| 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.7585084T>A | CA362693853 | DSP | c.6493T>A (p.Ser2165Thr) c.7822T>A (p.Ser2608Thr) c.6025T>A (p.Ser2009Thr) | |
| 6 | g.7585084T>C | CA362693854 | DSP | c.6493T>C (p.Ser2165Pro) c.7822T>C (p.Ser2608Pro) c.6025T>C (p.Ser2009Pro) | |
| 6 | g.7585084T>G | CA362693855 | DSP | c.6493T>G (p.Ser2165Ala) c.7822T>G (p.Ser2608Ala) c.6025T>G (p.Ser2009Ala) | |
| 6 | g.7585085C>A | CA050912 | DSP | c.6494C>A (p.Ser2165Tyr) c.7823C>A (p.Ser2608Tyr) c.6026C>A (p.Ser2009Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585085C= | CA1608613197 | DSP | c.6494C= (p.Ser2165=) c.7823C= (p.Ser2608=) c.6026C= (p.Ser2009=) | |
| 6 | g.7585085C>G | CA362693856 | DSP | c.6494C>G (p.Ser2165Cys) c.7823C>G (p.Ser2608Cys) c.6026C>G (p.Ser2009Cys) | dbSNP gnomAD v4 |
| 6 | g.7585085C>T | CA362693857 | DSP | c.6494C>T (p.Ser2165Phe) c.7823C>T (p.Ser2608Phe) c.6026C>T (p.Ser2009Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585086T>A | CA448716611 | DSP | c.6495T>A (p.Ser2165=) c.7824T>A (p.Ser2608=) c.6027T>A (p.Ser2009=) | |
| 6 | g.7585086T>C | CA448716615 | DSP | c.6495T>C (p.Ser2165=) c.7824T>C (p.Ser2608=) c.6027T>C (p.Ser2009=) | COSMIC |
| 6 | g.7585086T>G | CA448716613 | DSP | c.6495T>G (p.Ser2165=) c.7824T>G (p.Ser2608=) c.6027T>G (p.Ser2009=) | |
| 6 | g.7585087T>A | CA362693860 | DSP | c.6496T>A (p.Phe2166Ile) c.7825T>A (p.Phe2609Ile) c.6028T>A (p.Phe2010Ile) | |
| 6 | g.7585087T>C | CA362693858 | DSP | c.6496T>C (p.Phe2166Leu) c.7825T>C (p.Phe2609Leu) c.6028T>C (p.Phe2010Leu) | |
| 6 | g.7585087T>G | CA362693859 | DSP | c.6496T>G (p.Phe2166Val) c.7825T>G (p.Phe2609Val) c.6028T>G (p.Phe2010Val) | |
| 6 | g.7585088T>A | CA362693861 | DSP | c.6497T>A (p.Phe2166Tyr) c.7826T>A (p.Phe2609Tyr) c.6029T>A (p.Phe2010Tyr) | |
| 6 | g.7585088T>C | CA007289 | DSP | c.6497T>C (p.Phe2166Ser) c.7826T>C (p.Phe2609Ser) c.6029T>C (p.Phe2010Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585088T>G | CA362693862 | DSP | c.6497T>G (p.Phe2166Cys) c.7826T>G (p.Phe2609Cys) c.6029T>G (p.Phe2010Cys) | |
| 6 | g.7585088T= | CA1608613204 | DSP | c.6497T= (p.Phe2166=) c.7826T= (p.Phe2609=) c.6029T= (p.Phe2010=) | |
| 6 | g.7585089T>A | CA362693863 | DSP | c.6498T>A (p.Phe2166Leu) c.7827T>A (p.Phe2609Leu) c.6030T>A (p.Phe2010Leu) | dbSNP |
| 6 | g.7585089T>C | CA448716618 | DSP | c.6498T>C (p.Phe2166=) c.7827T>C (p.Phe2609=) c.6030T>C (p.Phe2010=) | |
| 6 | g.7585089T>G | CA362693864 | DSP | c.6498T>G (p.Phe2166Leu) c.7827T>G (p.Phe2609Leu) c.6030T>G (p.Phe2010Leu) | |
| 6 | g.7585089T= | CA1608613207 | DSP | c.6498T= (p.Phe2166=) c.7827T= (p.Phe2609=) c.6030T= (p.Phe2010=) | |
| 6 | g.7585090T>A | CA362693865 | DSP | c.6499T>A (p.Ser2167Thr) c.7828T>A (p.Ser2610Thr) c.6031T>A (p.Ser2011Thr) | |
| 6 | g.7585090T>C | CA362693867 | DSP | c.6499T>C (p.Ser2167Pro) c.7828T>C (p.Ser2610Pro) c.6031T>C (p.Ser2011Pro) | gnomAD v4 |
| 6 | g.7585090T>G | CA362693866 | DSP | c.6499T>G (p.Ser2167Ala) c.7828T>G (p.Ser2610Ala) c.6031T>G (p.Ser2011Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585090T= | CA1608613215 | DSP | c.6499T= (p.Ser2167=) c.7828T= (p.Ser2610=) c.6031T= (p.Ser2011=) | |
| 6 | g.7585091C>A | CA362693868 | DSP | c.6500C>A (p.Ser2167Ter) c.7829C>A (p.Ser2610Ter) c.6032C>A (p.Ser2011Ter) | |
| 6 | g.7585091C= | CA1608613219 | DSP | c.6500C= (p.Ser2167=) c.7829C= (p.Ser2610=) c.6032C= (p.Ser2011=) | |
| 6 | g.7585091C>G | CA362693869 | DSP | c.6500C>G (p.Ser2167Ter) c.7829C>G (p.Ser2610Ter) c.6032C>G (p.Ser2011Ter) | ClinVar dbSNP |
| 6 | g.7585091C>T | CA362693870 | DSP | c.6500C>T (p.Ser2167Leu) c.7829C>T (p.Ser2610Leu) c.6032C>T (p.Ser2011Leu) | dbSNP |
| 6 | g.7585092A>C | CA448716625 | DSP | c.6501A>C (p.Ser2167=) c.7830A>C (p.Ser2610=) c.6033A>C (p.Ser2011=) | |
| 6 | g.7585092A>G | CA448716626 | DSP | c.6501A>G (p.Ser2167=) c.7830A>G (p.Ser2610=) c.6033A>G (p.Ser2011=) | gnomAD v4 |
| 6 | g.7585092A>T | CA448716627 | DSP | c.6501A>T (p.Ser2167=) c.7830A>T (p.Ser2610=) c.6033A>T (p.Ser2011=) | |
| 6 | g.7585093G>A | CA362693871 | DSP | c.6502G>A (p.Asp2168Asn) c.7831G>A (p.Asp2611Asn) c.6034G>A (p.Asp2012Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585093G>C | CA362693872 | DSP | c.6502G>C (p.Asp2168His) c.7831G>C (p.Asp2611His) c.6034G>C (p.Asp2012His) | |
| 6 | g.7585093G= | CA1608613225 | DSP | c.6502G= (p.Asp2168=) c.7831G= (p.Asp2611=) c.6034G= (p.Asp2012=) | |
| 6 | g.7585093G>T | CA362693873 | DSP | c.6502G>T (p.Asp2168Tyr) c.7831G>T (p.Asp2611Tyr) c.6034G>T (p.Asp2012Tyr) | ClinVar |
| 6 | g.7585095_7585103del | CA2573052741 | DSP | c.6504_6512del (p.Asp2168_Leu2170del) c.7833_7841del (p.Asp2611_Leu2613del) c.6036_6044del (p.Asp2012_Leu2014del) | ClinVar dbSNP |
| 6 | g.7585094A>C | CA362693874 | DSP | c.6503A>C (p.Asp2168Ala) c.7832A>C (p.Asp2611Ala) c.6035A>C (p.Asp2012Ala) | |
| 6 | g.7585094A>G | CA362693875 | DSP | c.6503A>G (p.Asp2168Gly) c.7832A>G (p.Asp2611Gly) c.6035A>G (p.Asp2012Gly) | |
| 6 | g.7585094A>T | CA362693876 | DSP | c.6503A>T (p.Asp2168Val) c.7832A>T (p.Asp2611Val) c.6035A>T (p.Asp2012Val) | ClinVar gnomAD v4 |
| 6 | g.7585095C>A | CA362693877 | DSP | c.6504C>A (p.Asp2168Glu) c.7833C>A (p.Asp2611Glu) c.6036C>A (p.Asp2012Glu) | COSMIC |
| 6 | g.7585095C>G | CA362693878 | DSP | c.6504C>G (p.Asp2168Glu) c.7833C>G (p.Asp2611Glu) c.6036C>G (p.Asp2012Glu) | |
| 6 | g.7585095C>T | CA448716636 | DSP | c.6504C>T (p.Asp2168=) c.7833C>T (p.Asp2611=) c.6036C>T (p.Asp2012=) | |
| 6 | g.7585096A= | CA1608613235 | DSP | c.6505A= (p.Thr2169=) c.7834A= (p.Thr2612=) c.6037A= (p.Thr2013=) | |
| 6 | g.7585096A>C | CA362693879 | DSP | c.6505A>C (p.Thr2169Pro) c.7834A>C (p.Thr2612Pro) c.6037A>C (p.Thr2013Pro) | dbSNP |
| 6 | g.7585096A>G | CA362693881 | DSP | c.6505A>G (p.Thr2169Ala) c.7834A>G (p.Thr2612Ala) c.6037A>G (p.Thr2013Ala) | |
| 6 | g.7585096A>T | CA362693880 | DSP | c.6505A>T (p.Thr2169Ser) c.7834A>T (p.Thr2612Ser) c.6037A>T (p.Thr2013Ser) | |
| 6 | g.7585097C>A | CA362693882 | DSP | c.6506C>A (p.Thr2169Asn) c.7835C>A (p.Thr2612Asn) c.6038C>A (p.Thr2013Asn) | |
| 6 | g.7585097C>G | CA362693883 | DSP | c.6506C>G (p.Thr2169Ser) c.7835C>G (p.Thr2612Ser) c.6038C>G (p.Thr2013Ser) | |
| 6 | g.7585097C>T | CA362693884 | DSP | c.6506C>T (p.Thr2169Ile) c.7835C>T (p.Thr2612Ile) c.6038C>T (p.Thr2013Ile) | |
| 6 | g.7585098C>A | CA448716642 | DSP | c.6507C>A (p.Thr2169=) c.7836C>A (p.Thr2612=) c.6039C>A (p.Thr2013=) | |
| 6 | g.7585098C= | CA1608613243 | DSP | c.6507C= (p.Thr2169=) c.7836C= (p.Thr2612=) c.6039C= (p.Thr2013=) | |
| 6 | g.7585098C>G | CA050926 | DSP | c.6507C>G (p.Thr2169=) c.7836C>G (p.Thr2612=) c.6039C>G (p.Thr2013=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585098C>T | CA448716643 | DSP | c.6507C>T (p.Thr2169=) c.7836C>T (p.Thr2612=) c.6039C>T (p.Thr2013=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585099C>A | CA362693885 | DSP | c.6508C>A (p.Leu2170Met) c.7837C>A (p.Leu2613Met) c.6040C>A (p.Leu2014Met) | |
| 6 | g.7585099C= | CA1608613250 | DSP | c.6508C= (p.Leu2170=) c.7837C= (p.Leu2613=) c.6040C= (p.Leu2014=) | |
| 6 | g.7585099C>G | CA362693886 | DSP | c.6508C>G (p.Leu2170Val) c.7837C>G (p.Leu2613Val) c.6040C>G (p.Leu2014Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585099C>T | CA448716648 | DSP | c.6508C>T (p.Leu2170=) c.7837C>T (p.Leu2613=) c.6040C>T (p.Leu2014=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585100T>A | CA362693887 | DSP | c.6509T>A (p.Leu2170Gln) c.7838T>A (p.Leu2613Gln) c.6041T>A (p.Leu2014Gln) | |
| 6 | g.7585100T>C | CA362693888 | DSP | c.6509T>C (p.Leu2170Pro) c.7838T>C (p.Leu2613Pro) c.6041T>C (p.Leu2014Pro) | ClinVar dbSNP |
| 6 | g.7585100T>G | CA362693889 | DSP | c.6509T>G (p.Leu2170Arg) c.7838T>G (p.Leu2613Arg) c.6041T>G (p.Leu2014Arg) | |
| 6 | g.7585100T= | CA1608613270 | DSP | c.6509T= (p.Leu2170=) c.7838T= (p.Leu2613=) c.6041T= (p.Leu2014=) | |
| 6 | g.7585101G>A | CA050929 | DSP | c.6510G>A (p.Leu2170=) c.7839G>A (p.Leu2613=) c.6042G>A (p.Leu2014=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585101G>C | CA448716762 | DSP | c.6510G>C (p.Leu2170=) c.7839G>C (p.Leu2613=) c.6042G>C (p.Leu2014=) | |
| 6 | g.7585101G= | CA1608613276 | DSP | c.6510G= (p.Leu2170=) c.7839G= (p.Leu2613=) c.6042G= (p.Leu2014=) | |
| 6 | g.7585101G>T | CA448716764 | DSP | c.6510G>T (p.Leu2170=) c.7839G>T (p.Leu2613=) c.6042G>T (p.Leu2014=) | |
| 6 | g.7585102G>A | CA362693890 | DSP | c.6511G>A (p.Glu2171Lys) c.7840G>A (p.Glu2614Lys) c.6043G>A (p.Glu2015Lys) | COSMIC |
| 6 | g.7585102G>C | CA362693891 | DSP | c.6511G>C (p.Glu2171Gln) c.7840G>C (p.Glu2614Gln) c.6043G>C (p.Glu2015Gln) | |
| 6 | g.7585102G>T | CA362693892 | DSP | c.6511G>T (p.Glu2171Ter) c.7840G>T (p.Glu2614Ter) c.6043G>T (p.Glu2015Ter) | |
| 6 | g.7585103A>C | CA362693895 | DSP | c.6512A>C (p.Glu2171Ala) c.7841A>C (p.Glu2614Ala) c.6044A>C (p.Glu2015Ala) | |
| 6 | g.7585103A>G | CA362693894 | DSP | c.6512A>G (p.Glu2171Gly) c.7841A>G (p.Glu2614Gly) c.6044A>G (p.Glu2015Gly) | |
| 6 | g.7585103A>T | CA362693893 | DSP | c.6512A>T (p.Glu2171Val) c.7841A>T (p.Glu2614Val) c.6044A>T (p.Glu2015Val) | |
| 6 | g.7585104A>C | CA362693896 | DSP | c.6513A>C (p.Glu2171Asp) c.7842A>C (p.Glu2614Asp) c.6045A>C (p.Glu2015Asp) | |
| 6 | g.7585104A>G | CA448716772 | DSP | c.6513A>G (p.Glu2171=) c.7842A>G (p.Glu2614=) c.6045A>G (p.Glu2015=) | |
| 6 | g.7585104A>T | CA362693897 | DSP | c.6513A>T (p.Glu2171Asp) c.7842A>T (p.Glu2614Asp) c.6045A>T (p.Glu2015Asp) | |
| 6 | g.7585105G>A | CA362693898 | DSP | c.6514G>A (p.Glu2172Lys) c.7843G>A (p.Glu2615Lys) c.6046G>A (p.Glu2016Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585105G>C | CA362693899 | DSP | c.6514G>C (p.Glu2172Gln) c.7843G>C (p.Glu2615Gln) c.6046G>C (p.Glu2016Gln) | |
| 6 | g.7585105G= | CA1608613279 | DSP | c.6514G= (p.Glu2172=) c.7843G= (p.Glu2615=) c.6046G= (p.Glu2016=) | |
| 6 | g.7585105G>T | CA362693900 | DSP | c.6514G>T (p.Glu2172Ter) c.7843G>T (p.Glu2615Ter) c.6046G>T (p.Glu2016Ter) | |
| 6 | g.7585106A= | CA1608613286 | DSP | c.6515A= (p.Glu2172=) c.7844A= (p.Glu2615=) c.6047A= (p.Glu2016=) | |
| 6 | g.7585106A>C | CA362693901 | DSP | c.6515A>C (p.Glu2172Ala) c.7844A>C (p.Glu2615Ala) c.6047A>C (p.Glu2016Ala) | |
| 6 | g.7585106A>G | CA362693902 | DSP | c.6515A>G (p.Glu2172Gly) c.7844A>G (p.Glu2615Gly) c.6047A>G (p.Glu2016Gly) | |
| 6 | g.7585106A>T | CA362693903 | DSP | c.6515A>T (p.Glu2172Val) c.7844A>T (p.Glu2615Val) c.6047A>T (p.Glu2016Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585107A= | CA1608613288 | DSP | c.6516A= (p.Glu2172=) c.7845A= (p.Glu2615=) c.6048A= (p.Glu2016=) | |
| 6 | g.7585107A>C | CA362693904 | DSP | c.6516A>C (p.Glu2172Asp) c.7845A>C (p.Glu2615Asp) c.6048A>C (p.Glu2016Asp) | ClinVar dbSNP |
| 6 | g.7585107A>G | CA448716778 | DSP | c.6516A>G (p.Glu2172=) c.7845A>G (p.Glu2615=) c.6048A>G (p.Glu2016=) | gnomAD v4 |
| 6 | g.7585107A>T | CA362693905 | DSP | c.6516A>T (p.Glu2172Asp) c.7845A>T (p.Glu2615Asp) c.6048A>T (p.Glu2016Asp) | |
| 6 | g.7585108T>A | CA362693906 | DSP | c.6517T>A (p.Ser2173Thr) c.7846T>A (p.Ser2616Thr) c.6049T>A (p.Ser2017Thr) | |
| 6 | g.7585108T>C | CA362693907 | DSP | c.6517T>C (p.Ser2173Pro) c.7846T>C (p.Ser2616Pro) c.6049T>C (p.Ser2017Pro) | |
| 6 | g.7585108T>G | CA362693908 | DSP | c.6517T>G (p.Ser2173Ala) c.7846T>G (p.Ser2616Ala) c.6049T>G (p.Ser2017Ala) | |
| 6 | g.7585109C>A | CA362693909 | DSP | c.6518C>A (p.Ser2173Ter) c.7847C>A (p.Ser2616Ter) c.6050C>A (p.Ser2017Ter) | |
| 6 | g.7585109C= | CA1608613291 | DSP | c.6518C= (p.Ser2173=) c.7847C= (p.Ser2616=) c.6050C= (p.Ser2017=) | |
| 6 | g.7585109C>G | CA362693910 | DSP | c.6518C>G (p.Ser2173Trp) c.7847C>G (p.Ser2616Trp) c.6050C>G (p.Ser2017Trp) | |
| 6 | g.7585109C>T | CA050952 | DSP | c.6518C>T (p.Ser2173Leu) c.7847C>T (p.Ser2616Leu) c.6050C>T (p.Ser2017Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585110G>A | CA050967 | DSP | c.6519G>A (p.Ser2173=) c.7848G>A (p.Ser2616=) c.6051G>A (p.Ser2017=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585110G>C | CA448716784 | DSP | c.6519G>C (p.Ser2173=) c.7848G>C (p.Ser2616=) c.6051G>C (p.Ser2017=) | gnomAD v4 |
| 6 | g.7585110G= | CA1608613297 | DSP | c.6519G= (p.Ser2173=) c.7848G= (p.Ser2616=) c.6051G= (p.Ser2017=) | |
| 6 | g.7585110G>T | CA448716783 | DSP | c.6519G>T (p.Ser2173=) c.7848G>T (p.Ser2616=) c.6051G>T (p.Ser2017=) | |
| 6 | g.7585111A>C | CA362693911 | DSP | c.6520A>C (p.Ser2174Arg) c.7849A>C (p.Ser2617Arg) c.6052A>C (p.Ser2018Arg) | |
| 6 | g.7585111A>G | CA362693912 | DSP | c.6520A>G (p.Ser2174Gly) c.7849A>G (p.Ser2617Gly) c.6052A>G (p.Ser2018Gly) | |
| 6 | g.7585111A>T | CA362693913 | DSP | c.6520A>T (p.Ser2174Cys) c.7849A>T (p.Ser2617Cys) c.6052A>T (p.Ser2018Cys) | |
| 6 | g.7585112G>A | CA050983 | DSP | c.6521G>A (p.Ser2174Asn) c.7850G>A (p.Ser2617Asn) c.6053G>A (p.Ser2018Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585112G>C | CA362693914 | DSP | c.6521G>C (p.Ser2174Thr) c.7850G>C (p.Ser2617Thr) c.6053G>C (p.Ser2018Thr) | |
| 6 | g.7585112G= | CA1608613308 | DSP | c.6521G= (p.Ser2174=) c.7850G= (p.Ser2617=) c.6053G= (p.Ser2018=) | |
| 6 | g.7585112G>T | CA362693915 | DSP | c.6521G>T (p.Ser2174Ile) c.7850G>T (p.Ser2617Ile) c.6053G>T (p.Ser2018Ile) | |
| 6 | g.7585113C>A | CA362693916 | DSP | c.6522C>A (p.Ser2174Arg) c.7851C>A (p.Ser2617Arg) c.6054C>A (p.Ser2018Arg) | |
| 6 | g.7585113C= | CA1608613318 | DSP | c.6522C= (p.Ser2174=) c.7851C= (p.Ser2617=) c.6054C= (p.Ser2018=) | |
| 6 | g.7585113C>G | CA362693917 | DSP | c.6522C>G (p.Ser2174Arg) c.7851C>G (p.Ser2617Arg) c.6054C>G (p.Ser2018Arg) | |
| 6 | g.7585113C>T | CA448716788 | DSP | c.6522C>T (p.Ser2174=) c.7851C>T (p.Ser2617=) c.6054C>T (p.Ser2018=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585114C>A | CA362693918 | DSP | c.6523C>A (p.Pro2175Thr) c.7852C>A (p.Pro2618Thr) c.6055C>A (p.Pro2019Thr) | |
| 6 | g.7585114C= | CA1608613322 | DSP | c.6523C= (p.Pro2175=) c.7852C= (p.Pro2618=) c.6055C= (p.Pro2019=) | |
| 6 | g.7585114C>G | CA362693919 | DSP | c.6523C>G (p.Pro2175Ala) c.7852C>G (p.Pro2618Ala) c.6055C>G (p.Pro2019Ala) | |
| 6 | g.7585114C>T | CA050995 | DSP | c.6523C>T (p.Pro2175Ser) c.7852C>T (p.Pro2618Ser) c.6055C>T (p.Pro2019Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585115C>A | CA362693922 | DSP | c.6524C>A (p.Pro2175His) c.7853C>A (p.Pro2618His) c.6056C>A (p.Pro2019His) | |
| 6 | g.7585115C>G | CA362693920 | DSP | c.6524C>G (p.Pro2175Arg) c.7853C>G (p.Pro2618Arg) c.6056C>G (p.Pro2019Arg) | |
| 6 | g.7585115C>T | CA362693921 | DSP | c.6524C>T (p.Pro2175Leu) c.7853C>T (p.Pro2618Leu) c.6056C>T (p.Pro2019Leu) | |
| 6 | g.7585116C>A | CA448716794 | DSP | c.6525C>A (p.Pro2175=) c.7854C>A (p.Pro2618=) c.6057C>A (p.Pro2019=) | |
| 6 | g.7585116C= | CA1608613328 | DSP | c.6525C= (p.Pro2175=) c.7854C= (p.Pro2618=) c.6057C= (p.Pro2019=) | |
| 6 | g.7585116C>G | CA051011 | DSP | c.6525C>G (p.Pro2175=) c.7854C>G (p.Pro2618=) c.6057C>G (p.Pro2019=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585116C>T | CA448716795 | DSP | c.6525C>T (p.Pro2175=) c.7854C>T (p.Pro2618=) c.6057C>T (p.Pro2019=) | gnomAD v4 |
| 6 | g.7585117A= | CA1608613335 | DSP | c.6526A= (p.Ile2176=) c.7855A= (p.Ile2619=) c.6058A= (p.Ile2020=) | |
| 6 | g.7585117A>C | CA362693923 | DSP | c.6526A>C (p.Ile2176Leu) c.7855A>C (p.Ile2619Leu) c.6058A>C (p.Ile2020Leu) | |
| 6 | g.7585117A>G | CA051024 | DSP | c.6526A>G (p.Ile2176Val) c.7855A>G (p.Ile2619Val) c.6058A>G (p.Ile2020Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585117A>T | CA362693924 | DSP | c.6526A>T (p.Ile2176Phe) c.7855A>T (p.Ile2619Phe) c.6058A>T (p.Ile2020Phe) | |
| 6 | g.7585118T>A | CA362693925 | DSP | c.6527T>A (p.Ile2176Asn) c.7856T>A (p.Ile2619Asn) c.6059T>A (p.Ile2020Asn) | |
| 6 | g.7585118T>C | CA362693926 | DSP | c.6527T>C (p.Ile2176Thr) c.7856T>C (p.Ile2619Thr) c.6059T>C (p.Ile2020Thr) | gnomAD v4 COSMIC |
| 6 | g.7585118T>G | CA362693927 | DSP | c.6527T>G (p.Ile2176Ser) c.7856T>G (p.Ile2619Ser) c.6059T>G (p.Ile2020Ser) | |
| 6 | g.7585119T>A | CA448716800 | DSP | c.6528T>A (p.Ile2176=) c.7857T>A (p.Ile2619=) c.6060T>A (p.Ile2020=) | |
| 6 | g.7585119T>C | CA448716802 | DSP | c.6528T>C (p.Ile2176=) c.7857T>C (p.Ile2619=) c.6060T>C (p.Ile2020=) | ClinVar gnomAD v4 |
| 6 | g.7585119T>G | CA362693928 | DSP | c.6528T>G (p.Ile2176Met) c.7857T>G (p.Ile2619Met) c.6060T>G (p.Ile2020Met) | |
| 6 | g.7585120G>A | CA362693929 | DSP | c.6529G>A (p.Ala2177Thr) c.7858G>A (p.Ala2620Thr) c.6061G>A (p.Ala2021Thr) | |
| 6 | g.7585120G>C | CA362693930 | DSP | c.6529G>C (p.Ala2177Pro) c.7858G>C (p.Ala2620Pro) c.6061G>C (p.Ala2021Pro) | |
| 6 | g.7585120G= | CA1608613342 | DSP | c.6529G= (p.Ala2177=) c.7858G= (p.Ala2620=) c.6061G= (p.Ala2021=) | |
| 6 | g.7585120G>T | CA362693931 | DSP | c.6529G>T (p.Ala2177Ser) c.7858G>T (p.Ala2620Ser) c.6061G>T (p.Ala2021Ser) | dbSNP gnomAD v2 |
| 6 | g.7585121C>A | CA362693934 | DSP | c.6530C>A (p.Ala2177Glu) c.7859C>A (p.Ala2620Glu) c.6062C>A (p.Ala2021Glu) | |
| 6 | g.7585121C>G | CA362693933 | DSP | c.6530C>G (p.Ala2177Gly) c.7859C>G (p.Ala2620Gly) c.6062C>G (p.Ala2021Gly) | |
| 6 | g.7585121C>T | CA362693932 | DSP | c.6530C>T (p.Ala2177Val) c.7859C>T (p.Ala2620Val) c.6062C>T (p.Ala2021Val) | gnomAD v4 |
| 6 | g.7585122A>C | CA448716810 | DSP | c.6531A>C (p.Ala2177=) c.7860A>C (p.Ala2620=) c.6063A>C (p.Ala2021=) | |
| 6 | g.7585122A>G | CA448716813 | DSP | c.6531A>G (p.Ala2177=) c.7860A>G (p.Ala2620=) c.6063A>G (p.Ala2021=) | |
| 6 | g.7585122A>T | CA448716814 | DSP | c.6531A>T (p.Ala2177=) c.7860A>T (p.Ala2620=) c.6063A>T (p.Ala2021=) | |
| 6 | g.7585123G>A | CA362693936 | DSP | c.6532G>A (p.Ala2178Thr) c.7861G>A (p.Ala2621Thr) c.6064G>A (p.Ala2022Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585123G>C | CA362693935 | DSP | c.6532G>C (p.Ala2178Pro) c.7861G>C (p.Ala2621Pro) c.6064G>C (p.Ala2022Pro) | |
| 6 | g.7585123G= | CA1608613348 | DSP | c.6532G= (p.Ala2178=) c.7861G= (p.Ala2621=) c.6064G= (p.Ala2022=) | |
| 6 | g.7585123G>T | CA362693937 | DSP | c.6532G>T (p.Ala2178Ser) c.7861G>T (p.Ala2621Ser) c.6064G>T (p.Ala2022Ser) | |
| 6 | g.7585124C>A | CA362693938 | DSP | c.6533C>A (p.Ala2178Asp) c.7862C>A (p.Ala2621Asp) c.6065C>A (p.Ala2022Asp) | |
| 6 | g.7585124C>G | CA362693940 | DSP | c.6533C>G (p.Ala2178Gly) c.7862C>G (p.Ala2621Gly) c.6065C>G (p.Ala2022Gly) | |
| 6 | g.7585124C>T | CA362693939 | DSP | c.6533C>T (p.Ala2178Val) c.7862C>T (p.Ala2621Val) c.6065C>T (p.Ala2022Val) | gnomAD v4 |
| 6 | g.7585125del | CA913188243 | DSP | c.6534del (p.Ile2179SerfsTer16) c.7863del (p.Ile2622SerfsTer16) c.6066del (p.Ile2023SerfsTer16) | |
| 6 | g.7585125C>A | CA448716822 | DSP | c.6534C>A (p.Ala2178=) c.7863C>A (p.Ala2621=) c.6066C>A (p.Ala2022=) | |
| 6 | g.7585125C>G | CA448716823 | DSP | c.6534C>G (p.Ala2178=) c.7863C>G (p.Ala2621=) c.6066C>G (p.Ala2022=) | |
| 6 | g.7585125C>T | CA448716824 | DSP | c.6534C>T (p.Ala2178=) c.7863C>T (p.Ala2621=) c.6066C>T (p.Ala2022=) | |
| 6 | g.7585126A= | CA1608613358 | DSP | c.6535A= (p.Ile2179=) c.7864A= (p.Ile2622=) c.6067A= (p.Ile2023=) | |
| 6 | g.7585126A>C | CA362693941 | DSP | c.6535A>C (p.Ile2179Leu) c.7864A>C (p.Ile2622Leu) c.6067A>C (p.Ile2023Leu) | |
| 6 | g.7585126A>G | CA007306 | DSP | c.6535A>G (p.Ile2179Val) c.7864A>G (p.Ile2622Val) c.6067A>G (p.Ile2023Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585126A>T | CA362693942 | DSP | c.6535A>T (p.Ile2179Phe) c.7864A>T (p.Ile2622Phe) c.6067A>T (p.Ile2023Phe) | |
| 6 | g.7585127T>A | CA362693943 | DSP | c.6536T>A (p.Ile2179Asn) c.7865T>A (p.Ile2622Asn) c.6068T>A (p.Ile2023Asn) | |
| 6 | g.7585127T>C | CA362693944 | DSP | c.6536T>C (p.Ile2179Thr) c.7865T>C (p.Ile2622Thr) c.6068T>C (p.Ile2023Thr) | |
| 6 | g.7585127T>G | CA362693945 | DSP | c.6536T>G (p.Ile2179Ser) c.7865T>G (p.Ile2622Ser) c.6068T>G (p.Ile2023Ser) | |
| 6 | g.7585128C>A | CA448716827 | DSP | c.6537C>A (p.Ile2179=) c.7866C>A (p.Ile2622=) c.6069C>A (p.Ile2023=) | |
| 6 | g.7585128C>G | CA362693946 | DSP | c.6537C>G (p.Ile2179Met) c.7866C>G (p.Ile2622Met) c.6069C>G (p.Ile2023Met) | |
| 6 | g.7585128C>T | CA448716828 | DSP | c.6537C>T (p.Ile2179=) c.7866C>T (p.Ile2622=) c.6069C>T (p.Ile2023=) | |
| 6 | g.7585129T>A | CA362693947 | DSP | c.6538T>A (p.Phe2180Ile) c.7867T>A (p.Phe2623Ile) c.6070T>A (p.Phe2024Ile) | |
| 6 | g.7585129T>C | CA362693948 | DSP | c.6538T>C (p.Phe2180Leu) c.7867T>C (p.Phe2623Leu) c.6070T>C (p.Phe2024Leu) | |
| 6 | g.7585129T>G | CA362693949 | DSP | c.6538T>G (p.Phe2180Val) c.7867T>G (p.Phe2623Val) c.6070T>G (p.Phe2024Val) | |
| 6 | g.7585130T>A | CA362693950 | DSP | c.6539T>A (p.Phe2180Tyr) c.7868T>A (p.Phe2623Tyr) c.6071T>A (p.Phe2024Tyr) | |
| 6 | g.7585130T>C | CA362693951 | DSP | c.6539T>C (p.Phe2180Ser) c.7868T>C (p.Phe2623Ser) c.6071T>C (p.Phe2024Ser) | gnomAD v4 |
| 6 | g.7585130T>G | CA362693952 | DSP | c.6539T>G (p.Phe2180Cys) c.7868T>G (p.Phe2623Cys) c.6071T>G (p.Phe2024Cys) | ClinVar |
| 6 | g.7585131T>A | CA362693953 | DSP | c.6540T>A (p.Phe2180Leu) c.7869T>A (p.Phe2623Leu) c.6072T>A (p.Phe2024Leu) | |
| 6 | g.7585131T>C | CA448716834 | DSP | c.6540T>C (p.Phe2180=) c.7869T>C (p.Phe2623=) c.6072T>C (p.Phe2024=) | |
| 6 | g.7585131T>G | CA362693954 | DSP | c.6540T>G (p.Phe2180Leu) c.7869T>G (p.Phe2623Leu) c.6072T>G (p.Phe2024Leu) | |
| 6 | g.7585131_7585132insA | CA2695206017 | DSP | c.6540_6541insA (p.Asp2181ArgfsTer20) c.7869_7870insA (p.Asp2624ArgfsTer20) c.6072_6073insA (p.Asp2025ArgfsTer20) | |
| 6 | g.7585132G>A | CA133976737 | DSP | c.6541G>A (p.Asp2181Asn) c.7870G>A (p.Asp2624Asn) c.6073G>A (p.Asp2025Asn) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7585132G>C | CA362693955 | DSP | c.6541G>C (p.Asp2181His) c.7870G>C (p.Asp2624His) c.6073G>C (p.Asp2025His) | |
| 6 | g.7585132G= | CA1608613363 | DSP | c.6541G= (p.Asp2181=) c.7870G= (p.Asp2624=) c.6073G= (p.Asp2025=) | |
| 6 | g.7585132G>T | CA362693956 | DSP | c.6541G>T (p.Asp2181Tyr) c.7870G>T (p.Asp2624Tyr) c.6073G>T (p.Asp2025Tyr) | |
| 6 | g.7585132_7585134delinsGAC | CA1608613364 | DSP | c.6541_6543delinsGAC (p.Asp2181=) c.7870_7872delinsGAC (p.Asp2624=) c.6073_6075delinsGAC (p.Asp2025=) | |
| 6 | g.7585133A= | CA1608613371 | DSP | c.6542A= (p.Asp2181=) c.7871A= (p.Asp2624=) c.6074A= (p.Asp2025=) | |
| 6 | g.7585133A>C | CA362693957 | DSP | c.6542A>C (p.Asp2181Ala) c.7871A>C (p.Asp2624Ala) c.6074A>C (p.Asp2025Ala) | |
| 6 | g.7585133A>G | CA362693958 | DSP | c.6542A>G (p.Asp2181Gly) c.7871A>G (p.Asp2624Gly) c.6074A>G (p.Asp2025Gly) | ClinVar dbSNP |
| 6 | g.7585133A>T | CA362693959 | DSP | c.6542A>T (p.Asp2181Val) c.7871A>T (p.Asp2624Val) c.6074A>T (p.Asp2025Val) | dbSNP |
| 6 | g.7585136_7585137del | CA891843183 | DSP | c.6545_6546del (p.Thr2182ArgfsTer18) c.7874_7875del (p.Thr2625ArgfsTer18) c.6077_6078del (p.Thr2026ArgfsTer18) | ClinVar dbSNP |
| 6 | g.7585134C>A | CA362693960 | DSP | c.6543C>A (p.Asp2181Glu) c.7872C>A (p.Asp2624Glu) c.6075C>A (p.Asp2025Glu) | |
| 6 | g.7585134C= | CA1608613390 | DSP | c.6543C= (p.Asp2181=) c.7872C= (p.Asp2624=) c.6075C= (p.Asp2025=) | |
| 6 | g.7585134C>G | CA362693961 | DSP | c.6543C>G (p.Asp2181Glu) c.7872C>G (p.Asp2624Glu) c.6075C>G (p.Asp2025Glu) | |
| 6 | g.7585134C>T | CA133976747 | DSP | c.6543C>T (p.Asp2181=) c.7872C>T (p.Asp2624=) c.6075C>T (p.Asp2025=) | ClinVar dbSNP |
| 6 | g.7585135A= | CA1608613403 | DSP | c.6544A= (p.Thr2182=) c.7873A= (p.Thr2625=) c.6076A= (p.Thr2026=) | |
| 6 | g.7585135A>C | CA362693962 | DSP | c.6544A>C (p.Thr2182Pro) c.7873A>C (p.Thr2625Pro) c.6076A>C (p.Thr2026Pro) | dbSNP |
| 6 | g.7585135A>G | CA362693963 | DSP | c.6544A>G (p.Thr2182Ala) c.7873A>G (p.Thr2625Ala) c.6076A>G (p.Thr2026Ala) | |
| 6 | g.7585135A>T | CA362693964 | DSP | c.6544A>T (p.Thr2182Ser) c.7873A>T (p.Thr2625Ser) c.6076A>T (p.Thr2026Ser) | |
| 6 | g.7585135dup | CA303946 | DSP | c.6544dup (p.Thr2182AsnfsTer19) c.7873dup (p.Thr2625AsnfsTer19) c.6076dup (p.Thr2026AsnfsTer19) | ClinVar dbSNP |
| 6 | g.7585136C>A | CA362693967 | DSP | c.6545C>A (p.Thr2182Lys) c.7874C>A (p.Thr2625Lys) c.6077C>A (p.Thr2026Lys) | |
| 6 | g.7585136C>G | CA362693966 | DSP | c.6545C>G (p.Thr2182Arg) c.7874C>G (p.Thr2625Arg) c.6077C>G (p.Thr2026Arg) | |
| 6 | g.7585136C>T | CA362693965 | DSP | c.6545C>T (p.Thr2182Ile) c.7874C>T (p.Thr2625Ile) c.6077C>T (p.Thr2026Ile) | |
| 6 | g.7585137A= | CA1608613410 | DSP | c.6546A= (p.Thr2182=) c.7875A= (p.Thr2625=) c.6078A= (p.Thr2026=) | |
| 6 | g.7585137A>C | CA448716842 | DSP | c.6546A>C (p.Thr2182=) c.7875A>C (p.Thr2625=) c.6078A>C (p.Thr2026=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585137A>G | CA051040 | DSP | c.6546A>G (p.Thr2182=) c.7875A>G (p.Thr2625=) c.6078A>G (p.Thr2026=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585137A>T | CA448716844 | DSP | c.6546A>T (p.Thr2182=) c.7875A>T (p.Thr2625=) c.6078A>T (p.Thr2026=) | |
| 6 | g.7585138_7585139del | CA2580075387 | DSP | c.6547_6548del (p.Glu2183LysfsTer17) c.7876_7877del (p.Glu2626LysfsTer17) c.6079_6080del (p.Glu2027LysfsTer17) | ClinVar |
| 6 | g.7585138G>A | CA362693968 | DSP | c.6547G>A (p.Glu2183Lys) c.7876G>A (p.Glu2626Lys) c.6079G>A (p.Glu2027Lys) | |
| 6 | g.7585138G>C | CA051049 | DSP | c.6547G>C (p.Glu2183Gln) c.7876G>C (p.Glu2626Gln) c.6079G>C (p.Glu2027Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585138G= | CA1608613414 | DSP | c.6547G= (p.Glu2183=) c.7876G= (p.Glu2626=) c.6079G= (p.Glu2027=) | |
| 6 | g.7585138G>T | CA362693969 | DSP | c.6547G>T (p.Glu2183Ter) c.7876G>T (p.Glu2626Ter) c.6079G>T (p.Glu2027Ter) | |
| 6 | g.7585139A>C | CA362693970 | DSP | c.6548A>C (p.Glu2183Ala) c.7877A>C (p.Glu2626Ala) c.6080A>C (p.Glu2027Ala) | |
| 6 | g.7585139A>G | CA362693971 | DSP | c.6548A>G (p.Glu2183Gly) c.7877A>G (p.Glu2626Gly) c.6080A>G (p.Glu2027Gly) | |
| 6 | g.7585139A>T | CA362693972 | DSP | c.6548A>T (p.Glu2183Val) c.7877A>T (p.Glu2626Val) c.6080A>T (p.Glu2027Val) | |
| 6 | g.7585140A>C | CA362693973 | DSP | c.6549A>C (p.Glu2183Asp) c.7878A>C (p.Glu2626Asp) c.6081A>C (p.Glu2027Asp) | |
| 6 | g.7585140A>G | CA448716847 | DSP | c.6549A>G (p.Glu2183=) c.7878A>G (p.Glu2626=) c.6081A>G (p.Glu2027=) | |
| 6 | g.7585140A>T | CA362693974 | DSP | c.6549A>T (p.Glu2183Asp) c.7878A>T (p.Glu2626Asp) c.6081A>T (p.Glu2027Asp) | |
| 6 | g.7585141A>C | CA362693975 | DSP | c.6550A>C (p.Asn2184His) c.7879A>C (p.Asn2627His) c.6082A>C (p.Asn2028His) | |
| 6 | g.7585141A>G | CA362693976 | DSP | c.6550A>G (p.Asn2184Asp) c.7879A>G (p.Asn2627Asp) c.6082A>G (p.Asn2028Asp) | |
| 6 | g.7585141A>T | CA362693977 | DSP | c.6550A>T (p.Asn2184Tyr) c.7879A>T (p.Asn2627Tyr) c.6082A>T (p.Asn2028Tyr) | |
| 6 | g.7585141_7585142insCCAAACACACCCAACAC | CA2769903931 | DSP | c.6550_6551insCCAAACACACCCAACAC (p.Asn2184ThrfsTer17) c.7879_7880insCCAAACACACCCAACAC (p.Asn2627ThrfsTer17) c.6082_6083insCCAAACACACCCAACAC (p.Asn2028ThrfsTer17) | |
| 6 | g.7585142A>C | CA362693980 | DSP | c.6551A>C (p.Asn2184Thr) c.7880A>C (p.Asn2627Thr) c.6083A>C (p.Asn2028Thr) | |
| 6 | g.7585142A>G | CA362693979 | DSP | c.6551A>G (p.Asn2184Ser) c.7880A>G (p.Asn2627Ser) c.6083A>G (p.Asn2028Ser) | |
| 6 | g.7585142A>T | CA362693978 | DSP | c.6551A>T (p.Asn2184Ile) c.7880A>T (p.Asn2627Ile) c.6083A>T (p.Asn2028Ile) | |
| 6 | g.7585143C>A | CA362693981 | DSP | c.6552C>A (p.Asn2184Lys) c.7881C>A (p.Asn2627Lys) c.6084C>A (p.Asn2028Lys) | |
| 6 | g.7585143C>G | CA362693982 | DSP | c.6552C>G (p.Asn2184Lys) c.7881C>G (p.Asn2627Lys) c.6084C>G (p.Asn2028Lys) | |
| 6 | g.7585143C>T | CA448716857 | DSP | c.6552C>T (p.Asn2184=) c.7881C>T (p.Asn2627=) c.6084C>T (p.Asn2028=) | |
| 6 | g.7585144C>A | CA362693983 | DSP | c.6553C>A (p.Leu2185Met) c.7882C>A (p.Leu2628Met) c.6085C>A (p.Leu2029Met) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585144C= | CA1608613420 | DSP | c.6553C= (p.Leu2185=) c.7882C= (p.Leu2628=) c.6085C= (p.Leu2029=) | |
| 6 | g.7585144C>G | CA362693984 | DSP | c.6553C>G (p.Leu2185Val) c.7882C>G (p.Leu2628Val) c.6085C>G (p.Leu2029Val) | |
| 6 | g.7585144C>T | CA448716859 | DSP | c.6553C>T (p.Leu2185=) c.7882C>T (p.Leu2628=) c.6085C>T (p.Leu2029=) | gnomAD v4 |
| 6 | g.7585145T>A | CA362693985 | DSP | c.6554T>A (p.Leu2185Gln) c.7883T>A (p.Leu2628Gln) c.6086T>A (p.Leu2029Gln) | |
| 6 | g.7585145T>C | CA051060 | DSP | c.6554T>C (p.Leu2185Pro) c.7883T>C (p.Leu2628Pro) c.6086T>C (p.Leu2029Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585145T>G | CA362693986 | DSP | c.6554T>G (p.Leu2185Arg) c.7883T>G (p.Leu2628Arg) c.6086T>G (p.Leu2029Arg) | |
| 6 | g.7585145T= | CA1608613429 | DSP | c.6554T= (p.Leu2185=) c.7883T= (p.Leu2628=) c.6086T= (p.Leu2029=) | |
| 6 | g.7585146G>A | CA448716863 | DSP | c.6555G>A (p.Leu2185=) c.7884G>A (p.Leu2628=) c.6087G>A (p.Leu2029=) | dbSNP gnomAD v4 |
| 6 | g.7585146G>C | CA448716864 | DSP | c.6555G>C (p.Leu2185=) c.7884G>C (p.Leu2628=) c.6087G>C (p.Leu2029=) | |
| 6 | g.7585146G>T | CA448716865 | DSP | c.6555G>T (p.Leu2185=) c.7884G>T (p.Leu2628=) c.6087G>T (p.Leu2029=) | |
| 6 | g.7585147G>A | CA051071 | DSP | c.6556G>A (p.Glu2186Lys) c.7885G>A (p.Glu2629Lys) c.6088G>A (p.Glu2030Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585147G>C | CA362693987 | DSP | c.6556G>C (p.Glu2186Gln) c.7885G>C (p.Glu2629Gln) c.6088G>C (p.Glu2030Gln) | gnomAD v4 |
| 6 | g.7585147G= | CA1608613433 | DSP | c.6556G= (p.Glu2186=) c.7885G= (p.Glu2629=) c.6088G= (p.Glu2030=) | |
| 6 | g.7585147G>T | CA362693988 | DSP | c.6556G>T (p.Glu2186Ter) c.7885G>T (p.Glu2629Ter) c.6088G>T (p.Glu2030Ter) | |
| 6 | g.7585148A>C | CA362693989 | DSP | c.6557A>C (p.Glu2186Ala) c.7886A>C (p.Glu2629Ala) c.6089A>C (p.Glu2030Ala) | |
| 6 | g.7585148A>G | CA362693990 | DSP | c.6557A>G (p.Glu2186Gly) c.7886A>G (p.Glu2629Gly) c.6089A>G (p.Glu2030Gly) | ClinVar |
| 6 | g.7585148A>T | CA362693991 | DSP | c.6557A>T (p.Glu2186Val) c.7886A>T (p.Glu2629Val) c.6089A>T (p.Glu2030Val) | |
| 6 | g.7585149G>A | CA448716870 | DSP | c.6558G>A (p.Glu2186=) c.7887G>A (p.Glu2629=) c.6090G>A (p.Glu2030=) | COSMIC |
| 6 | g.7585149G>C | CA362693992 | DSP | c.6558G>C (p.Glu2186Asp) c.7887G>C (p.Glu2629Asp) c.6090G>C (p.Glu2030Asp) | |
| 6 | g.7585149G>T | CA362693993 | DSP | c.6558G>T (p.Glu2186Asp) c.7887G>T (p.Glu2629Asp) c.6090G>T (p.Glu2030Asp) | |
| 6 | g.7585150A>C | CA362693994 | DSP | c.6559A>C (p.Lys2187Gln) c.7888A>C (p.Lys2630Gln) c.6091A>C (p.Lys2031Gln) | |
| 6 | g.7585150A>G | CA362693996 | DSP | c.6559A>G (p.Lys2187Glu) c.7888A>G (p.Lys2630Glu) c.6091A>G (p.Lys2031Glu) | |
| 6 | g.7585150A>T | CA362693995 | DSP | c.6559A>T (p.Lys2187Ter) c.7888A>T (p.Lys2630Ter) c.6091A>T (p.Lys2031Ter) | |
| 6 | g.7585153dup | CA2677220959 | DSP | c.6562dup (p.Ile2188AsnfsTer13) c.7891dup (p.Ile2631AsnfsTer13) c.6094dup (p.Ile2032AsnfsTer13) | gnomAD v4 |
| 6 | g.7585151A>C | CA362693997 | DSP | c.6560A>C (p.Lys2187Thr) c.7889A>C (p.Lys2630Thr) c.6092A>C (p.Lys2031Thr) | |
| 6 | g.7585151A>G | CA362693998 | DSP | c.6560A>G (p.Lys2187Arg) c.7889A>G (p.Lys2630Arg) c.6092A>G (p.Lys2031Arg) | |
| 6 | g.7585151A>T | CA362693999 | DSP | c.6560A>T (p.Lys2187Ile) c.7889A>T (p.Lys2630Ile) c.6092A>T (p.Lys2031Ile) | |
| 6 | g.7585152A>C | CA362694000 | DSP | c.6561A>C (p.Lys2187Asn) c.7890A>C (p.Lys2630Asn) c.6093A>C (p.Lys2031Asn) | |
| 6 | g.7585152A>G | CA448716874 | DSP | c.6561A>G (p.Lys2187=) c.7890A>G (p.Lys2630=) c.6093A>G (p.Lys2031=) | |
| 6 | g.7585152A>T | CA362694001 | DSP | c.6561A>T (p.Lys2187Asn) c.7890A>T (p.Lys2630Asn) c.6093A>T (p.Lys2031Asn) | |
| 6 | g.7585153A= | CA1608613441 | DSP | c.6562A= (p.Ile2188=) c.7891A= (p.Ile2631=) c.6094A= (p.Ile2032=) | |
| 6 | g.7585153A>C | CA362694002 | DSP | c.6562A>C (p.Ile2188Leu) c.7891A>C (p.Ile2631Leu) c.6094A>C (p.Ile2032Leu) | |
| 6 | g.7585153A>G | CA362694003 | DSP | c.6562A>G (p.Ile2188Val) c.7891A>G (p.Ile2631Val) c.6094A>G (p.Ile2032Val) | ClinVar dbSNP |
| 6 | g.7585153A>T | CA362694004 | DSP | c.6562A>T (p.Ile2188Phe) c.7891A>T (p.Ile2631Phe) c.6094A>T (p.Ile2032Phe) | |
| 6 | g.7585154T>A | CA362694005 | DSP | c.6563T>A (p.Ile2188Asn) c.7892T>A (p.Ile2631Asn) c.6095T>A (p.Ile2032Asn) | |
| 6 | g.7585154T>C | CA362694006 | DSP | c.6563T>C (p.Ile2188Thr) c.7892T>C (p.Ile2631Thr) c.6095T>C (p.Ile2032Thr) | |
| 6 | g.7585154T>G | CA362694007 | DSP | c.6563T>G (p.Ile2188Ser) c.7892T>G (p.Ile2631Ser) c.6095T>G (p.Ile2032Ser) | |
| 6 | g.7585155C>A | CA448716878 | DSP | c.6564C>A (p.Ile2188=) c.7893C>A (p.Ile2631=) c.6096C>A (p.Ile2032=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585155C= | CA1608613450 | DSP | c.6564C= (p.Ile2188=) c.7893C= (p.Ile2631=) c.6096C= (p.Ile2032=) | |
| 6 | g.7585155C>G | CA362694008 | DSP | c.6564C>G (p.Ile2188Met) c.7893C>G (p.Ile2631Met) c.6096C>G (p.Ile2032Met) | |
| 6 | g.7585155C>T | CA051080 | DSP | c.6564C>T (p.Ile2188=) c.7893C>T (p.Ile2631=) c.6096C>T (p.Ile2032=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585156T>A | CA362694009 | DSP | c.6565T>A (p.Ser2189Thr) c.7894T>A (p.Ser2632Thr) c.6097T>A (p.Ser2033Thr) | |
| 6 | g.7585156T>C | CA362694011 | DSP | c.6565T>C (p.Ser2189Pro) c.7894T>C (p.Ser2632Pro) c.6097T>C (p.Ser2033Pro) | ClinVar |
| 6 | g.7585156T>G | CA362694010 | DSP | c.6565T>G (p.Ser2189Ala) c.7894T>G (p.Ser2632Ala) c.6097T>G (p.Ser2033Ala) | |
| 6 | g.7585157C>A | CA362694012 | DSP | c.6566C>A (p.Ser2189Tyr) c.7895C>A (p.Ser2632Tyr) c.6098C>A (p.Ser2033Tyr) | dbSNP |
| 6 | g.7585157C= | CA1608613460 | DSP | c.6566C= (p.Ser2189=) c.7895C= (p.Ser2632=) c.6098C= (p.Ser2033=) | |
| 6 | g.7585157C>G | CA362694013 | DSP | c.6566C>G (p.Ser2189Cys) c.7895C>G (p.Ser2632Cys) c.6098C>G (p.Ser2033Cys) | |
| 6 | g.7585157C>T | CA362694014 | DSP | c.6566C>T (p.Ser2189Phe) c.7895C>T (p.Ser2632Phe) c.6098C>T (p.Ser2033Phe) | |
| 6 | g.7585158C>A | CA448716881 | DSP | c.6567C>A (p.Ser2189=) c.7896C>A (p.Ser2632=) c.6099C>A (p.Ser2033=) | |
| 6 | g.7585158C>G | CA448716882 | DSP | c.6567C>G (p.Ser2189=) c.7896C>G (p.Ser2632=) c.6099C>G (p.Ser2033=) | |
| 6 | g.7585158C>T | CA448716884 | DSP | c.6567C>T (p.Ser2189=) c.7896C>T (p.Ser2632=) c.6099C>T (p.Ser2033=) | COSMIC |
| 6 | g.7585159A= | CA1608613461 | DSP | c.6568A= (p.Ile2190=) c.7897A= (p.Ile2633=) c.6100A= (p.Ile2034=) | |
| 6 | g.7585159A>C | CA362694015 | DSP | c.6568A>C (p.Ile2190Leu) c.7897A>C (p.Ile2633Leu) c.6100A>C (p.Ile2034Leu) | |
| 6 | g.7585159A>G | CA362694016 | DSP | c.6568A>G (p.Ile2190Val) c.7897A>G (p.Ile2633Val) c.6100A>G (p.Ile2034Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585159A>T | CA362694017 | DSP | c.6568A>T (p.Ile2190Phe) c.7897A>T (p.Ile2633Phe) c.6100A>T (p.Ile2034Phe) | |
| 6 | g.7585160T>A | CA362694018 | DSP | c.6569T>A (p.Ile2190Asn) c.7898T>A (p.Ile2633Asn) c.6101T>A (p.Ile2034Asn) | |
| 6 | g.7585160T>C | CA362694019 | DSP | c.6569T>C (p.Ile2190Thr) c.7898T>C (p.Ile2633Thr) c.6101T>C (p.Ile2034Thr) | |
| 6 | g.7585160T>G | CA362694020 | DSP | c.6569T>G (p.Ile2190Ser) c.7898T>G (p.Ile2633Ser) c.6101T>G (p.Ile2034Ser) | |
| 6 | g.7585161dup | CA645369437 | DSP | c.6570dup (p.Thr2191TyrfsTer10) c.7899dup (p.Thr2634TyrfsTer10) c.6102dup (p.Thr2035TyrfsTer10) | ClinVar dbSNP |
| 6 | g.7585161T>A | CA448716890 | DSP | c.6570T>A (p.Ile2190=) c.7899T>A (p.Ile2633=) c.6102T>A (p.Ile2034=) | |
| 6 | g.7585161T>C | CA448716888 | DSP | c.6570T>C (p.Ile2190=) c.7899T>C (p.Ile2633=) c.6102T>C (p.Ile2034=) | |
| 6 | g.7585161T>G | CA362694021 | DSP | c.6570T>G (p.Ile2190Met) c.7899T>G (p.Ile2633Met) c.6102T>G (p.Ile2034Met) | |
| 6 | g.7585162A= | CA1608613473 | DSP | c.6571A= (p.Thr2191=) c.7900A= (p.Thr2634=) c.6103A= (p.Thr2035=) | |
| 6 | g.7585162A>C | CA362694023 | DSP | c.6571A>C (p.Thr2191Pro) c.7900A>C (p.Thr2634Pro) c.6103A>C (p.Thr2035Pro) | |
| 6 | g.7585162A>G | CA133976775 | DSP | c.6571A>G (p.Thr2191Ala) c.7900A>G (p.Thr2634Ala) c.6103A>G (p.Thr2035Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585162A>T | CA362694022 | DSP | c.6571A>T (p.Thr2191Ser) c.7900A>T (p.Thr2634Ser) c.6103A>T (p.Thr2035Ser) | |
| 6 | g.7585163C>A | CA362694024 | DSP | c.6572C>A (p.Thr2191Lys) c.7901C>A (p.Thr2634Lys) c.6104C>A (p.Thr2035Lys) | |
| 6 | g.7585163C>G | CA362694025 | DSP | c.6572C>G (p.Thr2191Arg) c.7901C>G (p.Thr2634Arg) c.6104C>G (p.Thr2035Arg) | |
| 6 | g.7585163C>T | CA362694026 | DSP | c.6572C>T (p.Thr2191Ile) c.7901C>T (p.Thr2634Ile) c.6104C>T (p.Thr2035Ile) | gnomAD v4 |
| 6 | g.7585164A= | CA1608613479 | DSP | c.6573A= (p.Thr2191=) c.7902A= (p.Thr2634=) c.6105A= (p.Thr2035=) | |
| 6 | g.7585164A>C | CA448716896 | DSP | c.6573A>C (p.Thr2191=) c.7902A>C (p.Thr2634=) c.6105A>C (p.Thr2035=) | ClinVar |
| 6 | g.7585164A>G | CA051131 | DSP | c.6573A>G (p.Thr2191=) c.7902A>G (p.Thr2634=) c.6105A>G (p.Thr2035=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585164A>T | CA448716893 | DSP | c.6573A>T (p.Thr2191=) c.7902A>T (p.Thr2634=) c.6105A>T (p.Thr2035=) | ClinVar |
| 6 | g.7585165G>A | CA362694027 | DSP | c.6574G>A (p.Glu2192Lys) c.7903G>A (p.Glu2635Lys) c.6106G>A (p.Glu2036Lys) | |
| 6 | g.7585165G>C | CA362694028 | DSP | c.6574G>C (p.Glu2192Gln) c.7903G>C (p.Glu2635Gln) c.6106G>C (p.Glu2036Gln) | |
| 6 | g.7585165G>T | CA362694029 | DSP | c.6574G>T (p.Glu2192Ter) c.7903G>T (p.Glu2635Ter) c.6106G>T (p.Glu2036Ter) | |
| 6 | g.7585166A>C | CA362694030 | DSP | c.6575A>C (p.Glu2192Ala) c.7904A>C (p.Glu2635Ala) c.6107A>C (p.Glu2036Ala) | |
| 6 | g.7585166A>G | CA362694031 | DSP | c.6575A>G (p.Glu2192Gly) c.7904A>G (p.Glu2635Gly) c.6107A>G (p.Glu2036Gly) | |
| 6 | g.7585166A>T | CA362694032 | DSP | c.6575A>T (p.Glu2192Val) c.7904A>T (p.Glu2635Val) c.6107A>T (p.Glu2036Val) | |
| 6 | g.7585167A>C | CA362694033 | DSP | c.6576A>C (p.Glu2192Asp) c.7905A>C (p.Glu2635Asp) c.6108A>C (p.Glu2036Asp) | |
| 6 | g.7585167A>G | CA448716900 | DSP | c.6576A>G (p.Glu2192=) c.7905A>G (p.Glu2635=) c.6108A>G (p.Glu2036=) | |
| 6 | g.7585167A>T | CA362694034 | DSP | c.6576A>T (p.Glu2192Asp) c.7905A>T (p.Glu2635Asp) c.6108A>T (p.Glu2036Asp) | |
| 6 | g.7585168G>A | CA362694037 | DSP | c.6577G>A (p.Gly2193Ser) c.7906G>A (p.Gly2636Ser) c.6109G>A (p.Gly2037Ser) | gnomAD v4 |
| 6 | g.7585168G>C | CA362694036 | DSP | c.6577G>C (p.Gly2193Arg) c.7906G>C (p.Gly2636Arg) c.6109G>C (p.Gly2037Arg) | COSMIC |
| 6 | g.7585168G= | CA1608613482 | DSP | c.6577G= (p.Gly2193=) c.7906G= (p.Gly2636=) c.6109G= (p.Gly2037=) | |
| 6 | g.7585168G>T | CA362694035 | DSP | c.6577G>T (p.Gly2193Cys) c.7906G>T (p.Gly2636Cys) c.6109G>T (p.Gly2037Cys) | ClinVar dbSNP gnomAD v2 |
| 6 | g.7585169G>A | CA362694038 | DSP | c.6578G>A (p.Gly2193Asp) c.7907G>A (p.Gly2636Asp) c.6110G>A (p.Gly2037Asp) | ClinVar dbSNP |
| 6 | g.7585169G>C | CA362694039 | DSP | c.6578G>C (p.Gly2193Ala) c.7907G>C (p.Gly2636Ala) c.6110G>C (p.Gly2037Ala) | |
| 6 | g.7585169G= | CA1608613487 | DSP | c.6578G= (p.Gly2193=) c.7907G= (p.Gly2636=) c.6110G= (p.Gly2037=) | |
| 6 | g.7585169G>T | CA362694040 | DSP | c.6578G>T (p.Gly2193Val) c.7907G>T (p.Gly2636Val) c.6110G>T (p.Gly2037Val) | |
| 6 | g.7585170T>A | CA448716901 | DSP | c.6579T>A (p.Gly2193=) c.7908T>A (p.Gly2636=) c.6111T>A (p.Gly2037=) | |
| 6 | g.7585170T>C | CA448716904 | DSP | c.6579T>C (p.Gly2193=) c.7908T>C (p.Gly2636=) c.6111T>C (p.Gly2037=) | gnomAD v4 |
| 6 | g.7585170T>G | CA448716905 | DSP | c.6579T>G (p.Gly2193=) c.7908T>G (p.Gly2636=) c.6111T>G (p.Gly2037=) | |
| 6 | g.7585171A= | CA1608613494 | DSP | c.6580A= (p.Ile2194=) c.7909A= (p.Ile2637=) c.6112A= (p.Ile2038=) | |
| 6 | g.7585171A>C | CA362694041 | DSP | c.6580A>C (p.Ile2194Leu) c.7909A>C (p.Ile2637Leu) c.6112A>C (p.Ile2038Leu) | |
| 6 | g.7585171A>G | CA362694042 | DSP | c.6580A>G (p.Ile2194Val) c.7909A>G (p.Ile2637Val) c.6112A>G (p.Ile2038Val) | ClinVar dbSNP |
| 6 | g.7585171A>T | CA362694043 | DSP | c.6580A>T (p.Ile2194Leu) c.7909A>T (p.Ile2637Leu) c.6112A>T (p.Ile2038Leu) | |
| 6 | g.7585172T>A | CA362694044 | DSP | c.6581T>A (p.Ile2194Lys) c.7910T>A (p.Ile2637Lys) c.6113T>A (p.Ile2038Lys) | |
| 6 | g.7585172T>C | CA362694045 | DSP | c.6581T>C (p.Ile2194Thr) c.7910T>C (p.Ile2637Thr) c.6113T>C (p.Ile2038Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585172T>G | CA362694046 | DSP | c.6581T>G (p.Ile2194Arg) c.7910T>G (p.Ile2637Arg) c.6113T>G (p.Ile2038Arg) | |
| 6 | g.7585172T= | CA1608613497 | DSP | c.6581T= (p.Ile2194=) c.7910T= (p.Ile2637=) c.6113T= (p.Ile2038=) | |
| 6 | g.7585172dup | CA1608613496 | DSP | c.6581dup (p.Glu2195ArgfsTer6) c.7910dup (p.Glu2638ArgfsTer6) c.6113dup (p.Glu2039ArgfsTer6) | dbSNP gnomAD v4 |
| 6 | g.7585173A>C | CA448716910 | DSP | c.6582A>C (p.Ile2194=) c.7911A>C (p.Ile2637=) c.6114A>C (p.Ile2038=) | |
| 6 | g.7585173A>G | CA362694047 | DSP | c.6582A>G (p.Ile2194Met) c.7911A>G (p.Ile2637Met) c.6114A>G (p.Ile2038Met) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585173A>T | CA448716911 | DSP | c.6582A>T (p.Ile2194=) c.7911A>T (p.Ile2637=) c.6114A>T (p.Ile2038=) | |
| 6 | g.7585174G>A | CA362694048 | DSP | c.6583G>A (p.Glu2195Lys) c.7912G>A (p.Glu2638Lys) c.6115G>A (p.Glu2039Lys) | gnomAD v4 |
| 6 | g.7585174G>C | CA362694049 | DSP | c.6583G>C (p.Glu2195Gln) c.7912G>C (p.Glu2638Gln) c.6115G>C (p.Glu2039Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585174G= | CA1608613524 | DSP | c.6583G= (p.Glu2195=) c.7912G= (p.Glu2638=) c.6115G= (p.Glu2039=) | |
| 6 | g.7585174G>T | CA362694050 | DSP | c.6583G>T (p.Glu2195Ter) c.7912G>T (p.Glu2638Ter) c.6115G>T (p.Glu2039Ter) | |
| 6 | g.7585175A>C | CA362694052 | DSP | c.6584A>C (p.Glu2195Ala) c.7913A>C (p.Glu2638Ala) c.6116A>C (p.Glu2039Ala) | |
| 6 | g.7585175A>G | CA362694053 | DSP | c.6584A>G (p.Glu2195Gly) c.7913A>G (p.Glu2638Gly) c.6116A>G (p.Glu2039Gly) | |
| 6 | g.7585175A>T | CA362694051 | DSP | c.6584A>T (p.Glu2195Val) c.7913A>T (p.Glu2638Val) c.6116A>T (p.Glu2039Val) | |
| 6 | g.7585176G>A | CA448716923 | DSP | c.6585G>A (p.Glu2195=) c.7914G>A (p.Glu2638=) c.6117G>A (p.Glu2039=) | |
| 6 | g.7585176G>C | CA362694054 | DSP | c.6585G>C (p.Glu2195Asp) c.7914G>C (p.Glu2638Asp) c.6117G>C (p.Glu2039Asp) | |
| 6 | g.7585176G>T | CA362694055 | DSP | c.6585G>T (p.Glu2195Asp) c.7914G>T (p.Glu2638Asp) c.6117G>T (p.Glu2039Asp) | gnomAD v4 |
| 6 | g.7585177C>A | CA448716924 | DSP | c.6586C>A (p.Arg2196=) c.7915C>A (p.Arg2639=) c.6118C>A (p.Arg2040=) | ClinVar dbSNP |
| 6 | g.7585177C= | CA1608613536 | DSP | c.6586C= (p.Arg2196=) c.7915C= (p.Arg2639=) c.6118C= (p.Arg2040=) | |
| 6 | g.7585177C>G | CA362694056 | DSP | c.6586C>G (p.Arg2196Gly) c.7915C>G (p.Arg2639Gly) c.6118C>G (p.Arg2040Gly) | ClinVar |
| 6 | g.7585177C>T | CA051144 | DSP | c.6586C>T (p.Arg2196Trp) c.7915C>T (p.Arg2639Trp) c.6118C>T (p.Arg2040Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585178G>A | CA007320 | DSP | c.6587G>A (p.Arg2196Gln) c.7916G>A (p.Arg2639Gln) c.6119G>A (p.Arg2040Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585178G>C | CA362694057 | DSP | c.6587G>C (p.Arg2196Pro) c.7916G>C (p.Arg2639Pro) c.6119G>C (p.Arg2040Pro) | dbSNP |
| 6 | g.7585178G= | CA1608613544 | DSP | c.6587G= (p.Arg2196=) c.7916G= (p.Arg2639=) c.6119G= (p.Arg2040=) | |
| 6 | g.7585178G>T | CA362694058 | DSP | c.6587G>T (p.Arg2196Leu) c.7916G>T (p.Arg2639Leu) c.6119G>T (p.Arg2040Leu) | gnomAD v4 |
| 6 | g.7585180_7585181dup | CA1139659425 | DSP | c.6589_6590dup (p.Ile2198AlafsTer?) c.7918_7919dup (p.Ile2641AlafsTer?) c.6121_6122dup (p.Ile2042AlafsTer?) | ClinVar dbSNP |
| 6 | g.7585179G>A | CA448716927 | DSP | c.6588G>A (p.Arg2196=) c.7917G>A (p.Arg2639=) c.6120G>A (p.Arg2040=) | dbSNP |
| 6 | g.7585179G>C | CA448716929 | DSP | c.6588G>C (p.Arg2196=) c.7917G>C (p.Arg2639=) c.6120G>C (p.Arg2040=) | gnomAD v4 |
| 6 | g.7585179G>T | CA448716930 | DSP | c.6588G>T (p.Arg2196=) c.7917G>T (p.Arg2639=) c.6120G>T (p.Arg2040=) | |
| 6 | g.7585180G>A | CA362694059 | DSP | c.6589G>A (p.Gly2197Ser) c.7918G>A (p.Gly2640Ser) c.6121G>A (p.Gly2041Ser) | |
| 6 | g.7585180G>C | CA133976797 | DSP | c.6589G>C (p.Gly2197Arg) c.7918G>C (p.Gly2640Arg) c.6121G>C (p.Gly2041Arg) | dbSNP |
| 6 | g.7585180G= | CA1608613553 | DSP | c.6589G= (p.Gly2197=) c.7918G= (p.Gly2640=) c.6121G= (p.Gly2041=) | |
| 6 | g.7585180G>T | CA051161 | DSP | c.6589G>T (p.Gly2197Cys) c.7918G>T (p.Gly2640Cys) c.6121G>T (p.Gly2041Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585181G>A | CA362694060 | DSP | c.6590G>A (p.Gly2197Asp) c.7919G>A (p.Gly2640Asp) c.6122G>A (p.Gly2041Asp) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585181G>C | CA362694061 | DSP | c.6590G>C (p.Gly2197Ala) c.7919G>C (p.Gly2640Ala) c.6122G>C (p.Gly2041Ala) | |
| 6 | g.7585181G= | CA1608613559 | DSP | c.6590G= (p.Gly2197=) c.7919G= (p.Gly2640=) c.6122G= (p.Gly2041=) | |
| 6 | g.7585181G>T | CA362694062 | DSP | c.6590G>T (p.Gly2197Val) c.7919G>T (p.Gly2640Val) c.6122G>T (p.Gly2041Val) | |
| 6 | g.7585182C>A | CA448716935 | DSP | c.6591C>A (p.Gly2197=) c.7920C>A (p.Gly2640=) c.6123C>A (p.Gly2041=) | |
| 6 | g.7585182C= | CA1608613562 | DSP | c.6591C= (p.Gly2197=) c.7920C= (p.Gly2640=) c.6123C= (p.Gly2041=) | |
| 6 | g.7585182C>G | CA448716936 | DSP | c.6591C>G (p.Gly2197=) c.7920C>G (p.Gly2640=) c.6123C>G (p.Gly2041=) | |
| 6 | g.7585182C>T | CA051169 | DSP | c.6591C>T (p.Gly2197=) c.7920C>T (p.Gly2640=) c.6123C>T (p.Gly2041=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585183A>C | CA362694063 | DSP | c.6592A>C (p.Ile2198Leu) c.7921A>C (p.Ile2641Leu) c.6124A>C (p.Ile2042Leu) | |
| 6 | g.7585183A>G | CA362694064 | DSP | c.6592A>G (p.Ile2198Val) c.7921A>G (p.Ile2641Val) c.6124A>G (p.Ile2042Val) | |
| 6 | g.7585183A>T | CA362694065 | DSP | c.6592A>T (p.Ile2198Phe) c.7921A>T (p.Ile2641Phe) c.6124A>T (p.Ile2042Phe) | |
| 6 | g.7585184T>A | CA362694066 | DSP | c.6593T>A (p.Ile2198Asn) c.7922T>A (p.Ile2641Asn) c.6125T>A (p.Ile2042Asn) | |
| 6 | g.7585184T>C | CA362694068 | DSP | c.6593T>C (p.Ile2198Thr) c.7922T>C (p.Ile2641Thr) c.6125T>C (p.Ile2042Thr) | |
| 6 | g.7585184T>G | CA362694067 | DSP | c.6593T>G (p.Ile2198Ser) c.7922T>G (p.Ile2641Ser) c.6125T>G (p.Ile2042Ser) |