Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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= | |
15 | g.39589886A= | CA2171400153 | FSIP1,THBS1 | c.2008A= (p.Ser670=) c.771-1312T= c.1834A= (p.Ser612=) n.2183A= | |
15 | g.39589886A>C | CA391670231 | FSIP1,THBS1 | c.2008A>C (p.Ser670Arg) c.771-1312T>G c.1834A>C (p.Ser612Arg) n.2183A>C | dbSNP |
15 | g.39589886A>G | CA391670233 | FSIP1,THBS1 | c.2008A>G (p.Ser670Gly) c.771-1312T>C c.1834A>G (p.Ser612Gly) n.2183A>G | |
15 | g.39589886A>T | CA391670232 | FSIP1,THBS1 | c.2008A>T (p.Ser670Cys) c.771-1312T>A c.1834A>T (p.Ser612Cys) n.2183A>T | |
15 | g.39589887G>A | CA391670234 | FSIP1,THBS1 | c.2009G>A (p.Ser670Asn) c.771-1313C>T c.1835G>A (p.Ser612Asn) n.2184G>A | |
15 | g.39589887G>C | CA391670235 | FSIP1,THBS1 | c.2009G>C (p.Ser670Thr) c.771-1313C>G c.1835G>C (p.Ser612Thr) n.2184G>C | |
15 | g.39589887G>T | CA391670236 | FSIP1,THBS1 | c.2009G>T (p.Ser670Ile) c.771-1313C>A c.1835G>T (p.Ser612Ile) n.2184G>T | |
15 | g.39589888C>A | CA391670237 | FSIP1,THBS1 | c.2010C>A (p.Ser670Arg) c.771-1314G>T c.1836C>A (p.Ser612Arg) n.2185C>A | |
15 | g.39589888C= | CA2171400154 | FSIP1,THBS1 | c.2010C= (p.Ser670=) c.771-1314G= c.1836C= (p.Ser612=) n.2185C= | |
15 | g.39589888C>G | CA391670238 | FSIP1,THBS1 | c.2010C>G (p.Ser670Arg) c.771-1314G>C c.1836C>G (p.Ser612Arg) n.2185C>G | |
15 | g.39589888C>T | CA7472122 | FSIP1,THBS1 | c.2010C>T (p.Ser670=) c.771-1314G>A c.1836C>T (p.Ser612=) n.2185C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.39589889G>A | CA7472123 | FSIP1,THBS1 | c.2011G>A (p.Asp671Asn) c.771-1315C>T c.1837G>A (p.Asp613Asn) n.2186G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.39589889G>C | CA391670239 | FSIP1,THBS1 | c.2011G>C (p.Asp671His) c.771-1315C>G c.1837G>C (p.Asp613His) n.2186G>C | dbSNP |
15 | g.39589889G= | CA2171400155 | FSIP1,THBS1 | c.2011G= (p.Asp671=) c.771-1315C= c.1837G= (p.Asp613=) n.2186G= | |
15 | g.39589889G>T | CA391670240 | FSIP1,THBS1 | c.2011G>T (p.Asp671Tyr) c.771-1315C>A c.1837G>T (p.Asp613Tyr) n.2186G>T | gnomAD v4 |
15 | g.39589890A= | CA2171400156 | FSIP1,THBS1 | c.2012A= (p.Asp671=) c.771-1316T= c.1838A= (p.Asp613=) n.2187A= | |
15 | g.39589890A>C | CA391670241 | FSIP1,THBS1 | c.2012A>C (p.Asp671Ala) c.771-1316T>G c.1838A>C (p.Asp613Ala) n.2187A>C | |
15 | g.39589890A>G | CA391670242 | FSIP1,THBS1 | c.2012A>G (p.Asp671Gly) c.771-1316T>C c.1838A>G (p.Asp613Gly) n.2187A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.39589890A>T | CA391670243 | FSIP1,THBS1 | c.2012A>T (p.Asp671Val) c.771-1316T>A c.1838A>T (p.Asp613Val) n.2187A>T | |
15 | g.39589891C>A | CA391670244 | FSIP1,THBS1 | c.2013C>A (p.Asp671Glu) c.771-1317G>T c.1839C>A (p.Asp613Glu) n.2188C>A | gnomAD v4 |