Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
5 | g.13886050A>C | CA359196487 | DNAH5 | c.2657T>G (p.Met886Arg) c.2612T>G (p.Met871Arg) n.2864T>G c.2765T>G (p.Met922Arg) c.1670T>G (p.Met557Arg) c.1259T>G (p.Met420Arg) n.2782T>G | |
5 | g.13886050A>G | CA359196489 | DNAH5 | c.2657T>C (p.Met886Thr) c.2612T>C (p.Met871Thr) n.2864T>C c.2765T>C (p.Met922Thr) c.1670T>C (p.Met557Thr) c.1259T>C (p.Met420Thr) n.2782T>C | |
5 | g.13886050A>T | CA359196494 | DNAH5 | c.2657T>A (p.Met886Lys) c.2612T>A (p.Met871Lys) n.2864T>A c.2765T>A (p.Met922Lys) c.1670T>A (p.Met557Lys) c.1259T>A (p.Met420Lys) n.2782T>A | |
5 | g.13886051T>A | CA359196496 | DNAH5 | c.2656A>T (p.Met886Leu) c.2611A>T (p.Met871Leu) n.2863A>T c.2764A>T (p.Met922Leu) c.1669A>T (p.Met557Leu) c.1258A>T (p.Met420Leu) n.2781A>T | |
5 | g.13886051T>C | CA359196499 | DNAH5 | c.2656A>G (p.Met886Val) c.2611A>G (p.Met871Val) n.2863A>G c.2764A>G (p.Met922Val) c.1669A>G (p.Met557Val) c.1258A>G (p.Met420Val) n.2781A>G | |
5 | g.13886051T>G | CA359196502 | DNAH5 | c.2656A>C (p.Met886Leu) c.2611A>C (p.Met871Leu) n.2863A>C c.2764A>C (p.Met922Leu) c.1669A>C (p.Met557Leu) c.1258A>C (p.Met420Leu) n.2781A>C | |
5 | g.13886052A= | CA1528483822 | DNAH5 | c.2655T= (p.Asn885=) c.2610T= (p.Asn870=) n.2862T= c.2763T= (p.Asn921=) c.1668T= (p.Asn556=) c.1257T= (p.Asn419=) n.2780T= | |
5 | g.13886052A>C | CA3204526 | DNAH5 | c.2655T>G (p.Asn885Lys) c.2610T>G (p.Asn870Lys) n.2862T>G c.2763T>G (p.Asn921Lys) c.1668T>G (p.Asn556Lys) c.1257T>G (p.Asn419Lys) n.2780T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886052A>G | CA443273703 | DNAH5 | c.2655T>C (p.Asn885=) c.2610T>C (p.Asn870=) n.2862T>C c.2763T>C (p.Asn921=) c.1668T>C (p.Asn556=) c.1257T>C (p.Asn419=) n.2780T>C | |
5 | g.13886052A>T | CA359196505 | DNAH5 | c.2655T>A (p.Asn885Lys) c.2610T>A (p.Asn870Lys) n.2862T>A c.2763T>A (p.Asn921Lys) c.1668T>A (p.Asn556Lys) c.1257T>A (p.Asn419Lys) n.2780T>A | |
5 | g.13886053T>A | CA359196514 | DNAH5 | c.2654A>T (p.Asn885Ile) c.2609A>T (p.Asn870Ile) n.2861A>T c.2762A>T (p.Asn921Ile) c.1667A>T (p.Asn556Ile) c.1256A>T (p.Asn419Ile) n.2779A>T | |
5 | g.13886053T>C | CA359196512 | DNAH5 | c.2654A>G (p.Asn885Ser) c.2609A>G (p.Asn870Ser) n.2861A>G c.2762A>G (p.Asn921Ser) c.1667A>G (p.Asn556Ser) c.1256A>G (p.Asn419Ser) n.2779A>G | |
5 | g.13886053T>G | CA359196508 | DNAH5 | c.2654A>C (p.Asn885Thr) c.2609A>C (p.Asn870Thr) n.2861A>C c.2762A>C (p.Asn921Thr) c.1667A>C (p.Asn556Thr) c.1256A>C (p.Asn419Thr) n.2779A>C | |
5 | g.13886054T>A | CA359196521 | DNAH5 | c.2653A>T (p.Asn885Tyr) c.2608A>T (p.Asn870Tyr) n.2860A>T c.2761A>T (p.Asn921Tyr) c.1666A>T (p.Asn556Tyr) c.1255A>T (p.Asn419Tyr) n.2778A>T | COSMIC |
5 | g.13886054T>C | CA359196516 | DNAH5 | c.2653A>G (p.Asn885Asp) c.2608A>G (p.Asn870Asp) n.2860A>G c.2761A>G (p.Asn921Asp) c.1666A>G (p.Asn556Asp) c.1255A>G (p.Asn419Asp) n.2778A>G | gnomAD v4 |
5 | g.13886054T>G | CA359196519 | DNAH5 | c.2653A>C (p.Asn885His) c.2608A>C (p.Asn870His) n.2860A>C c.2761A>C (p.Asn921His) c.1666A>C (p.Asn556His) c.1255A>C (p.Asn419His) n.2778A>C | |
5 | g.13886055T>A | CA443273704 | DNAH5 | c.2652A>T (p.Val884=) c.2607A>T (p.Val869=) n.2859A>T c.2760A>T (p.Val920=) c.1665A>T (p.Val555=) c.1254A>T (p.Val418=) n.2777A>T | |
5 | g.13886055T>C | CA443273705 | DNAH5 | c.2652A>G (p.Val884=) c.2607A>G (p.Val869=) n.2859A>G c.2760A>G (p.Val920=) c.1665A>G (p.Val555=) c.1254A>G (p.Val418=) n.2777A>G | |
5 | g.13886055T>G | CA443273706 | DNAH5 | c.2652A>C (p.Val884=) c.2607A>C (p.Val869=) n.2859A>C c.2760A>C (p.Val920=) c.1665A>C (p.Val555=) c.1254A>C (p.Val418=) n.2777A>C | |
5 | g.13886056A>C | CA359196524 | DNAH5 | c.2651T>G (p.Val884Gly) c.2606T>G (p.Val869Gly) n.2858T>G c.2759T>G (p.Val920Gly) c.1664T>G (p.Val555Gly) c.1253T>G (p.Val418Gly) n.2776T>G | |
5 | g.13886056A>G | CA359196526 | DNAH5 | c.2651T>C (p.Val884Ala) c.2606T>C (p.Val869Ala) n.2858T>C c.2759T>C (p.Val920Ala) c.1664T>C (p.Val555Ala) c.1253T>C (p.Val418Ala) n.2776T>C | |
5 | g.13886056A>T | CA359196527 | DNAH5 | c.2651T>A (p.Val884Glu) c.2606T>A (p.Val869Glu) n.2858T>A c.2759T>A (p.Val920Glu) c.1664T>A (p.Val555Glu) c.1253T>A (p.Val418Glu) n.2776T>A | |
5 | g.13886057C>A | CA359196532 | DNAH5 | c.2650G>T (p.Val884Leu) c.2605G>T (p.Val869Leu) n.2857G>T c.2758G>T (p.Val920Leu) c.1663G>T (p.Val555Leu) c.1252G>T (p.Val418Leu) n.2775G>T | |
5 | g.13886057C>G | CA359196534 | DNAH5 | c.2650G>C (p.Val884Leu) c.2605G>C (p.Val869Leu) n.2857G>C c.2758G>C (p.Val920Leu) c.1663G>C (p.Val555Leu) c.1252G>C (p.Val418Leu) n.2775G>C | |
5 | g.13886057C>T | CA359196535 | DNAH5 | c.2650G>A (p.Val884Ile) c.2605G>A (p.Val869Ile) n.2857G>A c.2758G>A (p.Val920Ile) c.1663G>A (p.Val555Ile) c.1252G>A (p.Val418Ile) n.2775G>A | |
5 | g.13886058A>C | CA443273708 | DNAH5 | c.2649T>G (p.Leu883=) c.2604T>G (p.Leu868=) n.2856T>G c.2757T>G (p.Leu919=) c.1662T>G (p.Leu554=) c.1251T>G (p.Leu417=) n.2774T>G | |
5 | g.13886058A>G | CA443273709 | DNAH5 | c.2649T>C (p.Leu883=) c.2604T>C (p.Leu868=) n.2856T>C c.2757T>C (p.Leu919=) c.1662T>C (p.Leu554=) c.1251T>C (p.Leu417=) n.2774T>C | |
5 | g.13886058A>T | CA443273707 | DNAH5 | c.2649T>A (p.Leu883=) c.2604T>A (p.Leu868=) n.2856T>A c.2757T>A (p.Leu919=) c.1662T>A (p.Leu554=) c.1251T>A (p.Leu417=) n.2774T>A | |
5 | g.13886059A>C | CA359196536 | DNAH5 | c.2648T>G (p.Leu883Arg) c.2603T>G (p.Leu868Arg) n.2855T>G c.2756T>G (p.Leu919Arg) c.1661T>G (p.Leu554Arg) c.1250T>G (p.Leu417Arg) n.2773T>G | |
5 | g.13886059A>G | CA359196537 | DNAH5 | c.2648T>C (p.Leu883Pro) c.2603T>C (p.Leu868Pro) n.2855T>C c.2756T>C (p.Leu919Pro) c.1661T>C (p.Leu554Pro) c.1250T>C (p.Leu417Pro) n.2773T>C | ClinVar dbSNP gnomAD v4 |
5 | g.13886059A>T | CA359196539 | DNAH5 | c.2648T>A (p.Leu883His) c.2603T>A (p.Leu868His) n.2855T>A c.2756T>A (p.Leu919His) c.1661T>A (p.Leu554His) c.1250T>A (p.Leu417His) n.2773T>A | |
5 | g.13886060G>A | CA359196540 | DNAH5 | c.2647C>T (p.Leu883Phe) c.2602C>T (p.Leu868Phe) n.2854C>T c.2755C>T (p.Leu919Phe) c.1660C>T (p.Leu554Phe) c.1249C>T (p.Leu417Phe) n.2772C>T | gnomAD v4 |
5 | g.13886060G>C | CA359196542 | DNAH5 | c.2647C>G (p.Leu883Val) c.2602C>G (p.Leu868Val) n.2854C>G c.2755C>G (p.Leu919Val) c.1660C>G (p.Leu554Val) c.1249C>G (p.Leu417Val) n.2772C>G | |
5 | g.13886060G>T | CA359196543 | DNAH5 | c.2647C>A (p.Leu883Ile) c.2602C>A (p.Leu868Ile) n.2854C>A c.2755C>A (p.Leu919Ile) c.1660C>A (p.Leu554Ile) c.1249C>A (p.Leu417Ile) n.2772C>A | |
5 | g.13886061C>A | CA359196549 | DNAH5 | c.2646G>T (p.Glu882Asp) c.2601G>T (p.Glu867Asp) n.2853G>T c.2754G>T (p.Glu918Asp) c.1659G>T (p.Glu553Asp) c.1248G>T (p.Glu416Asp) n.2771G>T | |
5 | g.13886061C>G | CA359196547 | DNAH5 | c.2646G>C (p.Glu882Asp) c.2601G>C (p.Glu867Asp) n.2853G>C c.2754G>C (p.Glu918Asp) c.1659G>C (p.Glu553Asp) c.1248G>C (p.Glu416Asp) n.2771G>C | |
5 | g.13886061C>T | CA443273710 | DNAH5 | c.2646G>A (p.Glu882=) c.2601G>A (p.Glu867=) n.2853G>A c.2754G>A (p.Glu918=) c.1659G>A (p.Glu553=) c.1248G>A (p.Glu416=) n.2771G>A | |
5 | g.13886062T>A | CA359196552 | DNAH5 | c.2645A>T (p.Glu882Val) c.2600A>T (p.Glu867Val) n.2852A>T c.2753A>T (p.Glu918Val) c.1658A>T (p.Glu553Val) c.1247A>T (p.Glu416Val) n.2770A>T | |
5 | g.13886062T>C | CA359196555 | DNAH5 | c.2645A>G (p.Glu882Gly) c.2600A>G (p.Glu867Gly) n.2852A>G c.2753A>G (p.Glu918Gly) c.1658A>G (p.Glu553Gly) c.1247A>G (p.Glu416Gly) n.2770A>G | dbSNP |
5 | g.13886062T>G | CA359196558 | DNAH5 | c.2645A>C (p.Glu882Ala) c.2600A>C (p.Glu867Ala) n.2852A>C c.2753A>C (p.Glu918Ala) c.1658A>C (p.Glu553Ala) c.1247A>C (p.Glu416Ala) n.2770A>C | |
5 | g.13886062T= | CA1528483823 | DNAH5 | c.2645A= (p.Glu882=) c.2600A= (p.Glu867=) n.2852A= c.2753A= (p.Glu918=) c.1658A= (p.Glu553=) c.1247A= (p.Glu416=) n.2770A= | |
5 | g.13886063C>A | CA359196560 | DNAH5 | c.2644G>T (p.Glu882Ter) c.2599G>T (p.Glu867Ter) n.2851G>T c.2752G>T (p.Glu918Ter) c.1657G>T (p.Glu553Ter) c.1246G>T (p.Glu416Ter) n.2769G>T | |
5 | g.13886063C>G | CA359196561 | DNAH5 | c.2644G>C (p.Glu882Gln) c.2599G>C (p.Glu867Gln) n.2851G>C c.2752G>C (p.Glu918Gln) c.1657G>C (p.Glu553Gln) c.1246G>C (p.Glu416Gln) n.2769G>C | |
5 | g.13886063C>T | CA359196564 | DNAH5 | c.2644G>A (p.Glu882Lys) c.2599G>A (p.Glu867Lys) n.2851G>A c.2752G>A (p.Glu918Lys) c.1657G>A (p.Glu553Lys) c.1246G>A (p.Glu416Lys) n.2769G>A | |
5 | g.13886064del | CA2765351032 | DNAH5 | c.2643del (p.Asn881LysfsTer4) c.2598del (p.Asn866LysfsTer4) n.2850del c.2751del (p.Asn917LysfsTer4) c.1656del (p.Asn552LysfsTer4) c.1245del (p.Asn415LysfsTer4) n.2768del | |
5 | g.13886064A= | CA1528483824 | DNAH5 | c.2643T= (p.Asn881=) c.2598T= (p.Asn866=) n.2850T= c.2751T= (p.Asn917=) c.1656T= (p.Asn552=) c.1245T= (p.Asn415=) n.2768T= | |
5 | g.13886064A>C | CA359196567 | DNAH5 | c.2643T>G (p.Asn881Lys) c.2598T>G (p.Asn866Lys) n.2850T>G c.2751T>G (p.Asn917Lys) c.1656T>G (p.Asn552Lys) c.1245T>G (p.Asn415Lys) n.2768T>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886064A>G | CA443273711 | DNAH5 | c.2643T>C (p.Asn881=) c.2598T>C (p.Asn866=) n.2850T>C c.2751T>C (p.Asn917=) c.1656T>C (p.Asn552=) c.1245T>C (p.Asn415=) n.2768T>C | gnomAD v4 |
5 | g.13886064A>T | CA359196566 | DNAH5 | c.2643T>A (p.Asn881Lys) c.2598T>A (p.Asn866Lys) n.2850T>A c.2751T>A (p.Asn917Lys) c.1656T>A (p.Asn552Lys) c.1245T>A (p.Asn415Lys) n.2768T>A | |
5 | g.13886065T>A | CA359196570 | DNAH5 | c.2642A>T (p.Asn881Ile) c.2597A>T (p.Asn866Ile) n.2849A>T c.2750A>T (p.Asn917Ile) c.1655A>T (p.Asn552Ile) c.1244A>T (p.Asn415Ile) n.2767A>T | |
5 | g.13886065T>C | CA359196572 | DNAH5 | c.2642A>G (p.Asn881Ser) c.2597A>G (p.Asn866Ser) n.2849A>G c.2750A>G (p.Asn917Ser) c.1655A>G (p.Asn552Ser) c.1244A>G (p.Asn415Ser) n.2767A>G | dbSNP gnomAD v4 |
5 | g.13886065T>G | CA359196575 | DNAH5 | c.2642A>C (p.Asn881Thr) c.2597A>C (p.Asn866Thr) n.2849A>C c.2750A>C (p.Asn917Thr) c.1655A>C (p.Asn552Thr) c.1244A>C (p.Asn415Thr) n.2767A>C | |
5 | g.13886065T= | CA1528483825 | DNAH5 | c.2642A= (p.Asn881=) c.2597A= (p.Asn866=) n.2849A= c.2750A= (p.Asn917=) c.1655A= (p.Asn552=) c.1244A= (p.Asn415=) n.2767A= | |
5 | g.13886066T>A | CA359196578 | DNAH5 | c.2641A>T (p.Asn881Tyr) c.2596A>T (p.Asn866Tyr) n.2848A>T c.2749A>T (p.Asn917Tyr) c.1654A>T (p.Asn552Tyr) c.1243A>T (p.Asn415Tyr) n.2766A>T | |
5 | g.13886066T>C | CA359196581 | DNAH5 | c.2641A>G (p.Asn881Asp) c.2596A>G (p.Asn866Asp) n.2848A>G c.2749A>G (p.Asn917Asp) c.1654A>G (p.Asn552Asp) c.1243A>G (p.Asn415Asp) n.2766A>G | |
5 | g.13886066T>G | CA359196583 | DNAH5 | c.2641A>C (p.Asn881His) c.2596A>C (p.Asn866His) n.2848A>C c.2749A>C (p.Asn917His) c.1654A>C (p.Asn552His) c.1243A>C (p.Asn415His) n.2766A>C | |
5 | g.13886067G>A | CA443273712 | DNAH5 | c.2640C>T (p.Val880=) c.2595C>T (p.Val865=) n.2847C>T c.2748C>T (p.Val916=) c.1653C>T (p.Val551=) c.1242C>T (p.Val414=) n.2765C>T | ClinVar |
5 | g.13886067G>C | CA443273713 | DNAH5 | c.2640C>G (p.Val880=) c.2595C>G (p.Val865=) n.2847C>G c.2748C>G (p.Val916=) c.1653C>G (p.Val551=) c.1242C>G (p.Val414=) n.2765C>G | ClinVar |
5 | g.13886067G= | CA1528483826 | DNAH5 | c.2640C= (p.Val880=) c.2595C= (p.Val865=) n.2847C= c.2748C= (p.Val916=) c.1653C= (p.Val551=) c.1242C= (p.Val414=) n.2765C= | |
5 | g.13886067G>T | CA443273714 | DNAH5 | c.2640C>A (p.Val880=) c.2595C>A (p.Val865=) n.2847C>A c.2748C>A (p.Val916=) c.1653C>A (p.Val551=) c.1242C>A (p.Val414=) n.2765C>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886068A>C | CA359196586 | DNAH5 | c.2639T>G (p.Val880Gly) c.2594T>G (p.Val865Gly) n.2846T>G c.2747T>G (p.Val916Gly) c.1652T>G (p.Val551Gly) c.1241T>G (p.Val414Gly) n.2764T>G | |
5 | g.13886068A>G | CA359196591 | DNAH5 | c.2639T>C (p.Val880Ala) c.2594T>C (p.Val865Ala) n.2846T>C c.2747T>C (p.Val916Ala) c.1652T>C (p.Val551Ala) c.1241T>C (p.Val414Ala) n.2764T>C | |
5 | g.13886068A>T | CA359196589 | DNAH5 | c.2639T>A (p.Val880Asp) c.2594T>A (p.Val865Asp) n.2846T>A c.2747T>A (p.Val916Asp) c.1652T>A (p.Val551Asp) c.1241T>A (p.Val414Asp) n.2764T>A | |
5 | g.13886069C>A | CA359196595 | DNAH5 | c.2638G>T (p.Val880Phe) c.2593G>T (p.Val865Phe) n.2845G>T c.2746G>T (p.Val916Phe) c.1651G>T (p.Val551Phe) c.1240G>T (p.Val414Phe) n.2763G>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886069C= | CA1528483827 | DNAH5 | c.2638G= (p.Val880=) c.2593G= (p.Val865=) n.2845G= c.2746G= (p.Val916=) c.1651G= (p.Val551=) c.1240G= (p.Val414=) n.2763G= | |
5 | g.13886069C>G | CA359196601 | DNAH5 | c.2638G>C (p.Val880Leu) c.2593G>C (p.Val865Leu) n.2845G>C c.2746G>C (p.Val916Leu) c.1651G>C (p.Val551Leu) c.1240G>C (p.Val414Leu) n.2763G>C | |
5 | g.13886069C>T | CA359196604 | DNAH5 | c.2638G>A (p.Val880Ile) c.2593G>A (p.Val865Ile) n.2845G>A c.2746G>A (p.Val916Ile) c.1651G>A (p.Val551Ile) c.1240G>A (p.Val414Ile) n.2763G>A | |
5 | g.13886070T>A | CA443273715 | DNAH5 | c.2637A>T (p.Ala879=) c.2592A>T (p.Ala864=) n.2844A>T c.2745A>T (p.Ala915=) c.1650A>T (p.Ala550=) c.1239A>T (p.Ala413=) n.2762A>T | |
5 | g.13886070T>C | CA443273716 | DNAH5 | c.2637A>G (p.Ala879=) c.2592A>G (p.Ala864=) n.2844A>G c.2745A>G (p.Ala915=) c.1650A>G (p.Ala550=) c.1239A>G (p.Ala413=) n.2762A>G | |
5 | g.13886070T>G | CA443273717 | DNAH5 | c.2637A>C (p.Ala879=) c.2592A>C (p.Ala864=) n.2844A>C c.2745A>C (p.Ala915=) c.1650A>C (p.Ala550=) c.1239A>C (p.Ala413=) n.2762A>C | |
5 | g.13886071G>A | CA359196608 | DNAH5 | c.2636C>T (p.Ala879Val) c.2591C>T (p.Ala864Val) n.2843C>T c.2744C>T (p.Ala915Val) c.1649C>T (p.Ala550Val) c.1238C>T (p.Ala413Val) n.2761C>T | |
5 | g.13886071G>C | CA359196610 | DNAH5 | c.2636C>G (p.Ala879Gly) c.2591C>G (p.Ala864Gly) n.2843C>G c.2744C>G (p.Ala915Gly) c.1649C>G (p.Ala550Gly) c.1238C>G (p.Ala413Gly) n.2761C>G | |
5 | g.13886071G>T | CA359196613 | DNAH5 | c.2636C>A (p.Ala879Glu) c.2591C>A (p.Ala864Glu) n.2843C>A c.2744C>A (p.Ala915Glu) c.1649C>A (p.Ala550Glu) c.1238C>A (p.Ala413Glu) n.2761C>A | |
5 | g.13886072C>A | CA359196621 | DNAH5 | c.2635G>T (p.Ala879Ser) c.2590G>T (p.Ala864Ser) n.2842G>T c.2743G>T (p.Ala915Ser) c.1648G>T (p.Ala550Ser) c.1237G>T (p.Ala413Ser) n.2760G>T | |
5 | g.13886072C>G | CA359196615 | DNAH5 | c.2635G>C (p.Ala879Pro) c.2590G>C (p.Ala864Pro) n.2842G>C c.2743G>C (p.Ala915Pro) c.1648G>C (p.Ala550Pro) c.1237G>C (p.Ala413Pro) n.2760G>C | |
5 | g.13886072C>T | CA359196617 | DNAH5 | c.2635G>A (p.Ala879Thr) c.2590G>A (p.Ala864Thr) n.2842G>A c.2743G>A (p.Ala915Thr) c.1648G>A (p.Ala550Thr) c.1237G>A (p.Ala413Thr) n.2760G>A | gnomAD v4 |
5 | g.13886073C>A | CA359196624 | DNAH5 | c.2634G>T (p.Glu878Asp) c.2589G>T (p.Glu863Asp) n.2841G>T c.2742G>T (p.Glu914Asp) c.1647G>T (p.Glu549Asp) c.1236G>T (p.Glu412Asp) n.2759G>T | dbSNP |
5 | g.13886073C= | CA1528483828 | DNAH5 | c.2634G= (p.Glu878=) c.2589G= (p.Glu863=) n.2841G= c.2742G= (p.Glu914=) c.1647G= (p.Glu549=) c.1236G= (p.Glu412=) n.2759G= | |
5 | g.13886073C>G | CA359196626 | DNAH5 | c.2634G>C (p.Glu878Asp) c.2589G>C (p.Glu863Asp) n.2841G>C c.2742G>C (p.Glu914Asp) c.1647G>C (p.Glu549Asp) c.1236G>C (p.Glu412Asp) n.2759G>C | |
5 | g.13886073C>T | CA443273718 | DNAH5 | c.2634G>A (p.Glu878=) c.2589G>A (p.Glu863=) n.2841G>A c.2742G>A (p.Glu914=) c.1647G>A (p.Glu549=) c.1236G>A (p.Glu412=) n.2759G>A | COSMIC |
5 | g.13886074T>A | CA359196628 | DNAH5 | c.2633A>T (p.Glu878Val) c.2588A>T (p.Glu863Val) n.2840A>T c.2741A>T (p.Glu914Val) c.1646A>T (p.Glu549Val) c.1235A>T (p.Glu412Val) n.2758A>T | |
5 | g.13886074T>C | CA359196630 | DNAH5 | c.2633A>G (p.Glu878Gly) c.2588A>G (p.Glu863Gly) n.2840A>G c.2741A>G (p.Glu914Gly) c.1646A>G (p.Glu549Gly) c.1235A>G (p.Glu412Gly) n.2758A>G | |
5 | g.13886074T>G | CA359196633 | DNAH5 | c.2633A>C (p.Glu878Ala) c.2588A>C (p.Glu863Ala) n.2840A>C c.2741A>C (p.Glu914Ala) c.1646A>C (p.Glu549Ala) c.1235A>C (p.Glu412Ala) n.2758A>C | |
5 | g.13886075C>A | CA359196636 | DNAH5 | c.2632G>T (p.Glu878Ter) c.2587G>T (p.Glu863Ter) n.2839G>T c.2740G>T (p.Glu914Ter) c.1645G>T (p.Glu549Ter) c.1234G>T (p.Glu412Ter) n.2757G>T | |
5 | g.13886075C>G | CA359196639 | DNAH5 | c.2632G>C (p.Glu878Gln) c.2587G>C (p.Glu863Gln) n.2839G>C c.2740G>C (p.Glu914Gln) c.1645G>C (p.Glu549Gln) c.1234G>C (p.Glu412Gln) n.2757G>C | gnomAD v4 |
5 | g.13886075C>T | CA359196638 | DNAH5 | c.2632G>A (p.Glu878Lys) c.2587G>A (p.Glu863Lys) n.2839G>A c.2740G>A (p.Glu914Lys) c.1645G>A (p.Glu549Lys) c.1234G>A (p.Glu412Lys) n.2757G>A | dbSNP |
5 | g.13886076C>A | CA359196641 | DNAH5 | c.2631G>T (p.Glu877Asp) c.2586G>T (p.Glu862Asp) n.2838G>T c.2739G>T (p.Glu913Asp) c.1644G>T (p.Glu548Asp) c.1233G>T (p.Glu411Asp) n.2756G>T | |
5 | g.13886076C>G | CA359196643 | DNAH5 | c.2631G>C (p.Glu877Asp) c.2586G>C (p.Glu862Asp) n.2838G>C c.2739G>C (p.Glu913Asp) c.1644G>C (p.Glu548Asp) c.1233G>C (p.Glu411Asp) n.2756G>C | |
5 | g.13886076C>T | CA443273719 | DNAH5 | c.2631G>A (p.Glu877=) c.2586G>A (p.Glu862=) n.2838G>A c.2739G>A (p.Glu913=) c.1644G>A (p.Glu548=) c.1233G>A (p.Glu411=) n.2756G>A | gnomAD v4 |
5 | g.13886077T>A | CA359196645 | DNAH5 | c.2630A>T (p.Glu877Val) c.2585A>T (p.Glu862Val) n.2837A>T c.2738A>T (p.Glu913Val) c.1643A>T (p.Glu548Val) c.1232A>T (p.Glu411Val) n.2755A>T | |
5 | g.13886077T>C | CA359196648 | DNAH5 | c.2630A>G (p.Glu877Gly) c.2585A>G (p.Glu862Gly) n.2837A>G c.2738A>G (p.Glu913Gly) c.1643A>G (p.Glu548Gly) c.1232A>G (p.Glu411Gly) n.2755A>G | |
5 | g.13886077T>G | CA359196650 | DNAH5 | c.2630A>C (p.Glu877Ala) c.2585A>C (p.Glu862Ala) n.2837A>C c.2738A>C (p.Glu913Ala) c.1643A>C (p.Glu548Ala) c.1232A>C (p.Glu411Ala) n.2755A>C | |
5 | g.13886078C>A | CA359196654 | DNAH5 | c.2629G>T (p.Glu877Ter) c.2584G>T (p.Glu862Ter) n.2836G>T c.2737G>T (p.Glu913Ter) c.1642G>T (p.Glu548Ter) c.1231G>T (p.Glu411Ter) n.2754G>T | |
5 | g.13886078C>G | CA359196656 | DNAH5 | c.2629G>C (p.Glu877Gln) c.2584G>C (p.Glu862Gln) n.2836G>C c.2737G>C (p.Glu913Gln) c.1642G>C (p.Glu548Gln) c.1231G>C (p.Glu411Gln) n.2754G>C | |
5 | g.13886078C>T | CA359196658 | DNAH5 | c.2629G>A (p.Glu877Lys) c.2584G>A (p.Glu862Lys) n.2836G>A c.2737G>A (p.Glu913Lys) c.1642G>A (p.Glu548Lys) c.1231G>A (p.Glu411Lys) n.2754G>A | |
5 | g.13886079C>A | CA443273721 | DNAH5 | c.2628G>T (p.Val876=) c.2583G>T (p.Val861=) n.2835G>T c.2736G>T (p.Val912=) c.1641G>T (p.Val547=) c.1230G>T (p.Val410=) n.2753G>T | gnomAD v4 |
5 | g.13886079C= | CA1528483829 | DNAH5 | c.2628G= (p.Val876=) c.2583G= (p.Val861=) n.2835G= c.2736G= (p.Val912=) c.1641G= (p.Val547=) c.1230G= (p.Val410=) n.2753G= | |
5 | g.13886079C>G | CA443273722 | DNAH5 | c.2628G>C (p.Val876=) c.2583G>C (p.Val861=) n.2835G>C c.2736G>C (p.Val912=) c.1641G>C (p.Val547=) c.1230G>C (p.Val410=) n.2753G>C | |
5 | g.13886079C>T | CA443273720 | DNAH5 | c.2628G>A (p.Val876=) c.2583G>A (p.Val861=) n.2835G>A c.2736G>A (p.Val912=) c.1641G>A (p.Val547=) c.1230G>A (p.Val410=) n.2753G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886080A>C | CA359196662 | DNAH5 | c.2627T>G (p.Val876Gly) c.2582T>G (p.Val861Gly) n.2834T>G c.2735T>G (p.Val912Gly) c.1640T>G (p.Val547Gly) c.1229T>G (p.Val410Gly) n.2752T>G | |
5 | g.13886080A>G | CA359196664 | DNAH5 | c.2627T>C (p.Val876Ala) c.2582T>C (p.Val861Ala) n.2834T>C c.2735T>C (p.Val912Ala) c.1640T>C (p.Val547Ala) c.1229T>C (p.Val410Ala) n.2752T>C | |
5 | g.13886080A>T | CA359196667 | DNAH5 | c.2627T>A (p.Val876Glu) c.2582T>A (p.Val861Glu) n.2834T>A c.2735T>A (p.Val912Glu) c.1640T>A (p.Val547Glu) c.1229T>A (p.Val410Glu) n.2752T>A | |
5 | g.13886081C>A | CA359196674 | DNAH5 | c.2626G>T (p.Val876Leu) c.2581G>T (p.Val861Leu) n.2833G>T c.2734G>T (p.Val912Leu) c.1639G>T (p.Val547Leu) c.1228G>T (p.Val410Leu) n.2751G>T | |
5 | g.13886081C= | CA1528483830 | DNAH5 | c.2626G= (p.Val876=) c.2581G= (p.Val861=) n.2833G= c.2734G= (p.Val912=) c.1639G= (p.Val547=) c.1228G= (p.Val410=) n.2751G= | |
5 | g.13886081C>G | CA359196671 | DNAH5 | c.2626G>C (p.Val876Leu) c.2581G>C (p.Val861Leu) n.2833G>C c.2734G>C (p.Val912Leu) c.1639G>C (p.Val547Leu) c.1228G>C (p.Val410Leu) n.2751G>C | |
5 | g.13886081C>T | CA113933815 | DNAH5 | c.2626G>A (p.Val876Met) c.2581G>A (p.Val861Met) n.2833G>A c.2734G>A (p.Val912Met) c.1639G>A (p.Val547Met) c.1228G>A (p.Val410Met) n.2751G>A | dbSNP |
5 | g.13886082T>A | CA359196677 | DNAH5 | c.2625A>T (p.Leu875Phe) c.2580A>T (p.Leu860Phe) n.2832A>T c.2733A>T (p.Leu911Phe) c.1638A>T (p.Leu546Phe) c.1227A>T (p.Leu409Phe) n.2750A>T | |
5 | g.13886082T>C | CA443273723 | DNAH5 | c.2625A>G (p.Leu875=) c.2580A>G (p.Leu860=) n.2832A>G c.2733A>G (p.Leu911=) c.1638A>G (p.Leu546=) c.1227A>G (p.Leu409=) n.2750A>G | |
5 | g.13886082T>G | CA359196680 | DNAH5 | c.2625A>C (p.Leu875Phe) c.2580A>C (p.Leu860Phe) n.2832A>C c.2733A>C (p.Leu911Phe) c.1638A>C (p.Leu546Phe) c.1227A>C (p.Leu409Phe) n.2750A>C | |
5 | g.13886083A>C | CA359196682 | DNAH5 | c.2624T>G (p.Leu875Ter) c.2579T>G (p.Leu860Ter) n.2831T>G c.2732T>G (p.Leu911Ter) c.1637T>G (p.Leu546Ter) c.1226T>G (p.Leu409Ter) n.2749T>G | |
5 | g.13886083A>G | CA359196683 | DNAH5 | c.2624T>C (p.Leu875Ser) c.2579T>C (p.Leu860Ser) n.2831T>C c.2732T>C (p.Leu911Ser) c.1637T>C (p.Leu546Ser) c.1226T>C (p.Leu409Ser) n.2749T>C | |
5 | g.13886083A>T | CA359196685 | DNAH5 | c.2624T>A (p.Leu875Ter) c.2579T>A (p.Leu860Ter) n.2831T>A c.2732T>A (p.Leu911Ter) c.1637T>A (p.Leu546Ter) c.1226T>A (p.Leu409Ter) n.2749T>A | |
5 | g.13886084A>C | CA359196688 | DNAH5 | c.2623T>G (p.Leu875Val) c.2578T>G (p.Leu860Val) n.2830T>G c.2731T>G (p.Leu911Val) c.1636T>G (p.Leu546Val) c.1225T>G (p.Leu409Val) n.2748T>G | |
5 | g.13886084A>G | CA443273724 | DNAH5 | c.2623T>C (p.Leu875=) c.2578T>C (p.Leu860=) n.2830T>C c.2731T>C (p.Leu911=) c.1636T>C (p.Leu546=) c.1225T>C (p.Leu409=) n.2748T>C | ClinVar dbSNP gnomAD v4 |
5 | g.13886084A>T | CA359196690 | DNAH5 | c.2623T>A (p.Leu875Ile) c.2578T>A (p.Leu860Ile) n.2830T>A c.2731T>A (p.Leu911Ile) c.1636T>A (p.Leu546Ile) c.1225T>A (p.Leu409Ile) n.2748T>A | |
5 | g.13886085T>A | CA443273727 | DNAH5 | c.2622A>T (p.Ser874=) c.2577A>T (p.Ser859=) n.2829A>T c.2730A>T (p.Ser910=) c.1635A>T (p.Ser545=) c.1224A>T (p.Ser408=) n.2747A>T | gnomAD v4 |
5 | g.13886085T>C | CA443273725 | DNAH5 | c.2622A>G (p.Ser874=) c.2577A>G (p.Ser859=) n.2829A>G c.2730A>G (p.Ser910=) c.1635A>G (p.Ser545=) c.1224A>G (p.Ser408=) n.2747A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886085T>G | CA443273726 | DNAH5 | c.2622A>C (p.Ser874=) c.2577A>C (p.Ser859=) n.2829A>C c.2730A>C (p.Ser910=) c.1635A>C (p.Ser545=) c.1224A>C (p.Ser408=) n.2747A>C | gnomAD v4 |
5 | g.13886085T= | CA1528483831 | DNAH5 | c.2622A= (p.Ser874=) c.2577A= (p.Ser859=) n.2829A= c.2730A= (p.Ser910=) c.1635A= (p.Ser545=) c.1224A= (p.Ser408=) n.2747A= | |
5 | g.13886086G>A | CA359196696 | DNAH5 | c.2621C>T (p.Ser874Leu) c.2576C>T (p.Ser859Leu) n.2828C>T c.2729C>T (p.Ser910Leu) c.1634C>T (p.Ser545Leu) c.1223C>T (p.Ser408Leu) n.2746C>T | |
5 | g.13886086G>C | CA359196692 | DNAH5 | c.2621C>G (p.Ser874Ter) c.2576C>G (p.Ser859Ter) n.2828C>G c.2729C>G (p.Ser910Ter) c.1634C>G (p.Ser545Ter) c.1223C>G (p.Ser408Ter) n.2746C>G | |
5 | g.13886086G>T | CA359196694 | DNAH5 | c.2621C>A (p.Ser874Ter) c.2576C>A (p.Ser859Ter) n.2828C>A c.2729C>A (p.Ser910Ter) c.1634C>A (p.Ser545Ter) c.1223C>A (p.Ser408Ter) n.2746C>A | |
5 | g.13886087A>C | CA359196698 | DNAH5 | c.2620T>G (p.Ser874Ala) c.2575T>G (p.Ser859Ala) n.2827T>G c.2728T>G (p.Ser910Ala) c.1633T>G (p.Ser545Ala) c.1222T>G (p.Ser408Ala) n.2745T>G | |
5 | g.13886087A>G | CA359196700 | DNAH5 | c.2620T>C (p.Ser874Pro) c.2575T>C (p.Ser859Pro) n.2827T>C c.2728T>C (p.Ser910Pro) c.1633T>C (p.Ser545Pro) c.1222T>C (p.Ser408Pro) n.2745T>C | gnomAD v4 |
5 | g.13886087A>T | CA359196702 | DNAH5 | c.2620T>A (p.Ser874Thr) c.2575T>A (p.Ser859Thr) n.2827T>A c.2728T>A (p.Ser910Thr) c.1633T>A (p.Ser545Thr) c.1222T>A (p.Ser408Thr) n.2745T>A | |
5 | g.13886088G>A | CA443273728 | DNAH5 | c.2619C>T (p.Ser873=) c.2574C>T (p.Ser858=) n.2826C>T c.2727C>T (p.Ser909=) c.1632C>T (p.Ser544=) c.1221C>T (p.Ser407=) n.2744C>T | |
5 | g.13886088G>C | CA359196705 | DNAH5 | c.2619C>G (p.Ser873Arg) c.2574C>G (p.Ser858Arg) n.2826C>G c.2727C>G (p.Ser909Arg) c.1632C>G (p.Ser544Arg) c.1221C>G (p.Ser407Arg) n.2744C>G | |
5 | g.13886088G>T | CA359196707 | DNAH5 | c.2619C>A (p.Ser873Arg) c.2574C>A (p.Ser858Arg) n.2826C>A c.2727C>A (p.Ser909Arg) c.1632C>A (p.Ser544Arg) c.1221C>A (p.Ser407Arg) n.2744C>A | |
5 | g.13886089C>A | CA359196712 | DNAH5 | c.2618G>T (p.Ser873Ile) c.2573G>T (p.Ser858Ile) n.2825G>T c.2726G>T (p.Ser909Ile) c.1631G>T (p.Ser544Ile) c.1220G>T (p.Ser407Ile) n.2743G>T | |
5 | g.13886089C= | CA1528483832 | DNAH5 | c.2618G= (p.Ser873=) c.2573G= (p.Ser858=) n.2825G= c.2726G= (p.Ser909=) c.1631G= (p.Ser544=) c.1220G= (p.Ser407=) n.2743G= | |
5 | g.13886089C>G | CA359196710 | DNAH5 | c.2618G>C (p.Ser873Thr) c.2573G>C (p.Ser858Thr) n.2825G>C c.2726G>C (p.Ser909Thr) c.1631G>C (p.Ser544Thr) c.1220G>C (p.Ser407Thr) n.2743G>C | |
5 | g.13886089C>T | CA3204527 | DNAH5 | c.2618G>A (p.Ser873Asn) c.2573G>A (p.Ser858Asn) n.2825G>A c.2726G>A (p.Ser909Asn) c.1631G>A (p.Ser544Asn) c.1220G>A (p.Ser407Asn) n.2743G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886090T>A | CA359196716 | DNAH5 | c.2617A>T (p.Ser873Cys) c.2572A>T (p.Ser858Cys) n.2824A>T c.2725A>T (p.Ser909Cys) c.1630A>T (p.Ser544Cys) c.1219A>T (p.Ser407Cys) n.2742A>T | |
5 | g.13886090T>C | CA359196719 | DNAH5 | c.2617A>G (p.Ser873Gly) c.2572A>G (p.Ser858Gly) n.2824A>G c.2725A>G (p.Ser909Gly) c.1630A>G (p.Ser544Gly) c.1219A>G (p.Ser407Gly) n.2742A>G | gnomAD v4 |
5 | g.13886090T>G | CA359196721 | DNAH5 | c.2617A>C (p.Ser873Arg) c.2572A>C (p.Ser858Arg) n.2824A>C c.2725A>C (p.Ser909Arg) c.1630A>C (p.Ser544Arg) c.1219A>C (p.Ser407Arg) n.2742A>C | |
5 | g.13886091T>A | CA359196723 | DNAH5 | c.2616A>T (p.Lys872Asn) c.2571A>T (p.Lys857Asn) n.2823A>T c.2724A>T (p.Lys908Asn) c.1629A>T (p.Lys543Asn) c.1218A>T (p.Lys406Asn) n.2741A>T | |
5 | g.13886091T>C | CA443273729 | DNAH5 | c.2616A>G (p.Lys872=) c.2571A>G (p.Lys857=) n.2823A>G c.2724A>G (p.Lys908=) c.1629A>G (p.Lys543=) c.1218A>G (p.Lys406=) n.2741A>G | |
5 | g.13886091T>G | CA359196726 | DNAH5 | c.2616A>C (p.Lys872Asn) c.2571A>C (p.Lys857Asn) n.2823A>C c.2724A>C (p.Lys908Asn) c.1629A>C (p.Lys543Asn) c.1218A>C (p.Lys406Asn) n.2741A>C | |
5 | g.13886092T>A | CA359196730 | DNAH5 | c.2615A>T (p.Lys872Ile) c.2570A>T (p.Lys857Ile) n.2822A>T c.2723A>T (p.Lys908Ile) c.1628A>T (p.Lys543Ile) c.1217A>T (p.Lys406Ile) n.2740A>T | gnomAD v4 |
5 | g.13886092T>C | CA359196732 | DNAH5 | c.2615A>G (p.Lys872Arg) c.2570A>G (p.Lys857Arg) n.2822A>G c.2723A>G (p.Lys908Arg) c.1628A>G (p.Lys543Arg) c.1217A>G (p.Lys406Arg) n.2740A>G | gnomAD v4 COSMIC |
5 | g.13886092T>G | CA359196741 | DNAH5 | c.2615A>C (p.Lys872Thr) c.2570A>C (p.Lys857Thr) n.2822A>C c.2723A>C (p.Lys908Thr) c.1628A>C (p.Lys543Thr) c.1217A>C (p.Lys406Thr) n.2740A>C | gnomAD v4 |
5 | g.13886093T>A | CA359196743 | DNAH5 | c.2614A>T (p.Lys872Ter) c.2569A>T (p.Lys857Ter) n.2821A>T c.2722A>T (p.Lys908Ter) c.1627A>T (p.Lys543Ter) c.1216A>T (p.Lys406Ter) n.2739A>T | gnomAD v4 |
5 | g.13886093T>C | CA359196747 | DNAH5 | c.2614A>G (p.Lys872Glu) c.2569A>G (p.Lys857Glu) n.2821A>G c.2722A>G (p.Lys908Glu) c.1627A>G (p.Lys543Glu) c.1216A>G (p.Lys406Glu) n.2739A>G | |
5 | g.13886093T>G | CA359196748 | DNAH5 | c.2614A>C (p.Lys872Gln) c.2569A>C (p.Lys857Gln) n.2821A>C c.2722A>C (p.Lys908Gln) c.1627A>C (p.Lys543Gln) c.1216A>C (p.Lys406Gln) n.2739A>C | |
5 | g.13886094A>C | CA359196751 | DNAH5 | c.2613T>G (p.Phe871Leu) c.2568T>G (p.Phe856Leu) n.2820T>G c.2721T>G (p.Phe907Leu) c.1626T>G (p.Phe542Leu) c.1215T>G (p.Phe405Leu) n.2738T>G | |
5 | g.13886094A>G | CA443273730 | DNAH5 | c.2613T>C (p.Phe871=) c.2568T>C (p.Phe856=) n.2820T>C c.2721T>C (p.Phe907=) c.1626T>C (p.Phe542=) c.1215T>C (p.Phe405=) n.2738T>C | gnomAD v4 |
5 | g.13886094A>T | CA359196762 | DNAH5 | c.2613T>A (p.Phe871Leu) c.2568T>A (p.Phe856Leu) n.2820T>A c.2721T>A (p.Phe907Leu) c.1626T>A (p.Phe542Leu) c.1215T>A (p.Phe405Leu) n.2738T>A | gnomAD v4 |
5 | g.13886095A>C | CA359196765 | DNAH5 | c.2612T>G (p.Phe871Cys) c.2567T>G (p.Phe856Cys) n.2819T>G c.2720T>G (p.Phe907Cys) c.1625T>G (p.Phe542Cys) c.1214T>G (p.Phe405Cys) n.2737T>G | |
5 | g.13886095A>G | CA359196769 | DNAH5 | c.2612T>C (p.Phe871Ser) c.2567T>C (p.Phe856Ser) n.2819T>C c.2720T>C (p.Phe907Ser) c.1625T>C (p.Phe542Ser) c.1214T>C (p.Phe405Ser) n.2737T>C | |
5 | g.13886095A>T | CA359196767 | DNAH5 | c.2612T>A (p.Phe871Tyr) c.2567T>A (p.Phe856Tyr) n.2819T>A c.2720T>A (p.Phe907Tyr) c.1625T>A (p.Phe542Tyr) c.1214T>A (p.Phe405Tyr) n.2737T>A | |
5 | g.13886096A>C | CA359196771 | DNAH5 | c.2611T>G (p.Phe871Val) c.2566T>G (p.Phe856Val) n.2818T>G c.2719T>G (p.Phe907Val) c.1624T>G (p.Phe542Val) c.1213T>G (p.Phe405Val) n.2736T>G | |
5 | g.13886096A>G | CA359196773 | DNAH5 | c.2611T>C (p.Phe871Leu) c.2566T>C (p.Phe856Leu) n.2818T>C c.2719T>C (p.Phe907Leu) c.1624T>C (p.Phe542Leu) c.1213T>C (p.Phe405Leu) n.2736T>C | |
5 | g.13886096A>T | CA359196775 | DNAH5 | c.2611T>A (p.Phe871Ile) c.2566T>A (p.Phe856Ile) n.2818T>A c.2719T>A (p.Phe907Ile) c.1624T>A (p.Phe542Ile) c.1213T>A (p.Phe405Ile) n.2736T>A | |
5 | g.13886097A= | CA1528483833 | DNAH5 | c.2610T= (p.His870=) c.2565T= (p.His855=) n.2817T= c.2718T= (p.His906=) c.1623T= (p.His541=) c.1212T= (p.His404=) n.2735T= | |
5 | g.13886097A>C | CA359196777 | DNAH5 | c.2610T>G (p.His870Gln) c.2565T>G (p.His855Gln) n.2817T>G c.2718T>G (p.His906Gln) c.1623T>G (p.His541Gln) c.1212T>G (p.His404Gln) n.2735T>G | gnomAD v4 |
5 | g.13886097A>G | CA443273731 | DNAH5 | c.2610T>C (p.His870=) c.2565T>C (p.His855=) n.2817T>C c.2718T>C (p.His906=) c.1623T>C (p.His541=) c.1212T>C (p.His404=) n.2735T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886097A>T | CA359196780 | DNAH5 | c.2610T>A (p.His870Gln) c.2565T>A (p.His855Gln) n.2817T>A c.2718T>A (p.His906Gln) c.1623T>A (p.His541Gln) c.1212T>A (p.His404Gln) n.2735T>A | |
5 | g.13886098T>A | CA359196786 | DNAH5 | c.2609A>T (p.His870Leu) c.2564A>T (p.His855Leu) n.2816A>T c.2717A>T (p.His906Leu) c.1622A>T (p.His541Leu) c.1211A>T (p.His404Leu) n.2734A>T | |
5 | g.13886098T>C | CA3204528 | DNAH5 | c.2609A>G (p.His870Arg) c.2564A>G (p.His855Arg) n.2816A>G c.2717A>G (p.His906Arg) c.1622A>G (p.His541Arg) c.1211A>G (p.His404Arg) n.2734A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886098T>G | CA359196789 | DNAH5 | c.2609A>C (p.His870Pro) c.2564A>C (p.His855Pro) n.2816A>C c.2717A>C (p.His906Pro) c.1622A>C (p.His541Pro) c.1211A>C (p.His404Pro) n.2734A>C | |
5 | g.13886098T= | CA1528483834 | DNAH5 | c.2609A= (p.His870=) c.2564A= (p.His855=) n.2816A= c.2717A= (p.His906=) c.1622A= (p.His541=) c.1211A= (p.His404=) n.2734A= | |
5 | g.13886099G>A | CA359196791 | DNAH5 | c.2608C>T (p.His870Tyr) c.2563C>T (p.His855Tyr) n.2815C>T c.2716C>T (p.His906Tyr) c.1621C>T (p.His541Tyr) c.1210C>T (p.His404Tyr) n.2733C>T | COSMIC |
5 | g.13886099G>C | CA359196794 | DNAH5 | c.2608C>G (p.His870Asp) c.2563C>G (p.His855Asp) n.2815C>G c.2716C>G (p.His906Asp) c.1621C>G (p.His541Asp) c.1210C>G (p.His404Asp) n.2733C>G | |
5 | g.13886099G>T | CA359196797 | DNAH5 | c.2608C>A (p.His870Asn) c.2563C>A (p.His855Asn) n.2815C>A c.2716C>A (p.His906Asn) c.1621C>A (p.His541Asn) c.1210C>A (p.His404Asn) n.2733C>A | gnomAD v4 |
5 | g.13886100T>A | CA443273732 | DNAH5 | c.2607A>T (p.Leu869=) c.2562A>T (p.Leu854=) n.2814A>T c.2715A>T (p.Leu905=) c.1620A>T (p.Leu540=) c.1209A>T (p.Leu403=) n.2732A>T | |
5 | g.13886100T>C | CA443273733 | DNAH5 | c.2607A>G (p.Leu869=) c.2562A>G (p.Leu854=) n.2814A>G c.2715A>G (p.Leu905=) c.1620A>G (p.Leu540=) c.1209A>G (p.Leu403=) n.2732A>G | dbSNP gnomAD v4 |
5 | g.13886100T>G | CA443273734 | DNAH5 | c.2607A>C (p.Leu869=) c.2562A>C (p.Leu854=) n.2814A>C c.2715A>C (p.Leu905=) c.1620A>C (p.Leu540=) c.1209A>C (p.Leu403=) n.2732A>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886100T= | CA1528483835 | DNAH5 | c.2607A= (p.Leu869=) c.2562A= (p.Leu854=) n.2814A= c.2715A= (p.Leu905=) c.1620A= (p.Leu540=) c.1209A= (p.Leu403=) n.2732A= | |
5 | g.13886101A>C | CA359196799 | DNAH5 | c.2606T>G (p.Leu869Arg) c.2561T>G (p.Leu854Arg) n.2813T>G c.2714T>G (p.Leu905Arg) c.1619T>G (p.Leu540Arg) c.1208T>G (p.Leu403Arg) n.2731T>G | |
5 | g.13886101A>G | CA359196801 | DNAH5 | c.2606T>C (p.Leu869Pro) c.2561T>C (p.Leu854Pro) n.2813T>C c.2714T>C (p.Leu905Pro) c.1619T>C (p.Leu540Pro) c.1208T>C (p.Leu403Pro) n.2731T>C | |
5 | g.13886101A>T | CA359196803 | DNAH5 | c.2606T>A (p.Leu869Gln) c.2561T>A (p.Leu854Gln) n.2813T>A c.2714T>A (p.Leu905Gln) c.1619T>A (p.Leu540Gln) c.1208T>A (p.Leu403Gln) n.2731T>A | gnomAD v4 |
5 | g.13886102G>A | CA443273736 | DNAH5 | c.2605C>T (p.Leu869=) c.2560C>T (p.Leu854=) n.2812C>T c.2713C>T (p.Leu905=) c.1618C>T (p.Leu540=) c.1207C>T (p.Leu403=) n.2730C>T | gnomAD v4 |
5 | g.13886102G>C | CA359196806 | DNAH5 | c.2605C>G (p.Leu869Val) c.2560C>G (p.Leu854Val) n.2812C>G c.2713C>G (p.Leu905Val) c.1618C>G (p.Leu540Val) c.1207C>G (p.Leu403Val) n.2730C>G | |
5 | g.13886102G>T | CA359196808 | DNAH5 | c.2605C>A (p.Leu869Ile) c.2560C>A (p.Leu854Ile) n.2812C>A c.2713C>A (p.Leu905Ile) c.1618C>A (p.Leu540Ile) c.1207C>A (p.Leu403Ile) n.2730C>A | dbSNP gnomAD v4 |
5 | g.13886103T>A | CA443273737 | DNAH5 | c.2604A>T (p.Ile868=) c.2559A>T (p.Ile853=) n.2811A>T c.2712A>T (p.Ile904=) c.1617A>T (p.Ile539=) c.1206A>T (p.Ile402=) n.2729A>T | gnomAD v4 |
5 | g.13886103T>C | CA359196815 | DNAH5 | c.2604A>G (p.Ile868Met) c.2559A>G (p.Ile853Met) n.2811A>G c.2712A>G (p.Ile904Met) c.1617A>G (p.Ile539Met) c.1206A>G (p.Ile402Met) n.2729A>G | |
5 | g.13886103T>G | CA443273738 | DNAH5 | c.2604A>C (p.Ile868=) c.2559A>C (p.Ile853=) n.2811A>C c.2712A>C (p.Ile904=) c.1617A>C (p.Ile539=) c.1206A>C (p.Ile402=) n.2729A>C | |
5 | g.13886104A= | CA1528483836 | DNAH5 | c.2603T= (p.Ile868=) c.2558T= (p.Ile853=) n.2810T= c.2711T= (p.Ile904=) c.1616T= (p.Ile539=) c.1205T= (p.Ile402=) n.2728T= | |
5 | g.13886104A>C | CA359196818 | DNAH5 | c.2603T>G (p.Ile868Arg) c.2558T>G (p.Ile853Arg) n.2810T>G c.2711T>G (p.Ile904Arg) c.1616T>G (p.Ile539Arg) c.1205T>G (p.Ile402Arg) n.2728T>G | |
5 | g.13886104A>G | CA359196819 | DNAH5 | c.2603T>C (p.Ile868Thr) c.2558T>C (p.Ile853Thr) n.2810T>C c.2711T>C (p.Ile904Thr) c.1616T>C (p.Ile539Thr) c.1205T>C (p.Ile402Thr) n.2728T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886104A>T | CA359196820 | DNAH5 | c.2603T>A (p.Ile868Lys) c.2558T>A (p.Ile853Lys) n.2810T>A c.2711T>A (p.Ile904Lys) c.1616T>A (p.Ile539Lys) c.1205T>A (p.Ile402Lys) n.2728T>A | |
5 | g.13886105T>A | CA359196823 | DNAH5 | c.2602A>T (p.Ile868Leu) c.2557A>T (p.Ile853Leu) n.2809A>T c.2710A>T (p.Ile904Leu) c.1615A>T (p.Ile539Leu) c.1204A>T (p.Ile402Leu) n.2727A>T | gnomAD v4 |
5 | g.13886105T>C | CA359196825 | DNAH5 | c.2602A>G (p.Ile868Val) c.2557A>G (p.Ile853Val) n.2809A>G c.2710A>G (p.Ile904Val) c.1615A>G (p.Ile539Val) c.1204A>G (p.Ile402Val) n.2727A>G | dbSNP |
5 | g.13886105T>G | CA359196826 | DNAH5 | c.2602A>C (p.Ile868Leu) c.2557A>C (p.Ile853Leu) n.2809A>C c.2710A>C (p.Ile904Leu) c.1615A>C (p.Ile539Leu) c.1204A>C (p.Ile402Leu) n.2727A>C | |
5 | g.13886105T= | CA1528483837 | DNAH5 | c.2602A= (p.Ile868=) c.2557A= (p.Ile853=) n.2809A= c.2710A= (p.Ile904=) c.1615A= (p.Ile539=) c.1204A= (p.Ile402=) n.2727A= | |
5 | g.13886106T>A | CA359196830 | DNAH5 | c.2601A>T (p.Gln867His) c.2556A>T (p.Gln852His) n.2808A>T c.2709A>T (p.Gln903His) c.1614A>T (p.Gln538His) c.1203A>T (p.Gln401His) n.2726A>T | gnomAD v4 |
5 | g.13886106T>C | CA443273739 | DNAH5 | c.2601A>G (p.Gln867=) c.2556A>G (p.Gln852=) n.2808A>G c.2709A>G (p.Gln903=) c.1614A>G (p.Gln538=) c.1203A>G (p.Gln401=) n.2726A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886106T>G | CA359196832 | DNAH5 | c.2601A>C (p.Gln867His) c.2556A>C (p.Gln852His) n.2808A>C c.2709A>C (p.Gln903His) c.1614A>C (p.Gln538His) c.1203A>C (p.Gln401His) n.2726A>C | dbSNP gnomAD v4 |
5 | g.13886106T= | CA1528483838 | DNAH5 | c.2601A= (p.Gln867=) c.2556A= (p.Gln852=) n.2808A= c.2709A= (p.Gln903=) c.1614A= (p.Gln538=) c.1203A= (p.Gln401=) n.2726A= | |
5 | g.13886107T>A | CA359196833 | DNAH5 | c.2600A>T (p.Gln867Leu) c.2555A>T (p.Gln852Leu) n.2807A>T c.2708A>T (p.Gln903Leu) c.1613A>T (p.Gln538Leu) c.1202A>T (p.Gln401Leu) n.2725A>T | |
5 | g.13886107T>C | CA359196834 | DNAH5 | c.2600A>G (p.Gln867Arg) c.2555A>G (p.Gln852Arg) n.2807A>G c.2708A>G (p.Gln903Arg) c.1613A>G (p.Gln538Arg) c.1202A>G (p.Gln401Arg) n.2725A>G | |
5 | g.13886107T>G | CA359196835 | DNAH5 | c.2600A>C (p.Gln867Pro) c.2555A>C (p.Gln852Pro) n.2807A>C c.2708A>C (p.Gln903Pro) c.1613A>C (p.Gln538Pro) c.1202A>C (p.Gln401Pro) n.2725A>C | |
5 | g.13886108G>A | CA359196843 | DNAH5 | c.2599C>T (p.Gln867Ter) c.2554C>T (p.Gln852Ter) n.2806C>T c.2707C>T (p.Gln903Ter) c.1612C>T (p.Gln538Ter) c.1201C>T (p.Gln401Ter) n.2724C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886108G>C | CA359196837 | DNAH5 | c.2599C>G (p.Gln867Glu) c.2554C>G (p.Gln852Glu) n.2806C>G c.2707C>G (p.Gln903Glu) c.1612C>G (p.Gln538Glu) c.1201C>G (p.Gln401Glu) n.2724C>G | |
5 | g.13886108G= | CA1528483839 | DNAH5 | c.2599C= (p.Gln867=) c.2554C= (p.Gln852=) n.2806C= c.2707C= (p.Gln903=) c.1612C= (p.Gln538=) c.1201C= (p.Gln401=) n.2724C= | |
5 | g.13886108G>T | CA359196839 | DNAH5 | c.2599C>A (p.Gln867Lys) c.2554C>A (p.Gln852Lys) n.2806C>A c.2707C>A (p.Gln903Lys) c.1612C>A (p.Gln538Lys) c.1201C>A (p.Gln401Lys) n.2724C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886109T>A | CA443273740 | DNAH5 | c.2598A>T (p.Ala866=) c.2553A>T (p.Ala851=) n.2805A>T c.2706A>T (p.Ala902=) c.1611A>T (p.Ala537=) c.1200A>T (p.Ala400=) n.2723A>T | |
5 | g.13886109T>C | CA443273741 | DNAH5 | c.2598A>G (p.Ala866=) c.2553A>G (p.Ala851=) n.2805A>G c.2706A>G (p.Ala902=) c.1611A>G (p.Ala537=) c.1200A>G (p.Ala400=) n.2723A>G | ClinVar |
5 | g.13886109T>G | CA443273742 | DNAH5 | c.2598A>C (p.Ala866=) c.2553A>C (p.Ala851=) n.2805A>C c.2706A>C (p.Ala902=) c.1611A>C (p.Ala537=) c.1200A>C (p.Ala400=) n.2723A>C | |
5 | g.13886110G>A | CA359196844 | DNAH5 | c.2597C>T (p.Ala866Val) c.2552C>T (p.Ala851Val) n.2804C>T c.2705C>T (p.Ala902Val) c.1610C>T (p.Ala537Val) c.1199C>T (p.Ala400Val) n.2722C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886110G>C | CA359196846 | DNAH5 | c.2597C>G (p.Ala866Gly) c.2552C>G (p.Ala851Gly) n.2804C>G c.2705C>G (p.Ala902Gly) c.1610C>G (p.Ala537Gly) c.1199C>G (p.Ala400Gly) n.2722C>G | |
5 | g.13886110G= | CA1528483840 | DNAH5 | c.2597C= (p.Ala866=) c.2552C= (p.Ala851=) n.2804C= c.2705C= (p.Ala902=) c.1610C= (p.Ala537=) c.1199C= (p.Ala400=) n.2722C= | |
5 | g.13886110G>T | CA3204529 | DNAH5 | c.2597C>A (p.Ala866Glu) c.2552C>A (p.Ala851Glu) n.2804C>A c.2705C>A (p.Ala902Glu) c.1610C>A (p.Ala537Glu) c.1199C>A (p.Ala400Glu) n.2722C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13886111C>A | CA359196852 | DNAH5 | c.2596G>T (p.Ala866Ser) c.2551G>T (p.Ala851Ser) n.2803G>T c.2704G>T (p.Ala902Ser) c.1609G>T (p.Ala537Ser) c.1198G>T (p.Ala400Ser) n.2721G>T | gnomAD v3 gnomAD v4 |
5 | g.13886111C>G | CA359196858 | DNAH5 | c.2596G>C (p.Ala866Pro) c.2551G>C (p.Ala851Pro) n.2803G>C c.2704G>C (p.Ala902Pro) c.1609G>C (p.Ala537Pro) c.1198G>C (p.Ala400Pro) n.2721G>C | |
5 | g.13886111C>T | CA359196859 | DNAH5 | c.2596G>A (p.Ala866Thr) c.2551G>A (p.Ala851Thr) n.2803G>A c.2704G>A (p.Ala902Thr) c.1609G>A (p.Ala537Thr) c.1198G>A (p.Ala400Thr) n.2721G>A | gnomAD v4 |
5 | g.13886112A>C | CA443273743 | DNAH5 | c.2595T>G (p.Gly865=) c.2550T>G (p.Gly850=) n.2802T>G c.2703T>G (p.Gly901=) c.1608T>G (p.Gly536=) c.1197T>G (p.Gly399=) n.2720T>G | dbSNP gnomAD v4 |
5 | g.13886112A>G | CA443273745 | DNAH5 | c.2595T>C (p.Gly865=) c.2550T>C (p.Gly850=) n.2802T>C c.2703T>C (p.Gly901=) c.1608T>C (p.Gly536=) c.1197T>C (p.Gly399=) n.2720T>C | gnomAD v4 |
5 | g.13886112A>T | CA443273744 | DNAH5 | c.2595T>A (p.Gly865=) c.2550T>A (p.Gly850=) n.2802T>A c.2703T>A (p.Gly901=) c.1608T>A (p.Gly536=) c.1197T>A (p.Gly399=) n.2720T>A | |
5 | g.13886113C>A | CA10619137 | DNAH5 | c.2594G>T (p.Gly865Val) c.2549G>T (p.Gly850Val) n.2801G>T c.2702G>T (p.Gly901Val) c.1607G>T (p.Gly536Val) c.1196G>T (p.Gly399Val) n.2719G>T | ClinVar dbSNP gnomAD v4 |
5 | g.13886113C= | CA1528483841 | DNAH5 | c.2594G= (p.Gly865=) c.2549G= (p.Gly850=) n.2801G= c.2702G= (p.Gly901=) c.1607G= (p.Gly536=) c.1196G= (p.Gly399=) n.2719G= | |
5 | g.13886113C>G | CA359196861 | DNAH5 | c.2594G>C (p.Gly865Ala) c.2549G>C (p.Gly850Ala) n.2801G>C c.2702G>C (p.Gly901Ala) c.1607G>C (p.Gly536Ala) c.1196G>C (p.Gly399Ala) n.2719G>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886113C>T | CA359196862 | DNAH5 | c.2594G>A (p.Gly865Asp) c.2549G>A (p.Gly850Asp) n.2801G>A c.2702G>A (p.Gly901Asp) c.1607G>A (p.Gly536Asp) c.1196G>A (p.Gly399Asp) n.2719G>A | dbSNP gnomAD v4 |
5 | g.13886114C>A | CA359196865 | DNAH5 | c.2593G>T (p.Gly865Cys) c.2548G>T (p.Gly850Cys) n.2800G>T c.2701G>T (p.Gly901Cys) c.1606G>T (p.Gly536Cys) c.1195G>T (p.Gly399Cys) n.2718G>T | gnomAD v3 gnomAD v4 |
5 | g.13886114C= | CA1528483842 | DNAH5 | c.2593G= (p.Gly865=) c.2548G= (p.Gly850=) n.2800G= c.2701G= (p.Gly901=) c.1606G= (p.Gly536=) c.1195G= (p.Gly399=) n.2718G= | |
5 | g.13886114C>G | CA359196868 | DNAH5 | c.2593G>C (p.Gly865Arg) c.2548G>C (p.Gly850Arg) n.2800G>C c.2701G>C (p.Gly901Arg) c.1606G>C (p.Gly536Arg) c.1195G>C (p.Gly399Arg) n.2718G>C | |
5 | g.13886114C>T | CA113933830 | DNAH5 | c.2593G>A (p.Gly865Ser) c.2548G>A (p.Gly850Ser) n.2800G>A c.2701G>A (p.Gly901Ser) c.1606G>A (p.Gly536Ser) c.1195G>A (p.Gly399Ser) n.2718G>A | dbSNP |
5 | g.13886115A>C | CA359196872 | DNAH5 | c.2592T>G (p.Asn864Lys) c.2547T>G (p.Asn849Lys) n.2799T>G c.2700T>G (p.Asn900Lys) c.1605T>G (p.Asn535Lys) c.1194T>G (p.Asn398Lys) n.2717T>G | |
5 | g.13886115A>G | CA443273746 | DNAH5 | c.2592T>C (p.Asn864=) c.2547T>C (p.Asn849=) n.2799T>C c.2700T>C (p.Asn900=) c.1605T>C (p.Asn535=) c.1194T>C (p.Asn398=) n.2717T>C | |
5 | g.13886115A>T | CA359196873 | DNAH5 | c.2592T>A (p.Asn864Lys) c.2547T>A (p.Asn849Lys) n.2799T>A c.2700T>A (p.Asn900Lys) c.1605T>A (p.Asn535Lys) c.1194T>A (p.Asn398Lys) n.2717T>A | gnomAD v3 gnomAD v4 |
5 | g.13886116T>A | CA359196879 | DNAH5 | c.2591A>T (p.Asn864Ile) c.2546A>T (p.Asn849Ile) n.2798A>T c.2699A>T (p.Asn900Ile) c.1604A>T (p.Asn535Ile) c.1193A>T (p.Asn398Ile) n.2716A>T | COSMIC |
5 | g.13886116T>C | CA359196877 | DNAH5 | c.2591A>G (p.Asn864Ser) c.2546A>G (p.Asn849Ser) n.2798A>G c.2699A>G (p.Asn900Ser) c.1604A>G (p.Asn535Ser) c.1193A>G (p.Asn398Ser) n.2716A>G | |
5 | g.13886116T>G | CA359196876 | DNAH5 | c.2591A>C (p.Asn864Thr) c.2546A>C (p.Asn849Thr) n.2798A>C c.2699A>C (p.Asn900Thr) c.1604A>C (p.Asn535Thr) c.1193A>C (p.Asn398Thr) n.2716A>C | |
5 | g.13886118del | CA2578270980 | DNAH5 | c.2591del (p.Asn864MetfsTer12) c.2546del (p.Asn849MetfsTer12) n.2798del c.2699del (p.Asn900MetfsTer12) c.1604del (p.Asn535MetfsTer12) c.1193del (p.Asn398MetfsTer12) n.2716del | gnomAD v4 |
5 | g.13886117T>A | CA359196883 | DNAH5 | c.2590A>T (p.Asn864Tyr) c.2545A>T (p.Asn849Tyr) n.2797A>T c.2698A>T (p.Asn900Tyr) c.1603A>T (p.Asn535Tyr) c.1192A>T (p.Asn398Tyr) n.2715A>T | |
5 | g.13886117T>C | CA359196887 | DNAH5 | c.2590A>G (p.Asn864Asp) c.2545A>G (p.Asn849Asp) n.2797A>G c.2698A>G (p.Asn900Asp) c.1603A>G (p.Asn535Asp) c.1192A>G (p.Asn398Asp) n.2715A>G | |
5 | g.13886117T>G | CA359196889 | DNAH5 | c.2590A>C (p.Asn864His) c.2545A>C (p.Asn849His) n.2797A>C c.2698A>C (p.Asn900His) c.1603A>C (p.Asn535His) c.1192A>C (p.Asn398His) n.2715A>C | |
5 | g.13886118T>A | CA443273747 | DNAH5 | c.2589A>T (p.Val863=) c.2544A>T (p.Val848=) n.2796A>T c.2697A>T (p.Val899=) c.1602A>T (p.Val534=) c.1191A>T (p.Val397=) n.2714A>T | gnomAD v3 gnomAD v4 |
5 | g.13886118T>C | CA443273748 | DNAH5 | c.2589A>G (p.Val863=) c.2544A>G (p.Val848=) n.2796A>G c.2697A>G (p.Val899=) c.1602A>G (p.Val534=) c.1191A>G (p.Val397=) n.2714A>G | |
5 | g.13886118T>G | CA443273749 | DNAH5 | c.2589A>C (p.Val863=) c.2544A>C (p.Val848=) n.2796A>C c.2697A>C (p.Val899=) c.1602A>C (p.Val534=) c.1191A>C (p.Val397=) n.2714A>C | |
5 | g.13886119A>C | CA359196892 | DNAH5 | c.2588T>G (p.Val863Gly) c.2543T>G (p.Val848Gly) n.2795T>G c.2696T>G (p.Val899Gly) c.1601T>G (p.Val534Gly) c.1190T>G (p.Val397Gly) n.2713T>G | gnomAD v3 gnomAD v4 |
5 | g.13886119A>G | CA359196893 | DNAH5 | c.2588T>C (p.Val863Ala) c.2543T>C (p.Val848Ala) n.2795T>C c.2696T>C (p.Val899Ala) c.1601T>C (p.Val534Ala) c.1190T>C (p.Val397Ala) n.2713T>C | gnomAD v4 COSMIC |
5 | g.13886119A>T | CA359196895 | DNAH5 | c.2588T>A (p.Val863Glu) c.2543T>A (p.Val848Glu) n.2795T>A c.2696T>A (p.Val899Glu) c.1601T>A (p.Val534Glu) c.1190T>A (p.Val397Glu) n.2713T>A | |
5 | g.13886119_13886120insAAAAAAA | CA2673277317 | DNAH5 | c.2588_2589insTTTTTTT (p.Asn864PhefsTer11) c.2543_2544insTTTTTTT (p.Asn849PhefsTer11) n.2795_2796insTTTTTTT c.2696_2697insTTTTTTT (p.Asn900PhefsTer11) c.1601_1602insTTTTTTT (p.Asn535PhefsTer11) c.1190_1191insTTTTTTT (p.Asn398PhefsTer11) n.2713_2714insTTTTTTT | gnomAD v4 |
5 | g.13886120C>A | CA359196896 | DNAH5 | c.2587G>T (p.Val863Leu) c.2542G>T (p.Val848Leu) n.2794G>T c.2695G>T (p.Val899Leu) c.1600G>T (p.Val534Leu) c.1189G>T (p.Val397Leu) n.2712G>T | gnomAD v3 gnomAD v4 |
5 | g.13886120C= | CA1528483843 | DNAH5 | c.2587G= (p.Val863=) c.2542G= (p.Val848=) n.2794G= c.2695G= (p.Val899=) c.1600G= (p.Val534=) c.1189G= (p.Val397=) n.2712G= | |
5 | g.13886120C>G | CA359196897 | DNAH5 | c.2587G>C (p.Val863Leu) c.2542G>C (p.Val848Leu) n.2794G>C c.2695G>C (p.Val899Leu) c.1600G>C (p.Val534Leu) c.1189G>C (p.Val397Leu) n.2712G>C | |
5 | g.13886120C>T | CA359196898 | DNAH5 | c.2587G>A (p.Val863Ile) c.2542G>A (p.Val848Ile) n.2794G>A c.2695G>A (p.Val899Ile) c.1600G>A (p.Val534Ile) c.1189G>A (p.Val397Ile) n.2712G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886121A>C | CA359196899 | DNAH5 | c.2586T>G (p.Cys862Trp) c.2541T>G (p.Cys847Trp) n.2793T>G c.2694T>G (p.Cys898Trp) c.1599T>G (p.Cys533Trp) c.1188T>G (p.Cys396Trp) n.2711T>G | |
5 | g.13886121A>G | CA443273750 | DNAH5 | c.2586T>C (p.Cys862=) c.2541T>C (p.Cys847=) n.2793T>C c.2694T>C (p.Cys898=) c.1599T>C (p.Cys533=) c.1188T>C (p.Cys396=) n.2711T>C | |
5 | g.13886121A>T | CA359196901 | DNAH5 | c.2586T>A (p.Cys862Ter) c.2541T>A (p.Cys847Ter) n.2793T>A c.2694T>A (p.Cys898Ter) c.1599T>A (p.Cys533Ter) c.1188T>A (p.Cys396Ter) n.2711T>A | |
5 | g.13886122del | CA2765351033 | DNAH5 | c.2585del (p.Cys862LeufsTer2) c.2540del (p.Cys847LeufsTer2) n.2792del c.2693del (p.Cys898LeufsTer2) c.1598del (p.Cys533LeufsTer2) c.1187del (p.Cys396LeufsTer2) n.2710del | |
5 | g.13886122C>A | CA359196911 | DNAH5 | c.2585G>T (p.Cys862Phe) c.2540G>T (p.Cys847Phe) n.2792G>T c.2693G>T (p.Cys898Phe) c.1598G>T (p.Cys533Phe) c.1187G>T (p.Cys396Phe) n.2710G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13886122C= | CA1528483844 | DNAH5 | c.2585G= (p.Cys862=) c.2540G= (p.Cys847=) n.2792G= c.2693G= (p.Cys898=) c.1598G= (p.Cys533=) c.1187G= (p.Cys396=) n.2710G= | |
5 | g.13886122C>G | CA359196912 | DNAH5 | c.2585G>C (p.Cys862Ser) c.2540G>C (p.Cys847Ser) n.2792G>C c.2693G>C (p.Cys898Ser) c.1598G>C (p.Cys533Ser) c.1187G>C (p.Cys396Ser) n.2710G>C | |
5 | g.13886122C>T | CA359196915 | DNAH5 | c.2585G>A (p.Cys862Tyr) c.2540G>A (p.Cys847Tyr) n.2792G>A c.2693G>A (p.Cys898Tyr) c.1598G>A (p.Cys533Tyr) c.1187G>A (p.Cys396Tyr) n.2710G>A | gnomAD v4 |
5 | g.13886123A>C | CA359196921 | DNAH5 | c.2584T>G (p.Cys862Gly) c.2539T>G (p.Cys847Gly) n.2791T>G c.2692T>G (p.Cys898Gly) c.1597T>G (p.Cys533Gly) c.1186T>G (p.Cys396Gly) n.2709T>G | |
5 | g.13886123A>G | CA359196925 | DNAH5 | c.2584T>C (p.Cys862Arg) c.2539T>C (p.Cys847Arg) n.2791T>C c.2692T>C (p.Cys898Arg) c.1597T>C (p.Cys533Arg) c.1186T>C (p.Cys396Arg) n.2709T>C | |
5 | g.13886123A>T | CA359196919 | DNAH5 | c.2584T>A (p.Cys862Ser) c.2539T>A (p.Cys847Ser) n.2791T>A c.2692T>A (p.Cys898Ser) c.1597T>A (p.Cys533Ser) c.1186T>A (p.Cys396Ser) n.2709T>A | |
5 | g.13886124A>C | CA443273751 | DNAH5 | c.2583T>G (p.Leu861=) c.2538T>G (p.Leu846=) n.2790T>G c.2691T>G (p.Leu897=) c.1596T>G (p.Leu532=) c.1185T>G (p.Leu395=) n.2708T>G | |
5 | g.13886124A>G | CA443273753 | DNAH5 | c.2583T>C (p.Leu861=) c.2538T>C (p.Leu846=) n.2790T>C c.2691T>C (p.Leu897=) c.1596T>C (p.Leu532=) c.1185T>C (p.Leu395=) n.2708T>C | |
5 | g.13886124A>T | CA443273752 | DNAH5 | c.2583T>A (p.Leu861=) c.2538T>A (p.Leu846=) n.2790T>A c.2691T>A (p.Leu897=) c.1596T>A (p.Leu532=) c.1185T>A (p.Leu395=) n.2708T>A | |
5 | g.13886125A>C | CA359196930 | DNAH5 | c.2582T>G (p.Leu861Arg) c.2537T>G (p.Leu846Arg) n.2789T>G c.2690T>G (p.Leu897Arg) c.1595T>G (p.Leu532Arg) c.1184T>G (p.Leu395Arg) n.2707T>G | |
5 | g.13886125A>G | CA359196934 | DNAH5 | c.2582T>C (p.Leu861Pro) c.2537T>C (p.Leu846Pro) n.2789T>C c.2690T>C (p.Leu897Pro) c.1595T>C (p.Leu532Pro) c.1184T>C (p.Leu395Pro) n.2707T>C | |
5 | g.13886125A>T | CA359196936 | DNAH5 | c.2582T>A (p.Leu861His) c.2537T>A (p.Leu846His) n.2789T>A c.2690T>A (p.Leu897His) c.1595T>A (p.Leu532His) c.1184T>A (p.Leu395His) n.2707T>A | |
5 | g.13886126del | CA2765351034 | DNAH5 | c.2581del (p.Leu861PhefsTer3) c.2536del (p.Leu846PhefsTer3) n.2788del c.2689del (p.Leu897PhefsTer3) c.1594del (p.Leu532PhefsTer3) c.1183del (p.Leu395PhefsTer3) n.2706del | |
5 | g.13886126G>A | CA3204530 | DNAH5 | c.2581C>T (p.Leu861Phe) c.2536C>T (p.Leu846Phe) n.2788C>T c.2689C>T (p.Leu897Phe) c.1594C>T (p.Leu532Phe) c.1183C>T (p.Leu395Phe) n.2706C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886126G>C | CA359196937 | DNAH5 | c.2581C>G (p.Leu861Val) c.2536C>G (p.Leu846Val) n.2788C>G c.2689C>G (p.Leu897Val) c.1594C>G (p.Leu532Val) c.1183C>G (p.Leu395Val) n.2706C>G | ClinVar dbSNP gnomAD v4 |
5 | g.13886126G= | CA1528483845 | DNAH5 | c.2581C= (p.Leu861=) c.2536C= (p.Leu846=) n.2788C= c.2689C= (p.Leu897=) c.1594C= (p.Leu532=) c.1183C= (p.Leu395=) n.2706C= | |
5 | g.13886126G>T | CA113933835 | DNAH5 | c.2581C>A (p.Leu861Ile) c.2536C>A (p.Leu846Ile) n.2788C>A c.2689C>A (p.Leu897Ile) c.1594C>A (p.Leu532Ile) c.1183C>A (p.Leu395Ile) n.2706C>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886126_13886131del | CA2673277318 | DNAH5 | c.2578-2_2581del c.2533-2_2536del n.2785-2_2788del c.2686-2_2689del c.1591-2_1594del c.1180-2_1183del n.2703-2_2706del | gnomAD v4 |
5 | g.13886127A>C | CA359196941 | DNAH5 | c.2580T>G (p.Asp860Glu) c.2535T>G (p.Asp845Glu) n.2787T>G c.2688T>G (p.Asp896Glu) c.1593T>G (p.Asp531Glu) c.1182T>G (p.Asp394Glu) n.2705T>G | |
5 | g.13886127A>G | CA443273754 | DNAH5 | c.2580T>C (p.Asp860=) c.2535T>C (p.Asp845=) n.2787T>C c.2688T>C (p.Asp896=) c.1593T>C (p.Asp531=) c.1182T>C (p.Asp394=) n.2705T>C | |
5 | g.13886127A>T | CA359196939 | DNAH5 | c.2580T>A (p.Asp860Glu) c.2535T>A (p.Asp845Glu) n.2787T>A c.2688T>A (p.Asp896Glu) c.1593T>A (p.Asp531Glu) c.1182T>A (p.Asp394Glu) n.2705T>A | gnomAD v4 |
5 | g.13886128T>A | CA359196944 | DNAH5 | c.2579A>T (p.Asp860Val) c.2534A>T (p.Asp845Val) n.2786A>T c.2687A>T (p.Asp896Val) c.1592A>T (p.Asp531Val) c.1181A>T (p.Asp394Val) n.2704A>T | dbSNP gnomAD v4 COSMIC |
5 | g.13886128T>C | CA359196945 | DNAH5 | c.2579A>G (p.Asp860Gly) c.2534A>G (p.Asp845Gly) n.2786A>G c.2687A>G (p.Asp896Gly) c.1592A>G (p.Asp531Gly) c.1181A>G (p.Asp394Gly) n.2704A>G | gnomAD v3 gnomAD v4 |
5 | g.13886128T>G | CA359196947 | DNAH5 | c.2579A>C (p.Asp860Ala) c.2534A>C (p.Asp845Ala) n.2786A>C c.2687A>C (p.Asp896Ala) c.1592A>C (p.Asp531Ala) c.1181A>C (p.Asp394Ala) n.2704A>C | |
5 | g.13886128_13886131del | CA1073400353 | DNAH5 | c.2578-2_2579del c.2533-2_2534del n.2785-2_2786del c.2686-2_2687del c.1591-2_1592del c.1180-2_1181del n.2703-2_2704del | gnomAD v3 gnomAD v4 |
5 | g.13886129_13886131del | CA1073400351 | DNAH5 | c.2578-1_2579del c.2533-1_2534del n.2785-1_2786del c.2686-1_2687del c.1591-1_1592del c.1180-1_1181del n.2703-1_2704del | gnomAD v4 |
5 | g.13886129C>A | CA359196949 | DNAH5 | c.2578G>T (p.Asp860Tyr) c.2533G>T (p.Asp845Tyr) n.2785G>T c.2686G>T (p.Asp896Tyr) c.1591G>T (p.Asp531Tyr) c.1180G>T (p.Asp394Tyr) n.2703G>T | dbSNP gnomAD v4 |
5 | g.13886129C= | CA1528483846 | DNAH5 | c.2578G= (p.Asp860=) c.2533G= (p.Asp845=) n.2785G= c.2686G= (p.Asp896=) c.1591G= (p.Asp531=) c.1180G= (p.Asp394=) n.2703G= | |
5 | g.13886129C>G | CA359196951 | DNAH5 | c.2578G>C (p.Asp860His) c.2533G>C (p.Asp845His) n.2785G>C c.2686G>C (p.Asp896His) c.1591G>C (p.Asp531His) c.1180G>C (p.Asp394His) n.2703G>C | gnomAD v4 |
5 | g.13886129C>T | CA359196955 | DNAH5 | c.2578G>A (p.Asp860Asn) c.2533G>A (p.Asp845Asn) n.2785G>A c.2686G>A (p.Asp896Asn) c.1591G>A (p.Asp531Asn) c.1180G>A (p.Asp394Asn) n.2703G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886129_13886130del | CA2765351035 | DNAH5 | c.2578-1_2578del c.2533-1_2533del n.2785-1_2785del c.2686-1_2686del c.1591-1_1591del c.1180-1_1180del n.2703-1_2703del | |
5 | g.13886130del | CA2673277319 | DNAH5 | c.2578del c.2533del n.2785del c.2686del c.1591del c.1180del n.2703del | ClinVar gnomAD v4 |
5 | g.13886130C>A | CA359196958 | DNAH5 | c.2578-1G>T (n.2578-1G>T) c.2533-1G>T (n.2533-1G>T) n.2785-1G>T c.2686-1G>T (n.2686-1G>T) c.1591-1G>T (n.1591-1G>T) c.1180-1G>T (n.1180-1G>T) n.2703-1G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886130C= | CA1528483847 | DNAH5 | c.2578-1G= (n.2578-1G=) c.2533-1G= (n.2533-1G=) n.2785-1G= c.2686-1G= (n.2686-1G=) c.1591-1G= (n.1591-1G=) c.1180-1G= (n.1180-1G=) n.2703-1G= | |
5 | g.13886130C>G | CA359196966 | DNAH5 | c.2578-1G>C (n.2578-1G>C) c.2533-1G>C (n.2533-1G>C) n.2785-1G>C c.2686-1G>C (n.2686-1G>C) c.1591-1G>C (n.1591-1G>C) c.1180-1G>C (n.1180-1G>C) n.2703-1G>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886130C>T | CA359196963 | DNAH5 | c.2578-1G>A (n.2578-1G>A) c.2533-1G>A (n.2533-1G>A) n.2785-1G>A c.2686-1G>A (n.2686-1G>A) c.1591-1G>A (n.1591-1G>A) c.1180-1G>A (n.1180-1G>A) n.2703-1G>A | ClinVar dbSNP gnomAD v4 |
5 | g.13886130_13886131del | CA2673277320 | DNAH5 | c.2578-2_2578-1del (n.2578-2_2578-1del) c.2533-2_2533-1del (n.2533-2_2533-1del) n.2785-2_2785-1del c.2686-2_2686-1del (n.2686-2_2686-1del) c.1591-2_1591-1del (n.1591-2_1591-1del) c.1180-2_1180-1del (n.1180-2_1180-1del) n.2703-2_2703-1del | gnomAD v4 |
5 | g.13886131del | CA1073400364 | DNAH5 | c.2578-2del (n.2578-2del) c.2533-2del (n.2533-2del) n.2785-2del c.2686-2del (n.2686-2del) c.1591-2del (n.1591-2del) c.1180-2del (n.1180-2del) n.2703-2del | gnomAD v3 gnomAD v4 |
5 | g.13886131T>A | CA359196968 | DNAH5 | c.2578-2A>T (n.2578-2A>T) c.2533-2A>T (n.2533-2A>T) n.2785-2A>T c.2686-2A>T (n.2686-2A>T) c.1591-2A>T (n.1591-2A>T) c.1180-2A>T (n.1180-2A>T) n.2703-2A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886131T>C | CA359196970 | DNAH5 | c.2578-2A>G (n.2578-2A>G) c.2533-2A>G (n.2533-2A>G) n.2785-2A>G c.2686-2A>G (n.2686-2A>G) c.1591-2A>G (n.1591-2A>G) c.1180-2A>G (n.1180-2A>G) n.2703-2A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886131T>G | CA359196971 | DNAH5 | c.2578-2A>C (n.2578-2A>C) c.2533-2A>C (n.2533-2A>C) n.2785-2A>C c.2686-2A>C (n.2686-2A>C) c.1591-2A>C (n.1591-2A>C) c.1180-2A>C (n.1180-2A>C) n.2703-2A>C | gnomAD v4 |
5 | g.13886131T= | CA1528483848 | DNAH5 | c.2578-2A= (n.2578-2A=) c.2533-2A= (n.2533-2A=) n.2785-2A= c.2686-2A= (n.2686-2A=) c.1591-2A= (n.1591-2A=) c.1180-2A= (n.1180-2A=) n.2703-2A= | |
5 | g.13886132A>G | CA2673277322 | DNAH5 | c.2578-3T>C (n.2578-3T>C) c.2533-3T>C (n.2533-3T>C) n.2785-3T>C c.2686-3T>C (n.2686-3T>C) c.1591-3T>C (n.1591-3T>C) c.1180-3T>C (n.1180-3T>C) n.2703-3T>C | gnomAD v4 |
5 | g.13886133del | CA2673277323 | DNAH5 | c.2578-3del (n.2578-3del) c.2533-3del (n.2533-3del) n.2785-3del c.2686-3del (n.2686-3del) c.1591-3del (n.1591-3del) c.1180-3del (n.1180-3del) n.2703-3del | gnomAD v4 |
5 | g.13886132_13886135delinsAACC | CA1528483849 | DNAH5 | c.2578-6_2578-3delinsGGTT (n.2578-6_2578-3delinsGGTT) c.2533-6_2533-3delinsGGTT (n.2533-6_2533-3delinsGGTT) n.2785-6_2785-3delinsGGTT c.2686-6_2686-3delinsGGTT (n.2686-6_2686-3delinsGGTT) c.1591-6_1591-3delinsGGTT (n.1591-6_1591-3delinsGGTT) c.1180-6_1180-3delinsGGTT (n.1180-6_1180-3delinsGGTT) n.2703-6_2703-3delinsGGTT | |
5 | g.13886134_13886137del | CA2673277321 | DNAH5 | c.2578-6_2578-3del (n.2578-6_2578-3del) c.2533-6_2533-3del (n.2533-6_2533-3del) n.2785-6_2785-3del c.2686-6_2686-3del (n.2686-6_2686-3del) c.1591-6_1591-3del (n.1591-6_1591-3del) c.1180-6_1180-3del (n.1180-6_1180-3del) n.2703-6_2703-3del | gnomAD v4 |
5 | g.13886134_13886138del | CA2838412011 | DNAH5 | c.2578-7_2578-3del (n.2578-7_2578-3del) c.2533-7_2533-3del (n.2533-7_2533-3del) n.2785-7_2785-3del c.2686-7_2686-3del (n.2686-7_2686-3del) c.1591-7_1591-3del (n.1591-7_1591-3del) c.1180-7_1180-3del (n.1180-7_1180-3del) n.2703-7_2703-3del | |
5 | g.13886133A= | CA1528483851 | DNAH5 | c.2578-4T= (n.2578-4T=) c.2533-4T= (n.2533-4T=) n.2785-4T= c.2686-4T= (n.2686-4T=) c.1591-4T= (n.1591-4T=) c.1180-4T= (n.1180-4T=) n.2703-4T= | |
5 | g.13886133A>C | CA1073400371 | DNAH5 | c.2578-4T>G (n.2578-4T>G) c.2533-4T>G (n.2533-4T>G) n.2785-4T>G c.2686-4T>G (n.2686-4T>G) c.1591-4T>G (n.1591-4T>G) c.1180-4T>G (n.1180-4T>G) n.2703-4T>G | gnomAD v3 gnomAD v4 |
5 | g.13886133A>G | CA557877048 | DNAH5 | c.2578-4T>C (n.2578-4T>C) c.2533-4T>C (n.2533-4T>C) n.2785-4T>C c.2686-4T>C (n.2686-4T>C) c.1591-4T>C (n.1591-4T>C) c.1180-4T>C (n.1180-4T>C) n.2703-4T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886133_13886134delinsAC | CA1528483852 | DNAH5 | c.2578-5_2578-4delinsGT (n.2578-5_2578-4delinsGT) c.2533-5_2533-4delinsGT (n.2533-5_2533-4delinsGT) n.2785-5_2785-4delinsGT c.2686-5_2686-4delinsGT (n.2686-5_2686-4delinsGT) c.1591-5_1591-4delinsGT (n.1591-5_1591-4delinsGT) c.1180-5_1180-4delinsGT (n.1180-5_1180-4delinsGT) n.2703-5_2703-4delinsGT | |
5 | g.13886133_13886135delinsACC | CA1528483850 | DNAH5 | c.2578-6_2578-4delinsGGT (n.2578-6_2578-4delinsGGT) c.2533-6_2533-4delinsGGT (n.2533-6_2533-4delinsGGT) n.2785-6_2785-4delinsGGT c.2686-6_2686-4delinsGGT (n.2686-6_2686-4delinsGGT) c.1591-6_1591-4delinsGGT (n.1591-6_1591-4delinsGGT) c.1180-6_1180-4delinsGGT (n.1180-6_1180-4delinsGGT) n.2703-6_2703-4delinsGGT | |
5 | g.13886134_13886136del | CA557877047 | DNAH5 | c.2578-6_2578-4del (n.2578-6_2578-4del) c.2533-6_2533-4del (n.2533-6_2533-4del) n.2785-6_2785-4del c.2686-6_2686-4del (n.2686-6_2686-4del) c.1591-6_1591-4del (n.1591-6_1591-4del) c.1180-6_1180-4del (n.1180-6_1180-4del) n.2703-6_2703-4del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886134C>A | CA113933851 | DNAH5 | c.2578-5G>T (n.2578-5G>T) c.2533-5G>T (n.2533-5G>T) n.2785-5G>T c.2686-5G>T (n.2686-5G>T) c.1591-5G>T (n.1591-5G>T) c.1180-5G>T (n.1180-5G>T) n.2703-5G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886134C= | CA1528483853 | DNAH5 | c.2578-5G= (n.2578-5G=) c.2533-5G= (n.2533-5G=) n.2785-5G= c.2686-5G= (n.2686-5G=) c.1591-5G= (n.1591-5G=) c.1180-5G= (n.1180-5G=) n.2703-5G= | |
5 | g.13886134C>G | CA1528483858 | DNAH5 | c.2578-5G>C (n.2578-5G>C) c.2533-5G>C (n.2533-5G>C) n.2785-5G>C c.2686-5G>C (n.2686-5G>C) c.1591-5G>C (n.1591-5G>C) c.1180-5G>C (n.1180-5G>C) n.2703-5G>C | ClinVar dbSNP |
5 | g.13886134_13886135del | CA557877049 | DNAH5 | c.2578-6_2578-5del (n.2578-6_2578-5del) c.2533-6_2533-5del (n.2533-6_2533-5del) n.2785-6_2785-5del c.2686-6_2686-5del (n.2686-6_2686-5del) c.1591-6_1591-5del (n.1591-6_1591-5del) c.1180-6_1180-5del (n.1180-6_1180-5del) n.2703-6_2703-5del | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886135dup | CA3204531 | DNAH5 | c.2578-5dup (n.2578-5dup) c.2533-5dup (n.2533-5dup) n.2785-5dup c.2686-5dup (n.2686-5dup) c.1591-5dup (n.1591-5dup) c.1180-5dup (n.1180-5dup) n.2703-5dup | dbSNP ExAC |
5 | g.13886135del | CA10622767 | DNAH5 | c.2578-5del (n.2578-5del) c.2533-5del (n.2533-5del) n.2785-5del c.2686-5del (n.2686-5del) c.1591-5del (n.1591-5del) c.1180-5del (n.1180-5del) n.2703-5del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886134_13886136delinsCCA | CA1528483856 | DNAH5 | c.2578-7_2578-5delinsTGG (n.2578-7_2578-5delinsTGG) c.2533-7_2533-5delinsTGG (n.2533-7_2533-5delinsTGG) n.2785-7_2785-5delinsTGG c.2686-7_2686-5delinsTGG (n.2686-7_2686-5delinsTGG) c.1591-7_1591-5delinsTGG (n.1591-7_1591-5delinsTGG) c.1180-7_1180-5delinsTGG (n.1180-7_1180-5delinsTGG) n.2703-7_2703-5delinsTGG | |
5 | g.13886134_13886137delinsCCAA | CA1528483857 | DNAH5 | c.2578-8_2578-5delinsTTGG (n.2578-8_2578-5delinsTTGG) c.2533-8_2533-5delinsTTGG (n.2533-8_2533-5delinsTTGG) n.2785-8_2785-5delinsTTGG c.2686-8_2686-5delinsTTGG (n.2686-8_2686-5delinsTTGG) c.1591-8_1591-5delinsTTGG (n.1591-8_1591-5delinsTTGG) c.1180-8_1180-5delinsTTGG (n.1180-8_1180-5delinsTTGG) n.2703-8_2703-5delinsTTGG | |
5 | g.13886134_13886138delinsCCAAA | CA1528483855 | DNAH5 | c.2578-9_2578-5delinsTTTGG (n.2578-9_2578-5delinsTTTGG) c.2533-9_2533-5delinsTTTGG (n.2533-9_2533-5delinsTTTGG) n.2785-9_2785-5delinsTTTGG c.2686-9_2686-5delinsTTTGG (n.2686-9_2686-5delinsTTTGG) c.1591-9_1591-5delinsTTTGG (n.1591-9_1591-5delinsTTTGG) c.1180-9_1180-5delinsTTTGG (n.1180-9_1180-5delinsTTTGG) n.2703-9_2703-5delinsTTTGG | |
5 | g.13886134_13886139delinsCCAAAA | CA1528483854 | DNAH5 | c.2578-10_2578-5delinsTTTTGG (n.2578-10_2578-5delinsTTTTGG) c.2533-10_2533-5delinsTTTTGG (n.2533-10_2533-5delinsTTTTGG) n.2785-10_2785-5delinsTTTTGG c.2686-10_2686-5delinsTTTTGG (n.2686-10_2686-5delinsTTTTGG) c.1591-10_1591-5delinsTTTTGG (n.1591-10_1591-5delinsTTTTGG) c.1180-10_1180-5delinsTTTTGG (n.1180-10_1180-5delinsTTTTGG) n.2703-10_2703-5delinsTTTTGG | |
5 | g.13886134_13886135insA | CA1073400397 | DNAH5 | c.2578-6_2578-5insT (n.2578-6_2578-5insT) c.2533-6_2533-5insT (n.2533-6_2533-5insT) n.2785-6_2785-5insT c.2686-6_2686-5insT (n.2686-6_2686-5insT) c.1591-6_1591-5insT (n.1591-6_1591-5insT) c.1180-6_1180-5insT (n.1180-6_1180-5insT) n.2703-6_2703-5insT | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886134_13886135insAA | CA2673277328 | DNAH5 | c.2578-6_2578-5insTT (n.2578-6_2578-5insTT) c.2533-6_2533-5insTT (n.2533-6_2533-5insTT) n.2785-6_2785-5insTT c.2686-6_2686-5insTT (n.2686-6_2686-5insTT) c.1591-6_1591-5insTT (n.1591-6_1591-5insTT) c.1180-6_1180-5insTT (n.1180-6_1180-5insTT) n.2703-6_2703-5insTT | gnomAD v4 |
5 | g.13886134_13886135insAAA | CA2673277324 | DNAH5 | c.2578-6_2578-5insTTT (n.2578-6_2578-5insTTT) c.2533-6_2533-5insTTT (n.2533-6_2533-5insTTT) n.2785-6_2785-5insTTT c.2686-6_2686-5insTTT (n.2686-6_2686-5insTTT) c.1591-6_1591-5insTTT (n.1591-6_1591-5insTTT) c.1180-6_1180-5insTTT (n.1180-6_1180-5insTTT) n.2703-6_2703-5insTTT | gnomAD v4 |
5 | g.13886134_13886135insAAAA | CA2673277327 | DNAH5 | c.2578-6_2578-5insTTTT (n.2578-6_2578-5insTTTT) c.2533-6_2533-5insTTTT (n.2533-6_2533-5insTTTT) n.2785-6_2785-5insTTTT c.2686-6_2686-5insTTTT (n.2686-6_2686-5insTTTT) c.1591-6_1591-5insTTTT (n.1591-6_1591-5insTTTT) c.1180-6_1180-5insTTTT (n.1180-6_1180-5insTTTT) n.2703-6_2703-5insTTTT | gnomAD v4 |
5 | g.13886134_13886135insAAAAA | CA2765351036 | DNAH5 | c.2578-6_2578-5insTTTTT (n.2578-6_2578-5insTTTTT) c.2533-6_2533-5insTTTTT (n.2533-6_2533-5insTTTTT) n.2785-6_2785-5insTTTTT c.2686-6_2686-5insTTTTT (n.2686-6_2686-5insTTTTT) c.1591-6_1591-5insTTTTT (n.1591-6_1591-5insTTTTT) c.1180-6_1180-5insTTTTT (n.1180-6_1180-5insTTTTT) n.2703-6_2703-5insTTTTT | |
5 | g.13886134_13886135insAAAAAA | CA2765351037 | DNAH5 | c.2578-6_2578-5insTTTTTT (n.2578-6_2578-5insTTTTTT) c.2533-6_2533-5insTTTTTT (n.2533-6_2533-5insTTTTTT) n.2785-6_2785-5insTTTTTT c.2686-6_2686-5insTTTTTT (n.2686-6_2686-5insTTTTTT) c.1591-6_1591-5insTTTTTT (n.1591-6_1591-5insTTTTTT) c.1180-6_1180-5insTTTTTT (n.1180-6_1180-5insTTTTTT) n.2703-6_2703-5insTTTTTT | |
5 | g.13886134_13886135insAAAAAAAA | CA2673277326 | DNAH5 | c.2578-6_2578-5insTTTTTTTT (n.2578-6_2578-5insTTTTTTTT) c.2533-6_2533-5insTTTTTTTT (n.2533-6_2533-5insTTTTTTTT) n.2785-6_2785-5insTTTTTTTT c.2686-6_2686-5insTTTTTTTT (n.2686-6_2686-5insTTTTTTTT) c.1591-6_1591-5insTTTTTTTT (n.1591-6_1591-5insTTTTTTTT) c.1180-6_1180-5insTTTTTTTT (n.1180-6_1180-5insTTTTTTTT) n.2703-6_2703-5insTTTTTTTT | gnomAD v4 |
5 | g.13886135C>A | CA658657429 | DNAH5 | c.2578-6G>T (n.2578-6G>T) c.2533-6G>T (n.2533-6G>T) n.2785-6G>T c.2686-6G>T (n.2686-6G>T) c.1591-6G>T (n.1591-6G>T) c.1180-6G>T (n.1180-6G>T) n.2703-6G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886135C= | CA1528483859 | DNAH5 | c.2578-6G= (n.2578-6G=) c.2533-6G= (n.2533-6G=) n.2785-6G= c.2686-6G= (n.2686-6G=) c.1591-6G= (n.1591-6G=) c.1180-6G= (n.1180-6G=) n.2703-6G= | |
5 | g.13886135_13886136del | CA10620261 | DNAH5 | c.2578-7_2578-6del (n.2578-7_2578-6del) c.2533-7_2533-6del (n.2533-7_2533-6del) n.2785-7_2785-6del c.2686-7_2686-6del (n.2686-7_2686-6del) c.1591-7_1591-6del (n.1591-7_1591-6del) c.1180-7_1180-6del (n.1180-7_1180-6del) n.2703-7_2703-6del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886135_13886136delinsCA | CA2497029630 | DNAH5 | c.2578-7_2578-6delinsTG (n.2578-7_2578-6delinsTG) c.2533-7_2533-6delinsTG (n.2533-7_2533-6delinsTG) n.2785-7_2785-6delinsTG c.2686-7_2686-6delinsTG (n.2686-7_2686-6delinsTG) c.1591-7_1591-6delinsTG (n.1591-7_1591-6delinsTG) c.1180-7_1180-6delinsTG (n.1180-7_1180-6delinsTG) n.2703-7_2703-6delinsTG | |
5 | g.13886135_13886137del | CA10622768 | DNAH5 | c.2578-8_2578-6del (n.2578-8_2578-6del) c.2533-8_2533-6del (n.2533-8_2533-6del) n.2785-8_2785-6del c.2686-8_2686-6del (n.2686-8_2686-6del) c.1591-8_1591-6del (n.1591-8_1591-6del) c.1180-8_1180-6del (n.1180-8_1180-6del) n.2703-8_2703-6del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886135_13886137delinsCAA | CA2497029631 | DNAH5 | c.2578-8_2578-6delinsTTG (n.2578-8_2578-6delinsTTG) c.2533-8_2533-6delinsTTG (n.2533-8_2533-6delinsTTG) n.2785-8_2785-6delinsTTG c.2686-8_2686-6delinsTTG (n.2686-8_2686-6delinsTTG) c.1591-8_1591-6delinsTTG (n.1591-8_1591-6delinsTTG) c.1180-8_1180-6delinsTTG (n.1180-8_1180-6delinsTTG) n.2703-8_2703-6delinsTTG | |
5 | g.13886135_13886138del | CA917418475 | DNAH5 | c.2578-9_2578-6del (n.2578-9_2578-6del) c.2533-9_2533-6del (n.2533-9_2533-6del) n.2785-9_2785-6del c.2686-9_2686-6del (n.2686-9_2686-6del) c.1591-9_1591-6del (n.1591-9_1591-6del) c.1180-9_1180-6del (n.1180-9_1180-6del) n.2703-9_2703-6del | dbSNP gnomAD v4 |
5 | g.13886135_13886138delinsCAAA | CA2497029125 | DNAH5 | c.2578-9_2578-6delinsTTTG (n.2578-9_2578-6delinsTTTG) c.2533-9_2533-6delinsTTTG (n.2533-9_2533-6delinsTTTG) n.2785-9_2785-6delinsTTTG c.2686-9_2686-6delinsTTTG (n.2686-9_2686-6delinsTTTG) c.1591-9_1591-6delinsTTTG (n.1591-9_1591-6delinsTTTG) c.1180-9_1180-6delinsTTTG (n.1180-9_1180-6delinsTTTG) n.2703-9_2703-6delinsTTTG | |
5 | g.13886135_13886139del | CA917418474 | DNAH5 | c.2578-10_2578-6del (n.2578-10_2578-6del) c.2533-10_2533-6del (n.2533-10_2533-6del) n.2785-10_2785-6del c.2686-10_2686-6del (n.2686-10_2686-6del) c.1591-10_1591-6del (n.1591-10_1591-6del) c.1180-10_1180-6del (n.1180-10_1180-6del) n.2703-10_2703-6del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886135_13886140del | CA2673277325 | DNAH5 | c.2578-11_2578-6del (n.2578-11_2578-6del) c.2533-11_2533-6del (n.2533-11_2533-6del) n.2785-11_2785-6del c.2686-11_2686-6del (n.2686-11_2686-6del) c.1591-11_1591-6del (n.1591-11_1591-6del) c.1180-11_1180-6del (n.1180-11_1180-6del) n.2703-11_2703-6del | gnomAD v4 |
5 | g.13886135_13886145delinsCAAAAAAAAAA | CA1528483860 | DNAH5 | c.2578-16_2578-6delinsTTTTTTTTTTG (n.2578-16_2578-6delinsTTTTTTTTTTG) c.2533-16_2533-6delinsTTTTTTTTTTG (n.2533-16_2533-6delinsTTTTTTTTTTG) n.2785-16_2785-6delinsTTTTTTTTTTG c.2686-16_2686-6delinsTTTTTTTTTTG (n.2686-16_2686-6delinsTTTTTTTTTTG) c.1591-16_1591-6delinsTTTTTTTTTTG (n.1591-16_1591-6delinsTTTTTTTTTTG) c.1180-16_1180-6delinsTTTTTTTTTTG (n.1180-16_1180-6delinsTTTTTTTTTTG) n.2703-16_2703-6delinsTTTTTTTTTTG | |
5 | g.13886135_13886136insCA | CA917418480 | DNAH5 | c.2578-7_2578-6insTG (n.2578-7_2578-6insTG) c.2533-7_2533-6insTG (n.2533-7_2533-6insTG) n.2785-7_2785-6insTG c.2686-7_2686-6insTG (n.2686-7_2686-6insTG) c.1591-7_1591-6insTG (n.1591-7_1591-6insTG) c.1180-7_1180-6insTG (n.1180-7_1180-6insTG) n.2703-7_2703-6insTG | dbSNP |
5 | g.13886136A= | CA1528483861 | DNAH5 | c.2578-7T= (n.2578-7T=) c.2533-7T= (n.2533-7T=) n.2785-7T= c.2686-7T= (n.2686-7T=) c.1591-7T= (n.1591-7T=) c.1180-7T= (n.1180-7T=) n.2703-7T= | |
5 | g.13886136A>C | CA113933880 | DNAH5 | c.2578-7T>G (n.2578-7T>G) c.2533-7T>G (n.2533-7T>G) n.2785-7T>G c.2686-7T>G (n.2686-7T>G) c.1591-7T>G (n.1591-7T>G) c.1180-7T>G (n.1180-7T>G) n.2703-7T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886143_13886144insCAAAAAAAAAAA | CA2673277331 | DNAH5 | c.2578-7_2578-6insTTTGTTTTTTTT (n.2578-7_2578-6insTTTGTTTTTTTT) c.2533-7_2533-6insTTTGTTTTTTTT (n.2533-7_2533-6insTTTGTTTTTTTT) n.2785-7_2785-6insTTTGTTTTTTTT c.2686-7_2686-6insTTTGTTTTTTTT (n.2686-7_2686-6insTTTGTTTTTTTT) c.1591-7_1591-6insTTTGTTTTTTTT (n.1591-7_1591-6insTTTGTTTTTTTT) c.1180-7_1180-6insTTTGTTTTTTTT (n.1180-7_1180-6insTTTGTTTTTTTT) n.2703-7_2703-6insTTTGTTTTTTTT | gnomAD v4 |
5 | g.13886154_13886155insAAAAAAAAAAAAAAAAAAAAA | CA2765351038 | DNAH5 | c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTT) c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTT) n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTTTT c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTT) c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTT) c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTT) n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTTTT | |
5 | g.13886154_13886155insAAAAAAAAAAAAAAAAAAAAAA | CA2673277333 | DNAH5 | c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTT) c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTT) n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTTTTT c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTT) c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTT) c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTT) n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
5 | g.13886154_13886155insAAAAAAAAAAAAAAAAAAAAAAA | CA2673277329 | DNAH5 | c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTT) c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTT) n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTTTTTT c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTT) c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTT) c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTT) n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
5 | g.13886154_13886155insAAAAAAAAAAAAAAAAAAAAAAAA | CA1073400468 | DNAH5 | c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTTT) c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTTT) n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTTTTTTT c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTTT) c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTTT) c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTTT) n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
5 | g.13886154_13886155insAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2673277330 | DNAH5 | c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
5 | g.13886154_13886155insAAAAAAAAAAAAACAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1073400452 | DNAH5 | c.2578-7_2578-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2578-7_2578-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2533-7_2533-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2533-7_2533-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2785-7_2785-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.2686-7_2686-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2686-7_2686-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1591-7_1591-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1591-7_1591-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1180-7_1180-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1180-7_1180-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2703-7_2703-6insTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
5 | g.13886154dup | CA3204537 | DNAH5 | c.2578-7dup (n.2578-7dup) c.2533-7dup (n.2533-7dup) n.2785-7dup c.2686-7dup (n.2686-7dup) c.1591-7dup (n.1591-7dup) c.1180-7dup (n.1180-7dup) n.2703-7dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886153_13886154dup | CA804560605 | DNAH5 | c.2578-8_2578-7dup (n.2578-8_2578-7dup) c.2533-8_2533-7dup (n.2533-8_2533-7dup) n.2785-8_2785-7dup c.2686-8_2686-7dup (n.2686-8_2686-7dup) c.1591-8_1591-7dup (n.1591-8_1591-7dup) c.1180-8_1180-7dup (n.1180-8_1180-7dup) n.2703-8_2703-7dup | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886152_13886154dup | CA1073400437 | DNAH5 | c.2578-9_2578-7dup (n.2578-9_2578-7dup) c.2533-9_2533-7dup (n.2533-9_2533-7dup) n.2785-9_2785-7dup c.2686-9_2686-7dup (n.2686-9_2686-7dup) c.1591-9_1591-7dup (n.1591-9_1591-7dup) c.1180-9_1180-7dup (n.1180-9_1180-7dup) n.2703-9_2703-7dup | gnomAD v3 gnomAD v4 |
5 | g.13886151_13886154dup | CA917418485 | DNAH5 | c.2578-10_2578-7dup (n.2578-10_2578-7dup) c.2533-10_2533-7dup (n.2533-10_2533-7dup) n.2785-10_2785-7dup c.2686-10_2686-7dup (n.2686-10_2686-7dup) c.1591-10_1591-7dup (n.1591-10_1591-7dup) c.1180-10_1180-7dup (n.1180-10_1180-7dup) n.2703-10_2703-7dup | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886150_13886154dup | CA1073400461 | DNAH5 | c.2578-11_2578-7dup (n.2578-11_2578-7dup) c.2533-11_2533-7dup (n.2533-11_2533-7dup) n.2785-11_2785-7dup c.2686-11_2686-7dup (n.2686-11_2686-7dup) c.1591-11_1591-7dup (n.1591-11_1591-7dup) c.1180-11_1180-7dup (n.1180-11_1180-7dup) n.2703-11_2703-7dup | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886149_13886154dup | CA1073400459 | DNAH5 | c.2578-12_2578-7dup (n.2578-12_2578-7dup) c.2533-12_2533-7dup (n.2533-12_2533-7dup) n.2785-12_2785-7dup c.2686-12_2686-7dup (n.2686-12_2686-7dup) c.1591-12_1591-7dup (n.1591-12_1591-7dup) c.1180-12_1180-7dup (n.1180-12_1180-7dup) n.2703-12_2703-7dup | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886148_13886154dup | CA915943315 | DNAH5 | c.2578-13_2578-7dup (n.2578-13_2578-7dup) c.2533-13_2533-7dup (n.2533-13_2533-7dup) n.2785-13_2785-7dup c.2686-13_2686-7dup (n.2686-13_2686-7dup) c.1591-13_1591-7dup (n.1591-13_1591-7dup) c.1180-13_1180-7dup (n.1180-13_1180-7dup) n.2703-13_2703-7dup | ClinVar dbSNP gnomAD v4 |
5 | g.13886147_13886154dup | CA2673277338 | DNAH5 | c.2578-14_2578-7dup (n.2578-14_2578-7dup) c.2533-14_2533-7dup (n.2533-14_2533-7dup) n.2785-14_2785-7dup c.2686-14_2686-7dup (n.2686-14_2686-7dup) c.1591-14_1591-7dup (n.1591-14_1591-7dup) c.1180-14_1180-7dup (n.1180-14_1180-7dup) n.2703-14_2703-7dup | gnomAD v4 |
5 | g.13886146_13886154dup | CA915943314 | DNAH5 | c.2578-15_2578-7dup (n.2578-15_2578-7dup) c.2533-15_2533-7dup (n.2533-15_2533-7dup) n.2785-15_2785-7dup c.2686-15_2686-7dup (n.2686-15_2686-7dup) c.1591-15_1591-7dup (n.1591-15_1591-7dup) c.1180-15_1180-7dup (n.1180-15_1180-7dup) n.2703-15_2703-7dup | ClinVar dbSNP gnomAD v4 |
5 | g.13886145_13886154dup | CA2673277334 | DNAH5 | c.2578-16_2578-7dup (n.2578-16_2578-7dup) c.2533-16_2533-7dup (n.2533-16_2533-7dup) n.2785-16_2785-7dup c.2686-16_2686-7dup (n.2686-16_2686-7dup) c.1591-16_1591-7dup (n.1591-16_1591-7dup) c.1180-16_1180-7dup (n.1180-16_1180-7dup) n.2703-16_2703-7dup | gnomAD v4 |
5 | g.13886144_13886154dup | CA2673277335 | DNAH5 | c.2578-17_2578-7dup (n.2578-17_2578-7dup) c.2533-17_2533-7dup (n.2533-17_2533-7dup) n.2785-17_2785-7dup c.2686-17_2686-7dup (n.2686-17_2686-7dup) c.1591-17_1591-7dup (n.1591-17_1591-7dup) c.1180-17_1180-7dup (n.1180-17_1180-7dup) n.2703-17_2703-7dup | gnomAD v4 |
5 | g.13886143_13886154dup | CA2673277336 | DNAH5 | c.2578-18_2578-7dup (n.2578-18_2578-7dup) c.2533-18_2533-7dup (n.2533-18_2533-7dup) n.2785-18_2785-7dup c.2686-18_2686-7dup (n.2686-18_2686-7dup) c.1591-18_1591-7dup (n.1591-18_1591-7dup) c.1180-18_1180-7dup (n.1180-18_1180-7dup) n.2703-18_2703-7dup | gnomAD v4 |
5 | g.13886142_13886154dup | CA915943313 | DNAH5 | c.2578-19_2578-7dup (n.2578-19_2578-7dup) c.2533-19_2533-7dup (n.2533-19_2533-7dup) n.2785-19_2785-7dup c.2686-19_2686-7dup (n.2686-19_2686-7dup) c.1591-19_1591-7dup (n.1591-19_1591-7dup) c.1180-19_1180-7dup (n.1180-19_1180-7dup) n.2703-19_2703-7dup | ClinVar dbSNP gnomAD v4 |
5 | g.13886141_13886154dup | CA2673277337 | DNAH5 | c.2578-20_2578-7dup (n.2578-20_2578-7dup) c.2533-20_2533-7dup (n.2533-20_2533-7dup) n.2785-20_2785-7dup c.2686-20_2686-7dup (n.2686-20_2686-7dup) c.1591-20_1591-7dup (n.1591-20_1591-7dup) c.1180-20_1180-7dup (n.1180-20_1180-7dup) n.2703-20_2703-7dup | gnomAD v4 |
5 | g.13886138_13886154dup | CA2673277332 | DNAH5 | c.2578-23_2578-7dup (n.2578-23_2578-7dup) c.2533-23_2533-7dup (n.2533-23_2533-7dup) n.2785-23_2785-7dup c.2686-23_2686-7dup (n.2686-23_2686-7dup) c.1591-23_1591-7dup (n.1591-23_1591-7dup) c.1180-23_1180-7dup (n.1180-23_1180-7dup) n.2703-23_2703-7dup | gnomAD v4 |
5 | g.13886154del | CA3204534 | DNAH5 | c.2578-7del (n.2578-7del) c.2533-7del (n.2533-7del) n.2785-7del c.2686-7del (n.2686-7del) c.1591-7del (n.1591-7del) c.1180-7del (n.1180-7del) n.2703-7del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886153_13886154del | CA3204533 | DNAH5 | c.2578-8_2578-7del (n.2578-8_2578-7del) c.2533-8_2533-7del (n.2533-8_2533-7del) n.2785-8_2785-7del c.2686-8_2686-7del (n.2686-8_2686-7del) c.1591-8_1591-7del (n.1591-8_1591-7del) c.1180-8_1180-7del (n.1180-8_1180-7del) n.2703-8_2703-7del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886152_13886154del | CA3204532 | DNAH5 | c.2578-9_2578-7del (n.2578-9_2578-7del) c.2533-9_2533-7del (n.2533-9_2533-7del) n.2785-9_2785-7del c.2686-9_2686-7del (n.2686-9_2686-7del) c.1591-9_1591-7del (n.1591-9_1591-7del) c.1180-9_1180-7del (n.1180-9_1180-7del) n.2703-9_2703-7del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886151_13886154del | CA3204536 | DNAH5 | c.2578-10_2578-7del (n.2578-10_2578-7del) c.2533-10_2533-7del (n.2533-10_2533-7del) n.2785-10_2785-7del c.2686-10_2686-7del (n.2686-10_2686-7del) c.1591-10_1591-7del (n.1591-10_1591-7del) c.1180-10_1180-7del (n.1180-10_1180-7del) n.2703-10_2703-7del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886150_13886154del | CA3204535 | DNAH5 | c.2578-11_2578-7del (n.2578-11_2578-7del) c.2533-11_2533-7del (n.2533-11_2533-7del) n.2785-11_2785-7del c.2686-11_2686-7del (n.2686-11_2686-7del) c.1591-11_1591-7del (n.1591-11_1591-7del) c.1180-11_1180-7del (n.1180-11_1180-7del) n.2703-11_2703-7del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886149_13886154del | CA443273755 | DNAH5 | c.2578-12_2578-7del (n.2578-12_2578-7del) c.2533-12_2533-7del (n.2533-12_2533-7del) n.2785-12_2785-7del c.2686-12_2686-7del (n.2686-12_2686-7del) c.1591-12_1591-7del (n.1591-12_1591-7del) c.1180-12_1180-7del (n.1180-12_1180-7del) n.2703-12_2703-7del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886148_13886154del | CA1073400439 | DNAH5 | c.2578-13_2578-7del (n.2578-13_2578-7del) c.2533-13_2533-7del (n.2533-13_2533-7del) n.2785-13_2785-7del c.2686-13_2686-7del (n.2686-13_2686-7del) c.1591-13_1591-7del (n.1591-13_1591-7del) c.1180-13_1180-7del (n.1180-13_1180-7del) n.2703-13_2703-7del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886147_13886154del | CA804560599 | DNAH5 | c.2578-14_2578-7del (n.2578-14_2578-7del) c.2533-14_2533-7del (n.2533-14_2533-7del) n.2785-14_2785-7del c.2686-14_2686-7del (n.2686-14_2686-7del) c.1591-14_1591-7del (n.1591-14_1591-7del) c.1180-14_1180-7del (n.1180-14_1180-7del) n.2703-14_2703-7del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886146_13886154del | CA1528483863 | DNAH5 | c.2578-15_2578-7del (n.2578-15_2578-7del) c.2533-15_2533-7del (n.2533-15_2533-7del) n.2785-15_2785-7del c.2686-15_2686-7del (n.2686-15_2686-7del) c.1591-15_1591-7del (n.1591-15_1591-7del) c.1180-15_1180-7del (n.1180-15_1180-7del) n.2703-15_2703-7del | dbSNP gnomAD v4 |
5 | g.13886145_13886154del | CA1528483862 | DNAH5 | c.2578-16_2578-7del (n.2578-16_2578-7del) c.2533-16_2533-7del (n.2533-16_2533-7del) n.2785-16_2785-7del c.2686-16_2686-7del (n.2686-16_2686-7del) c.1591-16_1591-7del (n.1591-16_1591-7del) c.1180-16_1180-7del (n.1180-16_1180-7del) n.2703-16_2703-7del | dbSNP gnomAD v4 |
5 | g.13886137A= | CA1528483864 | DNAH5 | c.2578-8T= (n.2578-8T=) c.2533-8T= (n.2533-8T=) n.2785-8T= c.2686-8T= (n.2686-8T=) c.1591-8T= (n.1591-8T=) c.1180-8T= (n.1180-8T=) n.2703-8T= | |
5 | g.13886137A>C | CA557877050 | DNAH5 | c.2578-8T>G (n.2578-8T>G) c.2533-8T>G (n.2533-8T>G) n.2785-8T>G c.2686-8T>G (n.2686-8T>G) c.1591-8T>G (n.1591-8T>G) c.1180-8T>G (n.1180-8T>G) n.2703-8T>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886138A= | CA1528483865 | DNAH5 | c.2578-9T= (n.2578-9T=) c.2533-9T= (n.2533-9T=) n.2785-9T= c.2686-9T= (n.2686-9T=) c.1591-9T= (n.1591-9T=) c.1180-9T= (n.1180-9T=) n.2703-9T= | |
5 | g.13886138A>C | CA557877051 | DNAH5 | c.2578-9T>G (n.2578-9T>G) c.2533-9T>G (n.2533-9T>G) n.2785-9T>G c.2686-9T>G (n.2686-9T>G) c.1591-9T>G (n.1591-9T>G) c.1180-9T>G (n.1180-9T>G) n.2703-9T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886139_13886140insCAA | CA2673277339 | DNAH5 | c.2578-9_2578-8insGTT (n.2578-9_2578-8insGTT) c.2533-9_2533-8insGTT (n.2533-9_2533-8insGTT) n.2785-9_2785-8insGTT c.2686-9_2686-8insGTT (n.2686-9_2686-8insGTT) c.1591-9_1591-8insGTT (n.1591-9_1591-8insGTT) c.1180-9_1180-8insGTT (n.1180-9_1180-8insGTT) n.2703-9_2703-8insGTT | gnomAD v4 |
5 | g.13886138_13886139insCC | CA1139768401 | DNAH5 | c.2578-10_2578-9insGG (n.2578-10_2578-9insGG) c.2533-10_2533-9insGG (n.2533-10_2533-9insGG) n.2785-10_2785-9insGG c.2686-10_2686-9insGG (n.2686-10_2686-9insGG) c.1591-10_1591-9insGG (n.1591-10_1591-9insGG) c.1180-10_1180-9insGG (n.1180-10_1180-9insGG) n.2703-10_2703-9insGG | |
5 | g.13886139A= | CA1528483866 | DNAH5 | c.2578-10T= (n.2578-10T=) c.2533-10T= (n.2533-10T=) n.2785-10T= c.2686-10T= (n.2686-10T=) c.1591-10T= (n.1591-10T=) c.1180-10T= (n.1180-10T=) n.2703-10T= | |
5 | g.13886139A>C | CA3204538 | DNAH5 | c.2578-10T>G (n.2578-10T>G) c.2533-10T>G (n.2533-10T>G) n.2785-10T>G c.2686-10T>G (n.2686-10T>G) c.1591-10T>G (n.1591-10T>G) c.1180-10T>G (n.1180-10T>G) n.2703-10T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886139A>T | CA2765351039 | DNAH5 | c.2578-10T>A (n.2578-10T>A) c.2533-10T>A (n.2533-10T>A) n.2785-10T>A c.2686-10T>A (n.2686-10T>A) c.1591-10T>A (n.1591-10T>A) c.1180-10T>A (n.1180-10T>A) n.2703-10T>A | |
5 | g.13886140A= | CA1528483867 | DNAH5 | c.2578-11T= (n.2578-11T=) c.2533-11T= (n.2533-11T=) n.2785-11T= c.2686-11T= (n.2686-11T=) c.1591-11T= (n.1591-11T=) c.1180-11T= (n.1180-11T=) n.2703-11T= | |
5 | g.13886140A>C | CA557877052 | DNAH5 | c.2578-11T>G (n.2578-11T>G) c.2533-11T>G (n.2533-11T>G) n.2785-11T>G c.2686-11T>G (n.2686-11T>G) c.1591-11T>G (n.1591-11T>G) c.1180-11T>G (n.1180-11T>G) n.2703-11T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886140A>G | CA2673277340 | DNAH5 | c.2578-11T>C (n.2578-11T>C) c.2533-11T>C (n.2533-11T>C) n.2785-11T>C c.2686-11T>C (n.2686-11T>C) c.1591-11T>C (n.1591-11T>C) c.1180-11T>C (n.1180-11T>C) n.2703-11T>C | gnomAD v4 |