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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36246196T>A | CA373418627 | CLTA,GNE | c.544A>T (p.Thr182Ser) c.274A>T (p.Thr92Ser) c.451A>T (p.Thr151Ser) c.486-17002T>A (n.486-17002T>A) c.436A>T (p.Thr146Ser) | |
| 9 | g.36246196T>C | CA373418629 | CLTA,GNE | c.544A>G (p.Thr182Ala) c.274A>G (p.Thr92Ala) c.451A>G (p.Thr151Ala) c.486-17002T>C (n.486-17002T>C) c.436A>G (p.Thr146Ala) | |
| 9 | g.36246196T>G | CA373418631 | CLTA,GNE | c.544A>C (p.Thr182Pro) c.274A>C (p.Thr92Pro) c.451A>C (p.Thr151Pro) c.486-17002T>G (n.486-17002T>G) c.436A>C (p.Thr146Pro) | |
| 9 | g.36246197T>A | CA464619957 | CLTA,GNE | c.543A>T (p.Ile181=) c.273A>T (p.Ile91=) c.450A>T (p.Ile150=) c.486-17001T>A (n.486-17001T>A) c.435A>T (p.Ile145=) | dbSNP gnomAD v4 |
| 9 | g.36246197T>C | CA373418632 | CLTA,GNE | c.543A>G (p.Ile181Met) c.273A>G (p.Ile91Met) c.450A>G (p.Ile150Met) c.486-17001T>C (n.486-17001T>C) c.435A>G (p.Ile145Met) | |
| 9 | g.36246197T>G | CA464619956 | CLTA,GNE | c.543A>C (p.Ile181=) c.273A>C (p.Ile91=) c.450A>C (p.Ile150=) c.486-17001T>G (n.486-17001T>G) c.435A>C (p.Ile145=) | |
| 9 | g.36246197T= | CA1846375388 | CLTA,GNE | c.543A= (p.Ile181=) c.273A= (p.Ile91=) c.450A= (p.Ile150=) c.486-17001T= (n.486-17001T=) c.435A= (p.Ile145=) | |
| 9 | g.36246198A= | CA1846375390 | CLTA,GNE | c.542T= (p.Ile181=) c.272T= (p.Ile91=) c.449T= (p.Ile150=) c.486-17000A= (n.486-17000A=) c.434T= (p.Ile145=) | |
| 9 | g.36246198A>C | CA373418634 | CLTA,GNE | c.542T>G (p.Ile181Arg) c.272T>G (p.Ile91Arg) c.449T>G (p.Ile150Arg) c.486-17000A>C (n.486-17000A>C) c.434T>G (p.Ile145Arg) | |
| 9 | g.36246198A>G | CA373418636 | CLTA,GNE | c.542T>C (p.Ile181Thr) c.272T>C (p.Ile91Thr) c.449T>C (p.Ile150Thr) c.486-17000A>G (n.486-17000A>G) c.434T>C (p.Ile145Thr) | |
| 9 | g.36246198A>T | CA5056726 | CLTA,GNE | c.542T>A (p.Ile181Lys) c.272T>A (p.Ile91Lys) c.449T>A (p.Ile150Lys) c.486-17000A>T (n.486-17000A>T) c.434T>A (p.Ile145Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36246199T>A | CA5056727 | CLTA,GNE | c.541A>T (p.Ile181Leu) c.271A>T (p.Ile91Leu) c.448A>T (p.Ile150Leu) c.486-16999T>A (n.486-16999T>A) c.433A>T (p.Ile145Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36246199T>C | CA373418640 | CLTA,GNE | c.541A>G (p.Ile181Val) c.271A>G (p.Ile91Val) c.448A>G (p.Ile150Val) c.486-16999T>C (n.486-16999T>C) c.433A>G (p.Ile145Val) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 9 | g.36246199T>G | CA373418639 | CLTA,GNE | c.541A>C (p.Ile181Leu) c.271A>C (p.Ile91Leu) c.448A>C (p.Ile150Leu) c.486-16999T>G (n.486-16999T>G) c.433A>C (p.Ile145Leu) | |
| 9 | g.36246199T= | CA1846375399 | CLTA,GNE | c.541A= (p.Ile181=) c.271A= (p.Ile91=) c.448A= (p.Ile150=) c.486-16999T= (n.486-16999T=) c.433A= (p.Ile145=) | |
| 9 | g.36246200G>A | CA5056728 | CLTA,GNE | c.540C>T (p.Ala180=) c.270C>T (p.Ala90=) c.447C>T (p.Ala149=) c.486-16998G>A (n.486-16998G>A) c.432C>T (p.Ala144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36246200G>C | CA464619962 | CLTA,GNE | c.540C>G (p.Ala180=) c.270C>G (p.Ala90=) c.447C>G (p.Ala149=) c.486-16998G>C (n.486-16998G>C) c.432C>G (p.Ala144=) | |
| 9 | g.36246200G= | CA1846375401 | CLTA,GNE | c.540C= (p.Ala180=) c.270C= (p.Ala90=) c.447C= (p.Ala149=) c.486-16998G= (n.486-16998G=) c.432C= (p.Ala144=) | |
| 9 | g.36246200G>T | CA464619961 | CLTA,GNE | c.540C>A (p.Ala180=) c.270C>A (p.Ala90=) c.447C>A (p.Ala149=) c.486-16998G>T (n.486-16998G>T) c.432C>A (p.Ala144=) | |
| 9 | g.36246201G>A | CA373418644 | CLTA,GNE | c.539C>T (p.Ala180Val) c.269C>T (p.Ala90Val) c.446C>T (p.Ala149Val) c.486-16997G>A (n.486-16997G>A) c.431C>T (p.Ala144Val) | |
| 9 | g.36246201G>C | CA373418645 | CLTA,GNE | c.539C>G (p.Ala180Gly) c.269C>G (p.Ala90Gly) c.446C>G (p.Ala149Gly) c.486-16997G>C (n.486-16997G>C) c.431C>G (p.Ala144Gly) | |
| 9 | g.36246201G= | CA1846375405 | CLTA,GNE | c.539C= (p.Ala180=) c.269C= (p.Ala90=) c.446C= (p.Ala149=) c.486-16997G= (n.486-16997G=) c.431C= (p.Ala144=) | |
| 9 | g.36246201G>T | CA5056729 | CLTA,GNE | c.539C>A (p.Ala180Asp) c.269C>A (p.Ala90Asp) c.446C>A (p.Ala149Asp) c.486-16997G>T (n.486-16997G>T) c.431C>A (p.Ala144Asp) | dbSNP ExAC gnomAD v2 |
| 9 | g.36246202C>A | CA373418649 | CLTA,GNE | c.538G>T (p.Ala180Ser) c.268G>T (p.Ala90Ser) c.445G>T (p.Ala149Ser) c.486-16996C>A (n.486-16996C>A) c.430G>T (p.Ala144Ser) | ClinVar dbSNP |
| 9 | g.36246202C= | CA1846375410 | CLTA,GNE | c.538G= (p.Ala180=) c.268G= (p.Ala90=) c.445G= (p.Ala149=) c.486-16996C= (n.486-16996C=) c.430G= (p.Ala144=) | |
| 9 | g.36246202C>G | CA373418651 | CLTA,GNE | c.538G>C (p.Ala180Pro) c.268G>C (p.Ala90Pro) c.445G>C (p.Ala149Pro) c.486-16996C>G (n.486-16996C>G) c.430G>C (p.Ala144Pro) | |
| 9 | g.36246202C>T | CA373418653 | CLTA,GNE | c.538G>A (p.Ala180Thr) c.268G>A (p.Ala90Thr) c.445G>A (p.Ala149Thr) c.486-16996C>T (n.486-16996C>T) c.430G>A (p.Ala144Thr) | |
| 9 | g.36246203A>C | CA373418655 | CLTA,GNE | c.537T>G (p.His179Gln) c.267T>G (p.His89Gln) c.444T>G (p.His148Gln) c.486-16995A>C (n.486-16995A>C) c.429T>G (p.His143Gln) | |
| 9 | g.36246203A>G | CA464619966 | CLTA,GNE | c.537T>C (p.His179=) c.267T>C (p.His89=) c.444T>C (p.His148=) c.486-16995A>G (n.486-16995A>G) c.429T>C (p.His143=) | ClinVar gnomAD v4 |
| 9 | g.36246203A>T | CA373418657 | CLTA,GNE | c.537T>A (p.His179Gln) c.267T>A (p.His89Gln) c.444T>A (p.His148Gln) c.486-16995A>T (n.486-16995A>T) c.429T>A (p.His143Gln) | |
| 9 | g.36246204T>A | CA373418660 | CLTA,GNE | c.536A>T (p.His179Leu) c.266A>T (p.His89Leu) c.443A>T (p.His148Leu) c.486-16994T>A (n.486-16994T>A) c.428A>T (p.His143Leu) | |
| 9 | g.36246204T>C | CA373418662 | CLTA,GNE | c.536A>G (p.His179Arg) c.266A>G (p.His89Arg) c.443A>G (p.His148Arg) c.486-16994T>C (n.486-16994T>C) c.428A>G (p.His143Arg) | ClinVar |
| 9 | g.36246204T>G | CA373418663 | CLTA,GNE | c.536A>C (p.His179Pro) c.266A>C (p.His89Pro) c.443A>C (p.His148Pro) c.486-16994T>G (n.486-16994T>G) c.428A>C (p.His143Pro) | |
| 9 | g.36246205G>A | CA373418668 | CLTA,GNE | c.535C>T (p.His179Tyr) c.265C>T (p.His89Tyr) c.442C>T (p.His148Tyr) c.486-16993G>A (n.486-16993G>A) c.427C>T (p.His143Tyr) | gnomAD v4 |
| 9 | g.36246205G>C | CA373418670 | CLTA,GNE | c.535C>G (p.His179Asp) c.265C>G (p.His89Asp) c.442C>G (p.His148Asp) c.486-16993G>C (n.486-16993G>C) c.427C>G (p.His143Asp) | |
| 9 | g.36246205G>T | CA373418666 | CLTA,GNE | c.535C>A (p.His179Asn) c.265C>A (p.His89Asn) c.442C>A (p.His148Asn) c.486-16993G>T (n.486-16993G>T) c.427C>A (p.His143Asn) | |
| 9 | g.36246206T>A | CA373418672 | CLTA,GNE | c.534A>T (p.Arg178Ser) c.264A>T (p.Arg88Ser) c.441A>T (p.Arg147Ser) c.486-16992T>A (n.486-16992T>A) c.426A>T (p.Arg142Ser) | |
| 9 | g.36246206T>C | CA464619969 | CLTA,GNE | c.534A>G (p.Arg178=) c.264A>G (p.Arg88=) c.441A>G (p.Arg147=) c.486-16992T>C (n.486-16992T>C) c.426A>G (p.Arg142=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.36246206T>G | CA373418673 | CLTA,GNE | c.534A>C (p.Arg178Ser) c.264A>C (p.Arg88Ser) c.441A>C (p.Arg147Ser) c.486-16992T>G (n.486-16992T>G) c.426A>C (p.Arg142Ser) | |
| 9 | g.36246206T= | CA1846375415 | CLTA,GNE | c.534A= (p.Arg178=) c.264A= (p.Arg88=) c.441A= (p.Arg147=) c.486-16992T= (n.486-16992T=) c.426A= (p.Arg142=) | |
| 9 | g.36246207C>A | CA373418676 | CLTA,GNE | c.533G>T (p.Arg178Ile) c.263G>T (p.Arg88Ile) c.440G>T (p.Arg147Ile) c.486-16991C>A (n.486-16991C>A) c.425G>T (p.Arg142Ile) | |
| 9 | g.36246207C>G | CA373418677 | CLTA,GNE | c.533G>C (p.Arg178Thr) c.263G>C (p.Arg88Thr) c.440G>C (p.Arg147Thr) c.486-16991C>G (n.486-16991C>G) c.425G>C (p.Arg142Thr) | |
| 9 | g.36246207C>T | CA373418679 | CLTA,GNE | c.533G>A (p.Arg178Lys) c.263G>A (p.Arg88Lys) c.440G>A (p.Arg147Lys) c.486-16991C>T (n.486-16991C>T) c.425G>A (p.Arg142Lys) | |
| 9 | g.36246208T>A | CA373418681 | CLTA,GNE | c.532A>T (p.Arg178Ter) c.262A>T (p.Arg88Ter) c.439A>T (p.Arg147Ter) c.486-16990T>A (n.486-16990T>A) c.424A>T (p.Arg142Ter) | |
| 9 | g.36246208T>C | CA373418683 | CLTA,GNE | c.532A>G (p.Arg178Gly) c.262A>G (p.Arg88Gly) c.439A>G (p.Arg147Gly) c.486-16990T>C (n.486-16990T>C) c.424A>G (p.Arg142Gly) | gnomAD v4 |
| 9 | g.36246208T>G | CA464619970 | CLTA,GNE | c.532A>C (p.Arg178=) c.262A>C (p.Arg88=) c.439A>C (p.Arg147=) c.486-16990T>G (n.486-16990T>G) c.424A>C (p.Arg142=) | |
| 9 | g.36246208_36246212delinsTGATA | CA1846375418 | CLTA,GNE | c.528_532delinsTATCA (p.Ser176=) c.258_262delinsTATCA (p.Ser86=) c.435_439delinsTATCA (p.Ser145=) c.486-16990_486-16986delinsTGATA (n.486-16990_486-16986delinsTGATA) c.420_424delinsTATCA (p.Ser140=) | |
| 9 | g.36246209G>A | CA464619974 | CLTA,GNE | c.531C>T (p.Ile177=) c.261C>T (p.Ile87=) c.438C>T (p.Ile146=) c.486-16989G>A (n.486-16989G>A) c.423C>T (p.Ile141=) | |
| 9 | g.36246209G>C | CA373418685 | CLTA,GNE | c.531C>G (p.Ile177Met) c.261C>G (p.Ile87Met) c.438C>G (p.Ile146Met) c.486-16989G>C (n.486-16989G>C) c.423C>G (p.Ile141Met) | COSMIC COSMIC COSMIC |
| 9 | g.36246209G>T | CA464619976 | CLTA,GNE | c.531C>A (p.Ile177=) c.261C>A (p.Ile87=) c.438C>A (p.Ile146=) c.486-16989G>T (n.486-16989G>T) c.423C>A (p.Ile141=) | |
| 9 | g.36246211_36246214del | CA16041322 | CLTA,GNE | c.528_531del (p.Ile177AspfsTer4) c.258_261del (p.Ile87AspfsTer4) c.435_438del (p.Ile146AspfsTer4) c.486-16987_486-16984del (n.486-16987_486-16984del) c.420_423del (p.Ile141AspfsTer4) | ClinVar dbSNP |
| 9 | g.36246210A>C | CA373418689 | CLTA,GNE | c.530T>G (p.Ile177Ser) c.260T>G (p.Ile87Ser) c.437T>G (p.Ile146Ser) c.486-16988A>C (n.486-16988A>C) c.422T>G (p.Ile141Ser) | |
| 9 | g.36246210A>G | CA373418690 | CLTA,GNE | c.530T>C (p.Ile177Thr) c.260T>C (p.Ile87Thr) c.437T>C (p.Ile146Thr) c.486-16988A>G (n.486-16988A>G) c.422T>C (p.Ile141Thr) | |
| 9 | g.36246210A>T | CA373418692 | CLTA,GNE | c.530T>A (p.Ile177Asn) c.260T>A (p.Ile87Asn) c.437T>A (p.Ile146Asn) c.486-16988A>T (n.486-16988A>T) c.422T>A (p.Ile141Asn) | |
| 9 | g.36246210_36246211delinsAT | CA1846375426 | CLTA,GNE | c.529_530delinsAT (p.Ile177=) c.259_260delinsAT (p.Ile87=) c.436_437delinsAT (p.Ile146=) c.486-16988_486-16987delinsAT (n.486-16988_486-16987delinsAT) c.421_422delinsAT (p.Ile141=) | |
| 9 | g.36246211del | CA1123252950 | CLTA,GNE | c.529del (p.Ile177SerfsTer5) c.259del (p.Ile87SerfsTer5) c.436del (p.Ile146SerfsTer5) c.486-16987del (n.486-16987del) c.421del (p.Ile141SerfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.36246211T>A | CA373418696 | CLTA,GNE | c.529A>T (p.Ile177Phe) c.259A>T (p.Ile87Phe) c.436A>T (p.Ile146Phe) c.486-16987T>A (n.486-16987T>A) c.421A>T (p.Ile141Phe) | |
| 9 | g.36246211T>C | CA373418698 | CLTA,GNE | c.529A>G (p.Ile177Val) c.259A>G (p.Ile87Val) c.436A>G (p.Ile146Val) c.486-16987T>C (n.486-16987T>C) c.421A>G (p.Ile141Val) | ClinVar dbSNP |
| 9 | g.36246211T>G | CA373418695 | CLTA,GNE | c.529A>C (p.Ile177Leu) c.259A>C (p.Ile87Leu) c.436A>C (p.Ile146Leu) c.486-16987T>G (n.486-16987T>G) c.421A>C (p.Ile141Leu) | |
| 9 | g.36246212A= | CA1846375430 | CLTA,GNE | c.528T= (p.Ser176=) c.258T= (p.Ser86=) c.435T= (p.Ser145=) c.486-16986A= (n.486-16986A=) c.420T= (p.Ser140=) | |
| 9 | g.36246212A>C | CA464619981 | CLTA,GNE | c.528T>G (p.Ser176=) c.258T>G (p.Ser86=) c.435T>G (p.Ser145=) c.486-16986A>C (n.486-16986A>C) c.420T>G (p.Ser140=) | |
| 9 | g.36246212A>G | CA5056730 | CLTA,GNE | c.528T>C (p.Ser176=) c.258T>C (p.Ser86=) c.435T>C (p.Ser145=) c.486-16986A>G (n.486-16986A>G) c.420T>C (p.Ser140=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36246212A>T | CA464619983 | CLTA,GNE | c.528T>A (p.Ser176=) c.258T>A (p.Ser86=) c.435T>A (p.Ser145=) c.486-16986A>T (n.486-16986A>T) c.420T>A (p.Ser140=) | |
| 9 | g.36246212dup | CA2689947824 | CLTA,GNE | c.528dup (p.Ile177TyrfsTer28) c.258dup (p.Ile87TyrfsTer28) c.435dup (p.Ile146TyrfsTer28) c.486-16986dup (n.486-16986dup) c.420dup (p.Ile141TyrfsTer28) | gnomAD v4 |
| 9 | g.36246213G>A | CA373418702 | CLTA,GNE | c.527C>T (p.Ser176Phe) c.257C>T (p.Ser86Phe) c.434C>T (p.Ser145Phe) c.486-16985G>A (n.486-16985G>A) c.419C>T (p.Ser140Phe) | |
| 9 | g.36246213G>C | CA373418704 | CLTA,GNE | c.527C>G (p.Ser176Cys) c.257C>G (p.Ser86Cys) c.434C>G (p.Ser145Cys) c.486-16985G>C (n.486-16985G>C) c.419C>G (p.Ser140Cys) | |
| 9 | g.36246213G>T | CA373418706 | CLTA,GNE | c.527C>A (p.Ser176Tyr) c.257C>A (p.Ser86Tyr) c.434C>A (p.Ser145Tyr) c.486-16985G>T (n.486-16985G>T) c.419C>A (p.Ser140Tyr) | |
| 9 | g.36246214A>C | CA373418708 | CLTA,GNE | c.526T>G (p.Ser176Ala) c.256T>G (p.Ser86Ala) c.433T>G (p.Ser145Ala) c.486-16984A>C (n.486-16984A>C) c.418T>G (p.Ser140Ala) | gnomAD v4 |
| 9 | g.36246214A>G | CA373418711 | CLTA,GNE | c.526T>C (p.Ser176Pro) c.256T>C (p.Ser86Pro) c.433T>C (p.Ser145Pro) c.486-16984A>G (n.486-16984A>G) c.418T>C (p.Ser140Pro) | |
| 9 | g.36246214A>T | CA373418712 | CLTA,GNE | c.526T>A (p.Ser176Thr) c.256T>A (p.Ser86Thr) c.433T>A (p.Ser145Thr) c.486-16984A>T (n.486-16984A>T) c.418T>A (p.Ser140Thr) | |
| 9 | g.36246215G>A | CA464619988 | CLTA,GNE | c.525C>T (p.Asp175=) c.255C>T (p.Asp85=) c.432C>T (p.Asp144=) c.486-16983G>A (n.486-16983G>A) c.417C>T (p.Asp139=) | ClinVar dbSNP |
| 9 | g.36246215G>C | CA373418714 | CLTA,GNE | c.525C>G (p.Asp175Glu) c.255C>G (p.Asp85Glu) c.432C>G (p.Asp144Glu) c.486-16983G>C (n.486-16983G>C) c.417C>G (p.Asp139Glu) | |
| 9 | g.36246215G>T | CA373418716 | CLTA,GNE | c.525C>A (p.Asp175Glu) c.255C>A (p.Asp85Glu) c.432C>A (p.Asp144Glu) c.486-16983G>T (n.486-16983G>T) c.417C>A (p.Asp139Glu) | |
| 9 | g.36246216T>A | CA373418718 | CLTA,GNE | c.524A>T (p.Asp175Val) c.254A>T (p.Asp85Val) c.431A>T (p.Asp144Val) c.486-16982T>A (n.486-16982T>A) c.416A>T (p.Asp139Val) | |
| 9 | g.36246216T>C | CA373418720 | CLTA,GNE | c.524A>G (p.Asp175Gly) c.254A>G (p.Asp85Gly) c.431A>G (p.Asp144Gly) c.486-16982T>C (n.486-16982T>C) c.416A>G (p.Asp139Gly) | |
| 9 | g.36246216T>G | CA373418722 | CLTA,GNE | c.524A>C (p.Asp175Ala) c.254A>C (p.Asp85Ala) c.431A>C (p.Asp144Ala) c.486-16982T>G (n.486-16982T>G) c.416A>C (p.Asp139Ala) | |
| 9 | g.36246217C>A | CA373418724 | CLTA,GNE | c.523G>T (p.Asp175Tyr) c.253G>T (p.Asp85Tyr) c.430G>T (p.Asp144Tyr) c.486-16981C>A (n.486-16981C>A) c.415G>T (p.Asp139Tyr) | gnomAD v4 |
| 9 | g.36246217C>G | CA373418726 | CLTA,GNE | c.523G>C (p.Asp175His) c.253G>C (p.Asp85His) c.430G>C (p.Asp144His) c.486-16981C>G (n.486-16981C>G) c.415G>C (p.Asp139His) | gnomAD v4 |
| 9 | g.36246217C>T | CA373418727 | CLTA,GNE | c.523G>A (p.Asp175Asn) c.253G>A (p.Asp85Asn) c.430G>A (p.Asp144Asn) c.486-16981C>T (n.486-16981C>T) c.415G>A (p.Asp139Asn) | |
| 9 | g.36246218A= | CA1846375436 | CLTA,GNE | c.522T= (p.Asp174=) c.252T= (p.Asp84=) c.429T= (p.Asp143=) c.486-16980A= (n.486-16980A=) c.414T= (p.Asp138=) | |
| 9 | g.36246218A>C | CA373418730 | CLTA,GNE | c.522T>G (p.Asp174Glu) c.252T>G (p.Asp84Glu) c.429T>G (p.Asp143Glu) c.486-16980A>C (n.486-16980A>C) c.414T>G (p.Asp138Glu) | |
| 9 | g.36246218A>G | CA464619996 | CLTA,GNE | c.522T>C (p.Asp174=) c.252T>C (p.Asp84=) c.429T>C (p.Asp143=) c.486-16980A>G (n.486-16980A>G) c.414T>C (p.Asp138=) | ClinVar dbSNP |
| 9 | g.36246218A>T | CA373418732 | CLTA,GNE | c.522T>A (p.Asp174Glu) c.252T>A (p.Asp84Glu) c.429T>A (p.Asp143Glu) c.486-16980A>T (n.486-16980A>T) c.414T>A (p.Asp138Glu) | gnomAD v4 |
| 9 | g.36246219T>A | CA373418734 | CLTA,GNE | c.521A>T (p.Asp174Val) c.251A>T (p.Asp84Val) c.428A>T (p.Asp143Val) c.486-16979T>A (n.486-16979T>A) c.413A>T (p.Asp138Val) | |
| 9 | g.36246219T>C | CA373418738 | CLTA,GNE | c.521A>G (p.Asp174Gly) c.251A>G (p.Asp84Gly) c.428A>G (p.Asp143Gly) c.486-16979T>C (n.486-16979T>C) c.413A>G (p.Asp138Gly) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.36246219T>G | CA373418736 | CLTA,GNE | c.521A>C (p.Asp174Ala) c.251A>C (p.Asp84Ala) c.428A>C (p.Asp143Ala) c.486-16979T>G (n.486-16979T>G) c.413A>C (p.Asp138Ala) | |
| 9 | g.36246220C>A | CA373418740 | CLTA,GNE | c.520G>T (p.Asp174Tyr) c.250G>T (p.Asp84Tyr) c.427G>T (p.Asp143Tyr) c.486-16978C>A (n.486-16978C>A) c.412G>T (p.Asp138Tyr) | |
| 9 | g.36246220C>G | CA373418742 | CLTA,GNE | c.520G>C (p.Asp174His) c.250G>C (p.Asp84His) c.427G>C (p.Asp143His) c.486-16978C>G (n.486-16978C>G) c.412G>C (p.Asp138His) | |
| 9 | g.36246220C>T | CA373418744 | CLTA,GNE | c.520G>A (p.Asp174Asn) c.250G>A (p.Asp84Asn) c.427G>A (p.Asp143Asn) c.486-16978C>T (n.486-16978C>T) c.412G>A (p.Asp138Asn) | |
| 9 | g.36246221A>C | CA373418746 | CLTA,GNE | c.519T>G (p.Ile173Met) c.249T>G (p.Ile83Met) c.426T>G (p.Ile142Met) c.486-16977A>C (n.486-16977A>C) c.411T>G (p.Ile137Met) | |
| 9 | g.36246221A>G | CA464620002 | CLTA,GNE | c.519T>C (p.Ile173=) c.249T>C (p.Ile83=) c.426T>C (p.Ile142=) c.486-16977A>G (n.486-16977A>G) c.411T>C (p.Ile137=) | |
| 9 | g.36246221A>T | CA464620000 | CLTA,GNE | c.519T>A (p.Ile173=) c.249T>A (p.Ile83=) c.426T>A (p.Ile142=) c.486-16977A>T (n.486-16977A>T) c.411T>A (p.Ile137=) | |
| 9 | g.36246222A= | CA1846375443 | CLTA,GNE | c.518T= (p.Ile173=) c.248T= (p.Ile83=) c.425T= (p.Ile142=) c.486-16976A= (n.486-16976A=) c.410T= (p.Ile137=) | |
| 9 | g.36246222A>C | CA373418749 | CLTA,GNE | c.518T>G (p.Ile173Ser) c.248T>G (p.Ile83Ser) c.425T>G (p.Ile142Ser) c.486-16976A>C (n.486-16976A>C) c.410T>G (p.Ile137Ser) | |
| 9 | g.36246222A>G | CA373418750 | CLTA,GNE | c.518T>C (p.Ile173Thr) c.248T>C (p.Ile83Thr) c.425T>C (p.Ile142Thr) c.486-16976A>G (n.486-16976A>G) c.410T>C (p.Ile137Thr) | ClinVar dbSNP gnomAD v4 |
| 9 | g.36246222A>T | CA373418752 | CLTA,GNE | c.518T>A (p.Ile173Asn) c.248T>A (p.Ile83Asn) c.425T>A (p.Ile142Asn) c.486-16976A>T (n.486-16976A>T) c.410T>A (p.Ile137Asn) | |
| 9 | g.36246223T>A | CA373418755 | CLTA,GNE | c.517A>T (p.Ile173Phe) c.247A>T (p.Ile83Phe) c.424A>T (p.Ile142Phe) c.486-16975T>A (n.486-16975T>A) c.409A>T (p.Ile137Phe) | |
| 9 | g.36246223T>C | CA373418756 | CLTA,GNE | c.517A>G (p.Ile173Val) c.247A>G (p.Ile83Val) c.424A>G (p.Ile142Val) c.486-16975T>C (n.486-16975T>C) c.409A>G (p.Ile137Val) | |
| 9 | g.36246223T>G | CA373418758 | CLTA,GNE | c.517A>C (p.Ile173Leu) c.247A>C (p.Ile83Leu) c.424A>C (p.Ile142Leu) c.486-16975T>G (n.486-16975T>G) c.409A>C (p.Ile137Leu) | |
| 9 | g.36246224G>A | CA464620007 | CLTA,GNE | c.516C>T (p.Thr172=) c.246C>T (p.Thr82=) c.423C>T (p.Thr141=) c.486-16974G>A (n.486-16974G>A) c.408C>T (p.Thr136=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.36246224G>C | CA464620009 | CLTA,GNE | c.516C>G (p.Thr172=) c.246C>G (p.Thr82=) c.423C>G (p.Thr141=) c.486-16974G>C (n.486-16974G>C) c.408C>G (p.Thr136=) | |
| 9 | g.36246224G= | CA1846375446 | CLTA,GNE | c.516C= (p.Thr172=) c.246C= (p.Thr82=) c.423C= (p.Thr141=) c.486-16974G= (n.486-16974G=) c.408C= (p.Thr136=) | |
| 9 | g.36246224G>T | CA464620008 | CLTA,GNE | c.516C>A (p.Thr172=) c.246C>A (p.Thr82=) c.423C>A (p.Thr141=) c.486-16974G>T (n.486-16974G>T) c.408C>A (p.Thr136=) | |
| 9 | g.36246225G>A | CA373418759 | CLTA,GNE | c.515C>T (p.Thr172Ile) c.245C>T (p.Thr82Ile) c.422C>T (p.Thr141Ile) c.486-16973G>A (n.486-16973G>A) c.407C>T (p.Thr136Ile) | |
| 9 | g.36246225G>C | CA373418761 | CLTA,GNE | c.515C>G (p.Thr172Ser) c.245C>G (p.Thr82Ser) c.422C>G (p.Thr141Ser) c.486-16973G>C (n.486-16973G>C) c.407C>G (p.Thr136Ser) | |
| 9 | g.36246225G>T | CA373418763 | CLTA,GNE | c.515C>A (p.Thr172Asn) c.245C>A (p.Thr82Asn) c.422C>A (p.Thr141Asn) c.486-16973G>T (n.486-16973G>T) c.407C>A (p.Thr136Asn) | |
| 9 | g.36246226T>A | CA373418776 | CLTA,GNE | c.514A>T (p.Thr172Ser) c.244A>T (p.Thr82Ser) c.421A>T (p.Thr141Ser) c.486-16972T>A (n.486-16972T>A) c.406A>T (p.Thr136Ser) | |
| 9 | g.36246226T>C | CA373418766 | CLTA,GNE | c.514A>G (p.Thr172Ala) c.244A>G (p.Thr82Ala) c.421A>G (p.Thr141Ala) c.486-16972T>C (n.486-16972T>C) c.406A>G (p.Thr136Ala) | |
| 9 | g.36246226T>G | CA373418768 | CLTA,GNE | c.514A>C (p.Thr172Pro) c.244A>C (p.Thr82Pro) c.421A>C (p.Thr141Pro) c.486-16972T>G (n.486-16972T>G) c.406A>C (p.Thr136Pro) | |
| 9 | g.36246227C>A | CA464620012 | CLTA,GNE | c.513G>T (p.Gly171=) c.243G>T (p.Gly81=) c.420G>T (p.Gly140=) c.486-16971C>A (n.486-16971C>A) c.405G>T (p.Gly135=) | |
| 9 | g.36246227C>G | CA464620013 | CLTA,GNE | c.513G>C (p.Gly171=) c.243G>C (p.Gly81=) c.420G>C (p.Gly140=) c.486-16971C>G (n.486-16971C>G) c.405G>C (p.Gly135=) | |
| 9 | g.36246227C>T | CA464620014 | CLTA,GNE | c.513G>A (p.Gly171=) c.243G>A (p.Gly81=) c.420G>A (p.Gly140=) c.486-16971C>T (n.486-16971C>T) c.405G>A (p.Gly135=) | ClinVar dbSNP |
| 9 | g.36246228C>A | CA373418780 | CLTA,GNE | c.512G>T (p.Gly171Val) c.242G>T (p.Gly81Val) c.419G>T (p.Gly140Val) c.486-16970C>A (n.486-16970C>A) c.404G>T (p.Gly135Val) | |
| 9 | g.36246228C>G | CA373418783 | CLTA,GNE | c.512G>C (p.Gly171Ala) c.242G>C (p.Gly81Ala) c.419G>C (p.Gly140Ala) c.486-16970C>G (n.486-16970C>G) c.404G>C (p.Gly135Ala) | |
| 9 | g.36246228C>T | CA373418786 | CLTA,GNE | c.512G>A (p.Gly171Glu) c.242G>A (p.Gly81Glu) c.419G>A (p.Gly140Glu) c.486-16970C>T (n.486-16970C>T) c.404G>A (p.Gly135Glu) | gnomAD v4 |
| 9 | g.36246229C>A | CA373418788 | CLTA,GNE | c.511G>T (p.Gly171Trp) c.241G>T (p.Gly81Trp) c.418G>T (p.Gly140Trp) c.486-16969C>A (n.486-16969C>A) c.403G>T (p.Gly135Trp) | |
| 9 | g.36246229C>G | CA373418791 | CLTA,GNE | c.511G>C (p.Gly171Arg) c.241G>C (p.Gly81Arg) c.418G>C (p.Gly140Arg) c.486-16969C>G (n.486-16969C>G) c.403G>C (p.Gly135Arg) | |
| 9 | g.36246229C>T | CA373418793 | CLTA,GNE | c.511G>A (p.Gly171Arg) c.241G>A (p.Gly81Arg) c.418G>A (p.Gly140Arg) c.486-16969C>T (n.486-16969C>T) c.403G>A (p.Gly135Arg) | |
| 9 | g.36246230A= | CA1846375452 | CLTA,GNE | c.510T= (p.Ser170=) c.240T= (p.Ser80=) c.417T= (p.Ser139=) c.486-16968A= (n.486-16968A=) c.402T= (p.Ser134=) | |
| 9 | g.36246230A>C | CA373418797 | CLTA,GNE | c.510T>G (p.Ser170Arg) c.240T>G (p.Ser80Arg) c.417T>G (p.Ser139Arg) c.486-16968A>C (n.486-16968A>C) c.402T>G (p.Ser134Arg) | |
| 9 | g.36246230A>G | CA464620017 | CLTA,GNE | c.510T>C (p.Ser170=) c.240T>C (p.Ser80=) c.417T>C (p.Ser139=) c.486-16968A>G (n.486-16968A>G) c.402T>C (p.Ser134=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.36246230A>T | CA373418800 | CLTA,GNE | c.510T>A (p.Ser170Arg) c.240T>A (p.Ser80Arg) c.417T>A (p.Ser139Arg) c.486-16968A>T (n.486-16968A>T) c.402T>A (p.Ser134Arg) | |
| 9 | g.36246231C>A | CA373418804 | CLTA,GNE | c.509G>T (p.Ser170Ile) c.239G>T (p.Ser80Ile) c.416G>T (p.Ser139Ile) c.486-16967C>A (n.486-16967C>A) c.401G>T (p.Ser134Ile) | |
| 9 | g.36246231C>G | CA373418807 | CLTA,GNE | c.509G>C (p.Ser170Thr) c.239G>C (p.Ser80Thr) c.416G>C (p.Ser139Thr) c.486-16967C>G (n.486-16967C>G) c.401G>C (p.Ser134Thr) | |
| 9 | g.36246231C>T | CA373418811 | CLTA,GNE | c.509G>A (p.Ser170Asn) c.239G>A (p.Ser80Asn) c.416G>A (p.Ser139Asn) c.486-16967C>T (n.486-16967C>T) c.401G>A (p.Ser134Asn) | gnomAD v4 |
| 9 | g.36246232T>A | CA373418821 | CLTA,GNE | c.508A>T (p.Ser170Cys) c.238A>T (p.Ser80Cys) c.415A>T (p.Ser139Cys) c.486-16966T>A (n.486-16966T>A) c.400A>T (p.Ser134Cys) | |
| 9 | g.36246232T>C | CA373418817 | CLTA,GNE | c.508A>G (p.Ser170Gly) c.238A>G (p.Ser80Gly) c.415A>G (p.Ser139Gly) c.486-16966T>C (n.486-16966T>C) c.400A>G (p.Ser134Gly) | |
| 9 | g.36246232T>G | CA373418815 | CLTA,GNE | c.508A>C (p.Ser170Arg) c.238A>C (p.Ser80Arg) c.415A>C (p.Ser139Arg) c.486-16966T>G (n.486-16966T>G) c.400A>C (p.Ser134Arg) | |
| 9 | g.36246233G>A | CA464620024 | CLTA,GNE | c.507C>T (p.Val169=) c.237C>T (p.Val79=) c.414C>T (p.Val138=) c.486-16965G>A (n.486-16965G>A) c.399C>T (p.Val133=) | |
| 9 | g.36246233G>C | CA464620026 | CLTA,GNE | c.507C>G (p.Val169=) c.237C>G (p.Val79=) c.414C>G (p.Val138=) c.486-16965G>C (n.486-16965G>C) c.399C>G (p.Val133=) | |
| 9 | g.36246233G>T | CA464620027 | CLTA,GNE | c.507C>A (p.Val169=) c.237C>A (p.Val79=) c.414C>A (p.Val138=) c.486-16965G>T (n.486-16965G>T) c.399C>A (p.Val133=) | |
| 9 | g.36246234A>C | CA373418824 | CLTA,GNE | c.506T>G (p.Val169Gly) c.236T>G (p.Val79Gly) c.413T>G (p.Val138Gly) c.486-16964A>C (n.486-16964A>C) c.398T>G (p.Val133Gly) | |
| 9 | g.36246234A>G | CA373418826 | CLTA,GNE | c.506T>C (p.Val169Ala) c.236T>C (p.Val79Ala) c.413T>C (p.Val138Ala) c.486-16964A>G (n.486-16964A>G) c.398T>C (p.Val133Ala) | |
| 9 | g.36246234A>T | CA373418829 | CLTA,GNE | c.506T>A (p.Val169Asp) c.236T>A (p.Val79Asp) c.413T>A (p.Val138Asp) c.486-16964A>T (n.486-16964A>T) c.398T>A (p.Val133Asp) | |
| 9 | g.36246235C>A | CA373418835 | CLTA,GNE | c.505G>T (p.Val169Phe) c.235G>T (p.Val79Phe) c.412G>T (p.Val138Phe) c.486-16963C>A (n.486-16963C>A) c.397G>T (p.Val133Phe) | |
| 9 | g.36246235C>G | CA373418836 | CLTA,GNE | c.505G>C (p.Val169Leu) c.235G>C (p.Val79Leu) c.412G>C (p.Val138Leu) c.486-16963C>G (n.486-16963C>G) c.397G>C (p.Val133Leu) | |
| 9 | g.36246235C>T | CA373418840 | CLTA,GNE | c.505G>A (p.Val169Ile) c.235G>A (p.Val79Ile) c.412G>A (p.Val138Ile) c.486-16963C>T (n.486-16963C>T) c.397G>A (p.Val133Ile) | |
| 9 | g.36246236T>A | CA373418855 | CLTA,GNE | c.504A>T (p.Glu168Asp) c.234A>T (p.Glu78Asp) c.411A>T (p.Glu137Asp) c.486-16962T>A (n.486-16962T>A) c.396A>T (p.Glu132Asp) | |
| 9 | g.36246236T>C | CA464620032 | CLTA,GNE | c.504A>G (p.Glu168=) c.234A>G (p.Glu78=) c.411A>G (p.Glu137=) c.486-16962T>C (n.486-16962T>C) c.396A>G (p.Glu132=) | dbSNP |
| 9 | g.36246236T>G | CA373418845 | CLTA,GNE | c.504A>C (p.Glu168Asp) c.234A>C (p.Glu78Asp) c.411A>C (p.Glu137Asp) c.486-16962T>G (n.486-16962T>G) c.396A>C (p.Glu132Asp) | |
| 9 | g.36246236T= | CA1846320787 | CLTA,GNE | c.504A= (p.Glu168=) c.234A= (p.Glu78=) c.411A= (p.Glu137=) c.486-16962T= (n.486-16962T=) c.396A= (p.Glu132=) | |
| 9 | g.36246237T>A | CA373418857 | CLTA,GNE | c.503A>T (p.Glu168Val) c.233A>T (p.Glu78Val) c.410A>T (p.Glu137Val) c.486-16961T>A (n.486-16961T>A) c.395A>T (p.Glu132Val) | |
| 9 | g.36246237T>C | CA373418860 | CLTA,GNE | c.503A>G (p.Glu168Gly) c.233A>G (p.Glu78Gly) c.410A>G (p.Glu137Gly) c.486-16961T>C (n.486-16961T>C) c.395A>G (p.Glu132Gly) | |
| 9 | g.36246237T>G | CA373418862 | CLTA,GNE | c.503A>C (p.Glu168Ala) c.233A>C (p.Glu78Ala) c.410A>C (p.Glu137Ala) c.486-16961T>G (n.486-16961T>G) c.395A>C (p.Glu132Ala) | |
| 9 | g.36246238C>A | CA373418865 | CLTA,GNE | c.502G>T (p.Glu168Ter) c.232G>T (p.Glu78Ter) c.409G>T (p.Glu137Ter) c.486-16960C>A (n.486-16960C>A) c.394G>T (p.Glu132Ter) | |
| 9 | g.36246238C>G | CA373418868 | CLTA,GNE | c.502G>C (p.Glu168Gln) c.232G>C (p.Glu78Gln) c.409G>C (p.Glu137Gln) c.486-16960C>G (n.486-16960C>G) c.394G>C (p.Glu132Gln) | |
| 9 | g.36246238C>T | CA373418873 | CLTA,GNE | c.502G>A (p.Glu168Lys) c.232G>A (p.Glu78Lys) c.409G>A (p.Glu137Lys) c.486-16960C>T (n.486-16960C>T) c.394G>A (p.Glu132Lys) | |
| 9 | g.36246241dup | CA2839078052 | CLTA,GNE | c.502dup (p.Glu168GlyfsTer7) c.232dup (p.Glu78GlyfsTer7) c.409dup (p.Glu137GlyfsTer7) c.486-16957dup (n.486-16957dup) c.394dup (p.Glu132GlyfsTer7) | |
| 9 | g.36246241del | CA2579338612 | CLTA,GNE | c.502del (p.Glu168LysfsTer14) c.232del (p.Glu78LysfsTer14) c.409del (p.Glu137LysfsTer14) c.486-16957del (n.486-16957del) c.394del (p.Glu132LysfsTer14) | |
| 9 | g.36246239C>A | CA464620040 | CLTA,GNE | c.501G>T (p.Gly167=) c.231G>T (p.Gly77=) c.408G>T (p.Gly136=) c.486-16959C>A (n.486-16959C>A) c.393G>T (p.Gly131=) | |
| 9 | g.36246239C>G | CA464620046 | CLTA,GNE | c.501G>C (p.Gly167=) c.231G>C (p.Gly77=) c.408G>C (p.Gly136=) c.486-16959C>G (n.486-16959C>G) c.393G>C (p.Gly131=) | |
| 9 | g.36246239C>T | CA464620045 | CLTA,GNE | c.501G>A (p.Gly167=) c.231G>A (p.Gly77=) c.408G>A (p.Gly136=) c.486-16959C>T (n.486-16959C>T) c.393G>A (p.Gly131=) | |
| 9 | g.36246240C>A | CA373418878 | CLTA,GNE | c.500G>T (p.Gly167Val) c.230G>T (p.Gly77Val) c.407G>T (p.Gly136Val) c.486-16958C>A (n.486-16958C>A) c.392G>T (p.Gly131Val) | |
| 9 | g.36246240C= | CA1846320795 | CLTA,GNE | c.500G= (p.Gly167=) c.230G= (p.Gly77=) c.407G= (p.Gly136=) c.486-16958C= (n.486-16958C=) c.392G= (p.Gly131=) | |
| 9 | g.36246240C>G | CA373418884 | CLTA,GNE | c.500G>C (p.Gly167Ala) c.230G>C (p.Gly77Ala) c.407G>C (p.Gly136Ala) c.486-16958C>G (n.486-16958C>G) c.392G>C (p.Gly131Ala) | |
| 9 | g.36246240C>T | CA373418882 | CLTA,GNE | c.500G>A (p.Gly167Glu) c.230G>A (p.Gly77Glu) c.407G>A (p.Gly136Glu) c.486-16958C>T (n.486-16958C>T) c.392G>A (p.Gly131Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.36246241C>A | CA373418899 | CLTA,GNE | c.499G>T (p.Gly167Trp) c.229G>T (p.Gly77Trp) c.406G>T (p.Gly136Trp) c.486-16957C>A (n.486-16957C>A) c.391G>T (p.Gly131Trp) | |
| 9 | g.36246241C>G | CA373418902 | CLTA,GNE | c.499G>C (p.Gly167Arg) c.229G>C (p.Gly77Arg) c.406G>C (p.Gly136Arg) c.486-16957C>G (n.486-16957C>G) c.391G>C (p.Gly131Arg) | |
| 9 | g.36246241C>T | CA373418906 | CLTA,GNE | c.499G>A (p.Gly167Arg) c.229G>A (p.Gly77Arg) c.406G>A (p.Gly136Arg) c.486-16957C>T (n.486-16957C>T) c.391G>A (p.Gly131Arg) | |
| 9 | g.36246242A= | CA1846320802 | CLTA,GNE | c.498T= (p.Gly166=) c.228T= (p.Gly76=) c.405T= (p.Gly135=) c.486-16956A= (n.486-16956A=) c.390T= (p.Gly130=) | |
| 9 | g.36246242A>C | CA464620052 | CLTA,GNE | c.498T>G (p.Gly166=) c.228T>G (p.Gly76=) c.405T>G (p.Gly135=) c.486-16956A>C (n.486-16956A>C) c.390T>G (p.Gly130=) | dbSNP |
| 9 | g.36246242A>G | CA464620053 | CLTA,GNE | c.498T>C (p.Gly166=) c.228T>C (p.Gly76=) c.405T>C (p.Gly135=) c.486-16956A>G (n.486-16956A>G) c.390T>C (p.Gly130=) | |
| 9 | g.36246242A>T | CA464620054 | CLTA,GNE | c.498T>A (p.Gly166=) c.228T>A (p.Gly76=) c.405T>A (p.Gly135=) c.486-16956A>T (n.486-16956A>T) c.390T>A (p.Gly130=) | |
| 9 | g.36246243C>A | CA373418912 | CLTA,GNE | c.497G>T (p.Gly166Val) c.227G>T (p.Gly76Val) c.404G>T (p.Gly135Val) c.486-16955C>A (n.486-16955C>A) c.389G>T (p.Gly130Val) | ClinVar dbSNP |
| 9 | g.36246243C= | CA1846320807 | CLTA,GNE | c.497G= (p.Gly166=) c.227G= (p.Gly76=) c.404G= (p.Gly135=) c.486-16955C= (n.486-16955C=) c.389G= (p.Gly130=) | |
| 9 | g.36246243C>G | CA373418914 | CLTA,GNE | c.497G>C (p.Gly166Ala) c.227G>C (p.Gly76Ala) c.404G>C (p.Gly135Ala) c.486-16955C>G (n.486-16955C>G) c.389G>C (p.Gly130Ala) | |
| 9 | g.36246243C>T | CA373418916 | CLTA,GNE | c.497G>A (p.Gly166Asp) c.227G>A (p.Gly76Asp) c.404G>A (p.Gly135Asp) c.486-16955C>T (n.486-16955C>T) c.389G>A (p.Gly130Asp) | gnomAD v4 |
| 9 | g.36246244C>A | CA373418921 | CLTA,GNE | c.496G>T (p.Gly166Cys) c.226G>T (p.Gly76Cys) c.403G>T (p.Gly135Cys) c.486-16954C>A (n.486-16954C>A) c.388G>T (p.Gly130Cys) | |
| 9 | g.36246244C>G | CA373418923 | CLTA,GNE | c.496G>C (p.Gly166Arg) c.226G>C (p.Gly76Arg) c.403G>C (p.Gly135Arg) c.486-16954C>G (n.486-16954C>G) c.388G>C (p.Gly130Arg) | |
| 9 | g.36246244C>T | CA373418926 | CLTA,GNE | c.496G>A (p.Gly166Ser) c.226G>A (p.Gly76Ser) c.403G>A (p.Gly135Ser) c.486-16954C>T (n.486-16954C>T) c.388G>A (p.Gly130Ser) | |
| 9 | g.36246245T>A | CA373418936 | CLTA,GNE | c.495A>T (p.Glu165Asp) c.225A>T (p.Glu75Asp) c.402A>T (p.Glu134Asp) c.486-16953T>A (n.486-16953T>A) c.387A>T (p.Glu129Asp) | |
| 9 | g.36246245T>C | CA464620056 | CLTA,GNE | c.495A>G (p.Glu165=) c.225A>G (p.Glu75=) c.402A>G (p.Glu134=) c.486-16953T>C (n.486-16953T>C) c.387A>G (p.Glu129=) | |
| 9 | g.36246245T>G | CA373418939 | CLTA,GNE | c.495A>C (p.Glu165Asp) c.225A>C (p.Glu75Asp) c.402A>C (p.Glu134Asp) c.486-16953T>G (n.486-16953T>G) c.387A>C (p.Glu129Asp) | |
| 9 | g.36246246T>A | CA373418944 | CLTA,GNE | c.494A>T (p.Glu165Val) c.224A>T (p.Glu75Val) c.401A>T (p.Glu134Val) c.486-16952T>A (n.486-16952T>A) c.386A>T (p.Glu129Val) | |
| 9 | g.36246246T>C | CA373418949 | CLTA,GNE | c.494A>G (p.Glu165Gly) c.224A>G (p.Glu75Gly) c.401A>G (p.Glu134Gly) c.486-16952T>C (n.486-16952T>C) c.386A>G (p.Glu129Gly) | |
| 9 | g.36246246T>G | CA373418947 | CLTA,GNE | c.494A>C (p.Glu165Ala) c.224A>C (p.Glu75Ala) c.401A>C (p.Glu134Ala) c.486-16952T>G (n.486-16952T>G) c.386A>C (p.Glu129Ala) | |
| 9 | g.36246247C>A | CA373418954 | CLTA,GNE | c.493G>T (p.Glu165Ter) c.223G>T (p.Glu75Ter) c.400G>T (p.Glu134Ter) c.486-16951C>A (n.486-16951C>A) c.385G>T (p.Glu129Ter) | |
| 9 | g.36246247C>G | CA373418958 | CLTA,GNE | c.493G>C (p.Glu165Gln) c.223G>C (p.Glu75Gln) c.400G>C (p.Glu134Gln) c.486-16951C>G (n.486-16951C>G) c.385G>C (p.Glu129Gln) | |
| 9 | g.36246247C>T | CA373418964 | CLTA,GNE | c.493G>A (p.Glu165Lys) c.223G>A (p.Glu75Lys) c.400G>A (p.Glu134Lys) c.486-16951C>T (n.486-16951C>T) c.385G>A (p.Glu129Lys) | |
| 9 | g.36246248A= | CA1846320811 | CLTA,GNE | c.492T= (p.Ile164=) c.222T= (p.Ile74=) c.399T= (p.Ile133=) c.486-16950A= (n.486-16950A=) c.384T= (p.Ile128=) | |
| 9 | g.36246248A>C | CA373418967 | CLTA,GNE | c.492T>G (p.Ile164Met) c.222T>G (p.Ile74Met) c.399T>G (p.Ile133Met) c.486-16950A>C (n.486-16950A>C) c.384T>G (p.Ile128Met) | |
| 9 | g.36246248A>G | CA464620061 | CLTA,GNE | c.492T>C (p.Ile164=) c.222T>C (p.Ile74=) c.399T>C (p.Ile133=) c.486-16950A>G (n.486-16950A>G) c.384T>C (p.Ile128=) | |
| 9 | g.36246248A>T | CA464620062 | CLTA,GNE | c.492T>A (p.Ile164=) c.222T>A (p.Ile74=) c.399T>A (p.Ile133=) c.486-16950A>T (n.486-16950A>T) c.384T>A (p.Ile128=) | |
| 9 | g.36246249A= | CA1846320830 | CLTA,GNE | c.491T= (p.Ile164=) c.221T= (p.Ile74=) c.398T= (p.Ile133=) c.486-16949A= (n.486-16949A=) c.383T= (p.Ile128=) | |
| 9 | g.36246249A>C | CA373418971 | CLTA,GNE | c.491T>G (p.Ile164Ser) c.221T>G (p.Ile74Ser) c.398T>G (p.Ile133Ser) c.486-16949A>C (n.486-16949A>C) c.383T>G (p.Ile128Ser) | |
| 9 | g.36246249A>G | CA5056731 | CLTA,GNE | c.491T>C (p.Ile164Thr) c.221T>C (p.Ile74Thr) c.398T>C (p.Ile133Thr) c.486-16949A>G (n.486-16949A>G) c.383T>C (p.Ile128Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36246249A>T | CA373418976 | CLTA,GNE | c.491T>A (p.Ile164Asn) c.221T>A (p.Ile74Asn) c.398T>A (p.Ile133Asn) c.486-16949A>T (n.486-16949A>T) c.383T>A (p.Ile128Asn) | |
| 9 | g.36246249_36246250dup | CA1139660956 | CLTA,GNE | c.490_491dup (p.Glu165LeufsTer18) c.220_221dup (p.Glu75LeufsTer18) c.397_398dup (p.Glu134LeufsTer18) c.486-16949_486-16948dup (n.486-16949_486-16948dup) c.382_383dup (p.Glu129LeufsTer18) | ClinVar dbSNP |
| 9 | g.36246250T>A | CA373418989 | CLTA,GNE | c.490A>T (p.Ile164Phe) c.220A>T (p.Ile74Phe) c.397A>T (p.Ile133Phe) c.486-16948T>A (n.486-16948T>A) c.382A>T (p.Ile128Phe) | |
| 9 | g.36246250T>C | CA373418980 | CLTA,GNE | c.490A>G (p.Ile164Val) c.220A>G (p.Ile74Val) c.397A>G (p.Ile133Val) c.486-16948T>C (n.486-16948T>C) c.382A>G (p.Ile128Val) | |
| 9 | g.36246250T>G | CA373418985 | CLTA,GNE | c.490A>C (p.Ile164Leu) c.220A>C (p.Ile74Leu) c.397A>C (p.Ile133Leu) c.486-16948T>G (n.486-16948T>G) c.382A>C (p.Ile128Leu) | |
| 9 | g.36246251G>A | CA464620067 | CLTA,GNE | c.489C>T (p.His163=) c.219C>T (p.His73=) c.396C>T (p.His132=) c.486-16947G>A (n.486-16947G>A) c.381C>T (p.His127=) | dbSNP |
| 9 | g.36246251G>C | CA373418993 | CLTA,GNE | c.489C>G (p.His163Gln) c.219C>G (p.His73Gln) c.396C>G (p.His132Gln) c.486-16947G>C (n.486-16947G>C) c.381C>G (p.His127Gln) | |
| 9 | g.36246251G= | CA1846320835 | CLTA,GNE | c.489C= (p.His163=) c.219C= (p.His73=) c.396C= (p.His132=) c.486-16947G= (n.486-16947G=) c.381C= (p.His127=) | |
| 9 | g.36246251G>T | CA373418995 | CLTA,GNE | c.489C>A (p.His163Gln) c.219C>A (p.His73Gln) c.396C>A (p.His132Gln) c.486-16947G>T (n.486-16947G>T) c.381C>A (p.His127Gln) | gnomAD v4 |
| 9 | g.36246252T>A | CA373419000 | CLTA,GNE | c.488A>T (p.His163Leu) c.218A>T (p.His73Leu) c.395A>T (p.His132Leu) c.486-16946T>A (n.486-16946T>A) c.380A>T (p.His127Leu) | gnomAD v4 |
| 9 | g.36246252T>C | CA373419005 | CLTA,GNE | c.488A>G (p.His163Arg) c.218A>G (p.His73Arg) c.395A>G (p.His132Arg) c.486-16946T>C (n.486-16946T>C) c.380A>G (p.His127Arg) | |
| 9 | g.36246252T>G | CA373419008 | CLTA,GNE | c.488A>C (p.His163Pro) c.218A>C (p.His73Pro) c.395A>C (p.His132Pro) c.486-16946T>G (n.486-16946T>G) c.380A>C (p.His127Pro) | |
| 9 | g.36246253G>A | CA373419018 | CLTA,GNE | c.487C>T (p.His163Tyr) c.217C>T (p.His73Tyr) c.394C>T (p.His132Tyr) c.486-16945G>A (n.486-16945G>A) c.379C>T (p.His127Tyr) | COSMIC COSMIC COSMIC |
| 9 | g.36246253G>C | CA373419012 | CLTA,GNE | c.487C>G (p.His163Asp) c.217C>G (p.His73Asp) c.394C>G (p.His132Asp) c.486-16945G>C (n.486-16945G>C) c.379C>G (p.His127Asp) | |
| 9 | g.36246253G>T | CA373419015 | CLTA,GNE | c.487C>A (p.His163Asn) c.217C>A (p.His73Asn) c.394C>A (p.His132Asn) c.486-16945G>T (n.486-16945G>T) c.379C>A (p.His127Asn) | |
| 9 | g.36246254A>C | CA464620069 | CLTA,GNE | c.486T>G (p.Leu162=) c.216T>G (p.Leu72=) c.393T>G (p.Leu131=) c.486-16944A>C (n.486-16944A>C) c.378T>G (p.Leu126=) | |
| 9 | g.36246254A>G | CA464620070 | CLTA,GNE | c.486T>C (p.Leu162=) c.216T>C (p.Leu72=) c.393T>C (p.Leu131=) c.486-16944A>G (n.486-16944A>G) c.378T>C (p.Leu126=) | |
| 9 | g.36246254A>T | CA464620072 | CLTA,GNE | c.486T>A (p.Leu162=) c.216T>A (p.Leu72=) c.393T>A (p.Leu131=) c.486-16944A>T (n.486-16944A>T) c.378T>A (p.Leu126=) | gnomAD v4 |
| 9 | g.36246255A>C | CA373419025 | CLTA,GNE | c.485T>G (p.Leu162Arg) c.215T>G (p.Leu72Arg) c.392T>G (p.Leu131Arg) c.486-16943A>C (n.486-16943A>C) c.377T>G (p.Leu126Arg) | |
| 9 | g.36246255A>G | CA373419033 | CLTA,GNE | c.485T>C (p.Leu162Pro) c.215T>C (p.Leu72Pro) c.392T>C (p.Leu131Pro) c.486-16943A>G (n.486-16943A>G) c.377T>C (p.Leu126Pro) | ClinVar gnomAD v4 |
| 9 | g.36246255A>T | CA373419036 | CLTA,GNE | c.485T>A (p.Leu162His) c.215T>A (p.Leu72His) c.392T>A (p.Leu131His) c.486-16943A>T (n.486-16943A>T) c.377T>A (p.Leu126His) | |
| 9 | g.36246256G>A | CA373419039 | CLTA,GNE | c.484C>T (p.Leu162Phe) c.214C>T (p.Leu72Phe) c.391C>T (p.Leu131Phe) c.486-16942G>A (n.486-16942G>A) c.376C>T (p.Leu126Phe) | |
| 9 | g.36246256G>C | CA373419042 | CLTA,GNE | c.484C>G (p.Leu162Val) c.214C>G (p.Leu72Val) c.391C>G (p.Leu131Val) c.486-16942G>C (n.486-16942G>C) c.376C>G (p.Leu126Val) | dbSNP gnomAD v4 |
| 9 | g.36246256G= | CA1846320841 | CLTA,GNE | c.484C= (p.Leu162=) c.214C= (p.Leu72=) c.391C= (p.Leu131=) c.486-16942G= (n.486-16942G=) c.376C= (p.Leu126=) | |
| 9 | g.36246256G>T | CA373419046 | CLTA,GNE | c.484C>A (p.Leu162Ile) c.214C>A (p.Leu72Ile) c.391C>A (p.Leu131Ile) c.486-16942G>T (n.486-16942G>T) c.376C>A (p.Leu126Ile) | |
| 9 | g.36246257G>A | CA464619709 | CLTA,GNE | c.483C>T (p.Ile161=) c.213C>T (p.Ile71=) c.390C>T (p.Ile130=) c.486-16941G>A (n.486-16941G>A) c.375C>T (p.Ile125=) | |
| 9 | g.36246257G>C | CA373419048 | CLTA,GNE | c.483C>G (p.Ile161Met) c.213C>G (p.Ile71Met) c.390C>G (p.Ile130Met) c.486-16941G>C (n.486-16941G>C) c.375C>G (p.Ile125Met) | gnomAD v4 |
| 9 | g.36246257G>T | CA464619710 | CLTA,GNE | c.483C>A (p.Ile161=) c.213C>A (p.Ile71=) c.390C>A (p.Ile130=) c.486-16941G>T (n.486-16941G>T) c.375C>A (p.Ile125=) | |
| 9 | g.36246258A>C | CA373419052 | CLTA,GNE | c.482T>G (p.Ile161Ser) c.212T>G (p.Ile71Ser) c.389T>G (p.Ile130Ser) c.486-16940A>C (n.486-16940A>C) c.374T>G (p.Ile125Ser) | |
| 9 | g.36246258A>G | CA373419061 | CLTA,GNE | c.482T>C (p.Ile161Thr) c.212T>C (p.Ile71Thr) c.389T>C (p.Ile130Thr) c.486-16940A>G (n.486-16940A>G) c.374T>C (p.Ile125Thr) | |
| 9 | g.36246258A>T | CA373419063 | CLTA,GNE | c.482T>A (p.Ile161Asn) c.212T>A (p.Ile71Asn) c.389T>A (p.Ile130Asn) c.486-16940A>T (n.486-16940A>T) c.374T>A (p.Ile125Asn) | |
| 9 | g.36246258_36246259del | CA913157669 | CLTA,GNE | c.481_482del (p.Ile161ProfsTer4) c.211_212del (p.Ile71ProfsTer4) c.388_389del (p.Ile130ProfsTer4) c.486-16940_486-16939del (n.486-16940_486-16939del) c.373_374del (p.Ile125ProfsTer4) | |
| 9 | g.36246258_36246259delinsAT | CA1846320849 | CLTA,GNE | c.481_482delinsAT (p.Ile161=) c.211_212delinsAT (p.Ile71=) c.388_389delinsAT (p.Ile130=) c.486-16940_486-16939delinsAT (n.486-16940_486-16939delinsAT) c.373_374delinsAT (p.Ile125=) | |
| 9 | g.36246259T>A | CA373419068 | CLTA,GNE | c.481A>T (p.Ile161Phe) c.211A>T (p.Ile71Phe) c.388A>T (p.Ile130Phe) c.486-16939T>A (n.486-16939T>A) c.373A>T (p.Ile125Phe) | |
| 9 | g.36246259T>C | CA373419071 | CLTA,GNE | c.481A>G (p.Ile161Val) c.211A>G (p.Ile71Val) c.388A>G (p.Ile130Val) c.486-16939T>C (n.486-16939T>C) c.373A>G (p.Ile125Val) | |
| 9 | g.36246259T>G | CA373419074 | CLTA,GNE | c.481A>C (p.Ile161Leu) c.211A>C (p.Ile71Leu) c.388A>C (p.Ile130Leu) c.486-16939T>G (n.486-16939T>G) c.373A>C (p.Ile125Leu) | |
| 9 | g.36246260del | CA588147229 | CLTA,GNE | c.481del (p.Ile161SerfsTer21) c.211del (p.Ile71SerfsTer21) c.388del (p.Ile130SerfsTer21) c.486-16938del (n.486-16938del) c.373del (p.Ile125SerfsTer21) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.36246260T>A | CA464619724 | CLTA,GNE | c.480A>T (p.Arg160=) c.210A>T (p.Arg70=) c.387A>T (p.Arg129=) c.486-16938T>A (n.486-16938T>A) c.372A>T (p.Arg124=) | |
| 9 | g.36246260T>C | CA464619728 | CLTA,GNE | c.480A>G (p.Arg160=) c.210A>G (p.Arg70=) c.387A>G (p.Arg129=) c.486-16938T>C (n.486-16938T>C) c.372A>G (p.Arg124=) | |
| 9 | g.36246260T>G | CA464619730 | CLTA,GNE | c.480A>C (p.Arg160=) c.210A>C (p.Arg70=) c.387A>C (p.Arg129=) c.486-16938T>G (n.486-16938T>G) c.372A>C (p.Arg124=) | dbSNP |
| 9 | g.36246260T= | CA1846320864 | CLTA,GNE | c.480A= (p.Arg160=) c.210A= (p.Arg70=) c.387A= (p.Arg129=) c.486-16938T= (n.486-16938T=) c.372A= (p.Arg124=) | |
| 9 | g.36246261C>A | CA373419076 | CLTA,GNE | c.479G>T (p.Arg160Leu) c.209G>T (p.Arg70Leu) c.386G>T (p.Arg129Leu) c.486-16937C>A (n.486-16937C>A) c.371G>T (p.Arg124Leu) | |
| 9 | g.36246261C= | CA1846320870 | CLTA,GNE | c.479G= (p.Arg160=) c.209G= (p.Arg70=) c.386G= (p.Arg129=) c.486-16937C= (n.486-16937C=) c.371G= (p.Arg124=) | |
| 9 | g.36246261C>G | CA373419085 | CLTA,GNE | c.479G>C (p.Arg160Pro) c.209G>C (p.Arg70Pro) c.386G>C (p.Arg129Pro) c.486-16937C>G (n.486-16937C>G) c.371G>C (p.Arg124Pro) | gnomAD v4 |
| 9 | g.36246261C>T | CA274432 | CLTA,GNE | c.479G>A (p.Arg160Gln) c.209G>A (p.Arg70Gln) c.386G>A (p.Arg129Gln) c.486-16937C>T (n.486-16937C>T) c.371G>A (p.Arg124Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.36246262G>A | CA5056732 | CLTA,GNE | c.478C>T (p.Arg160Ter) c.208C>T (p.Arg70Ter) c.385C>T (p.Arg129Ter) c.486-16936G>A (n.486-16936G>A) c.370C>T (p.Arg124Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36246262G>C | CA373419090 | CLTA,GNE | c.478C>G (p.Arg160Gly) c.208C>G (p.Arg70Gly) c.385C>G (p.Arg129Gly) c.486-16936G>C (n.486-16936G>C) c.370C>G (p.Arg124Gly) | ClinVar |
| 9 | g.36246262G= | CA1846320879 | CLTA,GNE | c.478C= (p.Arg160=) c.208C= (p.Arg70=) c.385C= (p.Arg129=) c.486-16936G= (n.486-16936G=) c.370C= (p.Arg124=) | |
| 9 | g.36246262G>T | CA464619739 | CLTA,GNE | c.478C>A (p.Arg160=) c.208C>A (p.Arg70=) c.385C>A (p.Arg129=) c.486-16936G>T (n.486-16936G>T) c.370C>A (p.Arg124=) | |
| 9 | g.36246263G>A | CA464619741 | CLTA,GNE | c.477C>T (p.Ile159=) c.207C>T (p.Ile69=) c.384C>T (p.Ile128=) c.486-16935G>A (n.486-16935G>A) c.369C>T (p.Ile123=) | |
| 9 | g.36246263G>C | CA373419094 | CLTA,GNE | c.477C>G (p.Ile159Met) c.207C>G (p.Ile69Met) c.384C>G (p.Ile128Met) c.486-16935G>C (n.486-16935G>C) c.369C>G (p.Ile123Met) | |
| 9 | g.36246263G>T | CA464619746 | CLTA,GNE | c.477C>A (p.Ile159=) c.207C>A (p.Ile69=) c.384C>A (p.Ile128=) c.486-16935G>T (n.486-16935G>T) c.369C>A (p.Ile123=) | |
| 9 | g.36246264A>C | CA373419099 | CLTA,GNE | c.476T>G (p.Ile159Ser) c.206T>G (p.Ile69Ser) c.383T>G (p.Ile128Ser) c.486-16934A>C (n.486-16934A>C) c.368T>G (p.Ile123Ser) | |
| 9 | g.36246264A>G | CA373419102 | CLTA,GNE | c.476T>C (p.Ile159Thr) c.206T>C (p.Ile69Thr) c.383T>C (p.Ile128Thr) c.486-16934A>G (n.486-16934A>G) c.368T>C (p.Ile123Thr) | |
| 9 | g.36246264A>T | CA373419106 | CLTA,GNE | c.476T>A (p.Ile159Asn) c.206T>A (p.Ile69Asn) c.383T>A (p.Ile128Asn) c.486-16934A>T (n.486-16934A>T) c.368T>A (p.Ile123Asn) | gnomAD v4 |
| 9 | g.36246264dup | CA2695210605 | CLTA,GNE | c.476dup (p.Arg160ProfsTer6) c.206dup (p.Arg70ProfsTer6) c.383dup (p.Arg129ProfsTer6) c.486-16934dup (n.486-16934dup) c.368dup (p.Arg124ProfsTer6) | |
| 9 | g.36246265T>A | CA373419120 | CLTA,GNE | c.475A>T (p.Ile159Phe) c.205A>T (p.Ile69Phe) c.382A>T (p.Ile128Phe) c.486-16933T>A (n.486-16933T>A) c.367A>T (p.Ile123Phe) | |
| 9 | g.36246265T>C | CA373419112 | CLTA,GNE | c.475A>G (p.Ile159Val) c.205A>G (p.Ile69Val) c.382A>G (p.Ile128Val) c.486-16933T>C (n.486-16933T>C) c.367A>G (p.Ile123Val) | |
| 9 | g.36246265T>G | CA373419116 | CLTA,GNE | c.475A>C (p.Ile159Leu) c.205A>C (p.Ile69Leu) c.382A>C (p.Ile128Leu) c.486-16933T>G (n.486-16933T>G) c.367A>C (p.Ile123Leu) | |
| 9 | g.36246266G>A | CA464619754 | CLTA,GNE | c.474C>T (p.Asn158=) c.204C>T (p.Asn68=) c.381C>T (p.Asn127=) c.486-16932G>A (n.486-16932G>A) c.366C>T (p.Asn122=) | |
| 9 | g.36246266G>C | CA373419123 | CLTA,GNE | c.474C>G (p.Asn158Lys) c.204C>G (p.Asn68Lys) c.381C>G (p.Asn127Lys) c.486-16932G>C (n.486-16932G>C) c.366C>G (p.Asn122Lys) | |
| 9 | g.36246266G>T | CA373419126 | CLTA,GNE | c.474C>A (p.Asn158Lys) c.204C>A (p.Asn68Lys) c.381C>A (p.Asn127Lys) c.486-16932G>T (n.486-16932G>T) c.366C>A (p.Asn122Lys) | |
| 9 | g.36246267T>A | CA373419131 | CLTA,GNE | c.473A>T (p.Asn158Ile) c.203A>T (p.Asn68Ile) c.380A>T (p.Asn127Ile) c.486-16931T>A (n.486-16931T>A) c.365A>T (p.Asn122Ile) | |
| 9 | g.36246267T>C | CA373419133 | CLTA,GNE | c.473A>G (p.Asn158Ser) c.203A>G (p.Asn68Ser) c.380A>G (p.Asn127Ser) c.486-16931T>C (n.486-16931T>C) c.365A>G (p.Asn122Ser) | |
| 9 | g.36246267T>G | CA373419136 | CLTA,GNE | c.473A>C (p.Asn158Thr) c.203A>C (p.Asn68Thr) c.380A>C (p.Asn127Thr) c.486-16931T>G (n.486-16931T>G) c.365A>C (p.Asn122Thr) | |
| 9 | g.36246268T>A | CA373419140 | CLTA,GNE | c.472A>T (p.Asn158Tyr) c.202A>T (p.Asn68Tyr) c.379A>T (p.Asn127Tyr) c.486-16930T>A (n.486-16930T>A) c.364A>T (p.Asn122Tyr) | |
| 9 | g.36246268T>C | CA373419143 | CLTA,GNE | c.472A>G (p.Asn158Asp) c.202A>G (p.Asn68Asp) c.379A>G (p.Asn127Asp) c.486-16930T>C (n.486-16930T>C) c.364A>G (p.Asn122Asp) | |
| 9 | g.36246268T>G | CA373419141 | CLTA,GNE | c.472A>C (p.Asn158His) c.202A>C (p.Asn68His) c.379A>C (p.Asn127His) c.486-16930T>G (n.486-16930T>G) c.364A>C (p.Asn122His) | |
| 9 | g.36246269C>A | CA373419145 | CLTA,GNE | c.471G>T (p.Met157Ile) c.201G>T (p.Met67Ile) c.378G>T (p.Met126Ile) c.486-16929C>A (n.486-16929C>A) c.363G>T (p.Met121Ile) | |
| 9 | g.36246269C>G | CA373419147 | CLTA,GNE | c.471G>C (p.Met157Ile) c.201G>C (p.Met67Ile) c.378G>C (p.Met126Ile) c.486-16929C>G (n.486-16929C>G) c.363G>C (p.Met121Ile) | |
| 9 | g.36246269C>T | CA373419150 | CLTA,GNE | c.471G>A (p.Met157Ile) c.201G>A (p.Met67Ile) c.378G>A (p.Met126Ile) c.486-16929C>T (n.486-16929C>T) c.363G>A (p.Met121Ile) | |
| 9 | g.36246270A>C | CA373419153 | CLTA,GNE | c.470T>G (p.Met157Arg) c.200T>G (p.Met67Arg) c.377T>G (p.Met126Arg) c.486-16928A>C (n.486-16928A>C) c.362T>G (p.Met121Arg) | |
| 9 | g.36246270A>G | CA373419156 | CLTA,GNE | c.470T>C (p.Met157Thr) c.200T>C (p.Met67Thr) c.377T>C (p.Met126Thr) c.486-16928A>G (n.486-16928A>G) c.362T>C (p.Met121Thr) | COSMIC COSMIC COSMIC |
| 9 | g.36246270A>T | CA373419158 | CLTA,GNE | c.470T>A (p.Met157Lys) c.200T>A (p.Met67Lys) c.377T>A (p.Met126Lys) c.486-16928A>T (n.486-16928A>T) c.362T>A (p.Met121Lys) | ClinVar |
| 9 | g.36246271T>A | CA373419163 | CLTA,GNE | c.469A>T (p.Met157Leu) c.199A>T (p.Met67Leu) c.376A>T (p.Met126Leu) c.486-16927T>A (n.486-16927T>A) c.361A>T (p.Met121Leu) | |
| 9 | g.36246271T>C | CA373419165 | CLTA,GNE | c.469A>G (p.Met157Val) c.199A>G (p.Met67Val) c.376A>G (p.Met126Val) c.486-16927T>C (n.486-16927T>C) c.361A>G (p.Met121Val) | |
| 9 | g.36246271T>G | CA373419166 | CLTA,GNE | c.469A>C (p.Met157Leu) c.199A>C (p.Met67Leu) c.376A>C (p.Met126Leu) c.486-16927T>G (n.486-16927T>G) c.361A>C (p.Met121Leu) | |
| 9 | g.36246272C>A | CA373419170 | CLTA,GNE | c.468G>T (p.Leu156Phe) c.198G>T (p.Leu66Phe) c.375G>T (p.Leu125Phe) c.486-16926C>A (n.486-16926C>A) c.360G>T (p.Leu120Phe) | |
| 9 | g.36246272C>G | CA373419172 | CLTA,GNE | c.468G>C (p.Leu156Phe) c.198G>C (p.Leu66Phe) c.375G>C (p.Leu125Phe) c.486-16926C>G (n.486-16926C>G) c.360G>C (p.Leu120Phe) | |
| 9 | g.36246272C>T | CA464619780 | CLTA,GNE | c.468G>A (p.Leu156=) c.198G>A (p.Leu66=) c.375G>A (p.Leu125=) c.486-16926C>T (n.486-16926C>T) c.360G>A (p.Leu120=) | COSMIC COSMIC COSMIC |
| 9 | g.36246273A>C | CA373419174 | CLTA,GNE | c.467T>G (p.Leu156Trp) c.197T>G (p.Leu66Trp) c.374T>G (p.Leu125Trp) c.486-16925A>C (n.486-16925A>C) c.359T>G (p.Leu120Trp) | |
| 9 | g.36246273A>G | CA373419179 | CLTA,GNE | c.467T>C (p.Leu156Ser) c.197T>C (p.Leu66Ser) c.374T>C (p.Leu125Ser) c.486-16925A>G (n.486-16925A>G) c.359T>C (p.Leu120Ser) | |
| 9 | g.36246273A>T | CA373419176 | CLTA,GNE | c.467T>A (p.Leu156Ter) c.197T>A (p.Leu66Ter) c.374T>A (p.Leu125Ter) c.486-16925A>T (n.486-16925A>T) c.359T>A (p.Leu120Ter) | |
| 9 | g.36246274A>C | CA373419182 | CLTA,GNE | c.466T>G (p.Leu156Val) c.196T>G (p.Leu66Val) c.373T>G (p.Leu125Val) c.486-16924A>C (n.486-16924A>C) c.358T>G (p.Leu120Val) | |
| 9 | g.36246274A>G | CA464619785 | CLTA,GNE | c.466T>C (p.Leu156=) c.196T>C (p.Leu66=) c.373T>C (p.Leu125=) c.486-16924A>G (n.486-16924A>G) c.358T>C (p.Leu120=) | |
| 9 | g.36246274A>T | CA373419184 | CLTA,GNE | c.466T>A (p.Leu156Met) c.196T>A (p.Leu66Met) c.373T>A (p.Leu125Met) c.486-16924A>T (n.486-16924A>T) c.358T>A (p.Leu120Met) | |
| 9 | g.36246275G>A | CA464619791 | CLTA,GNE | c.465C>T (p.Ala155=) c.195C>T (p.Ala65=) c.372C>T (p.Ala124=) c.486-16923G>A (n.486-16923G>A) c.357C>T (p.Ala119=) | |
| 9 | g.36246275G>C | CA464619792 | CLTA,GNE | c.465C>G (p.Ala155=) c.195C>G (p.Ala65=) c.372C>G (p.Ala124=) c.486-16923G>C (n.486-16923G>C) c.357C>G (p.Ala119=) | |
| 9 | g.36246275G>T | CA464619794 | CLTA,GNE | c.465C>A (p.Ala155=) c.195C>A (p.Ala65=) c.372C>A (p.Ala124=) c.486-16923G>T (n.486-16923G>T) c.357C>A (p.Ala119=) | |
| 9 | g.36246276G>A | CA373419188 | CLTA,GNE | c.464C>T (p.Ala155Val) c.194C>T (p.Ala65Val) c.371C>T (p.Ala124Val) c.486-16922G>A (n.486-16922G>A) c.356C>T (p.Ala119Val) | |
| 9 | g.36246276G>C | CA373419191 | CLTA,GNE | c.464C>G (p.Ala155Gly) c.194C>G (p.Ala65Gly) c.371C>G (p.Ala124Gly) c.486-16922G>C (n.486-16922G>C) c.356C>G (p.Ala119Gly) | |
| 9 | g.36246276G>T | CA373419192 | CLTA,GNE | c.464C>A (p.Ala155Asp) c.194C>A (p.Ala65Asp) c.371C>A (p.Ala124Asp) c.486-16922G>T (n.486-16922G>T) c.356C>A (p.Ala119Asp) | |
| 9 | g.36246277C>A | CA373419195 | CLTA,GNE | c.463G>T (p.Ala155Ser) c.193G>T (p.Ala65Ser) c.370G>T (p.Ala124Ser) c.486-16921C>A (n.486-16921C>A) c.355G>T (p.Ala119Ser) | |
| 9 | g.36246277C>G | CA373419196 | CLTA,GNE | c.463G>C (p.Ala155Pro) c.193G>C (p.Ala65Pro) c.370G>C (p.Ala124Pro) c.486-16921C>G (n.486-16921C>G) c.355G>C (p.Ala119Pro) | |
| 9 | g.36246277C>T | CA373419198 | CLTA,GNE | c.463G>A (p.Ala155Thr) c.193G>A (p.Ala65Thr) c.370G>A (p.Ala124Thr) c.486-16921C>T (n.486-16921C>T) c.355G>A (p.Ala119Thr) | gnomAD v4 |
| 9 | g.36246278A>C | CA464619799 | CLTA,GNE | c.462T>G (p.Ala154=) c.192T>G (p.Ala64=) c.369T>G (p.Ala123=) c.486-16920A>C (n.486-16920A>C) c.354T>G (p.Ala118=) | |
| 9 | g.36246278A>G | CA464619800 | CLTA,GNE | c.462T>C (p.Ala154=) c.192T>C (p.Ala64=) c.369T>C (p.Ala123=) c.486-16920A>G (n.486-16920A>G) c.354T>C (p.Ala118=) | gnomAD v4 |
| 9 | g.36246278A>T | CA464619801 | CLTA,GNE | c.462T>A (p.Ala154=) c.192T>A (p.Ala64=) c.369T>A (p.Ala123=) c.486-16920A>T (n.486-16920A>T) c.354T>A (p.Ala118=) | |
| 9 | g.36246279G>A | CA373419201 | CLTA,GNE | c.461C>T (p.Ala154Val) c.191C>T (p.Ala64Val) c.368C>T (p.Ala123Val) c.486-16919G>A (n.486-16919G>A) c.353C>T (p.Ala118Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.36246279G>C | CA373419203 | CLTA,GNE | c.461C>G (p.Ala154Gly) c.191C>G (p.Ala64Gly) c.368C>G (p.Ala123Gly) c.486-16919G>C (n.486-16919G>C) c.353C>G (p.Ala118Gly) | |
| 9 | g.36246279G= | CA1846320888 | CLTA,GNE | c.461C= (p.Ala154=) c.191C= (p.Ala64=) c.368C= (p.Ala123=) c.486-16919G= (n.486-16919G=) c.353C= (p.Ala118=) | |
| 9 | g.36246279G>T | CA373419206 | CLTA,GNE | c.461C>A (p.Ala154Asp) c.191C>A (p.Ala64Asp) c.368C>A (p.Ala123Asp) c.486-16919G>T (n.486-16919G>T) c.353C>A (p.Ala118Asp) | |
| 9 | g.36246280C>A | CA373419209 | CLTA,GNE | c.460G>T (p.Ala154Ser) c.190G>T (p.Ala64Ser) c.367G>T (p.Ala123Ser) c.486-16918C>A (n.486-16918C>A) c.352G>T (p.Ala118Ser) | |
| 9 | g.36246280C>G | CA373419212 | CLTA,GNE | c.460G>C (p.Ala154Pro) c.190G>C (p.Ala64Pro) c.367G>C (p.Ala123Pro) c.486-16918C>G (n.486-16918C>G) c.352G>C (p.Ala118Pro) | |
| 9 | g.36246280C>T | CA373419215 | CLTA,GNE | c.460G>A (p.Ala154Thr) c.190G>A (p.Ala64Thr) c.367G>A (p.Ala123Thr) c.486-16918C>T (n.486-16918C>T) c.352G>A (p.Ala118Thr) | |
| 9 | g.36246281A= | CA1846320894 | CLTA,GNE | c.459T= (p.Ser153=) c.189T= (p.Ser63=) c.366T= (p.Ser122=) c.486-16917A= (n.486-16917A=) c.351T= (p.Ser117=) | |
| 9 | g.36246281A>C | CA464619810 | CLTA,GNE | c.459T>G (p.Ser153=) c.189T>G (p.Ser63=) c.366T>G (p.Ser122=) c.486-16917A>C (n.486-16917A>C) c.351T>G (p.Ser117=) | dbSNP |
| 9 | g.36246281A>G | CA464619811 | CLTA,GNE | c.459T>C (p.Ser153=) c.189T>C (p.Ser63=) c.366T>C (p.Ser122=) c.486-16917A>G (n.486-16917A>G) c.351T>C (p.Ser117=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.36246281A>T | CA464619806 | CLTA,GNE | c.459T>A (p.Ser153=) c.189T>A (p.Ser63=) c.366T>A (p.Ser122=) c.486-16917A>T (n.486-16917A>T) c.351T>A (p.Ser117=) | |
| 9 | g.36246282G>A | CA373419225 | CLTA,GNE | c.458C>T (p.Ser153Phe) c.188C>T (p.Ser63Phe) c.365C>T (p.Ser122Phe) c.486-16916G>A (n.486-16916G>A) c.350C>T (p.Ser117Phe) | |
| 9 | g.36246282G>C | CA373419222 | CLTA,GNE | c.458C>G (p.Ser153Cys) c.188C>G (p.Ser63Cys) c.365C>G (p.Ser122Cys) c.486-16916G>C (n.486-16916G>C) c.350C>G (p.Ser117Cys) | |
| 9 | g.36246282G>T | CA373419220 | CLTA,GNE | c.458C>A (p.Ser153Tyr) c.188C>A (p.Ser63Tyr) c.365C>A (p.Ser122Tyr) c.486-16916G>T (n.486-16916G>T) c.350C>A (p.Ser117Tyr) | |
| 9 | g.36246283A>C | CA373419228 | CLTA,GNE | c.457T>G (p.Ser153Ala) c.187T>G (p.Ser63Ala) c.364T>G (p.Ser122Ala) c.486-16915A>C (n.486-16915A>C) c.349T>G (p.Ser117Ala) | |
| 9 | g.36246283A>G | CA373419230 | CLTA,GNE | c.457T>C (p.Ser153Pro) c.187T>C (p.Ser63Pro) c.364T>C (p.Ser122Pro) c.486-16915A>G (n.486-16915A>G) c.349T>C (p.Ser117Pro) | gnomAD v4 |
| 9 | g.36246283A>T | CA373419233 | CLTA,GNE | c.457T>A (p.Ser153Thr) c.187T>A (p.Ser63Thr) c.364T>A (p.Ser122Thr) c.486-16915A>T (n.486-16915A>T) c.349T>A (p.Ser117Thr) | |
| 9 | g.36246284T>A | CA464619816 | CLTA,GNE | c.456A>T (p.Thr152=) c.186A>T (p.Thr62=) c.363A>T (p.Thr121=) c.486-16914T>A (n.486-16914T>A) c.348A>T (p.Thr116=) | |
| 9 | g.36246284T>C | CA464619819 | CLTA,GNE | c.456A>G (p.Thr152=) c.186A>G (p.Thr62=) c.363A>G (p.Thr121=) c.486-16914T>C (n.486-16914T>C) c.348A>G (p.Thr116=) | ClinVar |
| 9 | g.36246284T>G | CA464619821 | CLTA,GNE | c.456A>C (p.Thr152=) c.186A>C (p.Thr62=) c.363A>C (p.Thr121=) c.486-16914T>G (n.486-16914T>G) c.348A>C (p.Thr116=) | |
| 9 | g.36246285G>A | CA373419237 | CLTA,GNE | c.455C>T (p.Thr152Ile) c.185C>T (p.Thr62Ile) c.362C>T (p.Thr121Ile) c.486-16913G>A (n.486-16913G>A) c.347C>T (p.Thr116Ile) | |
| 9 | g.36246285G>C | CA373419240 | CLTA,GNE | c.455C>G (p.Thr152Arg) c.185C>G (p.Thr62Arg) c.362C>G (p.Thr121Arg) c.486-16913G>C (n.486-16913G>C) c.347C>G (p.Thr116Arg) | |
| 9 | g.36246285G>T | CA373419243 | CLTA,GNE | c.455C>A (p.Thr152Lys) c.185C>A (p.Thr62Lys) c.362C>A (p.Thr121Lys) c.486-16913G>T (n.486-16913G>T) c.347C>A (p.Thr116Lys) | |
| 9 | g.36246285dup | CA2695210606 | CLTA,GNE | c.455dup (p.Ser153IlefsTer13) c.185dup (p.Ser63IlefsTer13) c.362dup (p.Ser122IlefsTer13) c.486-16913dup (n.486-16913dup) c.347dup (p.Ser117IlefsTer13) | |
| 9 | g.36246286T>A | CA373419247 | CLTA,GNE | c.454A>T (p.Thr152Ser) c.184A>T (p.Thr62Ser) c.361A>T (p.Thr121Ser) c.486-16912T>A (n.486-16912T>A) c.346A>T (p.Thr116Ser) | |
| 9 | g.36246286T>C | CA373419249 | CLTA,GNE | c.454A>G (p.Thr152Ala) c.184A>G (p.Thr62Ala) c.361A>G (p.Thr121Ala) c.486-16912T>C (n.486-16912T>C) c.346A>G (p.Thr116Ala) | |
| 9 | g.36246286T>G | CA373419252 | CLTA,GNE | c.454A>C (p.Thr152Pro) c.184A>C (p.Thr62Pro) c.361A>C (p.Thr121Pro) c.486-16912T>G (n.486-16912T>G) c.346A>C (p.Thr116Pro) | |
| 9 | g.36246287G>A | CA464619831 | CLTA,GNE | c.453C>T (p.Ala151=) c.183C>T (p.Ala61=) c.360C>T (p.Ala120=) c.486-16911G>A (n.486-16911G>A) c.345C>T (p.Ala115=) | |
| 9 | g.36246287G>C | CA464619830 | CLTA,GNE | c.453C>G (p.Ala151=) c.183C>G (p.Ala61=) c.360C>G (p.Ala120=) c.486-16911G>C (n.486-16911G>C) c.345C>G (p.Ala115=) | |
| 9 | g.36246287G>T | CA464619829 | CLTA,GNE | c.453C>A (p.Ala151=) c.183C>A (p.Ala61=) c.360C>A (p.Ala120=) c.486-16911G>T (n.486-16911G>T) c.345C>A (p.Ala115=) | |
| 9 | g.36246288G>A | CA373419256 | CLTA,GNE | c.452C>T (p.Ala151Val) c.182C>T (p.Ala61Val) c.359C>T (p.Ala120Val) c.486-16910G>A (n.486-16910G>A) c.344C>T (p.Ala115Val) | |
| 9 | g.36246288G>C | CA373419258 | CLTA,GNE | c.452C>G (p.Ala151Gly) c.182C>G (p.Ala61Gly) c.359C>G (p.Ala120Gly) c.486-16910G>C (n.486-16910G>C) c.344C>G (p.Ala115Gly) | |
| 9 | g.36246288G>T | CA373419261 | CLTA,GNE | c.452C>A (p.Ala151Asp) c.182C>A (p.Ala61Asp) c.359C>A (p.Ala120Asp) c.486-16910G>T (n.486-16910G>T) c.344C>A (p.Ala115Asp) | |
| 9 | g.36246289C>A | CA373419270 | CLTA,GNE | c.451G>T (p.Ala151Ser) c.181G>T (p.Ala61Ser) c.358G>T (p.Ala120Ser) c.486-16909C>A (n.486-16909C>A) c.343G>T (p.Ala115Ser) | |
| 9 | g.36246289C>G | CA373419267 | CLTA,GNE | c.451G>C (p.Ala151Pro) c.181G>C (p.Ala61Pro) c.358G>C (p.Ala120Pro) c.486-16909C>G (n.486-16909C>G) c.343G>C (p.Ala115Pro) | |
| 9 | g.36246289C>T | CA373419265 | CLTA,GNE | c.451G>A (p.Ala151Thr) c.181G>A (p.Ala61Thr) c.358G>A (p.Ala120Thr) c.486-16909C>T (n.486-16909C>T) c.343G>A (p.Ala115Thr) | |
| 9 | g.36246290dup | CA2839959423 | CLTA,GNE | c.451dup (p.Ala151GlyfsTer15) c.181dup (p.Ala61GlyfsTer15) c.358dup (p.Ala120GlyfsTer15) c.486-16908dup (n.486-16908dup) c.343dup (p.Ala115GlyfsTer15) | |
| 9 | g.36246290C>A | CA464619841 | CLTA,GNE | c.450G>T (p.Leu150=) c.180G>T (p.Leu60=) c.357G>T (p.Leu119=) c.486-16908C>A (n.486-16908C>A) c.342G>T (p.Leu114=) | |
| 9 | g.36246290C>G | CA464619842 | CLTA,GNE | c.450G>C (p.Leu150=) c.180G>C (p.Leu60=) c.357G>C (p.Leu119=) c.486-16908C>G (n.486-16908C>G) c.342G>C (p.Leu114=) | |
| 9 | g.36246290C>T | CA464619843 | CLTA,GNE | c.450G>A (p.Leu150=) c.180G>A (p.Leu60=) c.357G>A (p.Leu119=) c.486-16908C>T (n.486-16908C>T) c.342G>A (p.Leu114=) | |
| 9 | g.36246291A>C | CA373419274 | CLTA,GNE | c.449T>G (p.Leu150Arg) c.179T>G (p.Leu60Arg) c.356T>G (p.Leu119Arg) c.486-16907A>C (n.486-16907A>C) c.341T>G (p.Leu114Arg) | |
| 9 | g.36246291A>G | CA373419275 | CLTA,GNE | c.449T>C (p.Leu150Pro) c.179T>C (p.Leu60Pro) c.356T>C (p.Leu119Pro) c.486-16907A>G (n.486-16907A>G) c.341T>C (p.Leu114Pro) | |
| 9 | g.36246291A>T | CA373419276 | CLTA,GNE | c.449T>A (p.Leu150Gln) c.179T>A (p.Leu60Gln) c.356T>A (p.Leu119Gln) c.486-16907A>T (n.486-16907A>T) c.341T>A (p.Leu114Gln) | |
| 9 | g.36246292G>A | CA464619851 | CLTA,GNE | c.448C>T (p.Leu150=) c.178C>T (p.Leu60=) c.355C>T (p.Leu119=) c.486-16906G>A (n.486-16906G>A) c.340C>T (p.Leu114=) | |
| 9 | g.36246292G>C | CA373419277 | CLTA,GNE | c.448C>G (p.Leu150Val) c.178C>G (p.Leu60Val) c.355C>G (p.Leu119Val) c.486-16906G>C (n.486-16906G>C) c.340C>G (p.Leu114Val) | gnomAD v4 |
| 9 | g.36246292G>T | CA373419278 | CLTA,GNE | c.448C>A (p.Leu150Met) c.178C>A (p.Leu60Met) c.355C>A (p.Leu119Met) c.486-16906G>T (n.486-16906G>T) c.340C>A (p.Leu114Met) | |
| 9 | g.36246293A>C | CA464619853 | CLTA,GNE | c.447T>G (p.Ala149=) c.177T>G (p.Ala59=) c.354T>G (p.Ala118=) c.486-16905A>C (n.486-16905A>C) c.339T>G (p.Ala113=) | |
| 9 | g.36246293A>G | CA464619854 | CLTA,GNE | c.447T>C (p.Ala149=) c.177T>C (p.Ala59=) c.354T>C (p.Ala118=) c.486-16905A>G (n.486-16905A>G) c.339T>C (p.Ala113=) | |
| 9 | g.36246293A>T | CA464619855 | CLTA,GNE | c.447T>A (p.Ala149=) c.177T>A (p.Ala59=) c.354T>A (p.Ala118=) c.486-16905A>T (n.486-16905A>T) c.339T>A (p.Ala113=) | |
| 9 | g.36246294G>A | CA373419279 | CLTA,GNE | c.446C>T (p.Ala149Val) c.176C>T (p.Ala59Val) c.353C>T (p.Ala118Val) c.486-16904G>A (n.486-16904G>A) c.338C>T (p.Ala113Val) | ClinVar |
| 9 | g.36246294G>C | CA373419280 | CLTA,GNE | c.446C>G (p.Ala149Gly) c.176C>G (p.Ala59Gly) c.353C>G (p.Ala118Gly) c.486-16904G>C (n.486-16904G>C) c.338C>G (p.Ala113Gly) | |
| 9 | g.36246294G>T | CA373419281 | CLTA,GNE | c.446C>A (p.Ala149Asp) c.176C>A (p.Ala59Asp) c.353C>A (p.Ala118Asp) c.486-16904G>T (n.486-16904G>T) c.338C>A (p.Ala113Asp) | |
| 9 | g.36246295C>A | CA373419282 | CLTA,GNE | c.445G>T (p.Ala149Ser) c.175G>T (p.Ala59Ser) c.352G>T (p.Ala118Ser) c.486-16903C>A (n.486-16903C>A) c.337G>T (p.Ala113Ser) | |
| 9 | g.36246295C>G | CA373419283 | CLTA,GNE | c.445G>C (p.Ala149Pro) c.175G>C (p.Ala59Pro) c.352G>C (p.Ala118Pro) c.486-16903C>G (n.486-16903C>G) c.337G>C (p.Ala113Pro) | |
| 9 | g.36246295C>T | CA373419284 | CLTA,GNE | c.445G>A (p.Ala149Thr) c.175G>A (p.Ala59Thr) c.352G>A (p.Ala118Thr) c.486-16903C>T (n.486-16903C>T) c.337G>A (p.Ala113Thr) | |
| 9 | g.36246296C>A | CA464619859 | CLTA,GNE | c.444G>T (p.Leu148=) c.174G>T (p.Leu58=) c.351G>T (p.Leu117=) c.486-16902C>A (n.486-16902C>A) c.336G>T (p.Leu112=) | |
| 9 | g.36246296C>G | CA464619861 | CLTA,GNE | c.444G>C (p.Leu148=) c.174G>C (p.Leu58=) c.351G>C (p.Leu117=) c.486-16902C>G (n.486-16902C>G) c.336G>C (p.Leu112=) | |
| 9 | g.36246296C>T | CA464619862 | CLTA,GNE | c.444G>A (p.Leu148=) c.174G>A (p.Leu58=) c.351G>A (p.Leu117=) c.486-16902C>T (n.486-16902C>T) c.336G>A (p.Leu112=) |