| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.103165941A>C | CA382239401 | DYNC2H1 | c.4655A>C (p.Glu1552Ala) c.*2200A>C (n.*2200A>C) c.2205+31522A>C (n.2205+31522A>C) c.4037A>C (p.Glu1346Ala) | |
| 11 | g.103165941A>G | CA382239402 | DYNC2H1 | c.4655A>G (p.Glu1552Gly) c.*2200A>G (n.*2200A>G) c.2205+31522A>G (n.2205+31522A>G) c.4037A>G (p.Glu1346Gly) | gnomAD v4 |
| 11 | g.103165941A>T | CA382239400 | DYNC2H1 | c.4655A>T (p.Glu1552Val) c.*2200A>T (n.*2200A>T) c.2205+31522A>T (n.2205+31522A>T) c.4037A>T (p.Glu1346Val) | |
| 11 | g.103165944del | CA2615743809 | DYNC2H1 | c.4658del (p.Asn1553MetfsTer16) c.*2203del (n.*2203del) c.2205+31525del (n.2205+31525del) c.4040del (p.Asn1347MetfsTer16) | gnomAD v4 |
| 11 | g.103165942A>C | CA382239403 | DYNC2H1 | c.4656A>C (p.Glu1552Asp) c.*2201A>C (n.*2201A>C) c.2205+31523A>C (n.2205+31523A>C) c.4038A>C (p.Glu1346Asp) | |
| 11 | g.103165942A>G | CA476600571 | DYNC2H1 | c.4656A>G (p.Glu1552=) c.*2201A>G (n.*2201A>G) c.2205+31523A>G (n.2205+31523A>G) c.4038A>G (p.Glu1346=) | gnomAD v4 |
| 11 | g.103165942A>T | CA382239404 | DYNC2H1 | c.4656A>T (p.Glu1552Asp) c.*2201A>T (n.*2201A>T) c.2205+31523A>T (n.2205+31523A>T) c.4038A>T (p.Glu1346Asp) | gnomAD v4 |
| 11 | g.103165943A>C | CA382239405 | DYNC2H1 | c.4657A>C (p.Asn1553His) c.*2202A>C (n.*2202A>C) c.2205+31524A>C (n.2205+31524A>C) c.4039A>C (p.Asn1347His) | COSMIC |
| 11 | g.103165943A>G | CA382239406 | DYNC2H1 | c.4657A>G (p.Asn1553Asp) c.*2202A>G (n.*2202A>G) c.2205+31524A>G (n.2205+31524A>G) c.4039A>G (p.Asn1347Asp) | |
| 11 | g.103165943A>T | CA382239407 | DYNC2H1 | c.4657A>T (p.Asn1553Tyr) c.*2202A>T (n.*2202A>T) c.2205+31524A>T (n.2205+31524A>T) c.4039A>T (p.Asn1347Tyr) | |
| 11 | g.103165944A>C | CA382239408 | DYNC2H1 | c.4658A>C (p.Asn1553Thr) c.*2203A>C (n.*2203A>C) c.2205+31525A>C (n.2205+31525A>C) c.4040A>C (p.Asn1347Thr) | |
| 11 | g.103165944A>G | CA382239409 | DYNC2H1 | c.4658A>G (p.Asn1553Ser) c.*2203A>G (n.*2203A>G) c.2205+31525A>G (n.2205+31525A>G) c.4040A>G (p.Asn1347Ser) | gnomAD v4 |
| 11 | g.103165944A>T | CA382239410 | DYNC2H1 | c.4658A>T (p.Asn1553Ile) c.*2203A>T (n.*2203A>T) c.2205+31525A>T (n.2205+31525A>T) c.4040A>T (p.Asn1347Ile) | gnomAD v4 |
| 11 | g.103165945T>A | CA382239411 | DYNC2H1 | c.4659T>A (p.Asn1553Lys) c.*2204T>A (n.*2204T>A) c.2205+31526T>A (n.2205+31526T>A) c.4041T>A (p.Asn1347Lys) | |
| 11 | g.103165945T>C | CA476600589 | DYNC2H1 | c.4659T>C (p.Asn1553=) c.*2204T>C (n.*2204T>C) c.2205+31526T>C (n.2205+31526T>C) c.4041T>C (p.Asn1347=) | gnomAD v4 |
| 11 | g.103165945T>G | CA382239412 | DYNC2H1 | c.4659T>G (p.Asn1553Lys) c.*2204T>G (n.*2204T>G) c.2205+31526T>G (n.2205+31526T>G) c.4041T>G (p.Asn1347Lys) | |
| 11 | g.103165946G>A | CA382239413 | DYNC2H1 | c.4660G>A (p.Ala1554Thr) c.*2205G>A (n.*2205G>A) c.2205+31527G>A (n.2205+31527G>A) c.4042G>A (p.Ala1348Thr) | gnomAD v4 |
| 11 | g.103165946G>C | CA382239414 | DYNC2H1 | c.4660G>C (p.Ala1554Pro) c.*2205G>C (n.*2205G>C) c.2205+31527G>C (n.2205+31527G>C) c.4042G>C (p.Ala1348Pro) | |
| 11 | g.103165946G>T | CA382239415 | DYNC2H1 | c.4660G>T (p.Ala1554Ser) c.*2205G>T (n.*2205G>T) c.2205+31527G>T (n.2205+31527G>T) c.4042G>T (p.Ala1348Ser) | gnomAD v4 |
| 11 | g.103165947C>A | CA382239418 | DYNC2H1 | c.4661C>A (p.Ala1554Asp) c.*2206C>A (n.*2206C>A) c.2205+31528C>A (n.2205+31528C>A) c.4043C>A (p.Ala1348Asp) | gnomAD v4 |
| 11 | g.103165947C>G | CA382239417 | DYNC2H1 | c.4661C>G (p.Ala1554Gly) c.*2206C>G (n.*2206C>G) c.2205+31528C>G (n.2205+31528C>G) c.4043C>G (p.Ala1348Gly) | gnomAD v4 |
| 11 | g.103165947C>T | CA382239416 | DYNC2H1 | c.4661C>T (p.Ala1554Val) c.*2206C>T (n.*2206C>T) c.2205+31528C>T (n.2205+31528C>T) c.4043C>T (p.Ala1348Val) | gnomAD v4 |
| 11 | g.103165948T>A | CA476600605 | DYNC2H1 | c.4662T>A (p.Ala1554=) c.*2207T>A (n.*2207T>A) c.2205+31529T>A (n.2205+31529T>A) c.4044T>A (p.Ala1348=) | |
| 11 | g.103165948T>C | CA476600607 | DYNC2H1 | c.4662T>C (p.Ala1554=) c.*2207T>C (n.*2207T>C) c.2205+31529T>C (n.2205+31529T>C) c.4044T>C (p.Ala1348=) | gnomAD v4 |
| 11 | g.103165948T>G | CA476600610 | DYNC2H1 | c.4662T>G (p.Ala1554=) c.*2207T>G (n.*2207T>G) c.2205+31529T>G (n.2205+31529T>G) c.4044T>G (p.Ala1348=) | |
| 11 | g.103165949A= | CA1996410754 | DYNC2H1 | c.4663A= (p.Ile1555=) c.*2208A= (n.*2208A=) c.2205+31530A= (n.2205+31530A=) c.4045A= (p.Ile1349=) | |
| 11 | g.103165949A>C | CA382239419 | DYNC2H1 | c.4663A>C (p.Ile1555Leu) c.*2208A>C (n.*2208A>C) c.2205+31530A>C (n.2205+31530A>C) c.4045A>C (p.Ile1349Leu) | |
| 11 | g.103165949A>G | CA227396054 | DYNC2H1 | c.4663A>G (p.Ile1555Val) c.*2208A>G (n.*2208A>G) c.2205+31530A>G (n.2205+31530A>G) c.4045A>G (p.Ile1349Val) | dbSNP gnomAD v4 |
| 11 | g.103165949A>T | CA382239420 | DYNC2H1 | c.4663A>T (p.Ile1555Phe) c.*2208A>T (n.*2208A>T) c.2205+31530A>T (n.2205+31530A>T) c.4045A>T (p.Ile1349Phe) | |
| 11 | g.103165950T>A | CA382239421 | DYNC2H1 | c.4664T>A (p.Ile1555Asn) c.*2209T>A (n.*2209T>A) c.2205+31531T>A (n.2205+31531T>A) c.4046T>A (p.Ile1349Asn) | gnomAD v4 |
| 11 | g.103165950T>C | CA382239422 | DYNC2H1 | c.4664T>C (p.Ile1555Thr) c.*2209T>C (n.*2209T>C) c.2205+31531T>C (n.2205+31531T>C) c.4046T>C (p.Ile1349Thr) | gnomAD v4 |
| 11 | g.103165950T>G | CA382239423 | DYNC2H1 | c.4664T>G (p.Ile1555Ser) c.*2209T>G (n.*2209T>G) c.2205+31531T>G (n.2205+31531T>G) c.4046T>G (p.Ile1349Ser) | |
| 11 | g.103165951T>A | CA476600625 | DYNC2H1 | c.4665T>A (p.Ile1555=) c.*2210T>A (n.*2210T>A) c.2205+31532T>A (n.2205+31532T>A) c.4047T>A (p.Ile1349=) | |
| 11 | g.103165951T>C | CA476600629 | DYNC2H1 | c.4665T>C (p.Ile1555=) c.*2210T>C (n.*2210T>C) c.2205+31532T>C (n.2205+31532T>C) c.4047T>C (p.Ile1349=) | gnomAD v4 |
| 11 | g.103165951T>G | CA382239424 | DYNC2H1 | c.4665T>G (p.Ile1555Met) c.*2210T>G (n.*2210T>G) c.2205+31532T>G (n.2205+31532T>G) c.4047T>G (p.Ile1349Met) | |
| 11 | g.103165952A= | CA1996410755 | DYNC2H1 | c.4666A= (p.Lys1556=) c.*2211A= (n.*2211A=) c.2205+31533A= (n.2205+31533A=) c.4048A= (p.Lys1350=) | |
| 11 | g.103165952A>C | CA382239425 | DYNC2H1 | c.4666A>C (p.Lys1556Gln) c.*2211A>C (n.*2211A>C) c.2205+31533A>C (n.2205+31533A>C) c.4048A>C (p.Lys1350Gln) | |
| 11 | g.103165952A>G | CA382239426 | DYNC2H1 | c.4666A>G (p.Lys1556Glu) c.*2211A>G (n.*2211A>G) c.2205+31533A>G (n.2205+31533A>G) c.4048A>G (p.Lys1350Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103165952A>T | CA382239427 | DYNC2H1 | c.4666A>T (p.Lys1556Ter) c.*2211A>T (n.*2211A>T) c.2205+31533A>T (n.2205+31533A>T) c.4048A>T (p.Lys1350Ter) | gnomAD v4 |
| 11 | g.103165954del | CA2615743810 | DYNC2H1 | c.4668del (p.Asp1557IlefsTer12) c.*2213del (n.*2213del) c.2205+31535del (n.2205+31535del) c.4050del (p.Asp1351IlefsTer12) | gnomAD v4 |
| 11 | g.103165953A>C | CA382239428 | DYNC2H1 | c.4667A>C (p.Lys1556Thr) c.*2212A>C (n.*2212A>C) c.2205+31534A>C (n.2205+31534A>C) c.4049A>C (p.Lys1350Thr) | |
| 11 | g.103165953A>G | CA382239429 | DYNC2H1 | c.4667A>G (p.Lys1556Arg) c.*2212A>G (n.*2212A>G) c.2205+31534A>G (n.2205+31534A>G) c.4049A>G (p.Lys1350Arg) | gnomAD v4 |
| 11 | g.103165953A>T | CA382239430 | DYNC2H1 | c.4667A>T (p.Lys1556Ile) c.*2212A>T (n.*2212A>T) c.2205+31534A>T (n.2205+31534A>T) c.4049A>T (p.Lys1350Ile) | |
| 11 | g.103165954A>C | CA382239431 | DYNC2H1 | c.4668A>C (p.Lys1556Asn) c.*2213A>C (n.*2213A>C) c.2205+31535A>C (n.2205+31535A>C) c.4050A>C (p.Lys1350Asn) | |
| 11 | g.103165954A>G | CA476600646 | DYNC2H1 | c.4668A>G (p.Lys1556=) c.*2213A>G (n.*2213A>G) c.2205+31535A>G (n.2205+31535A>G) c.4050A>G (p.Lys1350=) | |
| 11 | g.103165954A>T | CA382239432 | DYNC2H1 | c.4668A>T (p.Lys1556Asn) c.*2213A>T (n.*2213A>T) c.2205+31535A>T (n.2205+31535A>T) c.4050A>T (p.Lys1350Asn) | |
| 11 | g.103165955G>A | CA382239433 | DYNC2H1 | c.4669G>A (p.Asp1557Asn) c.*2214G>A (n.*2214G>A) c.2205+31536G>A (n.2205+31536G>A) c.4051G>A (p.Asp1351Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103165955G>C | CA382239435 | DYNC2H1 | c.4669G>C (p.Asp1557His) c.*2214G>C (n.*2214G>C) c.2205+31536G>C (n.2205+31536G>C) c.4051G>C (p.Asp1351His) | gnomAD v4 |
| 11 | g.103165955G>T | CA382239434 | DYNC2H1 | c.4669G>T (p.Asp1557Tyr) c.*2214G>T (n.*2214G>T) c.2205+31536G>T (n.2205+31536G>T) c.4051G>T (p.Asp1351Tyr) | gnomAD v4 |
| 11 | g.103165956A>C | CA382239436 | DYNC2H1 | c.4670A>C (p.Asp1557Ala) c.*2215A>C (n.*2215A>C) c.2205+31537A>C (n.2205+31537A>C) c.4052A>C (p.Asp1351Ala) | |
| 11 | g.103165956A>G | CA382239438 | DYNC2H1 | c.4670A>G (p.Asp1557Gly) c.*2215A>G (n.*2215A>G) c.2205+31537A>G (n.2205+31537A>G) c.4052A>G (p.Asp1351Gly) | gnomAD v4 |
| 11 | g.103165956A>T | CA382239437 | DYNC2H1 | c.4670A>T (p.Asp1557Val) c.*2215A>T (n.*2215A>T) c.2205+31537A>T (n.2205+31537A>T) c.4052A>T (p.Asp1351Val) | gnomAD v4 |
| 11 | g.103165957T>A | CA382239439 | DYNC2H1 | c.4671T>A (p.Asp1557Glu) c.*2216T>A (n.*2216T>A) c.2205+31538T>A (n.2205+31538T>A) c.4053T>A (p.Asp1351Glu) | |
| 11 | g.103165957T>C | CA476600663 | DYNC2H1 | c.4671T>C (p.Asp1557=) c.*2216T>C (n.*2216T>C) c.2205+31538T>C (n.2205+31538T>C) c.4053T>C (p.Asp1351=) | gnomAD v4 |
| 11 | g.103165957T>G | CA382239440 | DYNC2H1 | c.4671T>G (p.Asp1557Glu) c.*2216T>G (n.*2216T>G) c.2205+31538T>G (n.2205+31538T>G) c.4053T>G (p.Asp1351Glu) | gnomAD v4 |
| 11 | g.103165958C>A | CA382239441 | DYNC2H1 | c.4672C>A (p.His1558Asn) c.*2217C>A (n.*2217C>A) c.2205+31539C>A (n.2205+31539C>A) c.4054C>A (p.His1352Asn) | gnomAD v4 |
| 11 | g.103165958C= | CA1996410756 | DYNC2H1 | c.4672C= (p.His1558=) c.*2217C= (n.*2217C=) c.2205+31539C= (n.2205+31539C=) c.4054C= (p.His1352=) | |
| 11 | g.103165958C>G | CA382239442 | DYNC2H1 | c.4672C>G (p.His1558Asp) c.*2217C>G (n.*2217C>G) c.2205+31539C>G (n.2205+31539C>G) c.4054C>G (p.His1352Asp) | |
| 11 | g.103165958C>T | CA227396057 | DYNC2H1 | c.4672C>T (p.His1558Tyr) c.*2217C>T (n.*2217C>T) c.2205+31539C>T (n.2205+31539C>T) c.4054C>T (p.His1352Tyr) | dbSNP gnomAD v4 |
| 11 | g.103165959A>C | CA382239443 | DYNC2H1 | c.4673A>C (p.His1558Pro) c.*2218A>C (n.*2218A>C) c.2205+31540A>C (n.2205+31540A>C) c.4055A>C (p.His1352Pro) | |
| 11 | g.103165959A>G | CA382239444 | DYNC2H1 | c.4673A>G (p.His1558Arg) c.*2218A>G (n.*2218A>G) c.2205+31540A>G (n.2205+31540A>G) c.4055A>G (p.His1352Arg) | gnomAD v4 |
| 11 | g.103165959A>T | CA382239445 | DYNC2H1 | c.4673A>T (p.His1558Leu) c.*2218A>T (n.*2218A>T) c.2205+31540A>T (n.2205+31540A>T) c.4055A>T (p.His1352Leu) | |
| 11 | g.103165960T>A | CA382239446 | DYNC2H1 | c.4674T>A (p.His1558Gln) c.*2219T>A (n.*2219T>A) c.2205+31541T>A (n.2205+31541T>A) c.4056T>A (p.His1352Gln) | gnomAD v4 |
| 11 | g.103165960T>C | CA227396058 | DYNC2H1 | c.4674T>C (p.His1558=) c.*2219T>C (n.*2219T>C) c.2205+31541T>C (n.2205+31541T>C) c.4056T>C (p.His1352=) | dbSNP gnomAD v4 |
| 11 | g.103165960T>G | CA382239447 | DYNC2H1 | c.4674T>G (p.His1558Gln) c.*2219T>G (n.*2219T>G) c.2205+31541T>G (n.2205+31541T>G) c.4056T>G (p.His1352Gln) | |
| 11 | g.103165960T= | CA1996410757 | DYNC2H1 | c.4674T= (p.His1558=) c.*2219T= (n.*2219T=) c.2205+31541T= (n.2205+31541T=) c.4056T= (p.His1352=) | |
| 11 | g.103165961A= | CA1996410758 | DYNC2H1 | c.4675A= (p.Ser1559=) c.*2220A= (n.*2220A=) c.2205+31542A= (n.2205+31542A=) c.4057A= (p.Ser1353=) | |
| 11 | g.103165961A>C | CA382239450 | DYNC2H1 | c.4675A>C (p.Ser1559Arg) c.*2220A>C (n.*2220A>C) c.2205+31542A>C (n.2205+31542A>C) c.4057A>C (p.Ser1353Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103165961A>G | CA382239448 | DYNC2H1 | c.4675A>G (p.Ser1559Gly) c.*2220A>G (n.*2220A>G) c.2205+31542A>G (n.2205+31542A>G) c.4057A>G (p.Ser1353Gly) | |
| 11 | g.103165961A>T | CA382239449 | DYNC2H1 | c.4675A>T (p.Ser1559Cys) c.*2220A>T (n.*2220A>T) c.2205+31542A>T (n.2205+31542A>T) c.4057A>T (p.Ser1353Cys) | |
| 11 | g.103165962G>A | CA382239451 | DYNC2H1 | c.4676G>A (p.Ser1559Asn) c.*2221G>A (n.*2221G>A) c.2205+31543G>A (n.2205+31543G>A) c.4058G>A (p.Ser1353Asn) | gnomAD v4 |
| 11 | g.103165962G>C | CA382239452 | DYNC2H1 | c.4676G>C (p.Ser1559Thr) c.*2221G>C (n.*2221G>C) c.2205+31543G>C (n.2205+31543G>C) c.4058G>C (p.Ser1353Thr) | dbSNP gnomAD v4 |
| 11 | g.103165962G= | CA1996410759 | DYNC2H1 | c.4676G= (p.Ser1559=) c.*2221G= (n.*2221G=) c.2205+31543G= (n.2205+31543G=) c.4058G= (p.Ser1353=) | |
| 11 | g.103165962G>T | CA382239453 | DYNC2H1 | c.4676G>T (p.Ser1559Ile) c.*2221G>T (n.*2221G>T) c.2205+31543G>T (n.2205+31543G>T) c.4058G>T (p.Ser1353Ile) | gnomAD v4 |
| 11 | g.103165962_103165963insACAGG | CA2615743811 | DYNC2H1 | c.4676_4677insACAGG (p.Ser1559ArgfsTer12) c.*2221_*2222insACAGG (n.*2221_*2222insACAGG) c.2205+31543_2205+31544insACAGG (n.2205+31543_2205+31544insACAGG) c.4058_4059insACAGG (p.Ser1353ArgfsTer12) | gnomAD v4 |
| 11 | g.103165963T>A | CA382239454 | DYNC2H1 | c.4677T>A (p.Ser1559Arg) c.*2222T>A (n.*2222T>A) c.2205+31544T>A (n.2205+31544T>A) c.4059T>A (p.Ser1353Arg) | gnomAD v4 |
| 11 | g.103165963T>C | CA476600692 | DYNC2H1 | c.4677T>C (p.Ser1559=) c.*2222T>C (n.*2222T>C) c.2205+31544T>C (n.2205+31544T>C) c.4059T>C (p.Ser1353=) | |
| 11 | g.103165963T>G | CA382239455 | DYNC2H1 | c.4677T>G (p.Ser1559Arg) c.*2222T>G (n.*2222T>G) c.2205+31544T>G (n.2205+31544T>G) c.4059T>G (p.Ser1353Arg) | gnomAD v4 |
| 11 | g.103165964C>A | CA382239456 | DYNC2H1 | c.4678C>A (p.Leu1560Ile) c.*2223C>A (n.*2223C>A) c.2205+31545C>A (n.2205+31545C>A) c.4060C>A (p.Leu1354Ile) | |
| 11 | g.103165964C= | CA1996410760 | DYNC2H1 | c.4678C= (p.Leu1560=) c.*2223C= (n.*2223C=) c.2205+31545C= (n.2205+31545C=) c.4060C= (p.Leu1354=) | |
| 11 | g.103165964C>G | CA382239457 | DYNC2H1 | c.4678C>G (p.Leu1560Val) c.*2223C>G (n.*2223C>G) c.2205+31545C>G (n.2205+31545C>G) c.4060C>G (p.Leu1354Val) | |
| 11 | g.103165964C>T | CA227396059 | DYNC2H1 | c.4678C>T (p.Leu1560Phe) c.*2223C>T (n.*2223C>T) c.2205+31545C>T (n.2205+31545C>T) c.4060C>T (p.Leu1354Phe) | dbSNP gnomAD v4 |
| 11 | g.103165965T>A | CA382239458 | DYNC2H1 | c.4679T>A (p.Leu1560His) c.*2224T>A (n.*2224T>A) c.2205+31546T>A (n.2205+31546T>A) c.4061T>A (p.Leu1354His) | gnomAD v4 |
| 11 | g.103165965T>C | CA382239459 | DYNC2H1 | c.4679T>C (p.Leu1560Pro) c.*2224T>C (n.*2224T>C) c.2205+31546T>C (n.2205+31546T>C) c.4061T>C (p.Leu1354Pro) | gnomAD v4 |
| 11 | g.103165965T>G | CA382239460 | DYNC2H1 | c.4679T>G (p.Leu1560Arg) c.*2224T>G (n.*2224T>G) c.2205+31546T>G (n.2205+31546T>G) c.4061T>G (p.Leu1354Arg) | |
| 11 | g.103165966T>A | CA476600711 | DYNC2H1 | c.4680T>A (p.Leu1560=) c.*2225T>A (n.*2225T>A) c.2205+31547T>A (n.2205+31547T>A) c.4062T>A (p.Leu1354=) | |
| 11 | g.103165966T>C | CA476600716 | DYNC2H1 | c.4680T>C (p.Leu1560=) c.*2225T>C (n.*2225T>C) c.2205+31547T>C (n.2205+31547T>C) c.4062T>C (p.Leu1354=) | gnomAD v4 |
| 11 | g.103165966T>G | CA476600713 | DYNC2H1 | c.4680T>G (p.Leu1560=) c.*2225T>G (n.*2225T>G) c.2205+31547T>G (n.2205+31547T>G) c.4062T>G (p.Leu1354=) | |
| 11 | g.103165967C>A | CA382239462 | DYNC2H1 | c.4681C>A (p.His1561Asn) c.*2226C>A (n.*2226C>A) c.2205+31548C>A (n.2205+31548C>A) c.4063C>A (p.His1355Asn) | gnomAD v4 |
| 11 | g.103165967C>G | CA382239463 | DYNC2H1 | c.4681C>G (p.His1561Asp) c.*2226C>G (n.*2226C>G) c.2205+31548C>G (n.2205+31548C>G) c.4063C>G (p.His1355Asp) | gnomAD v4 |
| 11 | g.103165967C>T | CA382239461 | DYNC2H1 | c.4681C>T (p.His1561Tyr) c.*2226C>T (n.*2226C>T) c.2205+31548C>T (n.2205+31548C>T) c.4063C>T (p.His1355Tyr) | |
| 11 | g.103165968A>C | CA382239464 | DYNC2H1 | c.4682A>C (p.His1561Pro) c.*2227A>C (n.*2227A>C) c.2205+31549A>C (n.2205+31549A>C) c.4064A>C (p.His1355Pro) | |
| 11 | g.103165968A>G | CA382239465 | DYNC2H1 | c.4682A>G (p.His1561Arg) c.*2227A>G (n.*2227A>G) c.2205+31549A>G (n.2205+31549A>G) c.4064A>G (p.His1355Arg) | |
| 11 | g.103165968A>T | CA382239466 | DYNC2H1 | c.4682A>T (p.His1561Leu) c.*2227A>T (n.*2227A>T) c.2205+31549A>T (n.2205+31549A>T) c.4064A>T (p.His1355Leu) | |
| 11 | g.103165969T>A | CA382239467 | DYNC2H1 | c.4683T>A (p.His1561Gln) c.*2228T>A (n.*2228T>A) c.2205+31550T>A (n.2205+31550T>A) c.4065T>A (p.His1355Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103165969T>C | CA476600727 | DYNC2H1 | c.4683T>C (p.His1561=) c.*2228T>C (n.*2228T>C) c.2205+31550T>C (n.2205+31550T>C) c.4065T>C (p.His1355=) | |
| 11 | g.103165969T>G | CA382239468 | DYNC2H1 | c.4683T>G (p.His1561Gln) c.*2228T>G (n.*2228T>G) c.2205+31550T>G (n.2205+31550T>G) c.4065T>G (p.His1355Gln) | |
| 11 | g.103165969T= | CA1996410761 | DYNC2H1 | c.4683T= (p.His1561=) c.*2228T= (n.*2228T=) c.2205+31550T= (n.2205+31550T=) c.4065T= (p.His1355=) | |
| 11 | g.103165970C>A | CA382239469 | DYNC2H1 | c.4684C>A (p.Gln1562Lys) c.*2229C>A (n.*2229C>A) c.2205+31551C>A (n.2205+31551C>A) c.4066C>A (p.Gln1356Lys) | gnomAD v4 |
| 11 | g.103165970C>G | CA382239470 | DYNC2H1 | c.4684C>G (p.Gln1562Glu) c.*2229C>G (n.*2229C>G) c.2205+31551C>G (n.2205+31551C>G) c.4066C>G (p.Gln1356Glu) | |
| 11 | g.103165970C>T | CA382239471 | DYNC2H1 | c.4684C>T (p.Gln1562Ter) c.*2229C>T (n.*2229C>T) c.2205+31551C>T (n.2205+31551C>T) c.4066C>T (p.Gln1356Ter) | gnomAD v4 |
| 11 | g.103165971A>C | CA382239472 | DYNC2H1 | c.4685A>C (p.Gln1562Pro) c.*2230A>C (n.*2230A>C) c.2205+31552A>C (n.2205+31552A>C) c.4067A>C (p.Gln1356Pro) | |
| 11 | g.103165971A>G | CA382239473 | DYNC2H1 | c.4685A>G (p.Gln1562Arg) c.*2230A>G (n.*2230A>G) c.2205+31552A>G (n.2205+31552A>G) c.4067A>G (p.Gln1356Arg) | COSMIC |
| 11 | g.103165971A>T | CA382239474 | DYNC2H1 | c.4685A>T (p.Gln1562Leu) c.*2230A>T (n.*2230A>T) c.2205+31552A>T (n.2205+31552A>T) c.4067A>T (p.Gln1356Leu) | gnomAD v4 |
| 11 | g.103165972G>A | CA476600728 | DYNC2H1 | c.4686G>A (p.Gln1562=) c.*2231G>A (n.*2231G>A) c.2205+31553G>A (n.2205+31553G>A) c.4068G>A (p.Gln1356=) | |
| 11 | g.103165972G>C | CA382239475 | DYNC2H1 | c.4686G>C (p.Gln1562His) c.*2231G>C (n.*2231G>C) c.2205+31553G>C (n.2205+31553G>C) c.4068G>C (p.Gln1356His) | |
| 11 | g.103165972G= | CA1996410762 | DYNC2H1 | c.4686G= (p.Gln1562=) c.*2231G= (n.*2231G=) c.2205+31553G= (n.2205+31553G=) c.4068G= (p.Gln1356=) | |
| 11 | g.103165972G>T | CA382239476 | DYNC2H1 | c.4686G>T (p.Gln1562His) c.*2231G>T (n.*2231G>T) c.2205+31553G>T (n.2205+31553G>T) c.4068G>T (p.Gln1356His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103165973A>C | CA382239479 | DYNC2H1 | c.4687A>C (p.Ile1563Leu) c.*2232A>C (n.*2232A>C) c.2205+31554A>C (n.2205+31554A>C) c.4069A>C (p.Ile1357Leu) | |
| 11 | g.103165973A>G | CA382239478 | DYNC2H1 | c.4687A>G (p.Ile1563Val) c.*2232A>G (n.*2232A>G) c.2205+31554A>G (n.2205+31554A>G) c.4069A>G (p.Ile1357Val) | |
| 11 | g.103165973A>T | CA382239477 | DYNC2H1 | c.4687A>T (p.Ile1563Phe) c.*2232A>T (n.*2232A>T) c.2205+31554A>T (n.2205+31554A>T) c.4069A>T (p.Ile1357Phe) | |
| 11 | g.103165974T>A | CA382239480 | DYNC2H1 | c.4688T>A (p.Ile1563Asn) c.*2233T>A (n.*2233T>A) c.2205+31555T>A (n.2205+31555T>A) c.4070T>A (p.Ile1357Asn) | |
| 11 | g.103165974T>C | CA382239481 | DYNC2H1 | c.4688T>C (p.Ile1563Thr) c.*2233T>C (n.*2233T>C) c.2205+31555T>C (n.2205+31555T>C) c.4070T>C (p.Ile1357Thr) | gnomAD v4 |
| 11 | g.103165974T>G | CA382239482 | DYNC2H1 | c.4688T>G (p.Ile1563Ser) c.*2233T>G (n.*2233T>G) c.2205+31555T>G (n.2205+31555T>G) c.4070T>G (p.Ile1357Ser) | |
| 11 | g.103165975T>A | CA476600729 | DYNC2H1 | c.4689T>A (p.Ile1563=) c.*2234T>A (n.*2234T>A) c.2205+31556T>A (n.2205+31556T>A) c.4071T>A (p.Ile1357=) | |
| 11 | g.103165975T>C | CA476600730 | DYNC2H1 | c.4689T>C (p.Ile1563=) c.*2234T>C (n.*2234T>C) c.2205+31556T>C (n.2205+31556T>C) c.4071T>C (p.Ile1357=) | gnomAD v4 |
| 11 | g.103165975T>G | CA382239483 | DYNC2H1 | c.4689T>G (p.Ile1563Met) c.*2234T>G (n.*2234T>G) c.2205+31556T>G (n.2205+31556T>G) c.4071T>G (p.Ile1357Met) | |
| 11 | g.103165976G>A | CA382239484 | DYNC2H1 | c.4690G>A (p.Glu1564Lys) c.*2235G>A (n.*2235G>A) c.2205+31557G>A (n.2205+31557G>A) c.4072G>A (p.Glu1358Lys) | |
| 11 | g.103165976G>C | CA382239485 | DYNC2H1 | c.4690G>C (p.Glu1564Gln) c.*2235G>C (n.*2235G>C) c.2205+31557G>C (n.2205+31557G>C) c.4072G>C (p.Glu1358Gln) | |
| 11 | g.103165976G>T | CA382239486 | DYNC2H1 | c.4690G>T (p.Glu1564Ter) c.*2235G>T (n.*2235G>T) c.2205+31557G>T (n.2205+31557G>T) c.4072G>T (p.Glu1358Ter) | gnomAD v4 |
| 11 | g.103165977A>C | CA382239487 | DYNC2H1 | c.4691A>C (p.Glu1564Ala) c.*2236A>C (n.*2236A>C) c.2205+31558A>C (n.2205+31558A>C) c.4073A>C (p.Glu1358Ala) | |
| 11 | g.103165977A>G | CA382239488 | DYNC2H1 | c.4691A>G (p.Glu1564Gly) c.*2236A>G (n.*2236A>G) c.2205+31558A>G (n.2205+31558A>G) c.4073A>G (p.Glu1358Gly) | |
| 11 | g.103165977A>T | CA382239489 | DYNC2H1 | c.4691A>T (p.Glu1564Val) c.*2236A>T (n.*2236A>T) c.2205+31558A>T (n.2205+31558A>T) c.4073A>T (p.Glu1358Val) | |
| 11 | g.103165978A>C | CA382239490 | DYNC2H1 | c.4692A>C (p.Glu1564Asp) c.*2237A>C (n.*2237A>C) c.2205+31559A>C (n.2205+31559A>C) c.4074A>C (p.Glu1358Asp) | |
| 11 | g.103165978A>G | CA476600731 | DYNC2H1 | c.4692A>G (p.Glu1564=) c.*2237A>G (n.*2237A>G) c.2205+31559A>G (n.2205+31559A>G) c.4074A>G (p.Glu1358=) | gnomAD v4 |
| 11 | g.103165978A>T | CA382239491 | DYNC2H1 | c.4692A>T (p.Glu1564Asp) c.*2237A>T (n.*2237A>T) c.2205+31559A>T (n.2205+31559A>T) c.4074A>T (p.Glu1358Asp) | |
| 11 | g.103165979A>C | CA382239494 | DYNC2H1 | c.4693A>C (p.Thr1565Pro) c.*2238A>C (n.*2238A>C) c.2205+31560A>C (n.2205+31560A>C) c.4075A>C (p.Thr1359Pro) | |
| 11 | g.103165979A>G | CA382239493 | DYNC2H1 | c.4693A>G (p.Thr1565Ala) c.*2238A>G (n.*2238A>G) c.2205+31560A>G (n.2205+31560A>G) c.4075A>G (p.Thr1359Ala) | |
| 11 | g.103165979A>T | CA382239492 | DYNC2H1 | c.4693A>T (p.Thr1565Ser) c.*2238A>T (n.*2238A>T) c.2205+31560A>T (n.2205+31560A>T) c.4075A>T (p.Thr1359Ser) | |
| 11 | g.103165980C>A | CA382239495 | DYNC2H1 | c.4694C>A (p.Thr1565Lys) c.*2239C>A (n.*2239C>A) c.2205+31561C>A (n.2205+31561C>A) c.4076C>A (p.Thr1359Lys) | gnomAD v4 |
| 11 | g.103165980C>G | CA382239497 | DYNC2H1 | c.4694C>G (p.Thr1565Arg) c.*2239C>G (n.*2239C>G) c.2205+31561C>G (n.2205+31561C>G) c.4076C>G (p.Thr1359Arg) | |
| 11 | g.103165980C>T | CA382239496 | DYNC2H1 | c.4694C>T (p.Thr1565Ile) c.*2239C>T (n.*2239C>T) c.2205+31561C>T (n.2205+31561C>T) c.4076C>T (p.Thr1359Ile) | |
| 11 | g.103165981A= | CA1996410763 | DYNC2H1 | c.4695A= (p.Thr1565=) c.*2240A= (n.*2240A=) c.2205+31562A= (n.2205+31562A=) c.4077A= (p.Thr1359=) | |
| 11 | g.103165981A>C | CA476600734 | DYNC2H1 | c.4695A>C (p.Thr1565=) c.*2240A>C (n.*2240A>C) c.2205+31562A>C (n.2205+31562A>C) c.4077A>C (p.Thr1359=) | |
| 11 | g.103165981A>G | CA476600732 | DYNC2H1 | c.4695A>G (p.Thr1565=) c.*2240A>G (n.*2240A>G) c.2205+31562A>G (n.2205+31562A>G) c.4077A>G (p.Thr1359=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103165981A>T | CA476600733 | DYNC2H1 | c.4695A>T (p.Thr1565=) c.*2240A>T (n.*2240A>T) c.2205+31562A>T (n.2205+31562A>T) c.4077A>T (p.Thr1359=) | ClinVar dbSNP |
| 11 | g.103165982C>A | CA382239498 | DYNC2H1 | c.4696C>A (p.Gln1566Lys) c.*2241C>A (n.*2241C>A) c.2205+31563C>A (n.2205+31563C>A) c.4078C>A (p.Gln1360Lys) | gnomAD v4 |
| 11 | g.103165982C>G | CA382239499 | DYNC2H1 | c.4696C>G (p.Gln1566Glu) c.*2241C>G (n.*2241C>G) c.2205+31563C>G (n.2205+31563C>G) c.4078C>G (p.Gln1360Glu) | ClinVar |
| 11 | g.103165982C>T | CA382239500 | DYNC2H1 | c.4696C>T (p.Gln1566Ter) c.*2241C>T (n.*2241C>T) c.2205+31563C>T (n.2205+31563C>T) c.4078C>T (p.Gln1360Ter) | gnomAD v4 |
| 11 | g.103165982_103165983delinsCA | CA1996410764 | DYNC2H1 | c.4696_4697delinsCA (p.Gln1566=) c.*2241_*2242delinsCA (n.*2241_*2242delinsCA) c.2205+31563_2205+31564delinsCA (n.2205+31563_2205+31564delinsCA) c.4078_4079delinsCA (p.Gln1360=) | |
| 11 | g.103165983A>C | CA382239501 | DYNC2H1 | c.4697A>C (p.Gln1566Pro) c.*2242A>C (n.*2242A>C) c.2205+31564A>C (n.2205+31564A>C) c.4079A>C (p.Gln1360Pro) | |
| 11 | g.103165983A>G | CA382239502 | DYNC2H1 | c.4697A>G (p.Gln1566Arg) c.*2242A>G (n.*2242A>G) c.2205+31564A>G (n.2205+31564A>G) c.4079A>G (p.Gln1360Arg) | |
| 11 | g.103165983A>T | CA382239503 | DYNC2H1 | c.4697A>T (p.Gln1566Leu) c.*2242A>T (n.*2242A>T) c.2205+31564A>T (n.2205+31564A>T) c.4079A>T (p.Gln1360Leu) | |
| 11 | g.103165984del | CA891862825 | DYNC2H1 | c.4698del (p.Gln1566HisfsTer3) c.*2243del (n.*2243del) c.2205+31565del (n.2205+31565del) c.4080del (p.Gln1360HisfsTer3) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103165984A>C | CA382239504 | DYNC2H1 | c.4698A>C (p.Gln1566His) c.*2243A>C (n.*2243A>C) c.2205+31565A>C (n.2205+31565A>C) c.4080A>C (p.Gln1360His) | |
| 11 | g.103165984A>G | CA476600735 | DYNC2H1 | c.4698A>G (p.Gln1566=) c.*2243A>G (n.*2243A>G) c.2205+31565A>G (n.2205+31565A>G) c.4080A>G (p.Gln1360=) | gnomAD v4 |
| 11 | g.103165984A>T | CA382239505 | DYNC2H1 | c.4698A>T (p.Gln1566His) c.*2243A>T (n.*2243A>T) c.2205+31565A>T (n.2205+31565A>T) c.4080A>T (p.Gln1360His) | |
| 11 | g.103165985C>A | CA382239506 | DYNC2H1 | c.4699C>A (p.Leu1567Met) c.*2244C>A (n.*2244C>A) c.2205+31566C>A (n.2205+31566C>A) c.4081C>A (p.Leu1361Met) | gnomAD v4 |
| 11 | g.103165985C= | CA1996410765 | DYNC2H1 | c.4699C= (p.Leu1567=) c.*2244C= (n.*2244C=) c.2205+31566C= (n.2205+31566C=) c.4081C= (p.Leu1361=) | |
| 11 | g.103165985C>G | CA227396060 | DYNC2H1 | c.4699C>G (p.Leu1567Val) c.*2244C>G (n.*2244C>G) c.2205+31566C>G (n.2205+31566C>G) c.4081C>G (p.Leu1361Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103165985C>T | CA476600737 | DYNC2H1 | c.4699C>T (p.Leu1567=) c.*2244C>T (n.*2244C>T) c.2205+31566C>T (n.2205+31566C>T) c.4081C>T (p.Leu1361=) | |
| 11 | g.103165986T>A | CA382239507 | DYNC2H1 | c.4700T>A (p.Leu1567Gln) c.*2245T>A (n.*2245T>A) c.2205+31567T>A (n.2205+31567T>A) c.4082T>A (p.Leu1361Gln) | |
| 11 | g.103165986T>C | CA382239508 | DYNC2H1 | c.4700T>C (p.Leu1567Pro) c.*2245T>C (n.*2245T>C) c.2205+31567T>C (n.2205+31567T>C) c.4082T>C (p.Leu1361Pro) | gnomAD v4 |
| 11 | g.103165986T>G | CA382239509 | DYNC2H1 | c.4700T>G (p.Leu1567Arg) c.*2245T>G (n.*2245T>G) c.2205+31567T>G (n.2205+31567T>G) c.4082T>G (p.Leu1361Arg) | |
| 11 | g.103165987G>A | CA6253615 | DYNC2H1 | c.4701G>A (p.Leu1567=) c.*2246G>A (n.*2246G>A) c.2205+31568G>A (n.2205+31568G>A) c.4083G>A (p.Leu1361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103165987G>C | CA476600738 | DYNC2H1 | c.4701G>C (p.Leu1567=) c.*2246G>C (n.*2246G>C) c.2205+31568G>C (n.2205+31568G>C) c.4083G>C (p.Leu1361=) | |
| 11 | g.103165987G= | CA1996410766 | DYNC2H1 | c.4701G= (p.Leu1567=) c.*2246G= (n.*2246G=) c.2205+31568G= (n.2205+31568G=) c.4083G= (p.Leu1361=) | |
| 11 | g.103165987G>T | CA476600739 | DYNC2H1 | c.4701G>T (p.Leu1567=) c.*2246G>T (n.*2246G>T) c.2205+31568G>T (n.2205+31568G>T) c.4083G>T (p.Leu1361=) | |
| 11 | g.103165988del | CA2615743812 | DYNC2H1 | c.4702del (p.Val1568Ter) c.*2247del (n.*2247del) c.2205+31569del (n.2205+31569del) c.4084del (p.Val1362Ter) | gnomAD v4 |
| 11 | g.103165988G>A | CA382239510 | DYNC2H1 | c.4702G>A (p.Val1568Met) c.*2247G>A (n.*2247G>A) c.2205+31569G>A (n.2205+31569G>A) c.4084G>A (p.Val1362Met) | gnomAD v4 |
| 11 | g.103165988G>C | CA382239511 | DYNC2H1 | c.4702G>C (p.Val1568Leu) c.*2247G>C (n.*2247G>C) c.2205+31569G>C (n.2205+31569G>C) c.4084G>C (p.Val1362Leu) | gnomAD v4 |
| 11 | g.103165988G= | CA1996410767 | DYNC2H1 | c.4702G= (p.Val1568=) c.*2247G= (n.*2247G=) c.2205+31569G= (n.2205+31569G=) c.4084G= (p.Val1362=) | |
| 11 | g.103165988G>T | CA6253616 | DYNC2H1 | c.4702G>T (p.Val1568Leu) c.*2247G>T (n.*2247G>T) c.2205+31569G>T (n.2205+31569G>T) c.4084G>T (p.Val1362Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103165989T>A | CA382239512 | DYNC2H1 | c.4703T>A (p.Val1568Glu) c.*2248T>A (n.*2248T>A) c.2205+31570T>A (n.2205+31570T>A) c.4085T>A (p.Val1362Glu) | |
| 11 | g.103165989T>C | CA382239513 | DYNC2H1 | c.4703T>C (p.Val1568Ala) c.*2248T>C (n.*2248T>C) c.2205+31570T>C (n.2205+31570T>C) c.4085T>C (p.Val1362Ala) | gnomAD v4 |
| 11 | g.103165989T>G | CA382239514 | DYNC2H1 | c.4703T>G (p.Val1568Gly) c.*2248T>G (n.*2248T>G) c.2205+31570T>G (n.2205+31570T>G) c.4085T>G (p.Val1362Gly) | |
| 11 | g.103165990G>A | CA476600741 | DYNC2H1 | c.4704G>A (p.Val1568=) c.*2249G>A (n.*2249G>A) c.2205+31571G>A (n.2205+31571G>A) c.4086G>A (p.Val1362=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103165990G>C | CA476600742 | DYNC2H1 | c.4704G>C (p.Val1568=) c.*2249G>C (n.*2249G>C) c.2205+31571G>C (n.2205+31571G>C) c.4086G>C (p.Val1362=) | |
| 11 | g.103165990G= | CA1996410768 | DYNC2H1 | c.4704G= (p.Val1568=) c.*2249G= (n.*2249G=) c.2205+31571G= (n.2205+31571G=) c.4086G= (p.Val1362=) | |
| 11 | g.103165990G>T | CA476600743 | DYNC2H1 | c.4704G>T (p.Val1568=) c.*2249G>T (n.*2249G>T) c.2205+31571G>T (n.2205+31571G>T) c.4086G>T (p.Val1362=) | gnomAD v4 |
| 11 | g.103165991A>C | CA382239515 | DYNC2H1 | c.4705A>C (p.Asn1569His) c.*2250A>C (n.*2250A>C) c.2205+31572A>C (n.2205+31572A>C) c.4087A>C (p.Asn1363His) | |
| 11 | g.103165991A>G | CA382239516 | DYNC2H1 | c.4705A>G (p.Asn1569Asp) c.*2250A>G (n.*2250A>G) c.2205+31572A>G (n.2205+31572A>G) c.4087A>G (p.Asn1363Asp) | |
| 11 | g.103165991A>T | CA382239517 | DYNC2H1 | c.4705A>T (p.Asn1569Tyr) c.*2250A>T (n.*2250A>T) c.2205+31572A>T (n.2205+31572A>T) c.4087A>T (p.Asn1363Tyr) | |
| 11 | g.103165992A>C | CA382239518 | DYNC2H1 | c.4706A>C (p.Asn1569Thr) c.*2251A>C (n.*2251A>C) c.2205+31573A>C (n.2205+31573A>C) c.4088A>C (p.Asn1363Thr) | |
| 11 | g.103165992A>G | CA382239519 | DYNC2H1 | c.4706A>G (p.Asn1569Ser) c.*2251A>G (n.*2251A>G) c.2205+31573A>G (n.2205+31573A>G) c.4088A>G (p.Asn1363Ser) | |
| 11 | g.103165992A>T | CA382239520 | DYNC2H1 | c.4706A>T (p.Asn1569Ile) c.*2251A>T (n.*2251A>T) c.2205+31573A>T (n.2205+31573A>T) c.4088A>T (p.Asn1363Ile) | |
| 11 | g.103165993T>A | CA382239522 | DYNC2H1 | c.4707T>A (p.Asn1569Lys) c.*2252T>A (n.*2252T>A) c.2205+31574T>A (n.2205+31574T>A) c.4089T>A (p.Asn1363Lys) | |
| 11 | g.103165993T>C | CA476600746 | DYNC2H1 | c.4707T>C (p.Asn1569=) c.*2252T>C (n.*2252T>C) c.2205+31574T>C (n.2205+31574T>C) c.4089T>C (p.Asn1363=) | |
| 11 | g.103165993T>G | CA382239521 | DYNC2H1 | c.4707T>G (p.Asn1569Lys) c.*2252T>G (n.*2252T>G) c.2205+31574T>G (n.2205+31574T>G) c.4089T>G (p.Asn1363Lys) | |
| 11 | g.103165994A= | CA1996410769 | DYNC2H1 | c.4708A= (p.Lys1570=) c.*2253A= (n.*2253A=) c.2205+31575A= (n.2205+31575A=) c.4090A= (p.Lys1364=) | |
| 11 | g.103165994A>C | CA382239523 | DYNC2H1 | c.4708A>C (p.Lys1570Gln) c.*2253A>C (n.*2253A>C) c.2205+31575A>C (n.2205+31575A>C) c.4090A>C (p.Lys1364Gln) | |
| 11 | g.103165994A>G | CA382239524 | DYNC2H1 | c.4708A>G (p.Lys1570Glu) c.*2253A>G (n.*2253A>G) c.2205+31575A>G (n.2205+31575A>G) c.4090A>G (p.Lys1364Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103165994A>T | CA382239525 | DYNC2H1 | c.4708A>T (p.Lys1570Ter) c.*2253A>T (n.*2253A>T) c.2205+31575A>T (n.2205+31575A>T) c.4090A>T (p.Lys1364Ter) | |
| 11 | g.103165995A>C | CA382239526 | DYNC2H1 | c.4709A>C (p.Lys1570Thr) c.*2254A>C (n.*2254A>C) c.2205+31576A>C (n.2205+31576A>C) c.4091A>C (p.Lys1364Thr) | |
| 11 | g.103165995A>G | CA382239527 | DYNC2H1 | c.4709A>G (p.Lys1570Arg) c.*2254A>G (n.*2254A>G) c.2205+31576A>G (n.2205+31576A>G) c.4091A>G (p.Lys1364Arg) | |
| 11 | g.103165995A>T | CA382239528 | DYNC2H1 | c.4709A>T (p.Lys1570Met) c.*2254A>T (n.*2254A>T) c.2205+31576A>T (n.2205+31576A>T) c.4091A>T (p.Lys1364Met) | |
| 11 | g.103165996G>A | CA476600750 | DYNC2H1 | c.4710G>A (p.Lys1570=) c.*2255G>A (n.*2255G>A) c.2205+31577G>A (n.2205+31577G>A) c.4092G>A (p.Lys1364=) | gnomAD v4 |
| 11 | g.103165996G>C | CA382239529 | DYNC2H1 | c.4710G>C (p.Lys1570Asn) c.*2255G>C (n.*2255G>C) c.2205+31577G>C (n.2205+31577G>C) c.4092G>C (p.Lys1364Asn) | dbSNP |
| 11 | g.103165996G= | CA1996410770 | DYNC2H1 | c.4710G= (p.Lys1570=) c.*2255G= (n.*2255G=) c.2205+31577G= (n.2205+31577G=) c.4092G= (p.Lys1364=) | |
| 11 | g.103165996G>T | CA382239530 | DYNC2H1 | c.4710G>T (p.Lys1570Asn) c.*2255G>T (n.*2255G>T) c.2205+31577G>T (n.2205+31577G>T) c.4092G>T (p.Lys1364Asn) | |
| 11 | g.103165997T>A | CA382239531 | DYNC2H1 | c.4711T>A (p.Leu1571Ile) c.*2256T>A (n.*2256T>A) c.2205+31578T>A (n.2205+31578T>A) c.4093T>A (p.Leu1365Ile) | |
| 11 | g.103165997T>C | CA476600752 | DYNC2H1 | c.4711T>C (p.Leu1571=) c.*2256T>C (n.*2256T>C) c.2205+31578T>C (n.2205+31578T>C) c.4093T>C (p.Leu1365=) | gnomAD v4 |
| 11 | g.103165997T>G | CA382239532 | DYNC2H1 | c.4711T>G (p.Leu1571Val) c.*2256T>G (n.*2256T>G) c.2205+31578T>G (n.2205+31578T>G) c.4093T>G (p.Leu1365Val) | |
| 11 | g.103165998T>A | CA382239533 | DYNC2H1 | c.4712T>A (p.Leu1571Ter) c.*2257T>A (n.*2257T>A) c.2205+31579T>A (n.2205+31579T>A) c.4094T>A (p.Leu1365Ter) | |
| 11 | g.103165998T>C | CA382239534 | DYNC2H1 | c.4712T>C (p.Leu1571Ser) c.*2257T>C (n.*2257T>C) c.2205+31579T>C (n.2205+31579T>C) c.4094T>C (p.Leu1365Ser) | |
| 11 | g.103165998T>G | CA382239535 | DYNC2H1 | c.4712T>G (p.Leu1571Ter) c.*2257T>G (n.*2257T>G) c.2205+31579T>G (n.2205+31579T>G) c.4094T>G (p.Leu1365Ter) | |
| 11 | g.103165999A= | CA1996410771 | DYNC2H1 | c.4713A= (p.Leu1571=) c.*2258A= (n.*2258A=) c.2205+31580A= (n.2205+31580A=) c.4095A= (p.Leu1365=) | |
| 11 | g.103165999A>C | CA382239536 | DYNC2H1 | c.4713A>C (p.Leu1571Phe) c.*2258A>C (n.*2258A>C) c.2205+31580A>C (n.2205+31580A>C) c.4095A>C (p.Leu1365Phe) | |
| 11 | g.103165999A>G | CA476600754 | DYNC2H1 | c.4713A>G (p.Leu1571=) c.*2258A>G (n.*2258A>G) c.2205+31580A>G (n.2205+31580A>G) c.4095A>G (p.Leu1365=) | dbSNP gnomAD v4 |
| 11 | g.103165999A>T | CA382239537 | DYNC2H1 | c.4713A>T (p.Leu1571Phe) c.*2258A>T (n.*2258A>T) c.2205+31580A>T (n.2205+31580A>T) c.4095A>T (p.Leu1365Phe) | |
| 11 | g.103166000G>A | CA382239538 | DYNC2H1 | c.4714G>A (p.Glu1572Lys) c.*2259G>A (n.*2259G>A) c.2205+31581G>A (n.2205+31581G>A) c.4096G>A (p.Glu1366Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103166000G>C | CA382239540 | DYNC2H1 | c.4714G>C (p.Glu1572Gln) c.*2259G>C (n.*2259G>C) c.2205+31581G>C (n.2205+31581G>C) c.4096G>C (p.Glu1366Gln) | COSMIC |
| 11 | g.103166000G= | CA1996410772 | DYNC2H1 | c.4714G= (p.Glu1572=) c.*2259G= (n.*2259G=) c.2205+31581G= (n.2205+31581G=) c.4096G= (p.Glu1366=) | |
| 11 | g.103166000G>T | CA382239539 | DYNC2H1 | c.4714G>T (p.Glu1572Ter) c.*2259G>T (n.*2259G>T) c.2205+31581G>T (n.2205+31581G>T) c.4096G>T (p.Glu1366Ter) | |
| 11 | g.103166001A>C | CA382239541 | DYNC2H1 | c.4715A>C (p.Glu1572Ala) c.*2260A>C (n.*2260A>C) c.2205+31582A>C (n.2205+31582A>C) c.4097A>C (p.Glu1366Ala) | |
| 11 | g.103166001A>G | CA382239542 | DYNC2H1 | c.4715A>G (p.Glu1572Gly) c.*2260A>G (n.*2260A>G) c.2205+31582A>G (n.2205+31582A>G) c.4097A>G (p.Glu1366Gly) | gnomAD v4 |
| 11 | g.103166001A>T | CA382239543 | DYNC2H1 | c.4715A>T (p.Glu1572Val) c.*2260A>T (n.*2260A>T) c.2205+31582A>T (n.2205+31582A>T) c.4097A>T (p.Glu1366Val) | |
| 11 | g.103166002G>A | CA476600756 | DYNC2H1 | c.4716G>A (p.Glu1572=) c.*2261G>A (n.*2261G>A) c.2205+31583G>A (n.2205+31583G>A) c.4098G>A (p.Glu1366=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103166002G>C | CA382239544 | DYNC2H1 | c.4716G>C (p.Glu1572Asp) c.*2261G>C (n.*2261G>C) c.2205+31583G>C (n.2205+31583G>C) c.4098G>C (p.Glu1366Asp) | |
| 11 | g.103166002G= | CA1996410773 | DYNC2H1 | c.4716G= (p.Glu1572=) c.*2261G= (n.*2261G=) c.2205+31583G= (n.2205+31583G=) c.4098G= (p.Glu1366=) | |
| 11 | g.103166002G>T | CA382239545 | DYNC2H1 | c.4716G>T (p.Glu1572Asp) c.*2261G>T (n.*2261G>T) c.2205+31583G>T (n.2205+31583G>T) c.4098G>T (p.Glu1366Asp) | |
| 11 | g.103166003C>A | CA382239546 | DYNC2H1 | c.4717C>A (p.Gln1573Lys) c.*2262C>A (n.*2262C>A) c.2205+31584C>A (n.2205+31584C>A) c.4099C>A (p.Gln1367Lys) | |
| 11 | g.103166003C>G | CA382239547 | DYNC2H1 | c.4717C>G (p.Gln1573Glu) c.*2262C>G (n.*2262C>G) c.2205+31584C>G (n.2205+31584C>G) c.4099C>G (p.Gln1367Glu) | |
| 11 | g.103166003C>T | CA382239548 | DYNC2H1 | c.4717C>T (p.Gln1573Ter) c.*2262C>T (n.*2262C>T) c.2205+31584C>T (n.2205+31584C>T) c.4099C>T (p.Gln1367Ter) | gnomAD v4 |
| 11 | g.103166004A= | CA1996410774 | DYNC2H1 | c.4718A= (p.Gln1573=) c.*2263A= (n.*2263A=) c.2205+31585A= (n.2205+31585A=) c.4100A= (p.Gln1367=) | |
| 11 | g.103166004A>C | CA382239549 | DYNC2H1 | c.4718A>C (p.Gln1573Pro) c.*2263A>C (n.*2263A>C) c.2205+31585A>C (n.2205+31585A>C) c.4100A>C (p.Gln1367Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103166004A>G | CA382239550 | DYNC2H1 | c.4718A>G (p.Gln1573Arg) c.*2263A>G (n.*2263A>G) c.2205+31585A>G (n.2205+31585A>G) c.4100A>G (p.Gln1367Arg) | |
| 11 | g.103166004A>T | CA382239551 | DYNC2H1 | c.4718A>T (p.Gln1573Leu) c.*2263A>T (n.*2263A>T) c.2205+31585A>T (n.2205+31585A>T) c.4100A>T (p.Gln1367Leu) | |
| 11 | g.103166005A= | CA1996410775 | DYNC2H1 | c.4719A= (p.Gln1573=) c.*2264A= (n.*2264A=) c.2205+31586A= (n.2205+31586A=) c.4101A= (p.Gln1367=) | |
| 11 | g.103166005A>C | CA382239552 | DYNC2H1 | c.4719A>C (p.Gln1573His) c.*2264A>C (n.*2264A>C) c.2205+31586A>C (n.2205+31586A>C) c.4101A>C (p.Gln1367His) | |
| 11 | g.103166005A>G | CA6253617 | DYNC2H1 | c.4719A>G (p.Gln1573=) c.*2264A>G (n.*2264A>G) c.2205+31586A>G (n.2205+31586A>G) c.4101A>G (p.Gln1367=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103166005A>T | CA382239553 | DYNC2H1 | c.4719A>T (p.Gln1573His) c.*2264A>T (n.*2264A>T) c.2205+31586A>T (n.2205+31586A>T) c.4101A>T (p.Gln1367His) | COSMIC |
| 11 | g.103166006T>A | CA382239554 | DYNC2H1 | c.4720T>A (p.Tyr1574Asn) c.*2265T>A (n.*2265T>A) c.2205+31587T>A (n.2205+31587T>A) c.4102T>A (p.Tyr1368Asn) | |
| 11 | g.103166006T>C | CA382239556 | DYNC2H1 | c.4720T>C (p.Tyr1574His) c.*2265T>C (n.*2265T>C) c.2205+31587T>C (n.2205+31587T>C) c.4102T>C (p.Tyr1368His) | |
| 11 | g.103166006T>G | CA382239555 | DYNC2H1 | c.4720T>G (p.Tyr1574Asp) c.*2265T>G (n.*2265T>G) c.2205+31587T>G (n.2205+31587T>G) c.4102T>G (p.Tyr1368Asp) | |
| 11 | g.103166007A>C | CA382239557 | DYNC2H1 | c.4721A>C (p.Tyr1574Ser) c.*2266A>C (n.*2266A>C) c.2205+31588A>C (n.2205+31588A>C) c.4103A>C (p.Tyr1368Ser) | |
| 11 | g.103166007A>G | CA382239559 | DYNC2H1 | c.4721A>G (p.Tyr1574Cys) c.*2266A>G (n.*2266A>G) c.2205+31588A>G (n.2205+31588A>G) c.4103A>G (p.Tyr1368Cys) | |
| 11 | g.103166007A>T | CA382239558 | DYNC2H1 | c.4721A>T (p.Tyr1574Phe) c.*2266A>T (n.*2266A>T) c.2205+31588A>T (n.2205+31588A>T) c.4103A>T (p.Tyr1368Phe) | |
| 11 | g.103166008T>A | CA382239560 | DYNC2H1 | c.4722T>A (p.Tyr1574Ter) c.*2267T>A (n.*2267T>A) c.2205+31589T>A (n.2205+31589T>A) c.4104T>A (p.Tyr1368Ter) | |
| 11 | g.103166008T>C | CA476600761 | DYNC2H1 | c.4722T>C (p.Tyr1574=) c.*2267T>C (n.*2267T>C) c.2205+31589T>C (n.2205+31589T>C) c.4104T>C (p.Tyr1368=) | |
| 11 | g.103166008T>G | CA382239561 | DYNC2H1 | c.4722T>G (p.Tyr1574Ter) c.*2267T>G (n.*2267T>G) c.2205+31589T>G (n.2205+31589T>G) c.4104T>G (p.Tyr1368Ter) | |
| 11 | g.103166009A= | CA1996410776 | DYNC2H1 | c.4723A= (p.Thr1575=) c.*2268A= (n.*2268A=) c.2205+31590A= (n.2205+31590A=) c.4105A= (p.Thr1369=) | |
| 11 | g.103166009A>C | CA6253618 | DYNC2H1 | c.4723A>C (p.Thr1575Pro) c.*2268A>C (n.*2268A>C) c.2205+31590A>C (n.2205+31590A>C) c.4105A>C (p.Thr1369Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103166009A>G | CA382239562 | DYNC2H1 | c.4723A>G (p.Thr1575Ala) c.*2268A>G (n.*2268A>G) c.2205+31590A>G (n.2205+31590A>G) c.4105A>G (p.Thr1369Ala) | gnomAD v4 |
| 11 | g.103166009A>T | CA382239563 | DYNC2H1 | c.4723A>T (p.Thr1575Ser) c.*2268A>T (n.*2268A>T) c.2205+31590A>T (n.2205+31590A>T) c.4105A>T (p.Thr1369Ser) | |
| 11 | g.103166009_103166010delinsAC | CA1996410777 | DYNC2H1 | c.4723_4724delinsAC (p.Thr1575=) c.*2268_*2269delinsAC (n.*2268_*2269delinsAC) c.2205+31590_2205+31591delinsAC (n.2205+31590_2205+31591delinsAC) c.4105_4106delinsAC (p.Thr1369=) | |
| 11 | g.103166010del | CA670954221 | DYNC2H1 | c.4724del (p.Thr1575IlefsTer25) c.*2269del (n.*2269del) c.2205+31591del (n.2205+31591del) c.4106del (p.Thr1369IlefsTer25) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103166010C>A | CA382239564 | DYNC2H1 | c.4724C>A (p.Thr1575Asn) c.*2269C>A (n.*2269C>A) c.2205+31591C>A (n.2205+31591C>A) c.4106C>A (p.Thr1369Asn) | gnomAD v4 |
| 11 | g.103166010C>G | CA382239565 | DYNC2H1 | c.4724C>G (p.Thr1575Ser) c.*2269C>G (n.*2269C>G) c.2205+31591C>G (n.2205+31591C>G) c.4106C>G (p.Thr1369Ser) | gnomAD v4 |
| 11 | g.103166010C>T | CA382239566 | DYNC2H1 | c.4724C>T (p.Thr1575Ile) c.*2269C>T (n.*2269C>T) c.2205+31591C>T (n.2205+31591C>T) c.4106C>T (p.Thr1369Ile) | gnomAD v4 |
| 11 | g.103166011T>A | CA476600763 | DYNC2H1 | c.4725T>A (p.Thr1575=) c.*2270T>A (n.*2270T>A) c.2205+31592T>A (n.2205+31592T>A) c.4107T>A (p.Thr1369=) | |
| 11 | g.103166011T>C | CA476600764 | DYNC2H1 | c.4725T>C (p.Thr1575=) c.*2270T>C (n.*2270T>C) c.2205+31592T>C (n.2205+31592T>C) c.4107T>C (p.Thr1369=) | gnomAD v4 |
| 11 | g.103166011T>G | CA476600765 | DYNC2H1 | c.4725T>G (p.Thr1575=) c.*2270T>G (n.*2270T>G) c.2205+31592T>G (n.2205+31592T>G) c.4107T>G (p.Thr1369=) | |
| 11 | g.103166012A= | CA1996410778 | DYNC2H1 | c.4726A= (p.Asn1576=) c.*2271A= (n.*2271A=) c.2205+31593A= (n.2205+31593A=) c.4108A= (p.Asn1370=) | |
| 11 | g.103166012A>C | CA382239567 | DYNC2H1 | c.4726A>C (p.Asn1576His) c.*2271A>C (n.*2271A>C) c.2205+31593A>C (n.2205+31593A>C) c.4108A>C (p.Asn1370His) | dbSNP |
| 11 | g.103166012A>G | CA382239568 | DYNC2H1 | c.4726A>G (p.Asn1576Asp) c.*2271A>G (n.*2271A>G) c.2205+31593A>G (n.2205+31593A>G) c.4108A>G (p.Asn1370Asp) | |
| 11 | g.103166012A>T | CA382239569 | DYNC2H1 | c.4726A>T (p.Asn1576Tyr) c.*2271A>T (n.*2271A>T) c.2205+31593A>T (n.2205+31593A>T) c.4108A>T (p.Asn1370Tyr) | |
| 11 | g.103166013A>C | CA382239570 | DYNC2H1 | c.4727A>C (p.Asn1576Thr) c.*2272A>C (n.*2272A>C) c.2205+31594A>C (n.2205+31594A>C) c.4109A>C (p.Asn1370Thr) | |
| 11 | g.103166013A>G | CA382239571 | DYNC2H1 | c.4727A>G (p.Asn1576Ser) c.*2272A>G (n.*2272A>G) c.2205+31594A>G (n.2205+31594A>G) c.4109A>G (p.Asn1370Ser) | gnomAD v4 |
| 11 | g.103166013A>T | CA382239572 | DYNC2H1 | c.4727A>T (p.Asn1576Ile) c.*2272A>T (n.*2272A>T) c.2205+31594A>T (n.2205+31594A>T) c.4109A>T (p.Asn1370Ile) | |
| 11 | g.103166014C>A | CA382239573 | DYNC2H1 | c.4728C>A (p.Asn1576Lys) c.*2273C>A (n.*2273C>A) c.2205+31595C>A (n.2205+31595C>A) c.4110C>A (p.Asn1370Lys) | |
| 11 | g.103166014C= | CA1996410779 | DYNC2H1 | c.4728C= (p.Asn1576=) c.*2273C= (n.*2273C=) c.2205+31595C= (n.2205+31595C=) c.4110C= (p.Asn1370=) | |
| 11 | g.103166014C>G | CA6253619 | DYNC2H1 | c.4728C>G (p.Asn1576Lys) c.*2273C>G (n.*2273C>G) c.2205+31595C>G (n.2205+31595C>G) c.4110C>G (p.Asn1370Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103166014C>T | CA476600769 | DYNC2H1 | c.4728C>T (p.Asn1576=) c.*2273C>T (n.*2273C>T) c.2205+31595C>T (n.2205+31595C>T) c.4110C>T (p.Asn1370=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103166015A= | CA1996410780 | DYNC2H1 | c.4729A= (p.Ile1577=) c.*2274A= (n.*2274A=) c.2205+31596A= (n.2205+31596A=) c.4111A= (p.Ile1371=) | |
| 11 | g.103166015A>C | CA382239574 | DYNC2H1 | c.4729A>C (p.Ile1577Leu) c.*2274A>C (n.*2274A>C) c.2205+31596A>C (n.2205+31596A>C) c.4111A>C (p.Ile1371Leu) | |
| 11 | g.103166015A>G | CA227396076 | DYNC2H1 | c.4729A>G (p.Ile1577Val) c.*2274A>G (n.*2274A>G) c.2205+31596A>G (n.2205+31596A>G) c.4111A>G (p.Ile1371Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103166015A>T | CA382239575 | DYNC2H1 | c.4729A>T (p.Ile1577Phe) c.*2274A>T (n.*2274A>T) c.2205+31596A>T (n.2205+31596A>T) c.4111A>T (p.Ile1371Phe) | |
| 11 | g.103166016T>A | CA382239576 | DYNC2H1 | c.4730T>A (p.Ile1577Asn) c.*2275T>A (n.*2275T>A) c.2205+31597T>A (n.2205+31597T>A) c.4112T>A (p.Ile1371Asn) | |
| 11 | g.103166016T>C | CA382239577 | DYNC2H1 | c.4730T>C (p.Ile1577Thr) c.*2275T>C (n.*2275T>C) c.2205+31597T>C (n.2205+31597T>C) c.4112T>C (p.Ile1371Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103166016T>G | CA382239578 | DYNC2H1 | c.4730T>G (p.Ile1577Ser) c.*2275T>G (n.*2275T>G) c.2205+31597T>G (n.2205+31597T>G) c.4112T>G (p.Ile1371Ser) | |
| 11 | g.103166016T= | CA1996410781 | DYNC2H1 | c.4730T= (p.Ile1577=) c.*2275T= (n.*2275T=) c.2205+31597T= (n.2205+31597T=) c.4112T= (p.Ile1371=) | |
| 11 | g.103166017T>A | CA476600771 | DYNC2H1 | c.4731T>A (p.Ile1577=) c.*2276T>A (n.*2276T>A) c.2205+31598T>A (n.2205+31598T>A) c.4113T>A (p.Ile1371=) | |
| 11 | g.103166017T>C | CA476600772 | DYNC2H1 | c.4731T>C (p.Ile1577=) c.*2276T>C (n.*2276T>C) c.2205+31598T>C (n.2205+31598T>C) c.4113T>C (p.Ile1371=) | |
| 11 | g.103166017T>G | CA382239579 | DYNC2H1 | c.4731T>G (p.Ile1577Met) c.*2276T>G (n.*2276T>G) c.2205+31598T>G (n.2205+31598T>G) c.4113T>G (p.Ile1371Met) | gnomAD v4 |
| 11 | g.103166018G>A | CA382239580 | DYNC2H1 | c.4732G>A (p.Asp1578Asn) c.*2277G>A (n.*2277G>A) c.2205+31599G>A (n.2205+31599G>A) c.4114G>A (p.Asp1372Asn) | dbSNP gnomAD v2 |
| 11 | g.103166018G>C | CA382239581 | DYNC2H1 | c.4732G>C (p.Asp1578His) c.*2277G>C (n.*2277G>C) c.2205+31599G>C (n.2205+31599G>C) c.4114G>C (p.Asp1372His) | |
| 11 | g.103166018G= | CA1996410782 | DYNC2H1 | c.4732G= (p.Asp1578=) c.*2277G= (n.*2277G=) c.2205+31599G= (n.2205+31599G=) c.4114G= (p.Asp1372=) | |
| 11 | g.103166018G>T | CA382239582 | DYNC2H1 | c.4732G>T (p.Asp1578Tyr) c.*2277G>T (n.*2277G>T) c.2205+31599G>T (n.2205+31599G>T) c.4114G>T (p.Asp1372Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103166019A>C | CA382239584 | DYNC2H1 | c.4733A>C (p.Asp1578Ala) c.*2278A>C (n.*2278A>C) c.2205+31600A>C (n.2205+31600A>C) c.4115A>C (p.Asp1372Ala) | |
| 11 | g.103166019A>G | CA382239585 | DYNC2H1 | c.4733A>G (p.Asp1578Gly) c.*2278A>G (n.*2278A>G) c.2205+31600A>G (n.2205+31600A>G) c.4115A>G (p.Asp1372Gly) | gnomAD v4 |
| 11 | g.103166019A>T | CA382239583 | DYNC2H1 | c.4733A>T (p.Asp1578Val) c.*2278A>T (n.*2278A>T) c.2205+31600A>T (n.2205+31600A>T) c.4115A>T (p.Asp1372Val) | |
| 11 | g.103166020T>A | CA382239586 | DYNC2H1 | c.4734T>A (p.Asp1578Glu) c.*2279T>A (n.*2279T>A) c.2205+31601T>A (n.2205+31601T>A) c.4116T>A (p.Asp1372Glu) | |
| 11 | g.103166020T>C | CA476600774 | DYNC2H1 | c.4734T>C (p.Asp1578=) c.*2279T>C (n.*2279T>C) c.2205+31601T>C (n.2205+31601T>C) c.4116T>C (p.Asp1372=) | gnomAD v4 |
| 11 | g.103166020T>G | CA382239587 | DYNC2H1 | c.4734T>G (p.Asp1578Glu) c.*2279T>G (n.*2279T>G) c.2205+31601T>G (n.2205+31601T>G) c.4116T>G (p.Asp1372Glu) | |
| 11 | g.103166021A= | CA1996410783 | DYNC2H1 | c.4735A= (p.Thr1579=) c.*2280A= (n.*2280A=) c.2205+31602A= (n.2205+31602A=) c.4117A= (p.Thr1373=) | |
| 11 | g.103166021A>C | CA382239588 | DYNC2H1 | c.4735A>C (p.Thr1579Pro) c.*2280A>C (n.*2280A>C) c.2205+31602A>C (n.2205+31602A>C) c.4117A>C (p.Thr1373Pro) | |
| 11 | g.103166021A>G | CA382239589 | DYNC2H1 | c.4735A>G (p.Thr1579Ala) c.*2280A>G (n.*2280A>G) c.2205+31602A>G (n.2205+31602A>G) c.4117A>G (p.Thr1373Ala) | dbSNP gnomAD v4 |
| 11 | g.103166021A>T | CA382239590 | DYNC2H1 | c.4735A>T (p.Thr1579Ser) c.*2280A>T (n.*2280A>T) c.2205+31602A>T (n.2205+31602A>T) c.4117A>T (p.Thr1373Ser) | |
| 11 | g.103166022C>A | CA382239591 | DYNC2H1 | c.4736C>A (p.Thr1579Lys) c.*2281C>A (n.*2281C>A) c.2205+31603C>A (n.2205+31603C>A) c.4118C>A (p.Thr1373Lys) | dbSNP gnomAD v2 |
| 11 | g.103166022C= | CA1996410784 | DYNC2H1 | c.4736C= (p.Thr1579=) c.*2281C= (n.*2281C=) c.2205+31603C= (n.2205+31603C=) c.4118C= (p.Thr1373=) | |
| 11 | g.103166022C>G | CA382239592 | DYNC2H1 | c.4736C>G (p.Thr1579Arg) c.*2281C>G (n.*2281C>G) c.2205+31603C>G (n.2205+31603C>G) c.4118C>G (p.Thr1373Arg) | gnomAD v4 |
| 11 | g.103166022C>T | CA382239593 | DYNC2H1 | c.4736C>T (p.Thr1579Ile) c.*2281C>T (n.*2281C>T) c.2205+31603C>T (n.2205+31603C>T) c.4118C>T (p.Thr1373Ile) | gnomAD v4 |
| 11 | g.103166023A>C | CA476600775 | DYNC2H1 | c.4737A>C (p.Thr1579=) c.*2282A>C (n.*2282A>C) c.2205+31604A>C (n.2205+31604A>C) c.4119A>C (p.Thr1373=) | |
| 11 | g.103166023A>G | CA476600776 | DYNC2H1 | c.4737A>G (p.Thr1579=) c.*2282A>G (n.*2282A>G) c.2205+31604A>G (n.2205+31604A>G) c.4119A>G (p.Thr1373=) | gnomAD v4 |
| 11 | g.103166023A>T | CA476600777 | DYNC2H1 | c.4737A>T (p.Thr1579=) c.*2282A>T (n.*2282A>T) c.2205+31604A>T (n.2205+31604A>T) c.4119A>T (p.Thr1373=) | |
| 11 | g.103166024A= | CA1996410785 | DYNC2H1 | c.4738A= (p.Ser1580=) c.*2283A= (n.*2283A=) c.2205+31605A= (n.2205+31605A=) c.4120A= (p.Ser1374=) | |
| 11 | g.103166024A>C | CA382239594 | DYNC2H1 | c.4738A>C (p.Ser1580Arg) c.*2283A>C (n.*2283A>C) c.2205+31605A>C (n.2205+31605A>C) c.4120A>C (p.Ser1374Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103166024A>G | CA382239595 | DYNC2H1 | c.4738A>G (p.Ser1580Gly) c.*2283A>G (n.*2283A>G) c.2205+31605A>G (n.2205+31605A>G) c.4120A>G (p.Ser1374Gly) | gnomAD v4 |
| 11 | g.103166024A>T | CA382239596 | DYNC2H1 | c.4738A>T (p.Ser1580Cys) c.*2283A>T (n.*2283A>T) c.2205+31605A>T (n.2205+31605A>T) c.4120A>T (p.Ser1374Cys) | |
| 11 | g.103166025G>A | CA382239598 | DYNC2H1 | c.4739G>A (p.Ser1580Asn) c.*2284G>A (n.*2284G>A) c.2205+31606G>A (n.2205+31606G>A) c.4121G>A (p.Ser1374Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103166025G>C | CA382239599 | DYNC2H1 | c.4739G>C (p.Ser1580Thr) c.*2284G>C (n.*2284G>C) c.2205+31606G>C (n.2205+31606G>C) c.4121G>C (p.Ser1374Thr) | |
| 11 | g.103166025G= | CA1996410786 | DYNC2H1 | c.4739G= (p.Ser1580=) c.*2284G= (n.*2284G=) c.2205+31606G= (n.2205+31606G=) c.4121G= (p.Ser1374=) | |
| 11 | g.103166025G>T | CA382239597 | DYNC2H1 | c.4739G>T (p.Ser1580Ile) c.*2284G>T (n.*2284G>T) c.2205+31606G>T (n.2205+31606G>T) c.4121G>T (p.Ser1374Ile) | |
| 11 | g.103166026T>A | CA382239600 | DYNC2H1 | c.4740T>A (p.Ser1580Arg) c.*2285T>A (n.*2285T>A) c.2205+31607T>A (n.2205+31607T>A) c.4122T>A (p.Ser1374Arg) | |
| 11 | g.103166026T>C | CA476600780 | DYNC2H1 | c.4740T>C (p.Ser1580=) c.*2285T>C (n.*2285T>C) c.2205+31607T>C (n.2205+31607T>C) c.4122T>C (p.Ser1374=) | gnomAD v4 |
| 11 | g.103166026T>G | CA382239601 | DYNC2H1 | c.4740T>G (p.Ser1580Arg) c.*2285T>G (n.*2285T>G) c.2205+31607T>G (n.2205+31607T>G) c.4122T>G (p.Ser1374Arg) | |
| 11 | g.103166027T>A | CA382239602 | DYNC2H1 | c.4741T>A (p.Ser1581Thr) c.*2286T>A (n.*2286T>A) c.2205+31608T>A (n.2205+31608T>A) c.4123T>A (p.Ser1375Thr) | |
| 11 | g.103166027T>C | CA382239603 | DYNC2H1 | c.4741T>C (p.Ser1581Pro) c.*2286T>C (n.*2286T>C) c.2205+31608T>C (n.2205+31608T>C) c.4123T>C (p.Ser1375Pro) | |
| 11 | g.103166027T>G | CA382239604 | DYNC2H1 | c.4741T>G (p.Ser1581Ala) c.*2286T>G (n.*2286T>G) c.2205+31608T>G (n.2205+31608T>G) c.4123T>G (p.Ser1375Ala) | |
| 11 | g.103166028C>A | CA382239607 | DYNC2H1 | c.4742C>A (p.Ser1581Tyr) c.*2287C>A (n.*2287C>A) c.2205+31609C>A (n.2205+31609C>A) c.4124C>A (p.Ser1375Tyr) | |
| 11 | g.103166028C>G | CA382239605 | DYNC2H1 | c.4742C>G (p.Ser1581Cys) c.*2287C>G (n.*2287C>G) c.2205+31609C>G (n.2205+31609C>G) c.4124C>G (p.Ser1375Cys) | |
| 11 | g.103166028C>T | CA382239606 | DYNC2H1 | c.4742C>T (p.Ser1581Phe) c.*2287C>T (n.*2287C>T) c.2205+31609C>T (n.2205+31609C>T) c.4124C>T (p.Ser1375Phe) | |
| 11 | g.103166029T>A | CA476600783 | DYNC2H1 | c.4743T>A (p.Ser1581=) c.*2288T>A (n.*2288T>A) c.2205+31610T>A (n.2205+31610T>A) c.4125T>A (p.Ser1375=) | |
| 11 | g.103166029T>C | CA476600784 | DYNC2H1 | c.4743T>C (p.Ser1581=) c.*2288T>C (n.*2288T>C) c.2205+31610T>C (n.2205+31610T>C) c.4125T>C (p.Ser1375=) | gnomAD v4 COSMIC |
| 11 | g.103166029T>G | CA476600782 | DYNC2H1 | c.4743T>G (p.Ser1581=) c.*2288T>G (n.*2288T>G) c.2205+31610T>G (n.2205+31610T>G) c.4125T>G (p.Ser1375=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103166029T= | CA1996410787 | DYNC2H1 | c.4743T= (p.Ser1581=) c.*2288T= (n.*2288T=) c.2205+31610T= (n.2205+31610T=) c.4125T= (p.Ser1375=) | |
| 11 | g.103166030G>A | CA382239608 | DYNC2H1 | c.4744G>A (p.Glu1582Lys) c.*2289G>A (n.*2289G>A) c.2205+31611G>A (n.2205+31611G>A) c.4126G>A (p.Glu1376Lys) | |
| 11 | g.103166030G>C | CA382239609 | DYNC2H1 | c.4744G>C (p.Glu1582Gln) c.*2289G>C (n.*2289G>C) c.2205+31611G>C (n.2205+31611G>C) c.4126G>C (p.Glu1376Gln) | |
| 11 | g.103166030G>T | CA382239610 | DYNC2H1 | c.4744G>T (p.Glu1582Ter) c.*2289G>T (n.*2289G>T) c.2205+31611G>T (n.2205+31611G>T) c.4126G>T (p.Glu1376Ter) | |
| 11 | g.103166031A>C | CA382239611 | DYNC2H1 | c.4745A>C (p.Glu1582Ala) c.*2290A>C (n.*2290A>C) c.2205+31612A>C (n.2205+31612A>C) c.4127A>C (p.Glu1376Ala) | |
| 11 | g.103166031A>G | CA382239612 | DYNC2H1 | c.4745A>G (p.Glu1582Gly) c.*2290A>G (n.*2290A>G) c.2205+31612A>G (n.2205+31612A>G) c.4127A>G (p.Glu1376Gly) | gnomAD v4 |
| 11 | g.103166031A>T | CA382239613 | DYNC2H1 | c.4745A>T (p.Glu1582Val) c.*2290A>T (n.*2290A>T) c.2205+31612A>T (n.2205+31612A>T) c.4127A>T (p.Glu1376Val) | |
| 11 | g.103166032G>A | CA476600787 | DYNC2H1 | c.4746G>A (p.Glu1582=) c.*2291G>A (n.*2291G>A) c.2205+31613G>A (n.2205+31613G>A) c.4128G>A (p.Glu1376=) | |
| 11 | g.103166032G>C | CA382239615 | DYNC2H1 | c.4746G>C (p.Glu1582Asp) c.*2291G>C (n.*2291G>C) c.2205+31613G>C (n.2205+31613G>C) c.4128G>C (p.Glu1376Asp) | |
| 11 | g.103166032G>T | CA382239614 | DYNC2H1 | c.4746G>T (p.Glu1582Asp) c.*2291G>T (n.*2291G>T) c.2205+31613G>T (n.2205+31613G>T) c.4128G>T (p.Glu1376Asp) | |
| 11 | g.103166033G>A | CA382239616 | DYNC2H1 | c.4747G>A (p.Asp1583Asn) c.*2292G>A (n.*2292G>A) c.2205+31614G>A (n.2205+31614G>A) c.4129G>A (p.Asp1377Asn) | gnomAD v4 |
| 11 | g.103166033G>C | CA382239618 | DYNC2H1 | c.4747G>C (p.Asp1583His) c.*2292G>C (n.*2292G>C) c.2205+31614G>C (n.2205+31614G>C) c.4129G>C (p.Asp1377His) | |
| 11 | g.103166033G>T | CA382239617 | DYNC2H1 | c.4747G>T (p.Asp1583Tyr) c.*2292G>T (n.*2292G>T) c.2205+31614G>T (n.2205+31614G>T) c.4129G>T (p.Asp1377Tyr) | |
| 11 | g.103166034A>C | CA382239619 | DYNC2H1 | c.4748A>C (p.Asp1583Ala) c.*2293A>C (n.*2293A>C) c.2205+31615A>C (n.2205+31615A>C) c.4130A>C (p.Asp1377Ala) | |
| 11 | g.103166034A>G | CA382239620 | DYNC2H1 | c.4748A>G (p.Asp1583Gly) c.*2293A>G (n.*2293A>G) c.2205+31615A>G (n.2205+31615A>G) c.4130A>G (p.Asp1377Gly) | gnomAD v4 |
| 11 | g.103166034A>T | CA382239621 | DYNC2H1 | c.4748A>T (p.Asp1583Val) c.*2293A>T (n.*2293A>T) c.2205+31615A>T (n.2205+31615A>T) c.4130A>T (p.Asp1377Val) | |
| 11 | g.103166035del | CA2793430111 | DYNC2H1 | c.4749del (p.Pro1584GlnfsTer16) c.*2294del (n.*2294del) c.2205+31616del (n.2205+31616del) c.4131del (p.Pro1378GlnfsTer16) | |
| 11 | g.103166035T>A | CA382239622 | DYNC2H1 | c.4749T>A (p.Asp1583Glu) c.*2294T>A (n.*2294T>A) c.2205+31616T>A (n.2205+31616T>A) c.4131T>A (p.Asp1377Glu) | |
| 11 | g.103166035T>C | CA476600789 | DYNC2H1 | c.4749T>C (p.Asp1583=) c.*2294T>C (n.*2294T>C) c.2205+31616T>C (n.2205+31616T>C) c.4131T>C (p.Asp1377=) | |
| 11 | g.103166035T>G | CA382239623 | DYNC2H1 | c.4749T>G (p.Asp1583Glu) c.*2294T>G (n.*2294T>G) c.2205+31616T>G (n.2205+31616T>G) c.4131T>G (p.Asp1377Glu) | |
| 11 | g.103166036C>A | CA382239624 | DYNC2H1 | c.4750C>A (p.Pro1584Thr) c.*2295C>A (n.*2295C>A) c.2205+31617C>A (n.2205+31617C>A) c.4132C>A (p.Pro1378Thr) | gnomAD v4 |
| 11 | g.103166036C>G | CA382239625 | DYNC2H1 | c.4750C>G (p.Pro1584Ala) c.*2295C>G (n.*2295C>G) c.2205+31617C>G (n.2205+31617C>G) c.4132C>G (p.Pro1378Ala) | |
| 11 | g.103166036C>T | CA382239626 | DYNC2H1 | c.4750C>T (p.Pro1584Ser) c.*2295C>T (n.*2295C>T) c.2205+31617C>T (n.2205+31617C>T) c.4132C>T (p.Pro1378Ser) | |
| 11 | g.103166037del | CA2615743813 | DYNC2H1 | c.4751del (p.Pro1584GlnfsTer16) c.*2296del (n.*2296del) c.2205+31618del (n.2205+31618del) c.4133del (p.Pro1378GlnfsTer16) | gnomAD v4 |
| 11 | g.103166037C>A | CA382239627 | DYNC2H1 | c.4751C>A (p.Pro1584Gln) c.*2296C>A (n.*2296C>A) c.2205+31618C>A (n.2205+31618C>A) c.4133C>A (p.Pro1378Gln) | |
| 11 | g.103166037C= | CA1996410788 | DYNC2H1 | c.4751C= (p.Pro1584=) c.*2296C= (n.*2296C=) c.2205+31618C= (n.2205+31618C=) c.4133C= (p.Pro1378=) | |
| 11 | g.103166037C>G | CA382239628 | DYNC2H1 | c.4751C>G (p.Pro1584Arg) c.*2296C>G (n.*2296C>G) c.2205+31618C>G (n.2205+31618C>G) c.4133C>G (p.Pro1378Arg) | |
| 11 | g.103166037C>T | CA382239629 | DYNC2H1 | c.4751C>T (p.Pro1584Leu) c.*2296C>T (n.*2296C>T) c.2205+31618C>T (n.2205+31618C>T) c.4133C>T (p.Pro1378Leu) | dbSNP |
| 11 | g.103166038A= | CA1996410789 | DYNC2H1 | c.4752A= (p.Pro1584=) c.*2297A= (n.*2297A=) c.2205+31619A= (n.2205+31619A=) c.4134A= (p.Pro1378=) | |
| 11 | g.103166038A>C | CA476600791 | DYNC2H1 | c.4752A>C (p.Pro1584=) c.*2297A>C (n.*2297A>C) c.2205+31619A>C (n.2205+31619A>C) c.4134A>C (p.Pro1378=) | |
| 11 | g.103166038A>G | CA476600792 | DYNC2H1 | c.4752A>G (p.Pro1584=) c.*2297A>G (n.*2297A>G) c.2205+31619A>G (n.2205+31619A>G) c.4134A>G (p.Pro1378=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103166038A>T | CA476600793 | DYNC2H1 | c.4752A>T (p.Pro1584=) c.*2297A>T (n.*2297A>T) c.2205+31619A>T (n.2205+31619A>T) c.4134A>T (p.Pro1378=) | |
| 11 | g.103166039G>A | CA382239632 | DYNC2H1 | c.4753G>A (p.Gly1585Arg) c.*2298G>A (n.*2298G>A) c.2205+31620G>A (n.2205+31620G>A) c.4135G>A (p.Gly1379Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103166039G>C | CA382239631 | DYNC2H1 | c.4753G>C (p.Gly1585Arg) c.*2298G>C (n.*2298G>C) c.2205+31620G>C (n.2205+31620G>C) c.4135G>C (p.Gly1379Arg) | |
| 11 | g.103166039G= | CA1996410790 | DYNC2H1 | c.4753G= (p.Gly1585=) c.*2298G= (n.*2298G=) c.2205+31620G= (n.2205+31620G=) c.4135G= (p.Gly1379=) | |
| 11 | g.103166039G>T | CA382239630 | DYNC2H1 | c.4753G>T (p.Gly1585Trp) c.*2298G>T (n.*2298G>T) c.2205+31620G>T (n.2205+31620G>T) c.4135G>T (p.Gly1379Trp) | gnomAD v4 |
| 11 | g.103166041del | CA2615743814 | DYNC2H1 | c.4755del (p.Asn1586IlefsTer14) c.*2300del (n.*2300del) c.2205+31622del (n.2205+31622del) c.4137del (p.Asn1380IlefsTer14) | gnomAD v4 |
| 11 | g.103166040G>A | CA382239633 | DYNC2H1 | c.4754G>A (p.Gly1585Glu) c.*2299G>A (n.*2299G>A) c.2205+31621G>A (n.2205+31621G>A) c.4136G>A (p.Gly1379Glu) | gnomAD v4 |
| 11 | g.103166040G>C | CA382239634 | DYNC2H1 | c.4754G>C (p.Gly1585Ala) c.*2299G>C (n.*2299G>C) c.2205+31621G>C (n.2205+31621G>C) c.4136G>C (p.Gly1379Ala) | |
| 11 | g.103166040G>T | CA382239635 | DYNC2H1 | c.4754G>T (p.Gly1585Val) c.*2299G>T (n.*2299G>T) c.2205+31621G>T (n.2205+31621G>T) c.4136G>T (p.Gly1379Val) | |
| 11 | g.103166041G>A | CA6253620 | DYNC2H1 | c.4755G>A (p.Gly1585=) c.*2300G>A (n.*2300G>A) c.2205+31622G>A (n.2205+31622G>A) c.4137G>A (p.Gly1379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103166041G>C | CA476600795 | DYNC2H1 | c.4755G>C (p.Gly1585=) c.*2300G>C (n.*2300G>C) c.2205+31622G>C (n.2205+31622G>C) c.4137G>C (p.Gly1379=) | gnomAD v4 |
| 11 | g.103166041G= | CA1996410791 | DYNC2H1 | c.4755G= (p.Gly1585=) c.*2300G= (n.*2300G=) c.2205+31622G= (n.2205+31622G=) c.4137G= (p.Gly1379=) | |
| 11 | g.103166041G>T | CA476600796 | DYNC2H1 | c.4755G>T (p.Gly1585=) c.*2300G>T (n.*2300G>T) c.2205+31622G>T (n.2205+31622G>T) c.4137G>T (p.Gly1379=) |