| 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.7584939C>A | CA362693535 | DSP | c.6348C>A (p.Asp2116Glu) c.7677C>A (p.Asp2559Glu) c.5880C>A (p.Asp1960Glu) | |
| 6 | g.7584939C>G | CA362693536 | DSP | c.6348C>G (p.Asp2116Glu) c.7677C>G (p.Asp2559Glu) c.5880C>G (p.Asp1960Glu) | |
| 6 | g.7584939C>T | CA448717046 | DSP | c.6348C>T (p.Asp2116=) c.7677C>T (p.Asp2559=) c.5880C>T (p.Asp1960=) | gnomAD v4 |
| 6 | g.7584940A= | CA1608612732 | DSP | c.6349A= (p.Met2117=) c.7678A= (p.Met2560=) c.5881A= (p.Met1961=) | |
| 6 | g.7584940A>C | CA362693538 | DSP | c.6349A>C (p.Met2117Leu) c.7678A>C (p.Met2560Leu) c.5881A>C (p.Met1961Leu) | gnomAD v4 |
| 6 | g.7584940A>G | CA050425 | DSP | c.6349A>G (p.Met2117Val) c.7678A>G (p.Met2560Val) c.5881A>G (p.Met1961Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584940A>T | CA362693537 | DSP | c.6349A>T (p.Met2117Leu) c.7678A>T (p.Met2560Leu) c.5881A>T (p.Met1961Leu) | |
| 6 | g.7584941T>A | CA362693539 | DSP | c.6350T>A (p.Met2117Lys) c.7679T>A (p.Met2560Lys) c.5882T>A (p.Met1961Lys) | |
| 6 | g.7584941T>C | CA050441 | DSP | c.6350T>C (p.Met2117Thr) c.7679T>C (p.Met2560Thr) c.5882T>C (p.Met1961Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584941T>G | CA362693540 | DSP | c.6350T>G (p.Met2117Arg) c.7679T>G (p.Met2560Arg) c.5882T>G (p.Met1961Arg) | |
| 6 | g.7584941T= | CA1608612734 | DSP | c.6350T= (p.Met2117=) c.7679T= (p.Met2560=) c.5882T= (p.Met1961=) | |
| 6 | g.7584942G>A | CA362693541 | DSP | c.6351G>A (p.Met2117Ile) c.7680G>A (p.Met2560Ile) c.5883G>A (p.Met1961Ile) | |
| 6 | g.7584942G>C | CA362693542 | DSP | c.6351G>C (p.Met2117Ile) c.7680G>C (p.Met2560Ile) c.5883G>C (p.Met1961Ile) | |
| 6 | g.7584942G>T | CA362693543 | DSP | c.6351G>T (p.Met2117Ile) c.7680G>T (p.Met2560Ile) c.5883G>T (p.Met1961Ile) | |
| 6 | g.7584943A>C | CA362693546 | DSP | c.6352A>C (p.Ile2118Leu) c.7681A>C (p.Ile2561Leu) c.5884A>C (p.Ile1962Leu) | |
| 6 | g.7584943A>G | CA362693544 | DSP | c.6352A>G (p.Ile2118Val) c.7681A>G (p.Ile2561Val) c.5884A>G (p.Ile1962Val) | |
| 6 | g.7584943A>T | CA362693545 | DSP | c.6352A>T (p.Ile2118Phe) c.7681A>T (p.Ile2561Phe) c.5884A>T (p.Ile1962Phe) | |
| 6 | g.7584944T>A | CA362693547 | DSP | c.6353T>A (p.Ile2118Asn) c.7682T>A (p.Ile2561Asn) c.5885T>A (p.Ile1962Asn) | dbSNP |
| 6 | g.7584944T>C | CA362693548 | DSP | c.6353T>C (p.Ile2118Thr) c.7682T>C (p.Ile2561Thr) c.5885T>C (p.Ile1962Thr) | |
| 6 | g.7584944T>G | CA362693549 | DSP | c.6353T>G (p.Ile2118Ser) c.7682T>G (p.Ile2561Ser) c.5885T>G (p.Ile1962Ser) | |
| 6 | g.7584944T= | CA1608612738 | DSP | c.6353T= (p.Ile2118=) c.7682T= (p.Ile2561=) c.5885T= (p.Ile1962=) | |
| 6 | g.7584944_7584947delinsTCTC | CA1608612740 | DSP | c.6353_6356delinsTCTC (p.Ile2118=) c.7682_7685delinsTCTC (p.Ile2561=) c.5885_5888delinsTCTC (p.Ile1962=) | |
| 6 | g.7584945C>A | CA448717057 | DSP | c.6354C>A (p.Ile2118=) c.7683C>A (p.Ile2561=) c.5886C>A (p.Ile1962=) | |
| 6 | g.7584945C>G | CA362693550 | DSP | c.6354C>G (p.Ile2118Met) c.7683C>G (p.Ile2561Met) c.5886C>G (p.Ile1962Met) | |
| 6 | g.7584945C>T | CA448717059 | DSP | c.6354C>T (p.Ile2118=) c.7683C>T (p.Ile2561=) c.5886C>T (p.Ile1962=) | |
| 6 | g.7584947_7584949del | CA050453 | DSP | c.6356_6358del (p.Ser2119del) c.7685_7687del (p.Ser2562del) c.5888_5890del (p.Ser1963del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584946T>A | CA362693551 | DSP | c.6355T>A (p.Ser2119Thr) c.7684T>A (p.Ser2562Thr) c.5887T>A (p.Ser1963Thr) | |
| 6 | g.7584946T>C | CA362693552 | DSP | c.6355T>C (p.Ser2119Pro) c.7684T>C (p.Ser2562Pro) c.5887T>C (p.Ser1963Pro) | ClinVar gnomAD v4 |
| 6 | g.7584946T>G | CA362693553 | DSP | c.6355T>G (p.Ser2119Ala) c.7684T>G (p.Ser2562Ala) c.5887T>G (p.Ser1963Ala) | ClinVar |
| 6 | g.7584947C>A | CA362693554 | DSP | c.6356C>A (p.Ser2119Tyr) c.7685C>A (p.Ser2562Tyr) c.5888C>A (p.Ser1963Tyr) | |
| 6 | g.7584947C>G | CA362693555 | DSP | c.6356C>G (p.Ser2119Cys) c.7685C>G (p.Ser2562Cys) c.5888C>G (p.Ser1963Cys) | |
| 6 | g.7584947C>T | CA362693556 | DSP | c.6356C>T (p.Ser2119Phe) c.7685C>T (p.Ser2562Phe) c.5888C>T (p.Ser1963Phe) | |
| 6 | g.7584948C>A | CA448717066 | DSP | c.6357C>A (p.Ser2119=) c.7686C>A (p.Ser2562=) c.5889C>A (p.Ser1963=) | |
| 6 | g.7584948C>G | CA448717069 | DSP | c.6357C>G (p.Ser2119=) c.7686C>G (p.Ser2562=) c.5889C>G (p.Ser1963=) | |
| 6 | g.7584948C>T | CA448717070 | DSP | c.6357C>T (p.Ser2119=) c.7686C>T (p.Ser2562=) c.5889C>T (p.Ser1963=) | gnomAD v4 |
| 6 | g.7584949T>A | CA362693557 | DSP | c.6358T>A (p.Leu2120Met) c.7687T>A (p.Leu2563Met) c.5890T>A (p.Leu1964Met) | |
| 6 | g.7584949T>C | CA448717073 | DSP | c.6358T>C (p.Leu2120=) c.7687T>C (p.Leu2563=) c.5890T>C (p.Leu1964=) | |
| 6 | g.7584949T>G | CA362693558 | DSP | c.6358T>G (p.Leu2120Val) c.7687T>G (p.Leu2563Val) c.5890T>G (p.Leu1964Val) | |
| 6 | g.7584950T>A | CA362693559 | DSP | c.6359T>A (p.Leu2120Ter) c.7688T>A (p.Leu2563Ter) c.5891T>A (p.Leu1964Ter) | |
| 6 | g.7584950T>C | CA362693561 | DSP | c.6359T>C (p.Leu2120Ser) c.7688T>C (p.Leu2563Ser) c.5891T>C (p.Leu1964Ser) | |
| 6 | g.7584950T>G | CA362693560 | DSP | c.6359T>G (p.Leu2120Trp) c.7688T>G (p.Leu2563Trp) c.5891T>G (p.Leu1964Trp) | |
| 6 | g.7584950T= | CA1608612751 | DSP | c.6359T= (p.Leu2120=) c.7688T= (p.Leu2563=) c.5891T= (p.Leu1964=) | |
| 6 | g.7584951G>A | CA448717074 | DSP | c.6360G>A (p.Leu2120=) c.7689G>A (p.Leu2563=) c.5892G>A (p.Leu1964=) | dbSNP |
| 6 | g.7584951G>C | CA362693562 | DSP | c.6360G>C (p.Leu2120Phe) c.7689G>C (p.Leu2563Phe) c.5892G>C (p.Leu1964Phe) | ClinVar |
| 6 | g.7584951G= | CA1608612756 | DSP | c.6360G= (p.Leu2120=) c.7689G= (p.Leu2563=) c.5892G= (p.Leu1964=) | |
| 6 | g.7584951G>T | CA362693563 | DSP | c.6360G>T (p.Leu2120Phe) c.7689G>T (p.Leu2563Phe) c.5892G>T (p.Leu1964Phe) | |
| 6 | g.7584951_7584956dup | CA16612051 | DSP | c.6360_6365dup (p.Lys2121_Asn2122insLysLys) c.7689_7694dup (p.Lys2564_Asn2565insLysLys) c.5892_5897dup (p.Lys1965_Asn1966insLysLys) | ClinVar dbSNP |
| 6 | g.7584952A>C | CA362693564 | DSP | c.6361A>C (p.Lys2121Gln) c.7690A>C (p.Lys2564Gln) c.5893A>C (p.Lys1965Gln) | |
| 6 | g.7584952A>G | CA362693565 | DSP | c.6361A>G (p.Lys2121Glu) c.7690A>G (p.Lys2564Glu) c.5893A>G (p.Lys1965Glu) | |
| 6 | g.7584952A>T | CA362693566 | DSP | c.6361A>T (p.Lys2121Ter) c.7690A>T (p.Lys2564Ter) c.5893A>T (p.Lys1965Ter) | |
| 6 | g.7584953A>C | CA362693567 | DSP | c.6362A>C (p.Lys2121Thr) c.7691A>C (p.Lys2564Thr) c.5894A>C (p.Lys1965Thr) | |
| 6 | g.7584953A>G | CA362693568 | DSP | c.6362A>G (p.Lys2121Arg) c.7691A>G (p.Lys2564Arg) c.5894A>G (p.Lys1965Arg) | |
| 6 | g.7584953A>T | CA362693569 | DSP | c.6362A>T (p.Lys2121Ile) c.7691A>T (p.Lys2564Ile) c.5894A>T (p.Lys1965Ile) | |
| 6 | g.7584954A= | CA1608612762 | DSP | c.6363A= (p.Lys2121=) c.7692A= (p.Lys2564=) c.5895A= (p.Lys1965=) | |
| 6 | g.7584954A>C | CA362693570 | DSP | c.6363A>C (p.Lys2121Asn) c.7692A>C (p.Lys2564Asn) c.5895A>C (p.Lys1965Asn) | dbSNP |
| 6 | g.7584954A>G | CA448717081 | DSP | c.6363A>G (p.Lys2121=) c.7692A>G (p.Lys2564=) c.5895A>G (p.Lys1965=) | |
| 6 | g.7584954A>T | CA362693571 | DSP | c.6363A>T (p.Lys2121Asn) c.7692A>T (p.Lys2564Asn) c.5895A>T (p.Lys1965Asn) | |
| 6 | g.7584955A= | CA1608612773 | DSP | c.6364A= (p.Asn2122=) c.7693A= (p.Asn2565=) c.5896A= (p.Asn1966=) | |
| 6 | g.7584955A>C | CA362693572 | DSP | c.6364A>C (p.Asn2122His) c.7693A>C (p.Asn2565His) c.5896A>C (p.Asn1966His) | |
| 6 | g.7584955A>G | CA362693573 | DSP | c.6364A>G (p.Asn2122Asp) c.7693A>G (p.Asn2565Asp) c.5896A>G (p.Asn1966Asp) | |
| 6 | g.7584955A>T | CA362693574 | DSP | c.6364A>T (p.Asn2122Tyr) c.7693A>T (p.Asn2565Tyr) c.5896A>T (p.Asn1966Tyr) | dbSNP |
| 6 | g.7584956A= | CA1608612782 | DSP | c.6365A= (p.Asn2122=) c.7694A= (p.Asn2565=) c.5897A= (p.Asn1966=) | |
| 6 | g.7584956A>C | CA050463 | DSP | c.6365A>C (p.Asn2122Thr) c.7694A>C (p.Asn2565Thr) c.5897A>C (p.Asn1966Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584956A>G | CA362693575 | DSP | c.6365A>G (p.Asn2122Ser) c.7694A>G (p.Asn2565Ser) c.5897A>G (p.Asn1966Ser) | |
| 6 | g.7584956A>T | CA362693576 | DSP | c.6365A>T (p.Asn2122Ile) c.7694A>T (p.Asn2565Ile) c.5897A>T (p.Asn1966Ile) | |
| 6 | g.7584957T>A | CA362693577 | DSP | c.6366T>A (p.Asn2122Lys) c.7695T>A (p.Asn2565Lys) c.5898T>A (p.Asn1966Lys) | |
| 6 | g.7584957T>C | CA448717086 | DSP | c.6366T>C (p.Asn2122=) c.7695T>C (p.Asn2565=) c.5898T>C (p.Asn1966=) | dbSNP |
| 6 | g.7584957T>G | CA362693578 | DSP | c.6366T>G (p.Asn2122Lys) c.7695T>G (p.Asn2565Lys) c.5898T>G (p.Asn1966Lys) | |
| 6 | g.7584957T= | CA1608612796 | DSP | c.6366T= (p.Asn2122=) c.7695T= (p.Asn2565=) c.5898T= (p.Asn1966=) | |
| 6 | g.7584958G>A | CA362693579 | DSP | c.6367G>A (p.Gly2123Ser) c.7696G>A (p.Gly2566Ser) c.5899G>A (p.Gly1967Ser) | |
| 6 | g.7584958G>C | CA362693580 | DSP | c.6367G>C (p.Gly2123Arg) c.7696G>C (p.Gly2566Arg) c.5899G>C (p.Gly1967Arg) | dbSNP |
| 6 | g.7584958G= | CA1608612806 | DSP | c.6367G= (p.Gly2123=) c.7696G= (p.Gly2566=) c.5899G= (p.Gly1967=) | |
| 6 | g.7584958G>T | CA362693581 | DSP | c.6367G>T (p.Gly2123Cys) c.7696G>T (p.Gly2566Cys) c.5899G>T (p.Gly1967Cys) | dbSNP |
| 6 | g.7584959dup | CA2695206016 | DSP | c.6368dup (p.Val2124CysfsTer14) c.7697dup (p.Val2567CysfsTer14) c.5900dup (p.Val1968CysfsTer14) | |
| 6 | g.7584959G>A | CA362693582 | DSP | c.6368G>A (p.Gly2123Asp) c.7697G>A (p.Gly2566Asp) c.5900G>A (p.Gly1967Asp) | gnomAD v4 |
| 6 | g.7584959G>C | CA362693583 | DSP | c.6368G>C (p.Gly2123Ala) c.7697G>C (p.Gly2566Ala) c.5900G>C (p.Gly1967Ala) | |
| 6 | g.7584959G>T | CA362693584 | DSP | c.6368G>T (p.Gly2123Val) c.7697G>T (p.Gly2566Val) c.5900G>T (p.Gly1967Val) | |
| 6 | g.7584960T>A | CA448717089 | DSP | c.6369T>A (p.Gly2123=) c.7698T>A (p.Gly2566=) c.5901T>A (p.Gly1967=) | |
| 6 | g.7584960T>C | CA448717092 | DSP | c.6369T>C (p.Gly2123=) c.7698T>C (p.Gly2566=) c.5901T>C (p.Gly1967=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.7584960T>G | CA448717090 | DSP | c.6369T>G (p.Gly2123=) c.7698T>G (p.Gly2566=) c.5901T>G (p.Gly1967=) | |
| 6 | g.7584960T= | CA1608612812 | DSP | c.6369T= (p.Gly2123=) c.7698T= (p.Gly2566=) c.5901T= (p.Gly1967=) | |
| 6 | g.7584961G>A | CA362693585 | DSP | c.6370G>A (p.Val2124Ile) c.7699G>A (p.Val2567Ile) c.5902G>A (p.Val1968Ile) | dbSNP gnomAD v4 |
| 6 | g.7584961G>C | CA362693586 | DSP | c.6370G>C (p.Val2124Leu) c.7699G>C (p.Val2567Leu) c.5902G>C (p.Val1968Leu) | |
| 6 | g.7584961G= | CA1608612820 | DSP | c.6370G= (p.Val2124=) c.7699G= (p.Val2567=) c.5902G= (p.Val1968=) | |
| 6 | g.7584961G>T | CA362693587 | DSP | c.6370G>T (p.Val2124Phe) c.7699G>T (p.Val2567Phe) c.5902G>T (p.Val1968Phe) | |
| 6 | g.7584962T>A | CA362693588 | DSP | c.6371T>A (p.Val2124Asp) c.7700T>A (p.Val2567Asp) c.5903T>A (p.Val1968Asp) | |
| 6 | g.7584962T>C | CA362693590 | DSP | c.6371T>C (p.Val2124Ala) c.7700T>C (p.Val2567Ala) c.5903T>C (p.Val1968Ala) | |
| 6 | g.7584962T>G | CA362693589 | DSP | c.6371T>G (p.Val2124Gly) c.7700T>G (p.Val2567Gly) c.5903T>G (p.Val1968Gly) | |
| 6 | g.7584963C>A | CA448717094 | DSP | c.6372C>A (p.Val2124=) c.7701C>A (p.Val2567=) c.5904C>A (p.Val1968=) | |
| 6 | g.7584963C= | CA1608612827 | DSP | c.6372C= (p.Val2124=) c.7701C= (p.Val2567=) c.5904C= (p.Val1968=) | |
| 6 | g.7584963C>G | CA448717095 | DSP | c.6372C>G (p.Val2124=) c.7701C>G (p.Val2567=) c.5904C>G (p.Val1968=) | ClinVar gnomAD v4 |
| 6 | g.7584963C>T | CA050472 | DSP | c.6372C>T (p.Val2124=) c.7701C>T (p.Val2567=) c.5904C>T (p.Val1968=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584964G>A | CA050483 | DSP | c.6373G>A (p.Gly2125Ser) c.7702G>A (p.Gly2568Ser) c.5905G>A (p.Gly1969Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7584964G>C | CA362693591 | DSP | c.6373G>C (p.Gly2125Arg) c.7702G>C (p.Gly2568Arg) c.5905G>C (p.Gly1969Arg) | gnomAD v4 |
| 6 | g.7584964G= | CA1608612839 | DSP | c.6373G= (p.Gly2125=) c.7702G= (p.Gly2568=) c.5905G= (p.Gly1969=) | |
| 6 | g.7584964G>T | CA362693592 | DSP | c.6373G>T (p.Gly2125Cys) c.7702G>T (p.Gly2568Cys) c.5905G>T (p.Gly1969Cys) | dbSNP gnomAD v4 |
| 6 | g.7584965G>A | CA362693593 | DSP | c.6374G>A (p.Gly2125Asp) c.7703G>A (p.Gly2568Asp) c.5906G>A (p.Gly1969Asp) | |
| 6 | g.7584965G>C | CA362693594 | DSP | c.6374G>C (p.Gly2125Ala) c.7703G>C (p.Gly2568Ala) c.5906G>C (p.Gly1969Ala) | |
| 6 | g.7584965G>T | CA362693595 | DSP | c.6374G>T (p.Gly2125Val) c.7703G>T (p.Gly2568Val) c.5906G>T (p.Gly1969Val) | |
| 6 | g.7584966C>A | CA448717106 | DSP | c.6375C>A (p.Gly2125=) c.7704C>A (p.Gly2568=) c.5907C>A (p.Gly1969=) | |
| 6 | g.7584966C>G | CA448717107 | DSP | c.6375C>G (p.Gly2125=) c.7704C>G (p.Gly2568=) c.5907C>G (p.Gly1969=) | |
| 6 | g.7584966C>T | CA448717108 | DSP | c.6375C>T (p.Gly2125=) c.7704C>T (p.Gly2568=) c.5907C>T (p.Gly1969=) | |
| 6 | g.7584967A>C | CA362693596 | DSP | c.6376A>C (p.Thr2126Pro) c.7705A>C (p.Thr2569Pro) c.5908A>C (p.Thr1970Pro) | gnomAD v4 |
| 6 | g.7584967A>G | CA362693597 | DSP | c.6376A>G (p.Thr2126Ala) c.7705A>G (p.Thr2569Ala) c.5908A>G (p.Thr1970Ala) | |
| 6 | g.7584967A>T | CA362693598 | DSP | c.6376A>T (p.Thr2126Ser) c.7705A>T (p.Thr2569Ser) c.5908A>T (p.Thr1970Ser) | |
| 6 | g.7584968C>A | CA362693599 | DSP | c.6377C>A (p.Thr2126Asn) c.7706C>A (p.Thr2569Asn) c.5909C>A (p.Thr1970Asn) | ClinVar gnomAD v4 |
| 6 | g.7584968C= | CA1608612849 | DSP | c.6377C= (p.Thr2126=) c.7706C= (p.Thr2569=) c.5909C= (p.Thr1970=) | |
| 6 | g.7584968C>G | CA362693600 | DSP | c.6377C>G (p.Thr2126Ser) c.7706C>G (p.Thr2569Ser) c.5909C>G (p.Thr1970Ser) | |
| 6 | g.7584968C>T | CA050493 | DSP | c.6377C>T (p.Thr2126Ile) c.7706C>T (p.Thr2569Ile) c.5909C>T (p.Thr1970Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584969C>A | CA448717116 | DSP | c.6378C>A (p.Thr2126=) c.7707C>A (p.Thr2569=) c.5910C>A (p.Thr1970=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584969C= | CA1608612858 | DSP | c.6378C= (p.Thr2126=) c.7707C= (p.Thr2569=) c.5910C= (p.Thr1970=) | |
| 6 | g.7584969C>G | CA448717118 | DSP | c.6378C>G (p.Thr2126=) c.7707C>G (p.Thr2569=) c.5910C>G (p.Thr1970=) | |
| 6 | g.7584969C>T | CA448717119 | DSP | c.6378C>T (p.Thr2126=) c.7707C>T (p.Thr2569=) c.5910C>T (p.Thr1970=) | COSMIC |
| 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.7584970A= | CA1608612863 | DSP | c.6379A= (p.Ser2127=) c.7708A= (p.Ser2570=) c.5911A= (p.Ser1971=) | |
| 6 | g.7584970A>C | CA362693601 | DSP | c.6379A>C (p.Ser2127Arg) c.7708A>C (p.Ser2570Arg) c.5911A>C (p.Ser1971Arg) | |
| 6 | g.7584970A>G | CA362693602 | DSP | c.6379A>G (p.Ser2127Gly) c.7708A>G (p.Ser2570Gly) c.5911A>G (p.Ser1971Gly) | ClinVar dbSNP |
| 6 | g.7584970A>T | CA362693603 | DSP | c.6379A>T (p.Ser2127Cys) c.7708A>T (p.Ser2570Cys) c.5911A>T (p.Ser1971Cys) | |
| 6 | g.7584971G>A | CA362693604 | DSP | c.6380G>A (p.Ser2127Asn) c.7709G>A (p.Ser2570Asn) c.5912G>A (p.Ser1971Asn) | |
| 6 | g.7584971G>C | CA362693606 | DSP | c.6380G>C (p.Ser2127Thr) c.7709G>C (p.Ser2570Thr) c.5912G>C (p.Ser1971Thr) | COSMIC |
| 6 | g.7584971G>T | CA362693605 | DSP | c.6380G>T (p.Ser2127Ile) c.7709G>T (p.Ser2570Ile) c.5912G>T (p.Ser1971Ile) | |
| 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) | ClinVar 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) | ClinVar 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) | |
| 6 | g.7584985A>G | CA362693640 | DSP | c.6394A>G (p.Ser2132Gly) c.7723A>G (p.Ser2575Gly) c.5926A>G (p.Ser1976Gly) | |
| 6 | g.7584985A>T | CA362693639 | DSP | c.6394A>T (p.Ser2132Cys) c.7723A>T (p.Ser2575Cys) c.5926A>T (p.Ser1976Cys) | |
| 6 | g.7584986G>A | CA362693641 | DSP | c.6395G>A (p.Ser2132Asn) c.7724G>A (p.Ser2575Asn) c.5927G>A (p.Ser1976Asn) | |
| 6 | g.7584986G>C | CA362693642 | DSP | c.6395G>C (p.Ser2132Thr) c.7724G>C (p.Ser2575Thr) c.5927G>C (p.Ser1976Thr) | |
| 6 | g.7584986G>T | CA362693643 | DSP | c.6395G>T (p.Ser2132Ile) c.7724G>T (p.Ser2575Ile) c.5927G>T (p.Ser1976Ile) | COSMIC |
| 6 | g.7584987T>A | CA362693644 | DSP | c.6396T>A (p.Ser2132Arg) c.7725T>A (p.Ser2575Arg) c.5928T>A (p.Ser1976Arg) | |
| 6 | g.7584987T>C | CA448716336 | DSP | c.6396T>C (p.Ser2132=) c.7725T>C (p.Ser2575=) c.5928T>C (p.Ser1976=) | ClinVar |
| 6 | g.7584987T>G | CA362693645 | DSP | c.6396T>G (p.Ser2132Arg) c.7725T>G (p.Ser2575Arg) c.5928T>G (p.Ser1976Arg) | |
| 6 | g.7584988G>A | CA362693648 | DSP | c.6397G>A (p.Gly2133Ser) c.7726G>A (p.Gly2576Ser) c.5929G>A (p.Gly1977Ser) | |
| 6 | g.7584988G>C | CA362693647 | DSP | c.6397G>C (p.Gly2133Arg) c.7726G>C (p.Gly2576Arg) c.5929G>C (p.Gly1977Arg) | dbSNP |
| 6 | g.7584988G>T | CA362693646 | DSP | c.6397G>T (p.Gly2133Cys) c.7726G>T (p.Gly2576Cys) c.5929G>T (p.Gly1977Cys) | |
| 6 | g.7584989G>A | CA362693650 | DSP | c.6398G>A (p.Gly2133Asp) c.7727G>A (p.Gly2576Asp) c.5930G>A (p.Gly1977Asp) | |
| 6 | g.7584989G>C | CA362693649 | DSP | c.6398G>C (p.Gly2133Ala) c.7727G>C (p.Gly2576Ala) c.5930G>C (p.Gly1977Ala) | |
| 6 | g.7584989G= | CA1608612896 | DSP | c.6398G= (p.Gly2133=) c.7727G= (p.Gly2576=) c.5930G= (p.Gly1977=) | |
| 6 | g.7584989G>T | CA050527 | DSP | c.6398G>T (p.Gly2133Val) c.7727G>T (p.Gly2576Val) c.5930G>T (p.Gly1977Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584990T>A | CA448716343 | DSP | c.6399T>A (p.Gly2133=) c.7728T>A (p.Gly2576=) c.5931T>A (p.Gly1977=) | |
| 6 | g.7584990T>C | CA133976484 | DSP | c.6399T>C (p.Gly2133=) c.7728T>C (p.Gly2576=) c.5931T>C (p.Gly1977=) | dbSNP gnomAD v4 |
| 6 | g.7584990T>G | CA448716346 | DSP | c.6399T>G (p.Gly2133=) c.7728T>G (p.Gly2576=) c.5931T>G (p.Gly1977=) | ClinVar dbSNP |
| 6 | g.7584990T= | CA1608612898 | DSP | c.6399T= (p.Gly2133=) c.7728T= (p.Gly2576=) c.5931T= (p.Gly1977=) | |
| 6 | g.7584991G>A | CA362693651 | DSP | c.6400G>A (p.Val2134Ile) c.7729G>A (p.Val2577Ile) c.5932G>A (p.Val1978Ile) | |
| 6 | g.7584991G>C | CA362693652 | DSP | c.6400G>C (p.Val2134Leu) c.7729G>C (p.Val2577Leu) c.5932G>C (p.Val1978Leu) | |
| 6 | g.7584991G>T | CA362693653 | DSP | c.6400G>T (p.Val2134Phe) c.7729G>T (p.Val2577Phe) c.5932G>T (p.Val1978Phe) | |
| 6 | g.7584992T>A | CA362693654 | DSP | c.6401T>A (p.Val2134Asp) c.7730T>A (p.Val2577Asp) c.5933T>A (p.Val1978Asp) | gnomAD v4 |
| 6 | g.7584992T>C | CA050543 | DSP | c.6401T>C (p.Val2134Ala) c.7730T>C (p.Val2577Ala) c.5933T>C (p.Val1978Ala) | dbSNP ExAC gnomAD v4 |
| 6 | g.7584992T>G | CA362693655 | DSP | c.6401T>G (p.Val2134Gly) c.7730T>G (p.Val2577Gly) c.5933T>G (p.Val1978Gly) | |
| 6 | g.7584992T= | CA1608612906 | DSP | c.6401T= (p.Val2134=) c.7730T= (p.Val2577=) c.5933T= (p.Val1978=) | |
| 6 | g.7584993C>A | CA448716361 | DSP | c.6402C>A (p.Val2134=) c.7731C>A (p.Val2577=) c.5934C>A (p.Val1978=) | |
| 6 | g.7584993C= | CA1608612910 | DSP | c.6402C= (p.Val2134=) c.7731C= (p.Val2577=) c.5934C= (p.Val1978=) | |
| 6 | g.7584993C>G | CA448716362 | DSP | c.6402C>G (p.Val2134=) c.7731C>G (p.Val2577=) c.5934C>G (p.Val1978=) | |
| 6 | g.7584993C>T | CA448716366 | DSP | c.6402C>T (p.Val2134=) c.7731C>T (p.Val2577=) c.5934C>T (p.Val1978=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584994A= | CA1608612927 | DSP | c.6403A= (p.Ser2135=) c.7732A= (p.Ser2578=) c.5935A= (p.Ser1979=) | |
| 6 | g.7584994A>C | CA362693656 | DSP | c.6403A>C (p.Ser2135Arg) c.7732A>C (p.Ser2578Arg) c.5935A>C (p.Ser1979Arg) | |
| 6 | g.7584994A>G | CA362693657 | DSP | c.6403A>G (p.Ser2135Gly) c.7732A>G (p.Ser2578Gly) c.5935A>G (p.Ser1979Gly) | dbSNP gnomAD v4 |
| 6 | g.7584994A>T | CA362693658 | DSP | c.6403A>T (p.Ser2135Cys) c.7732A>T (p.Ser2578Cys) c.5935A>T (p.Ser1979Cys) | ClinVar |
| 6 | g.7584995G>A | CA362693659 | DSP | c.6404G>A (p.Ser2135Asn) c.7733G>A (p.Ser2578Asn) c.5936G>A (p.Ser1979Asn) | |
| 6 | g.7584995G>C | CA362693660 | DSP | c.6404G>C (p.Ser2135Thr) c.7733G>C (p.Ser2578Thr) c.5936G>C (p.Ser1979Thr) | |
| 6 | g.7584995G>T | CA362693661 | DSP | c.6404G>T (p.Ser2135Ile) c.7733G>T (p.Ser2578Ile) c.5936G>T (p.Ser1979Ile) | |
| 6 | g.7584996C>A | CA362693662 | DSP | c.6405C>A (p.Ser2135Arg) c.7734C>A (p.Ser2578Arg) c.5937C>A (p.Ser1979Arg) | |
| 6 | g.7584996C= | CA1608612933 | DSP | c.6405C= (p.Ser2135=) c.7734C= (p.Ser2578=) c.5937C= (p.Ser1979=) | |
| 6 | g.7584996C>G | CA050554 | DSP | c.6405C>G (p.Ser2135Arg) c.7734C>G (p.Ser2578Arg) c.5937C>G (p.Ser1979Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584996C>T | CA007258 | DSP | c.6405C>T (p.Ser2135=) c.7734C>T (p.Ser2578=) c.5937C>T (p.Ser1979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7584996_7584999delinsCGAT | CA1608612940 | DSP | c.6405_6408delinsCGAT (p.Ser2135=) c.7734_7737delinsCGAT (p.Ser2578=) c.5937_5940delinsCGAT (p.Ser1979=) | |
| 6 | g.7584997G>A | CA050579 | DSP | c.6406G>A (p.Asp2136Asn) c.7735G>A (p.Asp2579Asn) c.5938G>A (p.Asp1980Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584997G>C | CA362693663 | DSP | c.6406G>C (p.Asp2136His) c.7735G>C (p.Asp2579His) c.5938G>C (p.Asp1980His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584997G= | CA1608612946 | DSP | c.6406G= (p.Asp2136=) c.7735G= (p.Asp2579=) c.5938G= (p.Asp1980=) | |
| 6 | g.7584997G>T | CA362693664 | DSP | c.6406G>T (p.Asp2136Tyr) c.7735G>T (p.Asp2579Tyr) c.5938G>T (p.Asp1980Tyr) | |
| 6 | g.7585001_7585003del | CA1139659424 | DSP | c.6410_6412del (p.Asp2137del) c.7739_7741del (p.Asp2580del) c.5942_5944del (p.Asp1981del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584998A= | CA1608612958 | DSP | c.6407A= (p.Asp2136=) c.7736A= (p.Asp2579=) c.5939A= (p.Asp1980=) | |
| 6 | g.7584998A>C | CA362693665 | DSP | c.6407A>C (p.Asp2136Ala) c.7736A>C (p.Asp2579Ala) c.5939A>C (p.Asp1980Ala) | |
| 6 | g.7584998A>G | CA362693666 | DSP | c.6407A>G (p.Asp2136Gly) c.7736A>G (p.Asp2579Gly) c.5939A>G (p.Asp1980Gly) | |
| 6 | g.7584998A>T | CA362693667 | DSP | c.6407A>T (p.Asp2136Val) c.7736A>T (p.Asp2579Val) c.5939A>T (p.Asp1980Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584999T>A | CA362693668 | DSP | c.6408T>A (p.Asp2136Glu) c.7737T>A (p.Asp2579Glu) c.5940T>A (p.Asp1980Glu) | |
| 6 | g.7584999T>C | CA448716374 | DSP | c.6408T>C (p.Asp2136=) c.7737T>C (p.Asp2579=) c.5940T>C (p.Asp1980=) | |
| 6 | g.7584999T>G | CA362693669 | DSP | c.6408T>G (p.Asp2136Glu) c.7737T>G (p.Asp2579Glu) c.5940T>G (p.Asp1980Glu) | |
| 6 | g.7585000del | CA2580075381 | DSP | c.6409del (p.Asp2137MetfsTer11) c.7738del (p.Asp2580MetfsTer11) c.5941del (p.Asp1981MetfsTer11) | ClinVar |
| 6 | g.7585000G>A | CA362693670 | DSP | c.6409G>A (p.Asp2137Asn) c.7738G>A (p.Asp2580Asn) c.5941G>A (p.Asp1981Asn) | |
| 6 | g.7585000G>C | CA362693671 | DSP | c.6409G>C (p.Asp2137His) c.7738G>C (p.Asp2580His) c.5941G>C (p.Asp1981His) | |
| 6 | g.7585000G= | CA1608612974 | DSP | c.6409G= (p.Asp2137=) c.7738G= (p.Asp2580=) c.5941G= (p.Asp1981=) | |
| 6 | g.7585000G>T | CA050590 | DSP | c.6409G>T (p.Asp2137Tyr) c.7738G>T (p.Asp2580Tyr) c.5941G>T (p.Asp1981Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585001A= | CA1608612981 | DSP | c.6410A= (p.Asp2137=) c.7739A= (p.Asp2580=) c.5942A= (p.Asp1981=) | |
| 6 | g.7585001A>C | CA362693674 | DSP | c.6410A>C (p.Asp2137Ala) c.7739A>C (p.Asp2580Ala) c.5942A>C (p.Asp1981Ala) | |
| 6 | g.7585001A>G | CA362693673 | DSP | c.6410A>G (p.Asp2137Gly) c.7739A>G (p.Asp2580Gly) c.5942A>G (p.Asp1981Gly) | gnomAD v4 |
| 6 | g.7585001A>T | CA362693672 | DSP | c.6410A>T (p.Asp2137Val) c.7739A>T (p.Asp2580Val) c.5942A>T (p.Asp1981Val) | dbSNP gnomAD v4 |
| 6 | g.7585002T>A | CA362693675 | DSP | c.6411T>A (p.Asp2137Glu) c.7740T>A (p.Asp2580Glu) c.5943T>A (p.Asp1981Glu) | gnomAD v4 |
| 6 | g.7585002T>C | CA050599 | DSP | c.6411T>C (p.Asp2137=) c.7740T>C (p.Asp2580=) c.5943T>C (p.Asp1981=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585002T>G | CA362693676 | DSP | c.6411T>G (p.Asp2137Glu) c.7740T>G (p.Asp2580Glu) c.5943T>G (p.Asp1981Glu) | |
| 6 | g.7585002T= | CA1608612985 | DSP | c.6411T= (p.Asp2137=) c.7740T= (p.Asp2580=) c.5943T= (p.Asp1981=) | |
| 6 | g.7585003G>A | CA362693677 | DSP | c.6412G>A (p.Val2138Ile) c.7741G>A (p.Val2581Ile) c.5944G>A (p.Val1982Ile) | |
| 6 | g.7585003G>C | CA362693678 | DSP | c.6412G>C (p.Val2138Leu) c.7741G>C (p.Val2581Leu) c.5944G>C (p.Val1982Leu) | |
| 6 | g.7585003G>T | CA362693679 | DSP | c.6412G>T (p.Val2138Phe) c.7741G>T (p.Val2581Phe) c.5944G>T (p.Val1982Phe) | |
| 6 | g.7585004T>A | CA362693680 | DSP | c.6413T>A (p.Val2138Asp) c.7742T>A (p.Val2581Asp) c.5945T>A (p.Val1982Asp) | gnomAD v4 |
| 6 | g.7585004T>C | CA362693681 | DSP | c.6413T>C (p.Val2138Ala) c.7742T>C (p.Val2581Ala) c.5945T>C (p.Val1982Ala) | |
| 6 | g.7585004T>G | CA362693682 | DSP | c.6413T>G (p.Val2138Gly) c.7742T>G (p.Val2581Gly) c.5945T>G (p.Val1982Gly) | |
| 6 | g.7585007_7585008del | CA2580075382 | DSP | c.6416_6417del (p.Phe2139Ter) c.7745_7746del (p.Phe2582Ter) c.5948_5949del (p.Phe1983Ter) | ClinVar |
| 6 | g.7585005T>A | CA448716395 | DSP | c.6414T>A (p.Val2138=) c.7743T>A (p.Val2581=) c.5946T>A (p.Val1982=) | |
| 6 | g.7585005T>C | CA448716396 | DSP | c.6414T>C (p.Val2138=) c.7743T>C (p.Val2581=) c.5946T>C (p.Val1982=) | |
| 6 | g.7585005T>G | CA448716397 | DSP | c.6414T>G (p.Val2138=) c.7743T>G (p.Val2581=) c.5946T>G (p.Val1982=) | |
| 6 | g.7585006T>A | CA362693683 | DSP | c.6415T>A (p.Phe2139Ile) c.7744T>A (p.Phe2582Ile) c.5947T>A (p.Phe1983Ile) | |
| 6 | g.7585006T>C | CA362693684 | DSP | c.6415T>C (p.Phe2139Leu) c.7744T>C (p.Phe2582Leu) c.5947T>C (p.Phe1983Leu) | |
| 6 | g.7585006T>G | CA362693685 | DSP | c.6415T>G (p.Phe2139Val) c.7744T>G (p.Phe2582Val) c.5947T>G (p.Phe1983Val) | |
| 6 | g.7585007T>A | CA362693687 | DSP | c.6416T>A (p.Phe2139Tyr) c.7745T>A (p.Phe2582Tyr) c.5948T>A (p.Phe1983Tyr) | |
| 6 | g.7585007T>C | CA362693686 | DSP | c.6416T>C (p.Phe2139Ser) c.7745T>C (p.Phe2582Ser) c.5948T>C (p.Phe1983Ser) | |
| 6 | g.7585007T>G | CA007266 | DSP | c.6416T>G (p.Phe2139Cys) c.7745T>G (p.Phe2582Cys) c.5948T>G (p.Phe1983Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585007T= | CA1608612993 | DSP | c.6416T= (p.Phe2139=) c.7745T= (p.Phe2582=) c.5948T= (p.Phe1983=) | |
| 6 | g.7585008T>A | CA362693688 | DSP | c.6417T>A (p.Phe2139Leu) c.7746T>A (p.Phe2582Leu) c.5949T>A (p.Phe1983Leu) | |
| 6 | g.7585008T>C | CA448716400 | DSP | c.6417T>C (p.Phe2139=) c.7746T>C (p.Phe2582=) c.5949T>C (p.Phe1983=) | dbSNP gnomAD v4 |
| 6 | g.7585008T>G | CA362693689 | DSP | c.6417T>G (p.Phe2139Leu) c.7746T>G (p.Phe2582Leu) c.5949T>G (p.Phe1983Leu) | |
| 6 | g.7585008T= | CA1608613004 | DSP | c.6417T= (p.Phe2139=) c.7746T= (p.Phe2582=) c.5949T= (p.Phe1983=) | |
| 6 | g.7585009A>C | CA362693690 | DSP | c.6418A>C (p.Ser2140Arg) c.7747A>C (p.Ser2583Arg) c.5950A>C (p.Ser1984Arg) | ClinVar |
| 6 | g.7585009A>G | CA362693691 | DSP | c.6418A>G (p.Ser2140Gly) c.7747A>G (p.Ser2583Gly) c.5950A>G (p.Ser1984Gly) | gnomAD v4 |
| 6 | g.7585009A>T | CA362693692 | DSP | c.6418A>T (p.Ser2140Cys) c.7747A>T (p.Ser2583Cys) c.5950A>T (p.Ser1984Cys) | |
| 6 | g.7585010G>A | CA362693693 | DSP | c.6419G>A (p.Ser2140Asn) c.7748G>A (p.Ser2583Asn) c.5951G>A (p.Ser1984Asn) | |
| 6 | g.7585010G>C | CA362693694 | DSP | c.6419G>C (p.Ser2140Thr) c.7748G>C (p.Ser2583Thr) c.5951G>C (p.Ser1984Thr) | |
| 6 | g.7585010G>T | CA362693695 | DSP | c.6419G>T (p.Ser2140Ile) c.7748G>T (p.Ser2583Ile) c.5951G>T (p.Ser1984Ile) | dbSNP gnomAD v4 |
| 6 | g.7585011C>A | CA362693696 | DSP | c.6420C>A (p.Ser2140Arg) c.7749C>A (p.Ser2583Arg) c.5952C>A (p.Ser1984Arg) | |
| 6 | g.7585011C>G | CA362693697 | DSP | c.6420C>G (p.Ser2140Arg) c.7749C>G (p.Ser2583Arg) c.5952C>G (p.Ser1984Arg) | |
| 6 | g.7585011C>T | CA448716408 | DSP | c.6420C>T (p.Ser2140=) c.7749C>T (p.Ser2583=) c.5952C>T (p.Ser1984=) | gnomAD v4 |
| 6 | g.7585012A= | CA1608613012 | DSP | c.6421A= (p.Ser2141=) c.7750A= (p.Ser2584=) c.5953A= (p.Ser1985=) | |
| 6 | g.7585012A>C | CA362693698 | DSP | c.6421A>C (p.Ser2141Arg) c.7750A>C (p.Ser2584Arg) c.5953A>C (p.Ser1985Arg) | |
| 6 | g.7585012A>G | CA050628 | DSP | c.6421A>G (p.Ser2141Gly) c.7750A>G (p.Ser2584Gly) c.5953A>G (p.Ser1985Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585012A>T | CA362693699 | DSP | c.6421A>T (p.Ser2141Cys) c.7750A>T (p.Ser2584Cys) c.5953A>T (p.Ser1985Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585013G>A | CA362693701 | DSP | c.6422G>A (p.Ser2141Asn) c.7751G>A (p.Ser2584Asn) c.5954G>A (p.Ser1985Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585013G>C | CA362693702 | DSP | c.6422G>C (p.Ser2141Thr) c.7751G>C (p.Ser2584Thr) c.5954G>C (p.Ser1985Thr) | gnomAD v4 |
| 6 | g.7585013G= | CA1608613018 | DSP | c.6422G= (p.Ser2141=) c.7751G= (p.Ser2584=) c.5954G= (p.Ser1985=) | |
| 6 | g.7585013G>T | CA362693700 | DSP | c.6422G>T (p.Ser2141Ile) c.7751G>T (p.Ser2584Ile) c.5954G>T (p.Ser1985Ile) | |
| 6 | g.7585014C>A | CA362693703 | DSP | c.6423C>A (p.Ser2141Arg) c.7752C>A (p.Ser2584Arg) c.5955C>A (p.Ser1985Arg) | |
| 6 | g.7585014C= | CA1608613023 | DSP | c.6423C= (p.Ser2141=) c.7752C= (p.Ser2584=) c.5955C= (p.Ser1985=) | |
| 6 | g.7585014C>G | CA362693704 | DSP | c.6423C>G (p.Ser2141Arg) c.7752C>G (p.Ser2584Arg) c.5955C>G (p.Ser1985Arg) | |
| 6 | g.7585014C>T | CA448716411 | DSP | c.6423C>T (p.Ser2141=) c.7752C>T (p.Ser2584=) c.5955C>T (p.Ser1985=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585015T>A | CA362693705 | DSP | c.6424T>A (p.Ser2142Thr) c.7753T>A (p.Ser2585Thr) c.5956T>A (p.Ser1986Thr) | |
| 6 | g.7585015T>C | CA362693707 | DSP | c.6424T>C (p.Ser2142Pro) c.7753T>C (p.Ser2585Pro) c.5956T>C (p.Ser1986Pro) | |
| 6 | g.7585015T>G | CA362693706 | DSP | c.6424T>G (p.Ser2142Ala) c.7753T>G (p.Ser2585Ala) c.5956T>G (p.Ser1986Ala) | |
| 6 | g.7585016C>A | CA362693708 | DSP | c.6425C>A (p.Ser2142Tyr) c.7754C>A (p.Ser2585Tyr) c.5957C>A (p.Ser1986Tyr) | |
| 6 | g.7585016C= | CA1608613026 | DSP | c.6425C= (p.Ser2142=) c.7754C= (p.Ser2585=) c.5957C= (p.Ser1986=) | |
| 6 | g.7585016C>G | CA362693709 | DSP | c.6425C>G (p.Ser2142Cys) c.7754C>G (p.Ser2585Cys) c.5957C>G (p.Ser1986Cys) | gnomAD v4 COSMIC |
| 6 | g.7585016C>T | CA133976559 | DSP | c.6425C>T (p.Ser2142Phe) c.7754C>T (p.Ser2585Phe) c.5957C>T (p.Ser1986Phe) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585017C>A | CA448716413 | DSP | c.6426C>A (p.Ser2142=) c.7755C>A (p.Ser2585=) c.5958C>A (p.Ser1986=) | |
| 6 | g.7585017C>G | CA448716414 | DSP | c.6426C>G (p.Ser2142=) c.7755C>G (p.Ser2585=) c.5958C>G (p.Ser1986=) | |
| 6 | g.7585017C>T | CA448716415 | DSP | c.6426C>T (p.Ser2142=) c.7755C>T (p.Ser2585=) c.5958C>T (p.Ser1986=) | |
| 6 | g.7585018C>A | CA448716416 | DSP | c.6427C>A (p.Arg2143=) c.7756C>A (p.Arg2586=) c.5959C>A (p.Arg1987=) | |
| 6 | g.7585018C= | CA1608613034 | DSP | c.6427C= (p.Arg2143=) c.7756C= (p.Arg2586=) c.5959C= (p.Arg1987=) | |
| 6 | g.7585018C>G | CA362693710 | DSP | c.6427C>G (p.Arg2143Gly) c.7756C>G (p.Arg2586Gly) c.5959C>G (p.Arg1987Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585018C>T | CA362693711 | DSP | c.6427C>T (p.Arg2143Ter) c.7756C>T (p.Arg2586Ter) c.5959C>T (p.Arg1987Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585018_7585019insAACACCAACCAAACACACCCAA | CA2769903918 | DSP | c.6427_6428insAACACCAACCAAACACACCCAA (p.Arg2143GlnfsTer10) c.7756_7757insAACACCAACCAAACACACCCAA (p.Arg2586GlnfsTer10) c.5959_5960insAACACCAACCAAACACACCCAA (p.Arg1987GlnfsTer10) | |
| 6 | g.7585019G>A | CA050637 | DSP | c.6428G>A (p.Arg2143Gln) c.7757G>A (p.Arg2586Gln) c.5960G>A (p.Arg1987Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585019G>C | CA362693712 | DSP | c.6428G>C (p.Arg2143Pro) c.7757G>C (p.Arg2586Pro) c.5960G>C (p.Arg1987Pro) | |
| 6 | g.7585019G= | CA1608613042 | DSP | c.6428G= (p.Arg2143=) c.7757G= (p.Arg2586=) c.5960G= (p.Arg1987=) | |
| 6 | g.7585019G>T | CA362693713 | DSP | c.6428G>T (p.Arg2143Leu) c.7757G>T (p.Arg2586Leu) c.5960G>T (p.Arg1987Leu) | |
| 6 | g.7585020A= | CA1608613047 | DSP | c.6429A= (p.Arg2143=) c.7758A= (p.Arg2586=) c.5961A= (p.Arg1987=) | |
| 6 | g.7585020A>C | CA448716422 | DSP | c.6429A>C (p.Arg2143=) c.7758A>C (p.Arg2586=) c.5961A>C (p.Arg1987=) | |
| 6 | g.7585020A>G | CA448716424 | DSP | c.6429A>G (p.Arg2143=) c.7758A>G (p.Arg2586=) c.5961A>G (p.Arg1987=) | ClinVar dbSNP |
| 6 | g.7585020A>T | CA448716425 | DSP | c.6429A>T (p.Arg2143=) c.7758A>T (p.Arg2586=) c.5961A>T (p.Arg1987=) | dbSNP |
| 6 | g.7585021C>A | CA362693714 | DSP | c.6430C>A (p.His2144Asn) c.7759C>A (p.His2587Asn) c.5962C>A (p.His1988Asn) | |
| 6 | g.7585021C>G | CA362693715 | DSP | c.6430C>G (p.His2144Asp) c.7759C>G (p.His2587Asp) c.5962C>G (p.His1988Asp) | |
| 6 | g.7585021C>T | CA362693716 | DSP | c.6430C>T (p.His2144Tyr) c.7759C>T (p.His2587Tyr) c.5962C>T (p.His1988Tyr) | gnomAD v4 |
| 6 | g.7585022A= | CA1608613050 | DSP | c.6431A= (p.His2144=) c.7760A= (p.His2587=) c.5963A= (p.His1988=) | |
| 6 | g.7585022A>C | CA362693718 | DSP | c.6431A>C (p.His2144Pro) c.7760A>C (p.His2587Pro) c.5963A>C (p.His1988Pro) | |
| 6 | g.7585022A>G | CA050646 | DSP | c.6431A>G (p.His2144Arg) c.7760A>G (p.His2587Arg) c.5963A>G (p.His1988Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585022A>T | CA362693717 | DSP | c.6431A>T (p.His2144Leu) c.7760A>T (p.His2587Leu) c.5963A>T (p.His1988Leu) | |
| 6 | g.7585023T>A | CA362693719 | DSP | c.6432T>A (p.His2144Gln) c.7761T>A (p.His2587Gln) c.5964T>A (p.His1988Gln) | |
| 6 | g.7585023T>C | CA448716433 | DSP | c.6432T>C (p.His2144=) c.7761T>C (p.His2587=) c.5964T>C (p.His1988=) | ClinVar |
| 6 | g.7585023T>G | CA362693720 | DSP | c.6432T>G (p.His2144Gln) c.7761T>G (p.His2587Gln) c.5964T>G (p.His1988Gln) | gnomAD v4 |
| 6 | g.7585024G>A | CA362693721 | DSP | c.6433G>A (p.Glu2145Lys) c.7762G>A (p.Glu2588Lys) c.5965G>A (p.Glu1989Lys) | |
| 6 | g.7585024G>C | CA362693722 | DSP | c.6433G>C (p.Glu2145Gln) c.7762G>C (p.Glu2588Gln) c.5965G>C (p.Glu1989Gln) | ClinVar |
| 6 | g.7585024G= | CA1608613054 | DSP | c.6433G= (p.Glu2145=) c.7762G= (p.Glu2588=) c.5965G= (p.Glu1989=) | |
| 6 | g.7585024G>T | CA133976572 | DSP | c.6433G>T (p.Glu2145Ter) c.7762G>T (p.Glu2588Ter) c.5965G>T (p.Glu1989Ter) | ClinVar dbSNP COSMIC |
| 6 | g.7585025A>C | CA362693723 | DSP | c.6434A>C (p.Glu2145Ala) c.7763A>C (p.Glu2588Ala) c.5966A>C (p.Glu1989Ala) | |
| 6 | g.7585025A>G | CA362693724 | DSP | c.6434A>G (p.Glu2145Gly) c.7763A>G (p.Glu2588Gly) c.5966A>G (p.Glu1989Gly) | |
| 6 | g.7585025A>T | CA362693725 | DSP | c.6434A>T (p.Glu2145Val) c.7763A>T (p.Glu2588Val) c.5966A>T (p.Glu1989Val) | |
| 6 | g.7585026A>C | CA362693726 | DSP | c.6435A>C (p.Glu2145Asp) c.7764A>C (p.Glu2588Asp) c.5967A>C (p.Glu1989Asp) | |
| 6 | g.7585026A>G | CA448716434 | DSP | c.6435A>G (p.Glu2145=) c.7764A>G (p.Glu2588=) c.5967A>G (p.Glu1989=) | COSMIC |
| 6 | g.7585026A>T | CA362693727 | DSP | c.6435A>T (p.Glu2145Asp) c.7764A>T (p.Glu2588Asp) c.5967A>T (p.Glu1989Asp) | |
| 6 | g.7585027T>A | CA362693730 | DSP | c.6436T>A (p.Ser2146Thr) c.7765T>A (p.Ser2589Thr) c.5968T>A (p.Ser1990Thr) | |
| 6 | g.7585027T>C | CA362693729 | DSP | c.6436T>C (p.Ser2146Pro) c.7765T>C (p.Ser2589Pro) c.5968T>C (p.Ser1990Pro) | |
| 6 | g.7585027T>G | CA362693728 | DSP | c.6436T>G (p.Ser2146Ala) c.7765T>G (p.Ser2589Ala) c.5968T>G (p.Ser1990Ala) | |
| 6 | g.7585028C>A | CA362693731 | DSP | c.6437C>A (p.Ser2146Ter) c.7766C>A (p.Ser2589Ter) c.5969C>A (p.Ser1990Ter) | |
| 6 | g.7585028C= | CA1608613064 | DSP | c.6437C= (p.Ser2146=) c.7766C= (p.Ser2589=) c.5969C= (p.Ser1990=) | |
| 6 | g.7585028C>G | CA362693732 | DSP | c.6437C>G (p.Ser2146Ter) c.7766C>G (p.Ser2589Ter) c.5969C>G (p.Ser1990Ter) | |
| 6 | g.7585028C>T | CA362693733 | DSP | c.6437C>T (p.Ser2146Leu) c.7766C>T (p.Ser2589Leu) c.5969C>T (p.Ser1990Leu) | dbSNP |
| 6 | g.7585028_7585032delinsCAGTA | CA1608613063 | DSP | c.6437_6441delinsCAGTA (p.Ser2146=) c.7766_7770delinsCAGTA (p.Ser2589=) c.5969_5973delinsCAGTA (p.Ser1990=) | |
| 6 | g.7585029A= | CA1608613077 | DSP | c.6438A= (p.Ser2146=) c.7767A= (p.Ser2589=) c.5970A= (p.Ser1990=) | |
| 6 | g.7585029A>C | CA448716438 | DSP | c.6438A>C (p.Ser2146=) c.7767A>C (p.Ser2589=) c.5970A>C (p.Ser1990=) | |
| 6 | g.7585029A>G | CA050668 | DSP | c.6438A>G (p.Ser2146=) c.7767A>G (p.Ser2589=) c.5970A>G (p.Ser1990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585029A>T | CA448716440 | DSP | c.6438A>T (p.Ser2146=) c.7767A>T (p.Ser2589=) c.5970A>T (p.Ser1990=) | |
| 6 | g.7585035_7585038del | CA050660 | DSP | c.6444_6447del (p.Ser2148ArgfsTer11) c.7773_7776del (p.Ser2591ArgfsTer11) c.5976_5979del (p.Ser1992ArgfsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585030G>A | CA362693734 | DSP | c.6439G>A (p.Val2147Ile) c.7768G>A (p.Val2590Ile) c.5971G>A (p.Val1991Ile) | ClinVar |
| 6 | g.7585030G>C | CA362693735 | DSP | c.6439G>C (p.Val2147Leu) c.7768G>C (p.Val2590Leu) c.5971G>C (p.Val1991Leu) | |
| 6 | g.7585030G>T | CA362693736 | DSP | c.6439G>T (p.Val2147Leu) c.7768G>T (p.Val2590Leu) c.5971G>T (p.Val1991Leu) | |
| 6 | g.7585031T>A | CA362693737 | DSP | c.6440T>A (p.Val2147Glu) c.7769T>A (p.Val2590Glu) c.5972T>A (p.Val1991Glu) | |
| 6 | g.7585031T>C | CA362693738 | DSP | c.6440T>C (p.Val2147Ala) c.7769T>C (p.Val2590Ala) c.5972T>C (p.Val1991Ala) | |
| 6 | g.7585031T>G | CA362693739 | DSP | c.6440T>G (p.Val2147Gly) c.7769T>G (p.Val2590Gly) c.5972T>G (p.Val1991Gly) | |
| 6 | g.7585032A>C | CA448716448 | DSP | c.6441A>C (p.Val2147=) c.7770A>C (p.Val2590=) c.5973A>C (p.Val1991=) | |
| 6 | g.7585032A>G | CA448716449 | DSP | c.6441A>G (p.Val2147=) c.7770A>G (p.Val2590=) c.5973A>G (p.Val1991=) | |
| 6 | g.7585032A>T | CA448716450 | DSP | c.6441A>T (p.Val2147=) c.7770A>T (p.Val2590=) c.5973A>T (p.Val1991=) | |
| 6 | g.7585033A>C | CA362693742 | DSP | c.6442A>C (p.Ser2148Arg) c.7771A>C (p.Ser2591Arg) c.5974A>C (p.Ser1992Arg) | |
| 6 | g.7585033A>G | CA362693741 | DSP | c.6442A>G (p.Ser2148Gly) c.7771A>G (p.Ser2591Gly) c.5974A>G (p.Ser1992Gly) | |
| 6 | g.7585033A>T | CA362693740 | DSP | c.6442A>T (p.Ser2148Cys) c.7771A>T (p.Ser2591Cys) c.5974A>T (p.Ser1992Cys) | |
| 6 | g.7585034G>A | CA362693743 | DSP | c.6443G>A (p.Ser2148Asn) c.7772G>A (p.Ser2591Asn) c.5975G>A (p.Ser1992Asn) | |
| 6 | g.7585034G>C | CA362693744 | DSP | c.6443G>C (p.Ser2148Thr) c.7772G>C (p.Ser2591Thr) c.5975G>C (p.Ser1992Thr) | |
| 6 | g.7585034G>T | CA362693745 | DSP | c.6443G>T (p.Ser2148Ile) c.7772G>T (p.Ser2591Ile) c.5975G>T (p.Ser1992Ile) | |
| 6 | g.7585035T>A | CA362693746 | DSP | c.6444T>A (p.Ser2148Arg) c.7773T>A (p.Ser2591Arg) c.5976T>A (p.Ser1992Arg) | |
| 6 | g.7585035T>C | CA448716464 | DSP | c.6444T>C (p.Ser2148=) c.7773T>C (p.Ser2591=) c.5976T>C (p.Ser1992=) | |
| 6 | g.7585035T>G | CA362693747 | DSP | c.6444T>G (p.Ser2148Arg) c.7773T>G (p.Ser2591Arg) c.5976T>G (p.Ser1992Arg) | |
| 6 | g.7585036A>C | CA362693748 | DSP | c.6445A>C (p.Lys2149Gln) c.7774A>C (p.Lys2592Gln) c.5977A>C (p.Lys1993Gln) | |
| 6 | g.7585036A>G | CA362693749 | DSP | c.6445A>G (p.Lys2149Glu) c.7774A>G (p.Lys2592Glu) c.5977A>G (p.Lys1993Glu) | |
| 6 | g.7585036A>T | CA362693750 | DSP | c.6445A>T (p.Lys2149Ter) c.7774A>T (p.Lys2592Ter) c.5977A>T (p.Lys1993Ter) | |
| 6 | g.7585037A>C | CA362693751 | DSP | c.6446A>C (p.Lys2149Thr) c.7775A>C (p.Lys2592Thr) c.5978A>C (p.Lys1993Thr) | |
| 6 | g.7585037A>G | CA362693752 | DSP | c.6446A>G (p.Lys2149Arg) c.7775A>G (p.Lys2592Arg) c.5978A>G (p.Lys1993Arg) | gnomAD v4 |
| 6 | g.7585037A>T | CA362693753 | DSP | c.6446A>T (p.Lys2149Met) c.7775A>T (p.Lys2592Met) c.5978A>T (p.Lys1993Met) | |
| 6 | g.7585038G>A | CA448716467 | DSP | c.6447G>A (p.Lys2149=) c.7776G>A (p.Lys2592=) c.5979G>A (p.Lys1993=) | gnomAD v4 |
| 6 | g.7585038G>C | CA362693754 | DSP | c.6447G>C (p.Lys2149Asn) c.7776G>C (p.Lys2592Asn) c.5979G>C (p.Lys1993Asn) | ClinVar |
| 6 | g.7585038G>T | CA362693755 | DSP | c.6447G>T (p.Lys2149Asn) c.7776G>T (p.Lys2592Asn) c.5979G>T (p.Lys1993Asn) | |
| 6 | g.7585039A>C | CA362693757 | DSP | c.6448A>C (p.Ile2150Leu) c.7777A>C (p.Ile2593Leu) c.5980A>C (p.Ile1994Leu) | |
| 6 | g.7585039A>G | CA362693758 | DSP | c.6448A>G (p.Ile2150Val) c.7777A>G (p.Ile2593Val) c.5980A>G (p.Ile1994Val) | |
| 6 | g.7585039A>T | CA362693756 | DSP | c.6448A>T (p.Ile2150Phe) c.7777A>T (p.Ile2593Phe) c.5980A>T (p.Ile1994Phe) | |
| 6 | g.7585039_7585040delinsAT | CA1608613082 | DSP | c.6448_6449delinsAT (p.Ile2150=) c.7777_7778delinsAT (p.Ile2593=) c.5980_5981delinsAT (p.Ile1994=) |