Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418950_219418967dup | CA916081390 | DES | c.488_505dup (p.Val168_Leu169insArgArgGlnValGluVal) c.488_495+10dup | ClinVar dbSNP |
2 | g.219418954_219418982delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG | CA1329210109 | DES | c.492_520delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG (p.Arg164=) c.492_495+25delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG | |
2 | g.219418955_219418982delinsGCGT | CA645369281 | DES | c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) c.493_495+25delinsGCGT | ClinVar dbSNP |
2 | g.219418957G>A | CA431427897 | DES | c.495G>A (p.Gln165=) | gnomAD v4 |
2 | g.219418957G>C | CA350686655 | DES | c.495G>C (p.Gln165His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418957G= | CA1329210111 | DES | c.495G= (p.Gln165=) | |
2 | g.219418957G>T | CA350686657 | DES | c.495G>T (p.Gln165His) | gnomAD v4 |
2 | g.219418958G>A | CA350686662 | DES | c.496G>A (p.Val166Met) c.495+1G>A (n.495+1G>A) | |
2 | g.219418958G>C | CA350686664 | DES | c.496G>C (p.Val166Leu) c.495+1G>C (n.495+1G>C) | |
2 | g.219418958G>T | CA350686669 | DES | c.496G>T (p.Val166Leu) c.495+1G>T (n.495+1G>T) | gnomAD v4 |
2 | g.219418959T>A | CA350686672 | DES | c.497T>A (p.Val166Glu) c.495+2T>A (n.495+2T>A) | |
2 | g.219418959T>C | CA350686675 | DES | c.497T>C (p.Val166Ala) c.495+2T>C (n.495+2T>C) | |
2 | g.219418959T>G | CA350686679 | DES | c.497T>G (p.Val166Gly) c.495+2T>G (n.495+2T>G) | gnomAD v4 |
2 | g.219418960G>A | CA431427901 | DES | c.498G>A (p.Val166=) c.495+3G>A (n.495+3G>A) | |
2 | g.219418960G>C | CA431427902 | DES | c.498G>C (p.Val166=) c.495+3G>C (n.495+3G>C) | |
2 | g.219418960G>T | CA431427903 | DES | c.498G>T (p.Val166=) c.495+3G>T (n.495+3G>T) | |
2 | g.219418961G>A | CA350686688 | DES | c.499G>A (p.Glu167Lys) c.495+4G>A (n.495+4G>A) | gnomAD v4 |
2 | g.219418961G>C | CA350686685 | DES | c.499G>C (p.Glu167Gln) c.495+4G>C (n.495+4G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.219418961G= | CA1329210112 | DES | c.499G= (p.Glu167=) c.495+4G= (n.495+4G=) | |
2 | g.219418961G>T | CA350686682 | DES | c.499G>T (p.Glu167Ter) c.495+4G>T (n.495+4G>T) | |
2 | g.219418962A= | CA1329210113 | DES | c.500A= (p.Glu167=) c.495+5A= (n.495+5A=) | |
2 | g.219418962A>C | CA350686691 | DES | c.500A>C (p.Glu167Ala) c.495+5A>C (n.495+5A>C) | |
2 | g.219418962A>G | CA350686692 | DES | c.500A>G (p.Glu167Gly) c.495+5A>G (n.495+5A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.219418962A>T | CA350686694 | DES | c.500A>T (p.Glu167Val) c.495+5A>T (n.495+5A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.219418963G>A | CA431427907 | DES | c.501G>A (p.Glu167=) c.495+6G>A (n.495+6G>A) | |
2 | g.219418963G>C | CA350686698 | DES | c.501G>C (p.Glu167Asp) c.495+6G>C (n.495+6G>C) | |
2 | g.219418963G= | CA1329210114 | DES | c.501G= (p.Glu167=) c.495+6G= (n.495+6G=) | |
2 | g.219418963G>T | CA350686701 | DES | c.501G>T (p.Glu167Asp) c.495+6G>T (n.495+6G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418964G>A | CA350686705 | DES | c.502G>A (p.Val168Met) c.495+7G>A (n.495+7G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418964G>C | CA350686708 | DES | c.502G>C (p.Val168Leu) c.495+7G>C (n.495+7G>C) | |
2 | g.219418964G= | CA1329210115 | DES | c.502G= (p.Val168=) c.495+7G= (n.495+7G=) | |
2 | g.219418964G>T | CA350686710 | DES | c.502G>T (p.Val168Leu) c.495+7G>T (n.495+7G>T) | |
2 | g.219418965T>A | CA350686715 | DES | c.503T>A (p.Val168Glu) c.495+8T>A (n.495+8T>A) | |
2 | g.219418965T>C | CA350686718 | DES | c.503T>C (p.Val168Ala) c.495+8T>C (n.495+8T>C) | |
2 | g.219418965T>G | CA350686719 | DES | c.503T>G (p.Val168Gly) c.495+8T>G (n.495+8T>G) | |
2 | g.219418966G>A | CA431427909 | DES | c.504G>A (p.Val168=) c.495+9G>A (n.495+9G>A) | gnomAD v4 |
2 | g.219418966G>C | CA431427910 | DES | c.504G>C (p.Val168=) c.495+9G>C (n.495+9G>C) | dbSNP |
2 | g.219418966G= | CA1329210116 | DES | c.504G= (p.Val168=) c.495+9G= (n.495+9G=) | |
2 | g.219418966G>T | CA431427911 | DES | c.504G>T (p.Val168=) c.495+9G>T (n.495+9G>T) | |
2 | g.219418967C>A | CA350686727 | DES | c.505C>A (p.Leu169Ile) c.495+10C>A (n.495+10C>A) | gnomAD v4 |
2 | g.219418967C= | CA1329210117 | DES | c.505C= (p.Leu169=) c.495+10C= (n.495+10C=) | |
2 | g.219418967C>G | CA350686726 | DES | c.505C>G (p.Leu169Val) c.495+10C>G (n.495+10C>G) | |
2 | g.219418967C>T | CA350686724 | DES | c.505C>T (p.Leu169Phe) c.495+10C>T (n.495+10C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418968T>A | CA350686729 | DES | c.506T>A (p.Leu169His) c.495+11T>A (n.495+11T>A) | |
2 | g.219418968T>C | CA350686732 | DES | c.506T>C (p.Leu169Pro) c.495+11T>C (n.495+11T>C) | gnomAD v4 |
2 | g.219418968T>G | CA350686735 | DES | c.506T>G (p.Leu169Arg) c.495+11T>G (n.495+11T>G) | |
2 | g.219418969C>A | CA431427915 | DES | c.507C>A (p.Leu169=) c.495+12C>A (n.495+12C>A) | |
2 | g.219418969C>G | CA431427913 | DES | c.507C>G (p.Leu169=) c.495+12C>G (n.495+12C>G) | |
2 | g.219418969C>T | CA431427914 | DES | c.507C>T (p.Leu169=) c.495+12C>T (n.495+12C>T) | gnomAD v4 |
2 | g.219418970A>C | CA350686739 | DES | c.508A>C (p.Thr170Pro) c.495+13A>C (n.495+13A>C) | |
2 | g.219418970A>G | CA350686742 | DES | c.508A>G (p.Thr170Ala) c.495+13A>G (n.495+13A>G) | gnomAD v4 |
2 | g.219418970A>T | CA350686744 | DES | c.508A>T (p.Thr170Ser) c.495+13A>T (n.495+13A>T) | |
2 | g.219418971del | CA2663250410 | DES | c.509del (p.Thr170IlefsTer?) c.495+14del (n.495+14del) | gnomAD v4 |
2 | g.219418971C>A | CA350686748 | DES | c.509C>A (p.Thr170Asn) c.495+14C>A (n.495+14C>A) | gnomAD v4 |
2 | g.219418971C= | CA1329210118 | DES | c.509C= (p.Thr170=) c.495+14C= (n.495+14C=) | |
2 | g.219418971C>G | CA350686751 | DES | c.509C>G (p.Thr170Ser) c.495+14C>G (n.495+14C>G) | |
2 | g.219418971C>T | CA350686754 | DES | c.509C>T (p.Thr170Ile) c.495+14C>T (n.495+14C>T) | dbSNP gnomAD v4 |
2 | g.219418972T>A | CA431427916 | DES | c.510T>A (p.Thr170=) c.495+15T>A (n.495+15T>A) | |
2 | g.219418972T>C | CA431427917 | DES | c.510T>C (p.Thr170=) c.495+15T>C (n.495+15T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.219418972T>G | CA431427918 | DES | c.510T>G (p.Thr170=) c.495+15T>G (n.495+15T>G) | |
2 | g.219418972T= | CA1329210119 | DES | c.510T= (p.Thr170=) c.495+15T= (n.495+15T=) | |
2 | g.219418973A>C | CA350686757 | DES | c.511A>C (p.Asn171His) c.495+16A>C (n.495+16A>C) | |
2 | g.219418973A>G | CA350686758 | DES | c.511A>G (p.Asn171Asp) c.495+16A>G (n.495+16A>G) | gnomAD v4 |
2 | g.219418973A>T | CA350686760 | DES | c.511A>T (p.Asn171Tyr) c.495+16A>T (n.495+16A>T) | gnomAD v4 |
2 | g.219418974A>C | CA350686771 | DES | c.512A>C (p.Asn171Thr) c.495+17A>C (n.495+17A>C) | ClinVar |
2 | g.219418974A>G | CA350686768 | DES | c.512A>G (p.Asn171Ser) c.495+17A>G (n.495+17A>G) | gnomAD v4 |
2 | g.219418974A>T | CA350686764 | DES | c.512A>T (p.Asn171Ile) c.495+17A>T (n.495+17A>T) | |
2 | g.219418975C>A | CA350686774 | DES | c.513C>A (p.Asn171Lys) c.495+18C>A (n.495+18C>A) | gnomAD v4 |
2 | g.219418975C>G | CA350686776 | DES | c.513C>G (p.Asn171Lys) c.495+18C>G (n.495+18C>G) | |
2 | g.219418975C>T | CA431427919 | DES | c.513C>T (p.Asn171=) c.495+18C>T (n.495+18C>T) | |
2 | g.219418976del | CA2663250414 | DES | c.514del (p.Gln172SerfsTer29) c.495+19del (n.495+19del) | gnomAD v4 |
2 | g.219418976C>A | CA350686780 | DES | c.514C>A (p.Gln172Lys) c.495+19C>A (n.495+19C>A) | gnomAD v4 |
2 | g.219418976C= | CA1329210121 | DES | c.514C= (p.Gln172=) c.495+19C= (n.495+19C=) | |
2 | g.219418976C>G | CA350686783 | DES | c.514C>G (p.Gln172Glu) c.495+19C>G (n.495+19C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418976C>T | CA350686786 | DES | c.514C>T (p.Gln172Ter) c.495+19C>T (n.495+19C>T) | ClinVar dbSNP |
2 | g.219418976_219418997delinsCAGCGCGCGCGCGTCGACGTCG | CA1329210120 | DES | c.514_535delinsCAGCGCGCGCGCGTCGACGTCG (p.Gln172=) c.495+19_495+40delinsCAGCGCGCGCGCGTCGACGTCG (n.495+19_495+40delinsCAGCGCGCGCGCGTCGACGTCG) | |
2 | g.219418977A>C | CA350686790 | DES | c.515A>C (p.Gln172Pro) c.495+20A>C (n.495+20A>C) | ClinVar dbSNP |
2 | g.219418977A>G | CA350686793 | DES | c.515A>G (p.Gln172Arg) c.495+20A>G (n.495+20A>G) | gnomAD v4 |
2 | g.219418977A>T | CA350686796 | DES | c.515A>T (p.Gln172Leu) c.495+20A>T (n.495+20A>T) | ClinVar gnomAD v4 |
2 | g.219418977_219418979delinsAGC | CA1329210122 | DES | c.515_517delinsAGC (p.Gln172=) c.495+20_495+22delinsAGC (n.495+20_495+22delinsAGC) | |
2 | g.219418983_219419003del | CA217075 | DES | c.521_541del (p.Ala174_Arg180del) c.495+26_495+46del (n.495+26_495+46del) | ClinVar dbSNP |
2 | g.219418978G>A | CA65981284 | DES | c.516G>A (p.Gln172=) c.495+21G>A (n.495+21G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418978G>C | CA350686804 | DES | c.516G>C (p.Gln172His) c.495+21G>C (n.495+21G>C) | gnomAD v4 |
2 | g.219418978G= | CA1329210123 | DES | c.516G= (p.Gln172=) c.495+21G= (n.495+21G=) | |
2 | g.219418978G>T | CA350686815 | DES | c.516G>T (p.Gln172His) c.495+21G>T (n.495+21G>T) | COSMIC |
2 | g.219418987_219418988dup | CA2580616703 | DES | c.525_526dup (p.Val176AlafsTer26) c.495+30_495+31dup (n.495+30_495+31dup) | ClinVar |
2 | g.219418987_219418988del | CA2125073 | DES | c.525_526del (p.Val176ArgfsTer?) c.495+30_495+31del (n.495+30_495+31del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418979C>A | CA2125074 | DES | c.517C>A (p.Arg173Ser) c.495+22C>A (n.495+22C>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.219418979C= | CA1329210124 | DES | c.517C= (p.Arg173=) c.495+22C= (n.495+22C=) | |
2 | g.219418979C>G | CA350686826 | DES | c.517C>G (p.Arg173Gly) c.495+22C>G (n.495+22C>G) | ClinVar |
2 | g.219418979C>T | CA350686823 | DES | c.517C>T (p.Arg173Cys) c.495+22C>T (n.495+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418980G>A | CA65981288 | DES | c.518G>A (p.Arg173His) c.495+23G>A (n.495+23G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418980G>C | CA350686829 | DES | c.518G>C (p.Arg173Pro) c.495+23G>C (n.495+23G>C) | |
2 | g.219418980G= | CA1329210125 | DES | c.518G= (p.Arg173=) c.495+23G= (n.495+23G=) | |
2 | g.219418980G>T | CA350686832 | DES | c.518G>T (p.Arg173Leu) c.495+23G>T (n.495+23G>T) | gnomAD v4 |
2 | g.219418985_219419003del | CA2663250435 | DES | c.523_541del (p.Arg175ThrfsTer20) c.495+28_495+46del (n.495+28_495+46del) | gnomAD v4 |
2 | g.219418981C>A | CA431427925 | DES | c.519C>A (p.Arg173=) c.495+24C>A (n.495+24C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.219418981C= | CA1329210126 | DES | c.519C= (p.Arg173=) c.495+24C= (n.495+24C=) | |
2 | g.219418981C>G | CA2125075 | DES | c.519C>G (p.Arg173=) c.495+24C>G (n.495+24C>G) | dbSNP ExAC gnomAD v2 |
2 | g.219418981C>T | CA431427927 | DES | c.519C>T (p.Arg173=) c.495+24C>T (n.495+24C>T) | gnomAD v4 |
2 | g.219418982G>A | CA350686838 | DES | c.520G>A (p.Ala174Thr) c.495+25G>A (n.495+25G>A) | ClinVar gnomAD v4 |
2 | g.219418982G>C | CA2125076 | DES | c.520G>C (p.Ala174Pro) c.495+25G>C (n.495+25G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418982G= | CA1329210127 | DES | c.520G= (p.Ala174=) c.495+25G= (n.495+25G=) | |
2 | g.219418982G>T | CA350686842 | DES | c.520G>T (p.Ala174Ser) c.495+25G>T (n.495+25G>T) | gnomAD v4 |
2 | g.219418983C>A | CA350686850 | DES | c.521C>A (p.Ala174Glu) c.495+26C>A (n.495+26C>A) | gnomAD v4 |
2 | g.219418983C= | CA1329210128 | DES | c.521C= (p.Ala174=) c.495+26C= (n.495+26C=) | |
2 | g.219418983C>G | CA350686847 | DES | c.521C>G (p.Ala174Gly) c.495+26C>G (n.495+26C>G) | |
2 | g.219418983C>T | CA350686844 | DES | c.521C>T (p.Ala174Val) c.495+26C>T (n.495+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418984G>A | CA431427928 | DES | c.522G>A (p.Ala174=) c.495+27G>A (n.495+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418984G>C | CA431427929 | DES | c.522G>C (p.Ala174=) c.495+27G>C (n.495+27G>C) | ClinVar dbSNP |
2 | g.219418984G= | CA1329210129 | DES | c.522G= (p.Ala174=) c.495+27G= (n.495+27G=) | |
2 | g.219418984G>T | CA431427930 | DES | c.522G>T (p.Ala174=) c.495+27G>T (n.495+27G>T) | gnomAD v4 |
2 | g.219418985C>A | CA350686853 | DES | c.523C>A (p.Arg175Ser) c.495+28C>A (n.495+28C>A) | gnomAD v4 |
2 | g.219418985C= | CA1329210130 | DES | c.523C= (p.Arg175=) c.495+28C= (n.495+28C=) | |
2 | g.219418985C>G | CA350686857 | DES | c.523C>G (p.Arg175Gly) c.495+28C>G (n.495+28C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418985C>T | CA350686859 | DES | c.523C>T (p.Arg175Cys) c.495+28C>T (n.495+28C>T) | gnomAD v4 COSMIC |
2 | g.219418986G>A | CA10581948 | DES | c.524G>A (p.Arg175His) c.495+29G>A (n.495+29G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418986G>C | CA350686867 | DES | c.524G>C (p.Arg175Pro) c.495+29G>C (n.495+29G>C) | |
2 | g.219418986G= | CA1329210131 | DES | c.524G= (p.Arg175=) c.495+29G= (n.495+29G=) | |
2 | g.219418986G>T | CA350686870 | DES | c.524G>T (p.Arg175Leu) c.495+29G>T (n.495+29G>T) | gnomAD v4 |
2 | g.219418986_219418988del | CA2577252533 | DES | c.524_526del (p.Arg175_Val176delinsLeu) c.495+29_495+31del (n.495+29_495+31del) | |
2 | g.219418987C>A | CA431427933 | DES | c.525C>A (p.Arg175=) c.495+30C>A (n.495+30C>A) | ClinVar dbSNP |
2 | g.219418987C= | CA1329210132 | DES | c.525C= (p.Arg175=) c.495+30C= (n.495+30C=) | |
2 | g.219418987C>G | CA431427934 | DES | c.525C>G (p.Arg175=) c.495+30C>G (n.495+30C>G) | |
2 | g.219418987C>T | CA431427935 | DES | c.525C>T (p.Arg175=) c.495+30C>T (n.495+30C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418988G>A | CA350686874 | DES | c.526G>A (p.Val176Ile) c.495+31G>A (n.495+31G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418988G>C | CA350686881 | DES | c.526G>C (p.Val176Leu) c.495+31G>C (n.495+31G>C) | dbSNP |
2 | g.219418988G= | CA1329210133 | DES | c.526G= (p.Val176=) c.495+31G= (n.495+31G=) | |
2 | g.219418988G>T | CA350686878 | DES | c.526G>T (p.Val176Phe) c.495+31G>T (n.495+31G>T) | |
2 | g.219418989T>A | CA350686886 | DES | c.527T>A (p.Val176Asp) c.495+32T>A (n.495+32T>A) | |
2 | g.219418989T>C | CA350686889 | DES | c.527T>C (p.Val176Ala) c.495+32T>C (n.495+32T>C) | gnomAD v4 |
2 | g.219418989T>G | CA350686892 | DES | c.527T>G (p.Val176Gly) c.495+32T>G (n.495+32T>G) | |
2 | g.219418990C>A | CA431427936 | DES | c.528C>A (p.Val176=) c.495+33C>A (n.495+33C>A) | gnomAD v4 |
2 | g.219418990C= | CA1329210134 | DES | c.528C= (p.Val176=) c.495+33C= (n.495+33C=) | |
2 | g.219418990C>G | CA16604070 | DES | c.528C>G (p.Val176=) c.495+33C>G (n.495+33C>G) | ClinVar dbSNP |
2 | g.219418990C>T | CA431427937 | DES | c.528C>T (p.Val176=) c.495+33C>T (n.495+33C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.219418991G>A | CA16604072 | DES | c.529G>A (p.Asp177Asn) c.495+34G>A (n.495+34G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.219418991G>C | CA350686897 | DES | c.529G>C (p.Asp177His) c.495+34G>C (n.495+34G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418991G= | CA1329210135 | DES | c.529G= (p.Asp177=) c.495+34G= (n.495+34G=) | |
2 | g.219418991G>T | CA350686899 | DES | c.529G>T (p.Asp177Tyr) c.495+34G>T (n.495+34G>T) | gnomAD v4 |
2 | g.219418992A>C | CA350686902 | DES | c.530A>C (p.Asp177Ala) c.495+35A>C (n.495+35A>C) | |
2 | g.219418992A>G | CA350686904 | DES | c.530A>G (p.Asp177Gly) c.495+35A>G (n.495+35A>G) | |
2 | g.219418992A>T | CA350686906 | DES | c.530A>T (p.Asp177Val) c.495+35A>T (n.495+35A>T) | |
2 | g.219418993C>A | CA350686912 | DES | c.531C>A (p.Asp177Glu) c.495+36C>A (n.495+36C>A) | gnomAD v4 |
2 | g.219418993C>G | CA350686914 | DES | c.531C>G (p.Asp177Glu) c.495+36C>G (n.495+36C>G) | |
2 | g.219418993C>T | CA431427938 | DES | c.531C>T (p.Asp177=) c.495+36C>T (n.495+36C>T) | gnomAD v4 |
2 | g.219418994del | CA2663250456 | DES | c.532del (p.Val178SerfsTer23) c.495+37del (n.495+37del) | gnomAD v4 |
2 | g.219418994G>A | CA350686919 | DES | c.532G>A (p.Val178Ile) c.495+37G>A (n.495+37G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418994G>C | CA350686924 | DES | c.532G>C (p.Val178Leu) c.495+37G>C (n.495+37G>C) | |
2 | g.219418994G= | CA1329210136 | DES | c.532G= (p.Val178=) c.495+37G= (n.495+37G=) | |
2 | g.219418994G>T | CA350686921 | DES | c.532G>T (p.Val178Phe) c.495+37G>T (n.495+37G>T) | |
2 | g.219418994_219419009delinsGTCGAGCGCGACAACC | CA1329210137 | DES | c.532_547delinsGTCGAGCGCGACAACC (p.Val178=) c.495+37_495+52delinsGTCGAGCGCGACAACC (n.495+37_495+52delinsGTCGAGCGCGACAACC) | |
2 | g.219418994_219419012delinsGTCGAGCGCGACAACCTGC | CA1329210138 | DES | c.532_550delinsGTCGAGCGCGACAACCTGC (p.Val178=) c.495+37_495+55delinsGTCGAGCGCGACAACCTGC (n.495+37_495+55delinsGTCGAGCGCGACAACCTGC) | |
2 | g.219418995T>A | CA350686929 | DES | c.533T>A (p.Val178Asp) c.495+38T>A (n.495+38T>A) | |
2 | g.219418995T>C | CA350686931 | DES | c.533T>C (p.Val178Ala) c.495+38T>C (n.495+38T>C) | dbSNP gnomAD v4 |
2 | g.219418995T>G | CA350686935 | DES | c.533T>G (p.Val178Gly) c.495+38T>G (n.495+38T>G) | |
2 | g.219418995T= | CA1329210140 | DES | c.533T= (p.Val178=) c.495+38T= (n.495+38T=) | |
2 | g.219418996_219419010del | CA1329210139 | DES | c.534_548del (p.Glu179_Leu183del) c.495+39_495+53del (n.495+39_495+53del) | dbSNP |
2 | g.219418999_219419016del | CA539843108 | DES | c.537_554del (p.Glu179_Leu184del) c.495+42_495+59del (n.495+42_495+59del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418996C>A | CA431427942 | DES | c.534C>A (p.Val178=) c.495+39C>A (n.495+39C>A) | dbSNP gnomAD v4 |
2 | g.219418996C= | CA1329210141 | DES | c.534C= (p.Val178=) c.495+39C= (n.495+39C=) | |
2 | g.219418996C>G | CA431427943 | DES | c.534C>G (p.Val178=) c.495+39C>G (n.495+39C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418996C>T | CA431427944 | DES | c.534C>T (p.Val178=) c.495+39C>T (n.495+39C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418999_219419004dup | CA2580065793 | DES | c.537_542dup (p.Arg180_Asp181insGluArg) c.495+42_495+47dup (n.495+42_495+47dup) | ClinVar |
2 | g.219418997G>A | CA350686939 | DES | c.535G>A (p.Glu179Lys) c.495+40G>A (n.495+40G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418997G>C | CA350686942 | DES | c.535G>C (p.Glu179Gln) c.495+40G>C (n.495+40G>C) | gnomAD v4 |
2 | g.219418997G= | CA1329210142 | DES | c.535G= (p.Glu179=) c.495+40G= (n.495+40G=) | |
2 | g.219418997G>T | CA350686946 | DES | c.535G>T (p.Glu179Ter) c.495+40G>T (n.495+40G>T) | gnomAD v4 |
2 | g.219418998_219419011del | CA2663250457 | DES | c.536_549del (p.Glu179AlafsTer?) c.495+41_495+54del (n.495+41_495+54del) | gnomAD v4 |
2 | g.219418998A= | CA1329210143 | DES | c.536A= (p.Glu179=) c.495+41A= (n.495+41A=) | |
2 | g.219418998A>C | CA350686950 | DES | c.536A>C (p.Glu179Ala) c.495+41A>C (n.495+41A>C) | |
2 | g.219418998A>G | CA350686952 | DES | c.536A>G (p.Glu179Gly) c.495+41A>G (n.495+41A>G) | |
2 | g.219418998A>T | CA350686956 | DES | c.536A>T (p.Glu179Val) c.495+41A>T (n.495+41A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418999G>A | CA431427945 | DES | c.537G>A (p.Glu179=) c.495+42G>A (n.495+42G>A) | dbSNP |
2 | g.219418999G>C | CA350686960 | DES | c.537G>C (p.Glu179Asp) c.495+42G>C (n.495+42G>C) | |
2 | g.219418999G>T | CA350686963 | DES | c.537G>T (p.Glu179Asp) c.495+42G>T (n.495+42G>T) | gnomAD v4 |
2 | g.219419000C>A | CA350686973 | DES | c.538C>A (p.Arg180Ser) c.495+43C>A (n.495+43C>A) | gnomAD v4 |
2 | g.219419000C>G | CA350686970 | DES | c.538C>G (p.Arg180Gly) c.495+43C>G (n.495+43C>G) | |
2 | g.219419000C>T | CA350686968 | DES | c.538C>T (p.Arg180Cys) c.495+43C>T (n.495+43C>T) | gnomAD v4 |
2 | g.219419001G>A | CA350686976 | DES | c.539G>A (p.Arg180His) c.495+44G>A (n.495+44G>A) | gnomAD v4 |
2 | g.219419001G>C | CA350686977 | DES | c.539G>C (p.Arg180Pro) c.495+44G>C (n.495+44G>C) | |
2 | g.219419001G= | CA1329210144 | DES | c.539G= (p.Arg180=) c.495+44G= (n.495+44G=) | |
2 | g.219419001G>T | CA2125077 | DES | c.539G>T (p.Arg180Leu) c.495+44G>T (n.495+44G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219419001_219419013delinsGCGACAACCTGCT | CA1329210145 | DES | c.539_551delinsGCGACAACCTGCT (p.Arg180=) c.495+44_495+56delinsGCGACAACCTGCT (n.495+44_495+56delinsGCGACAACCTGCT) | |
2 | g.219419002C>A | CA431427948 | DES | c.540C>A (p.Arg180=) c.495+45C>A (n.495+45C>A) | gnomAD v4 |
2 | g.219419002C= | CA1329210146 | DES | c.540C= (p.Arg180=) c.495+45C= (n.495+45C=) | |
2 | g.219419002C>G | CA431427949 | DES | c.540C>G (p.Arg180=) c.495+45C>G (n.495+45C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419002C>T | CA2125078 | DES | c.540C>T (p.Arg180=) c.495+45C>T (n.495+45C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419006_219419017del | CA916081392 | DES | c.544_555del (p.Asn182_Asp185del) c.495+49_495+60del (n.495+49_495+60del) | ClinVar dbSNP |
2 | g.219419006_219419020del | CA2580065795 | DES | c.544_558del (p.Asn182_Asp186del) c.495+49_495+63del (n.495+49_495+63del) | ClinVar |
2 | g.219419003G>A | CA350686998 | DES | c.541G>A (p.Asp181Asn) c.495+46G>A (n.495+46G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419003G>C | CA350686999 | DES | c.541G>C (p.Asp181His) c.495+46G>C (n.495+46G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.219419003G= | CA1329210147 | DES | c.541G= (p.Asp181=) c.495+46G= (n.495+46G=) | |
2 | g.219419003G>T | CA350687002 | DES | c.541G>T (p.Asp181Tyr) c.495+46G>T (n.495+46G>T) | gnomAD v4 |
2 | g.219419004A>C | CA350687007 | DES | c.542A>C (p.Asp181Ala) c.495+47A>C (n.495+47A>C) | |
2 | g.219419004A>G | CA350687009 | DES | c.542A>G (p.Asp181Gly) c.495+47A>G (n.495+47A>G) | |
2 | g.219419004A>T | CA350687012 | DES | c.542A>T (p.Asp181Val) c.495+47A>T (n.495+47A>T) | |
2 | g.219419004_219419012del | CA2580065797 | DES | c.542_550del (p.Asp181_Leu184delinsVal) c.495+47_495+55del (n.495+47_495+55del) | ClinVar |
2 | g.219419005C>A | CA350687017 | DES | c.543C>A (p.Asp181Glu) c.495+48C>A (n.495+48C>A) | gnomAD v4 |
2 | g.219419005C= | CA1329210148 | DES | c.543C= (p.Asp181=) c.495+48C= (n.495+48C=) | |
2 | g.219419005C>G | CA350687020 | DES | c.543C>G (p.Asp181Glu) c.495+48C>G (n.495+48C>G) | ClinVar gnomAD v4 |
2 | g.219419005C>T | CA431427950 | DES | c.543C>T (p.Asp181=) c.495+48C>T (n.495+48C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.219419006A= | CA1329210149 | DES | c.544A= (p.Asn182=) c.495+49A= (n.495+49A=) | |
2 | g.219419006A>C | CA350687027 | DES | c.544A>C (p.Asn182His) c.495+49A>C (n.495+49A>C) | dbSNP gnomAD v4 |
2 | g.219419006A>G | CA350687030 | DES | c.544A>G (p.Asn182Asp) c.495+49A>G (n.495+49A>G) | |
2 | g.219419006A>T | CA350687024 | DES | c.544A>T (p.Asn182Tyr) c.495+49A>T (n.495+49A>T) | |
2 | g.219419007A= | CA1329210150 | DES | c.545A= (p.Asn182=) c.495+50A= (n.495+50A=) | |
2 | g.219419007A>C | CA350687038 | DES | c.545A>C (p.Asn182Thr) c.495+50A>C (n.495+50A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419007A>G | CA350687032 | DES | c.545A>G (p.Asn182Ser) c.495+50A>G (n.495+50A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419007A>T | CA350687035 | DES | c.545A>T (p.Asn182Ile) c.495+50A>T (n.495+50A>T) | |
2 | g.219419008C>A | CA350687042 | DES | c.546C>A (p.Asn182Lys) c.495+51C>A (n.495+51C>A) | gnomAD v4 |
2 | g.219419008C= | CA1329210151 | DES | c.546C= (p.Asn182=) c.495+51C= (n.495+51C=) | |
2 | g.219419008C>G | CA350687045 | DES | c.546C>G (p.Asn182Lys) c.495+51C>G (n.495+51C>G) | dbSNP gnomAD v4 |
2 | g.219419008C>T | CA431427951 | DES | c.546C>T (p.Asn182=) c.495+51C>T (n.495+51C>T) | gnomAD v4 |
2 | g.219419009del | CA2663250458 | DES | c.547del (p.Leu183CysfsTer18) c.495+52del (n.495+52del) | gnomAD v4 |
2 | g.219419009C>A | CA350687049 | DES | c.547C>A (p.Leu183Met) c.495+52C>A (n.495+52C>A) | gnomAD v4 |
2 | g.219419009C>G | CA350687050 | DES | c.547C>G (p.Leu183Val) c.495+52C>G (n.495+52C>G) | |
2 | g.219419009C>T | CA431427952 | DES | c.547C>T (p.Leu183=) c.495+52C>T (n.495+52C>T) | gnomAD v4 |
2 | g.219419010T>A | CA350687054 | DES | c.548T>A (p.Leu183Gln) c.495+53T>A (n.495+53T>A) | |
2 | g.219419010T>C | CA350687057 | DES | c.548T>C (p.Leu183Pro) c.495+53T>C (n.495+53T>C) | gnomAD v4 |
2 | g.219419010T>G | CA350687059 | DES | c.548T>G (p.Leu183Arg) c.495+53T>G (n.495+53T>G) | |
2 | g.219419011G>A | CA431284037 | DES | c.549G>A (p.Leu183=) c.495+54G>A (n.495+54G>A) | |
2 | g.219419011G>C | CA431284036 | DES | c.549G>C (p.Leu183=) c.495+54G>C (n.495+54G>C) | |
2 | g.219419011G>T | CA431284035 | DES | c.549G>T (p.Leu183=) c.495+54G>T (n.495+54G>T) | gnomAD v4 |
2 | g.219419011_219419026del | CA2740096473 | DES | c.549_564del (p.Leu184GlyfsTer12) c.495+54_495+69del (n.495+54_495+69del) | ClinVar |
2 | g.219419012C>A | CA350687062 | DES | c.550C>A (p.Leu184Ile) c.495+55C>A (n.495+55C>A) | gnomAD v4 |
2 | g.219419012C= | CA1329210152 | DES | c.550C= (p.Leu184=) c.495+55C= (n.495+55C=) | |
2 | g.219419012C>G | CA350687068 | DES | c.550C>G (p.Leu184Val) c.495+55C>G (n.495+55C>G) | |
2 | g.219419012C>T | CA350687071 | DES | c.550C>T (p.Leu184Phe) c.495+55C>T (n.495+55C>T) | dbSNP |
2 | g.219419013T>A | CA350687076 | DES | c.551T>A (p.Leu184His) c.495+56T>A (n.495+56T>A) | |
2 | g.219419013T>C | CA350687078 | DES | c.551T>C (p.Leu184Pro) c.495+56T>C (n.495+56T>C) | |
2 | g.219419013T>G | CA350687075 | DES | c.551T>G (p.Leu184Arg) c.495+56T>G (n.495+56T>G) | |
2 | g.219419014C>A | CA431284039 | DES | c.552C>A (p.Leu184=) c.495+57C>A (n.495+57C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419014C= | CA1329210153 | DES | c.552C= (p.Leu184=) c.495+57C= (n.495+57C=) | |
2 | g.219419014C>G | CA431284038 | DES | c.552C>G (p.Leu184=) c.495+57C>G (n.495+57C>G) | ClinVar dbSNP |
2 | g.219419014C>T | CA65981348 | DES | c.552C>T (p.Leu184=) c.495+57C>T (n.495+57C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219419015G>A | CA350687080 | DES | c.553G>A (p.Asp185Asn) c.495+58G>A (n.495+58G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.219419015G>C | CA350687082 | DES | c.553G>C (p.Asp185His) c.495+58G>C (n.495+58G>C) | gnomAD v4 |
2 | g.219419015G= | CA1329210154 | DES | c.553G= (p.Asp185=) c.495+58G= (n.495+58G=) | |
2 | g.219419015G>T | CA350687083 | DES | c.553G>T (p.Asp185Tyr) c.495+58G>T (n.495+58G>T) | gnomAD v4 |
2 | g.219419016A= | CA1329210155 | DES | c.554A= (p.Asp185=) c.495+59A= (n.495+59A=) | |
2 | g.219419016A>C | CA350687086 | DES | c.554A>C (p.Asp185Ala) c.495+59A>C (n.495+59A>C) | |
2 | g.219419016A>G | CA350687088 | DES | c.554A>G (p.Asp185Gly) c.495+59A>G (n.495+59A>G) | |
2 | g.219419016A>T | CA350687089 | DES | c.554A>T (p.Asp185Val) c.495+59A>T (n.495+59A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419017C>A | CA350687091 | DES | c.555C>A (p.Asp185Glu) c.495+60C>A (n.495+60C>A) | gnomAD v4 |
2 | g.219419017C>G | CA350687093 | DES | c.555C>G (p.Asp185Glu) c.495+60C>G (n.495+60C>G) | |
2 | g.219419017C>T | CA431284040 | DES | c.555C>T (p.Asp185=) c.495+60C>T (n.495+60C>T) | gnomAD v4 |
2 | g.219419018G>A | CA350687095 | DES | c.556G>A (p.Asp186Asn) c.495+61G>A (n.495+61G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419018G>C | CA350687097 | DES | c.556G>C (p.Asp186His) c.495+61G>C (n.495+61G>C) | ClinVar |
2 | g.219419018G= | CA1329210156 | DES | c.556G= (p.Asp186=) c.495+61G= (n.495+61G=) | |
2 | g.219419018G>T | CA10581949 | DES | c.556G>T (p.Asp186Tyr) c.495+61G>T (n.495+61G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.219419019A= | CA1329210157 | DES | c.557A= (p.Asp186=) c.495+62A= (n.495+62A=) | |
2 | g.219419019A>C | CA350687100 | DES | c.557A>C (p.Asp186Ala) c.495+62A>C (n.495+62A>C) | |
2 | g.219419019A>G | CA350687102 | DES | c.557A>G (p.Asp186Gly) c.495+62A>G (n.495+62A>G) | gnomAD v4 |
2 | g.219419019A>T | CA350687104 | DES | c.557A>T (p.Asp186Val) c.495+62A>T (n.495+62A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419020C>A | CA350687106 | DES | c.558C>A (p.Asp186Glu) c.495+63C>A (n.495+63C>A) | gnomAD v4 |
2 | g.219419020C= | CA1329210158 | DES | c.558C= (p.Asp186=) c.495+63C= (n.495+63C=) | |
2 | g.219419020C>G | CA350687108 | DES | c.558C>G (p.Asp186Glu) c.495+63C>G (n.495+63C>G) | ClinVar dbSNP gnomAD v4 |
2 | g.219419020C>T | CA431284041 | DES | c.558C>T (p.Asp186=) c.495+63C>T (n.495+63C>T) | |
2 | g.219419021C>A | CA350687110 | DES | c.559C>A (p.Leu187Met) c.495+64C>A (n.495+64C>A) | gnomAD v4 |
2 | g.219419021C= | CA1329210159 | DES | c.559C= (p.Leu187=) c.495+64C= (n.495+64C=) | |
2 | g.219419021C>G | CA350687113 | DES | c.559C>G (p.Leu187Val) c.495+64C>G (n.495+64C>G) | gnomAD v4 |
2 | g.219419021C>T | CA431284042 | DES | c.559C>T (p.Leu187=) c.495+64C>T (n.495+64C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419022T>A | CA350687118 | DES | c.560T>A (p.Leu187Gln) c.495+65T>A (n.495+65T>A) | gnomAD v4 |
2 | g.219419022T>C | CA350687119 | DES | c.560T>C (p.Leu187Pro) c.495+65T>C (n.495+65T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.219419022T>G | CA350687122 | DES | c.560T>G (p.Leu187Arg) c.495+65T>G (n.495+65T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419022T= | CA1329210160 | DES | c.560T= (p.Leu187=) c.495+65T= (n.495+65T=) | |
2 | g.219419023G>A | CA431284043 | DES | c.561G>A (p.Leu187=) c.495+66G>A (n.495+66G>A) | gnomAD v4 |
2 | g.219419023G>C | CA431284044 | DES | c.561G>C (p.Leu187=) c.495+66G>C (n.495+66G>C) | |
2 | g.219419023G>T | CA431284045 | DES | c.561G>T (p.Leu187=) c.495+66G>T (n.495+66G>T) | gnomAD v4 |
2 | g.219419024C>A | CA350687125 | DES | c.562C>A (p.Gln188Lys) c.495+67C>A (n.495+67C>A) | gnomAD v4 |
2 | g.219419024C>G | CA350687127 | DES | c.562C>G (p.Gln188Glu) c.495+67C>G (n.495+67C>G) | |
2 | g.219419024C>T | CA350687129 | DES | c.562C>T (p.Gln188Ter) c.495+67C>T (n.495+67C>T) | gnomAD v4 |
2 | g.219419025A>C | CA350687133 | DES | c.563A>C (p.Gln188Pro) c.495+68A>C (n.495+68A>C) | |
2 | g.219419025A>G | CA350687136 | DES | c.563A>G (p.Gln188Arg) c.495+68A>G (n.495+68A>G) | ClinVar gnomAD v4 |
2 | g.219419025A>T | CA350687139 | DES | c.563A>T (p.Gln188Leu) c.495+68A>T (n.495+68A>T) | gnomAD v4 |
2 | g.219419026G>A | CA431284046 | DES | c.564G>A (p.Gln188=) c.495+69G>A (n.495+69G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419026G>C | CA350687143 | DES | c.564G>C (p.Gln188His) c.495+69G>C (n.495+69G>C) | |
2 | g.219419026G= | CA1329210161 | DES | c.564G= (p.Gln188=) c.495+69G= (n.495+69G=) | |
2 | g.219419026G>T | CA350687146 | DES | c.564G>T (p.Gln188His) c.495+69G>T (n.495+69G>T) | ClinVar |
2 | g.219419027C>A | CA431284047 | DES | c.565C>A (p.Arg189=) c.495+70C>A (n.495+70C>A) | gnomAD v4 |
2 | g.219419027C= | CA1329210162 | DES | c.565C= (p.Arg189=) c.495+70C= (n.495+70C=) | |
2 | g.219419027C>G | CA350687148 | DES | c.565C>G (p.Arg189Gly) c.495+70C>G (n.495+70C>G) | |
2 | g.219419027C>T | CA350687147 | DES | c.565C>T (p.Arg189Trp) c.495+70C>T (n.495+70C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419028G>A | CA16617478 | DES | c.566G>A (p.Arg189Gln) c.495+71G>A (n.495+71G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419028G>C | CA350687150 | DES | c.566G>C (p.Arg189Pro) c.495+71G>C (n.495+71G>C) | |
2 | g.219419028G= | CA1329210163 | DES | c.566G= (p.Arg189=) c.495+71G= (n.495+71G=) | |
2 | g.219419028G>T | CA350687152 | DES | c.566G>T (p.Arg189Leu) c.495+71G>T (n.495+71G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419029G>A | CA431284048 | DES | c.567G>A (p.Arg189=) c.495+72G>A (n.495+72G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219419029G>C | CA10606822 | DES | c.567G>C (p.Arg189=) c.495+72G>C (n.495+72G>C) | ClinVar dbSNP |
2 | g.219419029G= | CA1329210164 | DES | c.567G= (p.Arg189=) c.495+72G= (n.495+72G=) | |
2 | g.219419029G>T | CA431284049 | DES | c.567G>T (p.Arg189=) c.495+72G>T (n.495+72G>T) | gnomAD v4 |
2 | g.219419030C>A | CA350687160 | DES | c.568C>A (p.Leu190Ile) c.495+73C>A (n.495+73C>A) | |
2 | g.219419030C= | CA1329210165 | DES | c.568C= (p.Leu190=) c.495+73C= (n.495+73C=) | |
2 | g.219419030C>G | CA350687162 | DES | c.568C>G (p.Leu190Val) c.495+73C>G (n.495+73C>G) | |
2 | g.219419030C>T | CA350687166 | DES | c.568C>T (p.Leu190Phe) c.495+73C>T (n.495+73C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419031T>A | CA350687170 | DES | c.569T>A (p.Leu190His) c.495+74T>A (n.495+74T>A) | gnomAD v4 |
2 | g.219419031T>C | CA350687172 | DES | c.569T>C (p.Leu190Pro) c.495+74T>C (n.495+74T>C) | dbSNP gnomAD v2 |
2 | g.219419031T>G | CA350687176 | DES | c.569T>G (p.Leu190Arg) c.495+74T>G (n.495+74T>G) | |
2 | g.219419031T= | CA1329210166 | DES | c.569T= (p.Leu190=) c.495+74T= (n.495+74T=) | |
2 | g.219419032C>A | CA431284052 | DES | c.570C>A (p.Leu190=) c.495+75C>A (n.495+75C>A) | |
2 | g.219419032C>G | CA431284051 | DES | c.570C>G (p.Leu190=) c.495+75C>G (n.495+75C>G) | ClinVar gnomAD v4 |
2 | g.219419032C>T | CA431284050 | DES | c.570C>T (p.Leu190=) c.495+75C>T (n.495+75C>T) | |
2 | g.219419033A= | CA1329210167 | DES | c.571A= (p.Lys191=) c.495+76A= (n.495+76A=) | |
2 | g.219419033A>C | CA350687180 | DES | c.571A>C (p.Lys191Gln) c.495+76A>C (n.495+76A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219419033A>G | CA350687182 | DES | c.571A>G (p.Lys191Glu) c.495+76A>G (n.495+76A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219419033A>T | CA350687186 | DES | c.571A>T (p.Lys191Ter) c.495+76A>T (n.495+76A>T) | |
2 | g.219419034A>C | CA350687196 | DES | c.572A>C (p.Lys191Thr) c.495+77A>C (n.495+77A>C) | |
2 | g.219419034A>G | CA350687193 | DES | c.572A>G (p.Lys191Arg) c.495+77A>G (n.495+77A>G) | |
2 | g.219419034A>T | CA350687190 | DES | c.572A>T (p.Lys191Met) c.495+77A>T (n.495+77A>T) | gnomAD v4 |
2 | g.219419035G>A | CA431284053 | DES | c.573G>A (p.Lys191=) c.495+78G>A (n.495+78G>A) | gnomAD v4 |
2 | g.219419035G>C | CA350687199 | DES | c.573G>C (p.Lys191Asn) c.495+78G>C (n.495+78G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219419035G= | CA1329210168 | DES | c.573G= (p.Lys191=) c.495+78G= (n.495+78G=) | |
2 | g.219419035G>T | CA350687204 | DES | c.573G>T (p.Lys191Asn) c.495+78G>T (n.495+78G>T) | |
2 | g.219419036G>A | CA350687209 | DES | c.574G>A (p.Ala192Thr) c.495+79G>A (n.495+79G>A) | gnomAD v4 |
2 | g.219419036G>C | CA350687215 | DES | c.574G>C (p.Ala192Pro) c.495+79G>C (n.495+79G>C) | gnomAD v4 |
2 | g.219419036G>T | CA350687212 | DES | c.574G>T (p.Ala192Ser) c.495+79G>T (n.495+79G>T) | gnomAD v4 |
2 | g.219419037C>A | CA350687219 | DES | c.575C>A (p.Ala192Asp) c.495+80C>A (n.495+80C>A) | gnomAD v4 |
2 | g.219419037C= | CA1329210169 | DES | c.575C= (p.Ala192=) c.495+80C= (n.495+80C=) | |
2 | g.219419037C>G | CA350687225 | DES | c.575C>G (p.Ala192Gly) c.495+80C>G (n.495+80C>G) | |
2 | g.219419037C>T | CA65981381 | DES | c.575C>T (p.Ala192Val) c.495+80C>T (n.495+80C>T) | ClinVar dbSNP |
2 | g.219419038C>A | CA431284054 | DES | c.576C>A (p.Ala192=) c.495+81C>A (n.495+81C>A) | gnomAD v4 |
2 | g.219419038C>G | CA431284055 | DES | c.576C>G (p.Ala192=) c.495+81C>G (n.495+81C>G) | |
2 | g.219419038C>T | CA431284056 | DES | c.576C>T (p.Ala192=) c.495+81C>T (n.495+81C>T) | |
2 | g.219419039A>C | CA350687229 | DES | c.577A>C (p.Lys193Gln) c.495+82A>C (n.495+82A>C) | |
2 | g.219419039A>G | CA350687235 | DES | c.577A>G (p.Lys193Glu) c.495+82A>G (n.495+82A>G) | |
2 | g.219419039A>T | CA350687231 | DES | c.577A>T (p.Lys193Ter) c.495+82A>T (n.495+82A>T) | |
2 | g.219419040A>C | CA350687239 | DES | c.578A>C (p.Lys193Thr) c.495+83A>C (n.495+83A>C) | |
2 | g.219419040A>G | CA350687244 | DES | c.578A>G (p.Lys193Arg) c.495+83A>G (n.495+83A>G) | |
2 | g.219419040A>T | CA350687245 | DES | c.578A>T (p.Lys193Met) c.495+83A>T (n.495+83A>T) | |
2 | g.219419041G>A | CA350687248 | DES | c.578+1G>A (n.578+1G>A) c.495+84G>A (n.495+84G>A) | gnomAD v4 |
2 | g.219419041G>C | CA350687251 | DES | c.578+1G>C (n.578+1G>C) c.495+84G>C (n.495+84G>C) | |
2 | g.219419041G>T | CA350687255 | DES | c.578+1G>T (n.578+1G>T) c.495+84G>T (n.495+84G>T) | |
2 | g.219419041_219419042insC | CA2663247693 | DES | c.578+1_578+2insC (n.578+1_578+2insC) c.495+84_495+85insC (n.495+84_495+85insC) | gnomAD v4 |
2 | g.219419041_219419042insCTGCAGGAGGAGATTCAGT | CA2663247696 | DES | c.578+1_578+2insCTGCAGGAGGAGATTCAGT (n.578+1_578+2insCTGCAGGAGGAGATTCAGT) c.495+84_495+85insCTGCAGGAGGAGATTCAGT (n.495+84_495+85insCTGCAGGAGGAGATTCAGT) | gnomAD v4 |
2 | g.219419042T>A | CA350687258 | DES | c.578+2T>A (n.578+2T>A) c.495+85T>A (n.495+85T>A) | |
2 | g.219419042T>C | CA350687260 | DES | c.578+2T>C (n.578+2T>C) c.495+85T>C (n.495+85T>C) | |
2 | g.219419042T>G | CA350687263 | DES | c.578+2T>G (n.578+2T>G) c.495+85T>G (n.495+85T>G) | |
2 | g.219419043G>T | CA2580065798 | DES | c.578+3G>T (n.578+3G>T) c.495+86G>T (n.495+86G>T) | ClinVar gnomAD v4 |
2 | g.219419043_219419044insCAGG | CA2663247705 | DES | c.578+3_578+4insCAGG (n.578+3_578+4insCAGG) c.495+86_495+87insCAGG (n.495+86_495+87insCAGG) | gnomAD v4 |
2 | g.219419043_219419044insCAGGAGGAGATTCAGTTGAAGGAAGAAGCAG | CA2663247702 | DES | c.578+3_578+4insCAGGAGGAGATTCAGTTGAAGGAAGAAGCAG (n.578+3_578+4insCAGGAGGAGATTCAGTTGAAGGAAGAAGCAG) c.495+86_495+87insCAGGAGGAGATTCAGTTGAAGGAAGAAGCAG (n.495+86_495+87insCAGGAGGAGATTCAGTTGAAGGAAGAAGCAG) | gnomAD v4 |
2 | g.219419045G>A | CA2663247708 | DES | c.578+5G>A (n.578+5G>A) c.495+88G>A (n.495+88G>A) | gnomAD v4 |
2 | g.219419045G>C | CA2586971379 | DES | c.578+5G>C (n.578+5G>C) c.495+88G>C (n.495+88G>C) | gnomAD v4 |
2 | g.219419046_219419047del | CA2663247707 | DES | c.578+6_578+7del (n.578+6_578+7del) c.495+89_495+90del (n.495+89_495+90del) | gnomAD v4 |
2 | g.219419046G>A | CA2663247709 | DES | c.578+6G>A (n.578+6G>A) c.495+89G>A (n.495+89G>A) | gnomAD v4 |
2 | g.219419047G>A | CA2663247711 | DES | c.578+7G>A (n.578+7G>A) c.495+90G>A (n.495+90G>A) | gnomAD v4 |
2 | g.219419047G>T | CA2663247712 | DES | c.578+7G>T (n.578+7G>T) c.495+90G>T (n.495+90G>T) | gnomAD v4 |
2 | g.219419048C>A | CA2663247714 | DES | c.578+8C>A (n.578+8C>A) c.495+91C>A (n.495+91C>A) | gnomAD v4 |
2 | g.219419048C>T | CA2663247715 | DES | c.578+8C>T (n.578+8C>T) c.495+91C>T (n.495+91C>T) | gnomAD v4 |
2 | g.219419049C>A | CA2663247716 | DES | c.578+9C>A (n.578+9C>A) c.495+92C>A (n.495+92C>A) | gnomAD v4 |
2 | g.219419049C>T | CA2663247717 | DES | c.578+9C>T (n.578+9C>T) c.495+92C>T (n.495+92C>T) | gnomAD v4 |
2 | g.219419050C>A | CA1042520882 | DES | c.578+10C>A (n.578+10C>A) c.495+93C>A (n.495+93C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219419050C= | CA1329210170 | DES | c.578+10C= (n.578+10C=) c.495+93C= (n.495+93C=) | |
2 | g.219419050C>G | CA2663247721 | DES | c.578+10C>G (n.578+10C>G) c.495+93C>G (n.495+93C>G) | gnomAD v4 |
2 | g.219419050C>T | CA65981385 | DES | c.578+10C>T (n.578+10C>T) c.495+93C>T (n.495+93C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219419051G>A | CA133856 | DES | c.578+11G>A (n.578+11G>A) c.495+94G>A (n.495+94G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219419051G>C | CA2581791964 | DES | c.578+11G>C (n.578+11G>C) c.495+94G>C (n.495+94G>C) | |
2 | g.219419051G= | CA1329210171 | DES | c.578+11G= (n.578+11G=) c.495+94G= (n.495+94G=) | |
2 | g.219419051G>T | CA2581791965 | DES | c.578+11G>T (n.578+11G>T) c.495+94G>T (n.495+94G>T) | gnomAD v4 |
2 | g.219419052G>A | CA764964783 | DES | c.578+12G>A (n.578+12G>A) c.495+95G>A (n.495+95G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219419052G= | CA1329210172 | DES | c.578+12G= (n.578+12G=) c.495+95G= (n.495+95G=) | |
2 | g.219419052G>T | CA2843661248 | DES | c.578+12G>T (n.578+12G>T) c.495+95G>T (n.495+95G>T) | |
2 | g.219419053C>A | CA2663247735 | DES | c.578+13C>A (n.578+13C>A) c.495+96C>A (n.495+96C>A) | gnomAD v4 |
2 | g.219419054A>C | CA2663247736 | DES | c.578+14A>C (n.578+14A>C) c.495+97A>C (n.495+97A>C) | gnomAD v4 |
2 | g.219419054A>G | CA2577252534 | DES | c.578+14A>G (n.578+14A>G) c.495+97A>G (n.495+97A>G) | |
2 | g.219419055C>A | CA2663247739 | DES | c.578+15C>A (n.578+15C>A) c.495+98C>A (n.495+98C>A) | gnomAD v4 |
2 | g.219419055C>T | CA2663247740 | DES | c.578+15C>T (n.578+15C>T) c.495+98C>T (n.495+98C>T) | gnomAD v4 |
2 | g.219419056C>A | CA2663247741 | DES | c.578+16C>A (n.578+16C>A) c.495+99C>A (n.495+99C>A) | gnomAD v4 |
2 | g.219419056C>G | CA2663247742 | DES | c.578+16C>G (n.578+16C>G) c.495+99C>G (n.495+99C>G) | gnomAD v4 |
2 | g.219419057C>A | CA2663247743 | DES | c.578+17C>A (n.578+17C>A) c.495+100C>A (n.495+100C>A) | gnomAD v4 |
2 | g.219419057C>T | CA2663247744 | DES | c.578+17C>T (n.578+17C>T) c.495+100C>T (n.495+100C>T) | gnomAD v4 |