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| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.103120943A>C | CA382251282 | DYNC2H1 | c.1267A>C (p.Lys423Gln) c.649A>C (p.Lys217Gln) | |
| 11 | g.103120943A>G | CA382251283 | DYNC2H1 | c.1267A>G (p.Lys423Glu) c.649A>G (p.Lys217Glu) | gnomAD v4 |
| 11 | g.103120943A>T | CA382251284 | DYNC2H1 | c.1267A>T (p.Lys423Ter) c.649A>T (p.Lys217Ter) | gnomAD v4 |
| 11 | g.103120944A= | CA1996390346 | DYNC2H1 | c.1268A= (p.Lys423=) c.650A= (p.Lys217=) | |
| 11 | g.103120944A>C | CA382251285 | DYNC2H1 | c.1268A>C (p.Lys423Thr) c.650A>C (p.Lys217Thr) | |
| 11 | g.103120944A>G | CA382251286 | DYNC2H1 | c.1268A>G (p.Lys423Arg) c.650A>G (p.Lys217Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103120944A>T | CA382251287 | DYNC2H1 | c.1268A>T (p.Lys423Ile) c.650A>T (p.Lys217Ile) | |
| 11 | g.103120945A>C | CA382251288 | DYNC2H1 | c.1269A>C (p.Lys423Asn) c.651A>C (p.Lys217Asn) | |
| 11 | g.103120945A>G | CA476738915 | DYNC2H1 | c.1269A>G (p.Lys423=) c.651A>G (p.Lys217=) | gnomAD v4 |
| 11 | g.103120945A>T | CA382251289 | DYNC2H1 | c.1269A>T (p.Lys423Asn) c.651A>T (p.Lys217Asn) | |
| 11 | g.103120948_103120949del | CA2615741054 | DYNC2H1 | c.1272_1273del (p.Tyr424Ter) c.654_655del (p.Tyr218Ter) | gnomAD v4 |
| 11 | g.103120946T>A | CA382251291 | DYNC2H1 | c.1270T>A (p.Tyr424Asn) c.652T>A (p.Tyr218Asn) | |
| 11 | g.103120946T>C | CA382251292 | DYNC2H1 | c.1270T>C (p.Tyr424His) c.652T>C (p.Tyr218His) | |
| 11 | g.103120946T>G | CA382251290 | DYNC2H1 | c.1270T>G (p.Tyr424Asp) c.652T>G (p.Tyr218Asp) | |
| 11 | g.103120947A>C | CA382251294 | DYNC2H1 | c.1271A>C (p.Tyr424Ser) c.653A>C (p.Tyr218Ser) | |
| 11 | g.103120947A>G | CA382251293 | DYNC2H1 | c.1271A>G (p.Tyr424Cys) c.653A>G (p.Tyr218Cys) | |
| 11 | g.103120947A>T | CA382251295 | DYNC2H1 | c.1271A>T (p.Tyr424Phe) c.653A>T (p.Tyr218Phe) | gnomAD v4 |
| 11 | g.103120948T>A | CA382251296 | DYNC2H1 | c.1272T>A (p.Tyr424Ter) c.654T>A (p.Tyr218Ter) | |
| 11 | g.103120948T>C | CA6252730 | DYNC2H1 | c.1272T>C (p.Tyr424=) c.654T>C (p.Tyr218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103120948T>G | CA382251297 | DYNC2H1 | c.1272T>G (p.Tyr424Ter) c.654T>G (p.Tyr218Ter) | |
| 11 | g.103120948T= | CA1996390347 | DYNC2H1 | c.1272T= (p.Tyr424=) c.654T= (p.Tyr218=) | |
| 11 | g.103120949A>C | CA382251298 | DYNC2H1 | c.1273A>C (p.Lys425Gln) c.655A>C (p.Lys219Gln) | |
| 11 | g.103120949A>G | CA382251299 | DYNC2H1 | c.1273A>G (p.Lys425Glu) c.655A>G (p.Lys219Glu) | gnomAD v4 |
| 11 | g.103120949A>T | CA382251300 | DYNC2H1 | c.1273A>T (p.Lys425Ter) c.655A>T (p.Lys219Ter) | gnomAD v4 |
| 11 | g.103120950A= | CA1996390348 | DYNC2H1 | c.1274A= (p.Lys425=) c.656A= (p.Lys219=) | |
| 11 | g.103120950A>C | CA382251302 | DYNC2H1 | c.1274A>C (p.Lys425Thr) c.656A>C (p.Lys219Thr) | |
| 11 | g.103120950A>G | CA382251301 | DYNC2H1 | c.1274A>G (p.Lys425Arg) c.656A>G (p.Lys219Arg) | gnomAD v4 |
| 11 | g.103120950A>T | CA6252731 | DYNC2H1 | c.1274A>T (p.Lys425Ile) c.656A>T (p.Lys219Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103120951A>C | CA382251303 | DYNC2H1 | c.1275A>C (p.Lys425Asn) c.657A>C (p.Lys219Asn) | |
| 11 | g.103120951A>G | CA476738927 | DYNC2H1 | c.1275A>G (p.Lys425=) c.657A>G (p.Lys219=) | gnomAD v4 |
| 11 | g.103120951A>T | CA382251304 | DYNC2H1 | c.1275A>T (p.Lys425Asn) c.657A>T (p.Lys219Asn) | |
| 11 | g.103120952G>A | CA382251305 | DYNC2H1 | c.1276G>A (p.Glu426Lys) c.658G>A (p.Glu220Lys) | gnomAD v4 |
| 11 | g.103120952G>C | CA382251306 | DYNC2H1 | c.1276G>C (p.Glu426Gln) c.658G>C (p.Glu220Gln) | |
| 11 | g.103120952G>T | CA382251307 | DYNC2H1 | c.1276G>T (p.Glu426Ter) c.658G>T (p.Glu220Ter) | gnomAD v4 |
| 11 | g.103120953A= | CA1996390349 | DYNC2H1 | c.1277A= (p.Glu426=) c.659A= (p.Glu220=) | |
| 11 | g.103120953A>C | CA382251310 | DYNC2H1 | c.1277A>C (p.Glu426Ala) c.659A>C (p.Glu220Ala) | |
| 11 | g.103120953A>G | CA382251308 | DYNC2H1 | c.1277A>G (p.Glu426Gly) c.659A>G (p.Glu220Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103120953A>T | CA382251309 | DYNC2H1 | c.1277A>T (p.Glu426Val) c.659A>T (p.Glu220Val) | dbSNP gnomAD v4 |
| 11 | g.103120954G>A | CA476738930 | DYNC2H1 | c.1278G>A (p.Glu426=) c.660G>A (p.Glu220=) | ClinVar gnomAD v4 |
| 11 | g.103120954G>C | CA382251311 | DYNC2H1 | c.1278G>C (p.Glu426Asp) c.660G>C (p.Glu220Asp) | gnomAD v4 |
| 11 | g.103120954G>T | CA382251312 | DYNC2H1 | c.1278G>T (p.Glu426Asp) c.660G>T (p.Glu220Asp) | gnomAD v4 |
| 11 | g.103120955T>A | CA382251313 | DYNC2H1 | c.1279T>A (p.Leu427Met) c.661T>A (p.Leu221Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103120955T>C | CA476738935 | DYNC2H1 | c.1279T>C (p.Leu427=) c.661T>C (p.Leu221=) | dbSNP gnomAD v4 |
| 11 | g.103120955T>G | CA382251314 | DYNC2H1 | c.1279T>G (p.Leu427Val) c.661T>G (p.Leu221Val) | |
| 11 | g.103120955T= | CA1996390350 | DYNC2H1 | c.1279T= (p.Leu427=) c.661T= (p.Leu221=) | |
| 11 | g.103120956T>A | CA382251315 | DYNC2H1 | c.1280T>A (p.Leu427Ter) c.662T>A (p.Leu221Ter) | |
| 11 | g.103120956T>C | CA382251316 | DYNC2H1 | c.1280T>C (p.Leu427Ser) c.662T>C (p.Leu221Ser) | |
| 11 | g.103120956T>G | CA382251317 | DYNC2H1 | c.1280T>G (p.Leu427Trp) c.662T>G (p.Leu221Trp) | |
| 11 | g.103120957G>A | CA476738936 | DYNC2H1 | c.1281G>A (p.Leu427=) c.663G>A (p.Leu221=) | gnomAD v4 |
| 11 | g.103120957G>C | CA382251318 | DYNC2H1 | c.1281G>C (p.Leu427Phe) c.663G>C (p.Leu221Phe) | gnomAD v4 |
| 11 | g.103120957G>T | CA382251319 | DYNC2H1 | c.1281G>T (p.Leu427Phe) c.663G>T (p.Leu221Phe) | gnomAD v4 |
| 11 | g.103120958G>A | CA382251320 | DYNC2H1 | c.1282G>A (p.Val428Ile) c.664G>A (p.Val222Ile) | gnomAD v4 |
| 11 | g.103120958G>C | CA382251321 | DYNC2H1 | c.1282G>C (p.Val428Leu) c.664G>C (p.Val222Leu) | |
| 11 | g.103120958G= | CA1996390351 | DYNC2H1 | c.1282G= (p.Val428=) c.664G= (p.Val222=) | |
| 11 | g.103120958G>T | CA382251322 | DYNC2H1 | c.1282G>T (p.Val428Leu) c.664G>T (p.Val222Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103120959T>A | CA382251323 | DYNC2H1 | c.1283T>A (p.Val428Glu) c.665T>A (p.Val222Glu) | gnomAD v4 |
| 11 | g.103120959T>C | CA382251325 | DYNC2H1 | c.1283T>C (p.Val428Ala) c.665T>C (p.Val222Ala) | gnomAD v4 |
| 11 | g.103120959T>G | CA382251324 | DYNC2H1 | c.1283T>G (p.Val428Gly) c.665T>G (p.Val222Gly) | |
| 11 | g.103120960A= | CA1996390352 | DYNC2H1 | c.1284A= (p.Val428=) c.666A= (p.Val222=) | |
| 11 | g.103120960A>C | CA476738938 | DYNC2H1 | c.1284A>C (p.Val428=) c.666A>C (p.Val222=) | |
| 11 | g.103120960A>G | CA476738939 | DYNC2H1 | c.1284A>G (p.Val428=) c.666A>G (p.Val222=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103120960A>T | CA476738940 | DYNC2H1 | c.1284A>T (p.Val428=) c.666A>T (p.Val222=) | |
| 11 | g.103120961A>C | CA382251326 | DYNC2H1 | c.1285A>C (p.Lys429Gln) c.667A>C (p.Lys223Gln) | |
| 11 | g.103120961A>G | CA382251327 | DYNC2H1 | c.1285A>G (p.Lys429Glu) c.667A>G (p.Lys223Glu) | gnomAD v4 |
| 11 | g.103120961A>T | CA382251328 | DYNC2H1 | c.1285A>T (p.Lys429Ter) c.667A>T (p.Lys223Ter) | gnomAD v4 |
| 11 | g.103120962A>C | CA382251329 | DYNC2H1 | c.1286A>C (p.Lys429Thr) c.668A>C (p.Lys223Thr) | |
| 11 | g.103120962A>G | CA382251330 | DYNC2H1 | c.1286A>G (p.Lys429Arg) c.668A>G (p.Lys223Arg) | gnomAD v4 |
| 11 | g.103120962A>T | CA382251331 | DYNC2H1 | c.1286A>T (p.Lys429Met) c.668A>T (p.Lys223Met) | |
| 11 | g.103120963G>A | CA476738942 | DYNC2H1 | c.1287G>A (p.Lys429=) c.669G>A (p.Lys223=) | gnomAD v4 |
| 11 | g.103120963G>C | CA382251332 | DYNC2H1 | c.1287G>C (p.Lys429Asn) c.669G>C (p.Lys223Asn) | |
| 11 | g.103120963G= | CA1996390353 | DYNC2H1 | c.1287G= (p.Lys429=) c.669G= (p.Lys223=) | |
| 11 | g.103120963G>T | CA382251333 | DYNC2H1 | c.1287G>T (p.Lys429Asn) c.669G>T (p.Lys223Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103120964C>A | CA382251334 | DYNC2H1 | c.1288C>A (p.Arg430Ser) c.670C>A (p.Arg224Ser) | gnomAD v4 |
| 11 | g.103120964C= | CA1996390354 | DYNC2H1 | c.1288C= (p.Arg430=) c.670C= (p.Arg224=) | |
| 11 | g.103120964C>G | CA382251335 | DYNC2H1 | c.1288C>G (p.Arg430Gly) c.670C>G (p.Arg224Gly) | |
| 11 | g.103120964C>T | CA6252732 | DYNC2H1 | c.1288C>T (p.Arg430Cys) c.670C>T (p.Arg224Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103120965G>A | CA6252733 | DYNC2H1 | c.1289G>A (p.Arg430His) c.671G>A (p.Arg224His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.103120965G>C | CA382251337 | DYNC2H1 | c.1289G>C (p.Arg430Pro) c.671G>C (p.Arg224Pro) | |
| 11 | g.103120965G= | CA1996390355 | DYNC2H1 | c.1289G= (p.Arg430=) c.671G= (p.Arg224=) | |
| 11 | g.103120965G>T | CA382251336 | DYNC2H1 | c.1289G>T (p.Arg430Leu) c.671G>T (p.Arg224Leu) | gnomAD v4 |
| 11 | g.103120966T>A | CA476738946 | DYNC2H1 | c.1290T>A (p.Arg430=) c.672T>A (p.Arg224=) | |
| 11 | g.103120966T>C | CA476738945 | DYNC2H1 | c.1290T>C (p.Arg430=) c.672T>C (p.Arg224=) | gnomAD v4 |
| 11 | g.103120966T>G | CA476738944 | DYNC2H1 | c.1290T>G (p.Arg430=) c.672T>G (p.Arg224=) | |
| 11 | g.103120967C>A | CA227401586 | DYNC2H1 | c.1291C>A (p.Pro431Thr) c.673C>A (p.Pro225Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103120967C= | CA1996390356 | DYNC2H1 | c.1291C= (p.Pro431=) c.673C= (p.Pro225=) | |
| 11 | g.103120967C>G | CA382251338 | DYNC2H1 | c.1291C>G (p.Pro431Ala) c.673C>G (p.Pro225Ala) | |
| 11 | g.103120967C>T | CA382251339 | DYNC2H1 | c.1291C>T (p.Pro431Ser) c.673C>T (p.Pro225Ser) | gnomAD v4 |
| 11 | g.103120968del | CA2615741115 | DYNC2H1 | c.1292del (p.Pro431GlnfsTer3) c.674del (p.Pro225GlnfsTer3) | gnomAD v4 |
| 11 | g.103120968C>A | CA382251340 | DYNC2H1 | c.1292C>A (p.Pro431Gln) c.674C>A (p.Pro225Gln) | |
| 11 | g.103120968C>G | CA382251341 | DYNC2H1 | c.1292C>G (p.Pro431Arg) c.674C>G (p.Pro225Arg) | |
| 11 | g.103120968C>T | CA382251342 | DYNC2H1 | c.1292C>T (p.Pro431Leu) c.674C>T (p.Pro225Leu) | gnomAD v4 |
| 11 | g.103120969A>C | CA476738948 | DYNC2H1 | c.1293A>C (p.Pro431=) c.675A>C (p.Pro225=) | |
| 11 | g.103120969A>G | CA476738950 | DYNC2H1 | c.1293A>G (p.Pro431=) c.675A>G (p.Pro225=) | gnomAD v4 |
| 11 | g.103120969A>T | CA476738949 | DYNC2H1 | c.1293A>T (p.Pro431=) c.675A>T (p.Pro225=) | |
| 11 | g.103120970A= | CA1996390357 | DYNC2H1 | c.1294A= (p.Thr432=) c.676A= (p.Thr226=) | |
| 11 | g.103120970A>C | CA382251343 | DYNC2H1 | c.1294A>C (p.Thr432Pro) c.676A>C (p.Thr226Pro) | |
| 11 | g.103120970A>G | CA6252734 | DYNC2H1 | c.1294A>G (p.Thr432Ala) c.676A>G (p.Thr226Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103120970A>T | CA382251344 | DYNC2H1 | c.1294A>T (p.Thr432Ser) c.676A>T (p.Thr226Ser) | |
| 11 | g.103120971C>A | CA382251345 | DYNC2H1 | c.1295C>A (p.Thr432Asn) c.677C>A (p.Thr226Asn) | gnomAD v4 |
| 11 | g.103120971C>G | CA382251346 | DYNC2H1 | c.1295C>G (p.Thr432Ser) c.677C>G (p.Thr226Ser) | gnomAD v4 |
| 11 | g.103120971C>T | CA382251347 | DYNC2H1 | c.1295C>T (p.Thr432Ile) c.677C>T (p.Thr226Ile) | |
| 11 | g.103120972T>A | CA476738953 | DYNC2H1 | c.1296T>A (p.Thr432=) c.678T>A (p.Thr226=) | |
| 11 | g.103120972T>C | CA476738954 | DYNC2H1 | c.1296T>C (p.Thr432=) c.678T>C (p.Thr226=) | gnomAD v4 |
| 11 | g.103120972T>G | CA476738955 | DYNC2H1 | c.1296T>G (p.Thr432=) c.678T>G (p.Thr226=) | ClinVar |
| 11 | g.103120973A= | CA1996390358 | DYNC2H1 | c.1297A= (p.Ile433=) c.679A= (p.Ile227=) | |
| 11 | g.103120973A>C | CA382251349 | DYNC2H1 | c.1297A>C (p.Ile433Leu) c.679A>C (p.Ile227Leu) | |
| 11 | g.103120973A>G | CA6252735 | DYNC2H1 | c.1297A>G (p.Ile433Val) c.679A>G (p.Ile227Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103120973A>T | CA382251348 | DYNC2H1 | c.1297A>T (p.Ile433Leu) c.679A>T (p.Ile227Leu) | |
| 11 | g.103120974T>A | CA382251350 | DYNC2H1 | c.1298T>A (p.Ile433Lys) c.680T>A (p.Ile227Lys) | |
| 11 | g.103120974T>C | CA382251351 | DYNC2H1 | c.1298T>C (p.Ile433Thr) c.680T>C (p.Ile227Thr) | gnomAD v4 |
| 11 | g.103120974T>G | CA382251352 | DYNC2H1 | c.1298T>G (p.Ile433Arg) c.680T>G (p.Ile227Arg) | |
| 11 | g.103120975A>C | CA476738958 | DYNC2H1 | c.1299A>C (p.Ile433=) c.681A>C (p.Ile227=) | |
| 11 | g.103120975A>G | CA382251353 | DYNC2H1 | c.1299A>G (p.Ile433Met) c.681A>G (p.Ile227Met) | |
| 11 | g.103120975A>T | CA476738959 | DYNC2H1 | c.1299A>T (p.Ile433=) c.681A>T (p.Ile227=) | |
| 11 | g.103120976del | CA2615741139 | DYNC2H1 | c.1300del (p.Ser434AlafsTer4) c.682del (p.Ser228AlafsTer4) | gnomAD v4 |
| 11 | g.103120976A>C | CA382251354 | DYNC2H1 | c.1300A>C (p.Ser434Arg) c.682A>C (p.Ser228Arg) | |
| 11 | g.103120976A>G | CA382251355 | DYNC2H1 | c.1300A>G (p.Ser434Gly) c.682A>G (p.Ser228Gly) | gnomAD v4 |
| 11 | g.103120976A>T | CA382251356 | DYNC2H1 | c.1300A>T (p.Ser434Cys) c.682A>T (p.Ser228Cys) | gnomAD v4 |
| 11 | g.103120977G>A | CA382251357 | DYNC2H1 | c.1301G>A (p.Ser434Asn) c.683G>A (p.Ser228Asn) | gnomAD v4 |
| 11 | g.103120977G>C | CA382251359 | DYNC2H1 | c.1301G>C (p.Ser434Thr) c.683G>C (p.Ser228Thr) | |
| 11 | g.103120977G>T | CA382251358 | DYNC2H1 | c.1301G>T (p.Ser434Ile) c.683G>T (p.Ser228Ile) | |
| 11 | g.103120978C>A | CA382251360 | DYNC2H1 | c.1302C>A (p.Ser434Arg) c.684C>A (p.Ser228Arg) | gnomAD v4 |
| 11 | g.103120978C>G | CA382251361 | DYNC2H1 | c.1302C>G (p.Ser434Arg) c.684C>G (p.Ser228Arg) | gnomAD v4 |
| 11 | g.103120978C>T | CA476738962 | DYNC2H1 | c.1302C>T (p.Ser434=) c.684C>T (p.Ser228=) | |
| 11 | g.103120979A>C | CA382251362 | DYNC2H1 | c.1303A>C (p.Lys435Gln) c.685A>C (p.Lys229Gln) | |
| 11 | g.103120979A>G | CA382251363 | DYNC2H1 | c.1303A>G (p.Lys435Glu) c.685A>G (p.Lys229Glu) | gnomAD v4 |
| 11 | g.103120979A>T | CA382251364 | DYNC2H1 | c.1303A>T (p.Lys435Ter) c.685A>T (p.Lys229Ter) | |
| 11 | g.103120980A>C | CA382251365 | DYNC2H1 | c.1304A>C (p.Lys435Thr) c.686A>C (p.Lys229Thr) | |
| 11 | g.103120980A>G | CA382251367 | DYNC2H1 | c.1304A>G (p.Lys435Arg) c.686A>G (p.Lys229Arg) | gnomAD v4 |
| 11 | g.103120980A>T | CA382251366 | DYNC2H1 | c.1304A>T (p.Lys435Ile) c.686A>T (p.Lys229Ile) | |
| 11 | g.103120981A>C | CA382251368 | DYNC2H1 | c.1305A>C (p.Lys435Asn) c.687A>C (p.Lys229Asn) | |
| 11 | g.103120981A>G | CA476738964 | DYNC2H1 | c.1305A>G (p.Lys435=) c.687A>G (p.Lys229=) | gnomAD v4 |
| 11 | g.103120981A>T | CA382251369 | DYNC2H1 | c.1305A>T (p.Lys435Asn) c.687A>T (p.Lys229Asn) | |
| 11 | g.103120982G>A | CA382251370 | DYNC2H1 | c.1306G>A (p.Glu436Lys) c.688G>A (p.Glu230Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103120982G>C | CA382251371 | DYNC2H1 | c.1306G>C (p.Glu436Gln) c.688G>C (p.Glu230Gln) | |
| 11 | g.103120982G= | CA1996390359 | DYNC2H1 | c.1306G= (p.Glu436=) c.688G= (p.Glu230=) | |
| 11 | g.103120982G>T | CA6252736 | DYNC2H1 | c.1306G>T (p.Glu436Ter) c.688G>T (p.Glu230Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.103120983A>C | CA382251372 | DYNC2H1 | c.1307A>C (p.Glu436Ala) c.689A>C (p.Glu230Ala) | |
| 11 | g.103120983A>G | CA382251373 | DYNC2H1 | c.1307A>G (p.Glu436Gly) c.689A>G (p.Glu230Gly) | gnomAD v4 |
| 11 | g.103120983A>T | CA382251374 | DYNC2H1 | c.1307A>T (p.Glu436Val) c.689A>T (p.Glu230Val) | |
| 11 | g.103120984A>C | CA382251375 | DYNC2H1 | c.1308A>C (p.Glu436Asp) c.690A>C (p.Glu230Asp) | |
| 11 | g.103120984A>G | CA476738966 | DYNC2H1 | c.1308A>G (p.Glu436=) c.690A>G (p.Glu230=) | gnomAD v4 |
| 11 | g.103120984A>T | CA382251376 | DYNC2H1 | c.1308A>T (p.Glu436Asp) c.690A>T (p.Glu230Asp) | |
| 11 | g.103120985T>A | CA382251377 | DYNC2H1 | c.1309T>A (p.Leu437Met) c.691T>A (p.Leu231Met) | |
| 11 | g.103120985T>C | CA476738967 | DYNC2H1 | c.1309T>C (p.Leu437=) c.691T>C (p.Leu231=) | |
| 11 | g.103120985T>G | CA6252737 | DYNC2H1 | c.1309T>G (p.Leu437Val) c.691T>G (p.Leu231Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103120985T= | CA1996390360 | DYNC2H1 | c.1309T= (p.Leu437=) c.691T= (p.Leu231=) | |
| 11 | g.103120986T>A | CA382251378 | DYNC2H1 | c.1310T>A (p.Leu437Ter) c.692T>A (p.Leu231Ter) | |
| 11 | g.103120986T>C | CA382251380 | DYNC2H1 | c.1310T>C (p.Leu437Ser) c.692T>C (p.Leu231Ser) | |
| 11 | g.103120986T>G | CA382251379 | DYNC2H1 | c.1310T>G (p.Leu437Trp) c.692T>G (p.Leu231Trp) | |
| 11 | g.103120987G>A | CA476738969 | DYNC2H1 | c.1311G>A (p.Leu437=) c.693G>A (p.Leu231=) | |
| 11 | g.103120987G>C | CA382251381 | DYNC2H1 | c.1311G>C (p.Leu437Phe) c.693G>C (p.Leu231Phe) | |
| 11 | g.103120987G>T | CA382251382 | DYNC2H1 | c.1311G>T (p.Leu437Phe) c.693G>T (p.Leu231Phe) | gnomAD v4 |
| 11 | g.103120988A= | CA1996390361 | DYNC2H1 | c.1312A= (p.Met438=) c.694A= (p.Met232=) | |
| 11 | g.103120988A>C | CA382251383 | DYNC2H1 | c.1312A>C (p.Met438Leu) c.694A>C (p.Met232Leu) | |
| 11 | g.103120988A>G | CA382251384 | DYNC2H1 | c.1312A>G (p.Met438Val) c.694A>G (p.Met232Val) | |
| 11 | g.103120988A>T | CA382251385 | DYNC2H1 | c.1312A>T (p.Met438Leu) c.694A>T (p.Met232Leu) | dbSNP gnomAD v4 |
| 11 | g.103120989T>A | CA382251386 | DYNC2H1 | c.1313T>A (p.Met438Lys) c.695T>A (p.Met232Lys) | gnomAD v4 |
| 11 | g.103120989T>C | CA382251387 | DYNC2H1 | c.1313T>C (p.Met438Thr) c.695T>C (p.Met232Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103120989T>G | CA382251388 | DYNC2H1 | c.1313T>G (p.Met438Arg) c.695T>G (p.Met232Arg) | |
| 11 | g.103120989T= | CA1996390362 | DYNC2H1 | c.1313T= (p.Met438=) c.695T= (p.Met232=) | |
| 11 | g.103120990G>A | CA382251389 | DYNC2H1 | c.1314G>A (p.Met438Ile) c.696G>A (p.Met232Ile) | dbSNP gnomAD v2 |
| 11 | g.103120990G>C | CA382251390 | DYNC2H1 | c.1314G>C (p.Met438Ile) c.696G>C (p.Met232Ile) | dbSNP |
| 11 | g.103120990G= | CA1996390363 | DYNC2H1 | c.1314G= (p.Met438=) c.696G= (p.Met232=) | |
| 11 | g.103120990G>T | CA382251391 | DYNC2H1 | c.1314G>T (p.Met438Ile) c.696G>T (p.Met232Ile) | |
| 11 | g.103120991T>A | CA382251392 | DYNC2H1 | c.1315T>A (p.Leu439Ile) c.697T>A (p.Leu233Ile) | |
| 11 | g.103120991T>C | CA476738973 | DYNC2H1 | c.1315T>C (p.Leu439=) c.697T>C (p.Leu233=) | |
| 11 | g.103120991T>G | CA382251393 | DYNC2H1 | c.1315T>G (p.Leu439Val) c.697T>G (p.Leu233Val) | |
| 11 | g.103120992del | CA2615741156 | DYNC2H1 | c.1316del (p.Leu439Ter) c.698del (p.Leu233Ter) | gnomAD v4 |
| 11 | g.103120992T>A | CA382251396 | DYNC2H1 | c.1316T>A (p.Leu439Ter) c.698T>A (p.Leu233Ter) | |
| 11 | g.103120992T>C | CA382251394 | DYNC2H1 | c.1316T>C (p.Leu439Ser) c.698T>C (p.Leu233Ser) | gnomAD v4 |
| 11 | g.103120992T>G | CA382251395 | DYNC2H1 | c.1316T>G (p.Leu439Ter) c.698T>G (p.Leu233Ter) | |
| 11 | g.103120993A>C | CA382251397 | DYNC2H1 | c.1317A>C (p.Leu439Phe) c.699A>C (p.Leu233Phe) | |
| 11 | g.103120993A>G | CA476738977 | DYNC2H1 | c.1317A>G (p.Leu439=) c.699A>G (p.Leu233=) | gnomAD v4 |
| 11 | g.103120993A>T | CA382251398 | DYNC2H1 | c.1317A>T (p.Leu439Phe) c.699A>T (p.Leu233Phe) | gnomAD v4 |
| 11 | g.103120996_103120999del | CA2615741159 | DYNC2H1 | c.1320_1323del (p.Arg441LysfsTer16) c.702_705del (p.Arg235LysfsTer16) | gnomAD v4 |
| 11 | g.103120994G>A | CA382251399 | DYNC2H1 | c.1318G>A (p.Glu440Lys) c.700G>A (p.Glu234Lys) | |
| 11 | g.103120994G>C | CA382251400 | DYNC2H1 | c.1318G>C (p.Glu440Gln) c.700G>C (p.Glu234Gln) | |
| 11 | g.103120994G>T | CA382251401 | DYNC2H1 | c.1318G>T (p.Glu440Ter) c.700G>T (p.Glu234Ter) | |
| 11 | g.103120995A>C | CA382251402 | DYNC2H1 | c.1319A>C (p.Glu440Ala) c.701A>C (p.Glu234Ala) | |
| 11 | g.103120995A>G | CA382251403 | DYNC2H1 | c.1319A>G (p.Glu440Gly) c.701A>G (p.Glu234Gly) | gnomAD v4 |
| 11 | g.103120995A>T | CA382251404 | DYNC2H1 | c.1319A>T (p.Glu440Val) c.701A>T (p.Glu234Val) | |
| 11 | g.103120996A= | CA1996390364 | DYNC2H1 | c.1320A= (p.Glu440=) c.702A= (p.Glu234=) | |
| 11 | g.103120996A>C | CA6252738 | DYNC2H1 | c.1320A>C (p.Glu440Asp) c.702A>C (p.Glu234Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103120996A>G | CA476738981 | DYNC2H1 | c.1320A>G (p.Glu440=) c.702A>G (p.Glu234=) | gnomAD v4 |
| 11 | g.103120996A>T | CA382251405 | DYNC2H1 | c.1320A>T (p.Glu440Asp) c.702A>T (p.Glu234Asp) | |
| 11 | g.103120996_103120998delinsAAG | CA1996390365 | DYNC2H1 | c.1320_1322delinsAAG (p.Glu440=) c.702_704delinsAAG (p.Glu234=) | |
| 11 | g.103120997A>C | CA476738982 | DYNC2H1 | c.1321A>C (p.Arg441=) c.703A>C (p.Arg235=) | |
| 11 | g.103120997A>G | CA382251406 | DYNC2H1 | c.1321A>G (p.Arg441Gly) c.703A>G (p.Arg235Gly) | |
| 11 | g.103120997A>T | CA382251407 | DYNC2H1 | c.1321A>T (p.Arg441Ter) c.703A>T (p.Arg235Ter) | |
| 11 | g.103121000_103121001del | CA670950630 | DYNC2H1 | c.1324_1325del (p.Glu442AsnfsTer11) c.706_707del (p.Glu236AsnfsTer11) | dbSNP |
| 11 | g.103120998G>A | CA382251415 | DYNC2H1 | c.1322G>A (p.Arg441Lys) c.704G>A (p.Arg235Lys) | ClinVar dbSNP |
| 11 | g.103120998G>C | CA382251413 | DYNC2H1 | c.1322G>C (p.Arg441Thr) c.704G>C (p.Arg235Thr) | |
| 11 | g.103120998G>T | CA382251411 | DYNC2H1 | c.1322G>T (p.Arg441Ile) c.704G>T (p.Arg235Ile) | |
| 11 | g.103120999A>C | CA382251417 | DYNC2H1 | c.1323A>C (p.Arg441Ser) c.705A>C (p.Arg235Ser) | |
| 11 | g.103120999A>G | CA476738983 | DYNC2H1 | c.1323A>G (p.Arg441=) c.705A>G (p.Arg235=) | |
| 11 | g.103120999A>T | CA382251419 | DYNC2H1 | c.1323A>T (p.Arg441Ser) c.705A>T (p.Arg235Ser) | |
| 11 | g.103121000G>A | CA382251423 | DYNC2H1 | c.1324G>A (p.Glu442Lys) c.706G>A (p.Glu236Lys) | |
| 11 | g.103121000G>C | CA382251425 | DYNC2H1 | c.1324G>C (p.Glu442Gln) c.706G>C (p.Glu236Gln) | |
| 11 | g.103121000G= | CA1996390366 | DYNC2H1 | c.1324G= (p.Glu442=) c.706G= (p.Glu236=) | |
| 11 | g.103121000G>T | CA382251427 | DYNC2H1 | c.1324G>T (p.Glu442Ter) c.706G>T (p.Glu236Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103121001A>C | CA382251431 | DYNC2H1 | c.1325A>C (p.Glu442Ala) c.707A>C (p.Glu236Ala) | |
| 11 | g.103121001A>G | CA382251433 | DYNC2H1 | c.1325A>G (p.Glu442Gly) c.707A>G (p.Glu236Gly) | gnomAD v4 COSMIC |
| 11 | g.103121001A>T | CA382251435 | DYNC2H1 | c.1325A>T (p.Glu442Val) c.707A>T (p.Glu236Val) | |
| 11 | g.103121002A= | CA1996390367 | DYNC2H1 | c.1326A= (p.Glu442=) c.708A= (p.Glu236=) | |
| 11 | g.103121002A>C | CA382251437 | DYNC2H1 | c.1326A>C (p.Glu442Asp) c.708A>C (p.Glu236Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103121002A>G | CA227401599 | DYNC2H1 | c.1326A>G (p.Glu442=) c.708A>G (p.Glu236=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103121002A>T | CA382251440 | DYNC2H1 | c.1326A>T (p.Glu442Asp) c.708A>T (p.Glu236Asp) | |
| 11 | g.103121003A>C | CA382251444 | DYNC2H1 | c.1327A>C (p.Thr443Pro) c.709A>C (p.Thr237Pro) | |
| 11 | g.103121003A>G | CA382251445 | DYNC2H1 | c.1327A>G (p.Thr443Ala) c.709A>G (p.Thr237Ala) | gnomAD v4 |
| 11 | g.103121003A>T | CA382251448 | DYNC2H1 | c.1327A>T (p.Thr443Ser) c.709A>T (p.Thr237Ser) | |
| 11 | g.103121004C>A | CA382251451 | DYNC2H1 | c.1328C>A (p.Thr443Asn) c.710C>A (p.Thr237Asn) | gnomAD v4 |
| 11 | g.103121004C>G | CA382251453 | DYNC2H1 | c.1328C>G (p.Thr443Ser) c.710C>G (p.Thr237Ser) | gnomAD v4 |
| 11 | g.103121004C>T | CA382251455 | DYNC2H1 | c.1328C>T (p.Thr443Ile) c.710C>T (p.Thr237Ile) | |
| 11 | g.103121005T>A | CA476738987 | DYNC2H1 | c.1329T>A (p.Thr443=) c.711T>A (p.Thr237=) | gnomAD v4 |
| 11 | g.103121005T>C | CA476738988 | DYNC2H1 | c.1329T>C (p.Thr443=) c.711T>C (p.Thr237=) | |
| 11 | g.103121005T>G | CA476738989 | DYNC2H1 | c.1329T>G (p.Thr443=) c.711T>G (p.Thr237=) | |
| 11 | g.103121007del | CA2615741161 | DYNC2H1 | c.1331del (p.Leu444TyrfsTer14) c.713del (p.Leu238TyrfsTer14) | gnomAD v4 |
| 11 | g.103121006T>A | CA382251458 | DYNC2H1 | c.1330T>A (p.Leu444Ile) c.712T>A (p.Leu238Ile) | |
| 11 | g.103121006T>C | CA476738990 | DYNC2H1 | c.1330T>C (p.Leu444=) c.712T>C (p.Leu238=) | |
| 11 | g.103121006T>G | CA382251460 | DYNC2H1 | c.1330T>G (p.Leu444Val) c.712T>G (p.Leu238Val) | |
| 11 | g.103121007T>A | CA382251464 | DYNC2H1 | c.1331T>A (p.Leu444Ter) c.713T>A (p.Leu238Ter) | |
| 11 | g.103121007T>C | CA382251466 | DYNC2H1 | c.1331T>C (p.Leu444Ser) c.713T>C (p.Leu238Ser) | gnomAD v4 |
| 11 | g.103121007T>G | CA382251468 | DYNC2H1 | c.1331T>G (p.Leu444Ter) c.713T>G (p.Leu238Ter) | |
| 11 | g.103121008A>C | CA382251471 | DYNC2H1 | c.1332A>C (p.Leu444Phe) c.714A>C (p.Leu238Phe) | |
| 11 | g.103121008A>G | CA476738991 | DYNC2H1 | c.1332A>G (p.Leu444=) c.714A>G (p.Leu238=) | gnomAD v4 |
| 11 | g.103121008A>T | CA382251473 | DYNC2H1 | c.1332A>T (p.Leu444Phe) c.714A>T (p.Leu238Phe) | |
| 11 | g.103121009C>A | CA227401600 | DYNC2H1 | c.1333C>A (p.Leu445Met) c.715C>A (p.Leu239Met) | dbSNP gnomAD v4 |
| 11 | g.103121009C= | CA1996390368 | DYNC2H1 | c.1333C= (p.Leu445=) c.715C= (p.Leu239=) | |
| 11 | g.103121009C>G | CA382251475 | DYNC2H1 | c.1333C>G (p.Leu445Val) c.715C>G (p.Leu239Val) | |
| 11 | g.103121009C>T | CA476738993 | DYNC2H1 | c.1333C>T (p.Leu445=) c.715C>T (p.Leu239=) | gnomAD v4 |
| 11 | g.103121010T>A | CA382251477 | DYNC2H1 | c.1334T>A (p.Leu445Gln) c.716T>A (p.Leu239Gln) | |
| 11 | g.103121010T>C | CA382251479 | DYNC2H1 | c.1334T>C (p.Leu445Pro) c.716T>C (p.Leu239Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103121010T>G | CA382251481 | DYNC2H1 | c.1334T>G (p.Leu445Arg) c.716T>G (p.Leu239Arg) | |
| 11 | g.103121011G>A | CA476738997 | DYNC2H1 | c.1335G>A (p.Leu445=) c.717G>A (p.Leu239=) | gnomAD v4 |
| 11 | g.103121011G>C | CA476738994 | DYNC2H1 | c.1335G>C (p.Leu445=) c.717G>C (p.Leu239=) | |
| 11 | g.103121011G>T | CA476738995 | DYNC2H1 | c.1335G>T (p.Leu445=) c.717G>T (p.Leu239=) | gnomAD v4 |
| 11 | g.103121012del | CA2724806724 | DYNC2H1 | c.1336del (p.Ala446GlnfsTer12) c.718del (p.Ala240GlnfsTer12) | dbSNP |
| 11 | g.103121012G>A | CA382251485 | DYNC2H1 | c.1336G>A (p.Ala446Thr) c.718G>A (p.Ala240Thr) | dbSNP gnomAD v4 |
| 11 | g.103121012G>C | CA382251487 | DYNC2H1 | c.1336G>C (p.Ala446Pro) c.718G>C (p.Ala240Pro) | |
| 11 | g.103121012G= | CA1996390369 | DYNC2H1 | c.1336G= (p.Ala446=) c.718G= (p.Ala240=) | |
| 11 | g.103121012G>T | CA382251489 | DYNC2H1 | c.1336G>T (p.Ala446Ser) c.718G>T (p.Ala240Ser) | gnomAD v4 |
| 11 | g.103121013C>A | CA382251492 | DYNC2H1 | c.1337C>A (p.Ala446Glu) c.719C>A (p.Ala240Glu) | dbSNP gnomAD v4 |
| 11 | g.103121013C= | CA1996390370 | DYNC2H1 | c.1337C= (p.Ala446=) c.719C= (p.Ala240=) | |
| 11 | g.103121013C>G | CA382251496 | DYNC2H1 | c.1337C>G (p.Ala446Gly) c.719C>G (p.Ala240Gly) | |
| 11 | g.103121013C>T | CA6252739 | DYNC2H1 | c.1337C>T (p.Ala446Val) c.719C>T (p.Ala240Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103121014A>C | CA476739000 | DYNC2H1 | c.1338A>C (p.Ala446=) c.720A>C (p.Ala240=) | ClinVar |
| 11 | g.103121014A>G | CA476739001 | DYNC2H1 | c.1338A>G (p.Ala446=) c.720A>G (p.Ala240=) | ClinVar gnomAD v4 |
| 11 | g.103121014A>T | CA476739002 | DYNC2H1 | c.1338A>T (p.Ala446=) c.720A>T (p.Ala240=) | |
| 11 | g.103121015A>C | CA476739003 | DYNC2H1 | c.1339A>C (p.Arg447=) c.721A>C (p.Arg241=) | |
| 11 | g.103121015A>G | CA382251500 | DYNC2H1 | c.1339A>G (p.Arg447Gly) c.721A>G (p.Arg241Gly) | gnomAD v4 |
| 11 | g.103121015A>T | CA382251502 | DYNC2H1 | c.1339A>T (p.Arg447Ter) c.721A>T (p.Arg241Ter) | |
| 11 | g.103121016G>A | CA382251504 | DYNC2H1 | c.1340G>A (p.Arg447Lys) c.722G>A (p.Arg241Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103121016G>C | CA382251507 | DYNC2H1 | c.1340G>C (p.Arg447Thr) c.722G>C (p.Arg241Thr) | |
| 11 | g.103121016G= | CA1996390371 | DYNC2H1 | c.1340G= (p.Arg447=) c.722G= (p.Arg241=) | |
| 11 | g.103121016G>T | CA382251509 | DYNC2H1 | c.1340G>T (p.Arg447Ile) c.722G>T (p.Arg241Ile) | gnomAD v4 |
| 11 | g.103121017A>C | CA382251512 | DYNC2H1 | c.1341A>C (p.Arg447Ser) c.723A>C (p.Arg241Ser) | |
| 11 | g.103121017A>G | CA476739004 | DYNC2H1 | c.1341A>G (p.Arg447=) c.723A>G (p.Arg241=) | gnomAD v4 |
| 11 | g.103121017A>T | CA382251513 | DYNC2H1 | c.1341A>T (p.Arg447Ser) c.723A>T (p.Arg241Ser) | |
| 11 | g.103121018C>A | CA382251515 | DYNC2H1 | c.1342C>A (p.Leu448Ile) c.724C>A (p.Leu242Ile) | gnomAD v4 |
| 11 | g.103121018C>G | CA382251517 | DYNC2H1 | c.1342C>G (p.Leu448Val) c.724C>G (p.Leu242Val) | |
| 11 | g.103121018C>T | CA382251520 | DYNC2H1 | c.1342C>T (p.Leu448Phe) c.724C>T (p.Leu242Phe) | |
| 11 | g.103121019T>A | CA382251522 | DYNC2H1 | c.1343T>A (p.Leu448His) c.725T>A (p.Leu242His) | |
| 11 | g.103121019T>C | CA382251524 | DYNC2H1 | c.1343T>C (p.Leu448Pro) c.725T>C (p.Leu242Pro) | gnomAD v4 |
| 11 | g.103121019T>G | CA382251526 | DYNC2H1 | c.1343T>G (p.Leu448Arg) c.725T>G (p.Leu242Arg) | |
| 11 | g.103121020T>A | CA476739008 | DYNC2H1 | c.1344T>A (p.Leu448=) c.726T>A (p.Leu242=) | gnomAD v4 |
| 11 | g.103121020T>C | CA476739009 | DYNC2H1 | c.1344T>C (p.Leu448=) c.726T>C (p.Leu242=) | gnomAD v4 |
| 11 | g.103121020T>G | CA476739010 | DYNC2H1 | c.1344T>G (p.Leu448=) c.726T>G (p.Leu242=) | |
| 11 | g.103121021G>A | CA382251531 | DYNC2H1 | c.1345G>A (p.Val449Met) c.727G>A (p.Val243Met) | gnomAD v4 |
| 11 | g.103121021G>C | CA382251528 | DYNC2H1 | c.1345G>C (p.Val449Leu) c.727G>C (p.Val243Leu) | gnomAD v4 |
| 11 | g.103121021G>T | CA382251529 | DYNC2H1 | c.1345G>T (p.Val449Leu) c.727G>T (p.Val243Leu) | gnomAD v4 |
| 11 | g.103121022T>A | CA382251533 | DYNC2H1 | c.1346T>A (p.Val449Glu) c.728T>A (p.Val243Glu) | |
| 11 | g.103121022T>C | CA382251535 | DYNC2H1 | c.1346T>C (p.Val449Ala) c.728T>C (p.Val243Ala) | |
| 11 | g.103121022T>G | CA382251538 | DYNC2H1 | c.1346T>G (p.Val449Gly) c.728T>G (p.Val243Gly) | |
| 11 | g.103121023G>A | CA476739014 | DYNC2H1 | c.1347G>A (p.Val449=) c.729G>A (p.Val243=) | gnomAD v4 |
| 11 | g.103121023G>C | CA476739015 | DYNC2H1 | c.1347G>C (p.Val449=) c.729G>C (p.Val243=) | gnomAD v4 |
| 11 | g.103121023G>T | CA476739016 | DYNC2H1 | c.1347G>T (p.Val449=) c.729G>T (p.Val243=) | |
| 11 | g.103121024del | CA2615741164 | DYNC2H1 | c.1348del (p.Asp450ThrfsTer8) c.730del (p.Asp244ThrfsTer8) | gnomAD v4 |
| 11 | g.103121024G>A | CA382251541 | DYNC2H1 | c.1348G>A (p.Asp450Asn) c.730G>A (p.Asp244Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103121024G>C | CA382251543 | DYNC2H1 | c.1348G>C (p.Asp450His) c.730G>C (p.Asp244His) | gnomAD v4 |
| 11 | g.103121024G= | CA1996390372 | DYNC2H1 | c.1348G= (p.Asp450=) c.730G= (p.Asp244=) | |
| 11 | g.103121024G>T | CA382251545 | DYNC2H1 | c.1348G>T (p.Asp450Tyr) c.730G>T (p.Asp244Tyr) | gnomAD v4 |
| 11 | g.103121025A>C | CA382251547 | DYNC2H1 | c.1349A>C (p.Asp450Ala) c.731A>C (p.Asp244Ala) | |
| 11 | g.103121025A>G | CA382251549 | DYNC2H1 | c.1349A>G (p.Asp450Gly) c.731A>G (p.Asp244Gly) | gnomAD v4 |
| 11 | g.103121025A>T | CA382251551 | DYNC2H1 | c.1349A>T (p.Asp450Val) c.731A>T (p.Asp244Val) | gnomAD v4 |
| 11 | g.103121026C>A | CA382251554 | DYNC2H1 | c.1350C>A (p.Asp450Glu) c.732C>A (p.Asp244Glu) | gnomAD v4 |
| 11 | g.103121026C= | CA1996390373 | DYNC2H1 | c.1350C= (p.Asp450=) c.732C= (p.Asp244=) | |
| 11 | g.103121026C>G | CA382251556 | DYNC2H1 | c.1350C>G (p.Asp450Glu) c.732C>G (p.Asp244Glu) | |
| 11 | g.103121026C>T | CA6252740 | DYNC2H1 | c.1350C>T (p.Asp450=) c.732C>T (p.Asp244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103121027T>A | CA382251560 | DYNC2H1 | c.1351T>A (p.Ser451Thr) c.733T>A (p.Ser245Thr) | |
| 11 | g.103121027T>C | CA382251564 | DYNC2H1 | c.1351T>C (p.Ser451Pro) c.733T>C (p.Ser245Pro) | gnomAD v4 |
| 11 | g.103121027T>G | CA382251562 | DYNC2H1 | c.1351T>G (p.Ser451Ala) c.733T>G (p.Ser245Ala) | |
| 11 | g.103121028C>A | CA382251566 | DYNC2H1 | c.1352C>A (p.Ser451Ter) c.734C>A (p.Ser245Ter) | gnomAD v4 |
| 11 | g.103121028C>G | CA382251571 | DYNC2H1 | c.1352C>G (p.Ser451Ter) c.734C>G (p.Ser245Ter) | |
| 11 | g.103121028C>T | CA382251568 | DYNC2H1 | c.1352C>T (p.Ser451Leu) c.734C>T (p.Ser245Leu) | gnomAD v4 |
| 11 | g.103121028_103121032delinsCAATT | CA1996390374 | DYNC2H1 | c.1352_1356delinsCAATT (p.Ser451=) c.734_738delinsCAATT (p.Ser245=) | |
| 11 | g.103121029A= | CA1996390375 | DYNC2H1 | c.1353A= (p.Ser451=) c.735A= (p.Ser245=) | |
| 11 | g.103121029A>C | CA476739017 | DYNC2H1 | c.1353A>C (p.Ser451=) c.735A>C (p.Ser245=) | |
| 11 | g.103121029A>G | CA476739018 | DYNC2H1 | c.1353A>G (p.Ser451=) c.735A>G (p.Ser245=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103121029A>T | CA476739019 | DYNC2H1 | c.1353A>T (p.Ser451=) c.735A>T (p.Ser245=) | ClinVar dbSNP |
| 11 | g.103121031_103121034del | CA601669958 | DYNC2H1 | c.1355_1358del (p.Ile452LysfsTer5) c.737_740del (p.Ile246LysfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103121030A>C | CA382251573 | DYNC2H1 | c.1354A>C (p.Ile452Leu) c.736A>C (p.Ile246Leu) | |
| 11 | g.103121030A>G | CA382251575 | DYNC2H1 | c.1354A>G (p.Ile452Val) c.736A>G (p.Ile246Val) | gnomAD v4 |
| 11 | g.103121030A>T | CA382251577 | DYNC2H1 | c.1354A>T (p.Ile452Phe) c.736A>T (p.Ile246Phe) | |
| 11 | g.103121031T>A | CA382251580 | DYNC2H1 | c.1355T>A (p.Ile452Asn) c.737T>A (p.Ile246Asn) | gnomAD v4 |
| 11 | g.103121031T>C | CA382251582 | DYNC2H1 | c.1355T>C (p.Ile452Thr) c.737T>C (p.Ile246Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103121031T>G | CA382251584 | DYNC2H1 | c.1355T>G (p.Ile452Ser) c.737T>G (p.Ile246Ser) | |
| 11 | g.103121031T= | CA1996390376 | DYNC2H1 | c.1355T= (p.Ile452=) c.737T= (p.Ile246=) | |
| 11 | g.103121032del | CA2615741165 | DYNC2H1 | c.1356del (p.Asp454IlefsTer4) c.738del (p.Asp248IlefsTer4) | gnomAD v4 |
| 11 | g.103121032T>A | CA476739021 | DYNC2H1 | c.1356T>A (p.Ile452=) c.738T>A (p.Ile246=) | |
| 11 | g.103121032T>C | CA476739020 | DYNC2H1 | c.1356T>C (p.Ile452=) c.738T>C (p.Ile246=) | gnomAD v4 |
| 11 | g.103121032T>G | CA382251588 | DYNC2H1 | c.1356T>G (p.Ile452Met) c.738T>G (p.Ile246Met) | |
| 11 | g.103121033A>C | CA382251590 | DYNC2H1 | c.1357A>C (p.Lys453Gln) c.739A>C (p.Lys247Gln) | |
| 11 | g.103121033A>G | CA382251593 | DYNC2H1 | c.1357A>G (p.Lys453Glu) c.739A>G (p.Lys247Glu) | |
| 11 | g.103121033A>T | CA382251595 | DYNC2H1 | c.1357A>T (p.Lys453Ter) c.739A>T (p.Lys247Ter) | gnomAD v4 |
| 11 | g.103121035del | CA2615741167 | DYNC2H1 | c.1359del (p.Asp454IlefsTer4) c.741del (p.Asp248IlefsTer4) | gnomAD v4 |
| 11 | g.103121034A>C | CA382251599 | DYNC2H1 | c.1358A>C (p.Lys453Thr) c.740A>C (p.Lys247Thr) | |
| 11 | g.103121034A>G | CA382251601 | DYNC2H1 | c.1358A>G (p.Lys453Arg) c.740A>G (p.Lys247Arg) | gnomAD v4 |
| 11 | g.103121034A>T | CA382251603 | DYNC2H1 | c.1358A>T (p.Lys453Ile) c.740A>T (p.Lys247Ile) | |
| 11 | g.103121035A>C | CA382251606 | DYNC2H1 | c.1359A>C (p.Lys453Asn) c.741A>C (p.Lys247Asn) | |
| 11 | g.103121035A>G | CA476739022 | DYNC2H1 | c.1359A>G (p.Lys453=) c.741A>G (p.Lys247=) | gnomAD v4 |
| 11 | g.103121035A>T | CA382251608 | DYNC2H1 | c.1359A>T (p.Lys453Asn) c.741A>T (p.Lys247Asn) | |
| 11 | g.103121036G>A | CA382251611 | DYNC2H1 | c.1360G>A (p.Asp454Asn) c.742G>A (p.Asp248Asn) | gnomAD v4 |
| 11 | g.103121036G>C | CA382251612 | DYNC2H1 | c.1360G>C (p.Asp454His) c.742G>C (p.Asp248His) | |
| 11 | g.103121036G>T | CA382251614 | DYNC2H1 | c.1360G>T (p.Asp454Tyr) c.742G>T (p.Asp248Tyr) | gnomAD v4 |
| 11 | g.103121037G>A | CA382251618 | DYNC2H1 | c.1360+1G>A (n.1360+1G>A) c.742+1G>A (n.742+1G>A) | gnomAD v4 |
| 11 | g.103121037G>C | CA382251620 | DYNC2H1 | c.1360+1G>C (n.1360+1G>C) c.742+1G>C (n.742+1G>C) | |
| 11 | g.103121037G>T | CA382251622 | DYNC2H1 | c.1360+1G>T (n.1360+1G>T) c.742+1G>T (n.742+1G>T) | gnomAD v4 |
| 11 | g.103121037_103121038delinsGT | CA1996390377 | DYNC2H1 | c.1360+1_1360+2delinsGT (n.1360+1_1360+2delinsGT) c.742+1_742+2delinsGT (n.742+1_742+2delinsGT) | |
| 11 | g.103121038del | CA210635 | DYNC2H1 | c.1360+2del (n.1360+2del) c.742+2del (n.742+2del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103121038T>A | CA382251625 | DYNC2H1 | c.1360+2T>A (n.1360+2T>A) c.742+2T>A (n.742+2T>A) | |
| 11 | g.103121038T>C | CA382251627 | DYNC2H1 | c.1360+2T>C (n.1360+2T>C) c.742+2T>C (n.742+2T>C) | gnomAD v4 |
| 11 | g.103121038T>G | CA382251630 | DYNC2H1 | c.1360+2T>G (n.1360+2T>G) c.742+2T>G (n.742+2T>G) | ClinVar |
| 11 | g.103121039A>G | CA2615741168 | DYNC2H1 | c.1360+3A>G (n.1360+3A>G) c.742+3A>G (n.742+3A>G) | gnomAD v4 |
| 11 | g.103121042dup | CA2573146835 | DYNC2H1 | c.1360+6dup (n.1360+6dup) c.742+6dup (n.742+6dup) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103121042del | CA2615741169 | DYNC2H1 | c.1360+6del (n.1360+6del) c.742+6del (n.742+6del) | gnomAD v4 |
| 11 | g.103121040A= | CA1996390378 | DYNC2H1 | c.1360+4A= (n.1360+4A=) c.742+4A= (n.742+4A=) | |
| 11 | g.103121040A>G | CA6252741 | DYNC2H1 | c.1360+4A>G (n.1360+4A>G) c.742+4A>G (n.742+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103121042A= | CA1996390379 | DYNC2H1 | c.1360+6A= (n.1360+6A=) c.742+6A= (n.742+6A=) | |
| 11 | g.103121042A>C | CA227401612 | DYNC2H1 | c.1360+6A>C (n.1360+6A>C) c.742+6A>C (n.742+6A>C) | dbSNP gnomAD v4 |
| 11 | g.103121042A>G | CA2615741170 | DYNC2H1 | c.1360+6A>G (n.1360+6A>G) c.742+6A>G (n.742+6A>G) | gnomAD v4 |
| 11 | g.103121043G>A | CA2615741171 | DYNC2H1 | c.1360+7G>A (n.1360+7G>A) c.742+7G>A (n.742+7G>A) | gnomAD v4 |
| 11 | g.103121043G>C | CA2615741172 | DYNC2H1 | c.1360+7G>C (n.1360+7G>C) c.742+7G>C (n.742+7G>C) | gnomAD v4 |