| 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.127824872_127824910del | CA913184987 | ENG | c.336_374del (p.Thr113_Asn125del) c.882_920del (p.Thr295_Asn307del) | ClinVar dbSNP |
| 9 | g.127824887C>A | CA16612407 | ENG | c.358G>T (p.Glu120Ter) c.904G>T (p.Glu302Ter) | ClinVar dbSNP |
| 9 | g.127824887C= | CA1879973617 | ENG | c.358G= (p.Glu120=) c.904G= (p.Glu302=) | |
| 9 | g.127824887C>G | CA374982420 | ENG | c.358G>C (p.Glu120Gln) c.904G>C (p.Glu302Gln) | |
| 9 | g.127824887C>T | CA374982422 | ENG | c.358G>A (p.Glu120Lys) c.904G>A (p.Glu302Lys) | |
| 9 | g.127824891dup | CA658656033 | ENG | c.358dup (p.Glu120GlyfsTer?) c.904dup (p.Glu302GlyfsTer?) | ClinVar dbSNP |
| 9 | g.127824890_127824891dup | CA2580617564 | ENG | c.357_358dup (p.Glu120GlyfsTer?) c.903_904dup (p.Glu302GlyfsTer?) | |
| 9 | g.127824891del | CA2691808696 | ENG | c.358del (p.Glu120ArgfsTer?) c.904del (p.Glu302ArgfsTer?) | gnomAD v4 |
| 9 | g.127824888C>A | CA467474576 | ENG | c.357G>T (p.Gly119=) c.903G>T (p.Gly301=) | |
| 9 | g.127824888C>G | CA467474575 | ENG | c.357G>C (p.Gly119=) c.903G>C (p.Gly301=) | |
| 9 | g.127824888C>T | CA467474574 | ENG | c.357G>A (p.Gly119=) c.903G>A (p.Gly301=) | |
| 9 | g.127824889C>A | CA374982425 | ENG | c.356G>T (p.Gly119Val) c.902G>T (p.Gly301Val) | |
| 9 | g.127824889C= | CA1879973622 | ENG | c.356G= (p.Gly119=) c.902G= (p.Gly301=) | |
| 9 | g.127824889C>G | CA374982428 | ENG | c.356G>C (p.Gly119Ala) c.902G>C (p.Gly301Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824889C>T | CA374982432 | ENG | c.356G>A (p.Gly119Glu) c.902G>A (p.Gly301Glu) | |
| 9 | g.127824889_127824892delinsCCCA | CA1879973623 | ENG | c.353_356delinsTGGG (p.Leu118=) c.899_902delinsTGGG (p.Leu300=) | |
| 9 | g.127824890C>A | CA374982435 | ENG | c.355G>T (p.Gly119Trp) c.901G>T (p.Gly301Trp) | |
| 9 | g.127824890C= | CA1879973630 | ENG | c.355G= (p.Gly119=) c.901G= (p.Gly301=) | |
| 9 | g.127824890C>G | CA374982438 | ENG | c.355G>C (p.Gly119Arg) c.901G>C (p.Gly301Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824890C>T | CA374982440 | ENG | c.355G>A (p.Gly119Arg) c.901G>A (p.Gly301Arg) | gnomAD v4 |
| 9 | g.127824890_127824892delinsG | CA1139661208 | ENG | c.353_355delinsC (p.Leu118ProfsTer?) c.899_901delinsC (p.Leu300ProfsTer?) | ClinVar dbSNP |
| 9 | g.127824891C>A | CA5252945 | ENG | c.354G>T (p.Leu118=) c.900G>T (p.Leu300=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824891C= | CA1879973645 | ENG | c.354G= (p.Leu118=) c.900G= (p.Leu300=) | |
| 9 | g.127824891C>G | CA467474578 | ENG | c.354G>C (p.Leu118=) c.900G>C (p.Leu300=) | |
| 9 | g.127824891C>T | CA5252944 | ENG | c.354G>A (p.Leu118=) c.900G>A (p.Leu300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824892A= | CA1879973653 | ENG | c.353T= (p.Leu118=) c.899T= (p.Leu300=) | |
| 9 | g.127824892A>C | CA374982449 | ENG | c.353T>G (p.Leu118Arg) c.899T>G (p.Leu300Arg) | dbSNP |
| 9 | g.127824892A>G | CA374982452 | ENG | c.353T>C (p.Leu118Pro) c.899T>C (p.Leu300Pro) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824892A>T | CA374982455 | ENG | c.353T>A (p.Leu118Gln) c.899T>A (p.Leu300Gln) | |
| 9 | g.127824893G>A | CA467474580 | ENG | c.352C>T (p.Leu118=) c.898C>T (p.Leu300=) | COSMIC COSMIC |
| 9 | g.127824893G>C | CA374982459 | ENG | c.352C>G (p.Leu118Val) c.898C>G (p.Leu300Val) | |
| 9 | g.127824893G>T | CA374982463 | ENG | c.352C>A (p.Leu118Met) c.898C>A (p.Leu300Met) | |
| 9 | g.127824894G>A | CA467474582 | ENG | c.351C>T (p.Leu117=) c.897C>T (p.Leu299=) | |
| 9 | g.127824894G>C | CA467474586 | ENG | c.351C>G (p.Leu117=) c.897C>G (p.Leu299=) | |
| 9 | g.127824894G>T | CA467474583 | ENG | c.351C>A (p.Leu117=) c.897C>A (p.Leu299=) | |
| 9 | g.127824895A= | CA1879973663 | ENG | c.350T= (p.Leu117=) c.896T= (p.Leu299=) | |
| 9 | g.127824895A>C | CA374982466 | ENG | c.350T>G (p.Leu117Arg) c.896T>G (p.Leu299Arg) | ClinVar dbSNP |
| 9 | g.127824895A>G | CA374982467 | ENG | c.350T>C (p.Leu117Pro) c.896T>C (p.Leu299Pro) | gnomAD v4 |
| 9 | g.127824895A>T | CA374982470 | ENG | c.350T>A (p.Leu117His) c.896T>A (p.Leu299His) | |
| 9 | g.127824895_127824896delinsAG | CA1879973661 | ENG | c.349_350delinsCT (p.Leu117=) c.895_896delinsCT (p.Leu299=) | |
| 9 | g.127824896G>A | CA374982477 | ENG | c.349C>T (p.Leu117Phe) c.895C>T (p.Leu299Phe) | |
| 9 | g.127824896G>C | CA374982480 | ENG | c.349C>G (p.Leu117Val) c.895C>G (p.Leu299Val) | ClinVar |
| 9 | g.127824896G>T | CA374982490 | ENG | c.349C>A (p.Leu117Ile) c.895C>A (p.Leu299Ile) | |
| 9 | g.127824897del | CA16618748 | ENG | c.349del (p.Leu117SerfsTer?) c.895del (p.Leu299SerfsTer?) | ClinVar dbSNP |