| 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.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 |
| 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 |