| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127823973_127830053del | CA1139661202 | ENG | c.-327-226_588+331del c.220-226_1134+331del | ClinVar |
| 9 | g.127823973_127830815del | CA1139661203 | ENG | c.-327-988_588+331del c.220-988_1134+331del | ClinVar |
| 9 | g.127824679_127826283del | CA1139661205 | ENG | c.-24+229_445+123del c.523+229_991+123del | ClinVar |
| 9 | g.127824681_127830056del | CA1139661206 | ENG | c.-327-225_445+123del c.220-225_991+123del | ClinVar |
| 9 | g.127824709_127824895delinsGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGA | CA1879973147 | ENG | c.350_445+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC c.896_991+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC | |
| 9 | g.127824710_127824895del | CA658797291 | ENG | c.350_445+90del c.896_991+90del | ClinVar dbSNP |
| 9 | g.127824797C>A | CA2691808563 | ENG | c.445+3G>T (n.445+3G>T) c.991+3G>T (n.991+3G>T) | gnomAD v4 |
| 9 | g.127824797C= | CA1879973346 | ENG | c.445+3G= (n.445+3G=) c.991+3G= (n.991+3G=) | |
| 9 | g.127824797C>T | CA5252927 | ENG | c.445+3G>A (n.445+3G>A) c.991+3G>A (n.991+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824798A= | CA1879973357 | ENG | c.445+2T= (n.445+2T=) c.991+2T= (n.991+2T=) | |
| 9 | g.127824798A>C | CA374981834 | ENG | c.445+2T>G (n.445+2T>G) c.991+2T>G (n.991+2T>G) | ClinVar dbSNP |
| 9 | g.127824798A>G | CA374981837 | ENG | c.445+2T>C (n.445+2T>C) c.991+2T>C (n.991+2T>C) | ClinVar dbSNP |
| 9 | g.127824798A>T | CA374981840 | ENG | c.445+2T>A (n.445+2T>A) c.991+2T>A (n.991+2T>A) | ClinVar |
| 9 | g.127824799C>A | CA374981851 | ENG | c.445+1G>T (n.445+1G>T) c.991+1G>T (n.991+1G>T) | gnomAD v4 |
| 9 | g.127824799C>G | CA374981852 | ENG | c.445+1G>C (n.445+1G>C) c.991+1G>C (n.991+1G>C) | ClinVar |
| 9 | g.127824799C>T | CA374981854 | ENG | c.445+1G>A (n.445+1G>A) c.991+1G>A (n.991+1G>A) | |
| 9 | g.127824800del | CA2739265075 | ENG | c.445+1del c.991+1del | ClinVar |
| 9 | g.127824800C>A | CA374981858 | ENG | c.445G>T (p.Gly149Cys) c.991G>T (p.Gly331Cys) | gnomAD v4 |
| 9 | g.127824800C= | CA1879973363 | ENG | c.445G= (p.Gly149=) c.991G= (p.Gly331=) | |
| 9 | g.127824800C>G | CA374981859 | ENG | c.445G>C (p.Gly149Arg) c.991G>C (p.Gly331Arg) | |
| 9 | g.127824800C>T | CA16612528 | ENG | c.445G>A (p.Gly149Ser) c.991G>A (p.Gly331Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.127824801del | CA2695211246 | ENG | c.444del (p.Cys148TrpfsTer29) c.990del (p.Cys330TrpfsTer29) | |
| 9 | g.127824801G>A | CA5252928 | ENG | c.444C>T (p.Cys148=) c.990C>T (p.Cys330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824801G>C | CA374981862 | ENG | c.444C>G (p.Cys148Trp) c.990C>G (p.Cys330Trp) | |
| 9 | g.127824801G= | CA1879973371 | ENG | c.444C= (p.Cys148=) c.990C= (p.Cys330=) | |
| 9 | g.127824801G>T | CA374981863 | ENG | c.444C>A (p.Cys148Ter) c.990C>A (p.Cys330Ter) | ClinVar |
| 9 | g.127824802C>A | CA374981865 | ENG | c.443G>T (p.Cys148Phe) c.989G>T (p.Cys330Phe) | ClinVar |
| 9 | g.127824802C>G | CA374981872 | ENG | c.443G>C (p.Cys148Ser) c.989G>C (p.Cys330Ser) | |
| 9 | g.127824802C>T | CA374981876 | ENG | c.443G>A (p.Cys148Tyr) c.989G>A (p.Cys330Tyr) | gnomAD v4 |
| 9 | g.127824803A>C | CA374981880 | ENG | c.442T>G (p.Cys148Gly) c.988T>G (p.Cys330Gly) | |
| 9 | g.127824803A>G | CA374981878 | ENG | c.442T>C (p.Cys148Arg) c.988T>C (p.Cys330Arg) | gnomAD v4 |
| 9 | g.127824803A>T | CA374981879 | ENG | c.442T>A (p.Cys148Ser) c.988T>A (p.Cys330Ser) | |
| 9 | g.127824804G>A | CA467230892 | ENG | c.441C>T (p.Ser147=) c.987C>T (p.Ser329=) | |
| 9 | g.127824804G>C | CA374981881 | ENG | c.441C>G (p.Ser147Arg) c.987C>G (p.Ser329Arg) | |
| 9 | g.127824804G>T | CA374981882 | ENG | c.441C>A (p.Ser147Arg) c.987C>A (p.Ser329Arg) | |
| 9 | g.127824805C>A | CA374981884 | ENG | c.440G>T (p.Ser147Ile) c.986G>T (p.Ser329Ile) | gnomAD v4 |
| 9 | g.127824805C>G | CA374981886 | ENG | c.440G>C (p.Ser147Thr) c.986G>C (p.Ser329Thr) | |
| 9 | g.127824805C>T | CA374981887 | ENG | c.440G>A (p.Ser147Asn) c.986G>A (p.Ser329Asn) | |
| 9 | g.127824806T>A | CA374981908 | ENG | c.439A>T (p.Ser147Cys) c.985A>T (p.Ser329Cys) | ClinVar dbSNP |
| 9 | g.127824806T>C | CA374981915 | ENG | c.439A>G (p.Ser147Gly) c.985A>G (p.Ser329Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824806T>G | CA374981910 | ENG | c.439A>C (p.Ser147Arg) c.985A>C (p.Ser329Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824806T= | CA1879973377 | ENG | c.439A= (p.Ser147=) c.985A= (p.Ser329=) | |
| 9 | g.127824807G>A | CA467230893 | ENG | c.438C>T (p.Ser146=) c.984C>T (p.Ser328=) | |
| 9 | g.127824807G>C | CA467230894 | ENG | c.438C>G (p.Ser146=) c.984C>G (p.Ser328=) | |
| 9 | g.127824807G>T | CA467230895 | ENG | c.438C>A (p.Ser146=) c.984C>A (p.Ser328=) | |
| 9 | g.127824807_127824808delinsCT | CA915947173 | ENG | c.437_438delinsAG (p.Ser146Ter) c.983_984delinsAG (p.Ser328Ter) | ClinVar dbSNP |
| 9 | g.127824807_127824808delinsGG | CA1879973390 | ENG | c.437_438delinsCC (p.Ser146=) c.983_984delinsCC (p.Ser328=) | |
| 9 | g.127824808G>A | CA374981918 | ENG | c.437C>T (p.Ser146Phe) c.983C>T (p.Ser328Phe) | |
| 9 | g.127824808G>C | CA374981921 | ENG | c.437C>G (p.Ser146Cys) c.983C>G (p.Ser328Cys) | |
| 9 | g.127824808G>T | CA374981924 | ENG | c.437C>A (p.Ser146Tyr) c.983C>A (p.Ser328Tyr) |