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.127825694_127825861del | CA1139661213 | ENG | c.-23-1_143+1del c.524-1_689+1del n.82+236_82+403del | ClinVar dbSNP |
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.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 |
9 | g.127825721C= | CA1879975784 | ENG | c.117G= (p.Leu39=) c.663G= (p.Leu221=) n.82+263C= | |
9 | g.127825721C>G | CA467231177 | ENG | c.117G>C (p.Leu39=) c.663G>C (p.Leu221=) n.82+263C>G | |
9 | g.127825721C>T | CA5253058 | ENG | c.117G>A (p.Leu39=) c.663G>A (p.Leu221=) n.82+263C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825722A= | CA1879975791 | ENG | c.116T= (p.Leu39=) c.662T= (p.Leu221=) n.82+264A= | |
9 | g.127825722A>C | CA374983527 | ENG | c.116T>G (p.Leu39Arg) c.662T>G (p.Leu221Arg) n.82+264A>C | ClinVar dbSNP |
9 | g.127825722A>G | CA374983528 | ENG | c.116T>C (p.Leu39Pro) c.662T>C (p.Leu221Pro) n.82+264A>G | ClinVar dbSNP |
9 | g.127825722A>T | CA374983529 | ENG | c.116T>A (p.Leu39Gln) c.662T>A (p.Leu221Gln) n.82+264A>T | |
9 | g.127825723G>A | CA467231180 | ENG | c.115C>T (p.Leu39=) c.661C>T (p.Leu221=) n.82+265G>A | gnomAD v4 |
9 | g.127825723G>C | CA374983530 | ENG | c.115C>G (p.Leu39Val) c.661C>G (p.Leu221Val) n.82+265G>C | |
9 | g.127825723G>T | CA374983531 | ENG | c.115C>A (p.Leu39Met) c.661C>A (p.Leu221Met) n.82+265G>T | gnomAD v4 |
9 | g.127825724G>A | CA5253059 | ENG | c.114C>T (p.Ile38=) c.660C>T (p.Ile220=) n.82+266G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825724G>C | CA374983532 | ENG | c.114C>G (p.Ile38Met) c.660C>G (p.Ile220Met) n.82+266G>C | |
9 | g.127825724G= | CA1879975797 | ENG | c.114C= (p.Ile38=) c.660C= (p.Ile220=) n.82+266G= | |
9 | g.127825724G>T | CA467231182 | ENG | c.114C>A (p.Ile38=) c.660C>A (p.Ile220=) n.82+266G>T | gnomAD v4 |
9 | g.127825725A= | CA1879975804 | ENG | c.113T= (p.Ile38=) c.659T= (p.Ile220=) n.82+267A= | |
9 | g.127825725A>C | CA374983533 | ENG | c.113T>G (p.Ile38Ser) c.659T>G (p.Ile220Ser) n.82+267A>C | |
9 | g.127825725A>G | CA374983535 | ENG | c.113T>C (p.Ile38Thr) c.659T>C (p.Ile220Thr) n.82+267A>G | ClinVar dbSNP gnomAD v4 |
9 | g.127825725A>T | CA374983534 | ENG | c.113T>A (p.Ile38Asn) c.659T>A (p.Ile220Asn) n.82+267A>T | |
9 | g.127825726T>A | CA374983536 | ENG | c.112A>T (p.Ile38Phe) c.658A>T (p.Ile220Phe) n.82+268T>A | |
9 | g.127825726T>C | CA374983537 | ENG | c.112A>G (p.Ile38Val) c.658A>G (p.Ile220Val) n.82+268T>C | |
9 | g.127825726T>G | CA374983538 | ENG | c.112A>C (p.Ile38Leu) c.658A>C (p.Ile220Leu) n.82+268T>G | |
9 | g.127825728_127825729del | CA2580616314 | ENG | c.111_112del (p.Ile38ProfsTer?) c.657_658del (p.Ile220ProfsTer?) n.82+270_82+271del | ClinVar dbSNP |
9 | g.127825730_127825741del | CA2695211302 | ENG | c.101_112del (p.Lys34_His37del) c.647_658del (p.Lys216_His219del) n.82+272_82+283del | |
9 | g.127825727G>A | CA467231187 | ENG | c.111C>T (p.His37=) c.657C>T (p.His219=) n.82+269G>A | gnomAD v4 |
9 | g.127825727G>C | CA374983539 | ENG | c.111C>G (p.His37Gln) c.657C>G (p.His219Gln) n.82+269G>C |