UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.7583201T>A | CA362689741 | DSP | c.4610T>A (p.Leu1537His) c.5939T>A (p.Leu1980His) c.4142T>A (p.Leu1381His) | |
| 6 | g.7583201T>C | CA362689742 | DSP | c.4610T>C (p.Leu1537Pro) c.5939T>C (p.Leu1980Pro) c.4142T>C (p.Leu1381Pro) | ClinVar dbSNP |
| 6 | g.7583201T>G | CA362689743 | DSP | c.4610T>G (p.Leu1537Arg) c.5939T>G (p.Leu1980Arg) c.4142T>G (p.Leu1381Arg) | |
| 6 | g.7583201T= | CA1608607515 | DSP | c.4610T= (p.Leu1537=) c.5939T= (p.Leu1980=) c.4142T= (p.Leu1381=) | |
| 6 | g.7583202C>A | CA448715553 | DSP | c.4611C>A (p.Leu1537=) c.5940C>A (p.Leu1980=) c.4143C>A (p.Leu1381=) | |
| 6 | g.7583202C>G | CA448715554 | DSP | c.4611C>G (p.Leu1537=) c.5940C>G (p.Leu1980=) c.4143C>G (p.Leu1381=) | |
| 6 | g.7583202C>T | CA448715555 | DSP | c.4611C>T (p.Leu1537=) c.5940C>T (p.Leu1980=) c.4143C>T (p.Leu1381=) | |
| 6 | g.7583202dup | CA913190019 | DSP | c.4611dup (p.Tyr1538LeufsTer2) c.5940dup (p.Tyr1981LeufsTer2) c.4143dup (p.Tyr1382LeufsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583203T>A | CA362689744 | DSP | c.4612T>A (p.Tyr1538Asn) c.5941T>A (p.Tyr1981Asn) c.4144T>A (p.Tyr1382Asn) | |
| 6 | g.7583203T>C | CA362689745 | DSP | c.4612T>C (p.Tyr1538His) c.5941T>C (p.Tyr1981His) c.4144T>C (p.Tyr1382His) | |
| 6 | g.7583203T>G | CA362689746 | DSP | c.4612T>G (p.Tyr1538Asp) c.5941T>G (p.Tyr1981Asp) c.4144T>G (p.Tyr1382Asp) | |
| 6 | g.7583204A= | CA1608607525 | DSP | c.4613A= (p.Tyr1538=) c.5942A= (p.Tyr1981=) c.4145A= (p.Tyr1382=) | |
| 6 | g.7583204A>C | CA362689747 | DSP | c.4613A>C (p.Tyr1538Ser) c.5942A>C (p.Tyr1981Ser) c.4145A>C (p.Tyr1382Ser) | |
| 6 | g.7583204A>G | CA362689749 | DSP | c.4613A>G (p.Tyr1538Cys) c.5942A>G (p.Tyr1981Cys) c.4145A>G (p.Tyr1382Cys) | ClinVar dbSNP COSMIC |
| 6 | g.7583204A>T | CA362689748 | DSP | c.4613A>T (p.Tyr1538Phe) c.5942A>T (p.Tyr1981Phe) c.4145A>T (p.Tyr1382Phe) | |
| 6 | g.7583205T>A | CA362689750 | DSP | c.4614T>A (p.Tyr1538Ter) c.5943T>A (p.Tyr1981Ter) c.4146T>A (p.Tyr1382Ter) | |
| 6 | g.7583205T>C | CA448715556 | DSP | c.4614T>C (p.Tyr1538=) c.5943T>C (p.Tyr1981=) c.4146T>C (p.Tyr1382=) | dbSNP |
| 6 | g.7583205T>G | CA362689751 | DSP | c.4614T>G (p.Tyr1538Ter) c.5943T>G (p.Tyr1981Ter) c.4146T>G (p.Tyr1382Ter) | |
| 6 | g.7583205T= | CA1608607530 | DSP | c.4614T= (p.Tyr1538=) c.5943T= (p.Tyr1981=) c.4146T= (p.Tyr1382=) | |
| 6 | g.7583205dup | CA2573140814 | DSP | c.4614dup (p.Glu1539Ter) c.5943dup (p.Glu1982Ter) c.4146dup (p.Glu1383Ter) | ClinVar dbSNP |
| 6 | g.7583206G>A | CA362689752 | DSP | c.4615G>A (p.Glu1539Lys) c.5944G>A (p.Glu1982Lys) c.4147G>A (p.Glu1383Lys) | |
| 6 | g.7583206G>C | CA362689753 | DSP | c.4615G>C (p.Glu1539Gln) c.5944G>C (p.Glu1982Gln) c.4147G>C (p.Glu1383Gln) | |
| 6 | g.7583206G>T | CA362689754 | DSP | c.4615G>T (p.Glu1539Ter) c.5944G>T (p.Glu1982Ter) c.4147G>T (p.Glu1383Ter) | COSMIC |
| 6 | g.7583207A>C | CA362689755 | DSP | c.4616A>C (p.Glu1539Ala) c.5945A>C (p.Glu1982Ala) c.4148A>C (p.Glu1383Ala) | |
| 6 | g.7583207A>G | CA362689756 | DSP | c.4616A>G (p.Glu1539Gly) c.5945A>G (p.Glu1982Gly) c.4148A>G (p.Glu1383Gly) | |
| 6 | g.7583207A>T | CA362689757 | DSP | c.4616A>T (p.Glu1539Val) c.5945A>T (p.Glu1982Val) c.4148A>T (p.Glu1383Val) | |
| 6 | g.7583208G>A | CA448715557 | DSP | c.4617G>A (p.Glu1539=) c.5946G>A (p.Glu1982=) c.4149G>A (p.Glu1383=) | |
| 6 | g.7583208G>C | CA362689758 | DSP | c.4617G>C (p.Glu1539Asp) c.5946G>C (p.Glu1982Asp) c.4149G>C (p.Glu1383Asp) | |
| 6 | g.7583208G>T | CA362689759 | DSP | c.4617G>T (p.Glu1539Asp) c.5946G>T (p.Glu1982Asp) c.4149G>T (p.Glu1383Asp) | |
| 6 | g.7583209T>A | CA362689760 | DSP | c.4618T>A (p.Cys1540Ser) c.5947T>A (p.Cys1983Ser) c.4150T>A (p.Cys1384Ser) | |
| 6 | g.7583209T>C | CA362689761 | DSP | c.4618T>C (p.Cys1540Arg) c.5947T>C (p.Cys1983Arg) c.4150T>C (p.Cys1384Arg) | gnomAD v4 |
| 6 | g.7583209T>G | CA362689762 | DSP | c.4618T>G (p.Cys1540Gly) c.5947T>G (p.Cys1983Gly) c.4150T>G (p.Cys1384Gly) | |
| 6 | g.7583210G>A | CA133974011 | DSP | c.4619G>A (p.Cys1540Tyr) c.5948G>A (p.Cys1983Tyr) c.4151G>A (p.Cys1384Tyr) | dbSNP gnomAD v4 |
| 6 | g.7583210G>C | CA362689764 | DSP | c.4619G>C (p.Cys1540Ser) c.5948G>C (p.Cys1983Ser) c.4151G>C (p.Cys1384Ser) | |
| 6 | g.7583210G= | CA1608607534 | DSP | c.4619G= (p.Cys1540=) c.5948G= (p.Cys1983=) c.4151G= (p.Cys1384=) | |
| 6 | g.7583210G>T | CA362689763 | DSP | c.4619G>T (p.Cys1540Phe) c.5948G>T (p.Cys1983Phe) c.4151G>T (p.Cys1384Phe) | |
| 6 | g.7583211T>A | CA362689765 | DSP | c.4620T>A (p.Cys1540Ter) c.5949T>A (p.Cys1983Ter) c.4152T>A (p.Cys1384Ter) | |
| 6 | g.7583211T>C | CA448715558 | DSP | c.4620T>C (p.Cys1540=) c.5949T>C (p.Cys1983=) c.4152T>C (p.Cys1384=) | |
| 6 | g.7583211T>G | CA362689766 | DSP | c.4620T>G (p.Cys1540Trp) c.5949T>G (p.Cys1983Trp) c.4152T>G (p.Cys1384Trp) | |
| 6 | g.7583212C>A | CA362689767 | DSP | c.4621C>A (p.Gln1541Lys) c.5950C>A (p.Gln1984Lys) c.4153C>A (p.Gln1385Lys) | |
| 6 | g.7583212C>G | CA362689768 | DSP | c.4621C>G (p.Gln1541Glu) c.5950C>G (p.Gln1984Glu) c.4153C>G (p.Gln1385Glu) | COSMIC |
| 6 | g.7583212C>T | CA362689769 | DSP | c.4621C>T (p.Gln1541Ter) c.5950C>T (p.Gln1984Ter) c.4153C>T (p.Gln1385Ter) | |
| 6 | g.7583213A= | CA1608607539 | DSP | c.4622A= (p.Gln1541=) c.5951A= (p.Gln1984=) c.4154A= (p.Gln1385=) | |
| 6 | g.7583213A>C | CA362689770 | DSP | c.4622A>C (p.Gln1541Pro) c.5951A>C (p.Gln1984Pro) c.4154A>C (p.Gln1385Pro) | |
| 6 | g.7583213A>G | CA362689771 | DSP | c.4622A>G (p.Gln1541Arg) c.5951A>G (p.Gln1984Arg) c.4154A>G (p.Gln1385Arg) | |
| 6 | g.7583213A>T | CA046112 | DSP | c.4622A>T (p.Gln1541Leu) c.5951A>T (p.Gln1984Leu) c.4154A>T (p.Gln1385Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583214G>A | CA448715559 | DSP | c.4623G>A (p.Gln1541=) c.5952G>A (p.Gln1984=) c.4155G>A (p.Gln1385=) | gnomAD v4 |
| 6 | g.7583214G>C | CA362689772 | DSP | c.4623G>C (p.Gln1541His) c.5952G>C (p.Gln1984His) c.4155G>C (p.Gln1385His) | |
| 6 | g.7583214G>T | CA362689773 | DSP | c.4623G>T (p.Gln1541His) c.5952G>T (p.Gln1984His) c.4155G>T (p.Gln1385His) | |
| 6 | g.7583215C>A | CA362689775 | DSP | c.4624C>A (p.Leu1542Met) c.5953C>A (p.Leu1985Met) c.4156C>A (p.Leu1386Met) | |
| 6 | g.7583215C= | CA1608607541 | DSP | c.4624C= (p.Leu1542=) c.5953C= (p.Leu1985=) c.4156C= (p.Leu1386=) | |
| 6 | g.7583215C>G | CA362689774 | DSP | c.4624C>G (p.Leu1542Val) c.5953C>G (p.Leu1985Val) c.4156C>G (p.Leu1386Val) | dbSNP |
| 6 | g.7583215C>T | CA448715560 | DSP | c.4624C>T (p.Leu1542=) c.5953C>T (p.Leu1985=) c.4156C>T (p.Leu1386=) | ClinVar dbSNP |
| 6 | g.7583216T>A | CA362689776 | DSP | c.4625T>A (p.Leu1542Gln) c.5954T>A (p.Leu1985Gln) c.4157T>A (p.Leu1386Gln) | |
| 6 | g.7583216T>C | CA362689778 | DSP | c.4625T>C (p.Leu1542Pro) c.5954T>C (p.Leu1985Pro) c.4157T>C (p.Leu1386Pro) | |
| 6 | g.7583216T>G | CA362689777 | DSP | c.4625T>G (p.Leu1542Arg) c.5954T>G (p.Leu1985Arg) c.4157T>G (p.Leu1386Arg) | |
| 6 | g.7583217G>A | CA448715561 | DSP | c.4626G>A (p.Leu1542=) c.5955G>A (p.Leu1985=) c.4158G>A (p.Leu1386=) | |
| 6 | g.7583217G>C | CA448715562 | DSP | c.4626G>C (p.Leu1542=) c.5955G>C (p.Leu1985=) c.4158G>C (p.Leu1386=) | |
| 6 | g.7583217G>T | CA448715563 | DSP | c.4626G>T (p.Leu1542=) c.5955G>T (p.Leu1985=) c.4158G>T (p.Leu1386=) | |
| 6 | g.7583218A>C | CA362689779 | DSP | c.4627A>C (p.Ile1543Leu) c.5956A>C (p.Ile1986Leu) c.4159A>C (p.Ile1387Leu) | |
| 6 | g.7583218A>G | CA362689780 | DSP | c.4627A>G (p.Ile1543Val) c.5956A>G (p.Ile1986Val) c.4159A>G (p.Ile1387Val) | |
| 6 | g.7583218A>T | CA362689781 | DSP | c.4627A>T (p.Ile1543Phe) c.5956A>T (p.Ile1986Phe) c.4159A>T (p.Ile1387Phe) | |
| 6 | g.7583219T>A | CA362689782 | DSP | c.4628T>A (p.Ile1543Asn) c.5957T>A (p.Ile1986Asn) c.4160T>A (p.Ile1387Asn) | |
| 6 | g.7583219T>C | CA362689783 | DSP | c.4628T>C (p.Ile1543Thr) c.5957T>C (p.Ile1986Thr) c.4160T>C (p.Ile1387Thr) | |
| 6 | g.7583219T>G | CA362689784 | DSP | c.4628T>G (p.Ile1543Ser) c.5957T>G (p.Ile1986Ser) c.4160T>G (p.Ile1387Ser) | |
| 6 | g.7583220C>A | CA448715564 | DSP | c.4629C>A (p.Ile1543=) c.5958C>A (p.Ile1986=) c.4161C>A (p.Ile1387=) | ClinVar |
| 6 | g.7583220C= | CA1608607546 | DSP | c.4629C= (p.Ile1543=) c.5958C= (p.Ile1986=) c.4161C= (p.Ile1387=) | |
| 6 | g.7583220C>G | CA046130 | DSP | c.4629C>G (p.Ile1543Met) c.5958C>G (p.Ile1986Met) c.4161C>G (p.Ile1387Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583220C>T | CA046138 | DSP | c.4629C>T (p.Ile1543=) c.5958C>T (p.Ile1986=) c.4161C>T (p.Ile1387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583221G>A | CA046150 | DSP | c.4630G>A (p.Asp1544Asn) c.5959G>A (p.Asp1987Asn) c.4162G>A (p.Asp1388Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583221G>C | CA362689785 | DSP | c.4630G>C (p.Asp1544His) c.5959G>C (p.Asp1987His) c.4162G>C (p.Asp1388His) | |
| 6 | g.7583221G= | CA1608607553 | DSP | c.4630G= (p.Asp1544=) c.5959G= (p.Asp1987=) c.4162G= (p.Asp1388=) | |
| 6 | g.7583221G>T | CA362689786 | DSP | c.4630G>T (p.Asp1544Tyr) c.5959G>T (p.Asp1987Tyr) c.4162G>T (p.Asp1388Tyr) | COSMIC |
| 6 | g.7583222A>C | CA362689789 | DSP | c.4631A>C (p.Asp1544Ala) c.5960A>C (p.Asp1987Ala) c.4163A>C (p.Asp1388Ala) | |
| 6 | g.7583222A>G | CA362689787 | DSP | c.4631A>G (p.Asp1544Gly) c.5960A>G (p.Asp1987Gly) c.4163A>G (p.Asp1388Gly) | |
| 6 | g.7583222A>T | CA362689788 | DSP | c.4631A>T (p.Asp1544Val) c.5960A>T (p.Asp1987Val) c.4163A>T (p.Asp1388Val) | |
| 6 | g.7583226_7583230del | CA2740090891 | DSP | c.4635_4639del (p.Lys1545AsnfsTer18) c.5964_5968del (p.Lys1988AsnfsTer18) c.4167_4171del (p.Lys1389AsnfsTer18) | ClinVar |
| 6 | g.7583223C>A | CA362689790 | DSP | c.4632C>A (p.Asp1544Glu) c.5961C>A (p.Asp1987Glu) c.4164C>A (p.Asp1388Glu) | |
| 6 | g.7583223C>G | CA362689791 | DSP | c.4632C>G (p.Asp1544Glu) c.5961C>G (p.Asp1987Glu) c.4164C>G (p.Asp1388Glu) | ClinVar |
| 6 | g.7583223C>T | CA448715565 | DSP | c.4632C>T (p.Asp1544=) c.5961C>T (p.Asp1987=) c.4164C>T (p.Asp1388=) | |
| 6 | g.7583224A>C | CA362689792 | DSP | c.4633A>C (p.Lys1545Gln) c.5962A>C (p.Lys1988Gln) c.4165A>C (p.Lys1389Gln) | |
| 6 | g.7583224A>G | CA362689793 | DSP | c.4633A>G (p.Lys1545Glu) c.5962A>G (p.Lys1988Glu) c.4165A>G (p.Lys1389Glu) | |
| 6 | g.7583224A>T | CA362689794 | DSP | c.4633A>T (p.Lys1545Ter) c.5962A>T (p.Lys1988Ter) c.4165A>T (p.Lys1389Ter) | |
| 6 | g.7583225A= | CA1608607554 | DSP | c.4634A= (p.Lys1545=) c.5963A= (p.Lys1988=) c.4166A= (p.Lys1389=) | |
| 6 | g.7583225A>C | CA362689795 | DSP | c.4634A>C (p.Lys1545Thr) c.5963A>C (p.Lys1988Thr) c.4166A>C (p.Lys1389Thr) | |
| 6 | g.7583225A>G | CA046168 | DSP | c.4634A>G (p.Lys1545Arg) c.5963A>G (p.Lys1988Arg) c.4166A>G (p.Lys1389Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583225A>T | CA362689796 | DSP | c.4634A>T (p.Lys1545Ile) c.5963A>T (p.Lys1988Ile) c.4166A>T (p.Lys1389Ile) | |
| 6 | g.7583226A= | CA1608607557 | DSP | c.4635A= (p.Lys1545=) c.5964A= (p.Lys1988=) c.4167A= (p.Lys1389=) | |
| 6 | g.7583226A>C | CA362689797 | DSP | c.4635A>C (p.Lys1545Asn) c.5964A>C (p.Lys1988Asn) c.4167A>C (p.Lys1389Asn) | |
| 6 | g.7583226A>G | CA046184 | DSP | c.4635A>G (p.Lys1545=) c.5964A>G (p.Lys1988=) c.4167A>G (p.Lys1389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583226A>T | CA362689798 | DSP | c.4635A>T (p.Lys1545Asn) c.5964A>T (p.Lys1988Asn) c.4167A>T (p.Lys1389Asn) | |
| 6 | g.7583227A>C | CA362689800 | DSP | c.4636A>C (p.Thr1546Pro) c.5965A>C (p.Thr1989Pro) c.4168A>C (p.Thr1390Pro) | |
| 6 | g.7583227A>G | CA362689801 | DSP | c.4636A>G (p.Thr1546Ala) c.5965A>G (p.Thr1989Ala) c.4168A>G (p.Thr1390Ala) | |
| 6 | g.7583227A>T | CA362689799 | DSP | c.4636A>T (p.Thr1546Ser) c.5965A>T (p.Thr1989Ser) c.4168A>T (p.Thr1390Ser) | |
| 6 | g.7583228C>A | CA362689802 | DSP | c.4637C>A (p.Thr1546Lys) c.5966C>A (p.Thr1989Lys) c.4169C>A (p.Thr1390Lys) | |
| 6 | g.7583228C>G | CA362689803 | DSP | c.4637C>G (p.Thr1546Arg) c.5966C>G (p.Thr1989Arg) c.4169C>G (p.Thr1390Arg) | |
| 6 | g.7583228C>T | CA362689804 | DSP | c.4637C>T (p.Thr1546Ile) c.5966C>T (p.Thr1989Ile) c.4169C>T (p.Thr1390Ile) | |
| 6 | g.7583229A>C | CA448715566 | DSP | c.4638A>C (p.Thr1546=) c.5967A>C (p.Thr1989=) c.4170A>C (p.Thr1390=) | |
| 6 | g.7583229A>G | CA448715567 | DSP | c.4638A>G (p.Thr1546=) c.5967A>G (p.Thr1989=) c.4170A>G (p.Thr1390=) | |
| 6 | g.7583229A>T | CA448715568 | DSP | c.4638A>T (p.Thr1546=) c.5967A>T (p.Thr1989=) c.4170A>T (p.Thr1390=) | |
| 6 | g.7583230A>C | CA362689805 | DSP | c.4639A>C (p.Thr1547Pro) c.5968A>C (p.Thr1990Pro) c.4171A>C (p.Thr1391Pro) | |
| 6 | g.7583230A>G | CA362689806 | DSP | c.4639A>G (p.Thr1547Ala) c.5968A>G (p.Thr1990Ala) c.4171A>G (p.Thr1391Ala) | |
| 6 | g.7583230A>T | CA362689807 | DSP | c.4639A>T (p.Thr1547Ser) c.5968A>T (p.Thr1990Ser) c.4171A>T (p.Thr1391Ser) | |
| 6 | g.7583231C>A | CA362689808 | DSP | c.4640C>A (p.Thr1547Asn) c.5969C>A (p.Thr1990Asn) c.4172C>A (p.Thr1391Asn) | |
| 6 | g.7583231C= | CA1608607566 | DSP | c.4640C= (p.Thr1547=) c.5969C= (p.Thr1990=) c.4172C= (p.Thr1391=) | |
| 6 | g.7583231C>G | CA362689809 | DSP | c.4640C>G (p.Thr1547Ser) c.5969C>G (p.Thr1990Ser) c.4172C>G (p.Thr1391Ser) | |
| 6 | g.7583231C>T | CA362689810 | DSP | c.4640C>T (p.Thr1547Ile) c.5969C>T (p.Thr1990Ile) c.4172C>T (p.Thr1391Ile) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583232C>A | CA448715570 | DSP | c.4641C>A (p.Thr1547=) c.5970C>A (p.Thr1990=) c.4173C>A (p.Thr1391=) | |
| 6 | g.7583232C= | CA1608607569 | DSP | c.4641C= (p.Thr1547=) c.5970C= (p.Thr1990=) c.4173C= (p.Thr1391=) | |
| 6 | g.7583232C>G | CA448715569 | DSP | c.4641C>G (p.Thr1547=) c.5970C>G (p.Thr1990=) c.4173C>G (p.Thr1391=) | COSMIC |
| 6 | g.7583232C>T | CA133974037 | DSP | c.4641C>T (p.Thr1547=) c.5970C>T (p.Thr1990=) c.4173C>T (p.Thr1391=) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7583233T>A | CA362689811 | DSP | c.4642T>A (p.Leu1548Met) c.5971T>A (p.Leu1991Met) c.4174T>A (p.Leu1392Met) | |
| 6 | g.7583233T>C | CA448715571 | DSP | c.4642T>C (p.Leu1548=) c.5971T>C (p.Leu1991=) c.4174T>C (p.Leu1392=) | gnomAD v4 |
| 6 | g.7583233T>G | CA362689812 | DSP | c.4642T>G (p.Leu1548Val) c.5971T>G (p.Leu1991Val) c.4174T>G (p.Leu1392Val) | |
| 6 | g.7583234T>A | CA362689813 | DSP | c.4643T>A (p.Leu1548Ter) c.5972T>A (p.Leu1991Ter) c.4175T>A (p.Leu1392Ter) | |
| 6 | g.7583234T>C | CA046258 | DSP | c.4643T>C (p.Leu1548Ser) c.5972T>C (p.Leu1991Ser) c.4175T>C (p.Leu1392Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583234T>G | CA362689814 | DSP | c.4643T>G (p.Leu1548Trp) c.5972T>G (p.Leu1991Trp) c.4175T>G (p.Leu1392Trp) | gnomAD v4 |
| 6 | g.7583234T= | CA1608607573 | DSP | c.4643T= (p.Leu1548=) c.5972T= (p.Leu1991=) c.4175T= (p.Leu1392=) | |
| 6 | g.7583235G>A | CA448715572 | DSP | c.4644G>A (p.Leu1548=) c.5973G>A (p.Leu1991=) c.4176G>A (p.Leu1392=) | |
| 6 | g.7583235G>C | CA362689815 | DSP | c.4644G>C (p.Leu1548Phe) c.5973G>C (p.Leu1991Phe) c.4176G>C (p.Leu1392Phe) | |
| 6 | g.7583235G>T | CA362689816 | DSP | c.4644G>T (p.Leu1548Phe) c.5973G>T (p.Leu1991Phe) c.4176G>T (p.Leu1392Phe) | |
| 6 | g.7583236G>A | CA362689817 | DSP | c.4645G>A (p.Asp1549Asn) c.5974G>A (p.Asp1992Asn) c.4177G>A (p.Asp1393Asn) | |
| 6 | g.7583236G>C | CA362689818 | DSP | c.4645G>C (p.Asp1549His) c.5974G>C (p.Asp1992His) c.4177G>C (p.Asp1393His) | |
| 6 | g.7583236G>T | CA362689819 | DSP | c.4645G>T (p.Asp1549Tyr) c.5974G>T (p.Asp1992Tyr) c.4177G>T (p.Asp1393Tyr) | COSMIC |
| 6 | g.7583237A>C | CA362689820 | DSP | c.4646A>C (p.Asp1549Ala) c.5975A>C (p.Asp1992Ala) c.4178A>C (p.Asp1393Ala) | |
| 6 | g.7583237A>G | CA362689821 | DSP | c.4646A>G (p.Asp1549Gly) c.5975A>G (p.Asp1992Gly) c.4178A>G (p.Asp1393Gly) | |
| 6 | g.7583237A>T | CA362689822 | DSP | c.4646A>T (p.Asp1549Val) c.5975A>T (p.Asp1992Val) c.4178A>T (p.Asp1393Val) | |
| 6 | g.7583238C>A | CA006670 | DSP | c.4647C>A (p.Asp1549Glu) c.5976C>A (p.Asp1992Glu) c.4179C>A (p.Asp1393Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583238C= | CA1608607576 | DSP | c.4647C= (p.Asp1549=) c.5976C= (p.Asp1992=) c.4179C= (p.Asp1393=) | |
| 6 | g.7583238C>G | CA362689823 | DSP | c.4647C>G (p.Asp1549Glu) c.5976C>G (p.Asp1992Glu) c.4179C>G (p.Asp1393Glu) | |
| 6 | g.7583238C>T | CA448715573 | DSP | c.4647C>T (p.Asp1549=) c.5976C>T (p.Asp1992=) c.4179C>T (p.Asp1393=) | |
| 6 | g.7583239A>C | CA362689824 | DSP | c.4648A>C (p.Lys1550Gln) c.5977A>C (p.Lys1993Gln) c.4180A>C (p.Lys1394Gln) | |
| 6 | g.7583239A>G | CA362689825 | DSP | c.4648A>G (p.Lys1550Glu) c.5977A>G (p.Lys1993Glu) c.4180A>G (p.Lys1394Glu) | |
| 6 | g.7583239A>T | CA362689826 | DSP | c.4648A>T (p.Lys1550Ter) c.5977A>T (p.Lys1993Ter) c.4180A>T (p.Lys1394Ter) | |
| 6 | g.7583240A= | CA1608607586 | DSP | c.4649A= (p.Lys1550=) c.5978A= (p.Lys1993=) c.4181A= (p.Lys1394=) | |
| 6 | g.7583240A>C | CA362689827 | DSP | c.4649A>C (p.Lys1550Thr) c.5978A>C (p.Lys1993Thr) c.4181A>C (p.Lys1394Thr) | |
| 6 | g.7583240A>G | CA362689828 | DSP | c.4649A>G (p.Lys1550Arg) c.5978A>G (p.Lys1993Arg) c.4181A>G (p.Lys1394Arg) | ClinVar dbSNP |
| 6 | g.7583240A>T | CA362689829 | DSP | c.4649A>T (p.Lys1550Ile) c.5978A>T (p.Lys1993Ile) c.4181A>T (p.Lys1394Ile) | |
| 6 | g.7583241A>C | CA362689831 | DSP | c.4650A>C (p.Lys1550Asn) c.5979A>C (p.Lys1993Asn) c.4182A>C (p.Lys1394Asn) | |
| 6 | g.7583241A>G | CA448715574 | DSP | c.4650A>G (p.Lys1550=) c.5979A>G (p.Lys1993=) c.4182A>G (p.Lys1394=) | gnomAD v4 |
| 6 | g.7583241A>T | CA362689830 | DSP | c.4650A>T (p.Lys1550Asn) c.5979A>T (p.Lys1993Asn) c.4182A>T (p.Lys1394Asn) | |
| 6 | g.7583242C>A | CA362689832 | DSP | c.4651C>A (p.Leu1551Ile) c.5980C>A (p.Leu1994Ile) c.4183C>A (p.Leu1395Ile) | |
| 6 | g.7583242C>G | CA362689833 | DSP | c.4651C>G (p.Leu1551Val) c.5980C>G (p.Leu1994Val) c.4183C>G (p.Leu1395Val) | gnomAD v4 |
| 6 | g.7583242C>T | CA448715575 | DSP | c.4651C>T (p.Leu1551=) c.5980C>T (p.Leu1994=) c.4183C>T (p.Leu1395=) | |
| 6 | g.7583243T>A | CA362689834 | DSP | c.4652T>A (p.Leu1551Gln) c.5981T>A (p.Leu1994Gln) c.4184T>A (p.Leu1395Gln) | |
| 6 | g.7583243T>C | CA362689835 | DSP | c.4652T>C (p.Leu1551Pro) c.5981T>C (p.Leu1994Pro) c.4184T>C (p.Leu1395Pro) | |
| 6 | g.7583243T>G | CA362689836 | DSP | c.4652T>G (p.Leu1551Arg) c.5981T>G (p.Leu1994Arg) c.4184T>G (p.Leu1395Arg) | |
| 6 | g.7583244A= | CA1608607590 | DSP | c.4653A= (p.Leu1551=) c.5982A= (p.Leu1994=) c.4185A= (p.Leu1395=) | |
| 6 | g.7583244A>C | CA448715576 | DSP | c.4653A>C (p.Leu1551=) c.5982A>C (p.Leu1994=) c.4185A>C (p.Leu1395=) | |
| 6 | g.7583244A>G | CA448715577 | DSP | c.4653A>G (p.Leu1551=) c.5982A>G (p.Leu1994=) c.4185A>G (p.Leu1395=) | dbSNP |
| 6 | g.7583244A>T | CA448715578 | DSP | c.4653A>T (p.Leu1551=) c.5982A>T (p.Leu1994=) c.4185A>T (p.Leu1395=) | gnomAD v4 |
| 6 | g.7583245T>A | CA362689837 | DSP | c.4654T>A (p.Leu1552Met) c.5983T>A (p.Leu1995Met) c.4186T>A (p.Leu1396Met) | |
| 6 | g.7583245T>C | CA133974048 | DSP | c.4654T>C (p.Leu1552=) c.5983T>C (p.Leu1995=) c.4186T>C (p.Leu1396=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583245T>G | CA362689838 | DSP | c.4654T>G (p.Leu1552Val) c.5983T>G (p.Leu1995Val) c.4186T>G (p.Leu1396Val) | |
| 6 | g.7583245T= | CA1608607596 | DSP | c.4654T= (p.Leu1552=) c.5983T= (p.Leu1995=) c.4186T= (p.Leu1396=) | |
| 6 | g.7583246T>A | CA362689840 | DSP | c.4655T>A (p.Leu1552Ter) c.5984T>A (p.Leu1995Ter) c.4187T>A (p.Leu1396Ter) | |
| 6 | g.7583246T>C | CA006678 | DSP | c.4655T>C (p.Leu1552Ser) c.5984T>C (p.Leu1995Ser) c.4187T>C (p.Leu1396Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583246T>G | CA362689839 | DSP | c.4655T>G (p.Leu1552Trp) c.5984T>G (p.Leu1995Trp) c.4187T>G (p.Leu1396Trp) | |
| 6 | g.7583246T= | CA1608607603 | DSP | c.4655T= (p.Leu1552=) c.5984T= (p.Leu1995=) c.4187T= (p.Leu1396=) | |
| 6 | g.7583247G>A | CA046519 | DSP | c.4656G>A (p.Leu1552=) c.5985G>A (p.Leu1995=) c.4188G>A (p.Leu1396=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583247G>C | CA362689841 | DSP | c.4656G>C (p.Leu1552Phe) c.5985G>C (p.Leu1995Phe) c.4188G>C (p.Leu1396Phe) | |
| 6 | g.7583247G= | CA1608607611 | DSP | c.4656G= (p.Leu1552=) c.5985G= (p.Leu1995=) c.4188G= (p.Leu1396=) | |
| 6 | g.7583247G>T | CA362689842 | DSP | c.4656G>T (p.Leu1552Phe) c.5985G>T (p.Leu1995Phe) c.4188G>T (p.Leu1396Phe) | |
| 6 | g.7583247_7583248delinsGA | CA1608607613 | DSP | c.4656_4657delinsGA (p.Leu1552=) c.5985_5986delinsGA (p.Leu1995=) c.4188_4189delinsGA (p.Leu1396=) | |
| 6 | g.7583248A= | CA1608607628 | DSP | c.4657A= (p.Lys1553=) c.5986A= (p.Lys1996=) c.4189A= (p.Lys1397=) | |
| 6 | g.7583248A>C | CA362689843 | DSP | c.4657A>C (p.Lys1553Gln) c.5986A>C (p.Lys1996Gln) c.4189A>C (p.Lys1397Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583248A>G | CA362689844 | DSP | c.4657A>G (p.Lys1553Glu) c.5986A>G (p.Lys1996Glu) c.4189A>G (p.Lys1397Glu) | |
| 6 | g.7583248A>T | CA362689845 | DSP | c.4657A>T (p.Lys1553Ter) c.5986A>T (p.Lys1996Ter) c.4189A>T (p.Lys1397Ter) | |
| 6 | g.7583249del | CA1139659419 | DSP | c.4658del (p.Lys1553ArgfsTer?) c.5987del (p.Lys1996ArgfsTer?) c.4190del (p.Lys1397ArgfsTer?) | ClinVar dbSNP |
| 6 | g.7583249A>C | CA362689846 | DSP | c.4658A>C (p.Lys1553Thr) c.5987A>C (p.Lys1996Thr) c.4190A>C (p.Lys1397Thr) | |
| 6 | g.7583249A>G | CA362689848 | DSP | c.4658A>G (p.Lys1553Arg) c.5987A>G (p.Lys1996Arg) c.4190A>G (p.Lys1397Arg) | |
| 6 | g.7583249A>T | CA362689847 | DSP | c.4658A>T (p.Lys1553Met) c.5987A>T (p.Lys1996Met) c.4190A>T (p.Lys1397Met) | |
| 6 | g.7583250G>A | CA448715579 | DSP | c.4659G>A (p.Lys1553=) c.5988G>A (p.Lys1996=) c.4191G>A (p.Lys1397=) | ClinVar gnomAD v4 |
| 6 | g.7583250G>C | CA362689849 | DSP | c.4659G>C (p.Lys1553Asn) c.5988G>C (p.Lys1996Asn) c.4191G>C (p.Lys1397Asn) | |
| 6 | g.7583250G>T | CA362689850 | DSP | c.4659G>T (p.Lys1553Asn) c.5988G>T (p.Lys1996Asn) c.4191G>T (p.Lys1397Asn) | |
| 6 | g.7583251G>A | CA362689851 | DSP | c.4660G>A (p.Gly1554Arg) c.5989G>A (p.Gly1997Arg) c.4192G>A (p.Gly1398Arg) | COSMIC |
| 6 | g.7583251G>C | CA362689852 | DSP | c.4660G>C (p.Gly1554Arg) c.5989G>C (p.Gly1997Arg) c.4192G>C (p.Gly1398Arg) | |
| 6 | g.7583251G>T | CA362689853 | DSP | c.4660G>T (p.Gly1554Trp) c.5989G>T (p.Gly1997Trp) c.4192G>T (p.Gly1398Trp) | |
| 6 | g.7583252G>A | CA362689854 | DSP | c.4661G>A (p.Gly1554Glu) c.5990G>A (p.Gly1997Glu) c.4193G>A (p.Gly1398Glu) | |
| 6 | g.7583252G>C | CA362689855 | DSP | c.4661G>C (p.Gly1554Ala) c.5990G>C (p.Gly1997Ala) c.4193G>C (p.Gly1398Ala) | |
| 6 | g.7583252G>T | CA362689856 | DSP | c.4661G>T (p.Gly1554Val) c.5990G>T (p.Gly1997Val) c.4193G>T (p.Gly1398Val) | COSMIC |
| 6 | g.7583261_7583273del | CA2580075528 | DSP | c.4670_4682del (p.Ser1557LeufsTer29) c.5999_6011del (p.Ser2000LeufsTer29) c.4202_4214del (p.Ser1401LeufsTer29) | ClinVar |
| 6 | g.7583253G>A | CA046563 | DSP | c.4662G>A (p.Gly1554=) c.5991G>A (p.Gly1997=) c.4194G>A (p.Gly1398=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583253G>C | CA448715583 | DSP | c.4662G>C (p.Gly1554=) c.5991G>C (p.Gly1997=) c.4194G>C (p.Gly1398=) | |
| 6 | g.7583253G= | CA1608607638 | DSP | c.4662G= (p.Gly1554=) c.5991G= (p.Gly1997=) c.4194G= (p.Gly1398=) | |
| 6 | g.7583253G>T | CA448715584 | DSP | c.4662G>T (p.Gly1554=) c.5991G>T (p.Gly1997=) c.4194G>T (p.Gly1398=) | dbSNP |
| 6 | g.7583254A>C | CA362689857 | DSP | c.4663A>C (p.Lys1555Gln) c.5992A>C (p.Lys1998Gln) c.4195A>C (p.Lys1399Gln) | |
| 6 | g.7583254A>G | CA362689858 | DSP | c.4663A>G (p.Lys1555Glu) c.5992A>G (p.Lys1998Glu) c.4195A>G (p.Lys1399Glu) | |
| 6 | g.7583254A>T | CA362689859 | DSP | c.4663A>T (p.Lys1555Ter) c.5992A>T (p.Lys1998Ter) c.4195A>T (p.Lys1399Ter) | |
| 6 | g.7583255A>C | CA362689862 | DSP | c.4664A>C (p.Lys1555Thr) c.5993A>C (p.Lys1998Thr) c.4196A>C (p.Lys1399Thr) | |
| 6 | g.7583255A>G | CA362689860 | DSP | c.4664A>G (p.Lys1555Arg) c.5993A>G (p.Lys1998Arg) c.4196A>G (p.Lys1399Arg) | |
| 6 | g.7583255A>T | CA362689861 | DSP | c.4664A>T (p.Lys1555Met) c.5993A>T (p.Lys1998Met) c.4196A>T (p.Lys1399Met) | |
| 6 | g.7583256G>A | CA448715586 | DSP | c.4665G>A (p.Lys1555=) c.5994G>A (p.Lys1998=) c.4197G>A (p.Lys1399=) | gnomAD v4 |
| 6 | g.7583256G>C | CA362689863 | DSP | c.4665G>C (p.Lys1555Asn) c.5994G>C (p.Lys1998Asn) c.4197G>C (p.Lys1399Asn) | |
| 6 | g.7583256G>T | CA362689864 | DSP | c.4665G>T (p.Lys1555Asn) c.5994G>T (p.Lys1998Asn) c.4197G>T (p.Lys1399Asn) | |
| 6 | g.7583257A>C | CA362689865 | DSP | c.4666A>C (p.Lys1556Gln) c.5995A>C (p.Lys1999Gln) c.4198A>C (p.Lys1400Gln) | |
| 6 | g.7583257A>G | CA362689866 | DSP | c.4666A>G (p.Lys1556Glu) c.5995A>G (p.Lys1999Glu) c.4198A>G (p.Lys1400Glu) | |
| 6 | g.7583257A>T | CA362689867 | DSP | c.4666A>T (p.Lys1556Ter) c.5995A>T (p.Lys1999Ter) c.4198A>T (p.Lys1400Ter) | |
| 6 | g.7583258A= | CA1608607646 | DSP | c.4667A= (p.Lys1556=) c.5996A= (p.Lys1999=) c.4199A= (p.Lys1400=) | |
| 6 | g.7583258A>C | CA362689868 | DSP | c.4667A>C (p.Lys1556Thr) c.5996A>C (p.Lys1999Thr) c.4199A>C (p.Lys1400Thr) | |
| 6 | g.7583258A>G | CA362689869 | DSP | c.4667A>G (p.Lys1556Arg) c.5996A>G (p.Lys1999Arg) c.4199A>G (p.Lys1400Arg) | dbSNP |
| 6 | g.7583258A>T | CA362689870 | DSP | c.4667A>T (p.Lys1556Met) c.5996A>T (p.Lys1999Met) c.4199A>T (p.Lys1400Met) | |
| 6 | g.7583259G>A | CA448715588 | DSP | c.4668G>A (p.Lys1556=) c.5997G>A (p.Lys1999=) c.4200G>A (p.Lys1400=) | ClinVar gnomAD v4 |
| 6 | g.7583259G>C | CA362689871 | DSP | c.4668G>C (p.Lys1556Asn) c.5997G>C (p.Lys1999Asn) c.4200G>C (p.Lys1400Asn) | |
| 6 | g.7583259G>T | CA362689872 | DSP | c.4668G>T (p.Lys1556Asn) c.5997G>T (p.Lys1999Asn) c.4200G>T (p.Lys1400Asn) | |
| 6 | g.7583260T>A | CA362689873 | DSP | c.4669T>A (p.Ser1557Thr) c.5998T>A (p.Ser2000Thr) c.4201T>A (p.Ser1401Thr) | |
| 6 | g.7583260T>C | CA362689874 | DSP | c.4669T>C (p.Ser1557Pro) c.5998T>C (p.Ser2000Pro) c.4201T>C (p.Ser1401Pro) | |
| 6 | g.7583260T>G | CA362689875 | DSP | c.4669T>G (p.Ser1557Ala) c.5998T>G (p.Ser2000Ala) c.4201T>G (p.Ser1401Ala) | |
| 6 | g.7583260_7583262delinsTCA | CA1608607650 | DSP | c.4669_4671delinsTCA (p.Ser1557=) c.5998_6000delinsTCA (p.Ser2000=) c.4201_4203delinsTCA (p.Ser1401=) | |
| 6 | g.7583261del | CA2573140815 | DSP | c.4670del (p.Ser1557Ter) c.5999del (p.Ser2000Ter) c.4202del (p.Ser1401Ter) | ClinVar dbSNP |
| 6 | g.7583261C>A | CA362689878 | DSP | c.4670C>A (p.Ser1557Ter) c.5999C>A (p.Ser2000Ter) c.4202C>A (p.Ser1401Ter) | |
| 6 | g.7583261C>G | CA362689877 | DSP | c.4670C>G (p.Ser1557Ter) c.5999C>G (p.Ser2000Ter) c.4202C>G (p.Ser1401Ter) | |
| 6 | g.7583261C>T | CA362689876 | DSP | c.4670C>T (p.Ser1557Leu) c.5999C>T (p.Ser2000Leu) c.4202C>T (p.Ser1401Leu) | gnomAD v4 |
| 6 | g.7583261_7583262delinsG | CA913203383 | DSP | c.4670_4671delinsG (p.Ser1557TrpfsTer?) c.5999_6000delinsG (p.Ser2000TrpfsTer?) c.4202_4203delinsG (p.Ser1401TrpfsTer?) | dbSNP |
| 6 | g.7583262A>C | CA448715592 | DSP | c.4671A>C (p.Ser1557=) c.6000A>C (p.Ser2000=) c.4203A>C (p.Ser1401=) | |
| 6 | g.7583262A>G | CA448715593 | DSP | c.4671A>G (p.Ser1557=) c.6000A>G (p.Ser2000=) c.4203A>G (p.Ser1401=) | |
| 6 | g.7583262A>T | CA448715594 | DSP | c.4671A>T (p.Ser1557=) c.6000A>T (p.Ser2000=) c.4203A>T (p.Ser1401=) | |
| 6 | g.7583263G>A | CA362689879 | DSP | c.4672G>A (p.Val1558Met) c.6001G>A (p.Val2001Met) c.4204G>A (p.Val1402Met) | |
| 6 | g.7583263G>C | CA362689880 | DSP | c.4672G>C (p.Val1558Leu) c.6001G>C (p.Val2001Leu) c.4204G>C (p.Val1402Leu) | |
| 6 | g.7583263G>T | CA362689881 | DSP | c.4672G>T (p.Val1558Leu) c.6001G>T (p.Val2001Leu) c.4204G>T (p.Val1402Leu) | |
| 6 | g.7583264T>A | CA133974074 | DSP | c.4673T>A (p.Val1558Glu) c.6002T>A (p.Val2001Glu) c.4205T>A (p.Val1402Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583264T>C | CA362689882 | DSP | c.4673T>C (p.Val1558Ala) c.6002T>C (p.Val2001Ala) c.4205T>C (p.Val1402Ala) | |
| 6 | g.7583264T>G | CA362689883 | DSP | c.4673T>G (p.Val1558Gly) c.6002T>G (p.Val2001Gly) c.4205T>G (p.Val1402Gly) | ClinVar |
| 6 | g.7583264T= | CA1608607653 | DSP | c.4673T= (p.Val1558=) c.6002T= (p.Val2001=) c.4205T= (p.Val1402=) | |
| 6 | g.7583265G>A | CA448715598 | DSP | c.4674G>A (p.Val1558=) c.6003G>A (p.Val2001=) c.4206G>A (p.Val1402=) | |
| 6 | g.7583265G>C | CA448715599 | DSP | c.4674G>C (p.Val1558=) c.6003G>C (p.Val2001=) c.4206G>C (p.Val1402=) | |
| 6 | g.7583265G>T | CA448715600 | DSP | c.4674G>T (p.Val1558=) c.6003G>T (p.Val2001=) c.4206G>T (p.Val1402=) | |
| 6 | g.7583266G>A | CA362689884 | DSP | c.4675G>A (p.Glu1559Lys) c.6004G>A (p.Glu2002Lys) c.4207G>A (p.Glu1403Lys) | |
| 6 | g.7583266G>C | CA362689885 | DSP | c.4675G>C (p.Glu1559Gln) c.6004G>C (p.Glu2002Gln) c.4207G>C (p.Glu1403Gln) | |
| 6 | g.7583266G>T | CA362689886 | DSP | c.4675G>T (p.Glu1559Ter) c.6004G>T (p.Glu2002Ter) c.4207G>T (p.Glu1403Ter) | |
| 6 | g.7583267A>C | CA362689887 | DSP | c.4676A>C (p.Glu1559Ala) c.6005A>C (p.Glu2002Ala) c.4208A>C (p.Glu1403Ala) | |
| 6 | g.7583267A>G | CA362689888 | DSP | c.4676A>G (p.Glu1559Gly) c.6005A>G (p.Glu2002Gly) c.4208A>G (p.Glu1403Gly) | |
| 6 | g.7583267A>T | CA362689889 | DSP | c.4676A>T (p.Glu1559Val) c.6005A>T (p.Glu2002Val) c.4208A>T (p.Glu1403Val) | |
| 6 | g.7583268A>C | CA362689890 | DSP | c.4677A>C (p.Glu1559Asp) c.6006A>C (p.Glu2002Asp) c.4209A>C (p.Glu1403Asp) | |
| 6 | g.7583268A>G | CA448715601 | DSP | c.4677A>G (p.Glu1559=) c.6006A>G (p.Glu2002=) c.4209A>G (p.Glu1403=) | |
| 6 | g.7583268A>T | CA362689891 | DSP | c.4677A>T (p.Glu1559Asp) c.6006A>T (p.Glu2002Asp) c.4209A>T (p.Glu1403Asp) | |
| 6 | g.7583269G>A | CA362689893 | DSP | c.4678G>A (p.Glu1560Lys) c.6007G>A (p.Glu2003Lys) c.4210G>A (p.Glu1404Lys) | gnomAD v4 COSMIC |
| 6 | g.7583269G>C | CA362689894 | DSP | c.4678G>C (p.Glu1560Gln) c.6007G>C (p.Glu2003Gln) c.4210G>C (p.Glu1404Gln) | |
| 6 | g.7583269G>T | CA362689892 | DSP | c.4678G>T (p.Glu1560Ter) c.6007G>T (p.Glu2003Ter) c.4210G>T (p.Glu1404Ter) | |
| 6 | g.7583270A= | CA1608607660 | DSP | c.4679A= (p.Glu1560=) c.6008A= (p.Glu2003=) c.4211A= (p.Glu1404=) | |
| 6 | g.7583270A>C | CA362689895 | DSP | c.4679A>C (p.Glu1560Ala) c.6008A>C (p.Glu2003Ala) c.4211A>C (p.Glu1404Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583270A>G | CA362689897 | DSP | c.4679A>G (p.Glu1560Gly) c.6008A>G (p.Glu2003Gly) c.4211A>G (p.Glu1404Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.7583270A>T | CA362689896 | DSP | c.4679A>T (p.Glu1560Val) c.6008A>T (p.Glu2003Val) c.4211A>T (p.Glu1404Val) | |
| 6 | g.7583271A>C | CA362689898 | DSP | c.4680A>C (p.Glu1560Asp) c.6009A>C (p.Glu2003Asp) c.4212A>C (p.Glu1404Asp) | |
| 6 | g.7583271A>G | CA448715604 | DSP | c.4680A>G (p.Glu1560=) c.6009A>G (p.Glu2003=) c.4212A>G (p.Glu1404=) | |
| 6 | g.7583271A>T | CA362689899 | DSP | c.4680A>T (p.Glu1560Asp) c.6009A>T (p.Glu2003Asp) c.4212A>T (p.Glu1404Asp) | |
| 6 | g.7583272G>A | CA362689900 | DSP | c.4681G>A (p.Val1561Ile) c.6010G>A (p.Val2004Ile) c.4213G>A (p.Val1405Ile) | |
| 6 | g.7583272G>C | CA362689901 | DSP | c.4681G>C (p.Val1561Leu) c.6010G>C (p.Val2004Leu) c.4213G>C (p.Val1405Leu) | ClinVar |
| 6 | g.7583272G= | CA1608607664 | DSP | c.4681G= (p.Val1561=) c.6010G= (p.Val2004=) c.4213G= (p.Val1405=) | |
| 6 | g.7583272G>T | CA046586 | DSP | c.4681G>T (p.Val1561Phe) c.6010G>T (p.Val2004Phe) c.4213G>T (p.Val1405Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583273T>A | CA362689902 | DSP | c.4682T>A (p.Val1561Asp) c.6011T>A (p.Val2004Asp) c.4214T>A (p.Val1405Asp) | gnomAD v4 |
| 6 | g.7583273T>C | CA362689903 | DSP | c.4682T>C (p.Val1561Ala) c.6011T>C (p.Val2004Ala) c.4214T>C (p.Val1405Ala) | ClinVar dbSNP |
| 6 | g.7583273T>G | CA362689904 | DSP | c.4682T>G (p.Val1561Gly) c.6011T>G (p.Val2004Gly) c.4214T>G (p.Val1405Gly) | |
| 6 | g.7583273T= | CA1608607672 | DSP | c.4682T= (p.Val1561=) c.6011T= (p.Val2004=) c.4214T= (p.Val1405=) | |
| 6 | g.7583274T>A | CA448715606 | DSP | c.4683T>A (p.Val1561=) c.6012T>A (p.Val2004=) c.4215T>A (p.Val1405=) | |
| 6 | g.7583274T>C | CA448715607 | DSP | c.4683T>C (p.Val1561=) c.6012T>C (p.Val2004=) c.4215T>C (p.Val1405=) | |
| 6 | g.7583274T>G | CA448715608 | DSP | c.4683T>G (p.Val1561=) c.6012T>G (p.Val2004=) c.4215T>G (p.Val1405=) | |
| 6 | g.7583275G>A | CA362689905 | DSP | c.4684G>A (p.Ala1562Thr) c.6013G>A (p.Ala2005Thr) c.4216G>A (p.Ala1406Thr) | ClinVar |
| 6 | g.7583275G>C | CA362689906 | DSP | c.4684G>C (p.Ala1562Pro) c.6013G>C (p.Ala2005Pro) c.4216G>C (p.Ala1406Pro) | ClinVar |
| 6 | g.7583275G= | CA1608607683 | DSP | c.4684G= (p.Ala1562=) c.6013G= (p.Ala2005=) c.4216G= (p.Ala1406=) | |
| 6 | g.7583275G>T | CA362689907 | DSP | c.4684G>T (p.Ala1562Ser) c.6013G>T (p.Ala2005Ser) c.4216G>T (p.Ala1406Ser) | dbSNP gnomAD v4 |
| 6 | g.7583275_7583276insAG | CA645552058 | DSP | c.4684_4685insAG (p.Ala1562GlufsTer29) c.6013_6014insAG (p.Ala2005GlufsTer29) c.4216_4217insAG (p.Ala1406GlufsTer29) | COSMIC |
| 6 | g.7583276C>A | CA362689909 | DSP | c.4685C>A (p.Ala1562Asp) c.6014C>A (p.Ala2005Asp) c.4217C>A (p.Ala1406Asp) | |
| 6 | g.7583276C= | CA1608607687 | DSP | c.4685C= (p.Ala1562=) c.6014C= (p.Ala2005=) c.4217C= (p.Ala1406=) | |
| 6 | g.7583276C>G | CA362689908 | DSP | c.4685C>G (p.Ala1562Gly) c.6014C>G (p.Ala2005Gly) c.4217C>G (p.Ala1406Gly) | gnomAD v4 |
| 6 | g.7583276C>T | CA046596 | DSP | c.4685C>T (p.Ala1562Val) c.6014C>T (p.Ala2005Val) c.4217C>T (p.Ala1406Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583277T>A | CA448715610 | DSP | c.4686T>A (p.Ala1562=) c.6015T>A (p.Ala2005=) c.4218T>A (p.Ala1406=) | |
| 6 | g.7583277T>C | CA448715611 | DSP | c.4686T>C (p.Ala1562=) c.6015T>C (p.Ala2005=) c.4218T>C (p.Ala1406=) | |
| 6 | g.7583277T>G | CA448715612 | DSP | c.4686T>G (p.Ala1562=) c.6015T>G (p.Ala2005=) c.4218T>G (p.Ala1406=) | |
| 6 | g.7583278T>A | CA362689910 | DSP | c.4687T>A (p.Ser1563Thr) c.6016T>A (p.Ser2006Thr) c.4219T>A (p.Ser1407Thr) | |
| 6 | g.7583278T>C | CA362689911 | DSP | c.4687T>C (p.Ser1563Pro) c.6016T>C (p.Ser2006Pro) c.4219T>C (p.Ser1407Pro) | |
| 6 | g.7583278T>G | CA362689912 | DSP | c.4687T>G (p.Ser1563Ala) c.6016T>G (p.Ser2006Ala) c.4219T>G (p.Ser1407Ala) | |
| 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 |