Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
6 | g.7582934_7587655del | CA2695202641 | |||
6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
6 | g.7584977_7584979dup | CA2677220612 | DSP | c.6386_6388dup (p.Ser2129_Met2130insSer) c.7715_7717dup (p.Ser2572_Met2573insSer) c.5918_5920dup (p.Ser1973_Met1974insSer) | gnomAD v4 |
6 | g.7584972C>A | CA362693607 | DSP | c.6381C>A (p.Ser2127Arg) c.7710C>A (p.Ser2570Arg) c.5913C>A (p.Ser1971Arg) | |
6 | g.7584972C>G | CA362693608 | DSP | c.6381C>G (p.Ser2127Arg) c.7710C>G (p.Ser2570Arg) c.5913C>G (p.Ser1971Arg) | |
6 | g.7584972C>T | CA448716294 | DSP | c.6381C>T (p.Ser2127=) c.7710C>T (p.Ser2570=) c.5913C>T (p.Ser1971=) | |
6 | g.7584973A>C | CA362693609 | DSP | c.6382A>C (p.Ser2128Arg) c.7711A>C (p.Ser2571Arg) c.5914A>C (p.Ser1972Arg) | |
6 | g.7584973A>G | CA362693610 | DSP | c.6382A>G (p.Ser2128Gly) c.7711A>G (p.Ser2571Gly) c.5914A>G (p.Ser1972Gly) | |
6 | g.7584973A>T | CA362693611 | DSP | c.6382A>T (p.Ser2128Cys) c.7711A>T (p.Ser2571Cys) c.5914A>T (p.Ser1972Cys) | |
6 | g.7584974G>A | CA362693612 | DSP | c.6383G>A (p.Ser2128Asn) c.7712G>A (p.Ser2571Asn) c.5915G>A (p.Ser1972Asn) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7584974G>C | CA362693613 | DSP | c.6383G>C (p.Ser2128Thr) c.7712G>C (p.Ser2571Thr) c.5915G>C (p.Ser1972Thr) | |
6 | g.7584974G= | CA1608612867 | DSP | c.6383G= (p.Ser2128=) c.7712G= (p.Ser2571=) c.5915G= (p.Ser1972=) | |
6 | g.7584974G>T | CA362693614 | DSP | c.6383G>T (p.Ser2128Ile) c.7712G>T (p.Ser2571Ile) c.5915G>T (p.Ser1972Ile) | |
6 | g.7584975C>A | CA362693615 | DSP | c.6384C>A (p.Ser2128Arg) c.7713C>A (p.Ser2571Arg) c.5916C>A (p.Ser1972Arg) | |
6 | g.7584975C>G | CA362693616 | DSP | c.6384C>G (p.Ser2128Arg) c.7713C>G (p.Ser2571Arg) c.5916C>G (p.Ser1972Arg) | ClinVar dbSNP |
6 | g.7584975C>T | CA448716308 | DSP | c.6384C>T (p.Ser2128=) c.7713C>T (p.Ser2571=) c.5916C>T (p.Ser1972=) | gnomAD v4 |
6 | g.7584976A>C | CA362693618 | DSP | c.6385A>C (p.Ser2129Arg) c.7714A>C (p.Ser2572Arg) c.5917A>C (p.Ser1973Arg) | |
6 | g.7584976A>G | CA362693619 | DSP | c.6385A>G (p.Ser2129Gly) c.7714A>G (p.Ser2572Gly) c.5917A>G (p.Ser1973Gly) | gnomAD v4 |
6 | g.7584976A>T | CA362693617 | DSP | c.6385A>T (p.Ser2129Cys) c.7714A>T (p.Ser2572Cys) c.5917A>T (p.Ser1973Cys) | |
6 | g.7584977G>A | CA362693620 | DSP | c.6386G>A (p.Ser2129Asn) c.7715G>A (p.Ser2572Asn) c.5918G>A (p.Ser1973Asn) | |
6 | g.7584977G>C | CA362693621 | DSP | c.6386G>C (p.Ser2129Thr) c.7715G>C (p.Ser2572Thr) c.5918G>C (p.Ser1973Thr) | |
6 | g.7584977G>T | CA362693622 | DSP | c.6386G>T (p.Ser2129Ile) c.7715G>T (p.Ser2572Ile) c.5918G>T (p.Ser1973Ile) | |
6 | g.7584978C>A | CA362693623 | DSP | c.6387C>A (p.Ser2129Arg) c.7716C>A (p.Ser2572Arg) c.5919C>A (p.Ser1973Arg) | |
6 | g.7584978C= | CA1608612876 | DSP | c.6387C= (p.Ser2129=) c.7716C= (p.Ser2572=) c.5919C= (p.Ser1973=) | |
6 | g.7584978C>G | CA362693624 | DSP | c.6387C>G (p.Ser2129Arg) c.7716C>G (p.Ser2572Arg) c.5919C>G (p.Ser1973Arg) | |
6 | g.7584978C>T | CA050506 | DSP | c.6387C>T (p.Ser2129=) c.7716C>T (p.Ser2572=) c.5919C>T (p.Ser1973=) | ClinVar dbSNP ExAC gnomAD v2 |
6 | g.7584979A>C | CA362693625 | DSP | c.6388A>C (p.Met2130Leu) c.7717A>C (p.Met2573Leu) c.5920A>C (p.Met1974Leu) | |
6 | g.7584979A>G | CA362693626 | DSP | c.6388A>G (p.Met2130Val) c.7717A>G (p.Met2573Val) c.5920A>G (p.Met1974Val) | |
6 | g.7584979A>T | CA362693627 | DSP | c.6388A>T (p.Met2130Leu) c.7717A>T (p.Met2573Leu) c.5920A>T (p.Met1974Leu) | |
6 | g.7584980T>A | CA362693628 | DSP | c.6389T>A (p.Met2130Lys) c.7718T>A (p.Met2573Lys) c.5921T>A (p.Met1974Lys) | |
6 | g.7584980T>C | CA362693629 | DSP | c.6389T>C (p.Met2130Thr) c.7718T>C (p.Met2573Thr) c.5921T>C (p.Met1974Thr) | ClinVar dbSNP |
6 | g.7584980T>G | CA362693630 | DSP | c.6389T>G (p.Met2130Arg) c.7718T>G (p.Met2573Arg) c.5921T>G (p.Met1974Arg) | |
6 | g.7584980T= | CA1608612882 | DSP | c.6389T= (p.Met2130=) c.7718T= (p.Met2573=) c.5921T= (p.Met1974=) | |
6 | g.7584981G>A | CA362693632 | DSP | c.6390G>A (p.Met2130Ile) c.7719G>A (p.Met2573Ile) c.5922G>A (p.Met1974Ile) | |
6 | g.7584981G>C | CA362693633 | DSP | c.6390G>C (p.Met2130Ile) c.7719G>C (p.Met2573Ile) c.5922G>C (p.Met1974Ile) | |
6 | g.7584981G>T | CA362693631 | DSP | c.6390G>T (p.Met2130Ile) c.7719G>T (p.Met2573Ile) c.5922G>T (p.Met1974Ile) | |
6 | g.7584982G>A | CA362693634 | DSP | c.6391G>A (p.Gly2131Ser) c.7720G>A (p.Gly2574Ser) c.5923G>A (p.Gly1975Ser) | gnomAD v4 |
6 | g.7584982G>C | CA133976469 | DSP | c.6391G>C (p.Gly2131Arg) c.7720G>C (p.Gly2574Arg) c.5923G>C (p.Gly1975Arg) | dbSNP COSMIC |
6 | g.7584982G= | CA1608612888 | DSP | c.6391G= (p.Gly2131=) c.7720G= (p.Gly2574=) c.5923G= (p.Gly1975=) | |
6 | g.7584982G>T | CA362693635 | DSP | c.6391G>T (p.Gly2131Cys) c.7720G>T (p.Gly2574Cys) c.5923G>T (p.Gly1975Cys) | |
6 | g.7584983G>A | CA050515 | DSP | c.6392G>A (p.Gly2131Asp) c.7721G>A (p.Gly2574Asp) c.5924G>A (p.Gly1975Asp) | dbSNP ExAC gnomAD v4 |
6 | g.7584983G>C | CA362693636 | DSP | c.6392G>C (p.Gly2131Ala) c.7721G>C (p.Gly2574Ala) c.5924G>C (p.Gly1975Ala) | dbSNP |
6 | g.7584983G= | CA1608612891 | DSP | c.6392G= (p.Gly2131=) c.7721G= (p.Gly2574=) c.5924G= (p.Gly1975=) | |
6 | g.7584983G>T | CA362693637 | DSP | c.6392G>T (p.Gly2131Val) c.7721G>T (p.Gly2574Val) c.5924G>T (p.Gly1975Val) | |
6 | g.7584984C>A | CA448716325 | DSP | c.6393C>A (p.Gly2131=) c.7722C>A (p.Gly2574=) c.5925C>A (p.Gly1975=) | |
6 | g.7584984C>G | CA448716326 | DSP | c.6393C>G (p.Gly2131=) c.7722C>G (p.Gly2574=) c.5925C>G (p.Gly1975=) | |
6 | g.7584984C>T | CA448716327 | DSP | c.6393C>T (p.Gly2131=) c.7722C>T (p.Gly2574=) c.5925C>T (p.Gly1975=) | |
6 | g.7584985A>C | CA362693638 | DSP | c.6394A>C (p.Ser2132Arg) c.7723A>C (p.Ser2575Arg) c.5926A>C (p.Ser1976Arg) |