| 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.127825693_127825861delinsACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGC | CA1879975624 | ENG | c.-23-1_143+2delinsGCCCAGGGGTCACTGTCCTTCTGCATGCTGGAAGCCAGCCAGGACATGGGCCGCACGCTCGAGTGGCGGCCGCGTACTCCAGCCTTGGTCCGGGGCTGCCACTTGGAAGGCGTGGCCGGCCACAAGGAGGCGCACATCCTGAGGGTCCTGCCGGGCCACTCGGCCGGGT c.524-1_689+2delinsGCCCAGGGGTCACTGTCCTTCTGCATGCTGGAAGCCAGCCAGGACATGGGCCGCACGCTCGAGTGGCGGCCGCGTACTCCAGCCTTGGTCCGGGGCTGCCACTTGGAAGGCGTGGCCGGCCACAAGGAGGCGCACATCCTGAGGGTCCTGCCGGGCCACTCGGCCGGGT n.82+235_82+403delinsACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGC | |
| 9 | g.127825700_127825712del | CA2580610825 | ENG | c.132_143+1del c.678_689+1del n.82+242_82+254del | |
| 9 | g.127825694_127825861del | CA1139661213 | ENG | c.-23-1_143+1del c.524-1_689+1del n.82+236_82+403del | ClinVar dbSNP |
| 9 | g.127825698_127825716delinsGCCGAGTGGCCCGGCAGGA | CA1879975661 | ENG | c.122_140delinsTCCTGCCGGGCCACTCGGC (p.Val41=) c.668_686delinsTCCTGCCGGGCCACTCGGC (p.Val223=) n.82+240_82+258delinsGCCGAGTGGCCCGGCAGGA | |
| 9 | g.127825701_127825718del | CA1879975668 | ENG | c.122_139del (p.Val41_Ser46del) c.668_685del (p.Val223_Ser228del) n.82+243_82+260del | ClinVar dbSNP |
| 9 | g.127825711dup | CA2580079679 | ENG | c.128dup (p.His45ProfsTer?) c.674dup (p.His227ProfsTer?) n.82+253dup | ClinVar |
| 9 | g.127825711del | CA1139661214 | ENG | c.128del (p.Pro43ArgfsTer10) c.674del (p.Pro225ArgfsTer10) n.82+253del | ClinVar dbSNP |
| 9 | g.127825711G>A | CA374983507 | ENG | c.127C>T (p.Pro43Ser) c.673C>T (p.Pro225Ser) n.82+253G>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.127825711G>C | CA374983508 | ENG | c.127C>G (p.Pro43Ala) c.673C>G (p.Pro225Ala) n.82+253G>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.127825711G= | CA1879975744 | ENG | c.127C= (p.Pro43=) c.673C= (p.Pro225=) n.82+253G= | |
| 9 | g.127825711G>T | CA374983509 | ENG | c.127C>A (p.Pro43Thr) c.673C>A (p.Pro225Thr) n.82+253G>T | ClinVar gnomAD v4 |
| 9 | g.127825712C>A | CA467231147 | ENG | c.126G>T (p.Leu42=) c.672G>T (p.Leu224=) n.82+254C>A | gnomAD v4 |
| 9 | g.127825712C= | CA1879975749 | ENG | c.126G= (p.Leu42=) c.672G= (p.Leu224=) n.82+254C= | |
| 9 | g.127825712C>G | CA5253055 | ENG | c.126G>C (p.Leu42=) c.672G>C (p.Leu224=) n.82+254C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127825712C>T | CA467231150 | ENG | c.126G>A (p.Leu42=) c.672G>A (p.Leu224=) n.82+254C>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.127825713A= | CA1879975753 | ENG | c.125T= (p.Leu42=) c.671T= (p.Leu224=) n.82+255A= | |
| 9 | g.127825713A>C | CA374983510 | ENG | c.125T>G (p.Leu42Arg) c.671T>G (p.Leu224Arg) n.82+255A>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127825713A>G | CA374983511 | ENG | c.125T>C (p.Leu42Pro) c.671T>C (p.Leu224Pro) n.82+255A>G | gnomAD v4 |
| 9 | g.127825713A>T | CA374983512 | ENG | c.125T>A (p.Leu42Gln) c.671T>A (p.Leu224Gln) n.82+255A>T | |
| 9 | g.127825714G>A | CA467231151 | ENG | c.124C>T (p.Leu42=) c.670C>T (p.Leu224=) n.82+256G>A | |
| 9 | g.127825714G>C | CA374983513 | ENG | c.124C>G (p.Leu42Val) c.670C>G (p.Leu224Val) n.82+256G>C | |
| 9 | g.127825714G>T | CA374983514 | ENG | c.124C>A (p.Leu42Met) c.670C>A (p.Leu224Met) n.82+256G>T | gnomAD v4 |
| 9 | g.127825715G>A | CA467231157 | ENG | c.123C>T (p.Val41=) c.669C>T (p.Val223=) n.82+257G>A | |
| 9 | g.127825715G>C | CA467231159 | ENG | c.123C>G (p.Val41=) c.669C>G (p.Val223=) n.82+257G>C | |
| 9 | g.127825715G>T | CA467231163 | ENG | c.123C>A (p.Val41=) c.669C>A (p.Val223=) n.82+257G>T | gnomAD v4 |
| 9 | g.127825716A>C | CA374983515 | ENG | c.122T>G (p.Val41Gly) c.668T>G (p.Val223Gly) n.82+258A>C | |
| 9 | g.127825716A>G | CA374983516 | ENG | c.122T>C (p.Val41Ala) c.668T>C (p.Val223Ala) n.82+258A>G | |
| 9 | g.127825716A>T | CA374983517 | ENG | c.122T>A (p.Val41Asp) c.668T>A (p.Val223Asp) n.82+258A>T | |
| 9 | g.127825716_127825717delinsAC | CA1879975761 | ENG | c.121_122delinsGT (p.Val41=) c.667_668delinsGT (p.Val223=) n.82+258_82+259delinsAC | |
| 9 | g.127825717C>A | CA374983520 | ENG | c.121G>T (p.Val41Phe) c.667G>T (p.Val223Phe) n.82+259C>A | |
| 9 | g.127825717C>G | CA374983519 | ENG | c.121G>C (p.Val41Leu) c.667G>C (p.Val223Leu) n.82+259C>G | |
| 9 | g.127825717C>T | CA374983518 | ENG | c.121G>A (p.Val41Ile) c.667G>A (p.Val223Ile) n.82+259C>T | gnomAD v4 |
| 9 | g.127825719dup | CA1139661215 | ENG | c.121dup (p.Val41GlyfsTer?) c.667dup (p.Val223GlyfsTer?) n.82+261dup | ClinVar dbSNP |
| 9 | g.127825719del | CA915947182 | ENG | c.121del (p.Val41SerfsTer12) c.667del (p.Val223SerfsTer12) n.82+261del | ClinVar dbSNP |
| 9 | g.127825718C>A | CA374983521 | ENG | c.120G>T (p.Arg40Ser) c.666G>T (p.Arg222Ser) n.82+260C>A | gnomAD v4 |
| 9 | g.127825718C= | CA1879975776 | ENG | c.120G= (p.Arg40=) c.666G= (p.Arg222=) n.82+260C= | |
| 9 | g.127825718C>G | CA374983522 | ENG | c.120G>C (p.Arg40Ser) c.666G>C (p.Arg222Ser) n.82+260C>G | |
| 9 | g.127825718C>T | CA5253056 | ENG | c.120G>A (p.Arg40=) c.666G>A (p.Arg222=) n.82+260C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127825719C>A | CA374983523 | ENG | c.119G>T (p.Arg40Met) c.665G>T (p.Arg222Met) n.82+261C>A | |
| 9 | g.127825719C= | CA1879975779 | ENG | c.119G= (p.Arg40=) c.665G= (p.Arg222=) n.82+261C= | |
| 9 | g.127825719C>G | CA374983524 | ENG | c.119G>C (p.Arg40Thr) c.665G>C (p.Arg222Thr) n.82+261C>G | |
| 9 | g.127825719C>T | CA5253057 | ENG | c.119G>A (p.Arg40Lys) c.665G>A (p.Arg222Lys) n.82+261C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127825720T>A | CA374983525 | ENG | c.118A>T (p.Arg40Trp) c.664A>T (p.Arg222Trp) n.82+262T>A | |
| 9 | g.127825720T>C | CA374983526 | ENG | c.118A>G (p.Arg40Gly) c.664A>G (p.Arg222Gly) n.82+262T>C | gnomAD v4 |
| 9 | g.127825720T>G | CA467231176 | ENG | c.118A>C (p.Arg40=) c.664A>C (p.Arg222=) n.82+262T>G | |
| 9 | g.127825721C>A | CA467231178 | ENG | c.117G>T (p.Leu39=) c.663G>T (p.Leu221=) n.82+263C>A | gnomAD v4 |