Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21705479T>A | CA366938092 | DNAH11 | c.6488T>A (p.Leu2163Gln) c.6509T>A (p.Leu2170Gln) | |
7 | g.21705479T>C | CA366938091 | DNAH11 | c.6488T>C (p.Leu2163Pro) c.6509T>C (p.Leu2170Pro) | gnomAD v4 |
7 | g.21705479T>G | CA366938089 | DNAH11 | c.6488T>G (p.Leu2163Arg) c.6509T>G (p.Leu2170Arg) | |
7 | g.21705480G>A | CA155077500 | DNAH11 | c.6489G>A (p.Leu2163=) c.6510G>A (p.Leu2170=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21705480G>C | CA4180842 | DNAH11 | c.6489G>C (p.Leu2163=) c.6510G>C (p.Leu2170=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705480G= | CA1693626524 | DNAH11 | c.6489G= (p.Leu2163=) c.6510G= (p.Leu2170=) | |
7 | g.21705480G>T | CA453964911 | DNAH11 | c.6489G>T (p.Leu2163=) c.6510G>T (p.Leu2170=) | |
7 | g.21705481T>A | CA366938093 | DNAH11 | c.6490T>A (p.Leu2164Met) c.6511T>A (p.Leu2171Met) | |
7 | g.21705481T>C | CA453964912 | DNAH11 | c.6490T>C (p.Leu2164=) c.6511T>C (p.Leu2171=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21705481T>G | CA366938094 | DNAH11 | c.6490T>G (p.Leu2164Val) c.6511T>G (p.Leu2171Val) | |
7 | g.21705481T= | CA1693626531 | DNAH11 | c.6490T= (p.Leu2164=) c.6511T= (p.Leu2171=) | |
7 | g.21705482T>A | CA366938097 | DNAH11 | c.6491T>A (p.Leu2164Ter) c.6512T>A (p.Leu2171Ter) | |
7 | g.21705482T>C | CA366938099 | DNAH11 | c.6491T>C (p.Leu2164Ser) c.6512T>C (p.Leu2171Ser) | dbSNP gnomAD v4 |
7 | g.21705482T>G | CA366938101 | DNAH11 | c.6491T>G (p.Leu2164Trp) c.6512T>G (p.Leu2171Trp) | |
7 | g.21705482T= | CA1693626534 | DNAH11 | c.6491T= (p.Leu2164=) c.6512T= (p.Leu2171=) | |
7 | g.21705483G>A | CA453964913 | DNAH11 | c.6492G>A (p.Leu2164=) c.6513G>A (p.Leu2171=) | |
7 | g.21705483G>C | CA4180843 | DNAH11 | c.6492G>C (p.Leu2164Phe) c.6513G>C (p.Leu2171Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705483G= | CA1693626535 | DNAH11 | c.6492G= (p.Leu2164=) c.6513G= (p.Leu2171=) | |
7 | g.21705483G>T | CA366938104 | DNAH11 | c.6492G>T (p.Leu2164Phe) c.6513G>T (p.Leu2171Phe) | |
7 | g.21705484G>A | CA366938106 | DNAH11 | c.6493G>A (p.Ala2165Thr) c.6514G>A (p.Ala2172Thr) | dbSNP |
7 | g.21705484G>C | CA366938108 | DNAH11 | c.6493G>C (p.Ala2165Pro) c.6514G>C (p.Ala2172Pro) | |
7 | g.21705484G= | CA1693626536 | DNAH11 | c.6493G= (p.Ala2165=) c.6514G= (p.Ala2172=) | |
7 | g.21705484G>T | CA366938110 | DNAH11 | c.6493G>T (p.Ala2165Ser) c.6514G>T (p.Ala2172Ser) | |
7 | g.21705485C>A | CA366938115 | DNAH11 | c.6494C>A (p.Ala2165Asp) c.6515C>A (p.Ala2172Asp) | |
7 | g.21705485C= | CA1693626539 | DNAH11 | c.6494C= (p.Ala2165=) c.6515C= (p.Ala2172=) | |
7 | g.21705485C>G | CA4180844 | DNAH11 | c.6494C>G (p.Ala2165Gly) c.6515C>G (p.Ala2172Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705485C>T | CA366938113 | DNAH11 | c.6494C>T (p.Ala2165Val) c.6515C>T (p.Ala2172Val) | |
7 | g.21705486T>A | CA453964914 | DNAH11 | c.6495T>A (p.Ala2165=) c.6516T>A (p.Ala2172=) | |
7 | g.21705486T>C | CA453964915 | DNAH11 | c.6495T>C (p.Ala2165=) c.6516T>C (p.Ala2172=) | |
7 | g.21705486T>G | CA453964916 | DNAH11 | c.6495T>G (p.Ala2165=) c.6516T>G (p.Ala2172=) | |
7 | g.21705487G>A | CA366938116 | DNAH11 | c.6496G>A (p.Val2166Met) c.6517G>A (p.Val2173Met) | dbSNP gnomAD v4 |
7 | g.21705487G>C | CA155077508 | DNAH11 | c.6496G>C (p.Val2166Leu) c.6517G>C (p.Val2173Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705487G= | CA1693626541 | DNAH11 | c.6496G= (p.Val2166=) c.6517G= (p.Val2173=) | |
7 | g.21705487G>T | CA366938119 | DNAH11 | c.6496G>T (p.Val2166Leu) c.6517G>T (p.Val2173Leu) | gnomAD v4 |
7 | g.21705488T>A | CA366938120 | DNAH11 | c.6497T>A (p.Val2166Glu) c.6518T>A (p.Val2173Glu) | |
7 | g.21705488T>C | CA366938122 | DNAH11 | c.6497T>C (p.Val2166Ala) c.6518T>C (p.Val2173Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21705488T>G | CA366938123 | DNAH11 | c.6497T>G (p.Val2166Gly) c.6518T>G (p.Val2173Gly) | |
7 | g.21705488T= | CA1693626545 | DNAH11 | c.6497T= (p.Val2166=) c.6518T= (p.Val2173=) | |
7 | g.21705489G>A | CA453964917 | DNAH11 | c.6498G>A (p.Val2166=) c.6519G>A (p.Val2173=) | gnomAD v4 |
7 | g.21705489G>C | CA453964918 | DNAH11 | c.6498G>C (p.Val2166=) c.6519G>C (p.Val2173=) | |
7 | g.21705489G>T | CA453964919 | DNAH11 | c.6498G>T (p.Val2166=) c.6519G>T (p.Val2173=) | gnomAD v4 |
7 | g.21705490C>A | CA453964920 | DNAH11 | c.6499C>A (p.Arg2167=) c.6520C>A (p.Arg2174=) | gnomAD v4 |
7 | g.21705490C= | CA1693626552 | DNAH11 | c.6499C= (p.Arg2167=) c.6520C= (p.Arg2174=) | |
7 | g.21705490C>G | CA366938125 | DNAH11 | c.6499C>G (p.Arg2167Gly) c.6520C>G (p.Arg2174Gly) | |
7 | g.21705490C>T | CA4180845 | DNAH11 | c.6499C>T (p.Arg2167Trp) c.6520C>T (p.Arg2174Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705491G>A | CA4180846 | DNAH11 | c.6500G>A (p.Arg2167Gln) c.6521G>A (p.Arg2174Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21705491G>C | CA366938129 | DNAH11 | c.6500G>C (p.Arg2167Pro) c.6521G>C (p.Arg2174Pro) | |
7 | g.21705491G= | CA1693626560 | DNAH11 | c.6500G= (p.Arg2167=) c.6521G= (p.Arg2174=) | |
7 | g.21705491G>T | CA366938132 | DNAH11 | c.6500G>T (p.Arg2167Leu) c.6521G>T (p.Arg2174Leu) | COSMIC COSMIC |
7 | g.21705492G>A | CA453964923 | DNAH11 | c.6501G>A (p.Arg2167=) c.6522G>A (p.Arg2174=) | gnomAD v4 |
7 | g.21705492G>C | CA453964922 | DNAH11 | c.6501G>C (p.Arg2167=) c.6522G>C (p.Arg2174=) | |
7 | g.21705492G>T | CA453964921 | DNAH11 | c.6501G>T (p.Arg2167=) c.6522G>T (p.Arg2174=) | |
7 | g.21705493C>A | CA366938139 | DNAH11 | c.6502C>A (p.His2168Asn) c.6523C>A (p.His2175Asn) | |
7 | g.21705493C= | CA1693626566 | DNAH11 | c.6502C= (p.His2168=) c.6523C= (p.His2175=) | |
7 | g.21705493C>G | CA366938137 | DNAH11 | c.6502C>G (p.His2168Asp) c.6523C>G (p.His2175Asp) | |
7 | g.21705493C>T | CA366938135 | DNAH11 | c.6502C>T (p.His2168Tyr) c.6523C>T (p.His2175Tyr) | dbSNP |
7 | g.21705494A= | CA1693626572 | DNAH11 | c.6503A= (p.His2168=) c.6524A= (p.His2175=) | |
7 | g.21705494A>C | CA4180847 | DNAH11 | c.6503A>C (p.His2168Pro) c.6524A>C (p.His2175Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705494A>G | CA366938141 | DNAH11 | c.6503A>G (p.His2168Arg) c.6524A>G (p.His2175Arg) | gnomAD v4 |
7 | g.21705494A>T | CA366938142 | DNAH11 | c.6503A>T (p.His2168Leu) c.6524A>T (p.His2175Leu) | gnomAD v4 |
7 | g.21705495C>A | CA366938143 | DNAH11 | c.6504C>A (p.His2168Gln) c.6525C>A (p.His2175Gln) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21705495C= | CA1693626575 | DNAH11 | c.6504C= (p.His2168=) c.6525C= (p.His2175=) | |
7 | g.21705495C>G | CA366938144 | DNAH11 | c.6504C>G (p.His2168Gln) c.6525C>G (p.His2175Gln) | |
7 | g.21705495C>T | CA4180848 | DNAH11 | c.6504C>T (p.His2168=) c.6525C>T (p.His2175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705496T>A | CA366938146 | DNAH11 | c.6505T>A (p.Ser2169Thr) c.6526T>A (p.Ser2176Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705496T>C | CA366938148 | DNAH11 | c.6505T>C (p.Ser2169Pro) c.6526T>C (p.Ser2176Pro) | |
7 | g.21705496T>G | CA366938156 | DNAH11 | c.6505T>G (p.Ser2169Ala) c.6526T>G (p.Ser2176Ala) | |
7 | g.21705496T= | CA1693626580 | DNAH11 | c.6505T= (p.Ser2169=) c.6526T= (p.Ser2176=) | |
7 | g.21705497C>A | CA260573 | DNAH11 | c.6506C>A (p.Ser2169Ter) c.6527C>A (p.Ser2176Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.21705497C= | CA1693626595 | DNAH11 | c.6506C= (p.Ser2169=) c.6527C= (p.Ser2176=) | |
7 | g.21705497C>G | CA366938158 | DNAH11 | c.6506C>G (p.Ser2169Trp) c.6527C>G (p.Ser2176Trp) | |
7 | g.21705497C>T | CA4180849 | DNAH11 | c.6506C>T (p.Ser2169Leu) c.6527C>T (p.Ser2176Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705498G>A | CA4180850 | DNAH11 | c.6507G>A (p.Ser2169=) c.6528G>A (p.Ser2176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705498G>C | CA453964925 | DNAH11 | c.6507G>C (p.Ser2169=) c.6528G>C (p.Ser2176=) | gnomAD v4 |
7 | g.21705498G= | CA1693626599 | DNAH11 | c.6507G= (p.Ser2169=) c.6528G= (p.Ser2176=) | |
7 | g.21705498G>T | CA453964924 | DNAH11 | c.6507G>T (p.Ser2169=) c.6528G>T (p.Ser2176=) | |
7 | g.21705499G>A | CA366938164 | DNAH11 | c.6508G>A (p.Val2170Ile) c.6529G>A (p.Val2177Ile) | |
7 | g.21705499G>C | CA366938167 | DNAH11 | c.6508G>C (p.Val2170Leu) c.6529G>C (p.Val2177Leu) | |
7 | g.21705499G>T | CA366938162 | DNAH11 | c.6508G>T (p.Val2170Phe) c.6529G>T (p.Val2177Phe) | gnomAD v4 |
7 | g.21705500T>A | CA366938172 | DNAH11 | c.6509T>A (p.Val2170Asp) c.6530T>A (p.Val2177Asp) | |
7 | g.21705500T>C | CA366938169 | DNAH11 | c.6509T>C (p.Val2170Ala) c.6530T>C (p.Val2177Ala) | |
7 | g.21705500T>G | CA366938170 | DNAH11 | c.6509T>G (p.Val2170Gly) c.6530T>G (p.Val2177Gly) | |
7 | g.21705501C>A | CA453964926 | DNAH11 | c.6510C>A (p.Val2170=) c.6531C>A (p.Val2177=) | |
7 | g.21705501C>G | CA453964927 | DNAH11 | c.6510C>G (p.Val2170=) c.6531C>G (p.Val2177=) | |
7 | g.21705501C>T | CA453964928 | DNAH11 | c.6510C>T (p.Val2170=) c.6531C>T (p.Val2177=) | |
7 | g.21705502T>A | CA366938174 | DNAH11 | c.6511T>A (p.Phe2171Ile) c.6532T>A (p.Phe2178Ile) | |
7 | g.21705502T>C | CA366938175 | DNAH11 | c.6511T>C (p.Phe2171Leu) c.6532T>C (p.Phe2178Leu) | |
7 | g.21705502T>G | CA366938177 | DNAH11 | c.6511T>G (p.Phe2171Val) c.6532T>G (p.Phe2178Val) | |
7 | g.21705504dup | CA2681984309 | DNAH11 | c.6513dup (p.Val2172CysfsTer11) c.6534dup (p.Val2179CysfsTer11) | gnomAD v4 |
7 | g.21705503_21705504del | CA2681984308 | DNAH11 | c.6512_6513del (p.Phe2171CysfsTer11) c.6533_6534del (p.Phe2178CysfsTer11) | gnomAD v4 |
7 | g.21705503T>A | CA366938179 | DNAH11 | c.6512T>A (p.Phe2171Tyr) c.6533T>A (p.Phe2178Tyr) | |
7 | g.21705503T>C | CA366938180 | DNAH11 | c.6512T>C (p.Phe2171Ser) c.6533T>C (p.Phe2178Ser) | |
7 | g.21705503T>G | CA366938181 | DNAH11 | c.6512T>G (p.Phe2171Cys) c.6533T>G (p.Phe2178Cys) | |
7 | g.21705504T>A | CA366938182 | DNAH11 | c.6513T>A (p.Phe2171Leu) c.6534T>A (p.Phe2178Leu) | |
7 | g.21705504T>C | CA4180851 | DNAH11 | c.6513T>C (p.Phe2171=) c.6534T>C (p.Phe2178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705504T>G | CA366938184 | DNAH11 | c.6513T>G (p.Phe2171Leu) c.6534T>G (p.Phe2178Leu) | |
7 | g.21705504T= | CA1693626605 | DNAH11 | c.6513T= (p.Phe2171=) c.6534T= (p.Phe2178=) | |
7 | g.21705505G>A | CA366938187 | DNAH11 | c.6514G>A (p.Val2172Ile) c.6535G>A (p.Val2179Ile) | gnomAD v4 |
7 | g.21705505G>C | CA16612170 | DNAH11 | c.6514G>C (p.Val2172Leu) c.6535G>C (p.Val2179Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705505G= | CA1693626613 | DNAH11 | c.6514G= (p.Val2172=) c.6535G= (p.Val2179=) | |
7 | g.21705505G>T | CA366938185 | DNAH11 | c.6514G>T (p.Val2172Leu) c.6535G>T (p.Val2179Leu) | |
7 | g.21705506T>A | CA366938189 | DNAH11 | c.6515T>A (p.Val2172Glu) c.6536T>A (p.Val2179Glu) | |
7 | g.21705506T>C | CA366938191 | DNAH11 | c.6515T>C (p.Val2172Ala) c.6536T>C (p.Val2179Ala) | COSMIC |
7 | g.21705506T>G | CA366938192 | DNAH11 | c.6515T>G (p.Val2172Gly) c.6536T>G (p.Val2179Gly) | |
7 | g.21705507A= | CA1693626619 | DNAH11 | c.6516A= (p.Val2172=) c.6537A= (p.Val2179=) | |
7 | g.21705507A>C | CA453964930 | DNAH11 | c.6516A>C (p.Val2172=) c.6537A>C (p.Val2179=) | |
7 | g.21705507A>G | CA4180852 | DNAH11 | c.6516A>G (p.Val2172=) c.6537A>G (p.Val2179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705507A>T | CA453964929 | DNAH11 | c.6516A>T (p.Val2172=) c.6537A>T (p.Val2179=) | |
7 | g.21705508G>A | CA366938193 | DNAH11 | c.6517G>A (p.Val2173Ile) c.6538G>A (p.Val2180Ile) | |
7 | g.21705508G>C | CA366938194 | DNAH11 | c.6517G>C (p.Val2173Leu) c.6538G>C (p.Val2180Leu) | |
7 | g.21705508G= | CA1693626624 | DNAH11 | c.6517G= (p.Val2173=) c.6538G= (p.Val2180=) | |
7 | g.21705508G>T | CA4180853 | DNAH11 | c.6517G>T (p.Val2173Phe) c.6538G>T (p.Val2180Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705509T>A | CA366938196 | DNAH11 | c.6518T>A (p.Val2173Asp) c.6539T>A (p.Val2180Asp) | |
7 | g.21705509T>C | CA366938198 | DNAH11 | c.6518T>C (p.Val2173Ala) c.6539T>C (p.Val2180Ala) | ClinVar gnomAD v4 |
7 | g.21705509T>G | CA366938200 | DNAH11 | c.6518T>G (p.Val2173Gly) c.6539T>G (p.Val2180Gly) | |
7 | g.21705510T>A | CA453964931 | DNAH11 | c.6519T>A (p.Val2173=) c.6540T>A (p.Val2180=) | |
7 | g.21705510T>C | CA453964932 | DNAH11 | c.6519T>C (p.Val2173=) c.6540T>C (p.Val2180=) | |
7 | g.21705510T>G | CA453964933 | DNAH11 | c.6519T>G (p.Val2173=) c.6540T>G (p.Val2180=) | |
7 | g.21705511G>A | CA366938202 | DNAH11 | c.6520G>A (p.Gly2174Arg) c.6541G>A (p.Gly2181Arg) | COSMIC COSMIC |
7 | g.21705511G>C | CA366938204 | DNAH11 | c.6520G>C (p.Gly2174Arg) c.6541G>C (p.Gly2181Arg) | |
7 | g.21705511G>T | CA366938205 | DNAH11 | c.6520G>T (p.Gly2174Ter) c.6541G>T (p.Gly2181Ter) | |
7 | g.21705512G>A | CA366938210 | DNAH11 | c.6521G>A (p.Gly2174Glu) c.6542G>A (p.Gly2181Glu) | gnomAD v4 |
7 | g.21705512G>C | CA366938212 | DNAH11 | c.6521G>C (p.Gly2174Ala) c.6542G>C (p.Gly2181Ala) | |
7 | g.21705512G>T | CA366938208 | DNAH11 | c.6521G>T (p.Gly2174Val) c.6542G>T (p.Gly2181Val) | |
7 | g.21705513A>C | CA453964934 | DNAH11 | c.6522A>C (p.Gly2174=) c.6543A>C (p.Gly2181=) | |
7 | g.21705513A>G | CA453964935 | DNAH11 | c.6522A>G (p.Gly2174=) c.6543A>G (p.Gly2181=) | |
7 | g.21705513A>T | CA453964936 | DNAH11 | c.6522A>T (p.Gly2174=) c.6543A>T (p.Gly2181=) | |
7 | g.21705514A>C | CA366938214 | DNAH11 | c.6523A>C (p.Asn2175His) c.6544A>C (p.Asn2182His) | |
7 | g.21705514A>G | CA366938216 | DNAH11 | c.6523A>G (p.Asn2175Asp) c.6544A>G (p.Asn2182Asp) | |
7 | g.21705514A>T | CA366938218 | DNAH11 | c.6523A>T (p.Asn2175Tyr) c.6544A>T (p.Asn2182Tyr) | |
7 | g.21705515A>C | CA366938220 | DNAH11 | c.6524A>C (p.Asn2175Thr) c.6545A>C (p.Asn2182Thr) | |
7 | g.21705515A>G | CA366938222 | DNAH11 | c.6524A>G (p.Asn2175Ser) c.6545A>G (p.Asn2182Ser) | |
7 | g.21705515A>T | CA366938224 | DNAH11 | c.6524A>T (p.Asn2175Ile) c.6545A>T (p.Asn2182Ile) | |
7 | g.21705516T>A | CA4180854 | DNAH11 | c.6525T>A (p.Asn2175Lys) c.6546T>A (p.Asn2182Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705516T>C | CA453964937 | DNAH11 | c.6525T>C (p.Asn2175=) c.6546T>C (p.Asn2182=) | dbSNP |
7 | g.21705516T>G | CA366938226 | DNAH11 | c.6525T>G (p.Asn2175Lys) c.6546T>G (p.Asn2182Lys) | |
7 | g.21705516T= | CA1693626631 | DNAH11 | c.6525T= (p.Asn2175=) c.6546T= (p.Asn2182=) | |
7 | g.21705517G>A | CA366938229 | DNAH11 | c.6526G>A (p.Ala2176Thr) c.6547G>A (p.Ala2183Thr) | |
7 | g.21705517G>C | CA366938231 | DNAH11 | c.6526G>C (p.Ala2176Pro) c.6547G>C (p.Ala2183Pro) | |
7 | g.21705517G= | CA1693626637 | DNAH11 | c.6526G= (p.Ala2176=) c.6547G= (p.Ala2183=) | |
7 | g.21705517G>T | CA366938233 | DNAH11 | c.6526G>T (p.Ala2176Ser) c.6547G>T (p.Ala2183Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21705518C>A | CA366938235 | DNAH11 | c.6527C>A (p.Ala2176Glu) c.6548C>A (p.Ala2183Glu) | |
7 | g.21705518C= | CA1693626640 | DNAH11 | c.6527C= (p.Ala2176=) c.6548C= (p.Ala2183=) | |
7 | g.21705518C>G | CA366938238 | DNAH11 | c.6527C>G (p.Ala2176Gly) c.6548C>G (p.Ala2183Gly) | gnomAD v4 |
7 | g.21705518C>T | CA4180855 | DNAH11 | c.6527C>T (p.Ala2176Val) c.6548C>T (p.Ala2183Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705519A= | CA1693626649 | DNAH11 | c.6528A= (p.Ala2176=) c.6549A= (p.Ala2183=) | |
7 | g.21705519A>C | CA453964938 | DNAH11 | c.6528A>C (p.Ala2176=) c.6549A>C (p.Ala2183=) | |
7 | g.21705519A>G | CA453964939 | DNAH11 | c.6528A>G (p.Ala2176=) c.6549A>G (p.Ala2183=) | dbSNP |
7 | g.21705519A>T | CA453964940 | DNAH11 | c.6528A>T (p.Ala2176=) c.6549A>T (p.Ala2183=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21705520G>A | CA366938241 | DNAH11 | c.6529G>A (p.Gly2177Ser) c.6550G>A (p.Gly2184Ser) | |
7 | g.21705520G>C | CA366938244 | DNAH11 | c.6529G>C (p.Gly2177Arg) c.6550G>C (p.Gly2184Arg) | |
7 | g.21705520G>T | CA366938243 | DNAH11 | c.6529G>T (p.Gly2177Cys) c.6550G>T (p.Gly2184Cys) | |
7 | g.21705521G>A | CA366938250 | DNAH11 | c.6530G>A (p.Gly2177Asp) c.6551G>A (p.Gly2184Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21705521G>C | CA366938252 | DNAH11 | c.6530G>C (p.Gly2177Ala) c.6551G>C (p.Gly2184Ala) | gnomAD v4 |
7 | g.21705521G= | CA1693626653 | DNAH11 | c.6530G= (p.Gly2177=) c.6551G= (p.Gly2184=) | |
7 | g.21705521G>T | CA366938253 | DNAH11 | c.6530G>T (p.Gly2177Val) c.6551G>T (p.Gly2184Val) | |
7 | g.21705522C>A | CA453964941 | DNAH11 | c.6531C>A (p.Gly2177=) c.6552C>A (p.Gly2184=) | |
7 | g.21705522C= | CA1693626661 | DNAH11 | c.6531C= (p.Gly2177=) c.6552C= (p.Gly2184=) | |
7 | g.21705522C>G | CA453964942 | DNAH11 | c.6531C>G (p.Gly2177=) c.6552C>G (p.Gly2184=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21705522C>T | CA453964943 | DNAH11 | c.6531C>T (p.Gly2177=) c.6552C>T (p.Gly2184=) | |
7 | g.21705523A>C | CA366938256 | DNAH11 | c.6532A>C (p.Thr2178Pro) c.6553A>C (p.Thr2185Pro) | |
7 | g.21705523A>G | CA366938259 | DNAH11 | c.6532A>G (p.Thr2178Ala) c.6553A>G (p.Thr2185Ala) | |
7 | g.21705523A>T | CA366938261 | DNAH11 | c.6532A>T (p.Thr2178Ser) c.6553A>T (p.Thr2185Ser) | |
7 | g.21705524C>A | CA366938263 | DNAH11 | c.6533C>A (p.Thr2178Lys) c.6554C>A (p.Thr2185Lys) | |
7 | g.21705524C>G | CA366938265 | DNAH11 | c.6533C>G (p.Thr2178Arg) c.6554C>G (p.Thr2185Arg) | |
7 | g.21705524C>T | CA366938267 | DNAH11 | c.6533C>T (p.Thr2178Ile) c.6554C>T (p.Thr2185Ile) | |
7 | g.21705524_21705525delinsCA | CA1693626662 | DNAH11 | c.6533_6534delinsCA (p.Thr2178=) c.6554_6555delinsCA (p.Thr2185=) | |
7 | g.21705525del | CA1693626663 | DNAH11 | c.6534del (p.Gly2179GlufsTer6) c.6555del (p.Gly2186GlufsTer6) | dbSNP |
7 | g.21705525A= | CA1693626665 | DNAH11 | c.6534A= (p.Thr2178=) c.6555A= (p.Thr2185=) | |
7 | g.21705525A>C | CA453964944 | DNAH11 | c.6534A>C (p.Thr2178=) c.6555A>C (p.Thr2185=) | ClinVar |
7 | g.21705525A>G | CA453964945 | DNAH11 | c.6534A>G (p.Thr2178=) c.6555A>G (p.Thr2185=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21705525A>T | CA453964946 | DNAH11 | c.6534A>T (p.Thr2178=) c.6555A>T (p.Thr2185=) | |
7 | g.21705526G>A | CA366938269 | DNAH11 | c.6535G>A (p.Gly2179Arg) c.6556G>A (p.Gly2186Arg) | dbSNP gnomAD v2 |
7 | g.21705526G>C | CA155077561 | DNAH11 | c.6535G>C (p.Gly2179Arg) c.6556G>C (p.Gly2186Arg) | dbSNP |
7 | g.21705526G= | CA1693626668 | DNAH11 | c.6535G= (p.Gly2179=) c.6556G= (p.Gly2186=) | |
7 | g.21705526G>T | CA366938272 | DNAH11 | c.6535G>T (p.Gly2179Ter) c.6556G>T (p.Gly2186Ter) | |
7 | g.21705527G>A | CA366938278 | DNAH11 | c.6536G>A (p.Gly2179Glu) c.6557G>A (p.Gly2186Glu) | |
7 | g.21705527G>C | CA366938277 | DNAH11 | c.6536G>C (p.Gly2179Ala) c.6557G>C (p.Gly2186Ala) | |
7 | g.21705527G>T | CA366938275 | DNAH11 | c.6536G>T (p.Gly2179Val) c.6557G>T (p.Gly2186Val) | gnomAD v4 |
7 | g.21705528A= | CA1693626671 | DNAH11 | c.6537A= (p.Gly2179=) c.6558A= (p.Gly2186=) | |
7 | g.21705528A>C | CA453964947 | DNAH11 | c.6537A>C (p.Gly2179=) c.6558A>C (p.Gly2186=) | dbSNP |
7 | g.21705528A>G | CA453964949 | DNAH11 | c.6537A>G (p.Gly2179=) c.6558A>G (p.Gly2186=) | dbSNP gnomAD v4 |
7 | g.21705528A>T | CA453964948 | DNAH11 | c.6537A>T (p.Gly2179=) c.6558A>T (p.Gly2186=) | |
7 | g.21705530dup | CA2681984310 | DNAH11 | c.6539dup (p.Ser2181GlufsTer2) c.6560dup (p.Ser2188GlufsTer2) | gnomAD v4 |
7 | g.21705529A>C | CA366938279 | DNAH11 | c.6538A>C (p.Lys2180Gln) c.6559A>C (p.Lys2187Gln) | |
7 | g.21705529A>G | CA366938284 | DNAH11 | c.6538A>G (p.Lys2180Glu) c.6559A>G (p.Lys2187Glu) | |
7 | g.21705529A>T | CA366938282 | DNAH11 | c.6538A>T (p.Lys2180Ter) c.6559A>T (p.Lys2187Ter) | |
7 | g.21705530A>C | CA366938286 | DNAH11 | c.6539A>C (p.Lys2180Thr) c.6560A>C (p.Lys2187Thr) | |
7 | g.21705530A>G | CA366938290 | DNAH11 | c.6539A>G (p.Lys2180Arg) c.6560A>G (p.Lys2187Arg) | |
7 | g.21705530A>T | CA366938288 | DNAH11 | c.6539A>T (p.Lys2180Met) c.6560A>T (p.Lys2187Met) | |
7 | g.21705531G>A | CA453964950 | DNAH11 | c.6540G>A (p.Lys2180=) c.6561G>A (p.Lys2187=) | |
7 | g.21705531G>C | CA366938292 | DNAH11 | c.6540G>C (p.Lys2180Asn) c.6561G>C (p.Lys2187Asn) | dbSNP |
7 | g.21705531G= | CA1693626678 | DNAH11 | c.6540G= (p.Lys2180=) c.6561G= (p.Lys2187=) | |
7 | g.21705531G>T | CA366938294 | DNAH11 | c.6540G>T (p.Lys2180Asn) c.6561G>T (p.Lys2187Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21705532A= | CA1693626685 | DNAH11 | c.6541A= (p.Ser2181=) c.6562A= (p.Ser2188=) | |
7 | g.21705532A>C | CA366938295 | DNAH11 | c.6541A>C (p.Ser2181Arg) c.6562A>C (p.Ser2188Arg) | |
7 | g.21705532A>G | CA366938297 | DNAH11 | c.6541A>G (p.Ser2181Gly) c.6562A>G (p.Ser2188Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21705532A>T | CA366938298 | DNAH11 | c.6541A>T (p.Ser2181Cys) c.6562A>T (p.Ser2188Cys) | |
7 | g.21705533G>A | CA366938301 | DNAH11 | c.6542G>A (p.Ser2181Asn) c.6563G>A (p.Ser2188Asn) | dbSNP |
7 | g.21705533G>C | CA366938303 | DNAH11 | c.6542G>C (p.Ser2181Thr) c.6563G>C (p.Ser2188Thr) | |
7 | g.21705533G>T | CA366938305 | DNAH11 | c.6542G>T (p.Ser2181Ile) c.6563G>T (p.Ser2188Ile) | |
7 | g.21705534T>A | CA366938307 | DNAH11 | c.6543T>A (p.Ser2181Arg) c.6564T>A (p.Ser2188Arg) | gnomAD v4 |
7 | g.21705534T>C | CA453964951 | DNAH11 | c.6543T>C (p.Ser2181=) c.6564T>C (p.Ser2188=) | |
7 | g.21705534T>G | CA366938309 | DNAH11 | c.6543T>G (p.Ser2181Arg) c.6564T>G (p.Ser2188Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21705534T= | CA1693626691 | DNAH11 | c.6543T= (p.Ser2181=) c.6564T= (p.Ser2188=) | |
7 | g.21705535A>C | CA366938311 | DNAH11 | c.6544A>C (p.Lys2182Gln) c.6565A>C (p.Lys2189Gln) | |
7 | g.21705535A>G | CA366938312 | DNAH11 | c.6544A>G (p.Lys2182Glu) c.6565A>G (p.Lys2189Glu) | gnomAD v4 |
7 | g.21705535A>T | CA366938315 | DNAH11 | c.6544A>T (p.Lys2182Ter) c.6565A>T (p.Lys2189Ter) | |
7 | g.21705536A= | CA1693626697 | DNAH11 | c.6545A= (p.Lys2182=) c.6566A= (p.Lys2189=) | |
7 | g.21705536A>C | CA366938323 | DNAH11 | c.6545A>C (p.Lys2182Thr) c.6566A>C (p.Lys2189Thr) | |
7 | g.21705536A>G | CA366938322 | DNAH11 | c.6545A>G (p.Lys2182Arg) c.6566A>G (p.Lys2189Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21705536A>T | CA366938317 | DNAH11 | c.6545A>T (p.Lys2182Met) c.6566A>T (p.Lys2189Met) | |
7 | g.21705537G>A | CA453964953 | DNAH11 | c.6546G>A (p.Lys2182=) c.6567G>A (p.Lys2189=) | |
7 | g.21705537G>C | CA10604619 | DNAH11 | c.6546G>C (p.Lys2182Asn) c.6567G>C (p.Lys2189Asn) | ClinVar dbSNP |
7 | g.21705537G= | CA1693626700 | DNAH11 | c.6546G= (p.Lys2182=) c.6567G= (p.Lys2189=) | |
7 | g.21705537G>T | CA366938327 | DNAH11 | c.6546G>T (p.Lys2182Asn) c.6567G>T (p.Lys2189Asn) | |
7 | g.21705538G>A | CA4180856 | DNAH11 | c.6546+1G>A (n.6546+1G>A) c.6567+1G>A (n.6567+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705538G>C | CA366938331 | DNAH11 | c.6546+1G>C (n.6546+1G>C) c.6567+1G>C (n.6567+1G>C) | |
7 | g.21705538G= | CA1693626711 | DNAH11 | c.6546+1G= (n.6546+1G=) c.6567+1G= (n.6567+1G=) | |
7 | g.21705538G>T | CA366938333 | DNAH11 | c.6546+1G>T (n.6546+1G>T) c.6567+1G>T (n.6567+1G>T) | gnomAD v4 COSMIC COSMIC |
7 | g.21705539T>A | CA366938335 | DNAH11 | c.6546+2T>A (n.6546+2T>A) c.6567+2T>A (n.6567+2T>A) | |
7 | g.21705539T>C | CA4180857 | DNAH11 | c.6546+2T>C (n.6546+2T>C) c.6567+2T>C (n.6567+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705539T>G | CA366938338 | DNAH11 | c.6546+2T>G (n.6546+2T>G) c.6567+2T>G (n.6567+2T>G) | |
7 | g.21705539T= | CA1693626716 | DNAH11 | c.6546+2T= (n.6546+2T=) c.6567+2T= (n.6567+2T=) | |
7 | g.21705540A= | CA1693626720 | DNAH11 | c.6546+3A= (n.6546+3A=) c.6567+3A= (n.6567+3A=) | |
7 | g.21705540A>G | CA4180858 | DNAH11 | c.6546+3A>G (n.6546+3A>G) c.6567+3A>G (n.6567+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705541T>C | CA4180859 | DNAH11 | c.6546+4T>C (n.6546+4T>C) c.6567+4T>C (n.6567+4T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705541T= | CA1693626727 | DNAH11 | c.6546+4T= (n.6546+4T=) c.6567+4T= (n.6567+4T=) | |
7 | g.21705542A= | CA1693626731 | DNAH11 | c.6546+5A= (n.6546+5A=) c.6567+5A= (n.6567+5A=) | |
7 | g.21705542A>C | CA4180860 | DNAH11 | c.6546+5A>C (n.6546+5A>C) c.6567+5A>C (n.6567+5A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705542A>G | CA572920093 | DNAH11 | c.6546+5A>G (n.6546+5A>G) c.6567+5A>G (n.6567+5A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705543G>C | CA4180861 | DNAH11 | c.6546+6G>C (n.6546+6G>C) c.6567+6G>C (n.6567+6G>C) | dbSNP ExAC gnomAD v4 |
7 | g.21705543G= | CA1693626735 | DNAH11 | c.6546+6G= (n.6546+6G=) c.6567+6G= (n.6567+6G=) | |
7 | g.21705544T>C | CA2578843043 | DNAH11 | c.6546+7T>C (n.6546+7T>C) c.6567+7T>C (n.6567+7T>C) | |
7 | g.21705549T>C | CA1693626741 | DNAH11 | c.6546+12T>C (n.6546+12T>C) c.6567+12T>C (n.6567+12T>C) | ClinVar dbSNP gnomAD v4 |
7 | g.21705549T= | CA1693626738 | DNAH11 | c.6546+12T= (n.6546+12T=) c.6567+12T= (n.6567+12T=) | |
7 | g.21705550G>C | CA4180862 | DNAH11 | c.6546+13G>C (n.6546+13G>C) c.6567+13G>C (n.6567+13G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705550G= | CA1693626746 | DNAH11 | c.6546+13G= (n.6546+13G=) c.6567+13G= (n.6567+13G=) | |
7 | g.21705550G>T | CA4180863 | DNAH11 | c.6546+13G>T (n.6546+13G>T) c.6567+13G>T (n.6567+13G>T) | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.21705552C= | CA1693626751 | DNAH11 | c.6546+15C= (n.6546+15C=) c.6567+15C= (n.6567+15C=) | |
7 | g.21705552C>G | CA1693626754 | DNAH11 | c.6546+15C>G (n.6546+15C>G) c.6567+15C>G (n.6567+15C>G) | dbSNP gnomAD v4 |
7 | g.21705552C>T | CA4180864 | DNAH11 | c.6546+15C>T (n.6546+15C>T) c.6567+15C>T (n.6567+15C>T) | dbSNP ExAC gnomAD v2 |
7 | g.21705554A= | CA1693626755 | DNAH11 | c.6546+17A= (n.6546+17A=) c.6567+17A= (n.6567+17A=) | |
7 | g.21705554A>C | CA2681984311 | DNAH11 | c.6546+17A>C (n.6546+17A>C) c.6567+17A>C (n.6567+17A>C) | gnomAD v4 |
7 | g.21705554A>G | CA2681984312 | DNAH11 | c.6546+17A>G (n.6546+17A>G) c.6567+17A>G (n.6567+17A>G) | gnomAD v4 |
7 | g.21705554A>T | CA572920094 | DNAH11 | c.6546+17A>T (n.6546+17A>T) c.6567+17A>T (n.6567+17A>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21705555A= | CA1693626756 | DNAH11 | c.6546+18A= (n.6546+18A=) c.6567+18A= (n.6567+18A=) | |
7 | g.21705555A>C | CA4180865 | DNAH11 | c.6546+18A>C (n.6546+18A>C) c.6567+18A>C (n.6567+18A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705555A>G | CA2681984313 | DNAH11 | c.6546+18A>G (n.6546+18A>G) c.6567+18A>G (n.6567+18A>G) | gnomAD v4 |
7 | g.21705555A>T | CA4180866 | DNAH11 | c.6546+18A>T (n.6546+18A>T) c.6567+18A>T (n.6567+18A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705556T>A | CA836648576 | DNAH11 | c.6546+19T>A (n.6546+19T>A) c.6567+19T>A (n.6567+19T>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21705556T>C | CA2681984314 | DNAH11 | c.6546+19T>C (n.6546+19T>C) c.6567+19T>C (n.6567+19T>C) | gnomAD v4 |
7 | g.21705556T= | CA1693626758 | DNAH11 | c.6546+19T= (n.6546+19T=) c.6567+19T= (n.6567+19T=) | |
7 | g.21705557A= | CA1693626761 | DNAH11 | c.6546+20A= (n.6546+20A=) c.6567+20A= (n.6567+20A=) | |
7 | g.21705557A>C | CA155077595 | DNAH11 | c.6546+20A>C (n.6546+20A>C) c.6567+20A>C (n.6567+20A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705557A>G | CA155077600 | DNAH11 | c.6546+20A>G (n.6546+20A>G) c.6567+20A>G (n.6567+20A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705557A>T | CA2681984315 | DNAH11 | c.6546+20A>T (n.6546+20A>T) c.6567+20A>T (n.6567+20A>T) | gnomAD v4 |
7 | g.21705559C= | CA1693626763 | DNAH11 | c.6546+22C= (n.6546+22C=) c.6567+22C= (n.6567+22C=) | |
7 | g.21705559C>T | CA1693626765 | DNAH11 | c.6546+22C>T (n.6546+22C>T) c.6567+22C>T (n.6567+22C>T) | dbSNP |
7 | g.21705560T>A | CA4180867 | DNAH11 | c.6546+23T>A (n.6546+23T>A) c.6567+23T>A (n.6567+23T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705560T>C | CA2578843044 | DNAH11 | c.6546+23T>C (n.6546+23T>C) c.6567+23T>C (n.6567+23T>C) | |
7 | g.21705560T>G | CA2681984316 | DNAH11 | c.6546+23T>G (n.6546+23T>G) c.6567+23T>G (n.6567+23T>G) | gnomAD v4 |
7 | g.21705560T= | CA1693626767 | DNAH11 | c.6546+23T= (n.6546+23T=) c.6567+23T= (n.6567+23T=) | |
7 | g.21705560_21705561insG | CA2681984317 | DNAH11 | c.6546+23_6546+24insG (n.6546+23_6546+24insG) c.6567+23_6567+24insG (n.6567+23_6567+24insG) | gnomAD v4 |
7 | g.21705562A= | CA1693626769 | DNAH11 | c.6546+25A= (n.6546+25A=) c.6567+25A= (n.6567+25A=) | |
7 | g.21705562A>G | CA572920095 | DNAH11 | c.6546+25A>G (n.6546+25A>G) c.6567+25A>G (n.6567+25A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21705563del | CA2681984318 | DNAH11 | c.6546+26del (n.6546+26del) c.6567+26del (n.6567+26del) | gnomAD v4 |
7 | g.21705563C>A | CA836648583 | DNAH11 | c.6546+26C>A (n.6546+26C>A) c.6567+26C>A (n.6567+26C>A) | dbSNP gnomAD v4 |
7 | g.21705563C= | CA1693626771 | DNAH11 | c.6546+26C= (n.6546+26C=) c.6567+26C= (n.6567+26C=) | |
7 | g.21705563C>G | CA4180868 | DNAH11 | c.6546+26C>G (n.6546+26C>G) c.6567+26C>G (n.6567+26C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705564A= | CA1693626774 | DNAH11 | c.6546+27A= (n.6546+27A=) c.6567+27A= (n.6567+27A=) | |
7 | g.21705564A>T | CA4180869 | DNAH11 | c.6546+27A>T (n.6546+27A>T) c.6567+27A>T (n.6567+27A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705565G>A | CA2714091795 | DNAH11 | c.6546+28G>A (n.6546+28G>A) c.6567+28G>A (n.6567+28G>A) | dbSNP |
7 | g.21705565G>C | CA2681984319 | DNAH11 | c.6546+28G>C (n.6546+28G>C) c.6567+28G>C (n.6567+28G>C) | gnomAD v4 |
7 | g.21705566C>A | CA2681984320 | DNAH11 | c.6546+29C>A (n.6546+29C>A) c.6567+29C>A (n.6567+29C>A) | gnomAD v4 |
7 | g.21705566C= | CA1693626778 | DNAH11 | c.6546+29C= (n.6546+29C=) c.6567+29C= (n.6567+29C=) | |
7 | g.21705566C>T | CA4180870 | DNAH11 | c.6546+29C>T (n.6546+29C>T) c.6567+29C>T (n.6567+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705567T>A | CA2681984321 | DNAH11 | c.6546+30T>A (n.6546+30T>A) c.6567+30T>A (n.6567+30T>A) | gnomAD v4 |
7 | g.21705568A= | CA1693626779 | DNAH11 | c.6546+31A= (n.6546+31A=) c.6567+31A= (n.6567+31A=) | |
7 | g.21705568A>C | CA2774677599 | DNAH11 | c.6546+31A>C (n.6546+31A>C) c.6567+31A>C (n.6567+31A>C) | |
7 | g.21705568A>G | CA572920096 | DNAH11 | c.6546+31A>G (n.6546+31A>G) c.6567+31A>G (n.6567+31A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21705568A>T | CA2681984322 | DNAH11 | c.6546+31A>T (n.6546+31A>T) c.6567+31A>T (n.6567+31A>T) | gnomAD v4 |
7 | g.21705569T>G | CA572920097 | DNAH11 | c.6546+32T>G (n.6546+32T>G) c.6567+32T>G (n.6567+32T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705569T= | CA1693626780 | DNAH11 | c.6546+32T= (n.6546+32T=) c.6567+32T= (n.6567+32T=) | |
7 | g.21705569_21705570insTA | CA2681984323 | DNAH11 | c.6546+32_6546+33insTA (n.6546+32_6546+33insTA) c.6567+32_6567+33insTA (n.6567+32_6567+33insTA) | gnomAD v4 |
7 | g.21705571G>A | CA2681984324 | DNAH11 | c.6546+34G>A (n.6546+34G>A) c.6567+34G>A (n.6567+34G>A) | gnomAD v4 |
7 | g.21705571G>C | CA2681984325 | DNAH11 | c.6546+34G>C (n.6546+34G>C) c.6567+34G>C (n.6567+34G>C) | gnomAD v4 |
7 | g.21705574A>G | CA2681984326 | DNAH11 | c.6546+37A>G (n.6546+37A>G) c.6567+37A>G (n.6567+37A>G) | gnomAD v4 |
7 | g.21705575G>C | CA2681984327 | DNAH11 | c.6546+38G>C (n.6546+38G>C) c.6567+38G>C (n.6567+38G>C) | gnomAD v4 |
7 | g.21705575G>T | CA2681984328 | DNAH11 | c.6546+38G>T (n.6546+38G>T) c.6567+38G>T (n.6567+38G>T) | gnomAD v4 |
7 | g.21705576A= | CA1693626783 | DNAH11 | c.6546+39A= (n.6546+39A=) c.6567+39A= (n.6567+39A=) | |
7 | g.21705576A>G | CA572920098 | DNAH11 | c.6546+39A>G (n.6546+39A>G) c.6567+39A>G (n.6567+39A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21705578C>A | CA1693626790 | DNAH11 | c.6546+41C>A (n.6546+41C>A) c.6567+41C>A (n.6567+41C>A) | dbSNP gnomAD v4 |
7 | g.21705578C= | CA1693626787 | DNAH11 | c.6546+41C= (n.6546+41C=) c.6567+41C= (n.6567+41C=) | |
7 | g.21705578C>G | CA836648594 | DNAH11 | c.6546+41C>G (n.6546+41C>G) c.6567+41C>G (n.6567+41C>G) | dbSNP |
7 | g.21705578C>T | CA2681984329 | DNAH11 | c.6546+41C>T (n.6546+41C>T) c.6567+41C>T (n.6567+41C>T) | gnomAD v4 |
7 | g.21705579A= | CA1693626794 | DNAH11 | c.6546+42A= (n.6546+42A=) c.6567+42A= (n.6567+42A=) | |
7 | g.21705579A>G | CA155077612 | DNAH11 | c.6546+42A>G (n.6546+42A>G) c.6567+42A>G (n.6567+42A>G) | dbSNP gnomAD v4 |