| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237381217_237381941delinsGTTGC | CA2580066112 | COL6A3 | c.695-442_977delinsGCAAC c.1313-442_1595delinsGCAAC c.92-442_374delinsGCAAC c.92-4597_92-3873delinsGCAAC (n.92-4597_92-3873delinsGCAAC) | ClinVar |
| 2 | g.237381319T>A | CA351217889 | COL6A3 | c.875A>T (p.Tyr292Phe) n.266A>T c.1493A>T (p.Tyr498Phe) c.272A>T (p.Tyr91Phe) c.92-3975A>T (n.92-3975A>T) | |
| 2 | g.237381319T>C | CA351217891 | COL6A3 | c.875A>G (p.Tyr292Cys) n.266A>G c.1493A>G (p.Tyr498Cys) c.272A>G (p.Tyr91Cys) c.92-3975A>G (n.92-3975A>G) | |
| 2 | g.237381319T>G | CA351217894 | COL6A3 | c.875A>C (p.Tyr292Ser) n.266A>C c.1493A>C (p.Tyr498Ser) c.272A>C (p.Tyr91Ser) c.92-3975A>C (n.92-3975A>C) | |
| 2 | g.237381320A= | CA1337627354 | COL6A3 | c.874T= (p.Tyr292=) n.265T= c.1492T= (p.Tyr498=) c.271T= (p.Tyr91=) c.92-3976T= (n.92-3976T=) | |
| 2 | g.237381320A>C | CA351217896 | COL6A3 | c.874T>G (p.Tyr292Asp) n.265T>G c.1492T>G (p.Tyr498Asp) c.271T>G (p.Tyr91Asp) c.92-3976T>G (n.92-3976T>G) | |
| 2 | g.237381320A>G | CA351217897 | COL6A3 | c.874T>C (p.Tyr292His) n.265T>C c.1492T>C (p.Tyr498His) c.271T>C (p.Tyr91His) c.92-3976T>C (n.92-3976T>C) | ClinVar dbSNP |
| 2 | g.237381320A>T | CA351217898 | COL6A3 | c.874T>A (p.Tyr292Asn) n.265T>A c.1492T>A (p.Tyr498Asn) c.271T>A (p.Tyr91Asn) c.92-3976T>A (n.92-3976T>A) | |
| 2 | g.237381321A>C | CA351217901 | COL6A3 | c.873T>G (p.Phe291Leu) n.264T>G c.1491T>G (p.Phe497Leu) c.270T>G (p.Phe90Leu) c.92-3977T>G (n.92-3977T>G) | |
| 2 | g.237381321A>G | CA431712778 | COL6A3 | c.873T>C (p.Phe291=) n.264T>C c.1491T>C (p.Phe497=) c.270T>C (p.Phe90=) c.92-3977T>C (n.92-3977T>C) | |
| 2 | g.237381321A>T | CA351217903 | COL6A3 | c.873T>A (p.Phe291Leu) n.264T>A c.1491T>A (p.Phe497Leu) c.270T>A (p.Phe90Leu) c.92-3977T>A (n.92-3977T>A) | |
| 2 | g.237381322A>C | CA351217905 | COL6A3 | c.872T>G (p.Phe291Cys) n.263T>G c.1490T>G (p.Phe497Cys) c.269T>G (p.Phe90Cys) c.92-3978T>G (n.92-3978T>G) | |
| 2 | g.237381322A>G | CA351217908 | COL6A3 | c.872T>C (p.Phe291Ser) n.263T>C c.1490T>C (p.Phe497Ser) c.269T>C (p.Phe90Ser) c.92-3978T>C (n.92-3978T>C) | |
| 2 | g.237381322A>T | CA351217910 | COL6A3 | c.872T>A (p.Phe291Tyr) n.263T>A c.1490T>A (p.Phe497Tyr) c.269T>A (p.Phe90Tyr) c.92-3978T>A (n.92-3978T>A) | |
| 2 | g.237381323A>C | CA351217912 | COL6A3 | c.871T>G (p.Phe291Val) n.262T>G c.1489T>G (p.Phe497Val) c.268T>G (p.Phe90Val) c.92-3979T>G (n.92-3979T>G) | |
| 2 | g.237381323A>G | CA351217915 | COL6A3 | c.871T>C (p.Phe291Leu) n.262T>C c.1489T>C (p.Phe497Leu) c.268T>C (p.Phe90Leu) c.92-3979T>C (n.92-3979T>C) | |
| 2 | g.237381323A>T | CA351217917 | COL6A3 | c.871T>A (p.Phe291Ile) n.262T>A c.1489T>A (p.Phe497Ile) c.268T>A (p.Phe90Ile) c.92-3979T>A (n.92-3979T>A) | |
| 2 | g.237381324T>A | CA351217927 | COL6A3 | c.870A>T (p.Glu290Asp) n.261A>T c.1488A>T (p.Glu496Asp) c.267A>T (p.Glu89Asp) c.92-3980A>T (n.92-3980A>T) | |
| 2 | g.237381324T>C | CA431712783 | COL6A3 | c.870A>G (p.Glu290=) n.261A>G c.1488A>G (p.Glu496=) c.267A>G (p.Glu89=) c.92-3980A>G (n.92-3980A>G) | gnomAD v4 |
| 2 | g.237381324T>G | CA351217919 | COL6A3 | c.870A>C (p.Glu290Asp) n.261A>C c.1488A>C (p.Glu496Asp) c.267A>C (p.Glu89Asp) c.92-3980A>C (n.92-3980A>C) | |
| 2 | g.237381325T>A | CA351217931 | COL6A3 | c.869A>T (p.Glu290Val) n.260A>T c.1487A>T (p.Glu496Val) c.266A>T (p.Glu89Val) c.92-3981A>T (n.92-3981A>T) | |
| 2 | g.237381325T>C | CA351217933 | COL6A3 | c.869A>G (p.Glu290Gly) n.260A>G c.1487A>G (p.Glu496Gly) c.266A>G (p.Glu89Gly) c.92-3981A>G (n.92-3981A>G) | |
| 2 | g.237381325T>G | CA351217934 | COL6A3 | c.869A>C (p.Glu290Ala) n.260A>C c.1487A>C (p.Glu496Ala) c.266A>C (p.Glu89Ala) c.92-3981A>C (n.92-3981A>C) | |
| 2 | g.237381326C>A | CA351217936 | COL6A3 | c.868G>T (p.Glu290Ter) n.259G>T c.1486G>T (p.Glu496Ter) c.265G>T (p.Glu89Ter) c.92-3982G>T (n.92-3982G>T) | |
| 2 | g.237381326C>G | CA351217938 | COL6A3 | c.868G>C (p.Glu290Gln) n.259G>C c.1486G>C (p.Glu496Gln) c.265G>C (p.Glu89Gln) c.92-3982G>C (n.92-3982G>C) | |
| 2 | g.237381326C>T | CA351217940 | COL6A3 | c.868G>A (p.Glu290Lys) n.259G>A c.1486G>A (p.Glu496Lys) c.265G>A (p.Glu89Lys) c.92-3982G>A (n.92-3982G>A) | |
| 2 | g.237381327A>C | CA431712791 | COL6A3 | c.867T>G (p.Pro289=) n.258T>G c.1485T>G (p.Pro495=) c.264T>G (p.Pro88=) c.92-3983T>G (n.92-3983T>G) | |
| 2 | g.237381327A>G | CA431712788 | COL6A3 | c.867T>C (p.Pro289=) n.258T>C c.1485T>C (p.Pro495=) c.264T>C (p.Pro88=) c.92-3983T>C (n.92-3983T>C) | |
| 2 | g.237381327A>T | CA431712790 | COL6A3 | c.867T>A (p.Pro289=) n.258T>A c.1485T>A (p.Pro495=) c.264T>A (p.Pro88=) c.92-3983T>A (n.92-3983T>A) | |
| 2 | g.237381328G>A | CA351217944 | COL6A3 | c.866C>T (p.Pro289Leu) n.257C>T c.1484C>T (p.Pro495Leu) c.263C>T (p.Pro88Leu) c.92-3984C>T (n.92-3984C>T) | |
| 2 | g.237381328G>C | CA351217941 | COL6A3 | c.866C>G (p.Pro289Arg) n.257C>G c.1484C>G (p.Pro495Arg) c.263C>G (p.Pro88Arg) c.92-3984C>G (n.92-3984C>G) | gnomAD v4 |
| 2 | g.237381328G>T | CA351217943 | COL6A3 | c.866C>A (p.Pro289His) n.257C>A c.1484C>A (p.Pro495His) c.263C>A (p.Pro88His) c.92-3984C>A (n.92-3984C>A) | |
| 2 | g.237381329G>A | CA351217948 | COL6A3 | c.865C>T (p.Pro289Ser) n.256C>T c.1483C>T (p.Pro495Ser) c.262C>T (p.Pro88Ser) c.92-3985C>T (n.92-3985C>T) | |
| 2 | g.237381329G>C | CA351217949 | COL6A3 | c.865C>G (p.Pro289Ala) n.256C>G c.1483C>G (p.Pro495Ala) c.262C>G (p.Pro88Ala) c.92-3985C>G (n.92-3985C>G) | gnomAD v4 |
| 2 | g.237381329G>T | CA351217951 | COL6A3 | c.865C>A (p.Pro289Thr) n.256C>A c.1483C>A (p.Pro495Thr) c.262C>A (p.Pro88Thr) c.92-3985C>A (n.92-3985C>A) | ClinVar |
| 2 | g.237381330C>A | CA351217953 | COL6A3 | c.864G>T (p.Arg288Ser) n.255G>T c.1482G>T (p.Arg494Ser) c.261G>T (p.Arg87Ser) c.92-3986G>T (n.92-3986G>T) | |
| 2 | g.237381330C= | CA1337627355 | COL6A3 | c.864G= (p.Arg288=) n.255G= c.1482G= (p.Arg494=) c.261G= (p.Arg87=) c.92-3986G= (n.92-3986G=) | |
| 2 | g.237381330C>G | CA351217954 | COL6A3 | c.864G>C (p.Arg288Ser) n.255G>C c.1482G>C (p.Arg494Ser) c.261G>C (p.Arg87Ser) c.92-3986G>C (n.92-3986G>C) | |
| 2 | g.237381330C>T | CA431712800 | COL6A3 | c.864G>A (p.Arg288=) n.255G>A c.1482G>A (p.Arg494=) c.261G>A (p.Arg87=) c.92-3986G>A (n.92-3986G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237381331C>A | CA351217955 | COL6A3 | c.863G>T (p.Arg288Met) n.254G>T c.1481G>T (p.Arg494Met) c.260G>T (p.Arg87Met) c.92-3987G>T (n.92-3987G>T) | |
| 2 | g.237381331C>G | CA351217957 | COL6A3 | c.863G>C (p.Arg288Thr) n.254G>C c.1481G>C (p.Arg494Thr) c.260G>C (p.Arg87Thr) c.92-3987G>C (n.92-3987G>C) | |
| 2 | g.237381331C>T | CA351217956 | COL6A3 | c.863G>A (p.Arg288Lys) n.254G>A c.1481G>A (p.Arg494Lys) c.260G>A (p.Arg87Lys) c.92-3987G>A (n.92-3987G>A) | gnomAD v4 |
| 2 | g.237381332T>A | CA351217959 | COL6A3 | c.862A>T (p.Arg288Trp) n.253A>T c.1480A>T (p.Arg494Trp) c.259A>T (p.Arg87Trp) c.92-3988A>T (n.92-3988A>T) | |
| 2 | g.237381332T>C | CA351217964 | COL6A3 | c.862A>G (p.Arg288Gly) n.253A>G c.1480A>G (p.Arg494Gly) c.259A>G (p.Arg87Gly) c.92-3988A>G (n.92-3988A>G) | |
| 2 | g.237381332T>G | CA431712804 | COL6A3 | c.862A>C (p.Arg288=) n.253A>C c.1480A>C (p.Arg494=) c.259A>C (p.Arg87=) c.92-3988A>C (n.92-3988A>C) | |
| 2 | g.237381333C>A | CA431712807 | COL6A3 | c.861G>T (p.Val287=) n.252G>T c.1479G>T (p.Val493=) c.258G>T (p.Val86=) c.92-3989G>T (n.92-3989G>T) | |
| 2 | g.237381333C= | CA1337627356 | COL6A3 | c.861G= (p.Val287=) n.252G= c.1479G= (p.Val493=) c.258G= (p.Val86=) c.92-3989G= (n.92-3989G=) | |
| 2 | g.237381333C>G | CA431712808 | COL6A3 | c.861G>C (p.Val287=) n.252G>C c.1479G>C (p.Val493=) c.258G>C (p.Val86=) c.92-3989G>C (n.92-3989G>C) | |
| 2 | g.237381333C>T | CA2189619 | COL6A3 | c.861G>A (p.Val287=) n.252G>A c.1479G>A (p.Val493=) c.258G>A (p.Val86=) c.92-3989G>A (n.92-3989G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237381334A= | CA1337627357 | COL6A3 | c.860T= (p.Val287=) n.251T= c.1478T= (p.Val493=) c.257T= (p.Val86=) c.92-3990T= (n.92-3990T=) |