Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.103120938T>A | CA382251273 | DYNC2H1 | c.1262T>A (p.Phe421Tyr) c.644T>A (p.Phe215Tyr) | gnomAD v4 |
11 | g.103120938T>C | CA382251274 | DYNC2H1 | c.1262T>C (p.Phe421Ser) c.644T>C (p.Phe215Ser) | gnomAD v4 |
11 | g.103120938T>G | CA382251275 | DYNC2H1 | c.1262T>G (p.Phe421Cys) c.644T>G (p.Phe215Cys) | dbSNP |
11 | g.103120938T= | CA1996390343 | DYNC2H1 | c.1262T= (p.Phe421=) c.644T= (p.Phe215=) | |
11 | g.103120939C>A | CA6252728 | DYNC2H1 | c.1263C>A (p.Phe421Leu) c.645C>A (p.Phe215Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.103120939C= | CA1996390344 | DYNC2H1 | c.1263C= (p.Phe421=) c.645C= (p.Phe215=) | |
11 | g.103120939C>G | CA382251276 | DYNC2H1 | c.1263C>G (p.Phe421Leu) c.645C>G (p.Phe215Leu) | |
11 | g.103120939C>T | CA476738906 | DYNC2H1 | c.1263C>T (p.Phe421=) c.645C>T (p.Phe215=) | gnomAD v4 |
11 | g.103120940C>A | CA382251277 | DYNC2H1 | c.1264C>A (p.Leu422Met) c.646C>A (p.Leu216Met) | gnomAD v4 |
11 | g.103120940C>G | CA382251278 | DYNC2H1 | c.1264C>G (p.Leu422Val) c.646C>G (p.Leu216Val) | |
11 | g.103120940C>T | CA476738907 | DYNC2H1 | c.1264C>T (p.Leu422=) c.646C>T (p.Leu216=) | gnomAD v4 |
11 | g.103120941T>A | CA382251279 | DYNC2H1 | c.1265T>A (p.Leu422Gln) c.647T>A (p.Leu216Gln) | |
11 | g.103120941T>C | CA382251280 | DYNC2H1 | c.1265T>C (p.Leu422Pro) c.647T>C (p.Leu216Pro) | gnomAD v4 |
11 | g.103120941T>G | CA382251281 | DYNC2H1 | c.1265T>G (p.Leu422Arg) c.647T>G (p.Leu216Arg) | |
11 | g.103120942G>A | CA6252729 | DYNC2H1 | c.1266G>A (p.Leu422=) c.648G>A (p.Leu216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.103120942G>C | CA476738913 | DYNC2H1 | c.1266G>C (p.Leu422=) c.648G>C (p.Leu216=) | |
11 | g.103120942G= | CA1996390345 | DYNC2H1 | c.1266G= (p.Leu422=) c.648G= (p.Leu216=) | |
11 | g.103120942G>T | CA476738910 | DYNC2H1 | c.1266G>T (p.Leu422=) c.648G>T (p.Leu216=) | gnomAD v4 |
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 |