (p.Val643=)
c.771-1233C>G
n.395G>C
c.1755G>C (p.Val585=)
n.2104G>C
15g.39589807G=CA2171400134FSIP1,THBS1c.1929G= (p.Val643=)
c.771-1233C=
n.395G=
c.1755G= (p.Val585=)
n.2104G=
15g.39589807G>TCA489672891FSIP1,THBS1c.1929G>T (p.Val643=)
c.771-1233C>A
n.395G>T
c.1755G>T (p.Val585=)
n.2104G>T
15g.39589808T>ACA391670050FSIP1,THBS1c.1930T>A (p.Cys644Ser)
c.771-1234A>T
n.396T>A
c.1756T>A (p.Cys586Ser)
n.2105T>A
15g.39589808T>CCA391670049FSIP1,THBS1c.1930T>C (p.Cys644Arg)
c.771-1234A>G
n.396T>C
c.1756T>C (p.Cys586Arg)
n.2105T>C
15g.39589808T>GCA391670051FSIP1,THBS1c.1930T>G (p.Cys644Gly)
c.771-1234A>C
n.396T>G
c.1756T>G (p.Cys586Gly)
n.2105T>G
15g.39589809G>ACA391670052FSIP1,THBS1c.1931G>A (p.Cys644Tyr)
c.771-1235C>T
n.397G>A
c.1757G>A (p.Cys586Tyr)
n.2106G>A
 gnomAD v4
15g.39589809G>CCA391670053FSIP1,THBS1c.1931G>C (p.Cys644Ser)
c.771-1235C>G
n.397G>C
c.1757G>C (p.Cys586Ser)
n.2106G>C
15g.39589809G>TCA391670054FSIP1,THBS1c.1931G>T (p.Cys644Phe)
c.771-1235C>A
n.397G>T
c.1757G>T (p.Cys586Phe)
n.2106G>T
15g.39589810C>ACA391670055FSIP1,THBS1c.1932C>A (p.Cys644Ter)
c.771-1236G>T
n.398C>A
c.1758C>A (p.Cys586Ter)
n.2107C>A
15g.39589810C>GCA391670056FSIP1,THBS1c.1932C>G (p.Cys644Trp)
c.771-1236G>C
n.398C>G
c.1758C>G (p.Cys586Trp)
n.2107C>G
15g.39589810C>TCA489672912FSIP1,THBS1c.1932C>T (p.Cys644=)
c.771-1236G>A
n.398C>T
c.1758C>T (p.Cys586=)
n.2107C>T
15g.39589811A>CCA391670057FSIP1,THBS1c.1933A>C (p.Lys645Gln)
c.771-1237T>G
n.399A>C
c.1759A>C (p.Lys587Gln)
n.2108A>C
15g.39589811A>GCA391670058FSIP1,THBS1c.1933A>G (p.Lys645Glu)
c.771-1237T>C
n.399A>G
c.1759A>G (p.Lys587Glu)
n.2108A>G
15g.39589811A>TCA391670059FSIP1,THBS1c.1933A>T (p.Lys645Ter)
c.771-1237T>A
n.399A>T
c.1759A>T (p.Lys587Ter)
n.2108A>T
15g.39589812A>CCA391670060FSIP1,THBS1c.1934A>C (p.Lys645Thr)
c.771-1238T>G
n.400A>C
c.1760A>C (p.Lys587Thr)
n.2109A>C
15g.39589812A>GCA391670061FSIP1,THBS1c.1934A>G (p.Lys645Arg)
c.771-1238T>C
n.400A>G
c.1760A>G (p.Lys587Arg)
n.2109A>G
15g.39589812A>TCA391670062FSIP1,THBS1c.1934A>T (p.Lys645Met)
c.771-1238T>A
n.400A>T
c.1760A>T (p.Lys587Met)
n.2109A>T
15g.39589813G>ACA489672916FSIP1,THBS1c.1935G>A (p.Lys645=)
c.771-1239C>T
n.401G>A
c.1761G>A (p.Lys587=)
n.2110G>A
15g.39589813G>CCA391670063FSIP1,THBS1c.1935G>C (p.Lys645Asn)
c.771-1239C>G
n.401G>C
c.1761G>C (p.Lys587Asn)
n.2110G>C
15g.39589813G>TCA391670064FSIP1,THBS1c.1935G>T (p.Lys645Asn)
c.771-1239C>A
n.401G>T
c.1761G>T (p.Lys587Asn)
n.2110G>T
15g.39589814C>ACA391670067FSIP1,THBS1c.1936C>A (p.Pro646Thr)
c.771-1240G>T
n.402C>A
c.1762C>A (p.Pro588Thr)
n.2111C>A
15g.39589814C>GCA391670065FSIP1,THBS1c.1936C>G (p.Pro646Ala)
c.771-1240G>C
n.402C>G
c.1762C>G (p.Pro588Ala)
n.2111C>G
15g.39589814C>TCA391670066FSIP1,THBS1c.1936C>T (p.Pro646Ser)
c.771-1240G>A
n.402C>T
c.1762C>T (p.Pro588Ser)
n.2111C>T
15g.39589815C>ACA391670068FSIP1,THBS1c.1937C>A (p.Pro646His)
c.771-1241G>T
n.403C>A
c.1763C>A (p.Pro588His)
n.2112C>A
 dbSNP gnomAD v3 gnomAD v4
15g.39589815C=CA2171400135FSIP1,THBS1c.1937C= (p.Pro646=)
c.771-1241G=
n.403C=
c.1763C= (p.Pro588=)
n.2112C=
15g.39589815C>GCA391670069FSIP1,THBS1c.1937C>G (p.Pro646Arg)
c.771-1241G>C
n.403C>G
c.1763C>G (p.Pro588Arg)
n.2112C>G
15g.39589815C>TCA391670070FSIP1,THBS1c.1937C>T (p.Pro646Leu)
c.771-1241G>A
n.403C>T
c.1763C>T (p.Pro588Leu)
n.2112C>T
 gnomAD v4
15g.39589816C>ACA489672931FSIP1,THBS1c.1938C>A (p.Pro646=)
c.771-1242G>T
n.404C>A
c.1764C>A (p.Pro588=)
n.2113C>A
15g.39589816C>GCA489672929FSIP1,THBS1c.1938C>G (p.Pro646=)
c.771-1242G>C
n.404C>G
c.1764C>G (p.Pro588=)
n.2113C>G
15g.39589816C>TCA489672928FSIP1,THBS1c.1938C>T (p.Pro646=)
c.771-1242G>A
n.404C>T
c.1764C>T (p.Pro588=)
n.2113C>T
 COSMIC
15g.39589817C>ACA391670071FSIP1,THBS1c.1939C>A (p.Arg647Ser)
c.771-1243G>T
n.405C>A
c.1765C>A (p.Arg589Ser)
n.2114C>A
15g.39589817C=CA2171400136FSIP1,THBS1c.1939C= (p.Arg647=)
c.771-1243G=
n.405C=
c.1765C= (p.Arg589=)
n.2114C=
15g.39589817C>GCA268725149FSIP1,THBS1c.1939C>G (p.Arg647Gly)
c.771-1243G>C
n.405C>G
c.1765C>G (p.Arg589Gly)
n.2114C>G
 dbSNP gnomAD v4
15g.39589817C>TCA268725150FSIP1,THBS1c.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
15g.39589818G>ACA7472113FSIP1,THBS1c.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
15g.39589818G>CCA391670072FSIP1,THBS1c.1940G>C (p.Arg647Pro)
c.771-1244C>G
n.406G>C
c.1766G>C (p.Arg589Pro)
n.2115G>C
 dbSNP gnomAD v2 gnomAD v4
15g.39589818G=CA2171400137FSIP1,THBS1c.1940G= (p.Arg647=)
c.771-1244C=
n.406G=
c.1766G= (p.Arg589=)
n.2115G=
15g.39589818G>TCA391670073FSIP1,THBS1c.1940G>T (p.Arg647Leu)
c.771-1244C>A
n.406G>T
c.1766G>T (p.Arg589Leu)
n.2115G>T
15g.39589819T>ACA489672941FSIP1,THBS1c.1941T>A (p.Arg647=)
c.771-1245A>T
n.407T>A
c.1767T>A (p.Arg589=)
n.2116T>A
 dbSNP
15g.39589819T>CCA489672942FSIP1,THBS1c.1941T>C (p.Arg647=)
c.771-1245A>G
n.407T>C
c.1767T>C (p.Arg589=)
n.2116T>C
 dbSNP gnomAD v2 gnomAD v4
15g.39589819T>GCA489672944FSIP1,THBS1c.1941T>G (p.Arg647=)
c.771-1245A>C
n.407T>G
c.1767T>G (p.Arg589=)
n.2116T>G
15g.39589819T=CA2171400138FSIP1,THBS1c.1941T= (p.Arg647=)
c.771-1245A=
n.407T=
c.1767T= (p.Arg589=)
n.2116T=
15g.39589820A>CCA391670074FSIP1,THBS1c.1942A>C (p.Asn648His)
c.771-1246T>G
n.408A>C
c.1768A>C (p.Asn590His)
n.2117A>C
15g.39589820A>GCA391670075FSIP1,THBS1c.1942A>G (p.Asn648Asp)
c.771-1246T>C
n.408A>G
c.1768A>G (p.Asn590Asp)
n.2117A>G
15g.39589820A>TCA391670076FSIP1,THBS1c.1942A>T (p.Asn648Tyr)
c.771-1246T>A
n.408A>T
c.1768A>T (p.Asn590Tyr)
n.2117A>T
15g.39589821A>CCA391670077FSIP1,THBS1c.1943A>C (p.Asn648Thr)
c.771-1247T>G
n.409A>C
c.1769A>C (p.Asn590Thr)
n.2118A>C
15g.39589821A>GCA391670079FSIP1,THBS1c.1943A>G (p.Asn648Ser)
c.771-1247T>C
n.409A>G
c.1769A>G (p.Asn590Ser)
n.2118A>G
15g.39589821A>TCA391670078FSIP1,THBS1c.1943A>T (p.Asn648Ile)
c.771-1247T>A
n.409A>T
c.1769A>T (p.Asn590Ile)
n.2118A>T
15g.39589822C>ACA391670080FSIP1,THBS1c.1944C>A (p.Asn648Lys)
c.771-1248G>T
n.410C>A
c.1770C>A (p.Asn590Lys)
n.2119C>A
 gnomAD v4
15g.39589822C>GCA391670081FSIP1,THBS1c.1944C>G (p.Asn648Lys)
c.771-1248G>C
n.410C>G
c.1770C>G (p.Asn590Lys)
n.2119C>G
15g.39589822C>TCA489672955FSIP1,THBS1c.1944C>T (p.Asn648=)
c.771-1248G>A
n.410C>T
c.1770C>T (p.Asn590=)
n.2119C>T
15g.39589823C>ACA391670082FSIP1,THBS1c.1945C>A (p.Pro649Thr)
c.771-1249G>T
n.411C>A
c.1771C>A (p.Pro591Thr)
n.2120C>A
 gnomAD v4
15g.39589823C>GCA391670083FSIP1,THBS1c.1945C>G (p.Pro649Ala)
c.771-1249G>C
n.411C>G
c.1771C>G (p.Pro591Ala)
n.2120C>G
15g.39589823C>TCA391670084FSIP1,THBS1c.1945C>T (p.Pro649Ser)
c.771-1249G>A
n.411C>T
c.1771C>T (p.Pro591Ser)
n.2120C>T
 gnomAD v4
15g.39589824C>ACA391670085FSIP1,THBS1c.1946C>A (p.Pro649His)
c.771-1250G>T
n.412C>A
c.1772C>A (p.Pro591His)
n.2121C>A
15g.39589824C>GCA391670086FSIP1,THBS1c.1946C>G (p.Pro649Arg)
c.771-1250G>C
n.412C>G
c.1772C>G (p.Pro591Arg)
n.2121C>G
15g.39589824C>TCA391670087FSIP1,THBS1c.1946C>T (p.Pro649Leu)
c.771-1250G>A
n.412C>T
c.1772C>T (p.Pro591Leu)
n.2121C>T
15g.39589825C>ACA489672958FSIP1,THBS1c.1947C>A (p.Pro649=)
c.771-1251G>T
n.413C>A
c.1773C>A (p.Pro591=)
n.2122C>A
15g.39589825C>GCA489672960FSIP1,THBS1c.1947C>G (p.Pro649=)
c.771-1251G>C
n.413C>G
c.1773C>G (p.Pro591=)
n.2122C>G
15g.39589825C>TCA489672963FSIP1,THBS1c.1947C>T (p.Pro649=)
c.771-1251G>A
n.413C>T
c.1773C>T (p.Pro591=)
n.2122C>T
 gnomAD v4
15g.39589826T>ACA391670088FSIP1,THBS1c.1948T>A (p.Cys650Ser)
c.771-1252A>T
n.414T>A
c.1774T>A (p.Cys592Ser)
n.2123T>A
15g.39589826T>CCA391670089FSIP1,THBS1c.1948T>C (p.Cys650Arg)
c.771-1252A>G
n.414T>C
c.1774T>C (p.Cys592Arg)
n.2123T>C
15g.39589826T>GCA391670090FSIP1,THBS1c.1948T>G (p.Cys650Gly)
c.771-1252A>C
n.414T>G
c.1774T>G (p.Cys592Gly)
n.2123T>G
15g.39589827G>ACA391670093FSIP1,THBS1c.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
15g.39589827G>CCA391670092FSIP1,THBS1c.1949G>C (p.Cys650Ser)
c.771-1253C>G
n.415G>C
c.1775G>C (p.Cys592Ser)
n.2124G>C
15g.39589827G=CA2171400139FSIP1,THBS1c.1949G= (p.Cys650=)
c.771-1253C=
n.415G=
c.1775G= (p.Cys592=)
n.2124G=
15g.39589827G>TCA391670091FSIP1,THBS1c.1949G>T (p.Cys650Phe)
c.771-1253C>A
n.415G>T
c.1775G>T (p.Cys592Phe)
n.2124G>T
15g.39589828C>ACA391670094FSIP1,THBS1c.1950C>A (p.Cys650Ter)
c.771-1254G>T
n.416C>A
c.1776C>A (p.Cys592Ter)
n.2125C>A
 gnomAD v4
15g.39589828C>GCA391670095FSIP1,THBS1c.1950C>G (p.Cys650Trp)
c.771-1254G>C
n.416C>G
c.1776C>G (p.Cys592Trp)
n.2125C>G
15g.39589828C>TCA489672990FSIP1,THBS1c.1950C>T (p.Cys650=)
c.771-1254G>A
n.416C>T
c.1776C>T (p.Cys592=)
n.2125C>T
15g.39589829A=CA2171400140FSIP1,THBS1c.1951A= (p.Thr651=)
c.771-1255T=
n.417A=
c.1777A= (p.Thr593=)
n.2126A=
15g.39589829A>CCA391670096FSIP1,THBS1c.1951A>C (p.Thr651Pro)
c.771-1255T>G
n.417A>C
c.1777A>C (p.Thr593Pro)
n.2126A>C
15g.39589829A>GCA391670097FSIP1,THBS1c.1951A>G (p.Thr651Ala)
c.771-1255T>C
n.417A>G
c.1777A>G (p.Thr593Ala)
n.2126A>G
15g.39589829A>TCA391670098FSIP1,THBS1c.1951A>T (p.Thr651Ser)
c.771-1255T>A
n.417A>T
c.1777A>T (p.Thr593Ser)
n.2126A>T
15g.39589830C>ACA391670099FSIP1,THBS1c.1952C>A (p.Thr651Lys)
c.771-1256G>T
n.418C>A
c.1778C>A (p.Thr593Lys)
n.2127C>A
15g.39589830C=CA2171400141FSIP1,THBS1c.1952C= (p.Thr651=)
c.771-1256G=
n.418C=
c.1778C= (p.Thr593=)
n.2127C=
15g.39589830C>GCA391670100FSIP1,THBS1c.1952C>G (p.Thr651Arg)
c.771-1256G>C
n.418C>G
c.1778C>G (p.Thr593Arg)
n.2127C>G
15g.39589830C>TCA7472114FSIP1,THBS1c.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
15g.39589830_39589831insATCCA617556057FSIP1,THBS1c.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
15g.39589831G>ACA7472115FSIP1,THBS1c.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
15g.39589831G>CCA489672997FSIP1,THBS1c.1953G>C (p.Thr651=)
c.771-1257C>G
n.419G>C
c.1779G>C (p.Thr593=)
n.2128G>C
15g.39589831G=CA2171400142FSIP1,THBS1c.1953G= (p.Thr651=)
c.771-1257C=
n.419G=
c.1779G= (p.Thr593=)
n.2128G=
15g.39589831G>TCA489672999FSIP1,THBS1c.1953G>T (p.Thr651=)
c.771-1257C>A
n.419G>T
c.1779G>T (p.Thr593=)
n.2128G>T
 COSMIC
15g.39589832G>ACA391670101FSIP1,THBS1c.1954G>A (p.Asp652Asn)
c.771-1258C>T
n.420G>A
c.1780G>A (p.Asp594Asn)
n.2129G>A
15g.39589832G>CCA391670102FSIP1,THBS1c.1954G>C (p.Asp652His)
c.771-1258C>G
n.420G>C
c.1780G>C (p.Asp594His)
n.2129G>C
15g.39589832G>TCA391670103FSIP1,THBS1c.1954G>T (p.Asp652Tyr)
c.771-1258C>A
n.420G>T
c.1780G>T (p.Asp594Tyr)
n.2129G>T
15g.39589833A>CCA391670105FSIP1,THBS1c.1955A>C (p.Asp652Ala)
c.771-1259T>G
n.421A>C
c.1781A>C (p.Asp594Ala)
n.2130A>C
15g.39589833A>GCA391670106FSIP1,THBS1c.1955A>G (p.Asp652Gly)
c.771-1259T>C
n.421A>G
c.1781A>G (p.Asp594Gly)
n.2130A>G
15g.39589833A>TCA391670104FSIP1,THBS1c.1955A>T (p.Asp652Val)
c.771-1259T>A
n.421A>T
c.1781A>T (p.Asp594Val)
n.2130A>T
15g.39589834T>ACA391670108FSIP1,THBS1c.1956T>A (p.Asp652Glu)
c.771-1260A>T
n.422T>A
c.1782T>A (p.Asp594Glu)
n.2131T>A
15g.39589834T>CCA489673011FSIP1,THBS1c.1956T>C (p.Asp652=)
c.771-1260A>G
n.422T>C
c.1782T>C (p.Asp594=)
n.2131T>C
15g.39589834T>GCA391670107FSIP1,THBS1c.1956T>G (p.Asp652Glu)
c.771-1260A>C
n.422T>G
c.1782T>G (p.Asp594Glu)
n.2131T>G
15g.39589835G>ACA391670109FSIP1,THBS1c.1957G>A (p.Gly653Arg)
c.771-1261C>T
n.423G>A
c.1783G>A (p.Gly595Arg)
n.2132G>A
 dbSNP gnomAD v3
15g.39589835G>CCA391670110FSIP1,THBS1c.1957G>C (p.Gly653Arg)
c.771-1261C>G
n.423G>C
c.1783G>C (p.Gly595Arg)
n.2132G>C
15g.39589835G=CA2171400143FSIP1,THBS1c.1957G= (p.Gly653=)
c.771-1261C=
n.423G=
c.1783G= (p.Gly595=)
n.2132G=
15g.39589835G>TCA391670111FSIP1,THBS1c.1957G>T (p.Gly653Trp)
c.771-1261C>A
n.423G>T
c.1783G>T (p.Gly595Trp)
n.2132G>T
15g.39589836G>ACA391670112FSIP1,THBS1c.1958G>A (p.Gly653Glu)
c.771-1262C>T
n.424G>A
c.1784G>A (p.Gly595Glu)
n.2133G>A
 gnomAD v4
15g.39589836G>CCA391670113FSIP1,THBS1c.1958G>C (p.Gly653Ala)
c.771-1262C>G
n.424G>C
c.1784G>C (p.Gly595Ala)
n.2133G>C
15g.39589836G>TCA391670114FSIP1,THBS1c.1958G>T (p.Gly653Val)
c.771-1262C>A
n.424G>T
c.1784G>T (p.Gly595Val)
n.2133G>T
15g.39589837G>ACA489673024FSIP1,THBS1c.1959G>A (p.Gly653=)
c.771-1263C>T
n.425G>A
c.1785G>A (p.Gly595=)
n.2134G>A
 gnomAD v4
15g.39589837G>CCA489673027FSIP1,THBS1c.1959G>C (p.Gly653=)
c.771-1263C>G
n.425G>C
c.1785G>C (p.Gly595=)
n.2134G>C
15g.39589837G>TCA489673026FSIP1,THBS1c.1959G>T (p.Gly653=)
c.771-1263C>A
n.425G>T
c.1785G>T (p.Gly595=)
n.2134G>T
15g.39589838A>CCA391670115FSIP1,THBS1c.1960A>C (p.Thr654Pro)
c.771-1264T>G
n.426A>C
c.1786A>C (p.Thr596Pro)
n.2135A>C
15g.39589838A>GCA391670116FSIP1,THBS1c.1960A>G (p.Thr654Ala)
c.771-1264T>C
n.426A>G
c.1786A>G (p.Thr596Ala)
n.2135A>G
15g.39589838A>TCA391670117FSIP1,THBS1c.1960A>T (p.Thr654Ser)
c.771-1264T>A
n.426A>T
c.1786A>T (p.Thr596Ser)
n.2135A>T
 gnomAD v4
15g.39589839C>ACA391670118FSIP1,THBS1c.1961C>A (p.Thr654Asn)
c.771-1265G>T
n.427C>A
c.1787C>A (p.Thr596Asn)
n.2136C>A
15g.39589839C>GCA391670119FSIP1,THBS1c.1961C>G (p.Thr654Ser)
c.771-1265G>C
n.427C>G
c.1787C>G (p.Thr596Ser)
n.2136C>G
 gnomAD v4
15g.39589839C>TCA391670120FSIP1,THBS1c.1961C>T (p.Thr654Ile)
c.771-1265G>A
n.427C>T
c.1787C>T (p.Thr596Ile)
n.2136C>T
15g.39589840C>ACA489673037FSIP1,THBS1c.1962C>A (p.Thr654=)
c.771-1266G>T
n.428C>A
c.1788C>A (p.Thr596=)
n.2137C>A
15g.39589840C=CA2171400144FSIP1,THBS1c.1962C= (p.Thr654=)
c.771-1266G=
n.428C=
c.1788C= (p.Thr596=)
n.2137C=
15g.39589840C>GCA489673046FSIP1,THBS1c.1962C>G (p.Thr654=)
c.771-1266G>C
n.428C>G
c.1788C>G (p.Thr596=)
n.2137C>G
 dbSNP gnomAD v4
15g.39589840C>TCA489673049FSIP1,THBS1c.1962C>T (p.Thr654=)
c.771-1266G>A
n.428C>T
c.1788C>T (p.Thr596=)
n.2137C>T
 dbSNP gnomAD v4
15g.39589841C>ACA391670123FSIP1,THBS1c.1963C>A (p.His655Asn)
c.771-1267G>T
n.429C>A
c.1789C>A (p.His597Asn)
n.2138C>A
15g.39589841C>GCA391670121FSIP1,THBS1c.1963C>G (p.His655Asp)
c.771-1267G>C
n.429C>G
c.1789C>G (p.His597Asp)
n.2138C>G
15g.39589841C>TCA391670122FSIP1,THBS1c.1963C>T (p.His655Tyr)
c.771-1267G>A
n.429C>T
c.1789C>T (p.His597Tyr)
n.2138C>T
 gnomAD v4
15g.39589842A>CCA391670124FSIP1,THBS1c.1964A>C (p.His655Pro)
c.771-1268T>G
n.430A>C
c.1790A>C (p.His597Pro)
n.2139A>C
15g.39589842A>GCA391670125FSIP1,THBS1c.1964A>G (p.His655Arg)
c.771-1268T>C
n.430A>G
c.1790A>G (p.His597Arg)
n.2139A>G
 gnomAD v4
15g.39589842A>TCA391670126FSIP1,THBS1c.1964A>T (p.His655Leu)
c.771-1268T>A
n.430A>T
c.1790A>T (p.His597Leu)
n.2139A>T
15g.39589843C>ACA391670127FSIP1,THBS1c.1965C>A (p.His655Gln)
c.771-1269G>T
n.431C>A
c.1791C>A (p.His597Gln)
n.2140C>A
15g.39589843C=CA2171400145FSIP1,THBS1c.1965C= (p.His655=)
c.771-1269G=
n.431C=
c.1791C= (p.His597=)
n.2140C=
15g.39589843C>GCA391670128FSIP1,THBS1c.1965C>G (p.His655Gln)
c.771-1269G>C
n.431C>G
c.1791C>G (p.His597Gln)
n.2140C>G
15g.39589843C>TCA7472116FSIP1,THBS1c.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
15g.39589844G>ACA7472117FSIP1,THBS1c.1966G>A (p.Asp656Asn)
c.771-1270C>T
c.1792G>A (p.Asp598Asn)
n.2141G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.39589844G>CCA391670129FSIP1,THBS1c.1966G>C (p.Asp656His)
c.771-1270C>G
c.1792G>C (p.Asp598His)
n.2141G>C
15g.39589844G=CA2171400146FSIP1,THBS1c.1966G= (p.Asp656=)
c.771-1270C=
c.1792G= (p.Asp598=)
n.2141G=
15g.39589844G>TCA391670130FSIP1,THBS1c.1966G>T (p.Asp656Tyr)
c.771-1270C>A
c.1792G>T (p.Asp598Tyr)
n.2141G>T
 gnomAD v4
15g.39589845A>CCA391670131FSIP1,THBS1c.1967A>C (p.Asp656Ala)
c.771-1271T>G
c.1793A>C (p.Asp598Ala)
n.2142A>C
15g.39589845A>GCA391670132FSIP1,THBS1c.1967A>G (p.Asp656Gly)
c.771-1271T>C
c.1793A>G (p.Asp598Gly)
n.2142A>G
15g.39589845A>TCA391670133FSIP1,THBS1c.1967A>T (p.Asp656Val)
c.771-1271T>A
c.1793A>T (p.Asp598Val)
n.2142A>T
15g.39589846C>ACA391670135FSIP1,THBS1c.1968C>A (p.Asp656Glu)
c.771-1272G>T
c.1794C>A (p.Asp598Glu)
n.2143C>A
15g.39589846C>GCA391670134FSIP1,THBS1c.1968C>G (p.Asp656Glu)
c.771-1272G>C
c.1794C>G (p.Asp598Glu)
n.2143C>G
15g.39589846C>TCA489673058FSIP1,THBS1c.1968C>T (p.Asp656=)
c.771-1272G>A
c.1794C>T (p.Asp598=)
n.2143C>T
 gnomAD v4
15g.39589847T>ACA391670136FSIP1,THBS1c.1969T>A (p.Cys657Ser)
c.771-1273A>T
c.1795T>A (p.Cys599Ser)
n.2144T>A
15g.39589847T>CCA391670137FSIP1,THBS1c.1969T>C (p.Cys657Arg)
c.771-1273A>G
c.1795T>C (p.Cys599Arg)
n.2144T>C
15g.39589847T>GCA391670138FSIP1,THBS1c.1969T>G (p.Cys657Gly)
c.771-1273A>C
c.1795T>G (p.Cys599Gly)
n.2144T>G
15g.39589848G>ACA391670139FSIP1,THBS1c.1970G>A (p.Cys657Tyr)
c.771-1274C>T
c.1796G>A (p.Cys599Tyr)
n.2145G>A
15g.39589848G>CCA391670140FSIP1,THBS1c.1970G>C (p.Cys657Ser)
c.771-1274C>G
c.1796G>C (p.Cys599Ser)
n.2145G>C
15g.39589848G>TCA391670141FSIP1,THBS1c.1970G>T (p.Cys657Phe)
c.771-1274C>A
c.1796G>T (p.Cys599Phe)
n.2145G>T
 COSMIC
15g.39589849C>ACA391670142FSIP1,THBS1c.1971C>A (p.Cys657Ter)
c.771-1275G>T
c.1797C>A (p.Cys599Ter)
n.2146C>A
15g.39589849C>GCA391670143FSIP1,THBS1c.1971C>G (p.Cys657Trp)
c.771-1275G>C
c.1797C>G (p.Cys599Trp)
n.2146C>G
15g.39589849C>TCA489673067FSIP1,THBS1c.1971C>T (p.Cys657=)
c.771-1275G>A
c.1797C>T (p.Cys599=)
n.2146C>T
15g.39589850A>CCA391670144FSIP1,THBS1c.1972A>C (p.Asn658His)
c.771-1276T>G
c.1798A>C (p.Asn600His)
n.2147A>C
15g.39589850A>GCA391670145FSIP1,THBS1c.1972A>G (p.Asn658Asp)
c.771-1276T>C
c.1798A>G (p.Asn600Asp)
n.2147A>G
15g.39589850A>TCA391670146FSIP1,THBS1c.1972A>T (p.Asn658Tyr)
c.771-1276T>A
c.1798A>T (p.Asn600Tyr)
n.2147A>T
15g.39589851A>CCA391670147FSIP1,THBS1c.1973A>C (p.Asn658Thr)
c.771-1277T>G
c.1799A>C (p.Asn600Thr)
n.2148A>C
15g.39589851A>GCA391670148FSIP1,THBS1c.1973A>G (p.Asn658Ser)
c.771-1277T>C
c.1799A>G (p.Asn600Ser)
n.2148A>G
15g.39589851A>TCA391670149FSIP1,THBS1c.1973A>T (p.Asn658Ile)
c.771-1277T>A
c.1799A>T (p.Asn600Ile)
n.2148A>T
15g.39589852C>ACA391670151FSIP1,THBS1c.1974C>A (p.Asn658Lys)
c.771-1278G>T
c.1800C>A (p.Asn600Lys)
n.2149C>A
15g.39589852C>GCA391670150FSIP1,THBS1c.1974C>G (p.Asn658Lys)
c.771-1278G>C
c.1800C>G (p.Asn600Lys)
n.2149C>G
15g.39589852C>TCA489673076FSIP1,THBS1c.1974C>T (p.Asn658=)
c.771-1278G>A
c.1800C>T (p.Asn600=)
n.2149C>T
 gnomAD v4
15g.39589853A>CCA391670152FSIP1,THBS1c.1975A>C (p.Lys659Gln)
c.771-1279T>G
c.1801A>C (p.Lys601Gln)
n.2150A>C
15g.39589853A>GCA391670153FSIP1,THBS1c.1975A>G (p.Lys659Glu)
c.771-1279T>C
c.1801A>G (p.Lys601Glu)
n.2150A>G
15g.39589853A>TCA391670154FSIP1,THBS1c.1975A>T (p.Lys659Ter)
c.771-1279T>A
c.1801A>T (p.Lys601Ter)
n.2150A>T
15g.39589854A>CCA391670155FSIP1,THBS1c.1976A>C (p.Lys659Thr)
c.771-1280T>G
c.1802A>C (p.Lys601Thr)
n.2151A>C
15g.39589854A>GCA391670156FSIP1,THBS1c.1976A>G (p.Lys659Arg)
c.771-1280T>C
c.1802A>G (p.Lys601Arg)
n.2151A>G
15g.39589854A>TCA391670157FSIP1,THBS1c.1976A>T (p.Lys659Met)
c.771-1280T>A
c.1802A>T (p.Lys601Met)
n.2151A>T
15g.39589855G>ACA489673094FSIP1,THBS1c.1977G>A (p.Lys659=)
c.771-1281C>T
c.1803G>A (p.Lys601=)
n.2152G>A
15g.39589855G>CCA391670158FSIP1,THBS1c.1977G>C (p.Lys659Asn)
c.771-1281C>G
c.1803G>C (p.Lys601Asn)
n.2152G>C
15g.39589855G>TCA391670159FSIP1,THBS1c.1977G>T (p.Lys659Asn)
c.771-1281C>A
c.1803G>T (p.Lys601Asn)
n.2152G>T
15g.39589856A>CCA391670160FSIP1,THBS1c.1978A>C (p.Asn660His)
c.771-1282T>G
c.1804A>C (p.Asn602His)
n.2153A>C
15g.39589856A>GCA391670161FSIP1,THBS1c.1978A>G (p.Asn660Asp)
c.771-1282T>C
c.1804A>G (p.Asn602Asp)
n.2153A>G
15g.39589856A>TCA391670162FSIP1,THBS1c.1978A>T (p.Asn660Tyr)
c.771-1282T>A
c.1804A>T (p.Asn602Tyr)
n.2153A>T
15g.39589857A>CCA391670163FSIP1,THBS1c.1979A>C (p.Asn660Thr)
c.771-1283T>G
c.1805A>C (p.Asn602Thr)
n.2154A>C
15g.39589857A>GCA391670164FSIP1,THBS1c.1979A>G (p.Asn660Ser)
c.771-1283T>C
c.1805A>G (p.Asn602Ser)
n.2154A>G
15g.39589857A>TCA391670165FSIP1,THBS1c.1979A>T (p.Asn660Ile)
c.771-1283T>A
c.1805A>T (p.Asn602Ile)
n.2154A>T
15g.39589858C>ACA391670167FSIP1,THBS1c.1980C>A (p.Asn660Lys)
c.771-1284G>T
c.1806C>A (p.Asn602Lys)
n.2155C>A
15g.39589858C=CA2171400147FSIP1,THBS1c.1980C= (p.Asn660=)
c.771-1284G=
c.1806C= (p.Asn602=)
n.2155C=
15g.39589858C>GCA391670166FSIP1,THBS1c.1980C>G (p.Asn660Lys)
c.771-1284G>C
c.1806C>G (p.Asn602Lys)
n.2155C>G
15g.39589858C>TCA7472118FSIP1,THBS1c.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
15g.39589859G>ACA7472119FSIP1,THBS1c.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
15g.39589859G>CCA391670168FSIP1,THBS1c.1981G>C (p.Ala661Pro)
c.771-1285C>G
c.1807G>C (p.Ala603Pro)
n.2156G>C
15g.39589859G=CA2171400148FSIP1,THBS1c.1981G= (p.Ala661=)
c.771-1285C=
c.1807G= (p.Ala603=)
n.2156G=
15g.39589859G>TCA391670169FSIP1,THBS1c.1981G>T (p.Ala661Ser)
c.771-1285C>A
c.1807G>T (p.Ala603Ser)
n.2156G>T
15g.39589860C>ACA391670170FSIP1,THBS1c.1982C>A (p.Ala661Asp)
c.771-1286G>T
c.1808C>A (p.Ala603Asp)
n.2157C>A
15g.39589860C>GCA391670171FSIP1,THBS1c.1982C>G (p.Ala661Gly)
c.771-1286G>C
c.1808C>G (p.Ala603Gly)
n.2157C>G
15g.39589860C>TCA391670172FSIP1,THBS1c.1982C>T (p.Ala661Val)
c.771-1286G>A
c.1808C>T (p.Ala603Val)
n.2157C>T
15g.39589861C>ACA489673114FSIP1,THBS1c.1983C>A (p.Ala661=)
c.771-1287G>T
c.1809C>A (p.Ala603=)
n.2158C>A
15g.39589861C>GCA489673116FSIP1,THBS1c.1983C>G (p.Ala661=)
c.771-1287G>C
c.1809C>G (p.Ala603=)
n.2158C>G
15g.39589861C>TCA489673118FSIP1,THBS1c.1983C>T (p.Ala661=)
c.771-1287G>A
c.1809C>T (p.Ala603=)
n.2158C>T
 gnomAD v4
15g.39589862A>CCA391670173FSIP1,THBS1c.1984A>C (p.Lys662Gln)
c.771-1288T>G
c.1810A>C (p.Lys604Gln)
n.2159A>C
15g.39589862A>GCA391670174FSIP1,THBS1c.1984A>G (p.Lys662Glu)
c.771-1288T>C
c.1810A>G (p.Lys604Glu)
n.2159A>G
15g.39589862A>TCA391670175FSIP1,THBS1c.1984A>T (p.Lys662Ter)
c.771-1288T>A
c.1810A>T (p.Lys604Ter)
n.2159A>T
15g.39589863A>CCA391670176FSIP1,THBS1c.1985A>C (p.Lys662Thr)
c.771-1289T>G
c.1811A>C (p.Lys604Thr)
n.2160A>C
15g.39589863A>GCA391670177FSIP1,THBS1c.1985A>G (p.Lys662Arg)
c.771-1289T>C
c.1811A>G (p.Lys604Arg)
n.2160A>G
15g.39589863A>TCA391670178FSIP1,THBS1c.1985A>T (p.Lys662Met)
c.771-1289T>A
c.1811A>T (p.Lys604Met)
n.2160A>T
15g.39589864G>ACA489673132FSIP1,THBS1c.1986G>A (p.Lys662=)
c.771-1290C>T
c.1812G>A (p.Lys604=)
n.2161G>A
 gnomAD v4
15g.39589864G>CCA391670179FSIP1,THBS1c.1986G>C (p.Lys662Asn)
c.771-1290C>G
c.1812G>C (p.Lys604Asn)
n.2161G>C
15g.39589864G>TCA391670180FSIP1,THBS1c.1986G>T (p.Lys662Asn)
c.771-1290C>A
c.1812G>T (p.Lys604Asn)
n.2161G>T
15g.39589865T>ACA391670183FSIP1,THBS1c.1987T>A (p.Cys663Ser)
c.771-1291A>T
c.1813T>A (p.Cys605Ser)
n.2162T>A
15g.39589865T>CCA391670182FSIP1,THBS1c.1987T>C (p.Cys663Arg)
c.771-1291A>G
c.1813T>C (p.Cys605Arg)
n.2162T>C
15g.39589865T>GCA391670181FSIP1,THBS1c.1987T>G (p.Cys663Gly)
c.771-1291A>C
c.1813T>G (p.Cys605Gly)
n.2162T>G
15g.39589866G>ACA391670184FSIP1,THBS1c.1988G>A (p.Cys663Tyr)
c.771-1292C>T
c.1814G>A (p.Cys605Tyr)
n.2163G>A
15g.39589866G>CCA391670185FSIP1,THBS1c.1988G>C (p.Cys663Ser)
c.771-1292C>G
c.1814G>C (p.Cys605Ser)
n.2163G>C
 gnomAD v4
15g.39589866G>TCA391670186FSIP1,THBS1c.1988G>T (p.Cys663Phe)
c.771-1292C>A
c.1814G>T (p.Cys605Phe)
n.2163G>T
15g.39589867C>ACA391670187FSIP1,THBS1c.1989C>A (p.Cys663Ter)
c.771-1293G>T
c.1815C>A (p.Cys605Ter)
n.2164C>A
15g.39589867C>GCA391670188FSIP1,THBS1c.1989C>G (p.Cys663Trp)
c.771-1293G>C
c.1815C>G (p.Cys605Trp)
n.2164C>G
15g.39589867C>TCA489673149FSIP1,THBS1c.1989C>T (p.Cys663=)
c.771-1293G>A
c.1815C>T (p.Cys605=)
n.2164C>T
15g.39589868A>CCA391670189FSIP1,THBS1c.1990A>C (p.Asn664His)
c.771-1294T>G
c.1816A>C (p.Asn606His)
n.2165A>C
15g.39589868A>GCA391670190FSIP1,THBS1c.1990A>G (p.Asn664Asp)
c.771-1294T>C
c.1816A>G (p.Asn606Asp)
n.2165A>G
15g.39589868A>TCA391670191FSIP1,THBS1c.1990A>T (p.Asn664Tyr)
c.771-1294T>A
c.1816A>T (p.Asn606Tyr)
n.2165A>T
15g.39589869A>CCA391670192FSIP1,THBS1c.1991A>C (p.Asn664Thr)
c.771-1295T>G
c.1817A>C (p.Asn606Thr)
n.2166A>C
15g.39589869A>GCA391670193FSIP1,THBS1c.1991A>G (p.Asn664Ser)
c.771-1295T>C
c.1817A>G (p.Asn606Ser)
n.2166A>G
15g.39589869A>TCA391670194FSIP1,THBS1c.1991A>T (p.Asn664Ile)
c.771-1295T>A
c.1817A>T (p.Asn606Ile)
n.2166A>T
15g.39589870C>ACA391670195FSIP1,THBS1c.1992C>A (p.Asn664Lys)
c.771-1296G>T
c.1818C>A (p.Asn606Lys)
n.2167C>A
15g.39589870C>GCA391670196FSIP1,THBS1c.1992C>G (p.Asn664Lys)
c.771-1296G>C
c.1818C>G (p.Asn606Lys)
n.2167C>G
15g.39589870C>TCA489673158FSIP1,THBS1c.1992C>T (p.Asn664=)
c.771-1296G>A
c.1818C>T (p.Asn606=)
n.2167C>T
15g.39589871T>ACA391670198FSIP1,THBS1c.1993T>A (p.Tyr665Asn)
c.771-1297A>T
c.1819T>A (p.Tyr607Asn)
n.2168T>A
15g.39589871T>CCA7472120FSIP1,THBS1c.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
15g.39589871T>GCA391670197FSIP1,THBS1c.1993T>G (p.Tyr665Asp)
c.771-1297A>C
c.1819T>G (p.Tyr607Asp)
n.2168T>G
15g.39589871T=CA2171400149FSIP1,THBS1c.1993T= (p.Tyr665=)
c.771-1297A=
c.1819T= (p.Tyr607=)
n.2168T=
15g.39589872A>CCA391670201FSIP1,THBS1c.1994A>C (p.Tyr665Ser)
c.771-1298T>G
c.1820A>C (p.Tyr607Ser)
n.2169A>C
15g.39589872A>GCA391670199FSIP1,THBS1c.1994A>G (p.Tyr665Cys)
c.771-1298T>C
c.1820A>G (p.Tyr607Cys)
n.2169A>G
15g.39589872A>TCA391670200FSIP1,THBS1c.1994A>T (p.Tyr665Phe)
c.771-1298T>A
c.1820A>T (p.Tyr607Phe)
n.2169A>T
15g.39589873C>ACA391670202FSIP1,THBS1c.1995C>A (p.Tyr665Ter)
c.771-1299G>T
c.1821C>A (p.Tyr607Ter)
n.2170C>A
15g.39589873C>GCA391670203FSIP1,THBS1c.1995C>G (p.Tyr665Ter)
c.771-1299G>C
c.1821C>G (p.Tyr607Ter)
n.2170C>G
15g.39589873C>TCA489673170FSIP1,THBS1c.1995C>T (p.Tyr665=)
c.771-1299G>A
c.1821C>T (p.Tyr607=)
n.2170C>T
 gnomAD v4
15g.39589874C>ACA391670204FSIP1,THBS1c.1996C>A (p.Leu666Met)
c.771-1300G>T
c.1822C>A (p.Leu608Met)
n.2171C>A
15g.39589874C>GCA391670205FSIP1,THBS1c.1996C>G (p.Leu666Val)
c.771-1300G>C
c.1822C>G (p.Leu608Val)
n.2171C>G
 gnomAD v4
15g.39589874C>TCA489673176FSIP1,THBS1c.1996C>T (p.Leu666=)
c.771-1300G>A
c.1822C>T (p.Leu608=)
n.2171C>T
15g.39589875T>ACA391670206FSIP1,THBS1c.1997T>A (p.Leu666Gln)
c.771-1301A>T
c.1823T>A (p.Leu608Gln)
n.2172T>A
15g.39589875T>CCA391670207FSIP1,THBS1c.1997T>C (p.Leu666Pro)
c.771-1301A>G
c.1823T>C (p.Leu608Pro)
n.2172T>C
15g.39589875T>GCA391670208FSIP1,THBS1c.1997T>G (p.Leu666Arg)
c.771-1301A>C
c.1823T>G (p.Leu608Arg)
n.2172T>G
15g.39589876G>ACA489673181FSIP1,THBS1c.1998G>A (p.Leu666=)
c.771-1302C>T
c.1824G>A (p.Leu608=)
n.2173G>A
 COSMIC
15g.39589876G>CCA489673186FSIP1,THBS1c.1998G>C (p.Leu666=)
c.771-1302C>G
c.1824G>C (p.Leu608=)
n.2173G>C
15g.39589876G>TCA489673184FSIP1,THBS1c.1998G>T (p.Leu666=)
c.771-1302C>A
c.1824G>T (p.Leu608=)
n.2173G>T
15g.39589877G>ACA391670209FSIP1,THBS1c.1999G>A (p.Gly667Ser)
c.771-1303C>T
c.1825G>A (p.Gly609Ser)
n.2174G>A
15g.39589877G>CCA391670210FSIP1,THBS1c.1999G>C (p.Gly667Arg)
c.771-1303C>G
c.1825G>C (p.Gly609Arg)
n.2174G>C
15g.39589877G>TCA391670211FSIP1,THBS1c.1999G>T (p.Gly667Cys)
c.771-1303C>A
c.1825G>T (p.Gly609Cys)
n.2174G>T
15g.39589878G>ACA391670213FSIP1,THBS1c.2000G>A (p.Gly667Asp)
c.771-1304C>T
c.1826G>A (p.Gly609Asp)
n.2175G>A
 gnomAD v4
15g.39589878G>CCA391670214FSIP1,THBS1c.2000G>C (p.Gly667Ala)
c.771-1304C>G
c.1826G>C (p.Gly609Ala)
n.2175G>C
15g.39589878G>TCA391670212FSIP1,THBS1c.2000G>T (p.Gly667Val)
c.771-1304C>A
c.1826G>T (p.Gly609Val)
n.2175G>T
15g.39589879C>ACA489673197FSIP1,THBS1c.2001C>A (p.Gly667=)
c.771-1305G>T
c.1827C>A (p.Gly609=)
n.2176C>A
15g.39589879C>GCA489673199FSIP1,THBS1c.2001C>G (p.Gly667=)
c.771-1305G>C
c.1827C>G (p.Gly609=)
n.2176C>G
15g.39589879C>TCA489673201FSIP1,THBS1c.2001C>T (p.Gly667=)
c.771-1305G>A
c.1827C>T (p.Gly609=)
n.2176C>T

Number of alleles fetched