Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21704462A= | CA1693624663 | DNAH11 | c.6302A= (p.Asn2101=) c.6323A= (p.Asn2108=) | |
7 | g.21704462A>C | CA366936922 | DNAH11 | c.6302A>C (p.Asn2101Thr) c.6323A>C (p.Asn2108Thr) | |
7 | g.21704462A>G | CA4180777 | DNAH11 | c.6302A>G (p.Asn2101Ser) c.6323A>G (p.Asn2108Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704462A>T | CA366936923 | DNAH11 | c.6302A>T (p.Asn2101Ile) c.6323A>T (p.Asn2108Ile) | gnomAD v4 |
7 | g.21704463T>A | CA4180778 | DNAH11 | c.6303T>A (p.Asn2101Lys) c.6324T>A (p.Asn2108Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704463T>C | CA155076533 | DNAH11 | c.6303T>C (p.Asn2101=) c.6324T>C (p.Asn2108=) | ClinVar dbSNP gnomAD v4 |
7 | g.21704463T>G | CA366936924 | DNAH11 | c.6303T>G (p.Asn2101Lys) c.6324T>G (p.Asn2108Lys) | |
7 | g.21704463T= | CA1693624672 | DNAH11 | c.6303T= (p.Asn2101=) c.6324T= (p.Asn2108=) | |
7 | g.21704464A>C | CA366936925 | DNAH11 | c.6304A>C (p.Met2102Leu) c.6325A>C (p.Met2109Leu) | |
7 | g.21704464A>G | CA366936927 | DNAH11 | c.6304A>G (p.Met2102Val) c.6325A>G (p.Met2109Val) | |
7 | g.21704464A>T | CA366936926 | DNAH11 | c.6304A>T (p.Met2102Leu) c.6325A>T (p.Met2109Leu) | |
7 | g.21704465T>A | CA366936928 | DNAH11 | c.6305T>A (p.Met2102Lys) c.6326T>A (p.Met2109Lys) | |
7 | g.21704465T>C | CA366936930 | DNAH11 | c.6305T>C (p.Met2102Thr) c.6326T>C (p.Met2109Thr) | |
7 | g.21704465T>G | CA366936929 | DNAH11 | c.6305T>G (p.Met2102Arg) c.6326T>G (p.Met2109Arg) | |
7 | g.21704466G>A | CA366936931 | DNAH11 | c.6306G>A (p.Met2102Ile) c.6327G>A (p.Met2109Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704466G>C | CA366936932 | DNAH11 | c.6306G>C (p.Met2102Ile) c.6327G>C (p.Met2109Ile) | |
7 | g.21704466G= | CA1693624675 | DNAH11 | c.6306G= (p.Met2102=) c.6327G= (p.Met2109=) | |
7 | g.21704466G>T | CA366936933 | DNAH11 | c.6306G>T (p.Met2102Ile) c.6327G>T (p.Met2109Ile) | gnomAD v4 |
7 | g.21704467C>A | CA366936934 | DNAH11 | c.6307C>A (p.Pro2103Thr) c.6328C>A (p.Pro2110Thr) | |
7 | g.21704467C= | CA1693624676 | DNAH11 | c.6307C= (p.Pro2103=) c.6328C= (p.Pro2110=) | |
7 | g.21704467C>G | CA366936935 | DNAH11 | c.6307C>G (p.Pro2103Ala) c.6328C>G (p.Pro2110Ala) | |
7 | g.21704467C>T | CA366936936 | DNAH11 | c.6307C>T (p.Pro2103Ser) c.6328C>T (p.Pro2110Ser) | dbSNP |
7 | g.21704468C>A | CA366936937 | DNAH11 | c.6308C>A (p.Pro2103His) c.6329C>A (p.Pro2110His) | |
7 | g.21704468C>G | CA366936938 | DNAH11 | c.6308C>G (p.Pro2103Arg) c.6329C>G (p.Pro2110Arg) | |
7 | g.21704468C>T | CA366936939 | DNAH11 | c.6308C>T (p.Pro2103Leu) c.6329C>T (p.Pro2110Leu) | |
7 | g.21704469C>A | CA453964695 | DNAH11 | c.6309C>A (p.Pro2103=) c.6330C>A (p.Pro2110=) | |
7 | g.21704469C= | CA1693624680 | DNAH11 | c.6309C= (p.Pro2103=) c.6330C= (p.Pro2110=) | |
7 | g.21704469C>G | CA155076545 | DNAH11 | c.6309C>G (p.Pro2103=) c.6330C>G (p.Pro2110=) | dbSNP |
7 | g.21704469C>T | CA453964696 | DNAH11 | c.6309C>T (p.Pro2103=) c.6330C>T (p.Pro2110=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704470A>C | CA366936940 | DNAH11 | c.6310A>C (p.Lys2104Gln) c.6331A>C (p.Lys2111Gln) | |
7 | g.21704470A>G | CA366936941 | DNAH11 | c.6310A>G (p.Lys2104Glu) c.6331A>G (p.Lys2111Glu) | |
7 | g.21704470A>T | CA366936942 | DNAH11 | c.6310A>T (p.Lys2104Ter) c.6331A>T (p.Lys2111Ter) | |
7 | g.21704471A>C | CA366936943 | DNAH11 | c.6311A>C (p.Lys2104Thr) c.6332A>C (p.Lys2111Thr) | |
7 | g.21704471A>G | CA366936945 | DNAH11 | c.6311A>G (p.Lys2104Arg) c.6332A>G (p.Lys2111Arg) | |
7 | g.21704471A>T | CA366936944 | DNAH11 | c.6311A>T (p.Lys2104Ile) c.6332A>T (p.Lys2111Ile) | |
7 | g.21704472A= | CA1693624686 | DNAH11 | c.6312A= (p.Lys2104=) c.6333A= (p.Lys2111=) | |
7 | g.21704472A>C | CA4180779 | DNAH11 | c.6312A>C (p.Lys2104Asn) c.6333A>C (p.Lys2111Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704472A>G | CA453964697 | DNAH11 | c.6312A>G (p.Lys2104=) c.6333A>G (p.Lys2111=) | |
7 | g.21704472A>T | CA366936946 | DNAH11 | c.6312A>T (p.Lys2104Asn) c.6333A>T (p.Lys2111Asn) | |
7 | g.21704473A>C | CA366936947 | DNAH11 | c.6313A>C (p.Ile2105Leu) c.6334A>C (p.Ile2112Leu) | |
7 | g.21704473A>G | CA366936948 | DNAH11 | c.6313A>G (p.Ile2105Val) c.6334A>G (p.Ile2112Val) | gnomAD v4 |
7 | g.21704473A>T | CA366936949 | DNAH11 | c.6313A>T (p.Ile2105Leu) c.6334A>T (p.Ile2112Leu) | |
7 | g.21704474T>A | CA366936950 | DNAH11 | c.6314T>A (p.Ile2105Lys) c.6335T>A (p.Ile2112Lys) | |
7 | g.21704474T>C | CA366936951 | DNAH11 | c.6314T>C (p.Ile2105Thr) c.6335T>C (p.Ile2112Thr) | dbSNP gnomAD v4 |
7 | g.21704474T>G | CA366936952 | DNAH11 | c.6314T>G (p.Ile2105Arg) c.6335T>G (p.Ile2112Arg) | |
7 | g.21704474T= | CA1693624690 | DNAH11 | c.6314T= (p.Ile2105=) c.6335T= (p.Ile2112=) | |
7 | g.21704475A>C | CA453964698 | DNAH11 | c.6315A>C (p.Ile2105=) c.6336A>C (p.Ile2112=) | |
7 | g.21704475A>G | CA366936953 | DNAH11 | c.6315A>G (p.Ile2105Met) c.6336A>G (p.Ile2112Met) | |
7 | g.21704475A>T | CA453964699 | DNAH11 | c.6315A>T (p.Ile2105=) c.6336A>T (p.Ile2112=) | |
7 | g.21704476G>A | CA4180780 | DNAH11 | c.6316G>A (p.Val2106Met) c.6337G>A (p.Val2113Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |