| 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.127824378G>A | CA290735 | ENG | c.514C>T (p.Leu172=) c.1060C>T (p.Leu354=) n.28C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824378G>C | CA374981499 | ENG | c.514C>G (p.Leu172Val) c.1060C>G (p.Leu354Val) n.28C>G | dbSNP |
| 9 | g.127824378G= | CA1879972626 | ENG | c.514C= (p.Leu172=) c.1060C= (p.Leu354=) n.28C= | |
| 9 | g.127824378G>T | CA374981496 | ENG | c.514C>A (p.Leu172Met) c.1060C>A (p.Leu354Met) n.28C>A | gnomAD v4 |
| 9 | g.127824378_127824409delinsCCACCAT | CA16612700 | ENG | c.483_514delinsATGGTGG (p.Thr162TrpfsTer7) c.1029_1060delinsATGGTGG (p.Thr344TrpfsTer7) | ClinVar dbSNP |
| 9 | g.127824379C>A | CA374981505 | ENG | c.513G>T (p.Glu171Asp) c.1059G>T (p.Glu353Asp) n.27G>T | |
| 9 | g.127824379C>G | CA374981507 | ENG | c.513G>C (p.Glu171Asp) c.1059G>C (p.Glu353Asp) n.27G>C | |
| 9 | g.127824379C>T | CA467230807 | ENG | c.513G>A (p.Glu171=) c.1059G>A (p.Glu353=) n.27G>A | |
| 9 | g.127824380T>A | CA374981511 | ENG | c.512A>T (p.Glu171Val) c.1058A>T (p.Glu353Val) n.26A>T | |
| 9 | g.127824380T>C | CA200312628 | ENG | c.512A>G (p.Glu171Gly) c.1058A>G (p.Glu353Gly) n.26A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824380T>G | CA374981516 | ENG | c.512A>C (p.Glu171Ala) c.1058A>C (p.Glu353Ala) n.26A>C | |
| 9 | g.127824380T= | CA1879972636 | ENG | c.512A= (p.Glu171=) c.1058A= (p.Glu353=) n.26A= | |
| 9 | g.127824381C>A | CA374981519 | ENG | c.511G>T (p.Glu171Ter) c.1057G>T (p.Glu353Ter) n.25G>T | |
| 9 | g.127824381C= | CA1879972638 | ENG | c.511G= (p.Glu171=) c.1057G= (p.Glu353=) n.25G= | |
| 9 | g.127824381C>G | CA374981521 | ENG | c.511G>C (p.Glu171Gln) c.1057G>C (p.Glu353Gln) n.25G>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824381C>T | CA374981524 | ENG | c.511G>A (p.Glu171Lys) c.1057G>A (p.Glu353Lys) n.25G>A | gnomAD v4 |
| 9 | g.127824382C>A | CA467230810 | ENG | c.510G>T (p.Pro170=) c.1056G>T (p.Pro352=) n.24G>T | |
| 9 | g.127824382C= | CA1879972642 | ENG | c.510G= (p.Pro170=) c.1056G= (p.Pro352=) n.24G= | |
| 9 | g.127824382C>G | CA467230809 | ENG | c.510G>C (p.Pro170=) c.1056G>C (p.Pro352=) n.24G>C | dbSNP COSMIC COSMIC |
| 9 | g.127824382C>T | CA5252892 | ENG | c.510G>A (p.Pro170=) c.1056G>A (p.Pro352=) n.24G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824383G>A | CA374981530 | ENG | c.509C>T (p.Pro170Leu) c.1055C>T (p.Pro352Leu) n.23C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824383G>C | CA374981534 | ENG | c.509C>G (p.Pro170Arg) c.1055C>G (p.Pro352Arg) n.23C>G | |
| 9 | g.127824383G= | CA1879972651 | ENG | c.509C= (p.Pro170=) c.1055C= (p.Pro352=) n.23C= | |
| 9 | g.127824383G>T | CA374981535 | ENG | c.509C>A (p.Pro170Gln) c.1055C>A (p.Pro352Gln) n.23C>A | |
| 9 | g.127824383_127824384delinsAA | CA645549769 | ENG | c.508_509delinsTT (p.Pro170Leu) c.1054_1055delinsTT (p.Pro352Leu) n.22_23delinsTT | COSMIC COSMIC |
| 9 | g.127824384G>A | CA374981547 | ENG | c.508C>T (p.Pro170Ser) c.1054C>T (p.Pro352Ser) n.22C>T | |
| 9 | g.127824384G>C | CA374981540 | ENG | c.508C>G (p.Pro170Ala) c.1054C>G (p.Pro352Ala) n.22C>G | |
| 9 | g.127824384G>T | CA374981545 | ENG | c.508C>A (p.Pro170Thr) c.1054C>A (p.Pro352Thr) n.22C>A | dbSNP gnomAD v4 |
| 9 | g.127824384_127824396del | CA2580079627 | ENG | c.496_508del (p.Asp166ArgfsTer7) c.1042_1054del (p.Asp348ArgfsTer7) n.10_22del | ClinVar |
| 9 | g.127824385G>A | CA467230812 | ENG | c.507C>T (p.Ser169=) c.1053C>T (p.Ser351=) n.21C>T | |
| 9 | g.127824385G>C | CA374981550 | ENG | c.507C>G (p.Ser169Arg) c.1053C>G (p.Ser351Arg) n.21C>G | |
| 9 | g.127824385G>T | CA374981552 | ENG | c.507C>A (p.Ser169Arg) c.1053C>A (p.Ser351Arg) n.21C>A | |
| 9 | g.127824386C>A | CA374981555 | ENG | c.506G>T (p.Ser169Ile) c.1052G>T (p.Ser351Ile) n.20G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.127824386C= | CA1879972659 | ENG | c.506G= (p.Ser169=) c.1052G= (p.Ser351=) n.20G= | |
| 9 | g.127824386C>G | CA374981557 | ENG | c.506G>C (p.Ser169Thr) c.1052G>C (p.Ser351Thr) n.20G>C | |
| 9 | g.127824386C>T | CA374981559 | ENG | c.506G>A (p.Ser169Asn) c.1052G>A (p.Ser351Asn) n.20G>A | dbSNP |
| 9 | g.127824386_127824387del | CA2739265074 | ENG | c.505_506del (p.Ser169ProfsTer?) c.1051_1052del (p.Ser351ProfsTer?) n.19_20del | ClinVar |
| 9 | g.127824387T>A | CA374981563 | ENG | c.505A>T (p.Ser169Cys) c.1051A>T (p.Ser351Cys) n.19A>T | |
| 9 | g.127824387T>C | CA374981573 | ENG | c.505A>G (p.Ser169Gly) c.1051A>G (p.Ser351Gly) n.19A>G | gnomAD v4 |
| 9 | g.127824387T>G | CA374981576 | ENG | c.505A>C (p.Ser169Arg) c.1051A>C (p.Ser351Arg) n.19A>C | |
| 9 | g.127824388A>C | CA374981581 | ENG | c.504T>G (p.Cys168Trp) c.1050T>G (p.Cys350Trp) n.18T>G | |
| 9 | g.127824388A>G | CA467230816 | ENG | c.504T>C (p.Cys168=) c.1050T>C (p.Cys350=) n.18T>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824388A>T | CA374981583 | ENG | c.504T>A (p.Cys168Ter) c.1050T>A (p.Cys350Ter) n.18T>A | |
| 9 | g.127824389C>A | CA374981591 | ENG | c.503G>T (p.Cys168Phe) c.1049G>T (p.Cys350Phe) n.17G>T | |
| 9 | g.127824389C>G | CA374981588 | ENG | c.503G>C (p.Cys168Ser) c.1049G>C (p.Cys350Ser) n.17G>C | |
| 9 | g.127824389C>T | CA374981586 | ENG | c.503G>A (p.Cys168Tyr) c.1049G>A (p.Cys350Tyr) n.17G>A | |
| 9 | g.127824390A>C | CA374981595 | ENG | c.502T>G (p.Cys168Gly) c.1048T>G (p.Cys350Gly) n.16T>G |