| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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=) |