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 |
|---|---|---|---|---|---|
| 11 | g.103125207_103125208del | CA601235017 | DYNC2H1 | c.1769_1770del (p.Ser590CysfsTer28) c.1151_1152del (p.Ser384CysfsTer28) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125208T>A | CA476608163 | DYNC2H1 | c.1770T>A (p.Ser590=) c.1152T>A (p.Ser384=) | |
| 11 | g.103125208T>C | CA476608164 | DYNC2H1 | c.1770T>C (p.Ser590=) c.1152T>C (p.Ser384=) | ClinVar gnomAD v4 |
| 11 | g.103125208T>G | CA476608166 | DYNC2H1 | c.1770T>G (p.Ser590=) c.1152T>G (p.Ser384=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125208T= | CA1996392148 | DYNC2H1 | c.1770T= (p.Ser590=) c.1152T= (p.Ser384=) | |
| 11 | g.103125209G>A | CA382255096 | DYNC2H1 | c.1771G>A (p.Ala591Thr) c.1153G>A (p.Ala385Thr) | |
| 11 | g.103125209G>C | CA382255097 | DYNC2H1 | c.1771G>C (p.Ala591Pro) c.1153G>C (p.Ala385Pro) | |
| 11 | g.103125209G>T | CA382255098 | DYNC2H1 | c.1771G>T (p.Ala591Ser) c.1153G>T (p.Ala385Ser) | |
| 11 | g.103125210C>A | CA382255100 | DYNC2H1 | c.1772C>A (p.Ala591Glu) c.1154C>A (p.Ala385Glu) | |
| 11 | g.103125210C= | CA1996392149 | DYNC2H1 | c.1772C= (p.Ala591=) c.1154C= (p.Ala385=) | |
| 11 | g.103125210C>G | CA382255101 | DYNC2H1 | c.1772C>G (p.Ala591Gly) c.1154C>G (p.Ala385Gly) | |
| 11 | g.103125210C>T | CA382255099 | DYNC2H1 | c.1772C>T (p.Ala591Val) c.1154C>T (p.Ala385Val) | dbSNP gnomAD v4 |
| 11 | g.103125211A= | CA1996392150 | DYNC2H1 | c.1773A= (p.Ala591=) c.1155A= (p.Ala385=) | |
| 11 | g.103125211A>C | CA476608173 | DYNC2H1 | c.1773A>C (p.Ala591=) c.1155A>C (p.Ala385=) | gnomAD v4 |
| 11 | g.103125211A>G | CA6252875 | DYNC2H1 | c.1773A>G (p.Ala591=) c.1155A>G (p.Ala385=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125211A>T | CA476608174 | DYNC2H1 | c.1773A>T (p.Ala591=) c.1155A>T (p.Ala385=) | gnomAD v4 |
| 11 | g.103125212C>A | CA382255102 | DYNC2H1 | c.1774C>A (p.Leu592Ile) c.1156C>A (p.Leu386Ile) | |
| 11 | g.103125212C= | CA1996392151 | DYNC2H1 | c.1774C= (p.Leu592=) c.1156C= (p.Leu386=) | |
| 11 | g.103125212C>G | CA382255103 | DYNC2H1 | c.1774C>G (p.Leu592Val) c.1156C>G (p.Leu386Val) | gnomAD v4 |
| 11 | g.103125212C>T | CA335913 | DYNC2H1 | c.1774C>T (p.Leu592Phe) c.1156C>T (p.Leu386Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125213T>A | CA382255106 | DYNC2H1 | c.1775T>A (p.Leu592His) c.1157T>A (p.Leu386His) | gnomAD v4 |
| 11 | g.103125213T>C | CA382255105 | DYNC2H1 | c.1775T>C (p.Leu592Pro) c.1157T>C (p.Leu386Pro) | |
| 11 | g.103125213T>G | CA382255104 | DYNC2H1 | c.1775T>G (p.Leu592Arg) c.1157T>G (p.Leu386Arg) | |
| 11 | g.103125214T>A | CA476608181 | DYNC2H1 | c.1776T>A (p.Leu592=) c.1158T>A (p.Leu386=) | |
| 11 | g.103125214T>C | CA476608183 | DYNC2H1 | c.1776T>C (p.Leu592=) c.1158T>C (p.Leu386=) | |
| 11 | g.103125214T>G | CA476608182 | DYNC2H1 | c.1776T>G (p.Leu592=) c.1158T>G (p.Leu386=) | |
| 11 | g.103125215G>A | CA382255107 | DYNC2H1 | c.1777G>A (p.Gly593Ser) c.1159G>A (p.Gly387Ser) | |
| 11 | g.103125215G>C | CA382255108 | DYNC2H1 | c.1777G>C (p.Gly593Arg) c.1159G>C (p.Gly387Arg) | |
| 11 | g.103125215G>T | CA382255109 | DYNC2H1 | c.1777G>T (p.Gly593Cys) c.1159G>T (p.Gly387Cys) | |
| 11 | g.103125216G>A | CA6252876 | DYNC2H1 | c.1778G>A (p.Gly593Asp) c.1160G>A (p.Gly387Asp) | dbSNP ExAC gnomAD v2 |
| 11 | g.103125216G>C | CA382255110 | DYNC2H1 | c.1778G>C (p.Gly593Ala) c.1160G>C (p.Gly387Ala) | |
| 11 | g.103125216G= | CA1996392152 | DYNC2H1 | c.1778G= (p.Gly593=) c.1160G= (p.Gly387=) | |
| 11 | g.103125216G>T | CA382255111 | DYNC2H1 | c.1778G>T (p.Gly593Val) c.1160G>T (p.Gly387Val) | |
| 11 | g.103125217C>A | CA476608186 | DYNC2H1 | c.1779C>A (p.Gly593=) c.1161C>A (p.Gly387=) | |
| 11 | g.103125217C>G | CA476608188 | DYNC2H1 | c.1779C>G (p.Gly593=) c.1161C>G (p.Gly387=) | |
| 11 | g.103125217C>T | CA476608189 | DYNC2H1 | c.1779C>T (p.Gly593=) c.1161C>T (p.Gly387=) | |
| 11 | g.103125218T>A | CA382255112 | DYNC2H1 | c.1780T>A (p.Phe594Ile) c.1162T>A (p.Phe388Ile) | |
| 11 | g.103125218T>C | CA382255114 | DYNC2H1 | c.1780T>C (p.Phe594Leu) c.1162T>C (p.Phe388Leu) | |
| 11 | g.103125218T>G | CA382255113 | DYNC2H1 | c.1780T>G (p.Phe594Val) c.1162T>G (p.Phe388Val) | gnomAD v4 |
| 11 | g.103125219T>A | CA382255115 | DYNC2H1 | c.1781T>A (p.Phe594Tyr) c.1163T>A (p.Phe388Tyr) | |
| 11 | g.103125219T>C | CA382255116 | DYNC2H1 | c.1781T>C (p.Phe594Ser) c.1163T>C (p.Phe388Ser) | |
| 11 | g.103125219T>G | CA382255117 | DYNC2H1 | c.1781T>G (p.Phe594Cys) c.1163T>G (p.Phe388Cys) | |
| 11 | g.103125220T>A | CA382255118 | DYNC2H1 | c.1782T>A (p.Phe594Leu) c.1164T>A (p.Phe388Leu) | |
| 11 | g.103125220T>C | CA476608196 | DYNC2H1 | c.1782T>C (p.Phe594=) c.1164T>C (p.Phe388=) | |
| 11 | g.103125220T>G | CA382255119 | DYNC2H1 | c.1782T>G (p.Phe594Leu) c.1164T>G (p.Phe388Leu) | |
| 11 | g.103125221G>A | CA382255120 | DYNC2H1 | c.1783G>A (p.Val595Ile) c.1165G>A (p.Val389Ile) | |
| 11 | g.103125221G>C | CA382255121 | DYNC2H1 | c.1783G>C (p.Val595Leu) c.1165G>C (p.Val389Leu) | |
| 11 | g.103125221G= | CA1996392153 | DYNC2H1 | c.1783G= (p.Val595=) c.1165G= (p.Val389=) | |
| 11 | g.103125221G>T | CA6252877 | DYNC2H1 | c.1783G>T (p.Val595Phe) c.1165G>T (p.Val389Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125222T>A | CA382255122 | DYNC2H1 | c.1784T>A (p.Val595Asp) c.1166T>A (p.Val389Asp) | |
| 11 | g.103125222T>C | CA382255123 | DYNC2H1 | c.1784T>C (p.Val595Ala) c.1166T>C (p.Val389Ala) | |
| 11 | g.103125222T>G | CA382255124 | DYNC2H1 | c.1784T>G (p.Val595Gly) c.1166T>G (p.Val389Gly) | |
| 11 | g.103125223T>A | CA476608202 | DYNC2H1 | c.1785T>A (p.Val595=) c.1167T>A (p.Val389=) | |
| 11 | g.103125223T>C | CA476608204 | DYNC2H1 | c.1785T>C (p.Val595=) c.1167T>C (p.Val389=) | |
| 11 | g.103125223T>G | CA476608208 | DYNC2H1 | c.1785T>G (p.Val595=) c.1167T>G (p.Val389=) | |
| 11 | g.103125224A>C | CA382255126 | DYNC2H1 | c.1786A>C (p.Ile596Leu) c.1168A>C (p.Ile390Leu) | |
| 11 | g.103125224A>G | CA382255127 | DYNC2H1 | c.1786A>G (p.Ile596Val) c.1168A>G (p.Ile390Val) | |
| 11 | g.103125224A>T | CA382255125 | DYNC2H1 | c.1786A>T (p.Ile596Phe) c.1168A>T (p.Ile390Phe) | gnomAD v4 |
| 11 | g.103125225T>A | CA382255130 | DYNC2H1 | c.1787T>A (p.Ile596Asn) c.1169T>A (p.Ile390Asn) | |
| 11 | g.103125225T>C | CA382255128 | DYNC2H1 | c.1787T>C (p.Ile596Thr) c.1169T>C (p.Ile390Thr) | |
| 11 | g.103125225T>G | CA382255129 | DYNC2H1 | c.1787T>G (p.Ile596Ser) c.1169T>G (p.Ile390Ser) | |
| 11 | g.103125226T>A | CA476608215 | DYNC2H1 | c.1788T>A (p.Ile596=) c.1170T>A (p.Ile390=) | |
| 11 | g.103125226T>C | CA476608218 | DYNC2H1 | c.1788T>C (p.Ile596=) c.1170T>C (p.Ile390=) | dbSNP gnomAD v2 |
| 11 | g.103125226T>G | CA382255131 | DYNC2H1 | c.1788T>G (p.Ile596Met) c.1170T>G (p.Ile390Met) | |
| 11 | g.103125226T= | CA1996392154 | DYNC2H1 | c.1788T= (p.Ile596=) c.1170T= (p.Ile390=) | |
| 11 | g.103125227C>A | CA382255132 | DYNC2H1 | c.1789C>A (p.Pro597Thr) c.1171C>A (p.Pro391Thr) | |
| 11 | g.103125227C>G | CA382255133 | DYNC2H1 | c.1789C>G (p.Pro597Ala) c.1171C>G (p.Pro391Ala) | |
| 11 | g.103125227C>T | CA382255134 | DYNC2H1 | c.1789C>T (p.Pro597Ser) c.1171C>T (p.Pro391Ser) | |
| 11 | g.103125228C>A | CA382255135 | DYNC2H1 | c.1790C>A (p.Pro597His) c.1172C>A (p.Pro391His) | |
| 11 | g.103125228C>G | CA382255136 | DYNC2H1 | c.1790C>G (p.Pro597Arg) c.1172C>G (p.Pro391Arg) | |
| 11 | g.103125228C>T | CA382255137 | DYNC2H1 | c.1790C>T (p.Pro597Leu) c.1172C>T (p.Pro391Leu) | |
| 11 | g.103125229T>A | CA476608222 | DYNC2H1 | c.1791T>A (p.Pro597=) c.1173T>A (p.Pro391=) | |
| 11 | g.103125229T>C | CA476608226 | DYNC2H1 | c.1791T>C (p.Pro597=) c.1173T>C (p.Pro391=) | |
| 11 | g.103125229T>G | CA476608223 | DYNC2H1 | c.1791T>G (p.Pro597=) c.1173T>G (p.Pro391=) | |
| 11 | g.103125230G>A | CA382255138 | DYNC2H1 | c.1792G>A (p.Ala598Thr) c.1174G>A (p.Ala392Thr) | |
| 11 | g.103125230G>C | CA382255139 | DYNC2H1 | c.1792G>C (p.Ala598Pro) c.1174G>C (p.Ala392Pro) | |
| 11 | g.103125230G>T | CA382255140 | DYNC2H1 | c.1792G>T (p.Ala598Ser) c.1174G>T (p.Ala392Ser) | |
| 11 | g.103125231C>A | CA382255143 | DYNC2H1 | c.1793C>A (p.Ala598Asp) c.1175C>A (p.Ala392Asp) | |
| 11 | g.103125231C= | CA1996392155 | DYNC2H1 | c.1793C= (p.Ala598=) c.1175C= (p.Ala392=) | |
| 11 | g.103125231C>G | CA382255141 | DYNC2H1 | c.1793C>G (p.Ala598Gly) c.1175C>G (p.Ala392Gly) | |
| 11 | g.103125231C>T | CA382255142 | DYNC2H1 | c.1793C>T (p.Ala598Val) c.1175C>T (p.Ala392Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125232C>A | CA6252878 | DYNC2H1 | c.1794C>A (p.Ala598=) c.1176C>A (p.Ala392=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125232C= | CA1996392156 | DYNC2H1 | c.1794C= (p.Ala598=) c.1176C= (p.Ala392=) | |
| 11 | g.103125232C>G | CA476608233 | DYNC2H1 | c.1794C>G (p.Ala598=) c.1176C>G (p.Ala392=) | |
| 11 | g.103125232C>T | CA476608232 | DYNC2H1 | c.1794C>T (p.Ala598=) c.1176C>T (p.Ala392=) | dbSNP gnomAD v4 |
| 11 | g.103125233A>C | CA382255144 | DYNC2H1 | c.1795A>C (p.Lys599Gln) c.1177A>C (p.Lys393Gln) | |
| 11 | g.103125233A>G | CA382255145 | DYNC2H1 | c.1795A>G (p.Lys599Glu) c.1177A>G (p.Lys393Glu) | |
| 11 | g.103125233A>T | CA382255146 | DYNC2H1 | c.1795A>T (p.Lys599Ter) c.1177A>T (p.Lys393Ter) | |
| 11 | g.103125236dup | CA670954084 | DYNC2H1 | c.1798dup (p.Ile600AsnfsTer19) c.1180dup (p.Ile394AsnfsTer19) | dbSNP gnomAD v4 |
| 11 | g.103125234A>C | CA382255147 | DYNC2H1 | c.1796A>C (p.Lys599Thr) c.1178A>C (p.Lys393Thr) | |
| 11 | g.103125234A>G | CA382255148 | DYNC2H1 | c.1796A>G (p.Lys599Arg) c.1178A>G (p.Lys393Arg) | |
| 11 | g.103125234A>T | CA382255149 | DYNC2H1 | c.1796A>T (p.Lys599Ile) c.1178A>T (p.Lys393Ile) | |
| 11 | g.103125235A>C | CA382255150 | DYNC2H1 | c.1797A>C (p.Lys599Asn) c.1179A>C (p.Lys393Asn) | |
| 11 | g.103125235A>G | CA476608239 | DYNC2H1 | c.1797A>G (p.Lys599=) c.1179A>G (p.Lys393=) | |
| 11 | g.103125235A>T | CA382255151 | DYNC2H1 | c.1797A>T (p.Lys599Asn) c.1179A>T (p.Lys393Asn) | |
| 11 | g.103125236A>C | CA382255152 | DYNC2H1 | c.1798A>C (p.Ile600Leu) c.1180A>C (p.Ile394Leu) | |
| 11 | g.103125236A>G | CA382255153 | DYNC2H1 | c.1798A>G (p.Ile600Val) c.1180A>G (p.Ile394Val) | |
| 11 | g.103125236A>T | CA382255154 | DYNC2H1 | c.1798A>T (p.Ile600Leu) c.1180A>T (p.Ile394Leu) | |
| 11 | g.103125237T>A | CA382255156 | DYNC2H1 | c.1799T>A (p.Ile600Lys) c.1181T>A (p.Ile394Lys) | |
| 11 | g.103125237T>C | CA382255157 | DYNC2H1 | c.1799T>C (p.Ile600Thr) c.1181T>C (p.Ile394Thr) | gnomAD v4 |
| 11 | g.103125237T>G | CA382255155 | DYNC2H1 | c.1799T>G (p.Ile600Arg) c.1181T>G (p.Ile394Arg) | |
| 11 | g.103125238A>C | CA476608242 | DYNC2H1 | c.1800A>C (p.Ile600=) c.1182A>C (p.Ile394=) | |
| 11 | g.103125238A>G | CA382255158 | DYNC2H1 | c.1800A>G (p.Ile600Met) c.1182A>G (p.Ile394Met) | |
| 11 | g.103125238A>T | CA476608243 | DYNC2H1 | c.1800A>T (p.Ile600=) c.1182A>T (p.Ile394=) | dbSNP |
| 11 | g.103125239C>A | CA382255159 | DYNC2H1 | c.1801C>A (p.Gln601Lys) c.1183C>A (p.Gln395Lys) | |
| 11 | g.103125239C>G | CA382255160 | DYNC2H1 | c.1801C>G (p.Gln601Glu) c.1183C>G (p.Gln395Glu) | |
| 11 | g.103125239C>T | CA382255161 | DYNC2H1 | c.1801C>T (p.Gln601Ter) c.1183C>T (p.Gln395Ter) | |
| 11 | g.103125240A>C | CA382255162 | DYNC2H1 | c.1802A>C (p.Gln601Pro) c.1184A>C (p.Gln395Pro) | |
| 11 | g.103125240A>G | CA382255163 | DYNC2H1 | c.1802A>G (p.Gln601Arg) c.1184A>G (p.Gln395Arg) | |
| 11 | g.103125240A>T | CA382255164 | DYNC2H1 | c.1802A>T (p.Gln601Leu) c.1184A>T (p.Gln395Leu) | |
| 11 | g.103125241G>A | CA476608246 | DYNC2H1 | c.1803G>A (p.Gln601=) c.1185G>A (p.Gln395=) | |
| 11 | g.103125241G>C | CA382255165 | DYNC2H1 | c.1803G>C (p.Gln601His) c.1185G>C (p.Gln395His) | |
| 11 | g.103125241G>T | CA382255166 | DYNC2H1 | c.1803G>T (p.Gln601His) c.1185G>T (p.Gln395His) | gnomAD v4 |
| 11 | g.103125242C>A | CA382255167 | DYNC2H1 | c.1804C>A (p.Gln602Lys) c.1186C>A (p.Gln396Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125242C= | CA1996392157 | DYNC2H1 | c.1804C= (p.Gln602=) c.1186C= (p.Gln396=) | |
| 11 | g.103125242C>G | CA382255168 | DYNC2H1 | c.1804C>G (p.Gln602Glu) c.1186C>G (p.Gln396Glu) | |
| 11 | g.103125242C>T | CA382255169 | DYNC2H1 | c.1804C>T (p.Gln602Ter) c.1186C>T (p.Gln396Ter) | dbSNP gnomAD v4 |
| 11 | g.103125243A>C | CA382255171 | DYNC2H1 | c.1805A>C (p.Gln602Pro) c.1187A>C (p.Gln396Pro) | |
| 11 | g.103125243A>G | CA382255172 | DYNC2H1 | c.1805A>G (p.Gln602Arg) c.1187A>G (p.Gln396Arg) | |
| 11 | g.103125243A>T | CA382255170 | DYNC2H1 | c.1805A>T (p.Gln602Leu) c.1187A>T (p.Gln396Leu) | |
| 11 | g.103125244A>C | CA382255173 | DYNC2H1 | c.1806A>C (p.Gln602His) c.1188A>C (p.Gln396His) | |
| 11 | g.103125244A>G | CA476608257 | DYNC2H1 | c.1806A>G (p.Gln602=) c.1188A>G (p.Gln396=) | |
| 11 | g.103125244A>T | CA382255174 | DYNC2H1 | c.1806A>T (p.Gln602His) c.1188A>T (p.Gln396His) | |
| 11 | g.103125245G>A | CA382255175 | DYNC2H1 | c.1807G>A (p.Val603Ile) c.1189G>A (p.Val397Ile) | |
| 11 | g.103125245G>C | CA382255176 | DYNC2H1 | c.1807G>C (p.Val603Leu) c.1189G>C (p.Val397Leu) | |
| 11 | g.103125245G>T | CA382255177 | DYNC2H1 | c.1807G>T (p.Val603Phe) c.1189G>T (p.Val397Phe) | |
| 11 | g.103125246T>A | CA382255180 | DYNC2H1 | c.1808T>A (p.Val603Asp) c.1190T>A (p.Val397Asp) | |
| 11 | g.103125246T>C | CA382255179 | DYNC2H1 | c.1808T>C (p.Val603Ala) c.1190T>C (p.Val397Ala) | COSMIC |
| 11 | g.103125246T>G | CA382255178 | DYNC2H1 | c.1808T>G (p.Val603Gly) c.1190T>G (p.Val397Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103125246T= | CA1996392158 | DYNC2H1 | c.1808T= (p.Val603=) c.1190T= (p.Val397=) | |
| 11 | g.103125247T>A | CA476608260 | DYNC2H1 | c.1809T>A (p.Val603=) c.1191T>A (p.Val397=) | |
| 11 | g.103125247T>C | CA476608261 | DYNC2H1 | c.1809T>C (p.Val603=) c.1191T>C (p.Val397=) | |
| 11 | g.103125247T>G | CA476608262 | DYNC2H1 | c.1809T>G (p.Val603=) c.1191T>G (p.Val397=) | |
| 11 | g.103125248G>A | CA382255181 | DYNC2H1 | c.1810G>A (p.Ala604Thr) c.1192G>A (p.Ala398Thr) | |
| 11 | g.103125248G>C | CA382255182 | DYNC2H1 | c.1810G>C (p.Ala604Pro) c.1192G>C (p.Ala398Pro) | |
| 11 | g.103125248G>T | CA382255183 | DYNC2H1 | c.1810G>T (p.Ala604Ser) c.1192G>T (p.Ala398Ser) | |
| 11 | g.103125249C>A | CA382255184 | DYNC2H1 | c.1811C>A (p.Ala604Glu) c.1193C>A (p.Ala398Glu) | |
| 11 | g.103125249C>G | CA382255185 | DYNC2H1 | c.1811C>G (p.Ala604Gly) c.1193C>G (p.Ala398Gly) | |
| 11 | g.103125249C>T | CA382255186 | DYNC2H1 | c.1811C>T (p.Ala604Val) c.1193C>T (p.Ala398Val) | |
| 11 | g.103125250A>C | CA476608264 | DYNC2H1 | c.1812A>C (p.Ala604=) c.1194A>C (p.Ala398=) | |
| 11 | g.103125250A>G | CA476608267 | DYNC2H1 | c.1812A>G (p.Ala604=) c.1194A>G (p.Ala398=) | |
| 11 | g.103125250A>T | CA476608265 | DYNC2H1 | c.1812A>T (p.Ala604=) c.1194A>T (p.Ala398=) | |
| 11 | g.103125251A>C | CA382255189 | DYNC2H1 | c.1813A>C (p.Asn605His) c.1195A>C (p.Asn399His) | |
| 11 | g.103125251A>G | CA382255188 | DYNC2H1 | c.1813A>G (p.Asn605Asp) c.1195A>G (p.Asn399Asp) | |
| 11 | g.103125251A>T | CA382255187 | DYNC2H1 | c.1813A>T (p.Asn605Tyr) c.1195A>T (p.Asn399Tyr) | |
| 11 | g.103125252A>C | CA382255190 | DYNC2H1 | c.1814A>C (p.Asn605Thr) c.1196A>C (p.Asn399Thr) | |
| 11 | g.103125252A>G | CA382255192 | DYNC2H1 | c.1814A>G (p.Asn605Ser) c.1196A>G (p.Asn399Ser) | |
| 11 | g.103125252A>T | CA382255191 | DYNC2H1 | c.1814A>T (p.Asn605Ile) c.1196A>T (p.Asn399Ile) | |
| 11 | g.103125253C>A | CA382255193 | DYNC2H1 | c.1815C>A (p.Asn605Lys) c.1197C>A (p.Asn399Lys) | |
| 11 | g.103125253C= | CA1996392159 | DYNC2H1 | c.1815C= (p.Asn605=) c.1197C= (p.Asn399=) | |
| 11 | g.103125253C>G | CA382255194 | DYNC2H1 | c.1815C>G (p.Asn605Lys) c.1197C>G (p.Asn399Lys) | |
| 11 | g.103125253C>T | CA6252879 | DYNC2H1 | c.1815C>T (p.Asn605=) c.1197C>T (p.Asn399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125254A= | CA1996392160 | DYNC2H1 | c.1816A= (p.Ile606=) c.1198A= (p.Ile400=) | |
| 11 | g.103125254A>C | CA382255195 | DYNC2H1 | c.1816A>C (p.Ile606Leu) c.1198A>C (p.Ile400Leu) | |
| 11 | g.103125254A>G | CA382255197 | DYNC2H1 | c.1816A>G (p.Ile606Val) c.1198A>G (p.Ile400Val) | dbSNP gnomAD v4 |
| 11 | g.103125254A>T | CA382255196 | DYNC2H1 | c.1816A>T (p.Ile606Phe) c.1198A>T (p.Ile400Phe) | |
| 11 | g.103125255T>A | CA382255198 | DYNC2H1 | c.1817T>A (p.Ile606Asn) c.1199T>A (p.Ile400Asn) | |
| 11 | g.103125255T>C | CA382255199 | DYNC2H1 | c.1817T>C (p.Ile606Thr) c.1199T>C (p.Ile400Thr) | gnomAD v4 |
| 11 | g.103125255T>G | CA382255200 | DYNC2H1 | c.1817T>G (p.Ile606Ser) c.1199T>G (p.Ile400Ser) | gnomAD v4 |
| 11 | g.103125256T>A | CA476608276 | DYNC2H1 | c.1818T>A (p.Ile606=) c.1200T>A (p.Ile400=) | |
| 11 | g.103125256T>C | CA476608278 | DYNC2H1 | c.1818T>C (p.Ile606=) c.1200T>C (p.Ile400=) | gnomAD v4 |
| 11 | g.103125256T>G | CA382255201 | DYNC2H1 | c.1818T>G (p.Ile606Met) c.1200T>G (p.Ile400Met) | |
| 11 | g.103125257G>A | CA382255202 | DYNC2H1 | c.1819G>A (p.Ala607Thr) c.1201G>A (p.Ala401Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125257G>C | CA382255203 | DYNC2H1 | c.1819G>C (p.Ala607Pro) c.1201G>C (p.Ala401Pro) | |
| 11 | g.103125257G= | CA1996392161 | DYNC2H1 | c.1819G= (p.Ala607=) c.1201G= (p.Ala401=) | |
| 11 | g.103125257G>T | CA382255204 | DYNC2H1 | c.1819G>T (p.Ala607Ser) c.1201G>T (p.Ala401Ser) | COSMIC |
| 11 | g.103125258C>A | CA382255205 | DYNC2H1 | c.1820C>A (p.Ala607Glu) c.1202C>A (p.Ala401Glu) | |
| 11 | g.103125258C>G | CA382255206 | DYNC2H1 | c.1820C>G (p.Ala607Gly) c.1202C>G (p.Ala401Gly) | |
| 11 | g.103125258C>T | CA382255207 | DYNC2H1 | c.1820C>T (p.Ala607Val) c.1202C>T (p.Ala401Val) | |
| 11 | g.103125259A>C | CA476608286 | DYNC2H1 | c.1821A>C (p.Ala607=) c.1203A>C (p.Ala401=) | gnomAD v4 |
| 11 | g.103125259A>G | CA476608287 | DYNC2H1 | c.1821A>G (p.Ala607=) c.1203A>G (p.Ala401=) | |
| 11 | g.103125259A>T | CA476608289 | DYNC2H1 | c.1821A>T (p.Ala607=) c.1203A>T (p.Ala401=) | |
| 11 | g.103125260C>A | CA382255210 | DYNC2H1 | c.1822C>A (p.Gln608Lys) c.1204C>A (p.Gln402Lys) | |
| 11 | g.103125260C>G | CA382255209 | DYNC2H1 | c.1822C>G (p.Gln608Glu) c.1204C>G (p.Gln402Glu) | |
| 11 | g.103125260C>T | CA382255208 | DYNC2H1 | c.1822C>T (p.Gln608Ter) c.1204C>T (p.Gln402Ter) | |
| 11 | g.103125261A>C | CA382255211 | DYNC2H1 | c.1823A>C (p.Gln608Pro) c.1205A>C (p.Gln402Pro) | |
| 11 | g.103125261A>G | CA382255212 | DYNC2H1 | c.1823A>G (p.Gln608Arg) c.1205A>G (p.Gln402Arg) | |
| 11 | g.103125261A>T | CA382255213 | DYNC2H1 | c.1823A>T (p.Gln608Leu) c.1205A>T (p.Gln402Leu) | |
| 11 | g.103125262G>A | CA476608293 | DYNC2H1 | c.1824G>A (p.Gln608=) c.1206G>A (p.Gln402=) | |
| 11 | g.103125262G>C | CA382255214 | DYNC2H1 | c.1824G>C (p.Gln608His) c.1206G>C (p.Gln402His) | |
| 11 | g.103125262G>T | CA382255215 | DYNC2H1 | c.1824G>T (p.Gln608His) c.1206G>T (p.Gln402His) | |
| 11 | g.103125263A>C | CA382255216 | DYNC2H1 | c.1825A>C (p.Lys609Gln) c.1207A>C (p.Lys403Gln) | |
| 11 | g.103125263A>G | CA382255217 | DYNC2H1 | c.1825A>G (p.Lys609Glu) c.1207A>G (p.Lys403Glu) | |
| 11 | g.103125263A>T | CA382255218 | DYNC2H1 | c.1825A>T (p.Lys609Ter) c.1207A>T (p.Lys403Ter) | |
| 11 | g.103125264A>C | CA382255219 | DYNC2H1 | c.1826A>C (p.Lys609Thr) c.1208A>C (p.Lys403Thr) | |
| 11 | g.103125264A>G | CA382255220 | DYNC2H1 | c.1826A>G (p.Lys609Arg) c.1208A>G (p.Lys403Arg) | |
| 11 | g.103125264A>T | CA382255221 | DYNC2H1 | c.1826A>T (p.Lys609Ile) c.1208A>T (p.Lys403Ile) | |
| 11 | g.103125265A= | CA1996392162 | DYNC2H1 | c.1827A= (p.Lys609=) c.1209A= (p.Lys403=) | |
| 11 | g.103125265A>C | CA382255223 | DYNC2H1 | c.1827A>C (p.Lys609Asn) c.1209A>C (p.Lys403Asn) | |
| 11 | g.103125265A>G | CA476608304 | DYNC2H1 | c.1827A>G (p.Lys609=) c.1209A>G (p.Lys403=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125265A>T | CA382255222 | DYNC2H1 | c.1827A>T (p.Lys609Asn) c.1209A>T (p.Lys403Asn) | |
| 11 | g.103125266T>A | CA6252880 | DYNC2H1 | c.1828T>A (p.Phe610Ile) c.1210T>A (p.Phe404Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125266T>C | CA382255224 | DYNC2H1 | c.1828T>C (p.Phe610Leu) c.1210T>C (p.Phe404Leu) | |
| 11 | g.103125266T>G | CA382255225 | DYNC2H1 | c.1828T>G (p.Phe610Val) c.1210T>G (p.Phe404Val) | |
| 11 | g.103125266T= | CA1996392163 | DYNC2H1 | c.1828T= (p.Phe610=) c.1210T= (p.Phe404=) | |
| 11 | g.103125267T>A | CA382255226 | DYNC2H1 | c.1829T>A (p.Phe610Tyr) c.1211T>A (p.Phe404Tyr) | |
| 11 | g.103125267T>C | CA382255227 | DYNC2H1 | c.1829T>C (p.Phe610Ser) c.1211T>C (p.Phe404Ser) | |
| 11 | g.103125267T>G | CA382255228 | DYNC2H1 | c.1829T>G (p.Phe610Cys) c.1211T>G (p.Phe404Cys) | |
| 11 | g.103125268C>A | CA382255229 | DYNC2H1 | c.1830C>A (p.Phe610Leu) c.1212C>A (p.Phe404Leu) | |
| 11 | g.103125268C= | CA1996392164 | DYNC2H1 | c.1830C= (p.Phe610=) c.1212C= (p.Phe404=) | |
| 11 | g.103125268C>G | CA382255230 | DYNC2H1 | c.1830C>G (p.Phe610Leu) c.1212C>G (p.Phe404Leu) | |
| 11 | g.103125268C>T | CA476608317 | DYNC2H1 | c.1830C>T (p.Phe610=) c.1212C>T (p.Phe404=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.103125269T>A | CA382255231 | DYNC2H1 | c.1831T>A (p.Cys611Ser) c.1213T>A (p.Cys405Ser) | |
| 11 | g.103125269T>C | CA382255232 | DYNC2H1 | c.1831T>C (p.Cys611Arg) c.1213T>C (p.Cys405Arg) | |
| 11 | g.103125269T>G | CA382255233 | DYNC2H1 | c.1831T>G (p.Cys611Gly) c.1213T>G (p.Cys405Gly) | gnomAD v4 |
| 11 | g.103125270G>A | CA382255236 | DYNC2H1 | c.1832G>A (p.Cys611Tyr) c.1214G>A (p.Cys405Tyr) | |
| 11 | g.103125270G>C | CA382255235 | DYNC2H1 | c.1832G>C (p.Cys611Ser) c.1214G>C (p.Cys405Ser) | |
| 11 | g.103125270G= | CA1996392165 | DYNC2H1 | c.1832G= (p.Cys611=) c.1214G= (p.Cys405=) | |
| 11 | g.103125270G>T | CA382255234 | DYNC2H1 | c.1832G>T (p.Cys611Phe) c.1214G>T (p.Cys405Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125271C>A | CA382255237 | DYNC2H1 | c.1833C>A (p.Cys611Ter) c.1215C>A (p.Cys405Ter) | |
| 11 | g.103125271C>G | CA382255238 | DYNC2H1 | c.1833C>G (p.Cys611Trp) c.1215C>G (p.Cys405Trp) | |
| 11 | g.103125271C>T | CA476608326 | DYNC2H1 | c.1833C>T (p.Cys611=) c.1215C>T (p.Cys405=) | |
| 11 | g.103125272A>C | CA382255239 | DYNC2H1 | c.1834A>C (p.Lys612Gln) c.1216A>C (p.Lys406Gln) | |
| 11 | g.103125272A>G | CA382255240 | DYNC2H1 | c.1834A>G (p.Lys612Glu) c.1216A>G (p.Lys406Glu) | gnomAD v4 |
| 11 | g.103125272A>T | CA382255241 | DYNC2H1 | c.1834A>T (p.Lys612Ter) c.1216A>T (p.Lys406Ter) | |
| 11 | g.103125273A>C | CA382255242 | DYNC2H1 | c.1835A>C (p.Lys612Thr) c.1217A>C (p.Lys406Thr) | |
| 11 | g.103125273A>G | CA382255243 | DYNC2H1 | c.1835A>G (p.Lys612Arg) c.1217A>G (p.Lys406Arg) | COSMIC |
| 11 | g.103125273A>T | CA382255244 | DYNC2H1 | c.1835A>T (p.Lys612Met) c.1217A>T (p.Lys406Met) | |
| 11 | g.103125274G>A | CA476608331 | DYNC2H1 | c.1836G>A (p.Lys612=) c.1218G>A (p.Lys406=) | gnomAD v4 |
| 11 | g.103125274G>C | CA382255245 | DYNC2H1 | c.1836G>C (p.Lys612Asn) c.1218G>C (p.Lys406Asn) | |
| 11 | g.103125274G>T | CA382255246 | DYNC2H1 | c.1836G>T (p.Lys612Asn) c.1218G>T (p.Lys406Asn) | |
| 11 | g.103125275C>A | CA382255247 | DYNC2H1 | c.1837C>A (p.Gln613Lys) c.1219C>A (p.Gln407Lys) | dbSNP |
| 11 | g.103125275C= | CA1996392166 | DYNC2H1 | c.1837C= (p.Gln613=) c.1219C= (p.Gln407=) | |
| 11 | g.103125275C>G | CA382255248 | DYNC2H1 | c.1837C>G (p.Gln613Glu) c.1219C>G (p.Gln407Glu) | |
| 11 | g.103125275C>T | CA382255249 | DYNC2H1 | c.1837C>T (p.Gln613Ter) c.1219C>T (p.Gln407Ter) | |
| 11 | g.103125276A>C | CA382255251 | DYNC2H1 | c.1838A>C (p.Gln613Pro) c.1220A>C (p.Gln407Pro) | gnomAD v4 |
| 11 | g.103125276A>G | CA382255252 | DYNC2H1 | c.1838A>G (p.Gln613Arg) c.1220A>G (p.Gln407Arg) | gnomAD v4 |
| 11 | g.103125276A>T | CA382255250 | DYNC2H1 | c.1838A>T (p.Gln613Leu) c.1220A>T (p.Gln407Leu) | |
| 11 | g.103125277A= | CA1996392167 | DYNC2H1 | c.1839A= (p.Gln613=) c.1221A= (p.Gln407=) | |
| 11 | g.103125277A>C | CA382255253 | DYNC2H1 | c.1839A>C (p.Gln613His) c.1221A>C (p.Gln407His) | |
| 11 | g.103125277A>G | CA6252881 | DYNC2H1 | c.1839A>G (p.Gln613=) c.1221A>G (p.Gln407=) | dbSNP ExAC gnomAD v2 |
| 11 | g.103125277A>T | CA382255254 | DYNC2H1 | c.1839A>T (p.Gln613His) c.1221A>T (p.Gln407His) | |
| 11 | g.103125278G>A | CA382255255 | DYNC2H1 | c.1840G>A (p.Ala614Thr) c.1222G>A (p.Ala408Thr) | |
| 11 | g.103125278G>C | CA382255256 | DYNC2H1 | c.1840G>C (p.Ala614Pro) c.1222G>C (p.Ala408Pro) | |
| 11 | g.103125278G>T | CA382255257 | DYNC2H1 | c.1840G>T (p.Ala614Ser) c.1222G>T (p.Ala408Ser) | |
| 11 | g.103125279C>A | CA6252883 | DYNC2H1 | c.1841C>A (p.Ala614Glu) c.1223C>A (p.Ala408Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125279C= | CA1996392168 | DYNC2H1 | c.1841C= (p.Ala614=) c.1223C= (p.Ala408=) | |
| 11 | g.103125279C>G | CA382255258 | DYNC2H1 | c.1841C>G (p.Ala614Gly) c.1223C>G (p.Ala408Gly) | |
| 11 | g.103125279C>T | CA6252882 | DYNC2H1 | c.1841C>T (p.Ala614Val) c.1223C>T (p.Ala408Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125280A= | CA1996392169 | DYNC2H1 | c.1842A= (p.Ala614=) c.1224A= (p.Ala408=) | |
| 11 | g.103125280A>C | CA476608346 | DYNC2H1 | c.1842A>C (p.Ala614=) c.1224A>C (p.Ala408=) | |
| 11 | g.103125280A>G | CA476608351 | DYNC2H1 | c.1842A>G (p.Ala614=) c.1224A>G (p.Ala408=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125280A>T | CA476608352 | DYNC2H1 | c.1842A>T (p.Ala614=) c.1224A>T (p.Ala408=) | |
| 11 | g.103125281A= | CA1996392171 | DYNC2H1 | c.1843A= (p.Ile615=) c.1225A= (p.Ile409=) | |
| 11 | g.103125281A>C | CA382255259 | DYNC2H1 | c.1843A>C (p.Ile615Leu) c.1225A>C (p.Ile409Leu) | |
| 11 | g.103125281A>G | CA382255260 | DYNC2H1 | c.1843A>G (p.Ile615Val) c.1225A>G (p.Ile409Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125281A>T | CA382255261 | DYNC2H1 | c.1843A>T (p.Ile615Phe) c.1225A>T (p.Ile409Phe) | |
| 11 | g.103125281_103125287delinsATTATTC | CA1996392170 | DYNC2H1 | c.1843_1849delinsATTATTC (p.Ile615=) c.1225_1231delinsATTATTC (p.Ile409=) | |
| 11 | g.103125282T>A | CA382255264 | DYNC2H1 | c.1844T>A (p.Ile615Asn) c.1226T>A (p.Ile409Asn) | |
| 11 | g.103125282T>C | CA382255263 | DYNC2H1 | c.1844T>C (p.Ile615Thr) c.1226T>C (p.Ile409Thr) | ClinVar dbSNP |
| 11 | g.103125282T>G | CA382255262 | DYNC2H1 | c.1844T>G (p.Ile615Ser) c.1226T>G (p.Ile409Ser) | |
| 11 | g.103125285_103125290del | CA6252884 | DYNC2H1 | c.1847_1852del (p.Ile616_Leu617del) c.1229_1234del (p.Ile410_Leu411del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125283T>A | CA476608357 | DYNC2H1 | c.1845T>A (p.Ile615=) c.1227T>A (p.Ile409=) | |
| 11 | g.103125283T>C | CA476608359 | DYNC2H1 | c.1845T>C (p.Ile615=) c.1227T>C (p.Ile409=) | |
| 11 | g.103125283T>G | CA382255265 | DYNC2H1 | c.1845T>G (p.Ile615Met) c.1227T>G (p.Ile409Met) | |
| 11 | g.103125284A= | CA1996392172 | DYNC2H1 | c.1846A= (p.Ile616=) c.1228A= (p.Ile410=) | |
| 11 | g.103125284A>C | CA382255266 | DYNC2H1 | c.1846A>C (p.Ile616Leu) c.1228A>C (p.Ile410Leu) | |
| 11 | g.103125284A>G | CA6252885 | DYNC2H1 | c.1846A>G (p.Ile616Val) c.1228A>G (p.Ile410Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125284A>T | CA382255267 | DYNC2H1 | c.1846A>T (p.Ile616Phe) c.1228A>T (p.Ile410Phe) | |
| 11 | g.103125285T>A | CA382255268 | DYNC2H1 | c.1847T>A (p.Ile616Asn) c.1229T>A (p.Ile410Asn) | |
| 11 | g.103125285T>C | CA6252886 | DYNC2H1 | c.1847T>C (p.Ile616Thr) c.1229T>C (p.Ile410Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125285T>G | CA382255269 | DYNC2H1 | c.1847T>G (p.Ile616Ser) c.1229T>G (p.Ile410Ser) | |
| 11 | g.103125285T= | CA1996392173 | DYNC2H1 | c.1847T= (p.Ile616=) c.1229T= (p.Ile410=) | |
| 11 | g.103125286T>A | CA476608366 | DYNC2H1 | c.1848T>A (p.Ile616=) c.1230T>A (p.Ile410=) | |
| 11 | g.103125286T>C | CA476608363 | DYNC2H1 | c.1848T>C (p.Ile616=) c.1230T>C (p.Ile410=) | |
| 11 | g.103125286T>G | CA382255270 | DYNC2H1 | c.1848T>G (p.Ile616Met) c.1230T>G (p.Ile410Met) | |
| 11 | g.103125287C>A | CA382255271 | DYNC2H1 | c.1849C>A (p.Leu617Ile) c.1231C>A (p.Leu411Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125287C= | CA1996392174 | DYNC2H1 | c.1849C= (p.Leu617=) c.1231C= (p.Leu411=) | |
| 11 | g.103125287C>G | CA382255272 | DYNC2H1 | c.1849C>G (p.Leu617Val) c.1231C>G (p.Leu411Val) | |
| 11 | g.103125287C>T | CA382255273 | DYNC2H1 | c.1849C>T (p.Leu617Phe) c.1231C>T (p.Leu411Phe) | gnomAD v4 |
| 11 | g.103125288T>A | CA382255274 | DYNC2H1 | c.1850T>A (p.Leu617His) c.1232T>A (p.Leu411His) | |
| 11 | g.103125288T>C | CA382255275 | DYNC2H1 | c.1850T>C (p.Leu617Pro) c.1232T>C (p.Leu411Pro) | |
| 11 | g.103125288T>G | CA382255276 | DYNC2H1 | c.1850T>G (p.Leu617Arg) c.1232T>G (p.Leu411Arg) | |
| 11 | g.103125289T>A | CA476608372 | DYNC2H1 | c.1851T>A (p.Leu617=) c.1233T>A (p.Leu411=) | COSMIC |
| 11 | g.103125289T>C | CA476608374 | DYNC2H1 | c.1851T>C (p.Leu617=) c.1233T>C (p.Leu411=) | gnomAD v4 |
| 11 | g.103125289T>G | CA476608375 | DYNC2H1 | c.1851T>G (p.Leu617=) c.1233T>G (p.Leu411=) | |
| 11 | g.103125290A>C | CA382255278 | DYNC2H1 | c.1852A>C (p.Lys618Gln) c.1234A>C (p.Lys412Gln) | |
| 11 | g.103125290A>G | CA382255279 | DYNC2H1 | c.1852A>G (p.Lys618Glu) c.1234A>G (p.Lys412Glu) | |
| 11 | g.103125290A>T | CA382255277 | DYNC2H1 | c.1852A>T (p.Lys618Ter) c.1234A>T (p.Lys412Ter) | |
| 11 | g.103125291A>C | CA382255280 | DYNC2H1 | c.1853A>C (p.Lys618Thr) c.1235A>C (p.Lys412Thr) | |
| 11 | g.103125291A>G | CA382255281 | DYNC2H1 | c.1853A>G (p.Lys618Arg) c.1235A>G (p.Lys412Arg) | |
| 11 | g.103125291A>T | CA382255282 | DYNC2H1 | c.1853A>T (p.Lys618Ile) c.1235A>T (p.Lys412Ile) | |
| 11 | g.103125292A>C | CA382255283 | DYNC2H1 | c.1854A>C (p.Lys618Asn) c.1236A>C (p.Lys412Asn) | |
| 11 | g.103125292A>G | CA476608377 | DYNC2H1 | c.1854A>G (p.Lys618=) c.1236A>G (p.Lys412=) | |
| 11 | g.103125292A>T | CA382255284 | DYNC2H1 | c.1854A>T (p.Lys618Asn) c.1236A>T (p.Lys412Asn) | |
| 11 | g.103125293C>A | CA382255285 | DYNC2H1 | c.1855C>A (p.Gln619Lys) c.1237C>A (p.Gln413Lys) | gnomAD v4 |
| 11 | g.103125293C= | CA1996392175 | DYNC2H1 | c.1855C= (p.Gln619=) c.1237C= (p.Gln413=) | |
| 11 | g.103125293C>G | CA382255286 | DYNC2H1 | c.1855C>G (p.Gln619Glu) c.1237C>G (p.Gln413Glu) | |
| 11 | g.103125293C>T | CA382255287 | DYNC2H1 | c.1855C>T (p.Gln619Ter) c.1237C>T (p.Gln413Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103125294A= | CA1996392176 | DYNC2H1 | c.1856A= (p.Gln619=) c.1238A= (p.Gln413=) | |
| 11 | g.103125294A>C | CA382255288 | DYNC2H1 | c.1856A>C (p.Gln619Pro) c.1238A>C (p.Gln413Pro) | |
| 11 | g.103125294A>G | CA382255289 | DYNC2H1 | c.1856A>G (p.Gln619Arg) c.1238A>G (p.Gln413Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103125294A>T | CA382255290 | DYNC2H1 | c.1856A>T (p.Gln619Leu) c.1238A>T (p.Gln413Leu) | |
| 11 | g.103125295A>C | CA382255291 | DYNC2H1 | c.1857A>C (p.Gln619His) c.1239A>C (p.Gln413His) | |
| 11 | g.103125295A>G | CA476608379 | DYNC2H1 | c.1857A>G (p.Gln619=) c.1239A>G (p.Gln413=) | |
| 11 | g.103125295A>T | CA382255292 | DYNC2H1 | c.1857A>T (p.Gln619His) c.1239A>T (p.Gln413His) | |
| 11 | g.103125296G>A | CA382255295 | DYNC2H1 | c.1857+1G>A (n.1857+1G>A) c.1239+1G>A (n.1239+1G>A) | |
| 11 | g.103125296G>C | CA382255293 | DYNC2H1 | c.1857+1G>C (n.1857+1G>C) c.1239+1G>C (n.1239+1G>C) | |
| 11 | g.103125296G>T | CA382255294 | DYNC2H1 | c.1857+1G>T (n.1857+1G>T) c.1239+1G>T (n.1239+1G>T) | gnomAD v4 |
| 11 | g.103125297T>A | CA382255296 | DYNC2H1 | c.1857+2T>A (n.1857+2T>A) c.1239+2T>A (n.1239+2T>A) | |
| 11 | g.103125297T>C | CA382255297 | DYNC2H1 | c.1857+2T>C (n.1857+2T>C) c.1239+2T>C (n.1239+2T>C) | gnomAD v4 |
| 11 | g.103125297T>G | CA382255298 | DYNC2H1 | c.1857+2T>G (n.1857+2T>G) c.1239+2T>G (n.1239+2T>G) | |
| 11 | g.103125298A= | CA1996392177 | DYNC2H1 | c.1857+3A= (n.1857+3A=) c.1239+3A= (n.1239+3A=) | |
| 11 | g.103125298A>T | CA6252887 | DYNC2H1 | c.1857+3A>T (n.1857+3A>T) c.1239+3A>T (n.1239+3A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125299T>A | CA6252889 | DYNC2H1 | c.1857+4T>A (n.1857+4T>A) c.1239+4T>A (n.1239+4T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125299T>C | CA2615740700 | DYNC2H1 | c.1857+4T>C (n.1857+4T>C) c.1239+4T>C (n.1239+4T>C) | gnomAD v4 |
| 11 | g.103125299T>G | CA6252888 | DYNC2H1 | c.1857+4T>G (n.1857+4T>G) c.1239+4T>G (n.1239+4T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103125299T= | CA1996392178 | DYNC2H1 | c.1857+4T= (n.1857+4T=) c.1239+4T= (n.1239+4T=) | |
| 11 | g.103125300G>T | CA2615740701 | DYNC2H1 | c.1857+5G>T (n.1857+5G>T) c.1239+5G>T (n.1239+5G>T) | gnomAD v4 |
| 11 | g.103125302_103125304delinsAAT | CA1996392179 | DYNC2H1 | c.1857+7_1857+9delinsAAT (n.1857+7_1857+9delinsAAT) c.1239+7_1239+9delinsAAT (n.1239+7_1239+9delinsAAT) | |
| 11 | g.103125303A= | CA1996392181 | DYNC2H1 | c.1857+8A= (n.1857+8A=) c.1239+8A= (n.1239+8A=) | |
| 11 | g.103125303A>G | CA6252890 | DYNC2H1 | c.1857+8A>G (n.1857+8A>G) c.1239+8A>G (n.1239+8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125303_103125304del | CA1996392180 | DYNC2H1 | c.1857+8_1857+9del (n.1857+8_1857+9del) c.1239+8_1239+9del (n.1239+8_1239+9del) | dbSNP |
| 11 | g.103125304T>G | CA2615740702 | DYNC2H1 | c.1857+9T>G (n.1857+9T>G) c.1239+9T>G (n.1239+9T>G) | gnomAD v4 |
| 11 | g.103125305T>G | CA2615740703 | DYNC2H1 | c.1857+10T>G (n.1857+10T>G) c.1239+10T>G (n.1239+10T>G) | gnomAD v4 |
| 11 | g.103125306A= | CA1996392182 | DYNC2H1 | c.1857+11A= (n.1857+11A=) c.1239+11A= (n.1239+11A=) | |
| 11 | g.103125306dup | CA2615740704 | DYNC2H1 | c.1857+11dup (n.1857+11dup) c.1239+11dup (n.1239+11dup) | gnomAD v4 |
| 11 | g.103125306_103125307insATG | CA1996392183 | DYNC2H1 | c.1857+11_1857+12insATG (n.1857+11_1857+12insATG) c.1239+11_1239+12insATG (n.1239+11_1239+12insATG) | dbSNP |
| 11 | g.103125307C>A | CA941655144 | DYNC2H1 | c.1857+12C>A (n.1857+12C>A) c.1239+12C>A (n.1239+12C>A) | gnomAD v3 gnomAD v4 |
| 11 | g.103125308A= | CA1996392184 | DYNC2H1 | c.1857+13A= (n.1857+13A=) c.1239+13A= (n.1239+13A=) | |
| 11 | g.103125308A>C | CA227402523 | DYNC2H1 | c.1857+13A>C (n.1857+13A>C) c.1239+13A>C (n.1239+13A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103125308A>G | CA6252891 | DYNC2H1 | c.1857+13A>G (n.1857+13A>G) c.1239+13A>G (n.1239+13A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |