| 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.127824700A>T | CA2579461264 | ENG | c.445+100T>A (n.445+100T>A) c.991+100T>A (n.991+100T>A) | |
| 9 | g.127824701T>C | CA860196676 | ENG | c.445+99A>G (n.445+99A>G) c.991+99A>G (n.991+99A>G) | dbSNP gnomAD v4 |
| 9 | g.127824701T>G | CA1879973143 | ENG | c.445+99A>C (n.445+99A>C) c.991+99A>C (n.991+99A>C) | dbSNP |
| 9 | g.127824701T= | CA1879973141 | ENG | c.445+99A= (n.445+99A=) c.991+99A= (n.991+99A=) | |
| 9 | g.127824702G>A | CA2691808410 | ENG | c.445+98C>T (n.445+98C>T) c.991+98C>T (n.991+98C>T) | gnomAD v4 |
| 9 | g.127824703T>C | CA2579461265 | ENG | c.445+97A>G (n.445+97A>G) c.991+97A>G (n.991+97A>G) | gnomAD v4 |
| 9 | g.127824704A>G | CA2579461266 | ENG | c.445+96T>C (n.445+96T>C) c.991+96T>C (n.991+96T>C) | gnomAD v4 |
| 9 | g.127824705C>A | CA590939440 | ENG | c.445+95G>T (n.445+95G>T) c.991+95G>T (n.991+95G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824705C= | CA1879973144 | ENG | c.445+95G= (n.445+95G=) c.991+95G= (n.991+95G=) | |
| 9 | g.127824705C>T | CA860196677 | ENG | c.445+95G>A (n.445+95G>A) c.991+95G>A (n.991+95G>A) | dbSNP gnomAD v4 |
| 9 | g.127824706C>A | CA2691808411 | ENG | c.445+94G>T (n.445+94G>T) c.991+94G>T (n.991+94G>T) | gnomAD v4 |
| 9 | g.127824706_127824713del | CA2579461267 | ENG | c.445+87_445+94del (n.445+87_445+94del) c.991+87_991+94del (n.991+87_991+94del) | |
| 9 | g.127824708T>C | CA2691808412 | ENG | c.445+92A>G (n.445+92A>G) c.991+92A>G (n.991+92A>G) | gnomAD v4 |
| 9 | g.127824709G>T | CA2691808413 | ENG | c.445+91C>A (n.445+91C>A) c.991+91C>A (n.991+91C>A) | gnomAD v4 |
| 9 | g.127824709_127824895delinsGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGA | CA1879973147 | ENG | c.350_445+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC c.896_991+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC | |
| 9 | g.127824710C>A | CA2691808414 | ENG | c.445+90G>T (n.445+90G>T) c.991+90G>T (n.991+90G>T) | gnomAD v4 |
| 9 | g.127824710C= | CA1879973148 | ENG | c.445+90G= (n.445+90G=) c.991+90G= (n.991+90G=) | |
| 9 | g.127824710C>T | CA1879973149 | ENG | c.445+90G>A (n.445+90G>A) c.991+90G>A (n.991+90G>A) | dbSNP |
| 9 | g.127824710_127824895del | CA658797291 | ENG | c.350_445+90del c.896_991+90del | ClinVar dbSNP |
| 9 | g.127824711C>T | CA2691808415 | ENG | c.445+89G>A (n.445+89G>A) c.991+89G>A (n.991+89G>A) | gnomAD v4 |
| 9 | g.127824712C= | CA1879973151 | ENG | c.445+88G= (n.445+88G=) c.991+88G= (n.991+88G=) | |
| 9 | g.127824712C>G | CA860196688 | ENG | c.445+88G>C (n.445+88G>C) c.991+88G>C (n.991+88G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824713A>T | CA2691808416 | ENG | c.445+87T>A (n.445+87T>A) c.991+87T>A (n.991+87T>A) | gnomAD v4 |
| 9 | g.127824714A= | CA1879973157 | ENG | c.445+86T= (n.445+86T=) c.991+86T= (n.991+86T=) | |
| 9 | g.127824714A>C | CA200312864 | ENG | c.445+86T>G (n.445+86T>G) c.991+86T>G (n.991+86T>G) | dbSNP gnomAD v4 |
| 9 | g.127824714A>G | CA200312866 | ENG | c.445+86T>C (n.445+86T>C) c.991+86T>C (n.991+86T>C) | dbSNP gnomAD v4 |
| 9 | g.127824714_127824715insT | CA653542272 | ENG | c.445+85_445+86insA (n.445+85_445+86insA) c.991+85_991+86insA (n.991+85_991+86insA) | COSMIC |
| 9 | g.127824715G>A | CA590939441 | ENG | c.445+85C>T (n.445+85C>T) c.991+85C>T (n.991+85C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824715G= | CA1879973162 | ENG | c.445+85C= (n.445+85C=) c.991+85C= (n.991+85C=) | |
| 9 | g.127824715G>T | CA2691808417 | ENG | c.445+85C>A (n.445+85C>A) c.991+85C>A (n.991+85C>A) | gnomAD v4 |
| 9 | g.127824720C>A | CA2691808418 | ENG | c.445+80G>T (n.445+80G>T) c.991+80G>T (n.991+80G>T) | gnomAD v4 |
| 9 | g.127824720C>T | CA2579461268 | ENG | c.445+80G>A (n.445+80G>A) c.991+80G>A (n.991+80G>A) | gnomAD v4 |
| 9 | g.127824722C>A | CA2691808419 | ENG | c.445+78G>T (n.445+78G>T) c.991+78G>T (n.991+78G>T) | gnomAD v4 |
| 9 | g.127824722C= | CA1879973165 | ENG | c.445+78G= (n.445+78G=) c.991+78G= (n.991+78G=) | |
| 9 | g.127824722C>G | CA2691808420 | ENG | c.445+78G>C (n.445+78G>C) c.991+78G>C (n.991+78G>C) | gnomAD v4 |
| 9 | g.127824722C>T | CA200312874 | ENG | c.445+78G>A (n.445+78G>A) c.991+78G>A (n.991+78G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824723dup | CA200312877 | ENG | c.445+77dup (n.445+77dup) c.991+77dup (n.991+77dup) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824724G>C | CA2691808421 | ENG | c.445+76C>G (n.445+76C>G) c.991+76C>G (n.991+76C>G) | gnomAD v4 |
| 9 | g.127824724G>T | CA2691808422 | ENG | c.445+76C>A (n.445+76C>A) c.991+76C>A (n.991+76C>A) | gnomAD v4 |
| 9 | g.127824726G>A | CA2691808423 | ENG | c.445+74C>T (n.445+74C>T) c.991+74C>T (n.991+74C>T) | gnomAD v4 |
| 9 | g.127824726G>T | CA2691808424 | ENG | c.445+74C>A (n.445+74C>A) c.991+74C>A (n.991+74C>A) | gnomAD v4 |
| 9 | g.127824727G= | CA1879973173 | ENG | c.445+73C= (n.445+73C=) c.991+73C= (n.991+73C=) | |
| 9 | g.127824727G>T | CA200312880 | ENG | c.445+73C>A (n.445+73C>A) c.991+73C>A (n.991+73C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824728T>C | CA2691808425 | ENG | c.445+72A>G (n.445+72A>G) c.991+72A>G (n.991+72A>G) | gnomAD v4 |
| 9 | g.127824728T>G | CA1879973179 | ENG | c.445+72A>C (n.445+72A>C) c.991+72A>C (n.991+72A>C) | dbSNP gnomAD v4 |
| 9 | g.127824728T= | CA1879973178 | ENG | c.445+72A= (n.445+72A=) c.991+72A= (n.991+72A=) |