Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21880769A>C | CA366963992 | DNAH11 | c.12263A>C (p.His4088Pro) c.12284A>C (p.His4095Pro) | |
7 | g.21880769A>G | CA366963994 | DNAH11 | c.12263A>G (p.His4088Arg) c.12284A>G (p.His4095Arg) | |
7 | g.21880769A>T | CA366963993 | DNAH11 | c.12263A>T (p.His4088Leu) c.12284A>T (p.His4095Leu) | |
7 | g.21880770C>A | CA366963995 | DNAH11 | c.12264C>A (p.His4088Gln) c.12285C>A (p.His4095Gln) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880770C= | CA1693712682 | DNAH11 | c.12264C= (p.His4088=) c.12285C= (p.His4095=) | |
7 | g.21880770C>G | CA366963996 | DNAH11 | c.12264C>G (p.His4088Gln) c.12285C>G (p.His4095Gln) | ClinVar dbSNP |
7 | g.21880770C>T | CA4183021 | DNAH11 | c.12264C>T (p.His4088=) c.12285C>T (p.His4095=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880771G>A | CA155158696 | DNAH11 | c.12265G>A (p.Ala4089Thr) c.12286G>A (p.Ala4096Thr) | dbSNP gnomAD v4 COSMIC |
7 | g.21880771G>C | CA366963997 | DNAH11 | c.12265G>C (p.Ala4089Pro) c.12286G>C (p.Ala4096Pro) | |
7 | g.21880771G= | CA1693712688 | DNAH11 | c.12265G= (p.Ala4089=) c.12286G= (p.Ala4096=) | |
7 | g.21880771G>T | CA366963998 | DNAH11 | c.12265G>T (p.Ala4089Ser) c.12286G>T (p.Ala4096Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880772C>A | CA366963999 | DNAH11 | c.12266C>A (p.Ala4089Asp) c.12287C>A (p.Ala4096Asp) | |
7 | g.21880772C= | CA1693712691 | DNAH11 | c.12266C= (p.Ala4089=) c.12287C= (p.Ala4096=) | |
7 | g.21880772C>G | CA366964000 | DNAH11 | c.12266C>G (p.Ala4089Gly) c.12287C>G (p.Ala4096Gly) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21880772C>T | CA366964001 | DNAH11 | c.12266C>T (p.Ala4089Val) c.12287C>T (p.Ala4096Val) | COSMIC COSMIC |
7 | g.21880773C>A | CA453967867 | DNAH11 | c.12267C>A (p.Ala4089=) c.12288C>A (p.Ala4096=) | |
7 | g.21880773C= | CA1693712695 | DNAH11 | c.12267C= (p.Ala4089=) c.12288C= (p.Ala4096=) | |
7 | g.21880773C>G | CA4183022 | DNAH11 | c.12267C>G (p.Ala4089=) c.12288C>G (p.Ala4096=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880773C>T | CA4183023 | DNAH11 | c.12267C>T (p.Ala4089=) c.12288C>T (p.Ala4096=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880774T>A | CA366964003 | DNAH11 | c.12268T>A (p.Cys4090Ser) c.12289T>A (p.Cys4097Ser) | |
7 | g.21880774T>C | CA366964004 | DNAH11 | c.12268T>C (p.Cys4090Arg) c.12289T>C (p.Cys4097Arg) | |
7 | g.21880774T>G | CA366964002 | DNAH11 | c.12268T>G (p.Cys4090Gly) c.12289T>G (p.Cys4097Gly) | |
7 | g.21880775G>A | CA366964005 | DNAH11 | c.12269G>A (p.Cys4090Tyr) c.12290G>A (p.Cys4097Tyr) | |
7 | g.21880775G>C | CA366964006 | DNAH11 | c.12269G>C (p.Cys4090Ser) c.12290G>C (p.Cys4097Ser) | dbSNP |
7 | g.21880775G= | CA1693712699 | DNAH11 | c.12269G= (p.Cys4090=) c.12290G= (p.Cys4097=) | |
7 | g.21880775G>T | CA366964007 | DNAH11 | c.12269G>T (p.Cys4090Phe) c.12290G>T (p.Cys4097Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880776T>A | CA366964008 | DNAH11 | c.12270T>A (p.Cys4090Ter) c.12291T>A (p.Cys4097Ter) | |
7 | g.21880776T>C | CA453967869 | DNAH11 | c.12270T>C (p.Cys4090=) c.12291T>C (p.Cys4097=) | |
7 | g.21880776T>G | CA366964009 | DNAH11 | c.12270T>G (p.Cys4090Trp) c.12291T>G (p.Cys4097Trp) | |
7 | g.21880777G>A | CA366964012 | DNAH11 | c.12271G>A (p.Val4091Ile) c.12292G>A (p.Val4098Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880777G>C | CA366964011 | DNAH11 | c.12271G>C (p.Val4091Leu) c.12292G>C (p.Val4098Leu) | |
7 | g.21880777G= | CA1693712704 | DNAH11 | c.12271G= (p.Val4091=) c.12292G= (p.Val4098=) | |
7 | g.21880777G>T | CA366964010 | DNAH11 | c.12271G>T (p.Val4091Phe) c.12292G>T (p.Val4098Phe) | |
7 | g.21880778T>A | CA366964013 | DNAH11 | c.12272T>A (p.Val4091Asp) c.12293T>A (p.Val4098Asp) | |
7 | g.21880778T>C | CA366964014 | DNAH11 | c.12272T>C (p.Val4091Ala) c.12293T>C (p.Val4098Ala) | |
7 | g.21880778T>G | CA366964015 | DNAH11 | c.12272T>G (p.Val4091Gly) c.12293T>G (p.Val4098Gly) | |
7 | g.21880779T>A | CA453967871 | DNAH11 | c.12273T>A (p.Val4091=) c.12294T>A (p.Val4098=) | ClinVar |
7 | g.21880779T>C | CA453967872 | DNAH11 | c.12273T>C (p.Val4091=) c.12294T>C (p.Val4098=) | |
7 | g.21880779T>G | CA453967873 | DNAH11 | c.12273T>G (p.Val4091=) c.12294T>G (p.Val4098=) | |
7 | g.21880780G>A | CA366964016 | DNAH11 | c.12274G>A (p.Ala4092Thr) c.12295G>A (p.Ala4099Thr) | |
7 | g.21880780G>C | CA366964017 | DNAH11 | c.12274G>C (p.Ala4092Pro) c.12295G>C (p.Ala4099Pro) | |
7 | g.21880780G>T | CA366964018 | DNAH11 | c.12274G>T (p.Ala4092Ser) c.12295G>T (p.Ala4099Ser) | gnomAD v4 |
7 | g.21880781C>A | CA366964019 | DNAH11 | c.12275C>A (p.Ala4092Asp) c.12296C>A (p.Ala4099Asp) | dbSNP |
7 | g.21880781C= | CA1693712707 | DNAH11 | c.12275C= (p.Ala4092=) c.12296C= (p.Ala4099=) | |
7 | g.21880781C>G | CA366964021 | DNAH11 | c.12275C>G (p.Ala4092Gly) c.12296C>G (p.Ala4099Gly) | gnomAD v4 |
7 | g.21880781C>T | CA366964020 | DNAH11 | c.12275C>T (p.Ala4092Val) c.12296C>T (p.Ala4099Val) | |
7 | g.21880782T>A | CA453967875 | DNAH11 | c.12276T>A (p.Ala4092=) c.12297T>A (p.Ala4099=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21880782T>C | CA453967876 | DNAH11 | c.12276T>C (p.Ala4092=) c.12297T>C (p.Ala4099=) | gnomAD v4 |
7 | g.21880782T>G | CA453967878 | DNAH11 | c.12276T>G (p.Ala4092=) c.12297T>G (p.Ala4099=) | |
7 | g.21880782T= | CA1693712710 | DNAH11 | c.12276T= (p.Ala4092=) c.12297T= (p.Ala4099=) |