Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21880878A>C | CA366964222 | DNAH11 | c.12372A>C (p.Leu4124Phe) c.12393A>C (p.Leu4131Phe) | |
7 | g.21880878A>G | CA453967962 | DNAH11 | c.12372A>G (p.Leu4124=) c.12393A>G (p.Leu4131=) | |
7 | g.21880878A>T | CA366964221 | DNAH11 | c.12372A>T (p.Leu4124Phe) c.12393A>T (p.Leu4131Phe) | |
7 | g.21880879G>A | CA155158848 | DNAH11 | c.12373G>A (p.Glu4125Lys) c.12394G>A (p.Glu4132Lys) | dbSNP gnomAD v4 |
7 | g.21880879G>C | CA366964223 | DNAH11 | c.12373G>C (p.Glu4125Gln) c.12394G>C (p.Glu4132Gln) | gnomAD v4 |
7 | g.21880879G= | CA1693712860 | DNAH11 | c.12373G= (p.Glu4125=) c.12394G= (p.Glu4132=) | |
7 | g.21880879G>T | CA366964224 | DNAH11 | c.12373G>T (p.Glu4125Ter) c.12394G>T (p.Glu4132Ter) | |
7 | g.21880880A>C | CA366964225 | DNAH11 | c.12374A>C (p.Glu4125Ala) c.12395A>C (p.Glu4132Ala) | |
7 | g.21880880A>G | CA366964226 | DNAH11 | c.12374A>G (p.Glu4125Gly) c.12395A>G (p.Glu4132Gly) | |
7 | g.21880880A>T | CA366964227 | DNAH11 | c.12374A>T (p.Glu4125Val) c.12395A>T (p.Glu4132Val) | |
7 | g.21880881G>A | CA453967963 | DNAH11 | c.12375G>A (p.Glu4125=) c.12396G>A (p.Glu4132=) | ClinVar |
7 | g.21880881G>C | CA10623643 | DNAH11 | c.12375G>C (p.Glu4125Asp) c.12396G>C (p.Glu4132Asp) | ClinVar dbSNP |
7 | g.21880881G= | CA1693712865 | DNAH11 | c.12375G= (p.Glu4125=) c.12396G= (p.Glu4132=) | |
7 | g.21880881G>T | CA366964228 | DNAH11 | c.12375G>T (p.Glu4125Asp) c.12396G>T (p.Glu4132Asp) | |
7 | g.21880882G>A | CA4183046 | DNAH11 | c.12376G>A (p.Ala4126Thr) c.12397G>A (p.Ala4133Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880882G>C | CA366964229 | DNAH11 | c.12376G>C (p.Ala4126Pro) c.12397G>C (p.Ala4133Pro) | |
7 | g.21880882G= | CA1693712870 | DNAH11 | c.12376G= (p.Ala4126=) c.12397G= (p.Ala4133=) | |
7 | g.21880882G>T | CA366964230 | DNAH11 | c.12376G>T (p.Ala4126Ser) c.12397G>T (p.Ala4133Ser) | |
7 | g.21880883C>A | CA366964232 | DNAH11 | c.12377C>A (p.Ala4126Glu) c.12398C>A (p.Ala4133Glu) | |
7 | g.21880883C= | CA1693712873 | DNAH11 | c.12377C= (p.Ala4126=) c.12398C= (p.Ala4133=) | |
7 | g.21880883C>G | CA4183047 | DNAH11 | c.12377C>G (p.Ala4126Gly) c.12398C>G (p.Ala4133Gly) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.21880883C>T | CA366964231 | DNAH11 | c.12377C>T (p.Ala4126Val) c.12398C>T (p.Ala4133Val) | |
7 | g.21880884A>C | CA453967964 | DNAH11 | c.12378A>C (p.Ala4126=) c.12399A>C (p.Ala4133=) | |
7 | g.21880884A>G | CA453967965 | DNAH11 | c.12378A>G (p.Ala4126=) c.12399A>G (p.Ala4133=) | |
7 | g.21880884A>T | CA453967966 | DNAH11 | c.12378A>T (p.Ala4126=) c.12399A>T (p.Ala4133=) | |
7 | g.21880885A>C | CA366964233 | DNAH11 | c.12379A>C (p.Asn4127His) c.12400A>C (p.Asn4134His) | |
7 | g.21880885A>G | CA366964234 | DNAH11 | c.12379A>G (p.Asn4127Asp) c.12400A>G (p.Asn4134Asp) | |
7 | g.21880885A>T | CA366964235 | DNAH11 | c.12379A>T (p.Asn4127Tyr) c.12400A>T (p.Asn4134Tyr) | |
7 | g.21880886A>C | CA366964236 | DNAH11 | c.12380A>C (p.Asn4127Thr) c.12401A>C (p.Asn4134Thr) | |
7 | g.21880886A>G | CA366964237 | DNAH11 | c.12380A>G (p.Asn4127Ser) c.12401A>G (p.Asn4134Ser) | |
7 | g.21880886A>T | CA366964238 | DNAH11 | c.12380A>T (p.Asn4127Ile) c.12401A>T (p.Asn4134Ile) | |
7 | g.21880887C>A | CA366964239 | DNAH11 | c.12381C>A (p.Asn4127Lys) c.12402C>A (p.Asn4134Lys) | |
7 | g.21880887C= | CA1693712877 | DNAH11 | c.12381C= (p.Asn4127=) c.12402C= (p.Asn4134=) | |
7 | g.21880887C>G | CA366964240 | DNAH11 | c.12381C>G (p.Asn4127Lys) c.12402C>G (p.Asn4134Lys) | |
7 | g.21880887C>T | CA4183048 | DNAH11 | c.12381C>T (p.Asn4127=) c.12402C>T (p.Asn4134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880888T>A | CA366964241 | DNAH11 | c.12382T>A (p.Ser4128Thr) c.12403T>A (p.Ser4135Thr) | |
7 | g.21880888T>C | CA366964242 | DNAH11 | c.12382T>C (p.Ser4128Pro) c.12403T>C (p.Ser4135Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880888T>G | CA366964243 | DNAH11 | c.12382T>G (p.Ser4128Ala) c.12403T>G (p.Ser4135Ala) | |
7 | g.21880888T= | CA1693712880 | DNAH11 | c.12382T= (p.Ser4128=) c.12403T= (p.Ser4135=) | |
7 | g.21880889C>A | CA366964245 | DNAH11 | c.12383C>A (p.Ser4128Tyr) c.12404C>A (p.Ser4135Tyr) | gnomAD v4 |
7 | g.21880889C= | CA1693712882 | DNAH11 | c.12383C= (p.Ser4128=) c.12404C= (p.Ser4135=) | |
7 | g.21880889C>G | CA155158878 | DNAH11 | c.12383C>G (p.Ser4128Cys) c.12404C>G (p.Ser4135Cys) | dbSNP gnomAD v4 |
7 | g.21880889C>T | CA366964244 | DNAH11 | c.12383C>T (p.Ser4128Phe) c.12404C>T (p.Ser4135Phe) | |
7 | g.21880890T>A | CA453967967 | DNAH11 | c.12384T>A (p.Ser4128=) c.12405T>A (p.Ser4135=) | |
7 | g.21880890T>C | CA453967968 | DNAH11 | c.12384T>C (p.Ser4128=) c.12405T>C (p.Ser4135=) | |
7 | g.21880890T>G | CA453967969 | DNAH11 | c.12384T>G (p.Ser4128=) c.12405T>G (p.Ser4135=) | |
7 | g.21880891A= | CA1693712883 | DNAH11 | c.12385A= (p.Lys4129=) c.12406A= (p.Lys4136=) | |
7 | g.21880891A>C | CA366964246 | DNAH11 | c.12385A>C (p.Lys4129Gln) c.12406A>C (p.Lys4136Gln) | gnomAD v4 |
7 | g.21880891A>G | CA366964247 | DNAH11 | c.12385A>G (p.Lys4129Glu) c.12406A>G (p.Lys4136Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880891A>T | CA366964248 | DNAH11 | c.12385A>T (p.Lys4129Ter) c.12406A>T (p.Lys4136Ter) |