| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13886035T>A | CA359196393 | DNAH5 | c.2672A>T (p.Glu891Val) c.2627A>T (p.Glu876Val) n.2879A>T c.2780A>T (p.Glu927Val) c.1685A>T (p.Glu562Val) c.1274A>T (p.Glu425Val) n.2797A>T | |
| 5 | g.13886035T>C | CA359196397 | DNAH5 | c.2672A>G (p.Glu891Gly) c.2627A>G (p.Glu876Gly) n.2879A>G c.2780A>G (p.Glu927Gly) c.1685A>G (p.Glu562Gly) c.1274A>G (p.Glu425Gly) n.2797A>G | |
| 5 | g.13886035T>G | CA359196394 | DNAH5 | c.2672A>C (p.Glu891Ala) c.2627A>C (p.Glu876Ala) n.2879A>C c.2780A>C (p.Glu927Ala) c.1685A>C (p.Glu562Ala) c.1274A>C (p.Glu425Ala) n.2797A>C | |
| 5 | g.13886036C>A | CA359196401 | DNAH5 | c.2671G>T (p.Glu891Ter) c.2626G>T (p.Glu876Ter) n.2878G>T c.2779G>T (p.Glu927Ter) c.1684G>T (p.Glu562Ter) c.1273G>T (p.Glu425Ter) n.2796G>T | |
| 5 | g.13886036C= | CA1528483818 | DNAH5 | c.2671G= (p.Glu891=) c.2626G= (p.Glu876=) n.2878G= c.2779G= (p.Glu927=) c.1684G= (p.Glu562=) c.1273G= (p.Glu425=) n.2796G= | |
| 5 | g.13886036C>G | CA359196403 | DNAH5 | c.2671G>C (p.Glu891Gln) c.2626G>C (p.Glu876Gln) n.2878G>C c.2779G>C (p.Glu927Gln) c.1684G>C (p.Glu562Gln) c.1273G>C (p.Glu425Gln) n.2796G>C | |
| 5 | g.13886036C>T | CA359196406 | DNAH5 | c.2671G>A (p.Glu891Lys) c.2626G>A (p.Glu876Lys) n.2878G>A c.2779G>A (p.Glu927Lys) c.1684G>A (p.Glu562Lys) c.1273G>A (p.Glu425Lys) n.2796G>A | dbSNP gnomAD v4 COSMIC |
| 5 | g.13886037C>A | CA443273690 | DNAH5 | c.2670G>T (p.Val890=) c.2625G>T (p.Val875=) n.2877G>T c.2778G>T (p.Val926=) c.1683G>T (p.Val561=) c.1272G>T (p.Val424=) n.2795G>T | |
| 5 | g.13886037C= | CA1528483819 | DNAH5 | c.2670G= (p.Val890=) c.2625G= (p.Val875=) n.2877G= c.2778G= (p.Val926=) c.1683G= (p.Val561=) c.1272G= (p.Val424=) n.2795G= | |
| 5 | g.13886037C>G | CA443273689 | DNAH5 | c.2670G>C (p.Val890=) c.2625G>C (p.Val875=) n.2877G>C c.2778G>C (p.Val926=) c.1683G>C (p.Val561=) c.1272G>C (p.Val424=) n.2795G>C | |
| 5 | g.13886037C>T | CA443273691 | DNAH5 | c.2670G>A (p.Val890=) c.2625G>A (p.Val875=) n.2877G>A c.2778G>A (p.Val926=) c.1683G>A (p.Val561=) c.1272G>A (p.Val424=) n.2795G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13886038A>C | CA359196407 | DNAH5 | c.2669T>G (p.Val890Gly) c.2624T>G (p.Val875Gly) n.2876T>G c.2777T>G (p.Val926Gly) c.1682T>G (p.Val561Gly) c.1271T>G (p.Val424Gly) n.2794T>G | |
| 5 | g.13886038A>G | CA359196409 | DNAH5 | c.2669T>C (p.Val890Ala) c.2624T>C (p.Val875Ala) n.2876T>C c.2777T>C (p.Val926Ala) c.1682T>C (p.Val561Ala) c.1271T>C (p.Val424Ala) n.2794T>C | |
| 5 | g.13886038A>T | CA359196411 | DNAH5 | c.2669T>A (p.Val890Glu) c.2624T>A (p.Val875Glu) n.2876T>A c.2777T>A (p.Val926Glu) c.1682T>A (p.Val561Glu) c.1271T>A (p.Val424Glu) n.2794T>A | |
| 5 | g.13886039C>A | CA359196414 | DNAH5 | c.2668G>T (p.Val890Leu) c.2623G>T (p.Val875Leu) n.2875G>T c.2776G>T (p.Val926Leu) c.1681G>T (p.Val561Leu) c.1270G>T (p.Val424Leu) n.2793G>T | |
| 5 | g.13886039C>G | CA359196416 | DNAH5 | c.2668G>C (p.Val890Leu) c.2623G>C (p.Val875Leu) n.2875G>C c.2776G>C (p.Val926Leu) c.1681G>C (p.Val561Leu) c.1270G>C (p.Val424Leu) n.2793G>C | |
| 5 | g.13886039C>T | CA359196418 | DNAH5 | c.2668G>A (p.Val890Met) c.2623G>A (p.Val875Met) n.2875G>A c.2776G>A (p.Val926Met) c.1681G>A (p.Val561Met) c.1270G>A (p.Val424Met) n.2793G>A | |
| 5 | g.13886040A>C | CA359196420 | DNAH5 | c.2667T>G (p.Asp889Glu) c.2622T>G (p.Asp874Glu) n.2874T>G c.2775T>G (p.Asp925Glu) c.1680T>G (p.Asp560Glu) c.1269T>G (p.Asp423Glu) n.2792T>G | |
| 5 | g.13886040A>G | CA443273693 | DNAH5 | c.2667T>C (p.Asp889=) c.2622T>C (p.Asp874=) n.2874T>C c.2775T>C (p.Asp925=) c.1680T>C (p.Asp560=) c.1269T>C (p.Asp423=) n.2792T>C | |
| 5 | g.13886040A>T | CA359196424 | DNAH5 | c.2667T>A (p.Asp889Glu) c.2622T>A (p.Asp874Glu) n.2874T>A c.2775T>A (p.Asp925Glu) c.1680T>A (p.Asp560Glu) c.1269T>A (p.Asp423Glu) n.2792T>A | |
| 5 | g.13886041T>A | CA359196430 | DNAH5 | c.2666A>T (p.Asp889Val) c.2621A>T (p.Asp874Val) n.2873A>T c.2774A>T (p.Asp925Val) c.1679A>T (p.Asp560Val) c.1268A>T (p.Asp423Val) n.2791A>T | gnomAD v4 |
| 5 | g.13886041T>C | CA359196434 | DNAH5 | c.2666A>G (p.Asp889Gly) c.2621A>G (p.Asp874Gly) n.2873A>G c.2774A>G (p.Asp925Gly) c.1679A>G (p.Asp560Gly) c.1268A>G (p.Asp423Gly) n.2791A>G | gnomAD v4 |
| 5 | g.13886041T>G | CA359196432 | DNAH5 | c.2666A>C (p.Asp889Ala) c.2621A>C (p.Asp874Ala) n.2873A>C c.2774A>C (p.Asp925Ala) c.1679A>C (p.Asp560Ala) c.1268A>C (p.Asp423Ala) n.2791A>C | |
| 5 | g.13886042C>A | CA359196437 | DNAH5 | c.2665G>T (p.Asp889Tyr) c.2620G>T (p.Asp874Tyr) n.2872G>T c.2773G>T (p.Asp925Tyr) c.1678G>T (p.Asp560Tyr) c.1267G>T (p.Asp423Tyr) n.2790G>T | |
| 5 | g.13886042C>G | CA359196440 | DNAH5 | c.2665G>C (p.Asp889His) c.2620G>C (p.Asp874His) n.2872G>C c.2773G>C (p.Asp925His) c.1678G>C (p.Asp560His) c.1267G>C (p.Asp423His) n.2790G>C | gnomAD v4 |
| 5 | g.13886042C>T | CA359196441 | DNAH5 | c.2665G>A (p.Asp889Asn) c.2620G>A (p.Asp874Asn) n.2872G>A c.2773G>A (p.Asp925Asn) c.1678G>A (p.Asp560Asn) c.1267G>A (p.Asp423Asn) n.2790G>A | |
| 5 | g.13886043del | CA2673277316 | DNAH5 | c.2665del (p.Asp889MetfsTer?) c.2620del (p.Asp874MetfsTer?) n.2872del c.2773del (p.Asp925MetfsTer?) c.1678del (p.Asp560MetfsTer?) c.1267del (p.Asp423MetfsTer?) n.2790del | gnomAD v4 |
| 5 | g.13886043C>A | CA443273697 | DNAH5 | c.2664G>T (p.Leu888=) c.2619G>T (p.Leu873=) n.2871G>T c.2772G>T (p.Leu924=) c.1677G>T (p.Leu559=) c.1266G>T (p.Leu422=) n.2789G>T | |
| 5 | g.13886043C>G | CA443273698 | DNAH5 | c.2664G>C (p.Leu888=) c.2619G>C (p.Leu873=) n.2871G>C c.2772G>C (p.Leu924=) c.1677G>C (p.Leu559=) c.1266G>C (p.Leu422=) n.2789G>C | |
| 5 | g.13886043C>T | CA443273699 | DNAH5 | c.2664G>A (p.Leu888=) c.2619G>A (p.Leu873=) n.2871G>A c.2772G>A (p.Leu924=) c.1677G>A (p.Leu559=) c.1266G>A (p.Leu422=) n.2789G>A | |
| 5 | g.13886044A>C | CA359196445 | DNAH5 | c.2663T>G (p.Leu888Arg) c.2618T>G (p.Leu873Arg) n.2870T>G c.2771T>G (p.Leu924Arg) c.1676T>G (p.Leu559Arg) c.1265T>G (p.Leu422Arg) n.2788T>G | |
| 5 | g.13886044A>G | CA359196447 | DNAH5 | c.2663T>C (p.Leu888Pro) c.2618T>C (p.Leu873Pro) n.2870T>C c.2771T>C (p.Leu924Pro) c.1676T>C (p.Leu559Pro) c.1265T>C (p.Leu422Pro) n.2788T>C | |
| 5 | g.13886044A>T | CA359196450 | DNAH5 | c.2663T>A (p.Leu888Gln) c.2618T>A (p.Leu873Gln) n.2870T>A c.2771T>A (p.Leu924Gln) c.1676T>A (p.Leu559Gln) c.1265T>A (p.Leu422Gln) n.2788T>A | |
| 5 | g.13886045G>A | CA3204524 | DNAH5 | c.2662C>T (p.Leu888=) c.2617C>T (p.Leu873=) n.2869C>T c.2770C>T (p.Leu924=) c.1675C>T (p.Leu559=) c.1264C>T (p.Leu422=) n.2787C>T | dbSNP ExAC gnomAD v2 |
| 5 | g.13886045G>C | CA359196454 | DNAH5 | c.2662C>G (p.Leu888Val) c.2617C>G (p.Leu873Val) n.2869C>G c.2770C>G (p.Leu924Val) c.1675C>G (p.Leu559Val) c.1264C>G (p.Leu422Val) n.2787C>G | |
| 5 | g.13886045G= | CA1528483820 | DNAH5 | c.2662C= (p.Leu888=) c.2617C= (p.Leu873=) n.2869C= c.2770C= (p.Leu924=) c.1675C= (p.Leu559=) c.1264C= (p.Leu422=) n.2787C= | |
| 5 | g.13886045G>T | CA3204525 | DNAH5 | c.2662C>A (p.Leu888Met) c.2617C>A (p.Leu873Met) n.2869C>A c.2770C>A (p.Leu924Met) c.1675C>A (p.Leu559Met) c.1264C>A (p.Leu422Met) n.2787C>A | dbSNP ExAC |
| 5 | g.13886046C>A | CA359196458 | DNAH5 | c.2661G>T (p.Leu887Phe) c.2616G>T (p.Leu872Phe) n.2868G>T c.2769G>T (p.Leu923Phe) c.1674G>T (p.Leu558Phe) c.1263G>T (p.Leu421Phe) n.2786G>T | |
| 5 | g.13886046C>G | CA359196461 | DNAH5 | c.2661G>C (p.Leu887Phe) c.2616G>C (p.Leu872Phe) n.2868G>C c.2769G>C (p.Leu923Phe) c.1674G>C (p.Leu558Phe) c.1263G>C (p.Leu421Phe) n.2786G>C | |
| 5 | g.13886046C>T | CA443273700 | DNAH5 | c.2661G>A (p.Leu887=) c.2616G>A (p.Leu872=) n.2868G>A c.2769G>A (p.Leu923=) c.1674G>A (p.Leu558=) c.1263G>A (p.Leu421=) n.2786G>A | |
| 5 | g.13886047A>C | CA359196469 | DNAH5 | c.2660T>G (p.Leu887Trp) c.2615T>G (p.Leu872Trp) n.2867T>G c.2768T>G (p.Leu923Trp) c.1673T>G (p.Leu558Trp) c.1262T>G (p.Leu421Trp) n.2785T>G | |
| 5 | g.13886047A>G | CA359196466 | DNAH5 | c.2660T>C (p.Leu887Ser) c.2615T>C (p.Leu872Ser) n.2867T>C c.2768T>C (p.Leu923Ser) c.1673T>C (p.Leu558Ser) c.1262T>C (p.Leu421Ser) n.2785T>C | |
| 5 | g.13886047A>T | CA359196463 | DNAH5 | c.2660T>A (p.Leu887Ter) c.2615T>A (p.Leu872Ter) n.2867T>A c.2768T>A (p.Leu923Ter) c.1673T>A (p.Leu558Ter) c.1262T>A (p.Leu421Ter) n.2785T>A | ClinVar dbSNP |
| 5 | g.13886048A>C | CA359196474 | DNAH5 | c.2659T>G (p.Leu887Val) c.2614T>G (p.Leu872Val) n.2866T>G c.2767T>G (p.Leu923Val) c.1672T>G (p.Leu558Val) c.1261T>G (p.Leu421Val) n.2784T>G | |
| 5 | g.13886048A>G | CA443273702 | DNAH5 | c.2659T>C (p.Leu887=) c.2614T>C (p.Leu872=) n.2866T>C c.2767T>C (p.Leu923=) c.1672T>C (p.Leu558=) c.1261T>C (p.Leu421=) n.2784T>C | ClinVar |
| 5 | g.13886048A>T | CA359196476 | DNAH5 | c.2659T>A (p.Leu887Met) c.2614T>A (p.Leu872Met) n.2866T>A c.2767T>A (p.Leu923Met) c.1672T>A (p.Leu558Met) c.1261T>A (p.Leu421Met) n.2784T>A | |
| 5 | g.13886049C>A | CA359196479 | DNAH5 | c.2658G>T (p.Met886Ile) c.2613G>T (p.Met871Ile) n.2865G>T c.2766G>T (p.Met922Ile) c.1671G>T (p.Met557Ile) c.1260G>T (p.Met420Ile) n.2783G>T | |
| 5 | g.13886049C= | CA1528483821 | DNAH5 | c.2658G= (p.Met886=) c.2613G= (p.Met871=) n.2865G= c.2766G= (p.Met922=) c.1671G= (p.Met557=) c.1260G= (p.Met420=) n.2783G= | |
| 5 | g.13886049C>G | CA359196481 | DNAH5 | c.2658G>C (p.Met886Ile) c.2613G>C (p.Met871Ile) n.2865G>C c.2766G>C (p.Met922Ile) c.1671G>C (p.Met557Ile) c.1260G>C (p.Met420Ile) n.2783G>C | |
| 5 | g.13886049C>T | CA359196483 | DNAH5 | c.2658G>A (p.Met886Ile) c.2613G>A (p.Met871Ile) n.2865G>A c.2766G>A (p.Met922Ile) c.1671G>A (p.Met557Ile) c.1260G>A (p.Met420Ile) n.2783G>A | dbSNP gnomAD v2 gnomAD v4 |