| 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.127824377_127824409delinsAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG | CA1879972619 | ENG | c.483_515delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT (p.Thr161=) c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT (p.Thr343=) | |
| 9 | g.127824378_127824409delinsCCACCAT | CA16612700 | ENG | c.483_514delinsATGGTGG (p.Thr162TrpfsTer7) c.1029_1060delinsATGGTGG (p.Thr344TrpfsTer7) | ClinVar dbSNP |
| 9 | g.127824396_127824499del | CA2580079628 | ENG | c.446-49_500del c.992-49_1046del | ClinVar |
| 9 | g.127824402G>A | CA374981658 | ENG | c.490C>T (p.Pro164Ser) c.1036C>T (p.Pro346Ser) n.4C>T | ClinVar dbSNP |
| 9 | g.127824402G>C | CA374981662 | ENG | c.490C>G (p.Pro164Ala) c.1036C>G (p.Pro346Ala) n.4C>G | |
| 9 | g.127824402G= | CA1879972690 | ENG | c.490C= (p.Pro164=) c.1036C= (p.Pro346=) n.4C= | |
| 9 | g.127824402G>T | CA374981660 | ENG | c.490C>A (p.Pro164Thr) c.1036C>A (p.Pro346Thr) n.4C>A | |
| 9 | g.127824403A>C | CA467230833 | ENG | c.489T>G (p.Pro163=) c.1035T>G (p.Pro345=) n.3T>G | |
| 9 | g.127824403A>G | CA467230834 | ENG | c.489T>C (p.Pro163=) c.1035T>C (p.Pro345=) n.3T>C | |
| 9 | g.127824403A>T | CA467230836 | ENG | c.489T>A (p.Pro163=) c.1035T>A (p.Pro345=) n.3T>A | |
| 9 | g.127824404G>A | CA374981664 | ENG | c.488C>T (p.Pro163Leu) c.1034C>T (p.Pro345Leu) n.2C>T | |
| 9 | g.127824404G>C | CA374981666 | ENG | c.488C>G (p.Pro163Arg) c.1034C>G (p.Pro345Arg) n.2C>G | |
| 9 | g.127824404G>T | CA374981668 | ENG | c.488C>A (p.Pro163His) c.1034C>A (p.Pro345His) n.2C>A | |
| 9 | g.127824405G>A | CA374981670 | ENG | c.487C>T (p.Pro163Ser) c.1033C>T (p.Pro345Ser) n.1C>T | |
| 9 | g.127824405G>C | CA374981672 | ENG | c.487C>G (p.Pro163Ala) c.1033C>G (p.Pro345Ala) n.1C>G | |
| 9 | g.127824405G>T | CA374981674 | ENG | c.487C>A (p.Pro163Thr) c.1033C>A (p.Pro345Thr) n.1C>A | gnomAD v4 COSMIC COSMIC |
| 9 | g.127824406A>C | CA467230839 | ENG | c.486T>G (p.Thr162=) c.1032T>G (p.Thr344=) | |
| 9 | g.127824406A>G | CA467230838 | ENG | c.486T>C (p.Thr162=) c.1032T>C (p.Thr344=) | |
| 9 | g.127824406A>T | CA467230837 | ENG | c.486T>A (p.Thr162=) c.1032T>A (p.Thr344=) | |
| 9 | g.127824407G>A | CA374981676 | ENG | c.485C>T (p.Thr162Ile) c.1031C>T (p.Thr344Ile) | |
| 9 | g.127824407G>C | CA374981678 | ENG | c.485C>G (p.Thr162Ser) c.1031C>G (p.Thr344Ser) | |
| 9 | g.127824407G>T | CA374981679 | ENG | c.485C>A (p.Thr162Asn) c.1031C>A (p.Thr344Asn) | |
| 9 | g.127824408T>A | CA374981680 | ENG | c.484A>T (p.Thr162Ser) c.1030A>T (p.Thr344Ser) | |
| 9 | g.127824408T>C | CA374981682 | ENG | c.484A>G (p.Thr162Ala) c.1030A>G (p.Thr344Ala) | |
| 9 | g.127824408T>G | CA374981684 | ENG | c.484A>C (p.Thr162Pro) c.1030A>C (p.Thr344Pro) | |
| 9 | g.127824408_127824409delinsGA | CA2499219637 | ENG | c.483_484delinsTC (p.Thr162Pro) c.1029_1030delinsTC (p.Thr344Pro) | ClinVar dbSNP |
| 9 | g.127824408_127824429delinsTGGTCTGGATCGGTGCGGGTGA | CA1879972697 | ENG | c.463_484delinsTCACCCGCACCGATCCAGACCA (p.Ser155=) c.1009_1030delinsTCACCCGCACCGATCCAGACCA (p.Ser337=) | |
| 9 | g.127824409G>A | CA295805 | ENG | c.483C>T (p.Thr161=) c.1029C>T (p.Thr343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824409G>C | CA467230843 | ENG | c.483C>G (p.Thr161=) c.1029C>G (p.Thr343=) | |
| 9 | g.127824409G= | CA1879972702 | ENG | c.483C= (p.Thr161=) c.1029C= (p.Thr343=) | |
| 9 | g.127824409G>T | CA467230844 | ENG | c.483C>A (p.Thr161=) c.1029C>A (p.Thr343=) | |
| 9 | g.127824415_127824435del | CA590939409 | ENG | c.463_483del (p.Ser155_Thr161del) c.1009_1029del (p.Ser337_Thr343del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824410G>A | CA374981688 | ENG | c.482C>T (p.Thr161Ile) c.1028C>T (p.Thr343Ile) | |
| 9 | g.127824410G>C | CA374981689 | ENG | c.482C>G (p.Thr161Ser) c.1028C>G (p.Thr343Ser) | |
| 9 | g.127824410G= | CA1879972709 | ENG | c.482C= (p.Thr161=) c.1028C= (p.Thr343=) | |
| 9 | g.127824410G>T | CA200312657 | ENG | c.482C>A (p.Thr161Asn) c.1028C>A (p.Thr343Asn) | dbSNP |
| 9 | g.127824411T>A | CA374981693 | ENG | c.481A>T (p.Thr161Ser) c.1027A>T (p.Thr343Ser) | |
| 9 | g.127824411T>C | CA374981694 | ENG | c.481A>G (p.Thr161Ala) c.1027A>G (p.Thr343Ala) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824411T>G | CA374981695 | ENG | c.481A>C (p.Thr161Pro) c.1027A>C (p.Thr343Pro) | |
| 9 | g.127824412C>A | CA374981698 | ENG | c.480G>T (p.Gln160His) c.1026G>T (p.Gln342His) | ClinVar dbSNP |
| 9 | g.127824412C= | CA1879972712 | ENG | c.480G= (p.Gln160=) c.1026G= (p.Gln342=) | |
| 9 | g.127824412C>G | CA374981700 | ENG | c.480G>C (p.Gln160His) c.1026G>C (p.Gln342His) | |
| 9 | g.127824412C>T | CA467230845 | ENG | c.480G>A (p.Gln160=) c.1026G>A (p.Gln342=) | |
| 9 | g.127824413T>A | CA374981702 | ENG | c.479A>T (p.Gln160Leu) c.1025A>T (p.Gln342Leu) | |
| 9 | g.127824413T>C | CA374981704 | ENG | c.479A>G (p.Gln160Arg) c.1025A>G (p.Gln342Arg) | |
| 9 | g.127824413T>G | CA374981706 | ENG | c.479A>C (p.Gln160Pro) c.1025A>C (p.Gln342Pro) | |
| 9 | g.127824413_127824423delinsTGGATCGGTGC | CA1879972713 | ENG | c.469_479delinsGCACCGATCCA (p.Ala157=) c.1015_1025delinsGCACCGATCCA (p.Ala339=) | |
| 9 | g.127824414G>A | CA374981709 | ENG | c.478C>T (p.Gln160Ter) c.1024C>T (p.Gln342Ter) | ClinVar dbSNP |