Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
6 | g.7582934_7587655del | CA2695202641 | |||
6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
6 | g.7585471G>A | CA362694674 | DSP | c.6880G>A (p.Val2294Ile) c.8209G>A (p.Val2737Ile) c.6412G>A (p.Val2138Ile) | |
6 | g.7585471G>C | CA051765 | DSP | c.6880G>C (p.Val2294Leu) c.8209G>C (p.Val2737Leu) c.6412G>C (p.Val2138Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585471G= | CA1608614566 | DSP | c.6880G= (p.Val2294=) c.8209G= (p.Val2737=) c.6412G= (p.Val2138=) | |
6 | g.7585471G>T | CA362694675 | DSP | c.6880G>T (p.Val2294Phe) c.8209G>T (p.Val2737Phe) c.6412G>T (p.Val2138Phe) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585472T>A | CA362694676 | DSP | c.6881T>A (p.Val2294Asp) c.8210T>A (p.Val2737Asp) c.6413T>A (p.Val2138Asp) | |
6 | g.7585472T>C | CA007431 | DSP | c.6881T>C (p.Val2294Ala) c.8210T>C (p.Val2737Ala) c.6413T>C (p.Val2138Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585472T>G | CA362694677 | DSP | c.6881T>G (p.Val2294Gly) c.8210T>G (p.Val2737Gly) c.6413T>G (p.Val2138Gly) | |
6 | g.7585472T= | CA1608614573 | DSP | c.6881T= (p.Val2294=) c.8210T= (p.Val2737=) c.6413T= (p.Val2138=) | |
6 | g.7585473T>A | CA448717252 | DSP | c.6882T>A (p.Val2294=) c.8211T>A (p.Val2737=) c.6414T>A (p.Val2138=) | |
6 | g.7585473T>C | CA448717253 | DSP | c.6882T>C (p.Val2294=) c.8211T>C (p.Val2737=) c.6414T>C (p.Val2138=) | |
6 | g.7585473T>G | CA051774 | DSP | c.6882T>G (p.Val2294=) c.8211T>G (p.Val2737=) c.6414T>G (p.Val2138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585473T= | CA1608614577 | DSP | c.6882T= (p.Val2294=) c.8211T= (p.Val2737=) c.6414T= (p.Val2138=) | |
6 | g.7585474G>A | CA362694680 | DSP | c.6883G>A (p.Asp2295Asn) c.8212G>A (p.Asp2738Asn) c.6415G>A (p.Asp2139Asn) | gnomAD v4 |
6 | g.7585474G>C | CA362694678 | DSP | c.6883G>C (p.Asp2295His) c.8212G>C (p.Asp2738His) c.6415G>C (p.Asp2139His) | |
6 | g.7585474G>T | CA362694679 | DSP | c.6883G>T (p.Asp2295Tyr) c.8212G>T (p.Asp2738Tyr) c.6415G>T (p.Asp2139Tyr) | |
6 | g.7585475A>C | CA362694681 | DSP | c.6884A>C (p.Asp2295Ala) c.8213A>C (p.Asp2738Ala) c.6416A>C (p.Asp2139Ala) | |
6 | g.7585475A>G | CA362694682 | DSP | c.6884A>G (p.Asp2295Gly) c.8213A>G (p.Asp2738Gly) c.6416A>G (p.Asp2139Gly) | ClinVar dbSNP |
6 | g.7585475A>T | CA362694683 | DSP | c.6884A>T (p.Asp2295Val) c.8213A>T (p.Asp2738Val) c.6416A>T (p.Asp2139Val) | |
6 | g.7585476C>A | CA362694684 | DSP | c.6885C>A (p.Asp2295Glu) c.8214C>A (p.Asp2738Glu) c.6417C>A (p.Asp2139Glu) | |
6 | g.7585476C= | CA1608614580 | DSP | c.6885C= (p.Asp2295=) c.8214C= (p.Asp2738=) c.6417C= (p.Asp2139=) | |
6 | g.7585476C>G | CA362694685 | DSP | c.6885C>G (p.Asp2295Glu) c.8214C>G (p.Asp2738Glu) c.6417C>G (p.Asp2139Glu) | |
6 | g.7585476C>T | CA051785 | DSP | c.6885C>T (p.Asp2295=) c.8214C>T (p.Asp2738=) c.6417C>T (p.Asp2139=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585477C>A | CA362694686 | DSP | c.6886C>A (p.Pro2296Thr) c.8215C>A (p.Pro2739Thr) c.6418C>A (p.Pro2140Thr) | |
6 | g.7585477C= | CA1608614584 | DSP | c.6886C= (p.Pro2296=) c.8215C= (p.Pro2739=) c.6418C= (p.Pro2140=) | |
6 | g.7585477C>G | CA362694687 | DSP | c.6886C>G (p.Pro2296Ala) c.8215C>G (p.Pro2739Ala) c.6418C>G (p.Pro2140Ala) | |
6 | g.7585477C>T | CA362694688 | DSP | c.6886C>T (p.Pro2296Ser) c.8215C>T (p.Pro2739Ser) c.6418C>T (p.Pro2140Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585478C>A | CA362694690 | DSP | c.6887C>A (p.Pro2296Gln) c.8216C>A (p.Pro2739Gln) c.6419C>A (p.Pro2140Gln) | |
6 | g.7585478C= | CA1608614590 | DSP | c.6887C= (p.Pro2296=) c.8216C= (p.Pro2739=) c.6419C= (p.Pro2140=) | |
6 | g.7585478C>G | CA362694689 | DSP | c.6887C>G (p.Pro2296Arg) c.8216C>G (p.Pro2739Arg) c.6419C>G (p.Pro2140Arg) | ClinVar dbSNP |
6 | g.7585478C>T | CA051795 | DSP | c.6887C>T (p.Pro2296Leu) c.8216C>T (p.Pro2739Leu) c.6419C>T (p.Pro2140Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585479G>A | CA051809 | DSP | c.6888G>A (p.Pro2296=) c.8217G>A (p.Pro2739=) c.6420G>A (p.Pro2140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585479G>C | CA448717263 | DSP | c.6888G>C (p.Pro2296=) c.8217G>C (p.Pro2739=) c.6420G>C (p.Pro2140=) | |
6 | g.7585479G= | CA1608614611 | DSP | c.6888G= (p.Pro2296=) c.8217G= (p.Pro2739=) c.6420G= (p.Pro2140=) | |
6 | g.7585479G>T | CA448717264 | DSP | c.6888G>T (p.Pro2296=) c.8217G>T (p.Pro2739=) c.6420G>T (p.Pro2140=) | |
6 | g.7585480G>A | CA362694691 | DSP | c.6889G>A (p.Glu2297Lys) c.8218G>A (p.Glu2740Lys) c.6421G>A (p.Glu2141Lys) | |
6 | g.7585480G>C | CA362694692 | DSP | c.6889G>C (p.Glu2297Gln) c.8218G>C (p.Glu2740Gln) c.6421G>C (p.Glu2141Gln) | ClinVar dbSNP |
6 | g.7585480G= | CA1608614614 | DSP | c.6889G= (p.Glu2297=) c.8218G= (p.Glu2740=) c.6421G= (p.Glu2141=) | |
6 | g.7585480G>T | CA362694693 | DSP | c.6889G>T (p.Glu2297Ter) c.8218G>T (p.Glu2740Ter) c.6421G>T (p.Glu2141Ter) | |
6 | g.7585481A>C | CA362694694 | DSP | c.6890A>C (p.Glu2297Ala) c.8219A>C (p.Glu2740Ala) c.6422A>C (p.Glu2141Ala) | |
6 | g.7585481A>G | CA362694695 | DSP | c.6890A>G (p.Glu2297Gly) c.8219A>G (p.Glu2740Gly) c.6422A>G (p.Glu2141Gly) | |
6 | g.7585481A>T | CA362694696 | DSP | c.6890A>T (p.Glu2297Val) c.8219A>T (p.Glu2740Val) c.6422A>T (p.Glu2141Val) | |
6 | g.7585482A>C | CA362694697 | DSP | c.6891A>C (p.Glu2297Asp) c.8220A>C (p.Glu2740Asp) c.6423A>C (p.Glu2141Asp) | |
6 | g.7585482A>G | CA448717271 | DSP | c.6891A>G (p.Glu2297=) c.8220A>G (p.Glu2740=) c.6423A>G (p.Glu2141=) | |
6 | g.7585482A>T | CA362694698 | DSP | c.6891A>T (p.Glu2297Asp) c.8220A>T (p.Glu2740Asp) c.6423A>T (p.Glu2141Asp) | |
6 | g.7585483G>A | CA051822 | DSP | c.6892G>A (p.Val2298Met) c.8221G>A (p.Val2741Met) c.6424G>A (p.Val2142Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585483G>C | CA362694699 | DSP | c.6892G>C (p.Val2298Leu) c.8221G>C (p.Val2741Leu) c.6424G>C (p.Val2142Leu) |