| 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.7583279C>A | CA362689913 | DSP | c.4688C>A (p.Ser1563Tyr) c.6017C>A (p.Ser2006Tyr) c.4220C>A (p.Ser1407Tyr) | ClinVar dbSNP |
| 6 | g.7583279C= | CA1608607693 | DSP | c.4688C= (p.Ser1563=) c.6017C= (p.Ser2006=) c.4220C= (p.Ser1407=) | |
| 6 | g.7583279C>G | CA362689914 | DSP | c.4688C>G (p.Ser1563Cys) c.6017C>G (p.Ser2006Cys) c.4220C>G (p.Ser1407Cys) | COSMIC |
| 6 | g.7583279C>T | CA362689915 | DSP | c.4688C>T (p.Ser1563Phe) c.6017C>T (p.Ser2006Phe) c.4220C>T (p.Ser1407Phe) | |
| 6 | g.7583280T>A | CA448715617 | DSP | c.4689T>A (p.Ser1563=) c.6018T>A (p.Ser2006=) c.4221T>A (p.Ser1407=) | |
| 6 | g.7583280T>C | CA448715616 | DSP | c.4689T>C (p.Ser1563=) c.6018T>C (p.Ser2006=) c.4221T>C (p.Ser1407=) | |
| 6 | g.7583280T>G | CA448715614 | DSP | c.4689T>G (p.Ser1563=) c.6018T>G (p.Ser2006=) c.4221T>G (p.Ser1407=) | |
| 6 | g.7583281G>A | CA362689916 | DSP | c.4690G>A (p.Glu1564Lys) c.6019G>A (p.Glu2007Lys) c.4222G>A (p.Glu1408Lys) | |
| 6 | g.7583281G>C | CA362689917 | DSP | c.4690G>C (p.Glu1564Gln) c.6019G>C (p.Glu2007Gln) c.4222G>C (p.Glu1408Gln) | |
| 6 | g.7583281G>T | CA362689918 | DSP | c.4690G>T (p.Glu1564Ter) c.6019G>T (p.Glu2007Ter) c.4222G>T (p.Glu1408Ter) | |
| 6 | g.7583282A>C | CA362689919 | DSP | c.4691A>C (p.Glu1564Ala) c.6020A>C (p.Glu2007Ala) c.4223A>C (p.Glu1408Ala) | |
| 6 | g.7583282A>G | CA362689920 | DSP | c.4691A>G (p.Glu1564Gly) c.6020A>G (p.Glu2007Gly) c.4223A>G (p.Glu1408Gly) | |
| 6 | g.7583282A>T | CA362689921 | DSP | c.4691A>T (p.Glu1564Val) c.6020A>T (p.Glu2007Val) c.4223A>T (p.Glu1408Val) | |
| 6 | g.7583283A= | CA1608607699 | DSP | c.4692A= (p.Glu1564=) c.6021A= (p.Glu2007=) c.4224A= (p.Glu1408=) | |
| 6 | g.7583283A>C | CA362689923 | DSP | c.4692A>C (p.Glu1564Asp) c.6021A>C (p.Glu2007Asp) c.4224A>C (p.Glu1408Asp) | |
| 6 | g.7583283A>G | CA448715618 | DSP | c.4692A>G (p.Glu1564=) c.6021A>G (p.Glu2007=) c.4224A>G (p.Glu1408=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583283A>T | CA362689922 | DSP | c.4692A>T (p.Glu1564Asp) c.6021A>T (p.Glu2007Asp) c.4224A>T (p.Glu1408Asp) | |
| 6 | g.7583284A>C | CA362689924 | DSP | c.4693A>C (p.Ile1565Leu) c.6022A>C (p.Ile2008Leu) c.4225A>C (p.Ile1409Leu) | |
| 6 | g.7583284A>G | CA362689925 | DSP | c.4693A>G (p.Ile1565Val) c.6022A>G (p.Ile2008Val) c.4225A>G (p.Ile1409Val) | |
| 6 | g.7583284A>T | CA362689926 | DSP | c.4693A>T (p.Ile1565Phe) c.6022A>T (p.Ile2008Phe) c.4225A>T (p.Ile1409Phe) | |
| 6 | g.7583285T>A | CA362689927 | DSP | c.4694T>A (p.Ile1565Asn) c.6023T>A (p.Ile2008Asn) c.4226T>A (p.Ile1409Asn) | |
| 6 | g.7583285T>C | CA046607 | DSP | c.4694T>C (p.Ile1565Thr) c.6023T>C (p.Ile2008Thr) c.4226T>C (p.Ile1409Thr) | dbSNP ExAC gnomAD v2 |
| 6 | g.7583285T>G | CA362689928 | DSP | c.4694T>G (p.Ile1565Ser) c.6023T>G (p.Ile2008Ser) c.4226T>G (p.Ile1409Ser) | |
| 6 | g.7583285T= | CA1608607710 | DSP | c.4694T= (p.Ile1565=) c.6023T= (p.Ile2008=) c.4226T= (p.Ile1409=) | |
| 6 | g.7583286C>A | CA448715619 | DSP | c.4695C>A (p.Ile1565=) c.6024C>A (p.Ile2008=) c.4227C>A (p.Ile1409=) | |
| 6 | g.7583286C= | CA1608607713 | DSP | c.4695C= (p.Ile1565=) c.6024C= (p.Ile2008=) c.4227C= (p.Ile1409=) | |
| 6 | g.7583286C>G | CA362689929 | DSP | c.4695C>G (p.Ile1565Met) c.6024C>G (p.Ile2008Met) c.4227C>G (p.Ile1409Met) | gnomAD v4 |
| 6 | g.7583286C>T | CA448715620 | DSP | c.4695C>T (p.Ile1565=) c.6024C>T (p.Ile2008=) c.4227C>T (p.Ile1409=) | dbSNP gnomAD v4 |
| 6 | g.7583287C>A | CA362689932 | DSP | c.4696C>A (p.Gln1566Lys) c.6025C>A (p.Gln2009Lys) c.4228C>A (p.Gln1410Lys) | |
| 6 | g.7583287C>G | CA362689930 | DSP | c.4696C>G (p.Gln1566Glu) c.6025C>G (p.Gln2009Glu) c.4228C>G (p.Gln1410Glu) | |
| 6 | g.7583287C>T | CA362689931 | DSP | c.4696C>T (p.Gln1566Ter) c.6025C>T (p.Gln2009Ter) c.4228C>T (p.Gln1410Ter) | gnomAD v4 |
| 6 | g.7583288A= | CA1608607716 | DSP | c.4697A= (p.Gln1566=) c.6026A= (p.Gln2009=) c.4229A= (p.Gln1410=) | |
| 6 | g.7583288A>C | CA362689933 | DSP | c.4697A>C (p.Gln1566Pro) c.6026A>C (p.Gln2009Pro) c.4229A>C (p.Gln1410Pro) | |
| 6 | g.7583288A>G | CA362689934 | DSP | c.4697A>G (p.Gln1566Arg) c.6026A>G (p.Gln2009Arg) c.4229A>G (p.Gln1410Arg) | |
| 6 | g.7583288A>T | CA362689935 | DSP | c.4697A>T (p.Gln1566Leu) c.6026A>T (p.Gln2009Leu) c.4229A>T (p.Gln1410Leu) | dbSNP COSMIC |
| 6 | g.7583289G>A | CA448715621 | DSP | c.4698G>A (p.Gln1566=) c.6027G>A (p.Gln2009=) c.4230G>A (p.Gln1410=) | |
| 6 | g.7583289G>C | CA362689936 | DSP | c.4698G>C (p.Gln1566His) c.6027G>C (p.Gln2009His) c.4230G>C (p.Gln1410His) | |
| 6 | g.7583289G= | CA1608607718 | DSP | c.4698G= (p.Gln1566=) c.6027G= (p.Gln2009=) c.4230G= (p.Gln1410=) | |
| 6 | g.7583289G>T | CA362689937 | DSP | c.4698G>T (p.Gln1566His) c.6027G>T (p.Gln2009His) c.4230G>T (p.Gln1410His) | dbSNP |
| 6 | g.7583290C>A | CA362689938 | DSP | c.4699C>A (p.Pro1567Thr) c.6028C>A (p.Pro2010Thr) c.4231C>A (p.Pro1411Thr) | |
| 6 | g.7583290C= | CA1608607726 | DSP | c.4699C= (p.Pro1567=) c.6028C= (p.Pro2010=) c.4231C= (p.Pro1411=) | |
| 6 | g.7583290C>G | CA362689939 | DSP | c.4699C>G (p.Pro1567Ala) c.6028C>G (p.Pro2010Ala) c.4231C>G (p.Pro1411Ala) | |
| 6 | g.7583290C>T | CA046623 | DSP | c.4699C>T (p.Pro1567Ser) c.6028C>T (p.Pro2010Ser) c.4231C>T (p.Pro1411Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583291C>A | CA362689940 | DSP | c.4700C>A (p.Pro1567Gln) c.6029C>A (p.Pro2010Gln) c.4232C>A (p.Pro1411Gln) | |
| 6 | g.7583291C>G | CA362689941 | DSP | c.4700C>G (p.Pro1567Arg) c.6029C>G (p.Pro2010Arg) c.4232C>G (p.Pro1411Arg) | |
| 6 | g.7583291C>T | CA362689942 | DSP | c.4700C>T (p.Pro1567Leu) c.6029C>T (p.Pro2010Leu) c.4232C>T (p.Pro1411Leu) | ClinVar dbSNP |
| 6 | g.7583292A>C | CA448715626 | DSP | c.4701A>C (p.Pro1567=) c.6030A>C (p.Pro2010=) c.4233A>C (p.Pro1411=) | |
| 6 | g.7583292A>G | CA448715627 | DSP | c.4701A>G (p.Pro1567=) c.6030A>G (p.Pro2010=) c.4233A>G (p.Pro1411=) | |
| 6 | g.7583292A>T | CA448715628 | DSP | c.4701A>T (p.Pro1567=) c.6030A>T (p.Pro2010=) c.4233A>T (p.Pro1411=) | |
| 6 | g.7583293T>A | CA362689943 | DSP | c.4702T>A (p.Phe1568Ile) c.6031T>A (p.Phe2011Ile) c.4234T>A (p.Phe1412Ile) | |
| 6 | g.7583293T>C | CA362689944 | DSP | c.4702T>C (p.Phe1568Leu) c.6031T>C (p.Phe2011Leu) c.4234T>C (p.Phe1412Leu) | |
| 6 | g.7583293T>G | CA362689945 | DSP | c.4702T>G (p.Phe1568Val) c.6031T>G (p.Phe2011Val) c.4234T>G (p.Phe1412Val) | |
| 6 | g.7583294T>A | CA362689946 | DSP | c.4703T>A (p.Phe1568Tyr) c.6032T>A (p.Phe2011Tyr) c.4235T>A (p.Phe1412Tyr) | |
| 6 | g.7583294T>C | CA362689947 | DSP | c.4703T>C (p.Phe1568Ser) c.6032T>C (p.Phe2011Ser) c.4235T>C (p.Phe1412Ser) | |
| 6 | g.7583294T>G | CA362689948 | DSP | c.4703T>G (p.Phe1568Cys) c.6032T>G (p.Phe2011Cys) c.4235T>G (p.Phe1412Cys) | |
| 6 | g.7583295C>A | CA362689949 | DSP | c.4704C>A (p.Phe1568Leu) c.6033C>A (p.Phe2011Leu) c.4236C>A (p.Phe1412Leu) | |
| 6 | g.7583295C>G | CA362689950 | DSP | c.4704C>G (p.Phe1568Leu) c.6033C>G (p.Phe2011Leu) c.4236C>G (p.Phe1412Leu) | |
| 6 | g.7583295C>T | CA448715630 | DSP | c.4704C>T (p.Phe1568=) c.6033C>T (p.Phe2011=) c.4236C>T (p.Phe1412=) | COSMIC |
| 6 | g.7583296C>A | CA362689951 | DSP | c.4705C>A (p.Leu1569Ile) c.6034C>A (p.Leu2012Ile) c.4237C>A (p.Leu1413Ile) | |
| 6 | g.7583296C= | CA1608607729 | DSP | c.4705C= (p.Leu1569=) c.6034C= (p.Leu2012=) c.4237C= (p.Leu1413=) | |
| 6 | g.7583296C>G | CA362689952 | DSP | c.4705C>G (p.Leu1569Val) c.6034C>G (p.Leu2012Val) c.4237C>G (p.Leu1413Val) | |
| 6 | g.7583296C>T | CA046641 | DSP | c.4705C>T (p.Leu1569Phe) c.6034C>T (p.Leu2012Phe) c.4237C>T (p.Leu1413Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583297T>A | CA362689953 | DSP | c.4706T>A (p.Leu1569His) c.6035T>A (p.Leu2012His) c.4238T>A (p.Leu1413His) | |
| 6 | g.7583297T>C | CA362689955 | DSP | c.4706T>C (p.Leu1569Pro) c.6035T>C (p.Leu2012Pro) c.4238T>C (p.Leu1413Pro) | gnomAD v4 |
| 6 | g.7583297T>G | CA362689954 | DSP | c.4706T>G (p.Leu1569Arg) c.6035T>G (p.Leu2012Arg) c.4238T>G (p.Leu1413Arg) | |
| 6 | g.7583298T>A | CA448715632 | DSP | c.4707T>A (p.Leu1569=) c.6036T>A (p.Leu2012=) c.4239T>A (p.Leu1413=) | |
| 6 | g.7583298T>C | CA448715633 | DSP | c.4707T>C (p.Leu1569=) c.6036T>C (p.Leu2012=) c.4239T>C (p.Leu1413=) | |
| 6 | g.7583298T>G | CA448715634 | DSP | c.4707T>G (p.Leu1569=) c.6036T>G (p.Leu2012=) c.4239T>G (p.Leu1413=) | |
| 6 | g.7583299C>A | CA448715635 | DSP | c.4708C>A (p.Arg1570=) c.6037C>A (p.Arg2013=) c.4240C>A (p.Arg1414=) | |
| 6 | g.7583299C= | CA1608607731 | DSP | c.4708C= (p.Arg1570=) c.6037C= (p.Arg2013=) c.4240C= (p.Arg1414=) | |
| 6 | g.7583299C>G | CA362689956 | DSP | c.4708C>G (p.Arg1570Gly) c.6037C>G (p.Arg2013Gly) c.4240C>G (p.Arg1414Gly) | |
| 6 | g.7583299C>T | CA046650 | DSP | c.4708C>T (p.Arg1570Trp) c.6037C>T (p.Arg2013Trp) c.4240C>T (p.Arg1414Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583300G>A | CA046661 | DSP | c.4709G>A (p.Arg1570Gln) c.6038G>A (p.Arg2013Gln) c.4241G>A (p.Arg1414Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583300G>C | CA362689957 | DSP | c.4709G>C (p.Arg1570Pro) c.6038G>C (p.Arg2013Pro) c.4241G>C (p.Arg1414Pro) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583300G= | CA1608607741 | DSP | c.4709G= (p.Arg1570=) c.6038G= (p.Arg2013=) c.4241G= (p.Arg1414=) | |
| 6 | g.7583300G>T | CA362689958 | DSP | c.4709G>T (p.Arg1570Leu) c.6038G>T (p.Arg2013Leu) c.4241G>T (p.Arg1414Leu) | |
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7583301G>A | CA448715642 | DSP | c.4710G>A (p.Arg1570=) c.6039G>A (p.Arg2013=) c.4242G>A (p.Arg1414=) | COSMIC |
| 6 | g.7583301G>C | CA448715640 | DSP | c.4710G>C (p.Arg1570=) c.6039G>C (p.Arg2013=) c.4242G>C (p.Arg1414=) | |
| 6 | g.7583301G>T | CA448715643 | DSP | c.4710G>T (p.Arg1570=) c.6039G>T (p.Arg2013=) c.4242G>T (p.Arg1414=) | COSMIC |
| 6 | g.7583302G>A | CA362689961 | DSP | c.4711G>A (p.Gly1571Ser) c.6040G>A (p.Gly2014Ser) c.4243G>A (p.Gly1415Ser) | |
| 6 | g.7583302G>C | CA362689960 | DSP | c.4711G>C (p.Gly1571Arg) c.6040G>C (p.Gly2014Arg) c.4243G>C (p.Gly1415Arg) | |
| 6 | g.7583302G>T | CA362689959 | DSP | c.4711G>T (p.Gly1571Cys) c.6040G>T (p.Gly2014Cys) c.4243G>T (p.Gly1415Cys) | |
| 6 | g.7583303G>A | CA362689962 | DSP | c.4712G>A (p.Gly1571Asp) c.6041G>A (p.Gly2014Asp) c.4244G>A (p.Gly1415Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583303G>C | CA362689963 | DSP | c.4712G>C (p.Gly1571Ala) c.6041G>C (p.Gly2014Ala) c.4244G>C (p.Gly1415Ala) | ClinVar dbSNP |
| 6 | g.7583303G= | CA1608607747 | DSP | c.4712G= (p.Gly1571=) c.6041G= (p.Gly2014=) c.4244G= (p.Gly1415=) | |
| 6 | g.7583303G>T | CA362689964 | DSP | c.4712G>T (p.Gly1571Val) c.6041G>T (p.Gly2014Val) c.4244G>T (p.Gly1415Val) | |
| 6 | g.7583304T>A | CA448715645 | DSP | c.4713T>A (p.Gly1571=) c.6042T>A (p.Gly2014=) c.4245T>A (p.Gly1415=) | |
| 6 | g.7583304T>C | CA448715646 | DSP | c.4713T>C (p.Gly1571=) c.6042T>C (p.Gly2014=) c.4245T>C (p.Gly1415=) | |
| 6 | g.7583304T>G | CA448715647 | DSP | c.4713T>G (p.Gly1571=) c.6042T>G (p.Gly2014=) c.4245T>G (p.Gly1415=) | |
| 6 | g.7583305del | CA2710966512 | DSP | c.4714del (p.Ala1572GlnfsTer18) c.6043del (p.Ala2015GlnfsTer18) c.4246del (p.Ala1416GlnfsTer18) | dbSNP |
| 6 | g.7583305G>A | CA362689965 | DSP | c.4714G>A (p.Ala1572Thr) c.6043G>A (p.Ala2015Thr) c.4246G>A (p.Ala1416Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583305G>C | CA362689966 | DSP | c.4714G>C (p.Ala1572Pro) c.6043G>C (p.Ala2015Pro) c.4246G>C (p.Ala1416Pro) | |
| 6 | g.7583305G= | CA1608607761 | DSP | c.4714G= (p.Ala1572=) c.6043G= (p.Ala2015=) c.4246G= (p.Ala1416=) | |
| 6 | g.7583305G>T | CA362689967 | DSP | c.4714G>T (p.Ala1572Ser) c.6043G>T (p.Ala2015Ser) c.4246G>T (p.Ala1416Ser) | |
| 6 | g.7583306C>A | CA362689968 | DSP | c.4715C>A (p.Ala1572Glu) c.6044C>A (p.Ala2015Glu) c.4247C>A (p.Ala1416Glu) | |
| 6 | g.7583306C>G | CA362689970 | DSP | c.4715C>G (p.Ala1572Gly) c.6044C>G (p.Ala2015Gly) c.4247C>G (p.Ala1416Gly) | |
| 6 | g.7583306C>T | CA362689969 | DSP | c.4715C>T (p.Ala1572Val) c.6044C>T (p.Ala2015Val) c.4247C>T (p.Ala1416Val) | |
| 6 | g.7583307A= | CA1608607766 | DSP | c.4716A= (p.Ala1572=) c.6045A= (p.Ala2015=) c.4248A= (p.Ala1416=) | |
| 6 | g.7583307A>C | CA448715652 | DSP | c.4716A>C (p.Ala1572=) c.6045A>C (p.Ala2015=) c.4248A>C (p.Ala1416=) | |
| 6 | g.7583307A>G | CA046685 | DSP | c.4716A>G (p.Ala1572=) c.6045A>G (p.Ala2015=) c.4248A>G (p.Ala1416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583307A>T | CA448715654 | DSP | c.4716A>T (p.Ala1572=) c.6045A>T (p.Ala2015=) c.4248A>T (p.Ala1416=) | |
| 6 | g.7583308G>A | CA362689971 | DSP | c.4717G>A (p.Gly1573Arg) c.6046G>A (p.Gly2016Arg) c.4249G>A (p.Gly1417Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583308G>C | CA362689972 | DSP | c.4717G>C (p.Gly1573Arg) c.6046G>C (p.Gly2016Arg) c.4249G>C (p.Gly1417Arg) | |
| 6 | g.7583308G= | CA1608607779 | DSP | c.4717G= (p.Gly1573=) c.6046G= (p.Gly2016=) c.4249G= (p.Gly1417=) | |
| 6 | g.7583308G>T | CA362689973 | DSP | c.4717G>T (p.Gly1573Ter) c.6046G>T (p.Gly2016Ter) c.4249G>T (p.Gly1417Ter) | |
| 6 | g.7583309G>A | CA046697 | DSP | c.4718G>A (p.Gly1573Glu) c.6047G>A (p.Gly2016Glu) c.4250G>A (p.Gly1417Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583309G>C | CA362689974 | DSP | c.4718G>C (p.Gly1573Ala) c.6047G>C (p.Gly2016Ala) c.4250G>C (p.Gly1417Ala) | |
| 6 | g.7583309G= | CA1608607785 | DSP | c.4718G= (p.Gly1573=) c.6047G= (p.Gly2016=) c.4250G= (p.Gly1417=) | |
| 6 | g.7583309G>T | CA16605594 | DSP | c.4718G>T (p.Gly1573Val) c.6047G>T (p.Gly2016Val) c.4250G>T (p.Gly1417Val) | ClinVar dbSNP |
| 6 | g.7583310A= | CA1608607792 | DSP | c.4719A= (p.Gly1573=) c.6048A= (p.Gly2016=) c.4251A= (p.Gly1417=) | |
| 6 | g.7583310A>C | CA448715657 | DSP | c.4719A>C (p.Gly1573=) c.6048A>C (p.Gly2016=) c.4251A>C (p.Gly1417=) | |
| 6 | g.7583310A>G | CA448715659 | DSP | c.4719A>G (p.Gly1573=) c.6048A>G (p.Gly2016=) c.4251A>G (p.Gly1417=) | |
| 6 | g.7583310A>T | CA046707 | DSP | c.4719A>T (p.Gly1573=) c.6048A>T (p.Gly2016=) c.4251A>T (p.Gly1417=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583311T>A | CA362689975 | DSP | c.4720T>A (p.Ser1574Thr) c.6049T>A (p.Ser2017Thr) c.4252T>A (p.Ser1418Thr) | |
| 6 | g.7583311T>C | CA362689976 | DSP | c.4720T>C (p.Ser1574Pro) c.6049T>C (p.Ser2017Pro) c.4252T>C (p.Ser1418Pro) | |
| 6 | g.7583311T>G | CA362689977 | DSP | c.4720T>G (p.Ser1574Ala) c.6049T>G (p.Ser2017Ala) c.4252T>G (p.Ser1418Ala) | |
| 6 | g.7583312C>A | CA362689978 | DSP | c.4721C>A (p.Ser1574Tyr) c.6050C>A (p.Ser2017Tyr) c.4253C>A (p.Ser1418Tyr) | |
| 6 | g.7583312C>G | CA362689980 | DSP | c.4721C>G (p.Ser1574Cys) c.6050C>G (p.Ser2017Cys) c.4253C>G (p.Ser1418Cys) | |
| 6 | g.7583312C>T | CA362689979 | DSP | c.4721C>T (p.Ser1574Phe) c.6050C>T (p.Ser2017Phe) c.4253C>T (p.Ser1418Phe) | |
| 6 | g.7583313T>A | CA448715663 | DSP | c.4722T>A (p.Ser1574=) c.6051T>A (p.Ser2017=) c.4254T>A (p.Ser1418=) | |
| 6 | g.7583313T>C | CA448715664 | DSP | c.4722T>C (p.Ser1574=) c.6051T>C (p.Ser2017=) c.4254T>C (p.Ser1418=) | |
| 6 | g.7583313T>G | CA448715665 | DSP | c.4722T>G (p.Ser1574=) c.6051T>G (p.Ser2017=) c.4254T>G (p.Ser1418=) | |
| 6 | g.7583314A>C | CA362689981 | DSP | c.4723A>C (p.Ile1575Leu) c.6052A>C (p.Ile2018Leu) c.4255A>C (p.Ile1419Leu) | |
| 6 | g.7583314A>G | CA362689982 | DSP | c.4723A>G (p.Ile1575Val) c.6052A>G (p.Ile2018Val) c.4255A>G (p.Ile1419Val) | ClinVar dbSNP COSMIC |
| 6 | g.7583314A>T | CA362689983 | DSP | c.4723A>T (p.Ile1575Phe) c.6052A>T (p.Ile2018Phe) c.4255A>T (p.Ile1419Phe) | |
| 6 | g.7583315T>A | CA362689984 | DSP | c.4724T>A (p.Ile1575Asn) c.6053T>A (p.Ile2018Asn) c.4256T>A (p.Ile1419Asn) | |
| 6 | g.7583315T>C | CA362689985 | DSP | c.4724T>C (p.Ile1575Thr) c.6053T>C (p.Ile2018Thr) c.4256T>C (p.Ile1419Thr) | ClinVar dbSNP |
| 6 | g.7583315T>G | CA362689986 | DSP | c.4724T>G (p.Ile1575Ser) c.6053T>G (p.Ile2018Ser) c.4256T>G (p.Ile1419Ser) | |
| 6 | g.7583315T= | CA1608607798 | DSP | c.4724T= (p.Ile1575=) c.6053T= (p.Ile2018=) c.4256T= (p.Ile1419=) | |
| 6 | g.7583316C>A | CA448715669 | DSP | c.4725C>A (p.Ile1575=) c.6054C>A (p.Ile2018=) c.4257C>A (p.Ile1419=) | |
| 6 | g.7583316C= | CA1608607808 | DSP | c.4725C= (p.Ile1575=) c.6054C= (p.Ile2018=) c.4257C= (p.Ile1419=) | |
| 6 | g.7583316C>G | CA362689987 | DSP | c.4725C>G (p.Ile1575Met) c.6054C>G (p.Ile2018Met) c.4257C>G (p.Ile1419Met) | |
| 6 | g.7583316C>T | CA046716 | DSP | c.4725C>T (p.Ile1575=) c.6054C>T (p.Ile2018=) c.4257C>T (p.Ile1419=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583317G>A | CA046727 | DSP | c.4726G>A (p.Ala1576Thr) c.6055G>A (p.Ala2019Thr) c.4258G>A (p.Ala1420Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583317G>C | CA362689988 | DSP | c.4726G>C (p.Ala1576Pro) c.6055G>C (p.Ala2019Pro) c.4258G>C (p.Ala1420Pro) | |
| 6 | g.7583317G= | CA1608607820 | DSP | c.4726G= (p.Ala1576=) c.6055G= (p.Ala2019=) c.4258G= (p.Ala1420=) | |
| 6 | g.7583317G>T | CA006697 | DSP | c.4726G>T (p.Ala1576Ser) c.6055G>T (p.Ala2019Ser) c.4258G>T (p.Ala1420Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583318C>A | CA362689991 | DSP | c.4727C>A (p.Ala1576Asp) c.6056C>A (p.Ala2019Asp) c.4259C>A (p.Ala1420Asp) | |
| 6 | g.7583318C>G | CA362689990 | DSP | c.4727C>G (p.Ala1576Gly) c.6056C>G (p.Ala2019Gly) c.4259C>G (p.Ala1420Gly) | |
| 6 | g.7583318C>T | CA362689989 | DSP | c.4727C>T (p.Ala1576Val) c.6056C>T (p.Ala2019Val) c.4259C>T (p.Ala1420Val) | |
| 6 | g.7583319T>A | CA448715673 | DSP | c.4728T>A (p.Ala1576=) c.6057T>A (p.Ala2019=) c.4260T>A (p.Ala1420=) | |
| 6 | g.7583319T>C | CA448715675 | DSP | c.4728T>C (p.Ala1576=) c.6057T>C (p.Ala2019=) c.4260T>C (p.Ala1420=) | |
| 6 | g.7583319T>G | CA448715676 | DSP | c.4728T>G (p.Ala1576=) c.6057T>G (p.Ala2019=) c.4260T>G (p.Ala1420=) | |
| 6 | g.7583320G>A | CA362689992 | DSP | c.4729G>A (p.Gly1577Arg) c.6058G>A (p.Gly2020Arg) c.4261G>A (p.Gly1421Arg) | COSMIC |
| 6 | g.7583320G>C | CA362689993 | DSP | c.4729G>C (p.Gly1577Arg) c.6058G>C (p.Gly2020Arg) c.4261G>C (p.Gly1421Arg) | |
| 6 | g.7583320G>T | CA362689994 | DSP | c.4729G>T (p.Gly1577Ter) c.6058G>T (p.Gly2020Ter) c.4261G>T (p.Gly1421Ter) | |
| 6 | g.7583321G>A | CA362689995 | DSP | c.4730G>A (p.Gly1577Glu) c.6059G>A (p.Gly2020Glu) c.4262G>A (p.Gly1421Glu) | COSMIC |
| 6 | g.7583321G>C | CA362689996 | DSP | c.4730G>C (p.Gly1577Ala) c.6059G>C (p.Gly2020Ala) c.4262G>C (p.Gly1421Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583321G= | CA1608607825 | DSP | c.4730G= (p.Gly1577=) c.6059G= (p.Gly2020=) c.4262G= (p.Gly1421=) | |
| 6 | g.7583321G>T | CA362689997 | DSP | c.4730G>T (p.Gly1577Val) c.6059G>T (p.Gly2020Val) c.4262G>T (p.Gly1421Val) | |
| 6 | g.7583322A>C | CA448715678 | DSP | c.4731A>C (p.Gly1577=) c.6060A>C (p.Gly2020=) c.4263A>C (p.Gly1421=) | |
| 6 | g.7583322A>G | CA448715679 | DSP | c.4731A>G (p.Gly1577=) c.6060A>G (p.Gly2020=) c.4263A>G (p.Gly1421=) | |
| 6 | g.7583322A>T | CA448715680 | DSP | c.4731A>T (p.Gly1577=) c.6060A>T (p.Gly2020=) c.4263A>T (p.Gly1421=) | |
| 6 | g.7583323G>A | CA362689998 | DSP | c.4732G>A (p.Ala1578Thr) c.6061G>A (p.Ala2021Thr) c.4264G>A (p.Ala1422Thr) | gnomAD v4 |
| 6 | g.7583323G>C | CA362689999 | DSP | c.4732G>C (p.Ala1578Pro) c.6061G>C (p.Ala2021Pro) c.4264G>C (p.Ala1422Pro) | |
| 6 | g.7583323G>T | CA362690000 | DSP | c.4732G>T (p.Ala1578Ser) c.6061G>T (p.Ala2021Ser) c.4264G>T (p.Ala1422Ser) | |
| 6 | g.7583324C>A | CA046745 | DSP | c.4733C>A (p.Ala1578Glu) c.6062C>A (p.Ala2021Glu) c.4265C>A (p.Ala1422Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583324C= | CA1608607831 | DSP | c.4733C= (p.Ala1578=) c.6062C= (p.Ala2021=) c.4265C= (p.Ala1422=) | |
| 6 | g.7583324C>G | CA046754 | DSP | c.4733C>G (p.Ala1578Gly) c.6062C>G (p.Ala2021Gly) c.4265C>G (p.Ala1422Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583324C>T | CA362690001 | DSP | c.4733C>T (p.Ala1578Val) c.6062C>T (p.Ala2021Val) c.4265C>T (p.Ala1422Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583325A= | CA1608607837 | DSP | c.4734A= (p.Ala1578=) c.6063A= (p.Ala2021=) c.4266A= (p.Ala1422=) | |
| 6 | g.7583325A>C | CA448715682 | DSP | c.4734A>C (p.Ala1578=) c.6063A>C (p.Ala2021=) c.4266A>C (p.Ala1422=) | |
| 6 | g.7583325A>G | CA448715683 | DSP | c.4734A>G (p.Ala1578=) c.6063A>G (p.Ala2021=) c.4266A>G (p.Ala1422=) | |
| 6 | g.7583325A>T | CA448715684 | DSP | c.4734A>T (p.Ala1578=) c.6063A>T (p.Ala2021=) c.4266A>T (p.Ala1422=) | ClinVar dbSNP |
| 6 | g.7583326T>A | CA362690004 | DSP | c.4735T>A (p.Ser1579Thr) c.6064T>A (p.Ser2022Thr) c.4267T>A (p.Ser1423Thr) | gnomAD v4 |
| 6 | g.7583326T>C | CA362690003 | DSP | c.4735T>C (p.Ser1579Pro) c.6064T>C (p.Ser2022Pro) c.4267T>C (p.Ser1423Pro) | |
| 6 | g.7583326T>G | CA362690002 | DSP | c.4735T>G (p.Ser1579Ala) c.6064T>G (p.Ser2022Ala) c.4267T>G (p.Ser1423Ala) | |
| 6 | g.7583327C>A | CA362690005 | DSP | c.4736C>A (p.Ser1579Tyr) c.6065C>A (p.Ser2022Tyr) c.4268C>A (p.Ser1423Tyr) | |
| 6 | g.7583327C= | CA1608607839 | DSP | c.4736C= (p.Ser1579=) c.6065C= (p.Ser2022=) c.4268C= (p.Ser1423=) | |
| 6 | g.7583327C>G | CA362690006 | DSP | c.4736C>G (p.Ser1579Cys) c.6065C>G (p.Ser2022Cys) c.4268C>G (p.Ser1423Cys) | |
| 6 | g.7583327C>T | CA362690007 | DSP | c.4736C>T (p.Ser1579Phe) c.6065C>T (p.Ser2022Phe) c.4268C>T (p.Ser1423Phe) | dbSNP |
| 6 | g.7583328T>A | CA448715689 | DSP | c.4737T>A (p.Ser1579=) c.6066T>A (p.Ser2022=) c.4269T>A (p.Ser1423=) | |
| 6 | g.7583328T>C | CA448715688 | DSP | c.4737T>C (p.Ser1579=) c.6066T>C (p.Ser2022=) c.4269T>C (p.Ser1423=) | |
| 6 | g.7583328T>G | CA448715687 | DSP | c.4737T>G (p.Ser1579=) c.6066T>G (p.Ser2022=) c.4269T>G (p.Ser1423=) | |
| 6 | g.7583329G>A | CA362690008 | DSP | c.4738G>A (p.Ala1580Thr) c.6067G>A (p.Ala2023Thr) c.4270G>A (p.Ala1424Thr) | gnomAD v4 |
| 6 | g.7583329G>C | CA362690009 | DSP | c.4738G>C (p.Ala1580Pro) c.6067G>C (p.Ala2023Pro) c.4270G>C (p.Ala1424Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583329G= | CA1608607844 | DSP | c.4738G= (p.Ala1580=) c.6067G= (p.Ala2023=) c.4270G= (p.Ala1424=) | |
| 6 | g.7583329G>T | CA046765 | DSP | c.4738G>T (p.Ala1580Ser) c.6067G>T (p.Ala2023Ser) c.4270G>T (p.Ala1424Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583330C>A | CA362690010 | DSP | c.4739C>A (p.Ala1580Asp) c.6068C>A (p.Ala2023Asp) c.4271C>A (p.Ala1424Asp) | |
| 6 | g.7583330C= | CA1608607845 | DSP | c.4739C= (p.Ala1580=) c.6068C= (p.Ala2023=) c.4271C= (p.Ala1424=) | |
| 6 | g.7583330C>G | CA046788 | DSP | c.4739C>G (p.Ala1580Gly) c.6068C>G (p.Ala2023Gly) c.4271C>G (p.Ala1424Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583330C>T | CA362690011 | DSP | c.4739C>T (p.Ala1580Val) c.6068C>T (p.Ala2023Val) c.4271C>T (p.Ala1424Val) | dbSNP gnomAD v2 |
| 6 | g.7583331T>A | CA448715694 | DSP | c.4740T>A (p.Ala1580=) c.6069T>A (p.Ala2023=) c.4272T>A (p.Ala1424=) | |
| 6 | g.7583331T>C | CA046802 | DSP | c.4740T>C (p.Ala1580=) c.6069T>C (p.Ala2023=) c.4272T>C (p.Ala1424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583331T>G | CA448715695 | DSP | c.4740T>G (p.Ala1580=) c.6069T>G (p.Ala2023=) c.4272T>G (p.Ala1424=) | gnomAD v4 |
| 6 | g.7583331T= | CA1608607847 | DSP | c.4740T= (p.Ala1580=) c.6069T= (p.Ala2023=) c.4272T= (p.Ala1424=) | |
| 6 | g.7583332T>A | CA362690012 | DSP | c.4741T>A (p.Ser1581Thr) c.6070T>A (p.Ser2024Thr) c.4273T>A (p.Ser1425Thr) | |
| 6 | g.7583332T>C | CA362690013 | DSP | c.4741T>C (p.Ser1581Pro) c.6070T>C (p.Ser2024Pro) c.4273T>C (p.Ser1425Pro) | |
| 6 | g.7583332T>G | CA362690014 | DSP | c.4741T>G (p.Ser1581Ala) c.6070T>G (p.Ser2024Ala) c.4273T>G (p.Ser1425Ala) | |
| 6 | g.7583333C>A | CA362690016 | DSP | c.4742C>A (p.Ser1581Tyr) c.6071C>A (p.Ser2024Tyr) c.4274C>A (p.Ser1425Tyr) | |
| 6 | g.7583333C= | CA1608607851 | DSP | c.4742C= (p.Ser1581=) c.6071C= (p.Ser2024=) c.4274C= (p.Ser1425=) | |
| 6 | g.7583333C>G | CA362690015 | DSP | c.4742C>G (p.Ser1581Cys) c.6071C>G (p.Ser2024Cys) c.4274C>G (p.Ser1425Cys) | |
| 6 | g.7583333C>T | CA046810 | DSP | c.4742C>T (p.Ser1581Phe) c.6071C>T (p.Ser2024Phe) c.4274C>T (p.Ser1425Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583334T>A | CA448715700 | DSP | c.4743T>A (p.Ser1581=) c.6072T>A (p.Ser2024=) c.4275T>A (p.Ser1425=) | |
| 6 | g.7583334T>C | CA133974291 | DSP | c.4743T>C (p.Ser1581=) c.6072T>C (p.Ser2024=) c.4275T>C (p.Ser1425=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583334T>G | CA448715702 | DSP | c.4743T>G (p.Ser1581=) c.6072T>G (p.Ser2024=) c.4275T>G (p.Ser1425=) | |
| 6 | g.7583334T= | CA1608607852 | DSP | c.4743T= (p.Ser1581=) c.6072T= (p.Ser2024=) c.4275T= (p.Ser1425=) | |
| 6 | g.7583335C>A | CA362690017 | DSP | c.4744C>A (p.Pro1582Thr) c.6073C>A (p.Pro2025Thr) c.4276C>A (p.Pro1426Thr) | |
| 6 | g.7583335C= | CA1608607857 | DSP | c.4744C= (p.Pro1582=) c.6073C= (p.Pro2025=) c.4276C= (p.Pro1426=) | |
| 6 | g.7583335C>G | CA362690018 | DSP | c.4744C>G (p.Pro1582Ala) c.6073C>G (p.Pro2025Ala) c.4276C>G (p.Pro1426Ala) | |
| 6 | g.7583335C>T | CA362690019 | DSP | c.4744C>T (p.Pro1582Ser) c.6073C>T (p.Pro2025Ser) c.4276C>T (p.Pro1426Ser) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583336C>A | CA362690020 | DSP | c.4745C>A (p.Pro1582His) c.6074C>A (p.Pro2025His) c.4277C>A (p.Pro1426His) | |
| 6 | g.7583336C>G | CA362690021 | DSP | c.4745C>G (p.Pro1582Arg) c.6074C>G (p.Pro2025Arg) c.4277C>G (p.Pro1426Arg) | |
| 6 | g.7583336C>T | CA362690022 | DSP | c.4745C>T (p.Pro1582Leu) c.6074C>T (p.Pro2025Leu) c.4277C>T (p.Pro1426Leu) | |
| 6 | g.7583337T>A | CA448715706 | DSP | c.4746T>A (p.Pro1582=) c.6075T>A (p.Pro2025=) c.4278T>A (p.Pro1426=) | ClinVar dbSNP |
| 6 | g.7583337T>C | CA448715707 | DSP | c.4746T>C (p.Pro1582=) c.6075T>C (p.Pro2025=) c.4278T>C (p.Pro1426=) | |
| 6 | g.7583337T>G | CA448715708 | DSP | c.4746T>G (p.Pro1582=) c.6075T>G (p.Pro2025=) c.4278T>G (p.Pro1426=) | |
| 6 | g.7583338A>C | CA362690023 | DSP | c.4747A>C (p.Lys1583Gln) c.6076A>C (p.Lys2026Gln) c.4279A>C (p.Lys1427Gln) | |
| 6 | g.7583338A>G | CA362690024 | DSP | c.4747A>G (p.Lys1583Glu) c.6076A>G (p.Lys2026Glu) c.4279A>G (p.Lys1427Glu) | |
| 6 | g.7583338A>T | CA362690025 | DSP | c.4747A>T (p.Lys1583Ter) c.6076A>T (p.Lys2026Ter) c.4279A>T (p.Lys1427Ter) | |
| 6 | g.7583339A>C | CA362690026 | DSP | c.4748A>C (p.Lys1583Thr) c.6077A>C (p.Lys2026Thr) c.4280A>C (p.Lys1427Thr) | gnomAD v4 |
| 6 | g.7583339A>G | CA362690027 | DSP | c.4748A>G (p.Lys1583Arg) c.6077A>G (p.Lys2026Arg) c.4280A>G (p.Lys1427Arg) | |
| 6 | g.7583339A>T | CA362690028 | DSP | c.4748A>T (p.Lys1583Met) c.6077A>T (p.Lys2026Met) c.4280A>T (p.Lys1427Met) | |
| 6 | g.7583340G>A | CA448715714 | DSP | c.4749G>A (p.Lys1583=) c.6078G>A (p.Lys2026=) c.4281G>A (p.Lys1427=) | |
| 6 | g.7583340G>C | CA362690029 | DSP | c.4749G>C (p.Lys1583Asn) c.6078G>C (p.Lys2026Asn) c.4281G>C (p.Lys1427Asn) | |
| 6 | g.7583340G>T | CA362690030 | DSP | c.4749G>T (p.Lys1583Asn) c.6078G>T (p.Lys2026Asn) c.4281G>T (p.Lys1427Asn) | |
| 6 | g.7583341G>A | CA046828 | DSP | c.4750G>A (p.Glu1584Lys) c.6079G>A (p.Glu2027Lys) c.4282G>A (p.Glu1428Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7583341G>C | CA362690032 | DSP | c.4750G>C (p.Glu1584Gln) c.6079G>C (p.Glu2027Gln) c.4282G>C (p.Glu1428Gln) | |
| 6 | g.7583341G= | CA1608607862 | DSP | c.4750G= (p.Glu1584=) c.6079G= (p.Glu2027=) c.4282G= (p.Glu1428=) | |
| 6 | g.7583341G>T | CA362690031 | DSP | c.4750G>T (p.Glu1584Ter) c.6079G>T (p.Glu2027Ter) c.4282G>T (p.Glu1428Ter) | |
| 6 | g.7583342A>C | CA362690033 | DSP | c.4751A>C (p.Glu1584Ala) c.6080A>C (p.Glu2027Ala) c.4283A>C (p.Glu1428Ala) | |
| 6 | g.7583342A>G | CA362690034 | DSP | c.4751A>G (p.Glu1584Gly) c.6080A>G (p.Glu2027Gly) c.4283A>G (p.Glu1428Gly) | |
| 6 | g.7583342A>T | CA362690035 | DSP | c.4751A>T (p.Glu1584Val) c.6080A>T (p.Glu2027Val) c.4283A>T (p.Glu1428Val) | |
| 6 | g.7583346dup | CA2573140816 | DSP | c.4755dup (p.Tyr1586IlefsTer?) c.6084dup (p.Tyr2029IlefsTer?) c.4287dup (p.Tyr1430IlefsTer?) | ClinVar dbSNP |
| 6 | g.7583343A>C | CA362690036 | DSP | c.4752A>C (p.Glu1584Asp) c.6081A>C (p.Glu2027Asp) c.4284A>C (p.Glu1428Asp) | |
| 6 | g.7583343A>G | CA448715717 | DSP | c.4752A>G (p.Glu1584=) c.6081A>G (p.Glu2027=) c.4284A>G (p.Glu1428=) | gnomAD v4 COSMIC |
| 6 | g.7583343A>T | CA362690037 | DSP | c.4752A>T (p.Glu1584Asp) c.6081A>T (p.Glu2027Asp) c.4284A>T (p.Glu1428Asp) | |
| 6 | g.7583344A>C | CA362690038 | DSP | c.4753A>C (p.Lys1585Gln) c.6082A>C (p.Lys2028Gln) c.4285A>C (p.Lys1429Gln) | |
| 6 | g.7583344A>G | CA362690039 | DSP | c.4753A>G (p.Lys1585Glu) c.6082A>G (p.Lys2028Glu) c.4285A>G (p.Lys1429Glu) | |
| 6 | g.7583344A>T | CA362690040 | DSP | c.4753A>T (p.Lys1585Ter) c.6082A>T (p.Lys2028Ter) c.4285A>T (p.Lys1429Ter) | |
| 6 | g.7583345A>C | CA362690041 | DSP | c.4754A>C (p.Lys1585Thr) c.6083A>C (p.Lys2028Thr) c.4286A>C (p.Lys1429Thr) | |
| 6 | g.7583345A>G | CA362690042 | DSP | c.4754A>G (p.Lys1585Arg) c.6083A>G (p.Lys2028Arg) c.4286A>G (p.Lys1429Arg) | |
| 6 | g.7583345A>T | CA362690043 | DSP | c.4754A>T (p.Lys1585Ile) c.6083A>T (p.Lys2028Ile) c.4286A>T (p.Lys1429Ile) | |
| 6 | g.7583346A>C | CA362690044 | DSP | c.4755A>C (p.Lys1585Asn) c.6084A>C (p.Lys2028Asn) c.4287A>C (p.Lys1429Asn) | |
| 6 | g.7583346A>G | CA448715722 | DSP | c.4755A>G (p.Lys1585=) c.6084A>G (p.Lys2028=) c.4287A>G (p.Lys1429=) | ClinVar dbSNP COSMIC |
| 6 | g.7583346A>T | CA362690045 | DSP | c.4755A>T (p.Lys1585Asn) c.6084A>T (p.Lys2028Asn) c.4287A>T (p.Lys1429Asn) | |
| 6 | g.7583347T>A | CA046842 | DSP | c.4756T>A (p.Tyr1586Asn) c.6085T>A (p.Tyr2029Asn) c.4288T>A (p.Tyr1430Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583347T>C | CA362690047 | DSP | c.4756T>C (p.Tyr1586His) c.6085T>C (p.Tyr2029His) c.4288T>C (p.Tyr1430His) | ClinVar dbSNP |
| 6 | g.7583347T>G | CA362690046 | DSP | c.4756T>G (p.Tyr1586Asp) c.6085T>G (p.Tyr2029Asp) c.4288T>G (p.Tyr1430Asp) | |
| 6 | g.7583347T= | CA1608607867 | DSP | c.4756T= (p.Tyr1586=) c.6085T= (p.Tyr2029=) c.4288T= (p.Tyr1430=) | |
| 6 | g.7583347dup | CA2580075533 | DSP | c.4756dup (p.Tyr1586LeufsTer?) c.6085dup (p.Tyr2029LeufsTer?) c.4288dup (p.Tyr1430LeufsTer?) | ClinVar |
| 6 | g.7583348A= | CA1608607873 | DSP | c.4757A= (p.Tyr1586=) c.6086A= (p.Tyr2029=) c.4289A= (p.Tyr1430=) | |
| 6 | g.7583348A>C | CA362690048 | DSP | c.4757A>C (p.Tyr1586Ser) c.6086A>C (p.Tyr2029Ser) c.4289A>C (p.Tyr1430Ser) | |
| 6 | g.7583348A>G | CA046855 | DSP | c.4757A>G (p.Tyr1586Cys) c.6086A>G (p.Tyr2029Cys) c.4289A>G (p.Tyr1430Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583348A>T | CA362690049 | DSP | c.4757A>T (p.Tyr1586Phe) c.6086A>T (p.Tyr2029Phe) c.4289A>T (p.Tyr1430Phe) | |
| 6 | g.7583349C>A | CA362690050 | DSP | c.4758C>A (p.Tyr1586Ter) c.6087C>A (p.Tyr2029Ter) c.4290C>A (p.Tyr1430Ter) | |
| 6 | g.7583349C>G | CA362690051 | DSP | c.4758C>G (p.Tyr1586Ter) c.6087C>G (p.Tyr2029Ter) c.4290C>G (p.Tyr1430Ter) | |
| 6 | g.7583349C>T | CA448715729 | DSP | c.4758C>T (p.Tyr1586=) c.6087C>T (p.Tyr2029=) c.4290C>T (p.Tyr1430=) | COSMIC |
| 6 | g.7583350T>A | CA362690052 | DSP | c.4759T>A (p.Ser1587Thr) c.6088T>A (p.Ser2030Thr) c.4291T>A (p.Ser1431Thr) | |
| 6 | g.7583350T>C | CA362690053 | DSP | c.4759T>C (p.Ser1587Pro) c.6088T>C (p.Ser2030Pro) c.4291T>C (p.Ser1431Pro) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583350T>G | CA362690054 | DSP | c.4759T>G (p.Ser1587Ala) c.6088T>G (p.Ser2030Ala) c.4291T>G (p.Ser1431Ala) | |
| 6 | g.7583350T= | CA1608607880 | DSP | c.4759T= (p.Ser1587=) c.6088T= (p.Ser2030=) c.4291T= (p.Ser1431=) | |
| 6 | g.7583351C>A | CA362690055 | DSP | c.4760C>A (p.Ser1587Tyr) c.6089C>A (p.Ser2030Tyr) c.4292C>A (p.Ser1431Tyr) | ClinVar dbSNP |
| 6 | g.7583351C= | CA1608607889 | DSP | c.4760C= (p.Ser1587=) c.6089C= (p.Ser2030=) c.4292C= (p.Ser1431=) | |
| 6 | g.7583351C>G | CA362690056 | DSP | c.4760C>G (p.Ser1587Cys) c.6089C>G (p.Ser2030Cys) c.4292C>G (p.Ser1431Cys) | dbSNP gnomAD v4 |
| 6 | g.7583351C>T | CA133974313 | DSP | c.4760C>T (p.Ser1587Phe) c.6089C>T (p.Ser2030Phe) c.4292C>T (p.Ser1431Phe) | dbSNP gnomAD v4 |
| 6 | g.7583351_7583353delinsCTT | CA1608607886 | DSP | c.4760_4762delinsCTT (p.Ser1587=) c.6089_6091delinsCTT (p.Ser2030=) c.4292_4294delinsCTT (p.Ser1431=) | |
| 6 | g.7583352T>A | CA448715734 | DSP | c.4761T>A (p.Ser1587=) c.6090T>A (p.Ser2030=) c.4293T>A (p.Ser1431=) | ClinVar |
| 6 | g.7583352T>C | CA448715735 | DSP | c.4761T>C (p.Ser1587=) c.6090T>C (p.Ser2030=) c.4293T>C (p.Ser1431=) | gnomAD v4 |
| 6 | g.7583352T>G | CA448715736 | DSP | c.4761T>G (p.Ser1587=) c.6090T>G (p.Ser2030=) c.4293T>G (p.Ser1431=) | |
| 6 | g.7583353_7583354del | CA006713 | DSP | c.4762_4763del (p.Leu1588GlyfsTer29) c.6091_6092del (p.Leu2031GlyfsTer29) c.4294_4295del (p.Leu1432GlyfsTer29) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583353T>A | CA362690057 | DSP | c.4762T>A (p.Leu1588Met) c.6091T>A (p.Leu2031Met) c.4294T>A (p.Leu1432Met) | |
| 6 | g.7583353T>C | CA448715738 | DSP | c.4762T>C (p.Leu1588=) c.6091T>C (p.Leu2031=) c.4294T>C (p.Leu1432=) | |
| 6 | g.7583353T>G | CA362690058 | DSP | c.4762T>G (p.Leu1588Val) c.6091T>G (p.Leu2031Val) c.4294T>G (p.Leu1432Val) | |
| 6 | g.7583354T>A | CA362690059 | DSP | c.4763T>A (p.Leu1588Ter) c.6092T>A (p.Leu2031Ter) c.4295T>A (p.Leu1432Ter) | |
| 6 | g.7583354T>C | CA046870 | DSP | c.4763T>C (p.Leu1588Ser) c.6092T>C (p.Leu2031Ser) c.4295T>C (p.Leu1432Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583354T>G | CA362690060 | DSP | c.4763T>G (p.Leu1588Trp) c.6092T>G (p.Leu2031Trp) c.4295T>G (p.Leu1432Trp) | |
| 6 | g.7583354T= | CA1608607900 | DSP | c.4763T= (p.Leu1588=) c.6092T= (p.Leu2031=) c.4295T= (p.Leu1432=) | |
| 6 | g.7583355G>A | CA448715742 | DSP | c.4764G>A (p.Leu1588=) c.6093G>A (p.Leu2031=) c.4296G>A (p.Leu1432=) | |
| 6 | g.7583355G>C | CA362690061 | DSP | c.4764G>C (p.Leu1588Phe) c.6093G>C (p.Leu2031Phe) c.4296G>C (p.Leu1432Phe) | |
| 6 | g.7583355G>T | CA362690062 | DSP | c.4764G>T (p.Leu1588Phe) c.6093G>T (p.Leu2031Phe) c.4296G>T (p.Leu1432Phe) | |
| 6 | g.7583356G>A | CA133974330 | DSP | c.4765G>A (p.Val1589Ile) c.6094G>A (p.Val2032Ile) c.4297G>A (p.Val1433Ile) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7583356G>C | CA362690063 | DSP | c.4765G>C (p.Val1589Leu) c.6094G>C (p.Val2032Leu) c.4297G>C (p.Val1433Leu) | |
| 6 | g.7583356G= | CA1608607906 | DSP | c.4765G= (p.Val1589=) c.6094G= (p.Val2032=) c.4297G= (p.Val1433=) | |
| 6 | g.7583356G>T | CA362690064 | DSP | c.4765G>T (p.Val1589Leu) c.6094G>T (p.Val2032Leu) c.4297G>T (p.Val1433Leu) | |
| 6 | g.7583357T>A | CA362690065 | DSP | c.4766T>A (p.Val1589Glu) c.6095T>A (p.Val2032Glu) c.4298T>A (p.Val1433Glu) | |
| 6 | g.7583357T>C | CA362690066 | DSP | c.4766T>C (p.Val1589Ala) c.6095T>C (p.Val2032Ala) c.4298T>C (p.Val1433Ala) | |
| 6 | g.7583357T>G | CA362690067 | DSP | c.4766T>G (p.Val1589Gly) c.6095T>G (p.Val2032Gly) c.4298T>G (p.Val1433Gly) | |
| 6 | g.7583358A>C | CA448715747 | DSP | c.4767A>C (p.Val1589=) c.6096A>C (p.Val2032=) c.4299A>C (p.Val1433=) | |
| 6 | g.7583358A>G | CA448715748 | DSP | c.4767A>G (p.Val1589=) c.6096A>G (p.Val2032=) c.4299A>G (p.Val1433=) | ClinVar |
| 6 | g.7583358A>T | CA448715749 | DSP | c.4767A>T (p.Val1589=) c.6096A>T (p.Val2032=) c.4299A>T (p.Val1433=) | |
| 6 | g.7583359G>A | CA046883 | DSP | c.4768G>A (p.Glu1590Lys) c.6097G>A (p.Glu2033Lys) c.4300G>A (p.Glu1434Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7583359G>C | CA362690069 | DSP | c.4768G>C (p.Glu1590Gln) c.6097G>C (p.Glu2033Gln) c.4300G>C (p.Glu1434Gln) | |
| 6 | g.7583359G= | CA1608607913 | DSP | c.4768G= (p.Glu1590=) c.6097G= (p.Glu2033=) c.4300G= (p.Glu1434=) | |
| 6 | g.7583359G>T | CA362690068 | DSP | c.4768G>T (p.Glu1590Ter) c.6097G>T (p.Glu2033Ter) c.4300G>T (p.Glu1434Ter) | |
| 6 | g.7583360A>C | CA362690070 | DSP | c.4769A>C (p.Glu1590Ala) c.6098A>C (p.Glu2033Ala) c.4301A>C (p.Glu1434Ala) | |
| 6 | g.7583360A>G | CA362690071 | DSP | c.4769A>G (p.Glu1590Gly) c.6098A>G (p.Glu2033Gly) c.4301A>G (p.Glu1434Gly) | |
| 6 | g.7583360A>T | CA362690072 | DSP | c.4769A>T (p.Glu1590Val) c.6098A>T (p.Glu2033Val) c.4301A>T (p.Glu1434Val) | |
| 6 | g.7583361G>A | CA448715757 | DSP | c.4770G>A (p.Glu1590=) c.6099G>A (p.Glu2033=) c.4302G>A (p.Glu1434=) | ClinVar gnomAD v4 |
| 6 | g.7583361G>C | CA362690073 | DSP | c.4770G>C (p.Glu1590Asp) c.6099G>C (p.Glu2033Asp) c.4302G>C (p.Glu1434Asp) | |
| 6 | g.7583361G>T | CA362690074 | DSP | c.4770G>T (p.Glu1590Asp) c.6099G>T (p.Glu2033Asp) c.4302G>T (p.Glu1434Asp) | |
| 6 | g.7583362G>A | CA133974331 | DSP | c.4771G>A (p.Ala1591Thr) c.6100G>A (p.Ala2034Thr) c.4303G>A (p.Ala1435Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583362G>C | CA362690076 | DSP | c.4771G>C (p.Ala1591Pro) c.6100G>C (p.Ala2034Pro) c.4303G>C (p.Ala1435Pro) | |
| 6 | g.7583362G= | CA1608607915 | DSP | c.4771G= (p.Ala1591=) c.6100G= (p.Ala2034=) c.4303G= (p.Ala1435=) | |
| 6 | g.7583362G>T | CA362690075 | DSP | c.4771G>T (p.Ala1591Ser) c.6100G>T (p.Ala2034Ser) c.4303G>T (p.Ala1435Ser) | |
| 6 | g.7583363C>A | CA362690077 | DSP | c.4772C>A (p.Ala1591Asp) c.6101C>A (p.Ala2034Asp) c.4304C>A (p.Ala1435Asp) | |
| 6 | g.7583363C>G | CA362690078 | DSP | c.4772C>G (p.Ala1591Gly) c.6101C>G (p.Ala2034Gly) c.4304C>G (p.Ala1435Gly) | gnomAD v4 |
| 6 | g.7583363C>T | CA362690079 | DSP | c.4772C>T (p.Ala1591Val) c.6101C>T (p.Ala2034Val) c.4304C>T (p.Ala1435Val) | |
| 6 | g.7583364C>A | CA448715763 | DSP | c.4773C>A (p.Ala1591=) c.6102C>A (p.Ala2034=) c.4305C>A (p.Ala1435=) | |
| 6 | g.7583364C>G | CA448715762 | DSP | c.4773C>G (p.Ala1591=) c.6102C>G (p.Ala2034=) c.4305C>G (p.Ala1435=) | |
| 6 | g.7583364C>T | CA448715760 | DSP | c.4773C>T (p.Ala1591=) c.6102C>T (p.Ala2034=) c.4305C>T (p.Ala1435=) | |
| 6 | g.7583365A= | CA1608607921 | DSP | c.4774A= (p.Lys1592=) c.6103A= (p.Lys2035=) c.4306A= (p.Lys1436=) | |
| 6 | g.7583365A>C | CA362690080 | DSP | c.4774A>C (p.Lys1592Gln) c.6103A>C (p.Lys2035Gln) c.4306A>C (p.Lys1436Gln) | |
| 6 | g.7583365A>G | CA362690081 | DSP | c.4774A>G (p.Lys1592Glu) c.6103A>G (p.Lys2035Glu) c.4306A>G (p.Lys1436Glu) | dbSNP |
| 6 | g.7583365A>T | CA362690082 | DSP | c.4774A>T (p.Lys1592Ter) c.6103A>T (p.Lys2035Ter) c.4306A>T (p.Lys1436Ter) | |
| 6 | g.7583366A>C | CA362690083 | DSP | c.4775A>C (p.Lys1592Thr) c.6104A>C (p.Lys2035Thr) c.4307A>C (p.Lys1436Thr) | ClinVar |
| 6 | g.7583366A>G | CA362690084 | DSP | c.4775A>G (p.Lys1592Arg) c.6104A>G (p.Lys2035Arg) c.4307A>G (p.Lys1436Arg) | |
| 6 | g.7583366A>T | CA362690085 | DSP | c.4775A>T (p.Lys1592Met) c.6104A>T (p.Lys2035Met) c.4307A>T (p.Lys1436Met) | |
| 6 | g.7583367G>A | CA448715766 | DSP | c.4776G>A (p.Lys1592=) c.6105G>A (p.Lys2035=) c.4308G>A (p.Lys1436=) | ClinVar dbSNP |
| 6 | g.7583367G>C | CA362690086 | DSP | c.4776G>C (p.Lys1592Asn) c.6105G>C (p.Lys2035Asn) c.4308G>C (p.Lys1436Asn) | |
| 6 | g.7583367G>T | CA362690087 | DSP | c.4776G>T (p.Lys1592Asn) c.6105G>T (p.Lys2035Asn) c.4308G>T (p.Lys1436Asn) | |
| 6 | g.7583368A>C | CA448715768 | DSP | c.4777A>C (p.Arg1593=) c.6106A>C (p.Arg2036=) c.4309A>C (p.Arg1437=) | |
| 6 | g.7583368A>G | CA362690088 | DSP | c.4777A>G (p.Arg1593Gly) c.6106A>G (p.Arg2036Gly) c.4309A>G (p.Arg1437Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583368A>T | CA362690089 | DSP | c.4777A>T (p.Arg1593Ter) c.6106A>T (p.Arg2036Ter) c.4309A>T (p.Arg1437Ter) | |
| 6 | g.7583369G>A | CA362690090 | DSP | c.4778G>A (p.Arg1593Lys) c.6107G>A (p.Arg2036Lys) c.4310G>A (p.Arg1437Lys) | |
| 6 | g.7583369G>C | CA362690092 | DSP | c.4778G>C (p.Arg1593Thr) c.6107G>C (p.Arg2036Thr) c.4310G>C (p.Arg1437Thr) | |
| 6 | g.7583369G>T | CA362690091 | DSP | c.4778G>T (p.Arg1593Ile) c.6107G>T (p.Arg2036Ile) c.4310G>T (p.Arg1437Ile) | |
| 6 | g.7583370A>C | CA362690093 | DSP | c.4779A>C (p.Arg1593Ser) c.6108A>C (p.Arg2036Ser) c.4311A>C (p.Arg1437Ser) | |
| 6 | g.7583370A>G | CA448715771 | DSP | c.4779A>G (p.Arg1593=) c.6108A>G (p.Arg2036=) c.4311A>G (p.Arg1437=) | |
| 6 | g.7583370A>T | CA362690094 | DSP | c.4779A>T (p.Arg1593Ser) c.6108A>T (p.Arg2036Ser) c.4311A>T (p.Arg1437Ser) | |
| 6 | g.7583371A>C | CA362690095 | DSP | c.4780A>C (p.Lys1594Gln) c.6109A>C (p.Lys2037Gln) c.4312A>C (p.Lys1438Gln) | |
| 6 | g.7583371A>G | CA362690096 | DSP | c.4780A>G (p.Lys1594Glu) c.6109A>G (p.Lys2037Glu) c.4312A>G (p.Lys1438Glu) | |
| 6 | g.7583371A>T | CA362690097 | DSP | c.4780A>T (p.Lys1594Ter) c.6109A>T (p.Lys2037Ter) c.4312A>T (p.Lys1438Ter) | |
| 6 | g.7583372A>C | CA362690098 | DSP | c.4781A>C (p.Lys1594Thr) c.6110A>C (p.Lys2037Thr) c.4313A>C (p.Lys1438Thr) | |
| 6 | g.7583372A>G | CA362690099 | DSP | c.4781A>G (p.Lys1594Arg) c.6110A>G (p.Lys2037Arg) c.4313A>G (p.Lys1438Arg) | |
| 6 | g.7583372A>T | CA362690100 | DSP | c.4781A>T (p.Lys1594Met) c.6110A>T (p.Lys2037Met) c.4313A>T (p.Lys1438Met) | |
| 6 | g.7583373G>A | CA448715773 | DSP | c.4782G>A (p.Lys1594=) c.6111G>A (p.Lys2037=) c.4314G>A (p.Lys1438=) | |
| 6 | g.7583373G>C | CA362690101 | DSP | c.4782G>C (p.Lys1594Asn) c.6111G>C (p.Lys2037Asn) c.4314G>C (p.Lys1438Asn) | |
| 6 | g.7583373G>T | CA362690102 | DSP | c.4782G>T (p.Lys1594Asn) c.6111G>T (p.Lys2037Asn) c.4314G>T (p.Lys1438Asn) | dbSNP |
| 6 | g.7583374A= | CA1608607930 | DSP | c.4783A= (p.Lys1595=) c.6112A= (p.Lys2038=) c.4315A= (p.Lys1439=) | |
| 6 | g.7583374A>C | CA046904 | DSP | c.4783A>C (p.Lys1595Gln) c.6112A>C (p.Lys2038Gln) c.4315A>C (p.Lys1439Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583374A>G | CA362690103 | DSP | c.4783A>G (p.Lys1595Glu) c.6112A>G (p.Lys2038Glu) c.4315A>G (p.Lys1439Glu) | COSMIC |
| 6 | g.7583374A>T | CA362690104 | DSP | c.4783A>T (p.Lys1595Ter) c.6112A>T (p.Lys2038Ter) c.4315A>T (p.Lys1439Ter) | |
| 6 | g.7583375A>C | CA362690106 | DSP | c.4784A>C (p.Lys1595Thr) c.6113A>C (p.Lys2038Thr) c.4316A>C (p.Lys1439Thr) | |
| 6 | g.7583375A>G | CA362690107 | DSP | c.4784A>G (p.Lys1595Arg) c.6113A>G (p.Lys2038Arg) c.4316A>G (p.Lys1439Arg) | |
| 6 | g.7583375A>T | CA362690105 | DSP | c.4784A>T (p.Lys1595Ile) c.6113A>T (p.Lys2038Ile) c.4316A>T (p.Lys1439Ile) | |
| 6 | g.7583376A>C | CA362690108 | DSP | c.4785A>C (p.Lys1595Asn) c.6114A>C (p.Lys2038Asn) c.4317A>C (p.Lys1439Asn) | |
| 6 | g.7583376A>G | CA448715777 | DSP | c.4785A>G (p.Lys1595=) c.6114A>G (p.Lys2038=) c.4317A>G (p.Lys1439=) | COSMIC |
| 6 | g.7583376A>T | CA362690109 | DSP | c.4785A>T (p.Lys1595Asn) c.6114A>T (p.Lys2038Asn) c.4317A>T (p.Lys1439Asn) | |
| 6 | g.7583377T>A | CA362690110 | DSP | c.4786T>A (p.Leu1596Ile) c.6115T>A (p.Leu2039Ile) c.4318T>A (p.Leu1440Ile) | |
| 6 | g.7583377T>C | CA448715779 | DSP | c.4786T>C (p.Leu1596=) c.6115T>C (p.Leu2039=) c.4318T>C (p.Leu1440=) | |
| 6 | g.7583377T>G | CA362690111 | DSP | c.4786T>G (p.Leu1596Val) c.6115T>G (p.Leu2039Val) c.4318T>G (p.Leu1440Val) | |
| 6 | g.7583378T>A | CA362690114 | DSP | c.4787T>A (p.Leu1596Ter) c.6116T>A (p.Leu2039Ter) c.4319T>A (p.Leu1440Ter) | |
| 6 | g.7583378T>C | CA362690113 | DSP | c.4787T>C (p.Leu1596Ser) c.6116T>C (p.Leu2039Ser) c.4319T>C (p.Leu1440Ser) | |
| 6 | g.7583378T>G | CA362690112 | DSP | c.4787T>G (p.Leu1596Ter) c.6116T>G (p.Leu2039Ter) c.4319T>G (p.Leu1440Ter) | gnomAD v4 |
| 6 | g.7583379A= | CA1608607944 | DSP | c.4788A= (p.Leu1596=) c.6117A= (p.Leu2039=) c.4320A= (p.Leu1440=) | |
| 6 | g.7583379A>C | CA362690115 | DSP | c.4788A>C (p.Leu1596Phe) c.6117A>C (p.Leu2039Phe) c.4320A>C (p.Leu1440Phe) | |
| 6 | g.7583379A>G | CA133974341 | DSP | c.4788A>G (p.Leu1596=) c.6117A>G (p.Leu2039=) c.4320A>G (p.Leu1440=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583379A>T | CA046918 | DSP | c.4788A>T (p.Leu1596Phe) c.6117A>T (p.Leu2039Phe) c.4320A>T (p.Leu1440Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583380_7583383del | CA2695205954 | DSP | c.4789_4792del (p.Ile1597AlafsTer18) c.6118_6121del (p.Ile2040AlafsTer18) c.4321_4324del (p.Ile1441AlafsTer18) |