UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.21558787T>C | CA2681976671 | DNAH11 | c.496-15T>C (n.496-15T>C) | gnomAD v4 |
| 7 | g.21558789T>C | CA2681976672 | DNAH11 | c.496-13T>C (n.496-13T>C) | gnomAD v4 |
| 7 | g.21558789T>G | CA573292113 | DNAH11 | c.496-13T>G (n.496-13T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21558789T= | CA1693539061 | DNAH11 | c.496-13T= (n.496-13T=) | |
| 7 | g.21558790C>A | CA2681976673 | DNAH11 | c.496-12C>A (n.496-12C>A) | gnomAD v4 |
| 7 | g.21558790C= | CA1693539067 | DNAH11 | c.496-12C= (n.496-12C=) | |
| 7 | g.21558790C>G | CA4178696 | DNAH11 | c.496-12C>G (n.496-12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558790C>T | CA573292114 | DNAH11 | c.496-12C>T (n.496-12C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21558792C>A | CA2681976674 | DNAH11 | c.496-10C>A (n.496-10C>A) | gnomAD v4 |
| 7 | g.21558792C= | CA1693539078 | DNAH11 | c.496-10C= (n.496-10C=) | |
| 7 | g.21558792C>G | CA1139659986 | DNAH11 | c.496-10C>G (n.496-10C>G) | ClinVar dbSNP |
| 7 | g.21558793T>C | CA1693539081 | DNAH11 | c.496-9T>C (n.496-9T>C) | dbSNP |
| 7 | g.21558793T>G | CA2681976675 | DNAH11 | c.496-9T>G (n.496-9T>G) | gnomAD v4 |
| 7 | g.21558793T= | CA1693539080 | DNAH11 | c.496-9T= (n.496-9T=) | |
| 7 | g.21558795T>C | CA2681976676 | DNAH11 | c.496-7T>C (n.496-7T>C) | gnomAD v4 |
| 7 | g.21558798_21558799del | CA2578842249 | DNAH11 | c.496-4_496-3del (n.496-4_496-3del) | |
| 7 | g.21558796C>A | CA2681976677 | DNAH11 | c.496-6C>A (n.496-6C>A) | gnomAD v4 |
| 7 | g.21558796C= | CA1693539084 | DNAH11 | c.496-6C= (n.496-6C=) | |
| 7 | g.21558796C>T | CA573292115 | DNAH11 | c.496-6C>T (n.496-6C>T) | dbSNP gnomAD v2 |
| 7 | g.21558797T>C | CA4178697 | DNAH11 | c.496-5T>C (n.496-5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558797T= | CA1693539087 | DNAH11 | c.496-5T= (n.496-5T=) | |
| 7 | g.21558798C= | CA1693539090 | DNAH11 | c.496-4C= (n.496-4C=) | |
| 7 | g.21558798C>G | CA573292116 | DNAH11 | c.496-4C>G (n.496-4C>G) | dbSNP gnomAD v2 |
| 7 | g.21558798C>T | CA2681976678 | DNAH11 | c.496-4C>T (n.496-4C>T) | gnomAD v4 |
| 7 | g.21558800A>C | CA366932155 | DNAH11 | c.496-2A>C (n.496-2A>C) | |
| 7 | g.21558800A>G | CA366932156 | DNAH11 | c.496-2A>G (n.496-2A>G) | |
| 7 | g.21558800A>T | CA366932159 | DNAH11 | c.496-2A>T (n.496-2A>T) | |
| 7 | g.21558801G>A | CA366932166 | DNAH11 | c.496-1G>A (n.496-1G>A) | |
| 7 | g.21558801G>C | CA366932162 | DNAH11 | c.496-1G>C (n.496-1G>C) | |
| 7 | g.21558801G>T | CA366932164 | DNAH11 | c.496-1G>T (n.496-1G>T) | |
| 7 | g.21558802A= | CA1693539097 | DNAH11 | c.496A= (p.Ile166=) | |
| 7 | g.21558802A>C | CA366932167 | DNAH11 | c.496A>C (p.Ile166Leu) | |
| 7 | g.21558802A>G | CA4178698 | DNAH11 | c.496A>G (p.Ile166Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558802A>T | CA366932170 | DNAH11 | c.496A>T (p.Ile166Phe) | |
| 7 | g.21558803T>A | CA366932173 | DNAH11 | c.497T>A (p.Ile166Asn) | dbSNP |
| 7 | g.21558803T>C | CA366932175 | DNAH11 | c.497T>C (p.Ile166Thr) | |
| 7 | g.21558803T>G | CA366932177 | DNAH11 | c.497T>G (p.Ile166Ser) | |
| 7 | g.21558803T= | CA1693539106 | DNAH11 | c.497T= (p.Ile166=) | |
| 7 | g.21558804T>A | CA453962239 | DNAH11 | c.498T>A (p.Ile166=) | |
| 7 | g.21558804T>C | CA453962241 | DNAH11 | c.498T>C (p.Ile166=) | |
| 7 | g.21558804T>G | CA366932180 | DNAH11 | c.498T>G (p.Ile166Met) | gnomAD v4 |
| 7 | g.21558805T>A | CA366932182 | DNAH11 | c.499T>A (p.Leu167Ile) | |
| 7 | g.21558805T>C | CA453962242 | DNAH11 | c.499T>C (p.Leu167=) | |
| 7 | g.21558805T>G | CA366932184 | DNAH11 | c.499T>G (p.Leu167Val) | |
| 7 | g.21558806T>A | CA366932186 | DNAH11 | c.500T>A (p.Leu167Ter) | |
| 7 | g.21558806T>C | CA155074255 | DNAH11 | c.500T>C (p.Leu167Ser) | dbSNP |
| 7 | g.21558806T>G | CA366932189 | DNAH11 | c.500T>G (p.Leu167Ter) | |
| 7 | g.21558806T= | CA1693539114 | DNAH11 | c.500T= (p.Leu167=) | |
| 7 | g.21558807A= | CA1693539121 | DNAH11 | c.501A= (p.Leu167=) | |
| 7 | g.21558807A>C | CA366932192 | DNAH11 | c.501A>C (p.Leu167Phe) | |
| 7 | g.21558807A>G | CA4178699 | DNAH11 | c.501A>G (p.Leu167=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21558807A>T | CA366932194 | DNAH11 | c.501A>T (p.Leu167Phe) | |
| 7 | g.21558808G>A | CA366932197 | DNAH11 | c.502G>A (p.Val168Met) | dbSNP |
| 7 | g.21558808G>C | CA366932198 | DNAH11 | c.502G>C (p.Val168Leu) | gnomAD v4 |
| 7 | g.21558808G= | CA1693539127 | DNAH11 | c.502G= (p.Val168=) | |
| 7 | g.21558808G>T | CA366932199 | DNAH11 | c.502G>T (p.Val168Leu) | gnomAD v4 |
| 7 | g.21558809T>A | CA366932201 | DNAH11 | c.503T>A (p.Val168Glu) | |
| 7 | g.21558809T>C | CA366932202 | DNAH11 | c.503T>C (p.Val168Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21558809T>G | CA366932204 | DNAH11 | c.503T>G (p.Val168Gly) | gnomAD v4 |
| 7 | g.21558809T= | CA1693539129 | DNAH11 | c.503T= (p.Val168=) | |
| 7 | g.21558810G>A | CA453962247 | DNAH11 | c.504G>A (p.Val168=) | gnomAD v4 |
| 7 | g.21558810G>C | CA453962248 | DNAH11 | c.504G>C (p.Val168=) | |
| 7 | g.21558810G>T | CA453962249 | DNAH11 | c.504G>T (p.Val168=) | gnomAD v4 |
| 7 | g.21558811C>A | CA366932210 | DNAH11 | c.505C>A (p.Pro169Thr) | gnomAD v4 |
| 7 | g.21558811C= | CA1693539135 | DNAH11 | c.505C= (p.Pro169=) | |
| 7 | g.21558811C>G | CA4178700 | DNAH11 | c.505C>G (p.Pro169Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21558811C>T | CA366932208 | DNAH11 | c.505C>T (p.Pro169Ser) | COSMIC COSMIC |
| 7 | g.21558812C>A | CA366932212 | DNAH11 | c.506C>A (p.Pro169Gln) | gnomAD v4 |
| 7 | g.21558812C>G | CA366932214 | DNAH11 | c.506C>G (p.Pro169Arg) | |
| 7 | g.21558812C>T | CA366932216 | DNAH11 | c.506C>T (p.Pro169Leu) | |
| 7 | g.21558813A= | CA1693539137 | DNAH11 | c.507A= (p.Pro169=) | |
| 7 | g.21558813A>C | CA155074295 | DNAH11 | c.507A>C (p.Pro169=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21558813A>G | CA4178701 | DNAH11 | c.507A>G (p.Pro169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558813A>T | CA453962252 | DNAH11 | c.507A>T (p.Pro169=) | |
| 7 | g.21558814G>A | CA4178702 | DNAH11 | c.508G>A (p.Val170Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558814G>C | CA366932220 | DNAH11 | c.508G>C (p.Val170Leu) | |
| 7 | g.21558814G= | CA1693539147 | DNAH11 | c.508G= (p.Val170=) | |
| 7 | g.21558814G>T | CA4178703 | DNAH11 | c.508G>T (p.Val170Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558815T>A | CA366932225 | DNAH11 | c.509T>A (p.Val170Asp) | |
| 7 | g.21558815T>C | CA366932227 | DNAH11 | c.509T>C (p.Val170Ala) | |
| 7 | g.21558815T>G | CA366932230 | DNAH11 | c.509T>G (p.Val170Gly) | |
| 7 | g.21558816T>A | CA453962255 | DNAH11 | c.510T>A (p.Val170=) | |
| 7 | g.21558816T>C | CA453962256 | DNAH11 | c.510T>C (p.Val170=) | |
| 7 | g.21558816T>G | CA453962254 | DNAH11 | c.510T>G (p.Val170=) | dbSNP |
| 7 | g.21558816T= | CA1693539153 | DNAH11 | c.510T= (p.Val170=) | |
| 7 | g.21558816_21558817insA | CA645545664 | DNAH11 | c.510_511insA (p.Leu171ThrfsTer3) | COSMIC |
| 7 | g.21558817C>A | CA366932233 | DNAH11 | c.511C>A (p.Leu171Ile) | |
| 7 | g.21558817C>G | CA366932235 | DNAH11 | c.511C>G (p.Leu171Val) | |
| 7 | g.21558817C>T | CA366932237 | DNAH11 | c.511C>T (p.Leu171Phe) | COSMIC COSMIC |
| 7 | g.21558817_21558818insA | CA453962258 | DNAH11 | c.511_512insA (p.Leu171HisfsTer3) | |
| 7 | g.21558818T>A | CA366932240 | DNAH11 | c.512T>A (p.Leu171His) | |
| 7 | g.21558818T>C | CA366932242 | DNAH11 | c.512T>C (p.Leu171Pro) | |
| 7 | g.21558818T>G | CA366932244 | DNAH11 | c.512T>G (p.Leu171Arg) | |
| 7 | g.21558819T>A | CA453962260 | DNAH11 | c.513T>A (p.Leu171=) | |
| 7 | g.21558819T>C | CA453962262 | DNAH11 | c.513T>C (p.Leu171=) | gnomAD v4 |
| 7 | g.21558819T>G | CA453962263 | DNAH11 | c.513T>G (p.Leu171=) | |
| 7 | g.21558820T>A | CA366932246 | DNAH11 | c.514T>A (p.Ser172Thr) | |
| 7 | g.21558820T>C | CA366932247 | DNAH11 | c.514T>C (p.Ser172Pro) | |
| 7 | g.21558820T>G | CA366932249 | DNAH11 | c.514T>G (p.Ser172Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21558820T= | CA1693539156 | DNAH11 | c.514T= (p.Ser172=) | |
| 7 | g.21558820_21558821delinsTC | CA1693539157 | DNAH11 | c.514_515delinsTC (p.Ser172=) | |
| 7 | g.21558821del | CA1693539162 | DNAH11 | c.515del (p.Ser172LeufsTer21) | dbSNP |
| 7 | g.21558821C>A | CA366932251 | DNAH11 | c.515C>A (p.Ser172Tyr) | dbSNP gnomAD v4 |
| 7 | g.21558821C= | CA1693539161 | DNAH11 | c.515C= (p.Ser172=) | |
| 7 | g.21558821C>G | CA366932254 | DNAH11 | c.515C>G (p.Ser172Cys) | |
| 7 | g.21558821C>T | CA366932253 | DNAH11 | c.515C>T (p.Ser172Phe) | |
| 7 | g.21558822T>A | CA453962265 | DNAH11 | c.516T>A (p.Ser172=) | |
| 7 | g.21558822T>C | CA453962266 | DNAH11 | c.516T>C (p.Ser172=) | dbSNP gnomAD v2 |
| 7 | g.21558822T>G | CA453962267 | DNAH11 | c.516T>G (p.Ser172=) | |
| 7 | g.21558822T= | CA1693539165 | DNAH11 | c.516T= (p.Ser172=) | |
| 7 | g.21558823A>C | CA366932256 | DNAH11 | c.517A>C (p.Asn173His) | |
| 7 | g.21558823A>G | CA366932258 | DNAH11 | c.517A>G (p.Asn173Asp) | |
| 7 | g.21558823A>T | CA366932260 | DNAH11 | c.517A>T (p.Asn173Tyr) | |
| 7 | g.21558824A= | CA1693539169 | DNAH11 | c.518A= (p.Asn173=) | |
| 7 | g.21558824A>C | CA366932263 | DNAH11 | c.518A>C (p.Asn173Thr) | |
| 7 | g.21558824A>G | CA366932265 | DNAH11 | c.518A>G (p.Asn173Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21558824A>T | CA366932267 | DNAH11 | c.518A>T (p.Asn173Ile) | |
| 7 | g.21558825T>A | CA366932270 | DNAH11 | c.519T>A (p.Asn173Lys) | |
| 7 | g.21558825T>C | CA453962270 | DNAH11 | c.519T>C (p.Asn173=) | |
| 7 | g.21558825T>G | CA366932271 | DNAH11 | c.519T>G (p.Asn173Lys) | |
| 7 | g.21558826A>C | CA366932274 | DNAH11 | c.520A>C (p.Lys174Gln) | |
| 7 | g.21558826A>G | CA366932276 | DNAH11 | c.520A>G (p.Lys174Glu) | |
| 7 | g.21558826A>T | CA366932278 | DNAH11 | c.520A>T (p.Lys174Ter) | |
| 7 | g.21558827A>C | CA366932285 | DNAH11 | c.521A>C (p.Lys174Thr) | |
| 7 | g.21558827A>G | CA366932283 | DNAH11 | c.521A>G (p.Lys174Arg) | |
| 7 | g.21558827A>T | CA366932280 | DNAH11 | c.521A>T (p.Lys174Met) | |
| 7 | g.21558828G>A | CA453962271 | DNAH11 | c.522G>A (p.Lys174=) | |
| 7 | g.21558828G>C | CA366932288 | DNAH11 | c.522G>C (p.Lys174Asn) | |
| 7 | g.21558828G= | CA1693539174 | DNAH11 | c.522G= (p.Lys174=) | |
| 7 | g.21558828G>T | CA366932289 | DNAH11 | c.522G>T (p.Lys174Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558829A>C | CA366932292 | DNAH11 | c.523A>C (p.Asn175His) | |
| 7 | g.21558829A>G | CA366932294 | DNAH11 | c.523A>G (p.Asn175Asp) | |
| 7 | g.21558829A>T | CA366932296 | DNAH11 | c.523A>T (p.Asn175Tyr) | |
| 7 | g.21558830A>C | CA366932298 | DNAH11 | c.524A>C (p.Asn175Thr) | |
| 7 | g.21558830A>G | CA366932300 | DNAH11 | c.524A>G (p.Asn175Ser) | |
| 7 | g.21558830A>T | CA366932302 | DNAH11 | c.524A>T (p.Asn175Ile) | |
| 7 | g.21558831C>A | CA4178704 | DNAH11 | c.525C>A (p.Asn175Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21558831C= | CA1693539176 | DNAH11 | c.525C= (p.Asn175=) | |
| 7 | g.21558831C>G | CA366932305 | DNAH11 | c.525C>G (p.Asn175Lys) | gnomAD v4 |
| 7 | g.21558831C>T | CA453962276 | DNAH11 | c.525C>T (p.Asn175=) | gnomAD v4 |
| 7 | g.21558832A= | CA1693539181 | DNAH11 | c.526A= (p.Asn176=) | |
| 7 | g.21558832A>C | CA366932306 | DNAH11 | c.526A>C (p.Asn176His) | |
| 7 | g.21558832A>G | CA366932307 | DNAH11 | c.526A>G (p.Asn176Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21558832A>T | CA366932308 | DNAH11 | c.526A>T (p.Asn176Tyr) | |
| 7 | g.21558833A= | CA1693539183 | DNAH11 | c.527A= (p.Asn176=) | |
| 7 | g.21558833A>C | CA366932310 | DNAH11 | c.527A>C (p.Asn176Thr) | |
| 7 | g.21558833A>G | CA366932311 | DNAH11 | c.527A>G (p.Asn176Ser) | dbSNP |
| 7 | g.21558833A>T | CA366932309 | DNAH11 | c.527A>T (p.Asn176Ile) | |
| 7 | g.21558834C>A | CA366932313 | DNAH11 | c.528C>A (p.Asn176Lys) | gnomAD v4 |
| 7 | g.21558834C>G | CA366932312 | DNAH11 | c.528C>G (p.Asn176Lys) | |
| 7 | g.21558834C>T | CA453962278 | DNAH11 | c.528C>T (p.Asn176=) | gnomAD v4 |
| 7 | g.21558835C>A | CA366932314 | DNAH11 | c.529C>A (p.His177Asn) | gnomAD v4 |
| 7 | g.21558835C= | CA1693539189 | DNAH11 | c.529C= (p.His177=) | |
| 7 | g.21558835C>G | CA4178705 | DNAH11 | c.529C>G (p.His177Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21558835C>T | CA366932315 | DNAH11 | c.529C>T (p.His177Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558836A= | CA1693539196 | DNAH11 | c.530A= (p.His177=) | |
| 7 | g.21558836A>C | CA366932316 | DNAH11 | c.530A>C (p.His177Pro) | |
| 7 | g.21558836A>G | CA4178706 | DNAH11 | c.530A>G (p.His177Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21558836A>T | CA366932317 | DNAH11 | c.530A>T (p.His177Leu) | |
| 7 | g.21558837del | CA2739266288 | DNAH11 | c.531del (p.His177GlnfsTer16) | ClinVar |
| 7 | g.21558837T>A | CA366932318 | DNAH11 | c.531T>A (p.His177Gln) | |
| 7 | g.21558837T>C | CA453962279 | DNAH11 | c.531T>C (p.His177=) | |
| 7 | g.21558837T>G | CA366932319 | DNAH11 | c.531T>G (p.His177Gln) | |
| 7 | g.21558838A= | CA1693539200 | DNAH11 | c.532A= (p.Lys178=) | |
| 7 | g.21558838A>C | CA366932320 | DNAH11 | c.532A>C (p.Lys178Gln) | |
| 7 | g.21558838A>G | CA366932321 | DNAH11 | c.532A>G (p.Lys178Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558838A>T | CA366932322 | DNAH11 | c.532A>T (p.Lys178Ter) | |
| 7 | g.21558839A>C | CA366932323 | DNAH11 | c.533A>C (p.Lys178Thr) | |
| 7 | g.21558839A>G | CA366932324 | DNAH11 | c.533A>G (p.Lys178Arg) | |
| 7 | g.21558839A>T | CA366932325 | DNAH11 | c.533A>T (p.Lys178Met) | |
| 7 | g.21558840G>A | CA4178707 | DNAH11 | c.534G>A (p.Lys178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558840G>C | CA366932327 | DNAH11 | c.534G>C (p.Lys178Asn) | |
| 7 | g.21558840G= | CA1693539204 | DNAH11 | c.534G= (p.Lys178=) | |
| 7 | g.21558840G>T | CA366932326 | DNAH11 | c.534G>T (p.Lys178Asn) | |
| 7 | g.21558841T>A | CA366932328 | DNAH11 | c.535T>A (p.Ser179Thr) | |
| 7 | g.21558841T>C | CA366932329 | DNAH11 | c.535T>C (p.Ser179Pro) | |
| 7 | g.21558841T>G | CA366932330 | DNAH11 | c.535T>G (p.Ser179Ala) | |
| 7 | g.21558842C>A | CA366932331 | DNAH11 | c.536C>A (p.Ser179Tyr) | |
| 7 | g.21558842C>G | CA366932332 | DNAH11 | c.536C>G (p.Ser179Cys) | |
| 7 | g.21558842C>T | CA366932333 | DNAH11 | c.536C>T (p.Ser179Phe) | gnomAD v4 |
| 7 | g.21558843C>A | CA453962285 | DNAH11 | c.537C>A (p.Ser179=) | |
| 7 | g.21558843C>G | CA453962286 | DNAH11 | c.537C>G (p.Ser179=) | |
| 7 | g.21558843C>T | CA453962287 | DNAH11 | c.537C>T (p.Ser179=) | |
| 7 | g.21558844T>A | CA366932334 | DNAH11 | c.538T>A (p.Trp180Arg) | |
| 7 | g.21558844T>C | CA366932335 | DNAH11 | c.538T>C (p.Trp180Arg) | |
| 7 | g.21558844T>G | CA366932336 | DNAH11 | c.538T>G (p.Trp180Gly) | |
| 7 | g.21558845G>A | CA366932337 | DNAH11 | c.539G>A (p.Trp180Ter) | gnomAD v4 |
| 7 | g.21558845G>C | CA366932338 | DNAH11 | c.539G>C (p.Trp180Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21558845G= | CA1693539209 | DNAH11 | c.539G= (p.Trp180=) | |
| 7 | g.21558845G>T | CA155074336 | DNAH11 | c.539G>T (p.Trp180Leu) | dbSNP |
| 7 | g.21558846G>A | CA366932340 | DNAH11 | c.540G>A (p.Trp180Ter) | |
| 7 | g.21558846G>C | CA366932341 | DNAH11 | c.540G>C (p.Trp180Cys) | |
| 7 | g.21558846G>T | CA366932339 | DNAH11 | c.540G>T (p.Trp180Cys) | |
| 7 | g.21558847T>A | CA366932342 | DNAH11 | c.541T>A (p.Ser181Thr) | |
| 7 | g.21558847T>C | CA366932343 | DNAH11 | c.541T>C (p.Ser181Pro) | |
| 7 | g.21558847T>G | CA366932344 | DNAH11 | c.541T>G (p.Ser181Ala) | |
| 7 | g.21558848C>A | CA366932345 | DNAH11 | c.542C>A (p.Ser181Tyr) | gnomAD v4 |
| 7 | g.21558848C= | CA1693539218 | DNAH11 | c.542C= (p.Ser181=) | |
| 7 | g.21558848C>G | CA366932346 | DNAH11 | c.542C>G (p.Ser181Cys) | |
| 7 | g.21558848C>T | CA4178708 | DNAH11 | c.542C>T (p.Ser181Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558849C>A | CA453962295 | DNAH11 | c.543C>A (p.Ser181=) | |
| 7 | g.21558849C>G | CA453962296 | DNAH11 | c.543C>G (p.Ser181=) | |
| 7 | g.21558849C>T | CA453962298 | DNAH11 | c.543C>T (p.Ser181=) | gnomAD v4 |
| 7 | g.21558850T>A | CA4178709 | DNAH11 | c.544T>A (p.Cys182Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21558850T>C | CA366932347 | DNAH11 | c.544T>C (p.Cys182Arg) | gnomAD v4 |
| 7 | g.21558850T>G | CA366932348 | DNAH11 | c.544T>G (p.Cys182Gly) | COSMIC COSMIC |
| 7 | g.21558850T= | CA1693539224 | DNAH11 | c.544T= (p.Cys182=) | |
| 7 | g.21558851G>A | CA366932349 | DNAH11 | c.545G>A (p.Cys182Tyr) | gnomAD v4 |
| 7 | g.21558851G>C | CA366932350 | DNAH11 | c.545G>C (p.Cys182Ser) | gnomAD v4 |
| 7 | g.21558851G>T | CA366932351 | DNAH11 | c.545G>T (p.Cys182Phe) | |
| 7 | g.21558852T>A | CA366932352 | DNAH11 | c.546T>A (p.Cys182Ter) | ClinVar dbSNP |
| 7 | g.21558852T>C | CA453962301 | DNAH11 | c.546T>C (p.Cys182=) | |
| 7 | g.21558852T>G | CA366932353 | DNAH11 | c.546T>G (p.Cys182Trp) | |
| 7 | g.21558852T= | CA1693539231 | DNAH11 | c.546T= (p.Cys182=) | |
| 7 | g.21558853T>A | CA366932354 | DNAH11 | c.547T>A (p.Phe183Ile) | |
| 7 | g.21558853T>C | CA366932356 | DNAH11 | c.547T>C (p.Phe183Leu) | |
| 7 | g.21558853T>G | CA366932355 | DNAH11 | c.547T>G (p.Phe183Val) | |
| 7 | g.21558854T>A | CA366932357 | DNAH11 | c.548T>A (p.Phe183Tyr) | |
| 7 | g.21558854T>C | CA366932358 | DNAH11 | c.548T>C (p.Phe183Ser) | |
| 7 | g.21558854T>G | CA366932359 | DNAH11 | c.548T>G (p.Phe183Cys) | gnomAD v4 |
| 7 | g.21558855T>A | CA366932360 | DNAH11 | c.549T>A (p.Phe183Leu) | |
| 7 | g.21558855T>C | CA453962302 | DNAH11 | c.549T>C (p.Phe183=) | ClinVar |
| 7 | g.21558855T>G | CA366932361 | DNAH11 | c.549T>G (p.Phe183Leu) | |
| 7 | g.21558856A>C | CA366932362 | DNAH11 | c.550A>C (p.Thr184Pro) | |
| 7 | g.21558856A>G | CA366932363 | DNAH11 | c.550A>G (p.Thr184Ala) | |
| 7 | g.21558856A>T | CA366932364 | DNAH11 | c.550A>T (p.Thr184Ser) | |
| 7 | g.21558857C>A | CA366932365 | DNAH11 | c.551C>A (p.Thr184Asn) | |
| 7 | g.21558857C>G | CA366932366 | DNAH11 | c.551C>G (p.Thr184Ser) | |
| 7 | g.21558857C>T | CA366932367 | DNAH11 | c.551C>T (p.Thr184Ile) | gnomAD v4 |
| 7 | g.21558858T>A | CA453962305 | DNAH11 | c.552T>A (p.Thr184=) | |
| 7 | g.21558858T>C | CA453962307 | DNAH11 | c.552T>C (p.Thr184=) | |
| 7 | g.21558858T>G | CA453962306 | DNAH11 | c.552T>G (p.Thr184=) | |
| 7 | g.21558859T>A | CA366932370 | DNAH11 | c.553T>A (p.Ser185Thr) | |
| 7 | g.21558859T>C | CA366932369 | DNAH11 | c.553T>C (p.Ser185Pro) | |
| 7 | g.21558859T>G | CA366932368 | DNAH11 | c.553T>G (p.Ser185Ala) | |
| 7 | g.21558860C>A | CA366932371 | DNAH11 | c.554C>A (p.Ser185Ter) | gnomAD v4 |
| 7 | g.21558860C>G | CA366932373 | DNAH11 | c.554C>G (p.Ser185Ter) | |
| 7 | g.21558860C>T | CA366932372 | DNAH11 | c.554C>T (p.Ser185Leu) | |
| 7 | g.21558861A= | CA1693539238 | DNAH11 | c.555A= (p.Ser185=) | |
| 7 | g.21558861A>C | CA453962310 | DNAH11 | c.555A>C (p.Ser185=) | |
| 7 | g.21558861A>G | CA4178710 | DNAH11 | c.555A>G (p.Ser185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558861A>T | CA453962311 | DNAH11 | c.555A>T (p.Ser185=) | |
| 7 | g.21558862C>A | CA366932374 | DNAH11 | c.556C>A (p.Gln186Lys) | gnomAD v4 |
| 7 | g.21558862C= | CA1693539241 | DNAH11 | c.556C= (p.Gln186=) | |
| 7 | g.21558862C>G | CA366932375 | DNAH11 | c.556C>G (p.Gln186Glu) | |
| 7 | g.21558862C>T | CA155074373 | DNAH11 | c.556C>T (p.Gln186Ter) | dbSNP |
| 7 | g.21558863A>C | CA366932376 | DNAH11 | c.557A>C (p.Gln186Pro) | |
| 7 | g.21558863A>G | CA366932377 | DNAH11 | c.557A>G (p.Gln186Arg) | |
| 7 | g.21558863A>T | CA366932378 | DNAH11 | c.557A>T (p.Gln186Leu) | |
| 7 | g.21558864_21558866del | CA2681976679 | DNAH11 | c.558_560del (p.Gln186_Asp187delinsHis) | gnomAD v4 |
| 7 | g.21558864A= | CA1693539245 | DNAH11 | c.558A= (p.Gln186=) | |
| 7 | g.21558864A>C | CA366932379 | DNAH11 | c.558A>C (p.Gln186His) | |
| 7 | g.21558864A>G | CA453962315 | DNAH11 | c.558A>G (p.Gln186=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21558864A>T | CA366932380 | DNAH11 | c.558A>T (p.Gln186His) | gnomAD v4 |
| 7 | g.21558865G>A | CA366932381 | DNAH11 | c.559G>A (p.Asp187Asn) | gnomAD v4 |
| 7 | g.21558865G>C | CA366932382 | DNAH11 | c.559G>C (p.Asp187His) | |
| 7 | g.21558865G>T | CA366932383 | DNAH11 | c.559G>T (p.Asp187Tyr) | |
| 7 | g.21558866A= | CA1693539251 | DNAH11 | c.560A= (p.Asp187=) | |
| 7 | g.21558866A>C | CA366932386 | DNAH11 | c.560A>C (p.Asp187Ala) | |
| 7 | g.21558866A>G | CA366932384 | DNAH11 | c.560A>G (p.Asp187Gly) | ClinVar dbSNP gnomAD v2 |
| 7 | g.21558866A>T | CA366932385 | DNAH11 | c.560A>T (p.Asp187Val) | |
| 7 | g.21558867T>A | CA366932387 | DNAH11 | c.561T>A (p.Asp187Glu) | |
| 7 | g.21558867T>C | CA453962317 | DNAH11 | c.561T>C (p.Asp187=) | |
| 7 | g.21558867T>G | CA366932388 | DNAH11 | c.561T>G (p.Asp187Glu) | |
| 7 | g.21558868A= | CA1693539253 | DNAH11 | c.562A= (p.Met188=) | |
| 7 | g.21558868A>C | CA366932389 | DNAH11 | c.562A>C (p.Met188Leu) | |
| 7 | g.21558868A>G | CA4178711 | DNAH11 | c.562A>G (p.Met188Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558868A>T | CA366932390 | DNAH11 | c.562A>T (p.Met188Leu) | |
| 7 | g.21558869T>A | CA366932391 | DNAH11 | c.563T>A (p.Met188Lys) | |
| 7 | g.21558869T>C | CA4178713 | DNAH11 | c.563T>C (p.Met188Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558869T>G | CA4178712 | DNAH11 | c.563T>G (p.Met188Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558869T= | CA1693539257 | DNAH11 | c.563T= (p.Met188=) | |
| 7 | g.21558870G>A | CA366932392 | DNAH11 | c.564G>A (p.Met188Ile) | |
| 7 | g.21558870G>C | CA366932393 | DNAH11 | c.564G>C (p.Met188Ile) | |
| 7 | g.21558870G>T | CA366932394 | DNAH11 | c.564G>T (p.Met188Ile) | |
| 7 | g.21558871G>A | CA155074396 | DNAH11 | c.565G>A (p.Glu189Lys) | dbSNP |
| 7 | g.21558871G>C | CA366932396 | DNAH11 | c.565G>C (p.Glu189Gln) | |
| 7 | g.21558871G= | CA1693539262 | DNAH11 | c.565G= (p.Glu189=) | |
| 7 | g.21558871G>T | CA366932395 | DNAH11 | c.565G>T (p.Glu189Ter) | |
| 7 | g.21558872A>C | CA366932397 | DNAH11 | c.566A>C (p.Glu189Ala) | |
| 7 | g.21558872A>G | CA366932398 | DNAH11 | c.566A>G (p.Glu189Gly) | |
| 7 | g.21558872A>T | CA366932399 | DNAH11 | c.566A>T (p.Glu189Val) | |
| 7 | g.21558873A= | CA1693539266 | DNAH11 | c.567A= (p.Glu189=) | |
| 7 | g.21558873A>C | CA4178714 | DNAH11 | c.567A>C (p.Glu189Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558873A>G | CA453962324 | DNAH11 | c.567A>G (p.Glu189=) | |
| 7 | g.21558873A>T | CA366932400 | DNAH11 | c.567A>T (p.Glu189Asp) | |
| 7 | g.21558874T>A | CA366932401 | DNAH11 | c.568T>A (p.Tyr190Asn) | |
| 7 | g.21558874T>C | CA366932402 | DNAH11 | c.568T>C (p.Tyr190His) | |
| 7 | g.21558874T>G | CA366932403 | DNAH11 | c.568T>G (p.Tyr190Asp) | |
| 7 | g.21558875A= | CA1693539273 | DNAH11 | c.569A= (p.Tyr190=) | |
| 7 | g.21558875A>C | CA366932404 | DNAH11 | c.569A>C (p.Tyr190Ser) | |
| 7 | g.21558875A>G | CA366932405 | DNAH11 | c.569A>G (p.Tyr190Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21558875A>T | CA4178715 | DNAH11 | c.569A>T (p.Tyr190Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558875_21558876delinsAT | CA1693539272 | DNAH11 | c.569_570delinsAT (p.Tyr190=) | |
| 7 | g.21558876del | CA155074405 | DNAH11 | c.570del (p.His191ThrfsTer2) | dbSNP |
| 7 | g.21558876T>A | CA366932406 | DNAH11 | c.570T>A (p.Tyr190Ter) | |
| 7 | g.21558876T>C | CA453962325 | DNAH11 | c.570T>C (p.Tyr190=) | ClinVar |
| 7 | g.21558876T>G | CA366932407 | DNAH11 | c.570T>G (p.Tyr190Ter) | |
| 7 | g.21558877C>A | CA366932409 | DNAH11 | c.571C>A (p.His191Asn) | gnomAD v4 |
| 7 | g.21558877C= | CA1693539282 | DNAH11 | c.571C= (p.His191=) | |
| 7 | g.21558877C>G | CA366932408 | DNAH11 | c.571C>G (p.His191Asp) | |
| 7 | g.21558877C>T | CA4178716 | DNAH11 | c.571C>T (p.His191Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.21558878A>C | CA366932410 | DNAH11 | c.572A>C (p.His191Pro) | |
| 7 | g.21558878A>G | CA366932411 | DNAH11 | c.572A>G (p.His191Arg) | gnomAD v4 |
| 7 | g.21558878A>T | CA366932412 | DNAH11 | c.572A>T (p.His191Leu) | |
| 7 | g.21558879C>A | CA366932413 | DNAH11 | c.573C>A (p.His191Gln) | |
| 7 | g.21558879C= | CA1693539290 | DNAH11 | c.573C= (p.His191=) | |
| 7 | g.21558879C>G | CA366932414 | DNAH11 | c.573C>G (p.His191Gln) | |
| 7 | g.21558879C>T | CA453962328 | DNAH11 | c.573C>T (p.His191=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21558880A= | CA1693539293 | DNAH11 | c.574A= (p.Ile192=) | |
| 7 | g.21558880A>C | CA366932415 | DNAH11 | c.574A>C (p.Ile192Leu) | |
| 7 | g.21558880A>G | CA4178717 | DNAH11 | c.574A>G (p.Ile192Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558880A>T | CA366932416 | DNAH11 | c.574A>T (p.Ile192Leu) | gnomAD v4 |
| 7 | g.21558881T>A | CA366932417 | DNAH11 | c.575T>A (p.Ile192Lys) | ClinVar |
| 7 | g.21558881T>C | CA366932418 | DNAH11 | c.575T>C (p.Ile192Thr) | COSMIC COSMIC |
| 7 | g.21558881T>G | CA366932419 | DNAH11 | c.575T>G (p.Ile192Arg) | |
| 7 | g.21558882A= | CA1693539298 | DNAH11 | c.576A= (p.Ile192=) | |
| 7 | g.21558882A>C | CA453962331 | DNAH11 | c.576A>C (p.Ile192=) | COSMIC COSMIC |
| 7 | g.21558882A>G | CA175700 | DNAH11 | c.576A>G (p.Ile192Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558882A>T | CA453962330 | DNAH11 | c.576A>T (p.Ile192=) | |
| 7 | g.21558883G>A | CA366932422 | DNAH11 | c.577G>A (p.Glu193Lys) | dbSNP |
| 7 | g.21558883G>C | CA366932421 | DNAH11 | c.577G>C (p.Glu193Gln) | |
| 7 | g.21558883G= | CA1693539304 | DNAH11 | c.577G= (p.Glu193=) | |
| 7 | g.21558883G>T | CA366932420 | DNAH11 | c.577G>T (p.Glu193Ter) | |
| 7 | g.21558884A= | CA1693539309 | DNAH11 | c.578A= (p.Glu193=) | |
| 7 | g.21558884A>C | CA366932423 | DNAH11 | c.578A>C (p.Glu193Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21558884A>G | CA366932425 | DNAH11 | c.578A>G (p.Glu193Gly) | |
| 7 | g.21558884A>T | CA366932424 | DNAH11 | c.578A>T (p.Glu193Val) | |
| 7 | g.21558885A= | CA1693539314 | DNAH11 | c.579A= (p.Glu193=) | |
| 7 | g.21558885A>C | CA366932426 | DNAH11 | c.579A>C (p.Glu193Asp) | |
| 7 | g.21558885A>G | CA4178718 | DNAH11 | c.579A>G (p.Glu193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21558885A>T | CA366932427 | DNAH11 | c.579A>T (p.Glu193Asp) | |
| 7 | g.21558886G>A | CA366932428 | DNAH11 | c.580G>A (p.Val194Ile) | |
| 7 | g.21558886G>C | CA366932429 | DNAH11 | c.580G>C (p.Val194Leu) | |
| 7 | g.21558886G>T | CA366932430 | DNAH11 | c.580G>T (p.Val194Phe) | |
| 7 | g.21558887T>A | CA366932431 | DNAH11 | c.581T>A (p.Val194Asp) | |
| 7 | g.21558887T>C | CA366932432 | DNAH11 | c.581T>C (p.Val194Ala) | |
| 7 | g.21558887T>G | CA366932433 | DNAH11 | c.581T>G (p.Val194Gly) |