| 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.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) | |
| 6 | g.7585483G= | CA1608614623 | DSP | c.6892G= (p.Val2298=) c.8221G= (p.Val2741=) c.6424G= (p.Val2142=) | |
| 6 | g.7585483G>T | CA362694700 | DSP | c.6892G>T (p.Val2298Leu) c.8221G>T (p.Val2741Leu) c.6424G>T (p.Val2142Leu) | |
| 6 | g.7585484T>A | CA362694702 | DSP | c.6893T>A (p.Val2298Glu) c.8222T>A (p.Val2741Glu) c.6425T>A (p.Val2142Glu) | |
| 6 | g.7585484T>C | CA362694703 | DSP | c.6893T>C (p.Val2298Ala) c.8222T>C (p.Val2741Ala) c.6425T>C (p.Val2142Ala) | |
| 6 | g.7585484T>G | CA362694701 | DSP | c.6893T>G (p.Val2298Gly) c.8222T>G (p.Val2741Gly) c.6425T>G (p.Val2142Gly) | |
| 6 | g.7585485G>A | CA448716719 | DSP | c.6894G>A (p.Val2298=) c.8223G>A (p.Val2741=) c.6426G>A (p.Val2142=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585485G>C | CA448716721 | DSP | c.6894G>C (p.Val2298=) c.8223G>C (p.Val2741=) c.6426G>C (p.Val2142=) | |
| 6 | g.7585485G= | CA1608614629 | DSP | c.6894G= (p.Val2298=) c.8223G= (p.Val2741=) c.6426G= (p.Val2142=) | |
| 6 | g.7585485G>T | CA448716723 | DSP | c.6894G>T (p.Val2298=) c.8223G>T (p.Val2741=) c.6426G>T (p.Val2142=) | |
| 6 | g.7585486C>A | CA362694704 | DSP | c.6895C>A (p.His2299Asn) c.8224C>A (p.His2742Asn) c.6427C>A (p.His2143Asn) | |
| 6 | g.7585486C= | CA1608614633 | DSP | c.6895C= (p.His2299=) c.8224C= (p.His2742=) c.6427C= (p.His2143=) | |
| 6 | g.7585486C>G | CA362694705 | DSP | c.6895C>G (p.His2299Asp) c.8224C>G (p.His2742Asp) c.6427C>G (p.His2143Asp) | |
| 6 | g.7585486C>T | CA051836 | DSP | c.6895C>T (p.His2299Tyr) c.8224C>T (p.His2742Tyr) c.6427C>T (p.His2143Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585487A= | CA1608614637 | DSP | c.6896A= (p.His2299=) c.8225A= (p.His2742=) c.6428A= (p.His2143=) | |
| 6 | g.7585487A>C | CA362694706 | DSP | c.6896A>C (p.His2299Pro) c.8225A>C (p.His2742Pro) c.6428A>C (p.His2143Pro) | |
| 6 | g.7585487A>G | CA051845 | DSP | c.6896A>G (p.His2299Arg) c.8225A>G (p.His2742Arg) c.6428A>G (p.His2143Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585487A>T | CA362694707 | DSP | c.6896A>T (p.His2299Leu) c.8225A>T (p.His2742Leu) c.6428A>T (p.His2143Leu) | COSMIC |
| 6 | g.7585488T>A | CA362694708 | DSP | c.6897T>A (p.His2299Gln) c.8226T>A (p.His2742Gln) c.6429T>A (p.His2143Gln) | |
| 6 | g.7585488T>C | CA448716726 | DSP | c.6897T>C (p.His2299=) c.8226T>C (p.His2742=) c.6429T>C (p.His2143=) | |
| 6 | g.7585488T>G | CA362694709 | DSP | c.6897T>G (p.His2299Gln) c.8226T>G (p.His2742Gln) c.6429T>G (p.His2143Gln) | |
| 6 | g.7585489G>A | CA362694710 | DSP | c.6898G>A (p.Gly2300Arg) c.8227G>A (p.Gly2743Arg) c.6430G>A (p.Gly2144Arg) | ClinVar dbSNP |
| 6 | g.7585489G>C | CA362694711 | DSP | c.6898G>C (p.Gly2300Arg) c.8227G>C (p.Gly2743Arg) c.6430G>C (p.Gly2144Arg) | |
| 6 | g.7585489G= | CA1608614639 | DSP | c.6898G= (p.Gly2300=) c.8227G= (p.Gly2743=) c.6430G= (p.Gly2144=) | |
| 6 | g.7585489G>T | CA362694712 | DSP | c.6898G>T (p.Gly2300Trp) c.8227G>T (p.Gly2743Trp) c.6430G>T (p.Gly2144Trp) | |
| 6 | g.7585491del | CA2582341643 | DSP | c.6900del (p.Arg2301GlyfsTer2) c.8229del (p.Arg2744GlyfsTer2) c.6432del (p.Arg2145GlyfsTer2) | ClinVar |
| 6 | g.7585490G>A | CA362694713 | DSP | c.6899G>A (p.Gly2300Glu) c.8228G>A (p.Gly2743Glu) c.6431G>A (p.Gly2144Glu) | gnomAD v4 |
| 6 | g.7585490G>C | CA362694714 | DSP | c.6899G>C (p.Gly2300Ala) c.8228G>C (p.Gly2743Ala) c.6431G>C (p.Gly2144Ala) | |
| 6 | g.7585490G>T | CA362694715 | DSP | c.6899G>T (p.Gly2300Val) c.8228G>T (p.Gly2743Val) c.6431G>T (p.Gly2144Val) | |
| 6 | g.7585491G>A | CA16612206 | DSP | c.6900G>A (p.Gly2300=) c.8229G>A (p.Gly2743=) c.6432G>A (p.Gly2144=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585491G>C | CA448716732 | DSP | c.6900G>C (p.Gly2300=) c.8229G>C (p.Gly2743=) c.6432G>C (p.Gly2144=) | dbSNP |
| 6 | g.7585491G= | CA1608614643 | DSP | c.6900G= (p.Gly2300=) c.8229G= (p.Gly2743=) c.6432G= (p.Gly2144=) | |
| 6 | g.7585491G>T | CA448716733 | DSP | c.6900G>T (p.Gly2300=) c.8229G>T (p.Gly2743=) c.6432G>T (p.Gly2144=) | |
| 6 | g.7585492A= | CA1608614648 | DSP | c.6901A= (p.Arg2301=) c.8230A= (p.Arg2744=) c.6433A= (p.Arg2145=) | |
| 6 | g.7585492A>C | CA448716734 | DSP | c.6901A>C (p.Arg2301=) c.8230A>C (p.Arg2744=) c.6433A>C (p.Arg2145=) | |
| 6 | g.7585492A>G | CA362694716 | DSP | c.6901A>G (p.Arg2301Gly) c.8230A>G (p.Arg2744Gly) c.6433A>G (p.Arg2145Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585492A>T | CA362694717 | DSP | c.6901A>T (p.Arg2301Trp) c.8230A>T (p.Arg2744Trp) c.6433A>T (p.Arg2145Trp) | COSMIC |
| 6 | g.7585493G>A | CA362694718 | DSP | c.6902G>A (p.Arg2301Lys) c.8231G>A (p.Arg2744Lys) c.6434G>A (p.Arg2145Lys) | dbSNP |
| 6 | g.7585493G>C | CA362694719 | DSP | c.6902G>C (p.Arg2301Thr) c.8231G>C (p.Arg2744Thr) c.6434G>C (p.Arg2145Thr) | |
| 6 | g.7585493G= | CA1608614650 | DSP | c.6902G= (p.Arg2301=) c.8231G= (p.Arg2744=) c.6434G= (p.Arg2145=) | |
| 6 | g.7585493G>T | CA362694720 | DSP | c.6902G>T (p.Arg2301Met) c.8231G>T (p.Arg2744Met) c.6434G>T (p.Arg2145Met) | |
| 6 | g.7585494G>A | CA051885 | DSP | c.6903G>A (p.Arg2301=) c.8232G>A (p.Arg2744=) c.6435G>A (p.Arg2145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585494G>C | CA362694721 | DSP | c.6903G>C (p.Arg2301Ser) c.8232G>C (p.Arg2744Ser) c.6435G>C (p.Arg2145Ser) | |
| 6 | g.7585494G= | CA1608614654 | DSP | c.6903G= (p.Arg2301=) c.8232G= (p.Arg2744=) c.6435G= (p.Arg2145=) | |
| 6 | g.7585494G>T | CA362694722 | DSP | c.6903G>T (p.Arg2301Ser) c.8232G>T (p.Arg2744Ser) c.6435G>T (p.Arg2145Ser) | gnomAD v4 |
| 6 | g.7585495A= | CA1608614660 | DSP | c.6904A= (p.Ile2302=) c.8233A= (p.Ile2745=) c.6436A= (p.Ile2146=) | |
| 6 | g.7585495A>C | CA362694723 | DSP | c.6904A>C (p.Ile2302Leu) c.8233A>C (p.Ile2745Leu) c.6436A>C (p.Ile2146Leu) | |
| 6 | g.7585495A>G | CA051894 | DSP | c.6904A>G (p.Ile2302Val) c.8233A>G (p.Ile2745Val) c.6436A>G (p.Ile2146Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585495A>T | CA362694724 | DSP | c.6904A>T (p.Ile2302Leu) c.8233A>T (p.Ile2745Leu) c.6436A>T (p.Ile2146Leu) | |
| 6 | g.7585496T>A | CA362694725 | DSP | c.6905T>A (p.Ile2302Lys) c.8234T>A (p.Ile2745Lys) c.6437T>A (p.Ile2146Lys) | |
| 6 | g.7585496T>C | CA362694726 | DSP | c.6905T>C (p.Ile2302Thr) c.8234T>C (p.Ile2745Thr) c.6437T>C (p.Ile2146Thr) | |
| 6 | g.7585496T>G | CA362694727 | DSP | c.6905T>G (p.Ile2302Arg) c.8234T>G (p.Ile2745Arg) c.6437T>G (p.Ile2146Arg) | |
| 6 | g.7585497A= | CA1608614667 | DSP | c.6906A= (p.Ile2302=) c.8235A= (p.Ile2745=) c.6438A= (p.Ile2146=) | |
| 6 | g.7585497A>C | CA448716742 | DSP | c.6906A>C (p.Ile2302=) c.8235A>C (p.Ile2745=) c.6438A>C (p.Ile2146=) | |
| 6 | g.7585497A>G | CA051907 | DSP | c.6906A>G (p.Ile2302Met) c.8235A>G (p.Ile2745Met) c.6438A>G (p.Ile2146Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585497A>T | CA448716740 | DSP | c.6906A>T (p.Ile2302=) c.8235A>T (p.Ile2745=) c.6438A>T (p.Ile2146=) | gnomAD v4 |
| 6 | g.7585498A= | CA1608614672 | DSP | c.6907A= (p.Ser2303=) c.8236A= (p.Ser2746=) c.6439A= (p.Ser2147=) | |
| 6 | g.7585498A>C | CA362694729 | DSP | c.6907A>C (p.Ser2303Arg) c.8236A>C (p.Ser2746Arg) c.6439A>C (p.Ser2147Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585498A>G | CA362694730 | DSP | c.6907A>G (p.Ser2303Gly) c.8236A>G (p.Ser2746Gly) c.6439A>G (p.Ser2147Gly) | |
| 6 | g.7585498A>T | CA362694728 | DSP | c.6907A>T (p.Ser2303Cys) c.8236A>T (p.Ser2746Cys) c.6439A>T (p.Ser2147Cys) | gnomAD v4 |
| 6 | g.7585499G>A | CA362694731 | DSP | c.6908G>A (p.Ser2303Asn) c.8237G>A (p.Ser2746Asn) c.6440G>A (p.Ser2147Asn) | |
| 6 | g.7585499G>C | CA362694733 | DSP | c.6908G>C (p.Ser2303Thr) c.8237G>C (p.Ser2746Thr) c.6440G>C (p.Ser2147Thr) | gnomAD v4 |
| 6 | g.7585499G>T | CA362694732 | DSP | c.6908G>T (p.Ser2303Ile) c.8237G>T (p.Ser2746Ile) c.6440G>T (p.Ser2147Ile) | |
| 6 | g.7585500C>A | CA362694734 | DSP | c.6909C>A (p.Ser2303Arg) c.8238C>A (p.Ser2746Arg) c.6441C>A (p.Ser2147Arg) | |
| 6 | g.7585500C= | CA1608614680 | DSP | c.6909C= (p.Ser2303=) c.8238C= (p.Ser2746=) c.6441C= (p.Ser2147=) | |
| 6 | g.7585500C>G | CA051915 | DSP | c.6909C>G (p.Ser2303Arg) c.8238C>G (p.Ser2746Arg) c.6441C>G (p.Ser2147Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585500C>T | CA448716745 | DSP | c.6909C>T (p.Ser2303=) c.8238C>T (p.Ser2746=) c.6441C>T (p.Ser2147=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585501A>C | CA362694735 | DSP | c.6910A>C (p.Thr2304Pro) c.8239A>C (p.Thr2747Pro) c.6442A>C (p.Thr2148Pro) | |
| 6 | g.7585501A>G | CA362694737 | DSP | c.6910A>G (p.Thr2304Ala) c.8239A>G (p.Thr2747Ala) c.6442A>G (p.Thr2148Ala) | |
| 6 | g.7585501A>T | CA362694736 | DSP | c.6910A>T (p.Thr2304Ser) c.8239A>T (p.Thr2747Ser) c.6442A>T (p.Thr2148Ser) | |
| 6 | g.7585502C>A | CA362694738 | DSP | c.6911C>A (p.Thr2304Asn) c.8240C>A (p.Thr2747Asn) c.6443C>A (p.Thr2148Asn) | |
| 6 | g.7585502C= | CA1608614684 | DSP | c.6911C= (p.Thr2304=) c.8240C= (p.Thr2747=) c.6443C= (p.Thr2148=) | |
| 6 | g.7585502C>G | CA362694739 | DSP | c.6911C>G (p.Thr2304Ser) c.8240C>G (p.Thr2747Ser) c.6443C>G (p.Thr2148Ser) | |
| 6 | g.7585502C>T | CA362694740 | DSP | c.6911C>T (p.Thr2304Ile) c.8240C>T (p.Thr2747Ile) c.6443C>T (p.Thr2148Ile) | ClinVar dbSNP |
| 6 | g.7585503C>A | CA051921 | DSP | c.6912C>A (p.Thr2304=) c.8241C>A (p.Thr2747=) c.6444C>A (p.Thr2148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585503C= | CA1608614691 | DSP | c.6912C= (p.Thr2304=) c.8241C= (p.Thr2747=) c.6444C= (p.Thr2148=) | |
| 6 | g.7585503C>G | CA448716749 | DSP | c.6912C>G (p.Thr2304=) c.8241C>G (p.Thr2747=) c.6444C>G (p.Thr2148=) | ClinVar |
| 6 | g.7585503C>T | CA448716750 | DSP | c.6912C>T (p.Thr2304=) c.8241C>T (p.Thr2747=) c.6444C>T (p.Thr2148=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585504G>A | CA362694741 | DSP | c.6913G>A (p.Glu2305Lys) c.8242G>A (p.Glu2748Lys) c.6445G>A (p.Glu2149Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585504G>C | CA362694742 | DSP | c.6913G>C (p.Glu2305Gln) c.8242G>C (p.Glu2748Gln) c.6445G>C (p.Glu2149Gln) | |
| 6 | g.7585504G= | CA1608614695 | DSP | c.6913G= (p.Glu2305=) c.8242G= (p.Glu2748=) c.6445G= (p.Glu2149=) | |
| 6 | g.7585504G>T | CA362694743 | DSP | c.6913G>T (p.Glu2305Ter) c.8242G>T (p.Glu2748Ter) c.6445G>T (p.Glu2149Ter) | |
| 6 | g.7585504_7585507dup | CA2769904076 | DSP | c.6913_6916dup (p.Glu2306GlyfsTer?) c.8242_8245dup (p.Glu2749GlyfsTer?) c.6445_6448dup (p.Glu2150GlyfsTer?) | |
| 6 | g.7585505A>C | CA362694746 | DSP | c.6914A>C (p.Glu2305Ala) c.8243A>C (p.Glu2748Ala) c.6446A>C (p.Glu2149Ala) | |
| 6 | g.7585505A>G | CA362694744 | DSP | c.6914A>G (p.Glu2305Gly) c.8243A>G (p.Glu2748Gly) c.6446A>G (p.Glu2149Gly) | |
| 6 | g.7585505A>T | CA362694745 | DSP | c.6914A>T (p.Glu2305Val) c.8243A>T (p.Glu2748Val) c.6446A>T (p.Glu2149Val) | |
| 6 | g.7585506A>C | CA362694747 | DSP | c.6915A>C (p.Glu2305Asp) c.8244A>C (p.Glu2748Asp) c.6447A>C (p.Glu2149Asp) | |
| 6 | g.7585506A>G | CA448716752 | DSP | c.6915A>G (p.Glu2305=) c.8244A>G (p.Glu2748=) c.6447A>G (p.Glu2149=) | |
| 6 | g.7585506A>T | CA362694748 | DSP | c.6915A>T (p.Glu2305Asp) c.8244A>T (p.Glu2748Asp) c.6447A>T (p.Glu2149Asp) | |
| 6 | g.7585507G>A | CA362694749 | DSP | c.6916G>A (p.Glu2306Lys) c.8245G>A (p.Glu2749Lys) c.6448G>A (p.Glu2150Lys) | COSMIC |
| 6 | g.7585507G>C | CA362694750 | DSP | c.6916G>C (p.Glu2306Gln) c.8245G>C (p.Glu2749Gln) c.6448G>C (p.Glu2150Gln) | |
| 6 | g.7585507G>T | CA362694751 | DSP | c.6916G>T (p.Glu2306Ter) c.8245G>T (p.Glu2749Ter) c.6448G>T (p.Glu2150Ter) | |
| 6 | g.7585508A= | CA1608614700 | DSP | c.6917A= (p.Glu2306=) c.8246A= (p.Glu2749=) c.6449A= (p.Glu2150=) | |
| 6 | g.7585508A>C | CA362694752 | DSP | c.6917A>C (p.Glu2306Ala) c.8246A>C (p.Glu2749Ala) c.6449A>C (p.Glu2150Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585508A>G | CA362694754 | DSP | c.6917A>G (p.Glu2306Gly) c.8246A>G (p.Glu2749Gly) c.6449A>G (p.Glu2150Gly) | |
| 6 | g.7585508A>T | CA362694753 | DSP | c.6917A>T (p.Glu2306Val) c.8246A>T (p.Glu2749Val) c.6449A>T (p.Glu2150Val) | |
| 6 | g.7585509A>C | CA362694755 | DSP | c.6918A>C (p.Glu2306Asp) c.8247A>C (p.Glu2749Asp) c.6450A>C (p.Glu2150Asp) | ClinVar |
| 6 | g.7585509A>G | CA448716754 | DSP | c.6918A>G (p.Glu2306=) c.8247A>G (p.Glu2749=) c.6450A>G (p.Glu2150=) | |
| 6 | g.7585509A>T | CA362694756 | DSP | c.6918A>T (p.Glu2306Asp) c.8247A>T (p.Glu2749Asp) c.6450A>T (p.Glu2150Asp) | |
| 6 | g.7585510G>A | CA362694757 | DSP | c.6919G>A (p.Ala2307Thr) c.8248G>A (p.Ala2750Thr) c.6451G>A (p.Ala2151Thr) | gnomAD v4 |
| 6 | g.7585510G>C | CA362694758 | DSP | c.6919G>C (p.Ala2307Pro) c.8248G>C (p.Ala2750Pro) c.6451G>C (p.Ala2151Pro) | |
| 6 | g.7585510G>T | CA362694759 | DSP | c.6919G>T (p.Ala2307Ser) c.8248G>T (p.Ala2750Ser) c.6451G>T (p.Ala2151Ser) | |
| 6 | g.7585511C>A | CA362694760 | DSP | c.6920C>A (p.Ala2307Asp) c.8249C>A (p.Ala2750Asp) c.6452C>A (p.Ala2151Asp) | |
| 6 | g.7585511C>G | CA362694761 | DSP | c.6920C>G (p.Ala2307Gly) c.8249C>G (p.Ala2750Gly) c.6452C>G (p.Ala2151Gly) | ClinVar |
| 6 | g.7585511C>T | CA362694762 | DSP | c.6920C>T (p.Ala2307Val) c.8249C>T (p.Ala2750Val) c.6452C>T (p.Ala2151Val) | ClinVar COSMIC |
| 6 | g.7585512C>A | CA448716758 | DSP | c.6921C>A (p.Ala2307=) c.8250C>A (p.Ala2750=) c.6453C>A (p.Ala2151=) | |
| 6 | g.7585512C>G | CA448716760 | DSP | c.6921C>G (p.Ala2307=) c.8250C>G (p.Ala2750=) c.6453C>G (p.Ala2151=) | |
| 6 | g.7585512C>T | CA448716761 | DSP | c.6921C>T (p.Ala2307=) c.8250C>T (p.Ala2750=) c.6453C>T (p.Ala2151=) | |
| 6 | g.7585513A>C | CA362694763 | DSP | c.6922A>C (p.Ile2308Leu) c.8251A>C (p.Ile2751Leu) c.6454A>C (p.Ile2152Leu) | |
| 6 | g.7585513A>G | CA362694764 | DSP | c.6922A>G (p.Ile2308Val) c.8251A>G (p.Ile2751Val) c.6454A>G (p.Ile2152Val) | |
| 6 | g.7585513A>T | CA362694765 | DSP | c.6922A>T (p.Ile2308Phe) c.8251A>T (p.Ile2751Phe) c.6454A>T (p.Ile2152Phe) | gnomAD v4 |
| 6 | g.7585514T>A | CA362694766 | DSP | c.6923T>A (p.Ile2308Asn) c.8252T>A (p.Ile2751Asn) c.6455T>A (p.Ile2152Asn) | |
| 6 | g.7585514T>C | CA362694767 | DSP | c.6923T>C (p.Ile2308Thr) c.8252T>C (p.Ile2751Thr) c.6455T>C (p.Ile2152Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585514T>G | CA133977561 | DSP | c.6923T>G (p.Ile2308Ser) c.8252T>G (p.Ile2751Ser) c.6455T>G (p.Ile2152Ser) | ClinVar dbSNP |
| 6 | g.7585514T= | CA1608614707 | DSP | c.6923T= (p.Ile2308=) c.8252T= (p.Ile2751=) c.6455T= (p.Ile2152=) | |
| 6 | g.7585515C>A | CA448716769 | DSP | c.6924C>A (p.Ile2308=) c.8253C>A (p.Ile2751=) c.6456C>A (p.Ile2152=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585515C= | CA1608614713 | DSP | c.6924C= (p.Ile2308=) c.8253C= (p.Ile2751=) c.6456C= (p.Ile2152=) | |
| 6 | g.7585515C>G | CA362694768 | DSP | c.6924C>G (p.Ile2308Met) c.8253C>G (p.Ile2751Met) c.6456C>G (p.Ile2152Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585515C>T | CA448716770 | DSP | c.6924C>T (p.Ile2308=) c.8253C>T (p.Ile2751=) c.6456C>T (p.Ile2152=) | |
| 6 | g.7585516C>A | CA448716773 | DSP | c.6925C>A (p.Arg2309=) c.8254C>A (p.Arg2752=) c.6457C>A (p.Arg2153=) | |
| 6 | g.7585516C= | CA1608614718 | DSP | c.6925C= (p.Arg2309=) c.8254C= (p.Arg2752=) c.6457C= (p.Arg2153=) | |
| 6 | g.7585516C>G | CA362694769 | DSP | c.6925C>G (p.Arg2309Gly) c.8254C>G (p.Arg2752Gly) c.6457C>G (p.Arg2153Gly) | gnomAD v4 |
| 6 | g.7585516C>T | CA362694770 | DSP | c.6925C>T (p.Arg2309Trp) c.8254C>T (p.Arg2752Trp) c.6457C>T (p.Arg2153Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585517G>A | CA051930 | DSP | c.6926G>A (p.Arg2309Gln) c.8255G>A (p.Arg2752Gln) c.6458G>A (p.Arg2153Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585517G>C | CA362694771 | DSP | c.6926G>C (p.Arg2309Pro) c.8255G>C (p.Arg2752Pro) c.6458G>C (p.Arg2153Pro) | ClinVar dbSNP |
| 6 | g.7585517G= | CA1608614723 | DSP | c.6926G= (p.Arg2309=) c.8255G= (p.Arg2752=) c.6458G= (p.Arg2153=) | |
| 6 | g.7585517G>T | CA362694772 | DSP | c.6926G>T (p.Arg2309Leu) c.8255G>T (p.Arg2752Leu) c.6458G>T (p.Arg2153Leu) | |
| 6 | g.7585518G>A | CA448716777 | DSP | c.6927G>A (p.Arg2309=) c.8256G>A (p.Arg2752=) c.6459G>A (p.Arg2153=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585518G>C | CA448716776 | DSP | c.6927G>C (p.Arg2309=) c.8256G>C (p.Arg2752=) c.6459G>C (p.Arg2153=) | |
| 6 | g.7585518G= | CA1608614729 | DSP | c.6927G= (p.Arg2309=) c.8256G= (p.Arg2752=) c.6459G= (p.Arg2153=) | |
| 6 | g.7585518G>T | CA448716775 | DSP | c.6927G>T (p.Arg2309=) c.8256G>T (p.Arg2752=) c.6459G>T (p.Arg2153=) | |
| 6 | g.7585519A= | CA1608614732 | DSP | c.6928A= (p.Lys2310=) c.8257A= (p.Lys2753=) c.6460A= (p.Lys2154=) | |
| 6 | g.7585519A>C | CA362694773 | DSP | c.6928A>C (p.Lys2310Gln) c.8257A>C (p.Lys2753Gln) c.6460A>C (p.Lys2154Gln) | ClinVar dbSNP |
| 6 | g.7585519A>G | CA362694774 | DSP | c.6928A>G (p.Lys2310Glu) c.8257A>G (p.Lys2753Glu) c.6460A>G (p.Lys2154Glu) | gnomAD v4 |
| 6 | g.7585519A>T | CA362694775 | DSP | c.6928A>T (p.Lys2310Ter) c.8257A>T (p.Lys2753Ter) c.6460A>T (p.Lys2154Ter) | |
| 6 | g.7585520A>C | CA362694776 | DSP | c.6929A>C (p.Lys2310Thr) c.8258A>C (p.Lys2753Thr) c.6461A>C (p.Lys2154Thr) | |
| 6 | g.7585520A>G | CA362694777 | DSP | c.6929A>G (p.Lys2310Arg) c.8258A>G (p.Lys2753Arg) c.6461A>G (p.Lys2154Arg) | gnomAD v4 |
| 6 | g.7585520A>T | CA362694778 | DSP | c.6929A>T (p.Lys2310Met) c.8258A>T (p.Lys2753Met) c.6461A>T (p.Lys2154Met) | |
| 6 | g.7585521G>A | CA133977565 | DSP | c.6930G>A (p.Lys2310=) c.8259G>A (p.Lys2753=) c.6462G>A (p.Lys2154=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585521G>C | CA362694780 | DSP | c.6930G>C (p.Lys2310Asn) c.8259G>C (p.Lys2753Asn) c.6462G>C (p.Lys2154Asn) | |
| 6 | g.7585521G= | CA1608614745 | DSP | c.6930G= (p.Lys2310=) c.8259G= (p.Lys2753=) c.6462G= (p.Lys2154=) | |
| 6 | g.7585521G>T | CA362694779 | DSP | c.6930G>T (p.Lys2310Asn) c.8259G>T (p.Lys2753Asn) c.6462G>T (p.Lys2154Asn) | |
| 6 | g.7585522G>A | CA362694781 | DSP | c.6931G>A (p.Gly2311Arg) c.8260G>A (p.Gly2754Arg) c.6463G>A (p.Gly2155Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585522G>C | CA362694782 | DSP | c.6931G>C (p.Gly2311Arg) c.8260G>C (p.Gly2754Arg) c.6463G>C (p.Gly2155Arg) | |
| 6 | g.7585522G>T | CA362694783 | DSP | c.6931G>T (p.Gly2311Trp) c.8260G>T (p.Gly2754Trp) c.6463G>T (p.Gly2155Trp) | |
| 6 | g.7585523G>A | CA362694784 | DSP | c.6932G>A (p.Gly2311Glu) c.8261G>A (p.Gly2754Glu) c.6464G>A (p.Gly2155Glu) | dbSNP COSMIC |
| 6 | g.7585523G>C | CA362694785 | DSP | c.6932G>C (p.Gly2311Ala) c.8261G>C (p.Gly2754Ala) c.6464G>C (p.Gly2155Ala) | dbSNP |
| 6 | g.7585523G= | CA1608614747 | DSP | c.6932G= (p.Gly2311=) c.8261G= (p.Gly2754=) c.6464G= (p.Gly2155=) | |
| 6 | g.7585523G>T | CA362694786 | DSP | c.6932G>T (p.Gly2311Val) c.8261G>T (p.Gly2754Val) c.6464G>T (p.Gly2155Val) | gnomAD v4 |
| 6 | g.7585524G>A | CA133977593 | DSP | c.6933G>A (p.Gly2311=) c.8262G>A (p.Gly2754=) c.6465G>A (p.Gly2155=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585524G>C | CA448716785 | DSP | c.6933G>C (p.Gly2311=) c.8262G>C (p.Gly2754=) c.6465G>C (p.Gly2155=) | |
| 6 | g.7585524G= | CA1608614756 | DSP | c.6933G= (p.Gly2311=) c.8262G= (p.Gly2754=) c.6465G= (p.Gly2155=) | |
| 6 | g.7585524G>T | CA051938 | DSP | c.6933G>T (p.Gly2311=) c.8262G>T (p.Gly2754=) c.6465G>T (p.Gly2155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585525T>A | CA362694787 | DSP | c.6934T>A (p.Phe2312Ile) c.8263T>A (p.Phe2755Ile) c.6466T>A (p.Phe2156Ile) | |
| 6 | g.7585525T>C | CA362694788 | DSP | c.6934T>C (p.Phe2312Leu) c.8263T>C (p.Phe2755Leu) c.6466T>C (p.Phe2156Leu) | |
| 6 | g.7585525T>G | CA362694789 | DSP | c.6934T>G (p.Phe2312Val) c.8263T>G (p.Phe2755Val) c.6466T>G (p.Phe2156Val) | |
| 6 | g.7585526dup | CA2825001490 | DSP | c.6935dup (p.Ile2313HisfsTer?) c.8264dup (p.Ile2756HisfsTer?) c.6467dup (p.Ile2157HisfsTer?) | ClinVar |
| 6 | g.7585526T>A | CA362694792 | DSP | c.6935T>A (p.Phe2312Tyr) c.8264T>A (p.Phe2755Tyr) c.6467T>A (p.Phe2156Tyr) | |
| 6 | g.7585526T>C | CA362694791 | DSP | c.6935T>C (p.Phe2312Ser) c.8264T>C (p.Phe2755Ser) c.6467T>C (p.Phe2156Ser) | |
| 6 | g.7585526T>G | CA362694790 | DSP | c.6935T>G (p.Phe2312Cys) c.8264T>G (p.Phe2755Cys) c.6467T>G (p.Phe2156Cys) | |
| 6 | g.7585527C>A | CA362694793 | DSP | c.6936C>A (p.Phe2312Leu) c.8265C>A (p.Phe2755Leu) c.6468C>A (p.Phe2156Leu) | |
| 6 | g.7585527C>G | CA362694794 | DSP | c.6936C>G (p.Phe2312Leu) c.8265C>G (p.Phe2755Leu) c.6468C>G (p.Phe2156Leu) | |
| 6 | g.7585527C>T | CA448716789 | DSP | c.6936C>T (p.Phe2312=) c.8265C>T (p.Phe2755=) c.6468C>T (p.Phe2156=) | |
| 6 | g.7585528A= | CA1608614763 | DSP | c.6937A= (p.Ile2313=) c.8266A= (p.Ile2756=) c.6469A= (p.Ile2157=) | |
| 6 | g.7585528A>C | CA362694795 | DSP | c.6937A>C (p.Ile2313Leu) c.8266A>C (p.Ile2756Leu) c.6469A>C (p.Ile2157Leu) | gnomAD v4 |
| 6 | g.7585528A>G | CA362694796 | DSP | c.6937A>G (p.Ile2313Val) c.8266A>G (p.Ile2756Val) c.6469A>G (p.Ile2157Val) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7585528A>T | CA362694797 | DSP | c.6937A>T (p.Ile2313Leu) c.8266A>T (p.Ile2756Leu) c.6469A>T (p.Ile2157Leu) | dbSNP |
| 6 | g.7585529T>A | CA362694798 | DSP | c.6938T>A (p.Ile2313Lys) c.8267T>A (p.Ile2756Lys) c.6470T>A (p.Ile2157Lys) | gnomAD v4 |
| 6 | g.7585529T>C | CA362694799 | DSP | c.6938T>C (p.Ile2313Thr) c.8267T>C (p.Ile2756Thr) c.6470T>C (p.Ile2157Thr) | dbSNP |
| 6 | g.7585529T>G | CA362694800 | DSP | c.6938T>G (p.Ile2313Arg) c.8267T>G (p.Ile2756Arg) c.6470T>G (p.Ile2157Arg) | dbSNP |
| 6 | g.7585529T= | CA1608614770 | DSP | c.6938T= (p.Ile2313=) c.8267T= (p.Ile2756=) c.6470T= (p.Ile2157=) | |
| 6 | g.7585530A= | CA1608614775 | DSP | c.6939A= (p.Ile2313=) c.8268A= (p.Ile2756=) c.6471A= (p.Ile2157=) | |
| 6 | g.7585530A>C | CA007439 | DSP | c.6939A>C (p.Ile2313=) c.8268A>C (p.Ile2756=) c.6471A>C (p.Ile2157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585530A>G | CA362694801 | DSP | c.6939A>G (p.Ile2313Met) c.8268A>G (p.Ile2756Met) c.6471A>G (p.Ile2157Met) | |
| 6 | g.7585530A>T | CA448716798 | DSP | c.6939A>T (p.Ile2313=) c.8268A>T (p.Ile2756=) c.6471A>T (p.Ile2157=) | |
| 6 | g.7585531G>A | CA362694802 | DSP | c.6940G>A (p.Asp2314Asn) c.8269G>A (p.Asp2757Asn) c.6472G>A (p.Asp2158Asn) | dbSNP |
| 6 | g.7585531G>C | CA362694803 | DSP | c.6940G>C (p.Asp2314His) c.8269G>C (p.Asp2757His) c.6472G>C (p.Asp2158His) | dbSNP gnomAD v4 |
| 6 | g.7585531G= | CA1608614782 | DSP | c.6940G= (p.Asp2314=) c.8269G= (p.Asp2757=) c.6472G= (p.Asp2158=) | |
| 6 | g.7585531G>T | CA362694804 | DSP | c.6940G>T (p.Asp2314Tyr) c.8269G>T (p.Asp2757Tyr) c.6472G>T (p.Asp2158Tyr) | |
| 6 | g.7585532A= | CA1608614789 | DSP | c.6941A= (p.Asp2314=) c.8270A= (p.Asp2757=) c.6473A= (p.Asp2158=) | |
| 6 | g.7585532A>C | CA362694807 | DSP | c.6941A>C (p.Asp2314Ala) c.8270A>C (p.Asp2757Ala) c.6473A>C (p.Asp2158Ala) | ClinVar dbSNP |
| 6 | g.7585532A>G | CA362694806 | DSP | c.6941A>G (p.Asp2314Gly) c.8270A>G (p.Asp2757Gly) c.6473A>G (p.Asp2158Gly) | |
| 6 | g.7585532A>T | CA362694805 | DSP | c.6941A>T (p.Asp2314Val) c.8270A>T (p.Asp2757Val) c.6473A>T (p.Asp2158Val) | |
| 6 | g.7585533T>A | CA362694808 | DSP | c.6942T>A (p.Asp2314Glu) c.8271T>A (p.Asp2757Glu) c.6474T>A (p.Asp2158Glu) | |
| 6 | g.7585533T>C | CA448716804 | DSP | c.6942T>C (p.Asp2314=) c.8271T>C (p.Asp2757=) c.6474T>C (p.Asp2158=) | |
| 6 | g.7585533T>G | CA362694809 | DSP | c.6942T>G (p.Asp2314Glu) c.8271T>G (p.Asp2757Glu) c.6474T>G (p.Asp2158Glu) | gnomAD v4 |
| 6 | g.7585534G>A | CA362694810 | DSP | c.6943G>A (p.Gly2315Ser) c.8272G>A (p.Gly2758Ser) c.6475G>A (p.Gly2159Ser) | ClinVar dbSNP |
| 6 | g.7585534G>C | CA362694811 | DSP | c.6943G>C (p.Gly2315Arg) c.8272G>C (p.Gly2758Arg) c.6475G>C (p.Gly2159Arg) | |
| 6 | g.7585534G= | CA1608614796 | DSP | c.6943G= (p.Gly2315=) c.8272G= (p.Gly2758=) c.6475G= (p.Gly2159=) | |
| 6 | g.7585534G>T | CA362694812 | DSP | c.6943G>T (p.Gly2315Cys) c.8272G>T (p.Gly2758Cys) c.6475G>T (p.Gly2159Cys) | |
| 6 | g.7585535G>A | CA362694813 | DSP | c.6944G>A (p.Gly2315Asp) c.8273G>A (p.Gly2758Asp) c.6476G>A (p.Gly2159Asp) | |
| 6 | g.7585535G>C | CA362694814 | DSP | c.6944G>C (p.Gly2315Ala) c.8273G>C (p.Gly2758Ala) c.6476G>C (p.Gly2159Ala) | |
| 6 | g.7585535G>T | CA362694815 | DSP | c.6944G>T (p.Gly2315Val) c.8273G>T (p.Gly2758Val) c.6476G>T (p.Gly2159Val) | |
| 6 | g.7585536C>A | CA448716807 | DSP | c.6945C>A (p.Gly2315=) c.8274C>A (p.Gly2758=) c.6477C>A (p.Gly2159=) | |
| 6 | g.7585536C= | CA1608614803 | DSP | c.6945C= (p.Gly2315=) c.8274C= (p.Gly2758=) c.6477C= (p.Gly2159=) | |
| 6 | g.7585536C>G | CA448716809 | DSP | c.6945C>G (p.Gly2315=) c.8274C>G (p.Gly2758=) c.6477C>G (p.Gly2159=) | |
| 6 | g.7585536C>T | CA448716811 | DSP | c.6945C>T (p.Gly2315=) c.8274C>T (p.Gly2758=) c.6477C>T (p.Gly2159=) | dbSNP |
| 6 | g.7585538_7585587dup | CA2769904084 | DSP | c.6947_6996dup (p.Cys2333AlafsTer16) c.8276_8325dup (p.Cys2776AlafsTer16) c.6479_6528dup (p.Cys2177AlafsTer16) | |
| 6 | g.7585537C>A | CA133977633 | DSP | c.6946C>A (p.Arg2316Ser) c.8275C>A (p.Arg2759Ser) c.6478C>A (p.Arg2160Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585537C= | CA1608614809 | DSP | c.6946C= (p.Arg2316=) c.8275C= (p.Arg2759=) c.6478C= (p.Arg2160=) | |
| 6 | g.7585537C>G | CA362694816 | DSP | c.6946C>G (p.Arg2316Gly) c.8275C>G (p.Arg2759Gly) c.6478C>G (p.Arg2160Gly) | gnomAD v4 |
| 6 | g.7585537C>T | CA051954 | DSP | c.6946C>T (p.Arg2316Cys) c.8275C>T (p.Arg2759Cys) c.6478C>T (p.Arg2160Cys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.7585538G>A | CA133977642 | DSP | c.6947G>A (p.Arg2316His) c.8276G>A (p.Arg2759His) c.6479G>A (p.Arg2160His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585538G>C | CA362694817 | DSP | c.6947G>C (p.Arg2316Pro) c.8276G>C (p.Arg2759Pro) c.6479G>C (p.Arg2160Pro) | |
| 6 | g.7585538G= | CA1608614814 | DSP | c.6947G= (p.Arg2316=) c.8276G= (p.Arg2759=) c.6479G= (p.Arg2160=) | |
| 6 | g.7585538G>T | CA362694818 | DSP | c.6947G>T (p.Arg2316Leu) c.8276G>T (p.Arg2759Leu) c.6479G>T (p.Arg2160Leu) | |
| 6 | g.7585539C>A | CA448716816 | DSP | c.6948C>A (p.Arg2316=) c.8277C>A (p.Arg2759=) c.6480C>A (p.Arg2160=) | COSMIC |
| 6 | g.7585539C= | CA1608614824 | DSP | c.6948C= (p.Arg2316=) c.8277C= (p.Arg2759=) c.6480C= (p.Arg2160=) | |
| 6 | g.7585539C>G | CA448716825 | DSP | c.6948C>G (p.Arg2316=) c.8277C>G (p.Arg2759=) c.6480C>G (p.Arg2160=) | |
| 6 | g.7585539C>T | CA448716826 | DSP | c.6948C>T (p.Arg2316=) c.8277C>T (p.Arg2759=) c.6480C>T (p.Arg2160=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585540G>A | CA133977650 | DSP | c.6949G>A (p.Ala2317Thr) c.8278G>A (p.Ala2760Thr) c.6481G>A (p.Ala2161Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585540G>C | CA362694820 | DSP | c.6949G>C (p.Ala2317Pro) c.8278G>C (p.Ala2760Pro) c.6481G>C (p.Ala2161Pro) | |
| 6 | g.7585540G= | CA1608614828 | DSP | c.6949G= (p.Ala2317=) c.8278G= (p.Ala2760=) c.6481G= (p.Ala2161=) | |
| 6 | g.7585540G>T | CA362694819 | DSP | c.6949G>T (p.Ala2317Ser) c.8278G>T (p.Ala2760Ser) c.6481G>T (p.Ala2161Ser) | |
| 6 | g.7585541C>A | CA362694821 | DSP | c.6950C>A (p.Ala2317Asp) c.8279C>A (p.Ala2760Asp) c.6482C>A (p.Ala2161Asp) | |
| 6 | g.7585541C= | CA1608614835 | DSP | c.6950C= (p.Ala2317=) c.8279C= (p.Ala2760=) c.6482C= (p.Ala2161=) | |
| 6 | g.7585541C>G | CA362694822 | DSP | c.6950C>G (p.Ala2317Gly) c.8279C>G (p.Ala2760Gly) c.6482C>G (p.Ala2161Gly) | |
| 6 | g.7585541C>T | CA051971 | DSP | c.6950C>T (p.Ala2317Val) c.8279C>T (p.Ala2760Val) c.6482C>T (p.Ala2161Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585542C>A | CA448716831 | DSP | c.6951C>A (p.Ala2317=) c.8280C>A (p.Ala2760=) c.6483C>A (p.Ala2161=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585542C= | CA1608614842 | DSP | c.6951C= (p.Ala2317=) c.8280C= (p.Ala2760=) c.6483C= (p.Ala2161=) | |
| 6 | g.7585542C>G | CA448716832 | DSP | c.6951C>G (p.Ala2317=) c.8280C>G (p.Ala2760=) c.6483C>G (p.Ala2161=) | dbSNP gnomAD v4 |
| 6 | g.7585542C>T | CA448716833 | DSP | c.6951C>T (p.Ala2317=) c.8280C>T (p.Ala2760=) c.6483C>T (p.Ala2161=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585543G>A | CA133977666 | DSP | c.6952G>A (p.Ala2318Thr) c.8281G>A (p.Ala2761Thr) c.6484G>A (p.Ala2162Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585543G>C | CA362694823 | DSP | c.6952G>C (p.Ala2318Pro) c.8281G>C (p.Ala2761Pro) c.6484G>C (p.Ala2162Pro) | |
| 6 | g.7585543G= | CA1608614850 | DSP | c.6952G= (p.Ala2318=) c.8281G= (p.Ala2761=) c.6484G= (p.Ala2162=) | |
| 6 | g.7585543G>T | CA362694824 | DSP | c.6952G>T (p.Ala2318Ser) c.8281G>T (p.Ala2761Ser) c.6484G>T (p.Ala2162Ser) | |
| 6 | g.7585544C>A | CA362694825 | DSP | c.6953C>A (p.Ala2318Glu) c.8282C>A (p.Ala2761Glu) c.6485C>A (p.Ala2162Glu) | |
| 6 | g.7585544C>G | CA362694826 | DSP | c.6953C>G (p.Ala2318Gly) c.8282C>G (p.Ala2761Gly) c.6485C>G (p.Ala2162Gly) | |
| 6 | g.7585544C>T | CA362694827 | DSP | c.6953C>T (p.Ala2318Val) c.8282C>T (p.Ala2761Val) c.6485C>T (p.Ala2162Val) | ClinVar |
| 6 | g.7585545A= | CA1608614863 | DSP | c.6954A= (p.Ala2318=) c.8283A= (p.Ala2761=) c.6486A= (p.Ala2162=) | |
| 6 | g.7585545A>C | CA448716838 | DSP | c.6954A>C (p.Ala2318=) c.8283A>C (p.Ala2761=) c.6486A>C (p.Ala2162=) | ClinVar dbSNP |
| 6 | g.7585545A>G | CA448716837 | DSP | c.6954A>G (p.Ala2318=) c.8283A>G (p.Ala2761=) c.6486A>G (p.Ala2162=) | |
| 6 | g.7585545A>T | CA448716836 | DSP | c.6954A>T (p.Ala2318=) c.8283A>T (p.Ala2761=) c.6486A>T (p.Ala2162=) | |
| 6 | g.7585546C>A | CA362694828 | DSP | c.6955C>A (p.Gln2319Lys) c.8284C>A (p.Gln2762Lys) c.6487C>A (p.Gln2163Lys) | gnomAD v4 |
| 6 | g.7585546C= | CA1608614867 | DSP | c.6955C= (p.Gln2319=) c.8284C= (p.Gln2762=) c.6487C= (p.Gln2163=) | |
| 6 | g.7585546C>G | CA133977668 | DSP | c.6955C>G (p.Gln2319Glu) c.8284C>G (p.Gln2762Glu) c.6487C>G (p.Gln2163Glu) | dbSNP gnomAD v4 |
| 6 | g.7585546C>T | CA362694829 | DSP | c.6955C>T (p.Gln2319Ter) c.8284C>T (p.Gln2762Ter) c.6487C>T (p.Gln2163Ter) | ClinVar dbSNP |
| 6 | g.7585546dup | CA2677221628 | DSP | c.6955dup (p.Gln2319ProfsTer25) c.8284dup (p.Gln2762ProfsTer25) c.6487dup (p.Gln2163ProfsTer25) | gnomAD v4 |
| 6 | g.7585547A>C | CA362694832 | DSP | c.6956A>C (p.Gln2319Pro) c.8285A>C (p.Gln2762Pro) c.6488A>C (p.Gln2163Pro) | |
| 6 | g.7585547A>G | CA362694830 | DSP | c.6956A>G (p.Gln2319Arg) c.8285A>G (p.Gln2762Arg) c.6488A>G (p.Gln2163Arg) | gnomAD v4 |
| 6 | g.7585547A>T | CA362694831 | DSP | c.6956A>T (p.Gln2319Leu) c.8285A>T (p.Gln2762Leu) c.6488A>T (p.Gln2163Leu) | |
| 6 | g.7585548G>A | CA448716840 | DSP | c.6957G>A (p.Gln2319=) c.8286G>A (p.Gln2762=) c.6489G>A (p.Gln2163=) | |
| 6 | g.7585548G>C | CA362694833 | DSP | c.6957G>C (p.Gln2319His) c.8286G>C (p.Gln2762His) c.6489G>C (p.Gln2163His) | |
| 6 | g.7585548G>T | CA362694834 | DSP | c.6957G>T (p.Gln2319His) c.8286G>T (p.Gln2762His) c.6489G>T (p.Gln2163His) | |
| 6 | g.7585549A>C | CA448716841 | DSP | c.6958A>C (p.Arg2320=) c.8287A>C (p.Arg2763=) c.6490A>C (p.Arg2164=) | |
| 6 | g.7585549A>G | CA362694835 | DSP | c.6958A>G (p.Arg2320Gly) c.8287A>G (p.Arg2763Gly) c.6490A>G (p.Arg2164Gly) | |
| 6 | g.7585549A>T | CA362694836 | DSP | c.6958A>T (p.Arg2320Trp) c.8287A>T (p.Arg2763Trp) c.6490A>T (p.Arg2164Trp) | |
| 6 | g.7585550G>A | CA362694837 | DSP | c.6959G>A (p.Arg2320Lys) c.8288G>A (p.Arg2763Lys) c.6491G>A (p.Arg2164Lys) | ClinVar gnomAD v4 |
| 6 | g.7585550G>C | CA362694838 | DSP | c.6959G>C (p.Arg2320Thr) c.8288G>C (p.Arg2763Thr) c.6491G>C (p.Arg2164Thr) | |
| 6 | g.7585550G= | CA1608614874 | DSP | c.6959G= (p.Arg2320=) c.8288G= (p.Arg2763=) c.6491G= (p.Arg2164=) | |
| 6 | g.7585550G>T | CA362694839 | DSP | c.6959G>T (p.Arg2320Met) c.8288G>T (p.Arg2763Met) c.6491G>T (p.Arg2164Met) | |
| 6 | g.7585551G>A | CA448716846 | DSP | c.6960G>A (p.Arg2320=) c.8289G>A (p.Arg2763=) c.6492G>A (p.Arg2164=) | |
| 6 | g.7585551G>C | CA362694840 | DSP | c.6960G>C (p.Arg2320Ser) c.8289G>C (p.Arg2763Ser) c.6492G>C (p.Arg2164Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585551G= | CA1608614880 | DSP | c.6960G= (p.Arg2320=) c.8289G= (p.Arg2763=) c.6492G= (p.Arg2164=) | |
| 6 | g.7585551G>T | CA362694841 | DSP | c.6960G>T (p.Arg2320Ser) c.8289G>T (p.Arg2763Ser) c.6492G>T (p.Arg2164Ser) | dbSNP |
| 6 | g.7585553_7585554insTGCT | CA051983 | DSP | c.6962_6963insTGCT (p.Gln2322AlafsTer23) c.8291_8292insTGCT (p.Gln2765AlafsTer23) c.6494_6495insTGCT (p.Gln2166AlafsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585551_7585560del | CA2677221644 | DSP | c.6960_6969del (p.Leu2321ProfsTer8) c.8289_8298del (p.Leu2764ProfsTer8) c.6492_6501del (p.Leu2165ProfsTer8) | gnomAD v4 |
| 6 | g.7585552C>A | CA362694842 | DSP | c.6961C>A (p.Leu2321Met) c.8290C>A (p.Leu2764Met) c.6493C>A (p.Leu2165Met) | |
| 6 | g.7585552C= | CA1608614889 | DSP | c.6961C= (p.Leu2321=) c.8290C= (p.Leu2764=) c.6493C= (p.Leu2165=) | |
| 6 | g.7585552C>G | CA362694843 | DSP | c.6961C>G (p.Leu2321Val) c.8290C>G (p.Leu2764Val) c.6493C>G (p.Leu2165Val) | |
| 6 | g.7585552C>T | CA448716848 | DSP | c.6961C>T (p.Leu2321=) c.8290C>T (p.Leu2764=) c.6493C>T (p.Leu2165=) | gnomAD v4 |
| 6 | g.7585553T>A | CA362694846 | DSP | c.6962T>A (p.Leu2321Gln) c.8291T>A (p.Leu2764Gln) c.6494T>A (p.Leu2165Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585553T>C | CA362694845 | DSP | c.6962T>C (p.Leu2321Pro) c.8291T>C (p.Leu2764Pro) c.6494T>C (p.Leu2165Pro) | |
| 6 | g.7585553T>G | CA362694844 | DSP | c.6962T>G (p.Leu2321Arg) c.8291T>G (p.Leu2764Arg) c.6494T>G (p.Leu2165Arg) | |
| 6 | g.7585553T= | CA1608614893 | DSP | c.6962T= (p.Leu2321=) c.8291T= (p.Leu2764=) c.6494T= (p.Leu2165=) | |
| 6 | g.7585555_7585556insTTGC | CA828146638 | DSP | c.6964_6965insTTGC (p.Gln2322LeufsTer23) c.8293_8294insTTGC (p.Gln2765LeufsTer23) c.6496_6497insTTGC (p.Gln2166LeufsTer23) | dbSNP |
| 6 | g.7585554G>A | CA448716852 | DSP | c.6963G>A (p.Leu2321=) c.8292G>A (p.Leu2764=) c.6495G>A (p.Leu2165=) | |
| 6 | g.7585554G>C | CA448716853 | DSP | c.6963G>C (p.Leu2321=) c.8292G>C (p.Leu2764=) c.6495G>C (p.Leu2165=) | |
| 6 | g.7585554G>T | CA448716855 | DSP | c.6963G>T (p.Leu2321=) c.8292G>T (p.Leu2764=) c.6495G>T (p.Leu2165=) | |
| 6 | g.7585555C>A | CA362694849 | DSP | c.6964C>A (p.Gln2322Lys) c.8293C>A (p.Gln2765Lys) c.6496C>A (p.Gln2166Lys) | |
| 6 | g.7585555C= | CA1608614896 | DSP | c.6964C= (p.Gln2322=) c.8293C= (p.Gln2765=) c.6496C= (p.Gln2166=) | |
| 6 | g.7585555C>G | CA362694847 | DSP | c.6964C>G (p.Gln2322Glu) c.8293C>G (p.Gln2765Glu) c.6496C>G (p.Gln2166Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585555C>T | CA362694848 | DSP | c.6964C>T (p.Gln2322Ter) c.8293C>T (p.Gln2765Ter) c.6496C>T (p.Gln2166Ter) | gnomAD v4 |
| 6 | g.7585556A>C | CA362694850 | DSP | c.6965A>C (p.Gln2322Pro) c.8294A>C (p.Gln2765Pro) c.6497A>C (p.Gln2166Pro) | |
| 6 | g.7585556A>G | CA362694851 | DSP | c.6965A>G (p.Gln2322Arg) c.8294A>G (p.Gln2765Arg) c.6497A>G (p.Gln2166Arg) | gnomAD v4 |
| 6 | g.7585556A>T | CA362694852 | DSP | c.6965A>T (p.Gln2322Leu) c.8294A>T (p.Gln2765Leu) c.6497A>T (p.Gln2166Leu) | |
| 6 | g.7585557A= | CA1608614900 | DSP | c.6966A= (p.Gln2322=) c.8295A= (p.Gln2765=) c.6498A= (p.Gln2166=) | |
| 6 | g.7585557A>C | CA362694853 | DSP | c.6966A>C (p.Gln2322His) c.8295A>C (p.Gln2765His) c.6498A>C (p.Gln2166His) | |
| 6 | g.7585557A>G | CA448716861 | DSP | c.6966A>G (p.Gln2322=) c.8295A>G (p.Gln2765=) c.6498A>G (p.Gln2166=) | dbSNP gnomAD v4 |
| 6 | g.7585557A>T | CA362694854 | DSP | c.6966A>T (p.Gln2322His) c.8295A>T (p.Gln2765His) c.6498A>T (p.Gln2166His) | |
| 6 | g.7585558G>A | CA362694857 | DSP | c.6967G>A (p.Asp2323Asn) c.8296G>A (p.Asp2766Asn) c.6499G>A (p.Asp2167Asn) | ClinVar dbSNP |
| 6 | g.7585558G>C | CA362694855 | DSP | c.6967G>C (p.Asp2323His) c.8296G>C (p.Asp2766His) c.6499G>C (p.Asp2167His) | |
| 6 | g.7585558G= | CA1608614901 | DSP | c.6967G= (p.Asp2323=) c.8296G= (p.Asp2766=) c.6499G= (p.Asp2167=) | |
| 6 | g.7585558G>T | CA362694856 | DSP | c.6967G>T (p.Asp2323Tyr) c.8296G>T (p.Asp2766Tyr) c.6499G>T (p.Asp2167Tyr) | |
| 6 | g.7585559A= | CA1608614903 | DSP | c.6968A= (p.Asp2323=) c.8297A= (p.Asp2766=) c.6500A= (p.Asp2167=) | |
| 6 | g.7585559A>C | CA362694858 | DSP | c.6968A>C (p.Asp2323Ala) c.8297A>C (p.Asp2766Ala) c.6500A>C (p.Asp2167Ala) | dbSNP |
| 6 | g.7585559A>G | CA362694859 | DSP | c.6968A>G (p.Asp2323Gly) c.8297A>G (p.Asp2766Gly) c.6500A>G (p.Asp2167Gly) | |
| 6 | g.7585559A>T | CA362694860 | DSP | c.6968A>T (p.Asp2323Val) c.8297A>T (p.Asp2766Val) c.6500A>T (p.Asp2167Val) | |
| 6 | g.7585560C>A | CA362694861 | DSP | c.6969C>A (p.Asp2323Glu) c.8298C>A (p.Asp2766Glu) c.6501C>A (p.Asp2167Glu) | |
| 6 | g.7585560C= | CA1608614909 | DSP | c.6969C= (p.Asp2323=) c.8298C= (p.Asp2766=) c.6501C= (p.Asp2167=) | |
| 6 | g.7585560C>G | CA051999 | DSP | c.6969C>G (p.Asp2323Glu) c.8298C>G (p.Asp2766Glu) c.6501C>G (p.Asp2167Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585560C>T | CA448716868 | DSP | c.6969C>T (p.Asp2323=) c.8298C>T (p.Asp2766=) c.6501C>T (p.Asp2167=) | |
| 6 | g.7585561A= | CA1608614911 | DSP | c.6970A= (p.Thr2324=) c.8299A= (p.Thr2767=) c.6502A= (p.Thr2168=) | |
| 6 | g.7585561A>C | CA362694864 | DSP | c.6970A>C (p.Thr2324Pro) c.8299A>C (p.Thr2767Pro) c.6502A>C (p.Thr2168Pro) | |
| 6 | g.7585561A>G | CA362694862 | DSP | c.6970A>G (p.Thr2324Ala) c.8299A>G (p.Thr2767Ala) c.6502A>G (p.Thr2168Ala) | ClinVar dbSNP |
| 6 | g.7585561A>T | CA362694863 | DSP | c.6970A>T (p.Thr2324Ser) c.8299A>T (p.Thr2767Ser) c.6502A>T (p.Thr2168Ser) | |
| 6 | g.7585562C>A | CA007447 | DSP | c.6971C>A (p.Thr2324Asn) c.8300C>A (p.Thr2767Asn) c.6503C>A (p.Thr2168Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585562C= | CA1608614916 | DSP | c.6971C= (p.Thr2324=) c.8300C= (p.Thr2767=) c.6503C= (p.Thr2168=) | |
| 6 | g.7585562C>G | CA362694865 | DSP | c.6971C>G (p.Thr2324Ser) c.8300C>G (p.Thr2767Ser) c.6503C>G (p.Thr2168Ser) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585562C>T | CA362694866 | DSP | c.6971C>T (p.Thr2324Ile) c.8300C>T (p.Thr2767Ile) c.6503C>T (p.Thr2168Ile) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585563C>A | CA448716873 | DSP | c.6972C>A (p.Thr2324=) c.8301C>A (p.Thr2767=) c.6504C>A (p.Thr2168=) | |
| 6 | g.7585563C= | CA1608614930 | DSP | c.6972C= (p.Thr2324=) c.8301C= (p.Thr2767=) c.6504C= (p.Thr2168=) | |
| 6 | g.7585563C>G | CA007457 | DSP | c.6972C>G (p.Thr2324=) c.8301C>G (p.Thr2767=) c.6504C>G (p.Thr2168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585563C>T | CA052037 | DSP | c.6972C>T (p.Thr2324=) c.8301C>T (p.Thr2767=) c.6504C>T (p.Thr2168=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585564A= | CA1608614935 | DSP | c.6973A= (p.Ser2325=) c.8302A= (p.Ser2768=) c.6505A= (p.Ser2169=) | |
| 6 | g.7585564A>C | CA362694867 | DSP | c.6973A>C (p.Ser2325Arg) c.8302A>C (p.Ser2768Arg) c.6505A>C (p.Ser2169Arg) | |
| 6 | g.7585564A>G | CA133977714 | DSP | c.6973A>G (p.Ser2325Gly) c.8302A>G (p.Ser2768Gly) c.6505A>G (p.Ser2169Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585564A>T | CA362694868 | DSP | c.6973A>T (p.Ser2325Cys) c.8302A>T (p.Ser2768Cys) c.6505A>T (p.Ser2169Cys) | |
| 6 | g.7585565G>A | CA362694869 | DSP | c.6974G>A (p.Ser2325Asn) c.8303G>A (p.Ser2768Asn) c.6506G>A (p.Ser2169Asn) | |
| 6 | g.7585565G>C | CA362694870 | DSP | c.6974G>C (p.Ser2325Thr) c.8303G>C (p.Ser2768Thr) c.6506G>C (p.Ser2169Thr) | |
| 6 | g.7585565G>T | CA362694871 | DSP | c.6974G>T (p.Ser2325Ile) c.8303G>T (p.Ser2768Ile) c.6506G>T (p.Ser2169Ile) | |
| 6 | g.7585566C>A | CA362694872 | DSP | c.6975C>A (p.Ser2325Arg) c.8304C>A (p.Ser2768Arg) c.6507C>A (p.Ser2169Arg) | dbSNP gnomAD v4 |
| 6 | g.7585566C= | CA1608614945 | DSP | c.6975C= (p.Ser2325=) c.8304C= (p.Ser2768=) c.6507C= (p.Ser2169=) | |
| 6 | g.7585566C>G | CA362694873 | DSP | c.6975C>G (p.Ser2325Arg) c.8304C>G (p.Ser2768Arg) c.6507C>G (p.Ser2169Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585566C>T | CA448716879 | DSP | c.6975C>T (p.Ser2325=) c.8304C>T (p.Ser2768=) c.6507C>T (p.Ser2169=) | gnomAD v4 |
| 6 | g.7585567A>C | CA362694874 | DSP | c.6976A>C (p.Ser2326Arg) c.8305A>C (p.Ser2769Arg) c.6508A>C (p.Ser2170Arg) | |
| 6 | g.7585567A>G | CA362694876 | DSP | c.6976A>G (p.Ser2326Gly) c.8305A>G (p.Ser2769Gly) c.6508A>G (p.Ser2170Gly) | ClinVar |
| 6 | g.7585567A>T | CA362694875 | DSP | c.6976A>T (p.Ser2326Cys) c.8305A>T (p.Ser2769Cys) c.6508A>T (p.Ser2170Cys) | |
| 6 | g.7585568G>A | CA362694877 | DSP | c.6977G>A (p.Ser2326Asn) c.8306G>A (p.Ser2769Asn) c.6509G>A (p.Ser2170Asn) | |
| 6 | g.7585568G>C | CA362694878 | DSP | c.6977G>C (p.Ser2326Thr) c.8306G>C (p.Ser2769Thr) c.6509G>C (p.Ser2170Thr) | gnomAD v4 |
| 6 | g.7585568G>T | CA362694879 | DSP | c.6977G>T (p.Ser2326Ile) c.8306G>T (p.Ser2769Ile) c.6509G>T (p.Ser2170Ile) | |
| 6 | g.7585569C>A | CA362694880 | DSP | c.6978C>A (p.Ser2326Arg) c.8307C>A (p.Ser2769Arg) c.6510C>A (p.Ser2170Arg) | |
| 6 | g.7585569C>G | CA362694881 | DSP | c.6978C>G (p.Ser2326Arg) c.8307C>G (p.Ser2769Arg) c.6510C>G (p.Ser2170Arg) | |
| 6 | g.7585569C>T | CA448716885 | DSP | c.6978C>T (p.Ser2326=) c.8307C>T (p.Ser2769=) c.6510C>T (p.Ser2170=) | |
| 6 | g.7585570T>A | CA362694884 | DSP | c.6979T>A (p.Tyr2327Asn) c.8308T>A (p.Tyr2770Asn) c.6511T>A (p.Tyr2171Asn) | |
| 6 | g.7585570T>C | CA362694883 | DSP | c.6979T>C (p.Tyr2327His) c.8308T>C (p.Tyr2770His) c.6511T>C (p.Tyr2171His) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585570T>G | CA362694882 | DSP | c.6979T>G (p.Tyr2327Asp) c.8308T>G (p.Tyr2770Asp) c.6511T>G (p.Tyr2171Asp) | |
| 6 | g.7585570T= | CA1608614948 | DSP | c.6979T= (p.Tyr2327=) c.8308T= (p.Tyr2770=) c.6511T= (p.Tyr2171=) | |
| 6 | g.7585571A= | CA1608614958 | DSP | c.6980A= (p.Tyr2327=) c.8309A= (p.Tyr2770=) c.6512A= (p.Tyr2171=) | |
| 6 | g.7585571A>C | CA362694885 | DSP | c.6980A>C (p.Tyr2327Ser) c.8309A>C (p.Tyr2770Ser) c.6512A>C (p.Tyr2171Ser) | |
| 6 | g.7585571A>G | CA052047 | DSP | c.6980A>G (p.Tyr2327Cys) c.8309A>G (p.Tyr2770Cys) c.6512A>G (p.Tyr2171Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585571A>T | CA362694886 | DSP | c.6980A>T (p.Tyr2327Phe) c.8309A>T (p.Tyr2770Phe) c.6512A>T (p.Tyr2171Phe) | |
| 6 | g.7585572T>A | CA362694887 | DSP | c.6981T>A (p.Tyr2327Ter) c.8310T>A (p.Tyr2770Ter) c.6513T>A (p.Tyr2171Ter) | ClinVar |
| 6 | g.7585572T>C | CA052058 | DSP | c.6981T>C (p.Tyr2327=) c.8310T>C (p.Tyr2770=) c.6513T>C (p.Tyr2171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585572T>G | CA362694888 | DSP | c.6981T>G (p.Tyr2327Ter) c.8310T>G (p.Tyr2770Ter) c.6513T>G (p.Tyr2171Ter) | |
| 6 | g.7585572T= | CA1608614960 | DSP | c.6981T= (p.Tyr2327=) c.8310T= (p.Tyr2770=) c.6513T= (p.Tyr2171=) | |
| 6 | g.7585573G>A | CA362694889 | DSP | c.6982G>A (p.Ala2328Thr) c.8311G>A (p.Ala2771Thr) c.6514G>A (p.Ala2172Thr) | |
| 6 | g.7585573G>C | CA362694891 | DSP | c.6982G>C (p.Ala2328Pro) c.8311G>C (p.Ala2771Pro) c.6514G>C (p.Ala2172Pro) | gnomAD v4 |
| 6 | g.7585573G>T | CA362694890 | DSP | c.6982G>T (p.Ala2328Ser) c.8311G>T (p.Ala2771Ser) c.6514G>T (p.Ala2172Ser) | gnomAD v4 |