| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93874245T>A | CA123033 | PROS1 | c.2031A>T (p.Ter677Tyr) c.1986A>T (p.Ter662Tyr) c.*134A>T (n.*134A>T) n.2199A>T c.1989A>T (p.Ter663Tyr) c.2127A>T (p.Ter709Tyr) c.1638A>T (p.Ter546Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.93874245T>C | CA2503051 | PROS1 | c.2031A>G (p.Ter677=) c.1986A>G (p.Ter662=) c.*134A>G (n.*134A>G) n.2199A>G c.1989A>G (p.Ter663=) c.2127A>G (p.Ter709=) c.1638A>G (p.Ter546=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.93874245T>G | CA353669253 | PROS1 | c.2031A>C (p.Ter677Tyr) c.1986A>C (p.Ter662Tyr) c.*134A>C (n.*134A>C) n.2199A>C c.1989A>C (p.Ter663Tyr) c.2127A>C (p.Ter709Tyr) c.1638A>C (p.Ter546Tyr) | |
| 3 | g.93874245T= | CA1385026895 | PROS1 | c.2031A= (p.Ter677=) c.1986A= (p.Ter662=) c.*134A= (n.*134A=) n.2199A= c.1989A= (p.Ter663=) c.2127A= (p.Ter709=) c.1638A= (p.Ter546=) | |
| 3 | g.93874246dup | CA2666653151 | PROS1 | c.2031dup (n.2031dup) c.1986dup (n.1986dup) c.*134dup (n.*134dup) n.2199dup c.1989dup (n.1989dup) c.2127dup (n.2127dup) c.1638dup (n.1638dup) | gnomAD v4 |
| 3 | g.93874246T>A | CA353669266 | PROS1 | c.2030A>T (p.Ter677Leu) c.1985A>T (p.Ter662Leu) c.*133A>T (n.*133A>T) n.2198A>T c.1988A>T (p.Ter663Leu) c.2126A>T (p.Ter709Leu) c.1637A>T (p.Ter546Leu) | |
| 3 | g.93874246T>C | CA434462765 | PROS1 | c.2030A>G (p.Ter677=) c.1985A>G (p.Ter662=) c.*133A>G (n.*133A>G) n.2198A>G c.1988A>G (p.Ter663=) c.2126A>G (p.Ter709=) c.1637A>G (p.Ter546=) | |
| 3 | g.93874246T>G | CA353669265 | PROS1 | c.2030A>C (p.Ter677Ser) c.1985A>C (p.Ter662Ser) c.*133A>C (n.*133A>C) n.2198A>C c.1988A>C (p.Ter663Ser) c.2126A>C (p.Ter709Ser) c.1637A>C (p.Ter546Ser) | |
| 3 | g.93874247A>C | CA353669274 | PROS1 | c.2029T>G (p.Ter677Glu) c.1984T>G (p.Ter662Glu) c.*132T>G (n.*132T>G) n.2197T>G c.1987T>G (p.Ter663Glu) c.2125T>G (p.Ter709Glu) c.1636T>G (p.Ter546Glu) | |
| 3 | g.93874247A>G | CA353669270 | PROS1 | c.2029T>C (p.Ter677Gln) c.1984T>C (p.Ter662Gln) c.*132T>C (n.*132T>C) n.2197T>C c.1987T>C (p.Ter663Gln) c.2125T>C (p.Ter709Gln) c.1636T>C (p.Ter546Gln) | |
| 3 | g.93874247A>T | CA353669277 | PROS1 | c.2029T>A (p.Ter677Lys) c.1984T>A (p.Ter662Lys) c.*132T>A (n.*132T>A) n.2197T>A c.1987T>A (p.Ter663Lys) c.2125T>A (p.Ter709Lys) c.1636T>A (p.Ter546Lys) | |
| 3 | g.93874248A>C | CA434462766 | PROS1 | c.2028T>G (p.Ser676=) c.1983T>G (p.Ser661=) c.*131T>G (n.*131T>G) n.2196T>G c.1986T>G (p.Ser662=) c.2124T>G (p.Ser708=) c.1635T>G (p.Ser545=) | |
| 3 | g.93874248A>G | CA434462767 | PROS1 | c.2028T>C (p.Ser676=) c.1983T>C (p.Ser661=) c.*131T>C (n.*131T>C) n.2196T>C c.1986T>C (p.Ser662=) c.2124T>C (p.Ser708=) c.1635T>C (p.Ser545=) | |
| 3 | g.93874248A>T | CA434462768 | PROS1 | c.2028T>A (p.Ser676=) c.1983T>A (p.Ser661=) c.*131T>A (n.*131T>A) n.2196T>A c.1986T>A (p.Ser662=) c.2124T>A (p.Ser708=) c.1635T>A (p.Ser545=) | |
| 3 | g.93874249G>A | CA353669283 | PROS1 | c.2027C>T (p.Ser676Phe) c.1982C>T (p.Ser661Phe) c.*130C>T (n.*130C>T) n.2195C>T c.1985C>T (p.Ser662Phe) c.2123C>T (p.Ser708Phe) c.1634C>T (p.Ser545Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.93874249G>C | CA353669284 | PROS1 | c.2027C>G (p.Ser676Cys) c.1982C>G (p.Ser661Cys) c.*130C>G (n.*130C>G) n.2195C>G c.1985C>G (p.Ser662Cys) c.2123C>G (p.Ser708Cys) c.1634C>G (p.Ser545Cys) | |
| 3 | g.93874249G= | CA1385026896 | PROS1 | c.2027C= (p.Ser676=) c.1982C= (p.Ser661=) c.*130C= (n.*130C=) n.2195C= c.1985C= (p.Ser662=) c.2123C= (p.Ser708=) c.1634C= (p.Ser545=) | |
| 3 | g.93874249G>T | CA353669286 | PROS1 | c.2027C>A (p.Ser676Tyr) c.1982C>A (p.Ser661Tyr) c.*130C>A (n.*130C>A) n.2195C>A c.1985C>A (p.Ser662Tyr) c.2123C>A (p.Ser708Tyr) c.1634C>A (p.Ser545Tyr) | |
| 3 | g.93874250A>C | CA353669290 | PROS1 | c.2026T>G (p.Ser676Ala) c.1981T>G (p.Ser661Ala) c.*129T>G (n.*129T>G) n.2194T>G c.1984T>G (p.Ser662Ala) c.2122T>G (p.Ser708Ala) c.1633T>G (p.Ser545Ala) | gnomAD v4 |
| 3 | g.93874250A>G | CA353669294 | PROS1 | c.2026T>C (p.Ser676Pro) c.1981T>C (p.Ser661Pro) c.*129T>C (n.*129T>C) n.2194T>C c.1984T>C (p.Ser662Pro) c.2122T>C (p.Ser708Pro) c.1633T>C (p.Ser545Pro) | |
| 3 | g.93874250A>T | CA353669297 | PROS1 | c.2026T>A (p.Ser676Thr) c.1981T>A (p.Ser661Thr) c.*129T>A (n.*129T>A) n.2194T>A c.1984T>A (p.Ser662Thr) c.2122T>A (p.Ser708Thr) c.1633T>A (p.Ser545Thr) | |
| 3 | g.93874251A>C | CA353669299 | PROS1 | c.2025T>G (p.Asn675Lys) c.1980T>G (p.Asn660Lys) c.*128T>G (n.*128T>G) n.2193T>G c.1983T>G (p.Asn661Lys) c.2121T>G (p.Asn707Lys) c.1632T>G (p.Asn544Lys) | |
| 3 | g.93874251A>G | CA434462769 | PROS1 | c.2025T>C (p.Asn675=) c.1980T>C (p.Asn660=) c.*128T>C (n.*128T>C) n.2193T>C c.1983T>C (p.Asn661=) c.2121T>C (p.Asn707=) c.1632T>C (p.Asn544=) | |
| 3 | g.93874251A>T | CA353669302 | PROS1 | c.2025T>A (p.Asn675Lys) c.1980T>A (p.Asn660Lys) c.*128T>A (n.*128T>A) n.2193T>A c.1983T>A (p.Asn661Lys) c.2121T>A (p.Asn707Lys) c.1632T>A (p.Asn544Lys) | |
| 3 | g.93874252T>A | CA353669305 | PROS1 | c.2024A>T (p.Asn675Ile) c.1979A>T (p.Asn660Ile) c.*127A>T (n.*127A>T) n.2192A>T c.1982A>T (p.Asn661Ile) c.2120A>T (p.Asn707Ile) c.1631A>T (p.Asn544Ile) | |
| 3 | g.93874252T>C | CA353669308 | PROS1 | c.2024A>G (p.Asn675Ser) c.1979A>G (p.Asn660Ser) c.*127A>G (n.*127A>G) n.2192A>G c.1982A>G (p.Asn661Ser) c.2120A>G (p.Asn707Ser) c.1631A>G (p.Asn544Ser) | |
| 3 | g.93874252T>G | CA353669310 | PROS1 | c.2024A>C (p.Asn675Thr) c.1979A>C (p.Asn660Thr) c.*127A>C (n.*127A>C) n.2192A>C c.1982A>C (p.Asn661Thr) c.2120A>C (p.Asn707Thr) c.1631A>C (p.Asn544Thr) | |
| 3 | g.93874254_93874257del | CA2586972671 | PROS1 | c.2021_2024del (p.Lys674IlefsTer12) c.2021_2024del (p.Lys674IlefsTer10) c.1976_1979del (p.Lys659IlefsTer10) c.*124_*127del (n.*124_*127del) n.2189_2192del c.1979_1982del (p.Lys660IlefsTer10) c.2117_2120del (p.Lys706IlefsTer10) c.1628_1631del (p.Lys543IlefsTer10) | |
| 3 | g.93874253T>A | CA353669317 | PROS1 | c.2023A>T (p.Asn675Tyr) c.1978A>T (p.Asn660Tyr) c.*126A>T (n.*126A>T) n.2191A>T c.1981A>T (p.Asn661Tyr) c.2119A>T (p.Asn707Tyr) c.1630A>T (p.Asn544Tyr) | gnomAD v4 |
| 3 | g.93874253T>C | CA353669313 | PROS1 | c.2023A>G (p.Asn675Asp) c.1978A>G (p.Asn660Asp) c.*126A>G (n.*126A>G) n.2191A>G c.1981A>G (p.Asn661Asp) c.2119A>G (p.Asn707Asp) c.1630A>G (p.Asn544Asp) | |
| 3 | g.93874253T>G | CA353669316 | PROS1 | c.2023A>C (p.Asn675His) c.1978A>C (p.Asn660His) c.*126A>C (n.*126A>C) n.2191A>C c.1981A>C (p.Asn661His) c.2119A>C (p.Asn707His) c.1630A>C (p.Asn544His) | |
| 3 | g.93874254C>A | CA2503052 | PROS1 | c.2022G>T (p.Lys674Asn) c.1977G>T (p.Lys659Asn) c.*125G>T (n.*125G>T) n.2190G>T c.1980G>T (p.Lys660Asn) c.2118G>T (p.Lys706Asn) c.1629G>T (p.Lys543Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.93874254C= | CA1385026897 | PROS1 | c.2022G= (p.Lys674=) c.1977G= (p.Lys659=) c.*125G= (n.*125G=) n.2190G= c.1980G= (p.Lys660=) c.2118G= (p.Lys706=) c.1629G= (p.Lys543=) | |
| 3 | g.93874254C>G | CA353669330 | PROS1 | c.2022G>C (p.Lys674Asn) c.1977G>C (p.Lys659Asn) c.*125G>C (n.*125G>C) n.2190G>C c.1980G>C (p.Lys660Asn) c.2118G>C (p.Lys706Asn) c.1629G>C (p.Lys543Asn) | |
| 3 | g.93874254C>T | CA434462770 | PROS1 | c.2022G>A (p.Lys674=) c.1977G>A (p.Lys659=) c.*125G>A (n.*125G>A) n.2190G>A c.1980G>A (p.Lys660=) c.2118G>A (p.Lys706=) c.1629G>A (p.Lys543=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.93874255T>A | CA353669332 | PROS1 | c.2021A>T (p.Lys674Met) c.1976A>T (p.Lys659Met) c.*124A>T (n.*124A>T) n.2189A>T c.1979A>T (p.Lys660Met) c.2117A>T (p.Lys706Met) c.1628A>T (p.Lys543Met) | |
| 3 | g.93874255T>C | CA353669335 | PROS1 | c.2021A>G (p.Lys674Arg) c.1976A>G (p.Lys659Arg) c.*124A>G (n.*124A>G) n.2189A>G c.1979A>G (p.Lys660Arg) c.2117A>G (p.Lys706Arg) c.1628A>G (p.Lys543Arg) | |
| 3 | g.93874255T>G | CA353669336 | PROS1 | c.2021A>C (p.Lys674Thr) c.1976A>C (p.Lys659Thr) c.*124A>C (n.*124A>C) n.2189A>C c.1979A>C (p.Lys660Thr) c.2117A>C (p.Lys706Thr) c.1628A>C (p.Lys543Thr) | |
| 3 | g.93874256_93874257del | CA2586972672 | PROS1 | c.2020_2021del (p.Lys674GlufsTer19) c.2020_2021del (p.Lys674GlufsTer24) c.1975_1976del (p.Lys659GlufsTer24) c.*123_*124del (n.*123_*124del) n.2188_2189del c.1978_1979del (p.Lys660GlufsTer24) c.2116_2117del (p.Lys706GlufsTer24) c.1627_1628del (p.Lys543GlufsTer24) | |
| 3 | g.93874256T>A | CA353669346 | PROS1 | c.2020A>T (p.Lys674Ter) c.1975A>T (p.Lys659Ter) c.*123A>T (n.*123A>T) n.2188A>T c.1978A>T (p.Lys660Ter) c.2116A>T (p.Lys706Ter) c.1627A>T (p.Lys543Ter) | |
| 3 | g.93874256T>C | CA2503053 | PROS1 | c.2020A>G (p.Lys674Glu) c.1975A>G (p.Lys659Glu) c.*123A>G (n.*123A>G) n.2188A>G c.1978A>G (p.Lys660Glu) c.2116A>G (p.Lys706Glu) c.1627A>G (p.Lys543Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.93874256T>G | CA353669352 | PROS1 | c.2020A>C (p.Lys674Gln) c.1975A>C (p.Lys659Gln) c.*123A>C (n.*123A>C) n.2188A>C c.1978A>C (p.Lys660Gln) c.2116A>C (p.Lys706Gln) c.1627A>C (p.Lys543Gln) | |
| 3 | g.93874256T= | CA1385026898 | PROS1 | c.2020A= (p.Lys674=) c.1975A= (p.Lys659=) c.*123A= (n.*123A=) n.2188A= c.1978A= (p.Lys660=) c.2116A= (p.Lys706=) c.1627A= (p.Lys543=) | |
| 3 | g.93874257T>A | CA434462771 | PROS1 | c.2019A>T (p.Thr673=) c.1974A>T (p.Thr658=) c.*122A>T (n.*122A>T) n.2187A>T c.1977A>T (p.Thr659=) c.2115A>T (p.Thr705=) c.1626A>T (p.Thr542=) | |
| 3 | g.93874257T>C | CA434462772 | PROS1 | c.2019A>G (p.Thr673=) c.1974A>G (p.Thr658=) c.*122A>G (n.*122A>G) n.2187A>G c.1977A>G (p.Thr659=) c.2115A>G (p.Thr705=) c.1626A>G (p.Thr542=) | gnomAD v4 |
| 3 | g.93874257T>G | CA434462773 | PROS1 | c.2019A>C (p.Thr673=) c.1974A>C (p.Thr658=) c.*122A>C (n.*122A>C) n.2187A>C c.1977A>C (p.Thr659=) c.2115A>C (p.Thr705=) c.1626A>C (p.Thr542=) | |
| 3 | g.93874258G>A | CA353669355 | PROS1 | c.2018C>T (p.Thr673Ile) c.1973C>T (p.Thr658Ile) c.*121C>T (n.*121C>T) n.2186C>T c.1976C>T (p.Thr659Ile) c.2114C>T (p.Thr705Ile) c.1625C>T (p.Thr542Ile) | gnomAD v4 |
| 3 | g.93874258G>C | CA353669358 | PROS1 | c.2018C>G (p.Thr673Arg) c.1973C>G (p.Thr658Arg) c.*121C>G (n.*121C>G) n.2186C>G c.1976C>G (p.Thr659Arg) c.2114C>G (p.Thr705Arg) c.1625C>G (p.Thr542Arg) | |
| 3 | g.93874258G= | CA1385026899 | PROS1 | c.2018C= (p.Thr673=) c.1973C= (p.Thr658=) c.*121C= (n.*121C=) n.2186C= c.1976C= (p.Thr659=) c.2114C= (p.Thr705=) c.1625C= (p.Thr542=) | |
| 3 | g.93874258G>T | CA353669360 | PROS1 | c.2018C>A (p.Thr673Lys) c.1973C>A (p.Thr658Lys) c.*121C>A (n.*121C>A) n.2186C>A c.1976C>A (p.Thr659Lys) c.2114C>A (p.Thr705Lys) c.1625C>A (p.Thr542Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |