| 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.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 | 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 | |
| 9 | g.127825727G>T | CA374983540 | ENG | c.111C>A (p.His37Gln) c.657C>A (p.His219Gln) n.82+269G>T | gnomAD v4 |
| 9 | g.127825728T>A | CA374983541 | ENG | c.110A>T (p.His37Leu) c.656A>T (p.His219Leu) n.82+270T>A | |
| 9 | g.127825728T>C | CA374983542 | ENG | c.110A>G (p.His37Arg) c.656A>G (p.His219Arg) n.82+270T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127825728T>G | CA374983543 | ENG | c.110A>C (p.His37Pro) c.656A>C (p.His219Pro) n.82+270T>G | |
| 9 | g.127825728T= | CA1879975807 | ENG | c.110A= (p.His37=) c.656A= (p.His219=) n.82+270T= | |
| 9 | g.127825729G>A | CA374983544 | ENG | c.109C>T (p.His37Tyr) c.655C>T (p.His219Tyr) n.82+271G>A | |
| 9 | g.127825729G>C | CA374983545 | ENG | c.109C>G (p.His37Asp) c.655C>G (p.His219Asp) n.82+271G>C | |
| 9 | g.127825729G>T | CA374983546 | ENG | c.109C>A (p.His37Asn) c.655C>A (p.His219Asn) n.82+271G>T | gnomAD v4 |
| 9 | g.127825731_127825732del | CA2580616315 | ENG | c.108_109del (p.Ile38ProfsTer?) c.654_655del (p.Ile220ProfsTer?) n.82+273_82+274del | dbSNP |
| 9 | g.127825729_127825748dup | CA2695211303 | ENG | c.90_109dup (p.His37ArgfsTer10) c.636_655dup (p.His219ArgfsTer10) n.82+271_82+290dup | |
| 9 | g.127825730C>A | CA467231200 | ENG | c.108G>T (p.Ala36=) c.654G>T (p.Ala218=) n.82+272C>A | gnomAD v4 |
| 9 | g.127825730C= | CA1879975809 | ENG | c.108G= (p.Ala36=) c.654G= (p.Ala218=) n.82+272C= | |
| 9 | g.127825730C>G | CA467231199 | ENG | c.108G>C (p.Ala36=) c.654G>C (p.Ala218=) n.82+272C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127825730C>T | CA5253060 | ENG | c.108G>A (p.Ala36=) c.654G>A (p.Ala218=) n.82+272C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127825735_127825754del | CA2580079680 | ENG | c.89_108del (p.Val30AlafsTer?) c.635_654del (p.Val212AlafsTer?) n.82+277_82+296del | ClinVar |
| 9 | g.127825731G>A | CA374983549 | ENG | c.107C>T (p.Ala36Val) c.653C>T (p.Ala218Val) n.82+273G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127825731G>C | CA374983547 | ENG | c.107C>G (p.Ala36Gly) c.653C>G (p.Ala218Gly) n.82+273G>C | |
| 9 | g.127825731G= | CA1879975814 | ENG | c.107C= (p.Ala36=) c.653C= (p.Ala218=) n.82+273G= | |
| 9 | g.127825731G>T | CA374983548 | ENG | c.107C>A (p.Ala36Glu) c.653C>A (p.Ala218Glu) n.82+273G>T | |
| 9 | g.127825731dup | CA2695211304 | ENG | c.107dup (p.His37AlafsTer?) c.653dup (p.His219AlafsTer?) n.82+273dup | |
| 9 | g.127825732C>A | CA374983550 | ENG | c.106G>T (p.Ala36Ser) c.652G>T (p.Ala218Ser) n.82+274C>A | |
| 9 | g.127825732C>G | CA374983551 | ENG | c.106G>C (p.Ala36Pro) c.652G>C (p.Ala218Pro) n.82+274C>G |