Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13792006G>A | CA443263330 | DNAH5 | c.8436C>T (p.Ile2812=) c.8391C>T (p.Ile2797=) n.8643C>T c.8544C>T (p.Ile2848=) c.7449C>T (p.Ile2483=) c.3633C>T (p.Ile1211=) c.3186C>T (p.Ile1062=) c.2523C>T (p.Ile841=) c.7038C>T (p.Ile2346=) n.8561C>T | gnomAD v4 |
5 | g.13792006G>C | CA359218760 | DNAH5 | c.8436C>G (p.Ile2812Met) c.8391C>G (p.Ile2797Met) n.8643C>G c.8544C>G (p.Ile2848Met) c.7449C>G (p.Ile2483Met) c.3633C>G (p.Ile1211Met) c.3186C>G (p.Ile1062Met) c.2523C>G (p.Ile841Met) c.7038C>G (p.Ile2346Met) n.8561C>G | |
5 | g.13792006G>T | CA443263332 | DNAH5 | c.8436C>A (p.Ile2812=) c.8391C>A (p.Ile2797=) n.8643C>A c.8544C>A (p.Ile2848=) c.7449C>A (p.Ile2483=) c.3633C>A (p.Ile1211=) c.3186C>A (p.Ile1062=) c.2523C>A (p.Ile841=) c.7038C>A (p.Ile2346=) n.8561C>A | |
5 | g.13792007del | CA2673271067 | DNAH5 | c.8435del (p.Ile2812ThrfsTer8) c.8390del (p.Ile2797ThrfsTer8) n.8642del c.8543del (p.Ile2848ThrfsTer8) c.7448del (p.Ile2483ThrfsTer8) c.3632del (p.Ile1211ThrfsTer8) c.3185del (p.Ile1062ThrfsTer8) c.2522del (p.Ile841ThrfsTer8) c.7037del (p.Ile2346ThrfsTer8) n.8560del | gnomAD v4 |
5 | g.13792007A>C | CA359218762 | DNAH5 | c.8435T>G (p.Ile2812Ser) c.8390T>G (p.Ile2797Ser) n.8642T>G c.8543T>G (p.Ile2848Ser) c.7448T>G (p.Ile2483Ser) c.3632T>G (p.Ile1211Ser) c.3185T>G (p.Ile1062Ser) c.2522T>G (p.Ile841Ser) c.7037T>G (p.Ile2346Ser) n.8560T>G | |
5 | g.13792007A>G | CA359218764 | DNAH5 | c.8435T>C (p.Ile2812Thr) c.8390T>C (p.Ile2797Thr) n.8642T>C c.8543T>C (p.Ile2848Thr) c.7448T>C (p.Ile2483Thr) c.3632T>C (p.Ile1211Thr) c.3185T>C (p.Ile1062Thr) c.2522T>C (p.Ile841Thr) c.7037T>C (p.Ile2346Thr) n.8560T>C | |
5 | g.13792007A>T | CA359218761 | DNAH5 | c.8435T>A (p.Ile2812Asn) c.8390T>A (p.Ile2797Asn) n.8642T>A c.8543T>A (p.Ile2848Asn) c.7448T>A (p.Ile2483Asn) c.3632T>A (p.Ile1211Asn) c.3185T>A (p.Ile1062Asn) c.2522T>A (p.Ile841Asn) c.7037T>A (p.Ile2346Asn) n.8560T>A | |
5 | g.13792008T>A | CA359218765 | DNAH5 | c.8434A>T (p.Ile2812Phe) c.8389A>T (p.Ile2797Phe) n.8641A>T c.8542A>T (p.Ile2848Phe) c.7447A>T (p.Ile2483Phe) c.3631A>T (p.Ile1211Phe) c.3184A>T (p.Ile1062Phe) c.2521A>T (p.Ile841Phe) c.7036A>T (p.Ile2346Phe) n.8559A>T | |
5 | g.13792008T>C | CA3202826 | DNAH5 | c.8434A>G (p.Ile2812Val) c.8389A>G (p.Ile2797Val) n.8641A>G c.8542A>G (p.Ile2848Val) c.7447A>G (p.Ile2483Val) c.3631A>G (p.Ile1211Val) c.3184A>G (p.Ile1062Val) c.2521A>G (p.Ile841Val) c.7036A>G (p.Ile2346Val) n.8559A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13792008T>G | CA3202827 | DNAH5 | c.8434A>C (p.Ile2812Leu) c.8389A>C (p.Ile2797Leu) n.8641A>C c.8542A>C (p.Ile2848Leu) c.7447A>C (p.Ile2483Leu) c.3631A>C (p.Ile1211Leu) c.3184A>C (p.Ile1062Leu) c.2521A>C (p.Ile841Leu) c.7036A>C (p.Ile2346Leu) n.8559A>C | dbSNP ExAC gnomAD v2 |
5 | g.13792008T= | CA1528440927 | DNAH5 | c.8434A= (p.Ile2812=) c.8389A= (p.Ile2797=) n.8641A= c.8542A= (p.Ile2848=) c.7447A= (p.Ile2483=) c.3631A= (p.Ile1211=) c.3184A= (p.Ile1062=) c.2521A= (p.Ile841=) c.7036A= (p.Ile2346=) n.8559A= | |
5 | g.13792009G>A | CA113959978 | DNAH5 | c.8433C>T (p.Val2811=) c.8388C>T (p.Val2796=) n.8640C>T c.8541C>T (p.Val2847=) c.7446C>T (p.Val2482=) c.3630C>T (p.Val1210=) c.3183C>T (p.Val1061=) c.2520C>T (p.Val840=) c.7035C>T (p.Val2345=) n.8558C>T | dbSNP gnomAD v4 COSMIC |
5 | g.13792009G>C | CA443263340 | DNAH5 | c.8433C>G (p.Val2811=) c.8388C>G (p.Val2796=) n.8640C>G c.8541C>G (p.Val2847=) c.7446C>G (p.Val2482=) c.3630C>G (p.Val1210=) c.3183C>G (p.Val1061=) c.2520C>G (p.Val840=) c.7035C>G (p.Val2345=) n.8558C>G | |
5 | g.13792009G= | CA1528440928 | DNAH5 | c.8433C= (p.Val2811=) c.8388C= (p.Val2796=) n.8640C= c.8541C= (p.Val2847=) c.7446C= (p.Val2482=) c.3630C= (p.Val1210=) c.3183C= (p.Val1061=) c.2520C= (p.Val840=) c.7035C= (p.Val2345=) n.8558C= | |
5 | g.13792009G>T | CA443263337 | DNAH5 | c.8433C>A (p.Val2811=) c.8388C>A (p.Val2796=) n.8640C>A c.8541C>A (p.Val2847=) c.7446C>A (p.Val2482=) c.3630C>A (p.Val1210=) c.3183C>A (p.Val1061=) c.2520C>A (p.Val840=) c.7035C>A (p.Val2345=) n.8558C>A | |
5 | g.13792010A>C | CA359218768 | DNAH5 | c.8432T>G (p.Val2811Gly) c.8387T>G (p.Val2796Gly) n.8639T>G c.8540T>G (p.Val2847Gly) c.7445T>G (p.Val2482Gly) c.3629T>G (p.Val1210Gly) c.3182T>G (p.Val1061Gly) c.2519T>G (p.Val840Gly) c.7034T>G (p.Val2345Gly) n.8557T>G | |
5 | g.13792010A>G | CA359218770 | DNAH5 | c.8432T>C (p.Val2811Ala) c.8387T>C (p.Val2796Ala) n.8639T>C c.8540T>C (p.Val2847Ala) c.7445T>C (p.Val2482Ala) c.3629T>C (p.Val1210Ala) c.3182T>C (p.Val1061Ala) c.2519T>C (p.Val840Ala) c.7034T>C (p.Val2345Ala) n.8557T>C | |
5 | g.13792010A>T | CA359218772 | DNAH5 | c.8432T>A (p.Val2811Asp) c.8387T>A (p.Val2796Asp) n.8639T>A c.8540T>A (p.Val2847Asp) c.7445T>A (p.Val2482Asp) c.3629T>A (p.Val1210Asp) c.3182T>A (p.Val1061Asp) c.2519T>A (p.Val840Asp) c.7034T>A (p.Val2345Asp) n.8557T>A | |
5 | g.13792011C>A | CA359218773 | DNAH5 | c.8431G>T (p.Val2811Phe) c.8386G>T (p.Val2796Phe) n.8638G>T c.8539G>T (p.Val2847Phe) c.7444G>T (p.Val2482Phe) c.3628G>T (p.Val1210Phe) c.3181G>T (p.Val1061Phe) c.2518G>T (p.Val840Phe) c.7033G>T (p.Val2345Phe) n.8556G>T | |
5 | g.13792011C>G | CA359218774 | DNAH5 | c.8431G>C (p.Val2811Leu) c.8386G>C (p.Val2796Leu) n.8638G>C c.8539G>C (p.Val2847Leu) c.7444G>C (p.Val2482Leu) c.3628G>C (p.Val1210Leu) c.3181G>C (p.Val1061Leu) c.2518G>C (p.Val840Leu) c.7033G>C (p.Val2345Leu) n.8556G>C | |
5 | g.13792011C>T | CA359218775 | DNAH5 | c.8431G>A (p.Val2811Ile) c.8386G>A (p.Val2796Ile) n.8638G>A c.8539G>A (p.Val2847Ile) c.7444G>A (p.Val2482Ile) c.3628G>A (p.Val1210Ile) c.3181G>A (p.Val1061Ile) c.2518G>A (p.Val840Ile) c.7033G>A (p.Val2345Ile) n.8556G>A | |
5 | g.13792012C>A | CA359218776 | DNAH5 | c.8430G>T (p.Glu2810Asp) c.8385G>T (p.Glu2795Asp) n.8637G>T c.8538G>T (p.Glu2846Asp) c.7443G>T (p.Glu2481Asp) c.3627G>T (p.Glu1209Asp) c.3180G>T (p.Glu1060Asp) c.2517G>T (p.Glu839Asp) c.7032G>T (p.Glu2344Asp) n.8555G>T | gnomAD v4 |
5 | g.13792012C>G | CA359218777 | DNAH5 | c.8430G>C (p.Glu2810Asp) c.8385G>C (p.Glu2795Asp) n.8637G>C c.8538G>C (p.Glu2846Asp) c.7443G>C (p.Glu2481Asp) c.3627G>C (p.Glu1209Asp) c.3180G>C (p.Glu1060Asp) c.2517G>C (p.Glu839Asp) c.7032G>C (p.Glu2344Asp) n.8555G>C | |
5 | g.13792012C>T | CA443263346 | DNAH5 | c.8430G>A (p.Glu2810=) c.8385G>A (p.Glu2795=) n.8637G>A c.8538G>A (p.Glu2846=) c.7443G>A (p.Glu2481=) c.3627G>A (p.Glu1209=) c.3180G>A (p.Glu1060=) c.2517G>A (p.Glu839=) c.7032G>A (p.Glu2344=) n.8555G>A | |
5 | g.13792013T>A | CA359218782 | DNAH5 | c.8429A>T (p.Glu2810Val) c.8384A>T (p.Glu2795Val) n.8636A>T c.8537A>T (p.Glu2846Val) c.7442A>T (p.Glu2481Val) c.3626A>T (p.Glu1209Val) c.3179A>T (p.Glu1060Val) c.2516A>T (p.Glu839Val) c.7031A>T (p.Glu2344Val) n.8554A>T | COSMIC |
5 | g.13792013T>C | CA359218784 | DNAH5 | c.8429A>G (p.Glu2810Gly) c.8384A>G (p.Glu2795Gly) n.8636A>G c.8537A>G (p.Glu2846Gly) c.7442A>G (p.Glu2481Gly) c.3626A>G (p.Glu1209Gly) c.3179A>G (p.Glu1060Gly) c.2516A>G (p.Glu839Gly) c.7031A>G (p.Glu2344Gly) n.8554A>G | |
5 | g.13792013T>G | CA359218779 | DNAH5 | c.8429A>C (p.Glu2810Ala) c.8384A>C (p.Glu2795Ala) n.8636A>C c.8537A>C (p.Glu2846Ala) c.7442A>C (p.Glu2481Ala) c.3626A>C (p.Glu1209Ala) c.3179A>C (p.Glu1060Ala) c.2516A>C (p.Glu839Ala) c.7031A>C (p.Glu2344Ala) n.8554A>C | |
5 | g.13792014C>A | CA359218786 | DNAH5 | c.8428G>T (p.Glu2810Ter) c.8383G>T (p.Glu2795Ter) n.8635G>T c.8536G>T (p.Glu2846Ter) c.7441G>T (p.Glu2481Ter) c.3625G>T (p.Glu1209Ter) c.3178G>T (p.Glu1060Ter) c.2515G>T (p.Glu839Ter) c.7030G>T (p.Glu2344Ter) n.8553G>T | |
5 | g.13792014C>G | CA359218787 | DNAH5 | c.8428G>C (p.Glu2810Gln) c.8383G>C (p.Glu2795Gln) n.8635G>C c.8536G>C (p.Glu2846Gln) c.7441G>C (p.Glu2481Gln) c.3625G>C (p.Glu1209Gln) c.3178G>C (p.Glu1060Gln) c.2515G>C (p.Glu839Gln) c.7030G>C (p.Glu2344Gln) n.8553G>C | |
5 | g.13792014C>T | CA359218794 | DNAH5 | c.8428G>A (p.Glu2810Lys) c.8383G>A (p.Glu2795Lys) n.8635G>A c.8536G>A (p.Glu2846Lys) c.7441G>A (p.Glu2481Lys) c.3625G>A (p.Glu1209Lys) c.3178G>A (p.Glu1060Lys) c.2515G>A (p.Glu839Lys) c.7030G>A (p.Glu2344Lys) n.8553G>A | dbSNP |
5 | g.13792015T>A | CA443263354 | DNAH5 | c.8427A>T (p.Ser2809=) c.8382A>T (p.Ser2794=) n.8634A>T c.8535A>T (p.Ser2845=) c.7440A>T (p.Ser2480=) c.3624A>T (p.Ser1208=) c.3177A>T (p.Ser1059=) c.2514A>T (p.Ser838=) c.7029A>T (p.Ser2343=) n.8552A>T | |
5 | g.13792015T>C | CA443263351 | DNAH5 | c.8427A>G (p.Ser2809=) c.8382A>G (p.Ser2794=) n.8634A>G c.8535A>G (p.Ser2845=) c.7440A>G (p.Ser2480=) c.3624A>G (p.Ser1208=) c.3177A>G (p.Ser1059=) c.2514A>G (p.Ser838=) c.7029A>G (p.Ser2343=) n.8552A>G | gnomAD v4 |
5 | g.13792015T>G | CA443263352 | DNAH5 | c.8427A>C (p.Ser2809=) c.8382A>C (p.Ser2794=) n.8634A>C c.8535A>C (p.Ser2845=) c.7440A>C (p.Ser2480=) c.3624A>C (p.Ser1208=) c.3177A>C (p.Ser1059=) c.2514A>C (p.Ser838=) c.7029A>C (p.Ser2343=) n.8552A>C | |
5 | g.13792016G>A | CA113960012 | DNAH5 | c.8426C>T (p.Ser2809Leu) c.8381C>T (p.Ser2794Leu) n.8633C>T c.8534C>T (p.Ser2845Leu) c.7439C>T (p.Ser2480Leu) c.3623C>T (p.Ser1208Leu) c.3176C>T (p.Ser1059Leu) c.2513C>T (p.Ser838Leu) c.7028C>T (p.Ser2343Leu) n.8551C>T | dbSNP gnomAD v4 COSMIC |
5 | g.13792016G>C | CA359218796 | DNAH5 | c.8426C>G (p.Ser2809Ter) c.8381C>G (p.Ser2794Ter) n.8633C>G c.8534C>G (p.Ser2845Ter) c.7439C>G (p.Ser2480Ter) c.3623C>G (p.Ser1208Ter) c.3176C>G (p.Ser1059Ter) c.2513C>G (p.Ser838Ter) c.7028C>G (p.Ser2343Ter) n.8551C>G | |
5 | g.13792016G= | CA1528440929 | DNAH5 | c.8426C= (p.Ser2809=) c.8381C= (p.Ser2794=) n.8633C= c.8534C= (p.Ser2845=) c.7439C= (p.Ser2480=) c.3623C= (p.Ser1208=) c.3176C= (p.Ser1059=) c.2513C= (p.Ser838=) c.7028C= (p.Ser2343=) n.8551C= | |
5 | g.13792016G>T | CA359218797 | DNAH5 | c.8426C>A (p.Ser2809Ter) c.8381C>A (p.Ser2794Ter) n.8633C>A c.8534C>A (p.Ser2845Ter) c.7439C>A (p.Ser2480Ter) c.3623C>A (p.Ser1208Ter) c.3176C>A (p.Ser1059Ter) c.2513C>A (p.Ser838Ter) c.7028C>A (p.Ser2343Ter) n.8551C>A | |
5 | g.13792017A= | CA1528440930 | DNAH5 | c.8425T= (p.Ser2809=) c.8380T= (p.Ser2794=) n.8632T= c.8533T= (p.Ser2845=) c.7438T= (p.Ser2480=) c.3622T= (p.Ser1208=) c.3175T= (p.Ser1059=) c.2512T= (p.Ser838=) c.7027T= (p.Ser2343=) n.8550T= | |
5 | g.13792017A>C | CA359218799 | DNAH5 | c.8425T>G (p.Ser2809Ala) c.8380T>G (p.Ser2794Ala) n.8632T>G c.8533T>G (p.Ser2845Ala) c.7438T>G (p.Ser2480Ala) c.3622T>G (p.Ser1208Ala) c.3175T>G (p.Ser1059Ala) c.2512T>G (p.Ser838Ala) c.7027T>G (p.Ser2343Ala) n.8550T>G | |
5 | g.13792017A>G | CA359218801 | DNAH5 | c.8425T>C (p.Ser2809Pro) c.8380T>C (p.Ser2794Pro) n.8632T>C c.8533T>C (p.Ser2845Pro) c.7438T>C (p.Ser2480Pro) c.3622T>C (p.Ser1208Pro) c.3175T>C (p.Ser1059Pro) c.2512T>C (p.Ser838Pro) c.7027T>C (p.Ser2343Pro) n.8550T>C | |
5 | g.13792017A>T | CA359218800 | DNAH5 | c.8425T>A (p.Ser2809Thr) c.8380T>A (p.Ser2794Thr) n.8632T>A c.8533T>A (p.Ser2845Thr) c.7438T>A (p.Ser2480Thr) c.3622T>A (p.Ser1208Thr) c.3175T>A (p.Ser1059Thr) c.2512T>A (p.Ser838Thr) c.7027T>A (p.Ser2343Thr) n.8550T>A | |
5 | g.13792018A>C | CA443263360 | DNAH5 | c.8424T>G (p.Thr2808=) c.8379T>G (p.Thr2793=) n.8631T>G c.8532T>G (p.Thr2844=) c.7437T>G (p.Thr2479=) c.3621T>G (p.Thr1207=) c.3174T>G (p.Thr1058=) c.2511T>G (p.Thr837=) c.7026T>G (p.Thr2342=) n.8549T>G | |
5 | g.13792018A>G | CA443263361 | DNAH5 | c.8424T>C (p.Thr2808=) c.8379T>C (p.Thr2793=) n.8631T>C c.8532T>C (p.Thr2844=) c.7437T>C (p.Thr2479=) c.3621T>C (p.Thr1207=) c.3174T>C (p.Thr1058=) c.2511T>C (p.Thr837=) c.7026T>C (p.Thr2342=) n.8549T>C | |
5 | g.13792018A>T | CA443263362 | DNAH5 | c.8424T>A (p.Thr2808=) c.8379T>A (p.Thr2793=) n.8631T>A c.8532T>A (p.Thr2844=) c.7437T>A (p.Thr2479=) c.3621T>A (p.Thr1207=) c.3174T>A (p.Thr1058=) c.2511T>A (p.Thr837=) c.7026T>A (p.Thr2342=) n.8549T>A | |
5 | g.13792021_13792023dup | CA3202828 | DNAH5 | c.8422_8424dup (p.Thr2808_Ser2809insThr) c.8377_8379dup (p.Thr2793_Ser2794insThr) n.8629_8631dup c.8530_8532dup (p.Thr2844_Ser2845insThr) c.7435_7437dup (p.Thr2479_Ser2480insThr) c.3619_3621dup (p.Thr1207_Ser1208insThr) c.3172_3174dup (p.Thr1058_Ser1059insThr) c.2509_2511dup (p.Thr837_Ser838insThr) c.7024_7026dup (p.Thr2342_Ser2343insThr) n.8547_8549dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13792019G>A | CA359218804 | DNAH5 | c.8423C>T (p.Thr2808Ile) c.8378C>T (p.Thr2793Ile) n.8630C>T c.8531C>T (p.Thr2844Ile) c.7436C>T (p.Thr2479Ile) c.3620C>T (p.Thr1207Ile) c.3173C>T (p.Thr1058Ile) c.2510C>T (p.Thr837Ile) c.7025C>T (p.Thr2342Ile) n.8548C>T | dbSNP gnomAD v4 COSMIC |
5 | g.13792019G>C | CA359218806 | DNAH5 | c.8423C>G (p.Thr2808Ser) c.8378C>G (p.Thr2793Ser) n.8630C>G c.8531C>G (p.Thr2844Ser) c.7436C>G (p.Thr2479Ser) c.3620C>G (p.Thr1207Ser) c.3173C>G (p.Thr1058Ser) c.2510C>G (p.Thr837Ser) c.7025C>G (p.Thr2342Ser) n.8548C>G | gnomAD v4 |
5 | g.13792019G= | CA1528440931 | DNAH5 | c.8423C= (p.Thr2808=) c.8378C= (p.Thr2793=) n.8630C= c.8531C= (p.Thr2844=) c.7436C= (p.Thr2479=) c.3620C= (p.Thr1207=) c.3173C= (p.Thr1058=) c.2510C= (p.Thr837=) c.7025C= (p.Thr2342=) n.8548C= | |
5 | g.13792019G>T | CA359218808 | DNAH5 | c.8423C>A (p.Thr2808Asn) c.8378C>A (p.Thr2793Asn) n.8630C>A c.8531C>A (p.Thr2844Asn) c.7436C>A (p.Thr2479Asn) c.3620C>A (p.Thr1207Asn) c.3173C>A (p.Thr1058Asn) c.2510C>A (p.Thr837Asn) c.7025C>A (p.Thr2342Asn) n.8548C>A | |
5 | g.13792020T>A | CA359218813 | DNAH5 | c.8422A>T (p.Thr2808Ser) c.8377A>T (p.Thr2793Ser) n.8629A>T c.8530A>T (p.Thr2844Ser) c.7435A>T (p.Thr2479Ser) c.3619A>T (p.Thr1207Ser) c.3172A>T (p.Thr1058Ser) c.2509A>T (p.Thr837Ser) c.7024A>T (p.Thr2342Ser) n.8547A>T | |
5 | g.13792020T>C | CA359218812 | DNAH5 | c.8422A>G (p.Thr2808Ala) c.8377A>G (p.Thr2793Ala) n.8629A>G c.8530A>G (p.Thr2844Ala) c.7435A>G (p.Thr2479Ala) c.3619A>G (p.Thr1207Ala) c.3172A>G (p.Thr1058Ala) c.2509A>G (p.Thr837Ala) c.7024A>G (p.Thr2342Ala) n.8547A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13792020T>G | CA359218810 | DNAH5 | c.8422A>C (p.Thr2808Pro) c.8377A>C (p.Thr2793Pro) n.8629A>C c.8530A>C (p.Thr2844Pro) c.7435A>C (p.Thr2479Pro) c.3619A>C (p.Thr1207Pro) c.3172A>C (p.Thr1058Pro) c.2509A>C (p.Thr837Pro) c.7024A>C (p.Thr2342Pro) n.8547A>C | |
5 | g.13792020T= | CA1528440932 | DNAH5 | c.8422A= (p.Thr2808=) c.8377A= (p.Thr2793=) n.8629A= c.8530A= (p.Thr2844=) c.7435A= (p.Thr2479=) c.3619A= (p.Thr1207=) c.3172A= (p.Thr1058=) c.2509A= (p.Thr837=) c.7024A= (p.Thr2342=) n.8547A= | |
5 | g.13792021A>C | CA443263366 | DNAH5 | c.8421T>G (p.Thr2807=) c.8376T>G (p.Thr2792=) n.8628T>G c.8529T>G (p.Thr2843=) c.7434T>G (p.Thr2478=) c.3618T>G (p.Thr1206=) c.3171T>G (p.Thr1057=) c.2508T>G (p.Thr836=) c.7023T>G (p.Thr2341=) n.8546T>G | |
5 | g.13792021A>G | CA443263367 | DNAH5 | c.8421T>C (p.Thr2807=) c.8376T>C (p.Thr2792=) n.8628T>C c.8529T>C (p.Thr2843=) c.7434T>C (p.Thr2478=) c.3618T>C (p.Thr1206=) c.3171T>C (p.Thr1057=) c.2508T>C (p.Thr836=) c.7023T>C (p.Thr2341=) n.8546T>C | |
5 | g.13792021A>T | CA443263368 | DNAH5 | c.8421T>A (p.Thr2807=) c.8376T>A (p.Thr2792=) n.8628T>A c.8529T>A (p.Thr2843=) c.7434T>A (p.Thr2478=) c.3618T>A (p.Thr1206=) c.3171T>A (p.Thr1057=) c.2508T>A (p.Thr836=) c.7023T>A (p.Thr2341=) n.8546T>A | |
5 | g.13792022G>A | CA359218815 | DNAH5 | c.8420C>T (p.Thr2807Ile) c.8375C>T (p.Thr2792Ile) n.8627C>T c.8528C>T (p.Thr2843Ile) c.7433C>T (p.Thr2478Ile) c.3617C>T (p.Thr1206Ile) c.3170C>T (p.Thr1057Ile) c.2507C>T (p.Thr836Ile) c.7022C>T (p.Thr2341Ile) n.8545C>T | gnomAD v4 |
5 | g.13792022G>C | CA359218818 | DNAH5 | c.8420C>G (p.Thr2807Ser) c.8375C>G (p.Thr2792Ser) n.8627C>G c.8528C>G (p.Thr2843Ser) c.7433C>G (p.Thr2478Ser) c.3617C>G (p.Thr1206Ser) c.3170C>G (p.Thr1057Ser) c.2507C>G (p.Thr836Ser) c.7022C>G (p.Thr2341Ser) n.8545C>G | gnomAD v4 |
5 | g.13792022G>T | CA359218816 | DNAH5 | c.8420C>A (p.Thr2807Asn) c.8375C>A (p.Thr2792Asn) n.8627C>A c.8528C>A (p.Thr2843Asn) c.7433C>A (p.Thr2478Asn) c.3617C>A (p.Thr1206Asn) c.3170C>A (p.Thr1057Asn) c.2507C>A (p.Thr836Asn) c.7022C>A (p.Thr2341Asn) n.8545C>A | |
5 | g.13792023T>A | CA359218820 | DNAH5 | c.8419A>T (p.Thr2807Ser) c.8374A>T (p.Thr2792Ser) n.8626A>T c.8527A>T (p.Thr2843Ser) c.7432A>T (p.Thr2478Ser) c.3616A>T (p.Thr1206Ser) c.3169A>T (p.Thr1057Ser) c.2506A>T (p.Thr836Ser) c.7021A>T (p.Thr2341Ser) n.8544A>T | |
5 | g.13792023T>C | CA359218829 | DNAH5 | c.8419A>G (p.Thr2807Ala) c.8374A>G (p.Thr2792Ala) n.8626A>G c.8527A>G (p.Thr2843Ala) c.7432A>G (p.Thr2478Ala) c.3616A>G (p.Thr1206Ala) c.3169A>G (p.Thr1057Ala) c.2506A>G (p.Thr836Ala) c.7021A>G (p.Thr2341Ala) n.8544A>G | dbSNP gnomAD v4 |
5 | g.13792023T>G | CA359218834 | DNAH5 | c.8419A>C (p.Thr2807Pro) c.8374A>C (p.Thr2792Pro) n.8626A>C c.8527A>C (p.Thr2843Pro) c.7432A>C (p.Thr2478Pro) c.3616A>C (p.Thr1206Pro) c.3169A>C (p.Thr1057Pro) c.2506A>C (p.Thr836Pro) c.7021A>C (p.Thr2341Pro) n.8544A>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13792023T= | CA1528440933 | DNAH5 | c.8419A= (p.Thr2807=) c.8374A= (p.Thr2792=) n.8626A= c.8527A= (p.Thr2843=) c.7432A= (p.Thr2478=) c.3616A= (p.Thr1206=) c.3169A= (p.Thr1057=) c.2506A= (p.Thr836=) c.7021A= (p.Thr2341=) n.8544A= | |
5 | g.13792024G>A | CA113960023 | DNAH5 | c.8418C>T (p.Asn2806=) c.8373C>T (p.Asn2791=) n.8625C>T c.8526C>T (p.Asn2842=) c.7431C>T (p.Asn2477=) c.3615C>T (p.Asn1205=) c.3168C>T (p.Asn1056=) c.2505C>T (p.Asn835=) c.7020C>T (p.Asn2340=) n.8543C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792024G>C | CA359218838 | DNAH5 | c.8418C>G (p.Asn2806Lys) c.8373C>G (p.Asn2791Lys) n.8625C>G c.8526C>G (p.Asn2842Lys) c.7431C>G (p.Asn2477Lys) c.3615C>G (p.Asn1205Lys) c.3168C>G (p.Asn1056Lys) c.2505C>G (p.Asn835Lys) c.7020C>G (p.Asn2340Lys) n.8543C>G | |
5 | g.13792024G= | CA1528440934 | DNAH5 | c.8418C= (p.Asn2806=) c.8373C= (p.Asn2791=) n.8625C= c.8526C= (p.Asn2842=) c.7431C= (p.Asn2477=) c.3615C= (p.Asn1205=) c.3168C= (p.Asn1056=) c.2505C= (p.Asn835=) c.7020C= (p.Asn2340=) n.8543C= | |
5 | g.13792024G>T | CA3202829 | DNAH5 | c.8418C>A (p.Asn2806Lys) c.8373C>A (p.Asn2791Lys) n.8625C>A c.8526C>A (p.Asn2842Lys) c.7431C>A (p.Asn2477Lys) c.3615C>A (p.Asn1205Lys) c.3168C>A (p.Asn1056Lys) c.2505C>A (p.Asn835Lys) c.7020C>A (p.Asn2340Lys) n.8543C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13792025T>A | CA359218844 | DNAH5 | c.8417A>T (p.Asn2806Ile) c.8372A>T (p.Asn2791Ile) n.8624A>T c.8525A>T (p.Asn2842Ile) c.7430A>T (p.Asn2477Ile) c.3614A>T (p.Asn1205Ile) c.3167A>T (p.Asn1056Ile) c.2504A>T (p.Asn835Ile) c.7019A>T (p.Asn2340Ile) n.8542A>T | |
5 | g.13792025T>C | CA359218847 | DNAH5 | c.8417A>G (p.Asn2806Ser) c.8372A>G (p.Asn2791Ser) n.8624A>G c.8525A>G (p.Asn2842Ser) c.7430A>G (p.Asn2477Ser) c.3614A>G (p.Asn1205Ser) c.3167A>G (p.Asn1056Ser) c.2504A>G (p.Asn835Ser) c.7019A>G (p.Asn2340Ser) n.8542A>G | |
5 | g.13792025T>G | CA359218851 | DNAH5 | c.8417A>C (p.Asn2806Thr) c.8372A>C (p.Asn2791Thr) n.8624A>C c.8525A>C (p.Asn2842Thr) c.7430A>C (p.Asn2477Thr) c.3614A>C (p.Asn1205Thr) c.3167A>C (p.Asn1056Thr) c.2504A>C (p.Asn835Thr) c.7019A>C (p.Asn2340Thr) n.8542A>C | |
5 | g.13792026T>A | CA359218855 | DNAH5 | c.8416A>T (p.Asn2806Tyr) c.8371A>T (p.Asn2791Tyr) n.8623A>T c.8524A>T (p.Asn2842Tyr) c.7429A>T (p.Asn2477Tyr) c.3613A>T (p.Asn1205Tyr) c.3166A>T (p.Asn1056Tyr) c.2503A>T (p.Asn835Tyr) c.7018A>T (p.Asn2340Tyr) n.8541A>T | |
5 | g.13792026T>C | CA359218858 | DNAH5 | c.8416A>G (p.Asn2806Asp) c.8371A>G (p.Asn2791Asp) n.8623A>G c.8524A>G (p.Asn2842Asp) c.7429A>G (p.Asn2477Asp) c.3613A>G (p.Asn1205Asp) c.3166A>G (p.Asn1056Asp) c.2503A>G (p.Asn835Asp) c.7018A>G (p.Asn2340Asp) n.8541A>G | |
5 | g.13792026T>G | CA359218861 | DNAH5 | c.8416A>C (p.Asn2806His) c.8371A>C (p.Asn2791His) n.8623A>C c.8524A>C (p.Asn2842His) c.7429A>C (p.Asn2477His) c.3613A>C (p.Asn1205His) c.3166A>C (p.Asn1056His) c.2503A>C (p.Asn835His) c.7018A>C (p.Asn2340His) n.8541A>C | |
5 | g.13792027C>A | CA443263379 | DNAH5 | c.8415G>T (p.Leu2805=) c.8370G>T (p.Leu2790=) n.8622G>T c.8523G>T (p.Leu2841=) c.7428G>T (p.Leu2476=) c.3612G>T (p.Leu1204=) c.3165G>T (p.Leu1055=) c.2502G>T (p.Leu834=) c.7017G>T (p.Leu2339=) n.8540G>T | gnomAD v4 |
5 | g.13792027C>G | CA443263380 | DNAH5 | c.8415G>C (p.Leu2805=) c.8370G>C (p.Leu2790=) n.8622G>C c.8523G>C (p.Leu2841=) c.7428G>C (p.Leu2476=) c.3612G>C (p.Leu1204=) c.3165G>C (p.Leu1055=) c.2502G>C (p.Leu834=) c.7017G>C (p.Leu2339=) n.8540G>C | |
5 | g.13792027C>T | CA443263381 | DNAH5 | c.8415G>A (p.Leu2805=) c.8370G>A (p.Leu2790=) n.8622G>A c.8523G>A (p.Leu2841=) c.7428G>A (p.Leu2476=) c.3612G>A (p.Leu1204=) c.3165G>A (p.Leu1055=) c.2502G>A (p.Leu834=) c.7017G>A (p.Leu2339=) n.8540G>A | |
5 | g.13792028A= | CA1528440935 | DNAH5 | c.8414T= (p.Leu2805=) c.8369T= (p.Leu2790=) n.8621T= c.8522T= (p.Leu2841=) c.7427T= (p.Leu2476=) c.3611T= (p.Leu1204=) c.3164T= (p.Leu1055=) c.2501T= (p.Leu834=) c.7016T= (p.Leu2339=) n.8539T= | |
5 | g.13792028A>C | CA359218879 | DNAH5 | c.8414T>G (p.Leu2805Arg) c.8369T>G (p.Leu2790Arg) n.8621T>G c.8522T>G (p.Leu2841Arg) c.7427T>G (p.Leu2476Arg) c.3611T>G (p.Leu1204Arg) c.3164T>G (p.Leu1055Arg) c.2501T>G (p.Leu834Arg) c.7016T>G (p.Leu2339Arg) n.8539T>G | COSMIC |
5 | g.13792028A>G | CA359218874 | DNAH5 | c.8414T>C (p.Leu2805Pro) c.8369T>C (p.Leu2790Pro) n.8621T>C c.8522T>C (p.Leu2841Pro) c.7427T>C (p.Leu2476Pro) c.3611T>C (p.Leu1204Pro) c.3164T>C (p.Leu1055Pro) c.2501T>C (p.Leu834Pro) c.7016T>C (p.Leu2339Pro) n.8539T>C | dbSNP |
5 | g.13792028A>T | CA359218876 | DNAH5 | c.8414T>A (p.Leu2805Gln) c.8369T>A (p.Leu2790Gln) n.8621T>A c.8522T>A (p.Leu2841Gln) c.7427T>A (p.Leu2476Gln) c.3611T>A (p.Leu1204Gln) c.3164T>A (p.Leu1055Gln) c.2501T>A (p.Leu834Gln) c.7016T>A (p.Leu2339Gln) n.8539T>A | |
5 | g.13792029G>A | CA443263386 | DNAH5 | c.8413C>T (p.Leu2805=) c.8368C>T (p.Leu2790=) n.8620C>T c.8521C>T (p.Leu2841=) c.7426C>T (p.Leu2476=) c.3610C>T (p.Leu1204=) c.3163C>T (p.Leu1055=) c.2500C>T (p.Leu834=) c.7015C>T (p.Leu2339=) n.8538C>T | |
5 | g.13792029G>C | CA359218887 | DNAH5 | c.8413C>G (p.Leu2805Val) c.8368C>G (p.Leu2790Val) n.8620C>G c.8521C>G (p.Leu2841Val) c.7426C>G (p.Leu2476Val) c.3610C>G (p.Leu1204Val) c.3163C>G (p.Leu1055Val) c.2500C>G (p.Leu834Val) c.7015C>G (p.Leu2339Val) n.8538C>G | |
5 | g.13792029G>T | CA359218889 | DNAH5 | c.8413C>A (p.Leu2805Met) c.8368C>A (p.Leu2790Met) n.8620C>A c.8521C>A (p.Leu2841Met) c.7426C>A (p.Leu2476Met) c.3610C>A (p.Leu1204Met) c.3163C>A (p.Leu1055Met) c.2500C>A (p.Leu834Met) c.7015C>A (p.Leu2339Met) n.8538C>A | |
5 | g.13792030C>A | CA359218892 | DNAH5 | c.8412G>T (p.Met2804Ile) c.8367G>T (p.Met2789Ile) n.8619G>T c.8520G>T (p.Met2840Ile) c.7425G>T (p.Met2475Ile) c.3609G>T (p.Met1203Ile) c.3162G>T (p.Met1054Ile) c.2499G>T (p.Met833Ile) c.7014G>T (p.Met2338Ile) n.8537G>T | |
5 | g.13792030C= | CA1528440936 | DNAH5 | c.8412G= (p.Met2804=) c.8367G= (p.Met2789=) n.8619G= c.8520G= (p.Met2840=) c.7425G= (p.Met2475=) c.3609G= (p.Met1203=) c.3162G= (p.Met1054=) c.2499G= (p.Met833=) c.7014G= (p.Met2338=) n.8537G= | |
5 | g.13792030C>G | CA359218895 | DNAH5 | c.8412G>C (p.Met2804Ile) c.8367G>C (p.Met2789Ile) n.8619G>C c.8520G>C (p.Met2840Ile) c.7425G>C (p.Met2475Ile) c.3609G>C (p.Met1203Ile) c.3162G>C (p.Met1054Ile) c.2499G>C (p.Met833Ile) c.7014G>C (p.Met2338Ile) n.8537G>C | |
5 | g.13792030C>T | CA3202830 | DNAH5 | c.8412G>A (p.Met2804Ile) c.8367G>A (p.Met2789Ile) n.8619G>A c.8520G>A (p.Met2840Ile) c.7425G>A (p.Met2475Ile) c.3609G>A (p.Met1203Ile) c.3162G>A (p.Met1054Ile) c.2499G>A (p.Met833Ile) c.7014G>A (p.Met2338Ile) n.8537G>A | dbSNP ExAC gnomAD v2 |
5 | g.13792031A>C | CA359218902 | DNAH5 | c.8411T>G (p.Met2804Arg) c.8366T>G (p.Met2789Arg) n.8618T>G c.8519T>G (p.Met2840Arg) c.7424T>G (p.Met2475Arg) c.3608T>G (p.Met1203Arg) c.3161T>G (p.Met1054Arg) c.2498T>G (p.Met833Arg) c.7013T>G (p.Met2338Arg) n.8536T>G | |
5 | g.13792031A>G | CA359218905 | DNAH5 | c.8411T>C (p.Met2804Thr) c.8366T>C (p.Met2789Thr) n.8618T>C c.8519T>C (p.Met2840Thr) c.7424T>C (p.Met2475Thr) c.3608T>C (p.Met1203Thr) c.3161T>C (p.Met1054Thr) c.2498T>C (p.Met833Thr) c.7013T>C (p.Met2338Thr) n.8536T>C | |
5 | g.13792031A>T | CA359218907 | DNAH5 | c.8411T>A (p.Met2804Lys) c.8366T>A (p.Met2789Lys) n.8618T>A c.8519T>A (p.Met2840Lys) c.7424T>A (p.Met2475Lys) c.3608T>A (p.Met1203Lys) c.3161T>A (p.Met1054Lys) c.2498T>A (p.Met833Lys) c.7013T>A (p.Met2338Lys) n.8536T>A | |
5 | g.13792032T>A | CA359218909 | DNAH5 | c.8410A>T (p.Met2804Leu) c.8365A>T (p.Met2789Leu) n.8617A>T c.8518A>T (p.Met2840Leu) c.7423A>T (p.Met2475Leu) c.3607A>T (p.Met1203Leu) c.3160A>T (p.Met1054Leu) c.2497A>T (p.Met833Leu) c.7012A>T (p.Met2338Leu) n.8535A>T | gnomAD v4 |
5 | g.13792032T>C | CA3202831 | DNAH5 | c.8410A>G (p.Met2804Val) c.8365A>G (p.Met2789Val) n.8617A>G c.8518A>G (p.Met2840Val) c.7423A>G (p.Met2475Val) c.3607A>G (p.Met1203Val) c.3160A>G (p.Met1054Val) c.2497A>G (p.Met833Val) c.7012A>G (p.Met2338Val) n.8535A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792032T>G | CA359218915 | DNAH5 | c.8410A>C (p.Met2804Leu) c.8365A>C (p.Met2789Leu) n.8617A>C c.8518A>C (p.Met2840Leu) c.7423A>C (p.Met2475Leu) c.3607A>C (p.Met1203Leu) c.3160A>C (p.Met1054Leu) c.2497A>C (p.Met833Leu) c.7012A>C (p.Met2338Leu) n.8535A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792032T= | CA1528440937 | DNAH5 | c.8410A= (p.Met2804=) c.8365A= (p.Met2789=) n.8617A= c.8518A= (p.Met2840=) c.7423A= (p.Met2475=) c.3607A= (p.Met1203=) c.3160A= (p.Met1054=) c.2497A= (p.Met833=) c.7012A= (p.Met2338=) n.8535A= | |
5 | g.13792033T>A | CA443263389 | DNAH5 | c.8409A>T (p.Gly2803=) c.8364A>T (p.Gly2788=) n.8616A>T c.8517A>T (p.Gly2839=) c.7422A>T (p.Gly2474=) c.3606A>T (p.Gly1202=) c.3159A>T (p.Gly1053=) c.2496A>T (p.Gly832=) c.7011A>T (p.Gly2337=) n.8534A>T | |
5 | g.13792033T>C | CA443263390 | DNAH5 | c.8409A>G (p.Gly2803=) c.8364A>G (p.Gly2788=) n.8616A>G c.8517A>G (p.Gly2839=) c.7422A>G (p.Gly2474=) c.3606A>G (p.Gly1202=) c.3159A>G (p.Gly1053=) c.2496A>G (p.Gly832=) c.7011A>G (p.Gly2337=) n.8534A>G | ClinVar dbSNP |
5 | g.13792033T>G | CA443263391 | DNAH5 | c.8409A>C (p.Gly2803=) c.8364A>C (p.Gly2788=) n.8616A>C c.8517A>C (p.Gly2839=) c.7422A>C (p.Gly2474=) c.3606A>C (p.Gly1202=) c.3159A>C (p.Gly1053=) c.2496A>C (p.Gly832=) c.7011A>C (p.Gly2337=) n.8534A>C | |
5 | g.13792034C>A | CA359218921 | DNAH5 | c.8408G>T (p.Gly2803Val) c.8363G>T (p.Gly2788Val) n.8615G>T c.8516G>T (p.Gly2839Val) c.7421G>T (p.Gly2474Val) c.3605G>T (p.Gly1202Val) c.3158G>T (p.Gly1053Val) c.2495G>T (p.Gly832Val) c.7010G>T (p.Gly2337Val) n.8533G>T | |
5 | g.13792034C>G | CA359218928 | DNAH5 | c.8408G>C (p.Gly2803Ala) c.8363G>C (p.Gly2788Ala) n.8615G>C c.8516G>C (p.Gly2839Ala) c.7421G>C (p.Gly2474Ala) c.3605G>C (p.Gly1202Ala) c.3158G>C (p.Gly1053Ala) c.2495G>C (p.Gly832Ala) c.7010G>C (p.Gly2337Ala) n.8533G>C | |
5 | g.13792034C>T | CA359218918 | DNAH5 | c.8408G>A (p.Gly2803Glu) c.8363G>A (p.Gly2788Glu) n.8615G>A c.8516G>A (p.Gly2839Glu) c.7421G>A (p.Gly2474Glu) c.3605G>A (p.Gly1202Glu) c.3158G>A (p.Gly1053Glu) c.2495G>A (p.Gly832Glu) c.7010G>A (p.Gly2337Glu) n.8533G>A | gnomAD v4 |
5 | g.13792035C>A | CA359218930 | DNAH5 | c.8407G>T (p.Gly2803Ter) c.8362G>T (p.Gly2788Ter) n.8614G>T c.8515G>T (p.Gly2839Ter) c.7420G>T (p.Gly2474Ter) c.3604G>T (p.Gly1202Ter) c.3157G>T (p.Gly1053Ter) c.2494G>T (p.Gly832Ter) c.7009G>T (p.Gly2337Ter) n.8532G>T | |
5 | g.13792035C>G | CA359218932 | DNAH5 | c.8407G>C (p.Gly2803Arg) c.8362G>C (p.Gly2788Arg) n.8614G>C c.8515G>C (p.Gly2839Arg) c.7420G>C (p.Gly2474Arg) c.3604G>C (p.Gly1202Arg) c.3157G>C (p.Gly1053Arg) c.2494G>C (p.Gly832Arg) c.7009G>C (p.Gly2337Arg) n.8532G>C | |
5 | g.13792035C>T | CA359218935 | DNAH5 | c.8407G>A (p.Gly2803Arg) c.8362G>A (p.Gly2788Arg) n.8614G>A c.8515G>A (p.Gly2839Arg) c.7420G>A (p.Gly2474Arg) c.3604G>A (p.Gly1202Arg) c.3157G>A (p.Gly1053Arg) c.2494G>A (p.Gly832Arg) c.7009G>A (p.Gly2337Arg) n.8532G>A | |
5 | g.13792036C>A | CA359218938 | DNAH5 | c.8406G>T (p.Gln2802His) c.8361G>T (p.Gln2787His) n.8613G>T c.8514G>T (p.Gln2838His) c.7419G>T (p.Gln2473His) c.3603G>T (p.Gln1201His) c.3156G>T (p.Gln1052His) c.2493G>T (p.Gln831His) c.7008G>T (p.Gln2336His) n.8531G>T | |
5 | g.13792036C>G | CA359218941 | DNAH5 | c.8406G>C (p.Gln2802His) c.8361G>C (p.Gln2787His) n.8613G>C c.8514G>C (p.Gln2838His) c.7419G>C (p.Gln2473His) c.3603G>C (p.Gln1201His) c.3156G>C (p.Gln1052His) c.2493G>C (p.Gln831His) c.7008G>C (p.Gln2336His) n.8531G>C | |
5 | g.13792036C>T | CA443263393 | DNAH5 | c.8406G>A (p.Gln2802=) c.8361G>A (p.Gln2787=) n.8613G>A c.8514G>A (p.Gln2838=) c.7419G>A (p.Gln2473=) c.3603G>A (p.Gln1201=) c.3156G>A (p.Gln1052=) c.2493G>A (p.Gln831=) c.7008G>A (p.Gln2336=) n.8531G>A | |
5 | g.13792037T>A | CA359218950 | DNAH5 | c.8405A>T (p.Gln2802Leu) c.8360A>T (p.Gln2787Leu) n.8612A>T c.8513A>T (p.Gln2838Leu) c.7418A>T (p.Gln2473Leu) c.3602A>T (p.Gln1201Leu) c.3155A>T (p.Gln1052Leu) c.2492A>T (p.Gln831Leu) c.7007A>T (p.Gln2336Leu) n.8530A>T | |
5 | g.13792037T>C | CA359218947 | DNAH5 | c.8405A>G (p.Gln2802Arg) c.8360A>G (p.Gln2787Arg) n.8612A>G c.8513A>G (p.Gln2838Arg) c.7418A>G (p.Gln2473Arg) c.3602A>G (p.Gln1201Arg) c.3155A>G (p.Gln1052Arg) c.2492A>G (p.Gln831Arg) c.7007A>G (p.Gln2336Arg) n.8530A>G | gnomAD v4 |
5 | g.13792037T>G | CA359218944 | DNAH5 | c.8405A>C (p.Gln2802Pro) c.8360A>C (p.Gln2787Pro) n.8612A>C c.8513A>C (p.Gln2838Pro) c.7418A>C (p.Gln2473Pro) c.3602A>C (p.Gln1201Pro) c.3155A>C (p.Gln1052Pro) c.2492A>C (p.Gln831Pro) c.7007A>C (p.Gln2336Pro) n.8530A>C | |
5 | g.13792038G>A | CA359218951 | DNAH5 | c.8404C>T (p.Gln2802Ter) c.8359C>T (p.Gln2787Ter) n.8611C>T c.8512C>T (p.Gln2838Ter) c.7417C>T (p.Gln2473Ter) c.3601C>T (p.Gln1201Ter) c.3154C>T (p.Gln1052Ter) c.2491C>T (p.Gln831Ter) c.7006C>T (p.Gln2336Ter) n.8529C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792038G>C | CA359218954 | DNAH5 | c.8404C>G (p.Gln2802Glu) c.8359C>G (p.Gln2787Glu) n.8611C>G c.8512C>G (p.Gln2838Glu) c.7417C>G (p.Gln2473Glu) c.3601C>G (p.Gln1201Glu) c.3154C>G (p.Gln1052Glu) c.2491C>G (p.Gln831Glu) c.7006C>G (p.Gln2336Glu) n.8529C>G | gnomAD v4 |
5 | g.13792038G= | CA1528440938 | DNAH5 | c.8404C= (p.Gln2802=) c.8359C= (p.Gln2787=) n.8611C= c.8512C= (p.Gln2838=) c.7417C= (p.Gln2473=) c.3601C= (p.Gln1201=) c.3154C= (p.Gln1052=) c.2491C= (p.Gln831=) c.7006C= (p.Gln2336=) n.8529C= | |
5 | g.13792038G>T | CA359218957 | DNAH5 | c.8404C>A (p.Gln2802Lys) c.8359C>A (p.Gln2787Lys) n.8611C>A c.8512C>A (p.Gln2838Lys) c.7417C>A (p.Gln2473Lys) c.3601C>A (p.Gln1201Lys) c.3154C>A (p.Gln1052Lys) c.2491C>A (p.Gln831Lys) c.7006C>A (p.Gln2336Lys) n.8529C>A | |
5 | g.13792039C>A | CA359218960 | DNAH5 | c.8403G>T (p.Trp2801Cys) c.8358G>T (p.Trp2786Cys) n.8610G>T c.8511G>T (p.Trp2837Cys) c.7416G>T (p.Trp2472Cys) c.3600G>T (p.Trp1200Cys) c.3153G>T (p.Trp1051Cys) c.2490G>T (p.Trp830Cys) c.7005G>T (p.Trp2335Cys) n.8528G>T | gnomAD v4 |
5 | g.13792039C>G | CA359218969 | DNAH5 | c.8403G>C (p.Trp2801Cys) c.8358G>C (p.Trp2786Cys) n.8610G>C c.8511G>C (p.Trp2837Cys) c.7416G>C (p.Trp2472Cys) c.3600G>C (p.Trp1200Cys) c.3153G>C (p.Trp1051Cys) c.2490G>C (p.Trp830Cys) c.7005G>C (p.Trp2335Cys) n.8528G>C | |
5 | g.13792039C>T | CA359218972 | DNAH5 | c.8403G>A (p.Trp2801Ter) c.8358G>A (p.Trp2786Ter) n.8610G>A c.8511G>A (p.Trp2837Ter) c.7416G>A (p.Trp2472Ter) c.3600G>A (p.Trp1200Ter) c.3153G>A (p.Trp1051Ter) c.2490G>A (p.Trp830Ter) c.7005G>A (p.Trp2335Ter) n.8528G>A | |
5 | g.13792040del | CA2580072136 | DNAH5 | c.8403del (p.Trp2801CysfsTer5) c.8358del (p.Trp2786CysfsTer5) n.8610del c.8511del (p.Trp2837CysfsTer5) c.7416del (p.Trp2472CysfsTer5) c.3600del (p.Trp1200CysfsTer5) c.3153del (p.Trp1051CysfsTer5) c.2490del (p.Trp830CysfsTer5) c.7005del (p.Trp2335CysfsTer5) n.8528del | ClinVar |
5 | g.13792040C>A | CA359218973 | DNAH5 | c.8402G>T (p.Trp2801Leu) c.8357G>T (p.Trp2786Leu) n.8609G>T c.8510G>T (p.Trp2837Leu) c.7415G>T (p.Trp2472Leu) c.3599G>T (p.Trp1200Leu) c.3152G>T (p.Trp1051Leu) c.2489G>T (p.Trp830Leu) c.7004G>T (p.Trp2335Leu) n.8527G>T | |
5 | g.13792040C= | CA1528440939 | DNAH5 | c.8402G= (p.Trp2801=) c.8357G= (p.Trp2786=) n.8609G= c.8510G= (p.Trp2837=) c.7415G= (p.Trp2472=) c.3599G= (p.Trp1200=) c.3152G= (p.Trp1051=) c.2489G= (p.Trp830=) c.7004G= (p.Trp2335=) n.8527G= | |
5 | g.13792040C>G | CA359218979 | DNAH5 | c.8402G>C (p.Trp2801Ser) c.8357G>C (p.Trp2786Ser) n.8609G>C c.8510G>C (p.Trp2837Ser) c.7415G>C (p.Trp2472Ser) c.3599G>C (p.Trp1200Ser) c.3152G>C (p.Trp1051Ser) c.2489G>C (p.Trp830Ser) c.7004G>C (p.Trp2335Ser) n.8527G>C | |
5 | g.13792040C>T | CA359218976 | DNAH5 | c.8402G>A (p.Trp2801Ter) c.8357G>A (p.Trp2786Ter) n.8609G>A c.8510G>A (p.Trp2837Ter) c.7415G>A (p.Trp2472Ter) c.3599G>A (p.Trp1200Ter) c.3152G>A (p.Trp1051Ter) c.2489G>A (p.Trp830Ter) c.7004G>A (p.Trp2335Ter) n.8527G>A | dbSNP gnomAD v4 |
5 | g.13792041A>C | CA359218983 | DNAH5 | c.8401T>G (p.Trp2801Gly) c.8356T>G (p.Trp2786Gly) n.8608T>G c.8509T>G (p.Trp2837Gly) c.7414T>G (p.Trp2472Gly) c.3598T>G (p.Trp1200Gly) c.3151T>G (p.Trp1051Gly) c.2488T>G (p.Trp830Gly) c.7003T>G (p.Trp2335Gly) n.8526T>G | |
5 | g.13792041A>G | CA359218985 | DNAH5 | c.8401T>C (p.Trp2801Arg) c.8356T>C (p.Trp2786Arg) n.8608T>C c.8509T>C (p.Trp2837Arg) c.7414T>C (p.Trp2472Arg) c.3598T>C (p.Trp1200Arg) c.3151T>C (p.Trp1051Arg) c.2488T>C (p.Trp830Arg) c.7003T>C (p.Trp2335Arg) n.8526T>C | |
5 | g.13792041A>T | CA359219004 | DNAH5 | c.8401T>A (p.Trp2801Arg) c.8356T>A (p.Trp2786Arg) n.8608T>A c.8509T>A (p.Trp2837Arg) c.7414T>A (p.Trp2472Arg) c.3598T>A (p.Trp1200Arg) c.3151T>A (p.Trp1051Arg) c.2488T>A (p.Trp830Arg) c.7003T>A (p.Trp2335Arg) n.8526T>A | |
5 | g.13792042G>A | CA443263395 | DNAH5 | c.8400C>T (p.Val2800=) c.8355C>T (p.Val2785=) n.8607C>T c.8508C>T (p.Val2836=) c.7413C>T (p.Val2471=) c.3597C>T (p.Val1199=) c.3150C>T (p.Val1050=) c.2487C>T (p.Val829=) c.7002C>T (p.Val2334=) n.8525C>T | ClinVar COSMIC |
5 | g.13792042G>C | CA443263396 | DNAH5 | c.8400C>G (p.Val2800=) c.8355C>G (p.Val2785=) n.8607C>G c.8508C>G (p.Val2836=) c.7413C>G (p.Val2471=) c.3597C>G (p.Val1199=) c.3150C>G (p.Val1050=) c.2487C>G (p.Val829=) c.7002C>G (p.Val2334=) n.8525C>G | ClinVar dbSNP COSMIC |
5 | g.13792042G>T | CA443263397 | DNAH5 | c.8400C>A (p.Val2800=) c.8355C>A (p.Val2785=) n.8607C>A c.8508C>A (p.Val2836=) c.7413C>A (p.Val2471=) c.3597C>A (p.Val1199=) c.3150C>A (p.Val1050=) c.2487C>A (p.Val829=) c.7002C>A (p.Val2334=) n.8525C>A | |
5 | g.13792043A>C | CA359219006 | DNAH5 | c.8399T>G (p.Val2800Gly) c.8354T>G (p.Val2785Gly) n.8606T>G c.8507T>G (p.Val2836Gly) c.7412T>G (p.Val2471Gly) c.3596T>G (p.Val1199Gly) c.3149T>G (p.Val1050Gly) c.2486T>G (p.Val829Gly) c.7001T>G (p.Val2334Gly) n.8524T>G | |
5 | g.13792043A>G | CA359219008 | DNAH5 | c.8399T>C (p.Val2800Ala) c.8354T>C (p.Val2785Ala) n.8606T>C c.8507T>C (p.Val2836Ala) c.7412T>C (p.Val2471Ala) c.3596T>C (p.Val1199Ala) c.3149T>C (p.Val1050Ala) c.2486T>C (p.Val829Ala) c.7001T>C (p.Val2334Ala) n.8524T>C | |
5 | g.13792043A>T | CA359219009 | DNAH5 | c.8399T>A (p.Val2800Asp) c.8354T>A (p.Val2785Asp) n.8606T>A c.8507T>A (p.Val2836Asp) c.7412T>A (p.Val2471Asp) c.3596T>A (p.Val1199Asp) c.3149T>A (p.Val1050Asp) c.2486T>A (p.Val829Asp) c.7001T>A (p.Val2334Asp) n.8524T>A | |
5 | g.13792044C>A | CA359219011 | DNAH5 | c.8398G>T (p.Val2800Phe) c.8353G>T (p.Val2785Phe) n.8605G>T c.8506G>T (p.Val2836Phe) c.7411G>T (p.Val2471Phe) c.3595G>T (p.Val1199Phe) c.3148G>T (p.Val1050Phe) c.2485G>T (p.Val829Phe) c.7000G>T (p.Val2334Phe) n.8523G>T | |
5 | g.13792044C= | CA1528440940 | DNAH5 | c.8398G= (p.Val2800=) c.8353G= (p.Val2785=) n.8605G= c.8506G= (p.Val2836=) c.7411G= (p.Val2471=) c.3595G= (p.Val1199=) c.3148G= (p.Val1050=) c.2485G= (p.Val829=) c.7000G= (p.Val2334=) n.8523G= | |
5 | g.13792044C>G | CA359219013 | DNAH5 | c.8398G>C (p.Val2800Leu) c.8353G>C (p.Val2785Leu) n.8605G>C c.8506G>C (p.Val2836Leu) c.7411G>C (p.Val2471Leu) c.3595G>C (p.Val1199Leu) c.3148G>C (p.Val1050Leu) c.2485G>C (p.Val829Leu) c.7000G>C (p.Val2334Leu) n.8523G>C | gnomAD v4 |
5 | g.13792044C>T | CA3202832 | DNAH5 | c.8398G>A (p.Val2800Ile) c.8353G>A (p.Val2785Ile) n.8605G>A c.8506G>A (p.Val2836Ile) c.7411G>A (p.Val2471Ile) c.3595G>A (p.Val1199Ile) c.3148G>A (p.Val1050Ile) c.2485G>A (p.Val829Ile) c.7000G>A (p.Val2334Ile) n.8523G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13792045C>A | CA443263399 | DNAH5 | c.8397G>T (p.Arg2799=) c.8352G>T (p.Arg2784=) n.8604G>T c.8505G>T (p.Arg2835=) c.7410G>T (p.Arg2470=) c.3594G>T (p.Arg1198=) c.3147G>T (p.Arg1049=) c.2484G>T (p.Arg828=) c.6999G>T (p.Arg2333=) n.8522G>T | ClinVar dbSNP gnomAD v4 |
5 | g.13792045C= | CA1528440941 | DNAH5 | c.8397G= (p.Arg2799=) c.8352G= (p.Arg2784=) n.8604G= c.8505G= (p.Arg2835=) c.7410G= (p.Arg2470=) c.3594G= (p.Arg1198=) c.3147G= (p.Arg1049=) c.2484G= (p.Arg828=) c.6999G= (p.Arg2333=) n.8522G= | |
5 | g.13792045C>G | CA443263398 | DNAH5 | c.8397G>C (p.Arg2799=) c.8352G>C (p.Arg2784=) n.8604G>C c.8505G>C (p.Arg2835=) c.7410G>C (p.Arg2470=) c.3594G>C (p.Arg1198=) c.3147G>C (p.Arg1049=) c.2484G>C (p.Arg828=) c.6999G>C (p.Arg2333=) n.8522G>C | |
5 | g.13792045C>T | CA3202833 | DNAH5 | c.8397G>A (p.Arg2799=) c.8352G>A (p.Arg2784=) n.8604G>A c.8505G>A (p.Arg2835=) c.7410G>A (p.Arg2470=) c.3594G>A (p.Arg1198=) c.3147G>A (p.Arg1049=) c.2484G>A (p.Arg828=) c.6999G>A (p.Arg2333=) n.8522G>A | ClinVar dbSNP ExAC gnomAD v2 |
5 | g.13792046C>A | CA359219016 | DNAH5 | c.8396G>T (p.Arg2799Leu) c.8351G>T (p.Arg2784Leu) n.8603G>T c.8504G>T (p.Arg2835Leu) c.7409G>T (p.Arg2470Leu) c.3593G>T (p.Arg1198Leu) c.3146G>T (p.Arg1049Leu) c.2483G>T (p.Arg828Leu) c.6998G>T (p.Arg2333Leu) n.8521G>T | gnomAD v4 |
5 | g.13792046C= | CA1528440942 | DNAH5 | c.8396G= (p.Arg2799=) c.8351G= (p.Arg2784=) n.8603G= c.8504G= (p.Arg2835=) c.7409G= (p.Arg2470=) c.3593G= (p.Arg1198=) c.3146G= (p.Arg1049=) c.2483G= (p.Arg828=) c.6998G= (p.Arg2333=) n.8521G= | |
5 | g.13792046C>G | CA359219018 | DNAH5 | c.8396G>C (p.Arg2799Pro) c.8351G>C (p.Arg2784Pro) n.8603G>C c.8504G>C (p.Arg2835Pro) c.7409G>C (p.Arg2470Pro) c.3593G>C (p.Arg1198Pro) c.3146G>C (p.Arg1049Pro) c.2483G>C (p.Arg828Pro) c.6998G>C (p.Arg2333Pro) n.8521G>C | ClinVar dbSNP |
5 | g.13792046C>T | CA359219019 | DNAH5 | c.8396G>A (p.Arg2799Gln) c.8351G>A (p.Arg2784Gln) n.8603G>A c.8504G>A (p.Arg2835Gln) c.7409G>A (p.Arg2470Gln) c.3593G>A (p.Arg1198Gln) c.3146G>A (p.Arg1049Gln) c.2483G>A (p.Arg828Gln) c.6998G>A (p.Arg2333Gln) n.8521G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792047G>A | CA3202834 | DNAH5 | c.8395C>T (p.Arg2799Trp) c.8350C>T (p.Arg2784Trp) n.8602C>T c.8503C>T (p.Arg2835Trp) c.7408C>T (p.Arg2470Trp) c.3592C>T (p.Arg1198Trp) c.3145C>T (p.Arg1049Trp) c.2482C>T (p.Arg828Trp) c.6997C>T (p.Arg2333Trp) n.8520C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13792047G>C | CA359219021 | DNAH5 | c.8395C>G (p.Arg2799Gly) c.8350C>G (p.Arg2784Gly) n.8602C>G c.8503C>G (p.Arg2835Gly) c.7408C>G (p.Arg2470Gly) c.3592C>G (p.Arg1198Gly) c.3145C>G (p.Arg1049Gly) c.2482C>G (p.Arg828Gly) c.6997C>G (p.Arg2333Gly) n.8520C>G | COSMIC |
5 | g.13792047G= | CA1528440943 | DNAH5 | c.8395C= (p.Arg2799=) c.8350C= (p.Arg2784=) n.8602C= c.8503C= (p.Arg2835=) c.7408C= (p.Arg2470=) c.3592C= (p.Arg1198=) c.3145C= (p.Arg1049=) c.2482C= (p.Arg828=) c.6997C= (p.Arg2333=) n.8520C= | |
5 | g.13792047G>T | CA443263400 | DNAH5 | c.8395C>A (p.Arg2799=) c.8350C>A (p.Arg2784=) n.8602C>A c.8503C>A (p.Arg2835=) c.7408C>A (p.Arg2470=) c.3592C>A (p.Arg1198=) c.3145C>A (p.Arg1049=) c.2482C>A (p.Arg828=) c.6997C>A (p.Arg2333=) n.8520C>A | dbSNP |
5 | g.13792048A>C | CA443263401 | DNAH5 | c.8394T>G (p.Ser2798=) c.8349T>G (p.Ser2783=) n.8601T>G c.8502T>G (p.Ser2834=) c.7407T>G (p.Ser2469=) c.3591T>G (p.Ser1197=) c.3144T>G (p.Ser1048=) c.2481T>G (p.Ser827=) c.6996T>G (p.Ser2332=) n.8519T>G | |
5 | g.13792048A>G | CA443263402 | DNAH5 | c.8394T>C (p.Ser2798=) c.8349T>C (p.Ser2783=) n.8601T>C c.8502T>C (p.Ser2834=) c.7407T>C (p.Ser2469=) c.3591T>C (p.Ser1197=) c.3144T>C (p.Ser1048=) c.2481T>C (p.Ser827=) c.6996T>C (p.Ser2332=) n.8519T>C | |
5 | g.13792048A>T | CA443263403 | DNAH5 | c.8394T>A (p.Ser2798=) c.8349T>A (p.Ser2783=) n.8601T>A c.8502T>A (p.Ser2834=) c.7407T>A (p.Ser2469=) c.3591T>A (p.Ser1197=) c.3144T>A (p.Ser1048=) c.2481T>A (p.Ser827=) c.6996T>A (p.Ser2332=) n.8519T>A | |
5 | g.13792049G>A | CA359219023 | DNAH5 | c.8393C>T (p.Ser2798Phe) c.8348C>T (p.Ser2783Phe) n.8600C>T c.8501C>T (p.Ser2834Phe) c.7406C>T (p.Ser2469Phe) c.3590C>T (p.Ser1197Phe) c.3143C>T (p.Ser1048Phe) c.2480C>T (p.Ser827Phe) c.6995C>T (p.Ser2332Phe) n.8518C>T | |
5 | g.13792049G>C | CA359219029 | DNAH5 | c.8393C>G (p.Ser2798Cys) c.8348C>G (p.Ser2783Cys) n.8600C>G c.8501C>G (p.Ser2834Cys) c.7406C>G (p.Ser2469Cys) c.3590C>G (p.Ser1197Cys) c.3143C>G (p.Ser1048Cys) c.2480C>G (p.Ser827Cys) c.6995C>G (p.Ser2332Cys) n.8518C>G | |
5 | g.13792049G>T | CA359219025 | DNAH5 | c.8393C>A (p.Ser2798Tyr) c.8348C>A (p.Ser2783Tyr) n.8600C>A c.8501C>A (p.Ser2834Tyr) c.7406C>A (p.Ser2469Tyr) c.3590C>A (p.Ser1197Tyr) c.3143C>A (p.Ser1048Tyr) c.2480C>A (p.Ser827Tyr) c.6995C>A (p.Ser2332Tyr) n.8518C>A | |
5 | g.13792050A>C | CA359219031 | DNAH5 | c.8392T>G (p.Ser2798Ala) c.8347T>G (p.Ser2783Ala) n.8599T>G c.8500T>G (p.Ser2834Ala) c.7405T>G (p.Ser2469Ala) c.3589T>G (p.Ser1197Ala) c.3142T>G (p.Ser1048Ala) c.2479T>G (p.Ser827Ala) c.6994T>G (p.Ser2332Ala) n.8517T>G | |
5 | g.13792050A>G | CA359219035 | DNAH5 | c.8392T>C (p.Ser2798Pro) c.8347T>C (p.Ser2783Pro) n.8599T>C c.8500T>C (p.Ser2834Pro) c.7405T>C (p.Ser2469Pro) c.3589T>C (p.Ser1197Pro) c.3142T>C (p.Ser1048Pro) c.2479T>C (p.Ser827Pro) c.6994T>C (p.Ser2332Pro) n.8517T>C | |
5 | g.13792050A>T | CA359219032 | DNAH5 | c.8392T>A (p.Ser2798Thr) c.8347T>A (p.Ser2783Thr) n.8599T>A c.8500T>A (p.Ser2834Thr) c.7405T>A (p.Ser2469Thr) c.3589T>A (p.Ser1197Thr) c.3142T>A (p.Ser1048Thr) c.2479T>A (p.Ser827Thr) c.6994T>A (p.Ser2332Thr) n.8517T>A | gnomAD v4 |
5 | g.13792051A>C | CA443263404 | DNAH5 | c.8391T>G (p.Leu2797=) c.8346T>G (p.Leu2782=) n.8598T>G c.8499T>G (p.Leu2833=) c.7404T>G (p.Leu2468=) c.3588T>G (p.Leu1196=) c.3141T>G (p.Leu1047=) c.2478T>G (p.Leu826=) c.6993T>G (p.Leu2331=) n.8516T>G | |
5 | g.13792051A>G | CA443263406 | DNAH5 | c.8391T>C (p.Leu2797=) c.8346T>C (p.Leu2782=) n.8598T>C c.8499T>C (p.Leu2833=) c.7404T>C (p.Leu2468=) c.3588T>C (p.Leu1196=) c.3141T>C (p.Leu1047=) c.2478T>C (p.Leu826=) c.6993T>C (p.Leu2331=) n.8516T>C | |
5 | g.13792051A>T | CA443263405 | DNAH5 | c.8391T>A (p.Leu2797=) c.8346T>A (p.Leu2782=) n.8598T>A c.8499T>A (p.Leu2833=) c.7404T>A (p.Leu2468=) c.3588T>A (p.Leu1196=) c.3141T>A (p.Leu1047=) c.2478T>A (p.Leu826=) c.6993T>A (p.Leu2331=) n.8516T>A | |
5 | g.13792052A>C | CA359219037 | DNAH5 | c.8390T>G (p.Leu2797Arg) c.8345T>G (p.Leu2782Arg) n.8597T>G c.8498T>G (p.Leu2833Arg) c.7403T>G (p.Leu2468Arg) c.3587T>G (p.Leu1196Arg) c.3140T>G (p.Leu1047Arg) c.2477T>G (p.Leu826Arg) c.6992T>G (p.Leu2331Arg) n.8515T>G | |
5 | g.13792052A>G | CA359219041 | DNAH5 | c.8390T>C (p.Leu2797Pro) c.8345T>C (p.Leu2782Pro) n.8597T>C c.8498T>C (p.Leu2833Pro) c.7403T>C (p.Leu2468Pro) c.3587T>C (p.Leu1196Pro) c.3140T>C (p.Leu1047Pro) c.2477T>C (p.Leu826Pro) c.6992T>C (p.Leu2331Pro) n.8515T>C | |
5 | g.13792052A>T | CA359219039 | DNAH5 | c.8390T>A (p.Leu2797His) c.8345T>A (p.Leu2782His) n.8597T>A c.8498T>A (p.Leu2833His) c.7403T>A (p.Leu2468His) c.3587T>A (p.Leu1196His) c.3140T>A (p.Leu1047His) c.2477T>A (p.Leu826His) c.6992T>A (p.Leu2331His) n.8515T>A | |
5 | g.13792053G>A | CA359219044 | DNAH5 | c.8389C>T (p.Leu2797Phe) c.8344C>T (p.Leu2782Phe) n.8596C>T c.8497C>T (p.Leu2833Phe) c.7402C>T (p.Leu2468Phe) c.3586C>T (p.Leu1196Phe) c.3139C>T (p.Leu1047Phe) c.2476C>T (p.Leu826Phe) c.6991C>T (p.Leu2331Phe) n.8514C>T | |
5 | g.13792053G>C | CA359219047 | DNAH5 | c.8389C>G (p.Leu2797Val) c.8344C>G (p.Leu2782Val) n.8596C>G c.8497C>G (p.Leu2833Val) c.7402C>G (p.Leu2468Val) c.3586C>G (p.Leu1196Val) c.3139C>G (p.Leu1047Val) c.2476C>G (p.Leu826Val) c.6991C>G (p.Leu2331Val) n.8514C>G | |
5 | g.13792053G>T | CA359219046 | DNAH5 | c.8389C>A (p.Leu2797Ile) c.8344C>A (p.Leu2782Ile) n.8596C>A c.8497C>A (p.Leu2833Ile) c.7402C>A (p.Leu2468Ile) c.3586C>A (p.Leu1196Ile) c.3139C>A (p.Leu1047Ile) c.2476C>A (p.Leu826Ile) c.6991C>A (p.Leu2331Ile) n.8514C>A | |
5 | g.13792054A= | CA1528440944 | DNAH5 | c.8388T= (p.Asp2796=) c.8343T= (p.Asp2781=) n.8595T= c.8496T= (p.Asp2832=) c.7401T= (p.Asp2467=) c.3585T= (p.Asp1195=) c.3138T= (p.Asp1046=) c.2475T= (p.Asp825=) c.6990T= (p.Asp2330=) n.8513T= | |
5 | g.13792054A>C | CA359219050 | DNAH5 | c.8388T>G (p.Asp2796Glu) c.8343T>G (p.Asp2781Glu) n.8595T>G c.8496T>G (p.Asp2832Glu) c.7401T>G (p.Asp2467Glu) c.3585T>G (p.Asp1195Glu) c.3138T>G (p.Asp1046Glu) c.2475T>G (p.Asp825Glu) c.6990T>G (p.Asp2330Glu) n.8513T>G | |
5 | g.13792054A>G | CA443263407 | DNAH5 | c.8388T>C (p.Asp2796=) c.8343T>C (p.Asp2781=) n.8595T>C c.8496T>C (p.Asp2832=) c.7401T>C (p.Asp2467=) c.3585T>C (p.Asp1195=) c.3138T>C (p.Asp1046=) c.2475T>C (p.Asp825=) c.6990T>C (p.Asp2330=) n.8513T>C | ClinVar dbSNP |
5 | g.13792054A>T | CA359219051 | DNAH5 | c.8388T>A (p.Asp2796Glu) c.8343T>A (p.Asp2781Glu) n.8595T>A c.8496T>A (p.Asp2832Glu) c.7401T>A (p.Asp2467Glu) c.3585T>A (p.Asp1195Glu) c.3138T>A (p.Asp1046Glu) c.2475T>A (p.Asp825Glu) c.6990T>A (p.Asp2330Glu) n.8513T>A | |
5 | g.13792055T>A | CA359219054 | DNAH5 | c.8387A>T (p.Asp2796Val) c.8342A>T (p.Asp2781Val) n.8594A>T c.8495A>T (p.Asp2832Val) c.7400A>T (p.Asp2467Val) c.3584A>T (p.Asp1195Val) c.3137A>T (p.Asp1046Val) c.2474A>T (p.Asp825Val) c.6989A>T (p.Asp2330Val) n.8512A>T | gnomAD v4 |
5 | g.13792055T>C | CA175781 | DNAH5 | c.8387A>G (p.Asp2796Gly) c.8342A>G (p.Asp2781Gly) n.8594A>G c.8495A>G (p.Asp2832Gly) c.7400A>G (p.Asp2467Gly) c.3584A>G (p.Asp1195Gly) c.3137A>G (p.Asp1046Gly) c.2474A>G (p.Asp825Gly) c.6989A>G (p.Asp2330Gly) n.8512A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792055T>G | CA359219057 | DNAH5 | c.8387A>C (p.Asp2796Ala) c.8342A>C (p.Asp2781Ala) n.8594A>C c.8495A>C (p.Asp2832Ala) c.7400A>C (p.Asp2467Ala) c.3584A>C (p.Asp1195Ala) c.3137A>C (p.Asp1046Ala) c.2474A>C (p.Asp825Ala) c.6989A>C (p.Asp2330Ala) n.8512A>C | |
5 | g.13792055T= | CA1528440945 | DNAH5 | c.8387A= (p.Asp2796=) c.8342A= (p.Asp2781=) n.8594A= c.8495A= (p.Asp2832=) c.7400A= (p.Asp2467=) c.3584A= (p.Asp1195=) c.3137A= (p.Asp1046=) c.2474A= (p.Asp825=) c.6989A= (p.Asp2330=) n.8512A= | |
5 | g.13792056C>A | CA359219059 | DNAH5 | c.8386G>T (p.Asp2796Tyr) c.8341G>T (p.Asp2781Tyr) n.8593G>T c.8494G>T (p.Asp2832Tyr) c.7399G>T (p.Asp2467Tyr) c.3583G>T (p.Asp1195Tyr) c.3136G>T (p.Asp1046Tyr) c.2473G>T (p.Asp825Tyr) c.6988G>T (p.Asp2330Tyr) n.8511G>T | gnomAD v4 |
5 | g.13792056C>G | CA359219061 | DNAH5 | c.8386G>C (p.Asp2796His) c.8341G>C (p.Asp2781His) n.8593G>C c.8494G>C (p.Asp2832His) c.7399G>C (p.Asp2467His) c.3583G>C (p.Asp1195His) c.3136G>C (p.Asp1046His) c.2473G>C (p.Asp825His) c.6988G>C (p.Asp2330His) n.8511G>C | ClinVar dbSNP |
5 | g.13792056C>T | CA359219062 | DNAH5 | c.8386G>A (p.Asp2796Asn) c.8341G>A (p.Asp2781Asn) n.8593G>A c.8494G>A (p.Asp2832Asn) c.7399G>A (p.Asp2467Asn) c.3583G>A (p.Asp1195Asn) c.3136G>A (p.Asp1046Asn) c.2473G>A (p.Asp825Asn) c.6988G>A (p.Asp2330Asn) n.8511G>A | |
5 | g.13792056_13792057delinsCT | CA1528440946 | DNAH5 | c.8385_8386delinsAG (p.Arg2795=) c.8340_8341delinsAG (p.Arg2780=) n.8592_8593delinsAG c.8493_8494delinsAG (p.Arg2831=) c.7398_7399delinsAG (p.Arg2466=) c.3582_3583delinsAG (p.Arg1194=) c.3135_3136delinsAG (p.Arg1045=) c.2472_2473delinsAG (p.Arg824=) c.6987_6988delinsAG (p.Arg2329=) n.8510_8511delinsAG | |
5 | g.13792057del | CA557876593 | DNAH5 | c.8385del (p.Asp2796IlefsTer10) c.8340del (p.Asp2781IlefsTer10) n.8592del c.8493del (p.Asp2832IlefsTer10) c.7398del (p.Asp2467IlefsTer10) c.3582del (p.Asp1195IlefsTer10) c.3135del (p.Asp1046IlefsTer10) c.2472del (p.Asp825IlefsTer10) c.6987del (p.Asp2330IlefsTer10) n.8510del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13792057T>A | CA443263408 | DNAH5 | c.8385A>T (p.Arg2795=) c.8340A>T (p.Arg2780=) n.8592A>T c.8493A>T (p.Arg2831=) c.7398A>T (p.Arg2466=) c.3582A>T (p.Arg1194=) c.3135A>T (p.Arg1045=) c.2472A>T (p.Arg824=) c.6987A>T (p.Arg2329=) n.8510A>T | |
5 | g.13792057T>C | CA443263409 | DNAH5 | c.8385A>G (p.Arg2795=) c.8340A>G (p.Arg2780=) n.8592A>G c.8493A>G (p.Arg2831=) c.7398A>G (p.Arg2466=) c.3582A>G (p.Arg1194=) c.3135A>G (p.Arg1045=) c.2472A>G (p.Arg824=) c.6987A>G (p.Arg2329=) n.8510A>G | |
5 | g.13792057T>G | CA443263410 | DNAH5 | c.8385A>C (p.Arg2795=) c.8340A>C (p.Arg2780=) n.8592A>C c.8493A>C (p.Arg2831=) c.7398A>C (p.Arg2466=) c.3582A>C (p.Arg1194=) c.3135A>C (p.Arg1045=) c.2472A>C (p.Arg824=) c.6987A>C (p.Arg2329=) n.8510A>C | |
5 | g.13792058C>A | CA359219065 | DNAH5 | c.8384G>T (p.Arg2795Leu) c.8339G>T (p.Arg2780Leu) n.8591G>T c.8492G>T (p.Arg2831Leu) c.7397G>T (p.Arg2466Leu) c.3581G>T (p.Arg1194Leu) c.3134G>T (p.Arg1045Leu) c.2471G>T (p.Arg824Leu) c.6986G>T (p.Arg2329Leu) n.8509G>T | |
5 | g.13792058C= | CA1528440947 | DNAH5 | c.8384G= (p.Arg2795=) c.8339G= (p.Arg2780=) n.8591G= c.8492G= (p.Arg2831=) c.7397G= (p.Arg2466=) c.3581G= (p.Arg1194=) c.3134G= (p.Arg1045=) c.2471G= (p.Arg824=) c.6986G= (p.Arg2329=) n.8509G= | |
5 | g.13792058C>G | CA359219068 | DNAH5 | c.8384G>C (p.Arg2795Pro) c.8339G>C (p.Arg2780Pro) n.8591G>C c.8492G>C (p.Arg2831Pro) c.7397G>C (p.Arg2466Pro) c.3581G>C (p.Arg1194Pro) c.3134G>C (p.Arg1045Pro) c.2471G>C (p.Arg824Pro) c.6986G>C (p.Arg2329Pro) n.8509G>C | |
5 | g.13792058C>T | CA359219070 | DNAH5 | c.8384G>A (p.Arg2795Gln) c.8339G>A (p.Arg2780Gln) n.8591G>A c.8492G>A (p.Arg2831Gln) c.7397G>A (p.Arg2466Gln) c.3581G>A (p.Arg1194Gln) c.3134G>A (p.Arg1045Gln) c.2471G>A (p.Arg824Gln) c.6986G>A (p.Arg2329Gln) n.8509G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792059G>A | CA3202835 | DNAH5 | c.8383C>T (p.Arg2795Ter) c.8338C>T (p.Arg2780Ter) n.8590C>T c.8491C>T (p.Arg2831Ter) c.7396C>T (p.Arg2466Ter) c.3580C>T (p.Arg1194Ter) c.3133C>T (p.Arg1045Ter) c.2470C>T (p.Arg824Ter) c.6985C>T (p.Arg2329Ter) n.8508C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792059G>C | CA359219073 | DNAH5 | c.8383C>G (p.Arg2795Gly) c.8338C>G (p.Arg2780Gly) n.8590C>G c.8491C>G (p.Arg2831Gly) c.7396C>G (p.Arg2466Gly) c.3580C>G (p.Arg1194Gly) c.3133C>G (p.Arg1045Gly) c.2470C>G (p.Arg824Gly) c.6985C>G (p.Arg2329Gly) n.8508C>G | gnomAD v4 |
5 | g.13792059G= | CA1528440948 | DNAH5 | c.8383C= (p.Arg2795=) c.8338C= (p.Arg2780=) n.8590C= c.8491C= (p.Arg2831=) c.7396C= (p.Arg2466=) c.3580C= (p.Arg1194=) c.3133C= (p.Arg1045=) c.2470C= (p.Arg824=) c.6985C= (p.Arg2329=) n.8508C= | |
5 | g.13792059G>T | CA443263412 | DNAH5 | c.8383C>A (p.Arg2795=) c.8338C>A (p.Arg2780=) n.8590C>A c.8491C>A (p.Arg2831=) c.7396C>A (p.Arg2466=) c.3580C>A (p.Arg1194=) c.3133C>A (p.Arg1045=) c.2470C>A (p.Arg824=) c.6985C>A (p.Arg2329=) n.8508C>A | |
5 | g.13792060T>A | CA443263413 | DNAH5 | c.8382A>T (p.Leu2794=) c.8337A>T (p.Leu2779=) n.8589A>T c.8490A>T (p.Leu2830=) c.7395A>T (p.Leu2465=) c.3579A>T (p.Leu1193=) c.3132A>T (p.Leu1044=) c.2469A>T (p.Leu823=) c.6984A>T (p.Leu2328=) n.8507A>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792060T>C | CA3202836 | DNAH5 | c.8382A>G (p.Leu2794=) c.8337A>G (p.Leu2779=) n.8589A>G c.8490A>G (p.Leu2830=) c.7395A>G (p.Leu2465=) c.3579A>G (p.Leu1193=) c.3132A>G (p.Leu1044=) c.2469A>G (p.Leu823=) c.6984A>G (p.Leu2328=) n.8507A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792060T>G | CA443263414 | DNAH5 | c.8382A>C (p.Leu2794=) c.8337A>C (p.Leu2779=) n.8589A>C c.8490A>C (p.Leu2830=) c.7395A>C (p.Leu2465=) c.3579A>C (p.Leu1193=) c.3132A>C (p.Leu1044=) c.2469A>C (p.Leu823=) c.6984A>C (p.Leu2328=) n.8507A>C | |
5 | g.13792060T= | CA1528440949 | DNAH5 | c.8382A= (p.Leu2794=) c.8337A= (p.Leu2779=) n.8589A= c.8490A= (p.Leu2830=) c.7395A= (p.Leu2465=) c.3579A= (p.Leu1193=) c.3132A= (p.Leu1044=) c.2469A= (p.Leu823=) c.6984A= (p.Leu2328=) n.8507A= | |
5 | g.13792061A= | CA1528440950 | DNAH5 | c.8381T= (p.Leu2794=) c.8336T= (p.Leu2779=) n.8588T= c.8489T= (p.Leu2830=) c.7394T= (p.Leu2465=) c.3578T= (p.Leu1193=) c.3131T= (p.Leu1044=) c.2468T= (p.Leu823=) c.6983T= (p.Leu2328=) n.8506T= | |
5 | g.13792061A>C | CA359219076 | DNAH5 | c.8381T>G (p.Leu2794Arg) c.8336T>G (p.Leu2779Arg) n.8588T>G c.8489T>G (p.Leu2830Arg) c.7394T>G (p.Leu2465Arg) c.3578T>G (p.Leu1193Arg) c.3131T>G (p.Leu1044Arg) c.2468T>G (p.Leu823Arg) c.6983T>G (p.Leu2328Arg) n.8506T>G | |
5 | g.13792061A>G | CA113960090 | DNAH5 | c.8381T>C (p.Leu2794Pro) c.8336T>C (p.Leu2779Pro) n.8588T>C c.8489T>C (p.Leu2830Pro) c.7394T>C (p.Leu2465Pro) c.3578T>C (p.Leu1193Pro) c.3131T>C (p.Leu1044Pro) c.2468T>C (p.Leu823Pro) c.6983T>C (p.Leu2328Pro) n.8506T>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792061A>T | CA359219078 | DNAH5 | c.8381T>A (p.Leu2794Gln) c.8336T>A (p.Leu2779Gln) n.8588T>A c.8489T>A (p.Leu2830Gln) c.7394T>A (p.Leu2465Gln) c.3578T>A (p.Leu1193Gln) c.3131T>A (p.Leu1044Gln) c.2468T>A (p.Leu823Gln) c.6983T>A (p.Leu2328Gln) n.8506T>A | |
5 | g.13792062G>A | CA443263416 | DNAH5 | c.8380C>T (p.Leu2794=) c.8335C>T (p.Leu2779=) n.8587C>T c.8488C>T (p.Leu2830=) c.7393C>T (p.Leu2465=) c.3577C>T (p.Leu1193=) c.3130C>T (p.Leu1044=) c.2467C>T (p.Leu823=) c.6982C>T (p.Leu2328=) n.8505C>T | |
5 | g.13792062G>C | CA359219080 | DNAH5 | c.8380C>G (p.Leu2794Val) c.8335C>G (p.Leu2779Val) n.8587C>G c.8488C>G (p.Leu2830Val) c.7393C>G (p.Leu2465Val) c.3577C>G (p.Leu1193Val) c.3130C>G (p.Leu1044Val) c.2467C>G (p.Leu823Val) c.6982C>G (p.Leu2328Val) n.8505C>G | |
5 | g.13792062G>T | CA359219082 | DNAH5 | c.8380C>A (p.Leu2794Ile) c.8335C>A (p.Leu2779Ile) n.8587C>A c.8488C>A (p.Leu2830Ile) c.7393C>A (p.Leu2465Ile) c.3577C>A (p.Leu1193Ile) c.3130C>A (p.Leu1044Ile) c.2467C>A (p.Leu823Ile) c.6982C>A (p.Leu2328Ile) n.8505C>A | |
5 | g.13792063G>A | CA443263417 | DNAH5 | c.8379C>T (p.Asn2793=) c.8334C>T (p.Asn2778=) n.8586C>T c.8487C>T (p.Asn2829=) c.7392C>T (p.Asn2464=) c.3576C>T (p.Asn1192=) c.3129C>T (p.Asn1043=) c.2466C>T (p.Asn822=) c.6981C>T (p.Asn2327=) n.8504C>T | |
5 | g.13792063G>C | CA359219083 | DNAH5 | c.8379C>G (p.Asn2793Lys) c.8334C>G (p.Asn2778Lys) n.8586C>G c.8487C>G (p.Asn2829Lys) c.7392C>G (p.Asn2464Lys) c.3576C>G (p.Asn1192Lys) c.3129C>G (p.Asn1043Lys) c.2466C>G (p.Asn822Lys) c.6981C>G (p.Asn2327Lys) n.8504C>G | |
5 | g.13792063G>T | CA359219084 | DNAH5 | c.8379C>A (p.Asn2793Lys) c.8334C>A (p.Asn2778Lys) n.8586C>A c.8487C>A (p.Asn2829Lys) c.7392C>A (p.Asn2464Lys) c.3576C>A (p.Asn1192Lys) c.3129C>A (p.Asn1043Lys) c.2466C>A (p.Asn822Lys) c.6981C>A (p.Asn2327Lys) n.8504C>A | |
5 | g.13792064T>A | CA359219087 | DNAH5 | c.8378A>T (p.Asn2793Ile) c.8333A>T (p.Asn2778Ile) n.8585A>T c.8486A>T (p.Asn2829Ile) c.7391A>T (p.Asn2464Ile) c.3575A>T (p.Asn1192Ile) c.3128A>T (p.Asn1043Ile) c.2465A>T (p.Asn822Ile) c.6980A>T (p.Asn2327Ile) n.8503A>T | |
5 | g.13792064T>C | CA359219088 | DNAH5 | c.8378A>G (p.Asn2793Ser) c.8333A>G (p.Asn2778Ser) n.8585A>G c.8486A>G (p.Asn2829Ser) c.7391A>G (p.Asn2464Ser) c.3575A>G (p.Asn1192Ser) c.3128A>G (p.Asn1043Ser) c.2465A>G (p.Asn822Ser) c.6980A>G (p.Asn2327Ser) n.8503A>G | |
5 | g.13792064T>G | CA359219090 | DNAH5 | c.8378A>C (p.Asn2793Thr) c.8333A>C (p.Asn2778Thr) n.8585A>C c.8486A>C (p.Asn2829Thr) c.7391A>C (p.Asn2464Thr) c.3575A>C (p.Asn1192Thr) c.3128A>C (p.Asn1043Thr) c.2465A>C (p.Asn822Thr) c.6980A>C (p.Asn2327Thr) n.8503A>C | |
5 | g.13792065T>A | CA359219091 | DNAH5 | c.8377A>T (p.Asn2793Tyr) c.8332A>T (p.Asn2778Tyr) n.8584A>T c.8485A>T (p.Asn2829Tyr) c.7390A>T (p.Asn2464Tyr) c.3574A>T (p.Asn1192Tyr) c.3127A>T (p.Asn1043Tyr) c.2464A>T (p.Asn822Tyr) c.6979A>T (p.Asn2327Tyr) n.8502A>T | |
5 | g.13792065T>C | CA359219092 | DNAH5 | c.8377A>G (p.Asn2793Asp) c.8332A>G (p.Asn2778Asp) n.8584A>G c.8485A>G (p.Asn2829Asp) c.7390A>G (p.Asn2464Asp) c.3574A>G (p.Asn1192Asp) c.3127A>G (p.Asn1043Asp) c.2464A>G (p.Asn822Asp) c.6979A>G (p.Asn2327Asp) n.8502A>G | |
5 | g.13792065T>G | CA359219094 | DNAH5 | c.8377A>C (p.Asn2793His) c.8332A>C (p.Asn2778His) n.8584A>C c.8485A>C (p.Asn2829His) c.7390A>C (p.Asn2464His) c.3574A>C (p.Asn1192His) c.3127A>C (p.Asn1043His) c.2464A>C (p.Asn822His) c.6979A>C (p.Asn2327His) n.8502A>C | |
5 | g.13792066A>C | CA359219098 | DNAH5 | c.8376T>G (p.Phe2792Leu) c.8331T>G (p.Phe2777Leu) n.8583T>G c.8484T>G (p.Phe2828Leu) c.7389T>G (p.Phe2463Leu) c.3573T>G (p.Phe1191Leu) c.3126T>G (p.Phe1042Leu) c.2463T>G (p.Phe821Leu) c.6978T>G (p.Phe2326Leu) n.8501T>G | |
5 | g.13792066A>G | CA443263418 | DNAH5 | c.8376T>C (p.Phe2792=) c.8331T>C (p.Phe2777=) n.8583T>C c.8484T>C (p.Phe2828=) c.7389T>C (p.Phe2463=) c.3573T>C (p.Phe1191=) c.3126T>C (p.Phe1042=) c.2463T>C (p.Phe821=) c.6978T>C (p.Phe2326=) n.8501T>C | |
5 | g.13792066A>T | CA359219096 | DNAH5 | c.8376T>A (p.Phe2792Leu) c.8331T>A (p.Phe2777Leu) n.8583T>A c.8484T>A (p.Phe2828Leu) c.7389T>A (p.Phe2463Leu) c.3573T>A (p.Phe1191Leu) c.3126T>A (p.Phe1042Leu) c.2463T>A (p.Phe821Leu) c.6978T>A (p.Phe2326Leu) n.8501T>A | |
5 | g.13792067A>C | CA359219100 | DNAH5 | c.8375T>G (p.Phe2792Cys) c.8330T>G (p.Phe2777Cys) n.8582T>G c.8483T>G (p.Phe2828Cys) c.7388T>G (p.Phe2463Cys) c.3572T>G (p.Phe1191Cys) c.3125T>G (p.Phe1042Cys) c.2462T>G (p.Phe821Cys) c.6977T>G (p.Phe2326Cys) n.8500T>G | |
5 | g.13792067A>G | CA359219102 | DNAH5 | c.8375T>C (p.Phe2792Ser) c.8330T>C (p.Phe2777Ser) n.8582T>C c.8483T>C (p.Phe2828Ser) c.7388T>C (p.Phe2463Ser) c.3572T>C (p.Phe1191Ser) c.3125T>C (p.Phe1042Ser) c.2462T>C (p.Phe821Ser) c.6977T>C (p.Phe2326Ser) n.8500T>C | |
5 | g.13792067A>T | CA359219104 | DNAH5 | c.8375T>A (p.Phe2792Tyr) c.8330T>A (p.Phe2777Tyr) n.8582T>A c.8483T>A (p.Phe2828Tyr) c.7388T>A (p.Phe2463Tyr) c.3572T>A (p.Phe1191Tyr) c.3125T>A (p.Phe1042Tyr) c.2462T>A (p.Phe821Tyr) c.6977T>A (p.Phe2326Tyr) n.8500T>A | |
5 | g.13792068A= | CA1528440951 | DNAH5 | c.8374T= (p.Phe2792=) c.8329T= (p.Phe2777=) n.8581T= c.8482T= (p.Phe2828=) c.7387T= (p.Phe2463=) c.3571T= (p.Phe1191=) c.3124T= (p.Phe1042=) c.2461T= (p.Phe821=) c.6976T= (p.Phe2326=) n.8499T= | |
5 | g.13792068A>C | CA359219106 | DNAH5 | c.8374T>G (p.Phe2792Val) c.8329T>G (p.Phe2777Val) n.8581T>G c.8482T>G (p.Phe2828Val) c.7387T>G (p.Phe2463Val) c.3571T>G (p.Phe1191Val) c.3124T>G (p.Phe1042Val) c.2461T>G (p.Phe821Val) c.6976T>G (p.Phe2326Val) n.8499T>G | |
5 | g.13792068A>G | CA359219108 | DNAH5 | c.8374T>C (p.Phe2792Leu) c.8329T>C (p.Phe2777Leu) n.8581T>C c.8482T>C (p.Phe2828Leu) c.7387T>C (p.Phe2463Leu) c.3571T>C (p.Phe1191Leu) c.3124T>C (p.Phe1042Leu) c.2461T>C (p.Phe821Leu) c.6976T>C (p.Phe2326Leu) n.8499T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13792068A>T | CA359219110 | DNAH5 | c.8374T>A (p.Phe2792Ile) c.8329T>A (p.Phe2777Ile) n.8581T>A c.8482T>A (p.Phe2828Ile) c.7387T>A (p.Phe2463Ile) c.3571T>A (p.Phe1191Ile) c.3124T>A (p.Phe1042Ile) c.2461T>A (p.Phe821Ile) c.6976T>A (p.Phe2326Ile) n.8499T>A | |
5 | g.13792069C>A | CA443263419 | DNAH5 | c.8373G>T (p.Val2791=) c.8328G>T (p.Val2776=) n.8580G>T c.8481G>T (p.Val2827=) c.7386G>T (p.Val2462=) c.3570G>T (p.Val1190=) c.3123G>T (p.Val1041=) c.2460G>T (p.Val820=) c.6975G>T (p.Val2325=) n.8498G>T | ClinVar |
5 | g.13792069C>G | CA443263420 | DNAH5 | c.8373G>C (p.Val2791=) c.8328G>C (p.Val2776=) n.8580G>C c.8481G>C (p.Val2827=) c.7386G>C (p.Val2462=) c.3570G>C (p.Val1190=) c.3123G>C (p.Val1041=) c.2460G>C (p.Val820=) c.6975G>C (p.Val2325=) n.8498G>C | |
5 | g.13792069C>T | CA443263421 | DNAH5 | c.8373G>A (p.Val2791=) c.8328G>A (p.Val2776=) n.8580G>A c.8481G>A (p.Val2827=) c.7386G>A (p.Val2462=) c.3570G>A (p.Val1190=) c.3123G>A (p.Val1041=) c.2460G>A (p.Val820=) c.6975G>A (p.Val2325=) n.8498G>A | |
5 | g.13792070A>C | CA359219116 | DNAH5 | c.8372T>G (p.Val2791Gly) c.8327T>G (p.Val2776Gly) n.8579T>G c.8480T>G (p.Val2827Gly) c.7385T>G (p.Val2462Gly) c.3569T>G (p.Val1190Gly) c.3122T>G (p.Val1041Gly) c.2459T>G (p.Val820Gly) c.6974T>G (p.Val2325Gly) n.8497T>G | |
5 | g.13792070A>G | CA359219112 | DNAH5 | c.8372T>C (p.Val2791Ala) c.8327T>C (p.Val2776Ala) n.8579T>C c.8480T>C (p.Val2827Ala) c.7385T>C (p.Val2462Ala) c.3569T>C (p.Val1190Ala) c.3122T>C (p.Val1041Ala) c.2459T>C (p.Val820Ala) c.6974T>C (p.Val2325Ala) n.8497T>C | |
5 | g.13792070A>T | CA359219114 | DNAH5 | c.8372T>A (p.Val2791Glu) c.8327T>A (p.Val2776Glu) n.8579T>A c.8480T>A (p.Val2827Glu) c.7385T>A (p.Val2462Glu) c.3569T>A (p.Val1190Glu) c.3122T>A (p.Val1041Glu) c.2459T>A (p.Val820Glu) c.6974T>A (p.Val2325Glu) n.8497T>A | |
5 | g.13792071C>A | CA359219118 | DNAH5 | c.8371G>T (p.Val2791Leu) c.8326G>T (p.Val2776Leu) n.8578G>T c.8479G>T (p.Val2827Leu) c.7384G>T (p.Val2462Leu) c.3568G>T (p.Val1190Leu) c.3121G>T (p.Val1041Leu) c.2458G>T (p.Val820Leu) c.6973G>T (p.Val2325Leu) n.8496G>T | |
5 | g.13792071C= | CA1528440952 | DNAH5 | c.8371G= (p.Val2791=) c.8326G= (p.Val2776=) n.8578G= c.8479G= (p.Val2827=) c.7384G= (p.Val2462=) c.3568G= (p.Val1190=) c.3121G= (p.Val1041=) c.2458G= (p.Val820=) c.6973G= (p.Val2325=) n.8496G= | |
5 | g.13792071C>G | CA359219119 | DNAH5 | c.8371G>C (p.Val2791Leu) c.8326G>C (p.Val2776Leu) n.8578G>C c.8479G>C (p.Val2827Leu) c.7384G>C (p.Val2462Leu) c.3568G>C (p.Val1190Leu) c.3121G>C (p.Val1041Leu) c.2458G>C (p.Val820Leu) c.6973G>C (p.Val2325Leu) n.8496G>C | |
5 | g.13792071C>T | CA359219121 | DNAH5 | c.8371G>A (p.Val2791Met) c.8326G>A (p.Val2776Met) n.8578G>A c.8479G>A (p.Val2827Met) c.7384G>A (p.Val2462Met) c.3568G>A (p.Val1190Met) c.3121G>A (p.Val1041Met) c.2458G>A (p.Val820Met) c.6973G>A (p.Val2325Met) n.8496G>A | dbSNP gnomAD v4 COSMIC |
5 | g.13792072A>C | CA359219124 | DNAH5 | c.8370T>G (p.Tyr2790Ter) c.8325T>G (p.Tyr2775Ter) n.8577T>G c.8478T>G (p.Tyr2826Ter) c.7383T>G (p.Tyr2461Ter) c.3567T>G (p.Tyr1189Ter) c.3120T>G (p.Tyr1040Ter) c.2457T>G (p.Tyr819Ter) c.6972T>G (p.Tyr2324Ter) n.8495T>G | |
5 | g.13792072A>G | CA443263422 | DNAH5 | c.8370T>C (p.Tyr2790=) c.8325T>C (p.Tyr2775=) n.8577T>C c.8478T>C (p.Tyr2826=) c.7383T>C (p.Tyr2461=) c.3567T>C (p.Tyr1189=) c.3120T>C (p.Tyr1040=) c.2457T>C (p.Tyr819=) c.6972T>C (p.Tyr2324=) n.8495T>C | ClinVar gnomAD v4 |
5 | g.13792072A>T | CA359219125 | DNAH5 | c.8370T>A (p.Tyr2790Ter) c.8325T>A (p.Tyr2775Ter) n.8577T>A c.8478T>A (p.Tyr2826Ter) c.7383T>A (p.Tyr2461Ter) c.3567T>A (p.Tyr1189Ter) c.3120T>A (p.Tyr1040Ter) c.2457T>A (p.Tyr819Ter) c.6972T>A (p.Tyr2324Ter) n.8495T>A | ClinVar |
5 | g.13792073T>A | CA359219126 | DNAH5 | c.8369A>T (p.Tyr2790Phe) c.8324A>T (p.Tyr2775Phe) n.8576A>T c.8477A>T (p.Tyr2826Phe) c.7382A>T (p.Tyr2461Phe) c.3566A>T (p.Tyr1189Phe) c.3119A>T (p.Tyr1040Phe) c.2456A>T (p.Tyr819Phe) c.6971A>T (p.Tyr2324Phe) n.8494A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792073T>C | CA3202837 | DNAH5 | c.8369A>G (p.Tyr2790Cys) c.8324A>G (p.Tyr2775Cys) n.8576A>G c.8477A>G (p.Tyr2826Cys) c.7382A>G (p.Tyr2461Cys) c.3566A>G (p.Tyr1189Cys) c.3119A>G (p.Tyr1040Cys) c.2456A>G (p.Tyr819Cys) c.6971A>G (p.Tyr2324Cys) n.8494A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792073T>G | CA359219128 | DNAH5 | c.8369A>C (p.Tyr2790Ser) c.8324A>C (p.Tyr2775Ser) n.8576A>C c.8477A>C (p.Tyr2826Ser) c.7382A>C (p.Tyr2461Ser) c.3566A>C (p.Tyr1189Ser) c.3119A>C (p.Tyr1040Ser) c.2456A>C (p.Tyr819Ser) c.6971A>C (p.Tyr2324Ser) n.8494A>C | |
5 | g.13792073T= | CA1528440953 | DNAH5 | c.8369A= (p.Tyr2790=) c.8324A= (p.Tyr2775=) n.8576A= c.8477A= (p.Tyr2826=) c.7382A= (p.Tyr2461=) c.3566A= (p.Tyr1189=) c.3119A= (p.Tyr1040=) c.2456A= (p.Tyr819=) c.6971A= (p.Tyr2324=) n.8494A= | |
5 | g.13792074A= | CA1528440954 | DNAH5 | c.8368T= (p.Tyr2790=) c.8323T= (p.Tyr2775=) n.8575T= c.8476T= (p.Tyr2826=) c.7381T= (p.Tyr2461=) c.3565T= (p.Tyr1189=) c.3118T= (p.Tyr1040=) c.2455T= (p.Tyr819=) c.6970T= (p.Tyr2324=) n.8493T= | |
5 | g.13792074A>C | CA359219132 | DNAH5 | c.8368T>G (p.Tyr2790Asp) c.8323T>G (p.Tyr2775Asp) n.8575T>G c.8476T>G (p.Tyr2826Asp) c.7381T>G (p.Tyr2461Asp) c.3565T>G (p.Tyr1189Asp) c.3118T>G (p.Tyr1040Asp) c.2455T>G (p.Tyr819Asp) c.6970T>G (p.Tyr2324Asp) n.8493T>G | dbSNP gnomAD v4 |
5 | g.13792074A>G | CA359219134 | DNAH5 | c.8368T>C (p.Tyr2790His) c.8323T>C (p.Tyr2775His) n.8575T>C c.8476T>C (p.Tyr2826His) c.7381T>C (p.Tyr2461His) c.3565T>C (p.Tyr1189His) c.3118T>C (p.Tyr1040His) c.2455T>C (p.Tyr819His) c.6970T>C (p.Tyr2324His) n.8493T>C | |
5 | g.13792074A>T | CA359219136 | DNAH5 | c.8368T>A (p.Tyr2790Asn) c.8323T>A (p.Tyr2775Asn) n.8575T>A c.8476T>A (p.Tyr2826Asn) c.7381T>A (p.Tyr2461Asn) c.3565T>A (p.Tyr1189Asn) c.3118T>A (p.Tyr1040Asn) c.2455T>A (p.Tyr819Asn) c.6970T>A (p.Tyr2324Asn) n.8493T>A | |
5 | g.13792075dup | CA2673271068 | DNAH5 | c.8368dup (p.Tyr2790LeufsTer4) c.8323dup (p.Tyr2775LeufsTer4) n.8575dup c.8476dup (p.Tyr2826LeufsTer4) c.7381dup (p.Tyr2461LeufsTer4) c.3565dup (p.Tyr1189LeufsTer4) c.3118dup (p.Tyr1040LeufsTer4) c.2455dup (p.Tyr819LeufsTer4) c.6970dup (p.Tyr2324LeufsTer4) n.8493dup | gnomAD v4 |
5 | g.13792075del | CA2695204156 | DNAH5 | c.8368del (p.Tyr2790MetfsTer16) c.8323del (p.Tyr2775MetfsTer16) n.8575del c.8476del (p.Tyr2826MetfsTer16) c.7381del (p.Tyr2461MetfsTer16) c.3565del (p.Tyr1189MetfsTer16) c.3118del (p.Tyr1040MetfsTer16) c.2455del (p.Tyr819MetfsTer16) c.6970del (p.Tyr2324MetfsTer16) n.8493del | |
5 | g.13792075A>C | CA359219138 | DNAH5 | c.8367T>G (p.His2789Gln) c.8322T>G (p.His2774Gln) n.8574T>G c.8475T>G (p.His2825Gln) c.7380T>G (p.His2460Gln) c.3564T>G (p.His1188Gln) c.3117T>G (p.His1039Gln) c.2454T>G (p.His818Gln) c.6969T>G (p.His2323Gln) n.8492T>G | |
5 | g.13792075A>G | CA443263424 | DNAH5 | c.8367T>C (p.His2789=) c.8322T>C (p.His2774=) n.8574T>C c.8475T>C (p.His2825=) c.7380T>C (p.His2460=) c.3564T>C (p.His1188=) c.3117T>C (p.His1039=) c.2454T>C (p.His818=) c.6969T>C (p.His2323=) n.8492T>C | |
5 | g.13792075A>T | CA359219139 | DNAH5 | c.8367T>A (p.His2789Gln) c.8322T>A (p.His2774Gln) n.8574T>A c.8475T>A (p.His2825Gln) c.7380T>A (p.His2460Gln) c.3564T>A (p.His1188Gln) c.3117T>A (p.His1039Gln) c.2454T>A (p.His818Gln) c.6969T>A (p.His2323Gln) n.8492T>A | gnomAD v4 |
5 | g.13792076T>A | CA359219141 | DNAH5 | c.8366A>T (p.His2789Leu) c.8321A>T (p.His2774Leu) n.8573A>T c.8474A>T (p.His2825Leu) c.7379A>T (p.His2460Leu) c.3563A>T (p.His1188Leu) c.3116A>T (p.His1039Leu) c.2453A>T (p.His818Leu) c.6968A>T (p.His2323Leu) n.8491A>T | dbSNP gnomAD v4 |
5 | g.13792076T>C | CA359219143 | DNAH5 | c.8366A>G (p.His2789Arg) c.8321A>G (p.His2774Arg) n.8573A>G c.8474A>G (p.His2825Arg) c.7379A>G (p.His2460Arg) c.3563A>G (p.His1188Arg) c.3116A>G (p.His1039Arg) c.2453A>G (p.His818Arg) c.6968A>G (p.His2323Arg) n.8491A>G | |
5 | g.13792076T>G | CA359219145 | DNAH5 | c.8366A>C (p.His2789Pro) c.8321A>C (p.His2774Pro) n.8573A>C c.8474A>C (p.His2825Pro) c.7379A>C (p.His2460Pro) c.3563A>C (p.His1188Pro) c.3116A>C (p.His1039Pro) c.2453A>C (p.His818Pro) c.6968A>C (p.His2323Pro) n.8491A>C | dbSNP |
5 | g.13792076T= | CA1528440955 | DNAH5 | c.8366A= (p.His2789=) c.8321A= (p.His2774=) n.8573A= c.8474A= (p.His2825=) c.7379A= (p.His2460=) c.3563A= (p.His1188=) c.3116A= (p.His1039=) c.2453A= (p.His818=) c.6968A= (p.His2323=) n.8491A= | |
5 | g.13792077G>A | CA359219147 | DNAH5 | c.8365C>T (p.His2789Tyr) c.8320C>T (p.His2774Tyr) n.8572C>T c.8473C>T (p.His2825Tyr) c.7378C>T (p.His2460Tyr) c.3562C>T (p.His1188Tyr) c.3115C>T (p.His1039Tyr) c.2452C>T (p.His818Tyr) c.6967C>T (p.His2323Tyr) n.8490C>T | COSMIC |
5 | g.13792077G>C | CA359219148 | DNAH5 | c.8365C>G (p.His2789Asp) c.8320C>G (p.His2774Asp) n.8572C>G c.8473C>G (p.His2825Asp) c.7378C>G (p.His2460Asp) c.3562C>G (p.His1188Asp) c.3115C>G (p.His1039Asp) c.2452C>G (p.His818Asp) c.6967C>G (p.His2323Asp) n.8490C>G | |
5 | g.13792077G>T | CA359219150 | DNAH5 | c.8365C>A (p.His2789Asn) c.8320C>A (p.His2774Asn) n.8572C>A c.8473C>A (p.His2825Asn) c.7378C>A (p.His2460Asn) c.3562C>A (p.His1188Asn) c.3115C>A (p.His1039Asn) c.2452C>A (p.His818Asn) c.6967C>A (p.His2323Asn) n.8490C>A | |
5 | g.13792078G>A | CA443263425 | DNAH5 | c.8364C>T (p.Phe2788=) c.8319C>T (p.Phe2773=) n.8571C>T c.8472C>T (p.Phe2824=) c.7377C>T (p.Phe2459=) c.3561C>T (p.Phe1187=) c.3114C>T (p.Phe1038=) c.2451C>T (p.Phe817=) c.6966C>T (p.Phe2322=) n.8489C>T | COSMIC |
5 | g.13792078G>C | CA359219151 | DNAH5 | c.8364C>G (p.Phe2788Leu) c.8319C>G (p.Phe2773Leu) n.8571C>G c.8472C>G (p.Phe2824Leu) c.7377C>G (p.Phe2459Leu) c.3561C>G (p.Phe1187Leu) c.3114C>G (p.Phe1038Leu) c.2451C>G (p.Phe817Leu) c.6966C>G (p.Phe2322Leu) n.8489C>G | |
5 | g.13792078G>T | CA359219152 | DNAH5 | c.8364C>A (p.Phe2788Leu) c.8319C>A (p.Phe2773Leu) n.8571C>A c.8472C>A (p.Phe2824Leu) c.7377C>A (p.Phe2459Leu) c.3561C>A (p.Phe1187Leu) c.3114C>A (p.Phe1038Leu) c.2451C>A (p.Phe817Leu) c.6966C>A (p.Phe2322Leu) n.8489C>A | |
5 | g.13792079A>C | CA359219154 | DNAH5 | c.8363T>G (p.Phe2788Cys) c.8318T>G (p.Phe2773Cys) n.8570T>G c.8471T>G (p.Phe2824Cys) c.7376T>G (p.Phe2459Cys) c.3560T>G (p.Phe1187Cys) c.3113T>G (p.Phe1038Cys) c.2450T>G (p.Phe817Cys) c.6965T>G (p.Phe2322Cys) n.8488T>G | |
5 | g.13792079A>G | CA359219156 | DNAH5 | c.8363T>C (p.Phe2788Ser) c.8318T>C (p.Phe2773Ser) n.8570T>C c.8471T>C (p.Phe2824Ser) c.7376T>C (p.Phe2459Ser) c.3560T>C (p.Phe1187Ser) c.3113T>C (p.Phe1038Ser) c.2450T>C (p.Phe817Ser) c.6965T>C (p.Phe2322Ser) n.8488T>C | |
5 | g.13792079A>T | CA359219158 | DNAH5 | c.8363T>A (p.Phe2788Tyr) c.8318T>A (p.Phe2773Tyr) n.8570T>A c.8471T>A (p.Phe2824Tyr) c.7376T>A (p.Phe2459Tyr) c.3560T>A (p.Phe1187Tyr) c.3113T>A (p.Phe1038Tyr) c.2450T>A (p.Phe817Tyr) c.6965T>A (p.Phe2322Tyr) n.8488T>A | |
5 | g.13792080A= | CA1528440956 | DNAH5 | c.8362T= (p.Phe2788=) c.8317T= (p.Phe2773=) n.8569T= c.8470T= (p.Phe2824=) c.7375T= (p.Phe2459=) c.3559T= (p.Phe1187=) c.3112T= (p.Phe1038=) c.2449T= (p.Phe817=) c.6964T= (p.Phe2322=) n.8487T= | |
5 | g.13792080A>C | CA359219159 | DNAH5 | c.8362T>G (p.Phe2788Val) c.8317T>G (p.Phe2773Val) n.8569T>G c.8470T>G (p.Phe2824Val) c.7375T>G (p.Phe2459Val) c.3559T>G (p.Phe1187Val) c.3112T>G (p.Phe1038Val) c.2449T>G (p.Phe817Val) c.6964T>G (p.Phe2322Val) n.8487T>G | |
5 | g.13792080A>G | CA359219161 | DNAH5 | c.8362T>C (p.Phe2788Leu) c.8317T>C (p.Phe2773Leu) n.8569T>C c.8470T>C (p.Phe2824Leu) c.7375T>C (p.Phe2459Leu) c.3559T>C (p.Phe1187Leu) c.3112T>C (p.Phe1038Leu) c.2449T>C (p.Phe817Leu) c.6964T>C (p.Phe2322Leu) n.8487T>C | |
5 | g.13792080A>T | CA359219162 | DNAH5 | c.8362T>A (p.Phe2788Ile) c.8317T>A (p.Phe2773Ile) n.8569T>A c.8470T>A (p.Phe2824Ile) c.7375T>A (p.Phe2459Ile) c.3559T>A (p.Phe1187Ile) c.3112T>A (p.Phe1038Ile) c.2449T>A (p.Phe817Ile) c.6964T>A (p.Phe2322Ile) n.8487T>A | dbSNP |
5 | g.13792081T>A | CA359219166 | DNAH5 | c.8361A>T (p.Lys2787Asn) c.8316A>T (p.Lys2772Asn) n.8568A>T c.8469A>T (p.Lys2823Asn) c.7374A>T (p.Lys2458Asn) c.3558A>T (p.Lys1186Asn) c.3111A>T (p.Lys1037Asn) c.2448A>T (p.Lys816Asn) c.6963A>T (p.Lys2321Asn) n.8486A>T | |
5 | g.13792081T>C | CA443263426 | DNAH5 | c.8361A>G (p.Lys2787=) c.8316A>G (p.Lys2772=) n.8568A>G c.8469A>G (p.Lys2823=) c.7374A>G (p.Lys2458=) c.3558A>G (p.Lys1186=) c.3111A>G (p.Lys1037=) c.2448A>G (p.Lys816=) c.6963A>G (p.Lys2321=) n.8486A>G | |
5 | g.13792081T>G | CA359219164 | DNAH5 | c.8361A>C (p.Lys2787Asn) c.8316A>C (p.Lys2772Asn) n.8568A>C c.8469A>C (p.Lys2823Asn) c.7374A>C (p.Lys2458Asn) c.3558A>C (p.Lys1186Asn) c.3111A>C (p.Lys1037Asn) c.2448A>C (p.Lys816Asn) c.6963A>C (p.Lys2321Asn) n.8486A>C | |
5 | g.13792081T= | CA1528440957 | DNAH5 | c.8361A= (p.Lys2787=) c.8316A= (p.Lys2772=) n.8568A= c.8469A= (p.Lys2823=) c.7374A= (p.Lys2458=) c.3558A= (p.Lys1186=) c.3111A= (p.Lys1037=) c.2448A= (p.Lys816=) c.6963A= (p.Lys2321=) n.8486A= | |
5 | g.13792084dup | CA2695204157 | DNAH5 | c.8361dup (p.Phe2788IlefsTer6) c.8316dup (p.Phe2773IlefsTer6) n.8568dup c.8469dup (p.Phe2824IlefsTer6) c.7374dup (p.Phe2459IlefsTer6) c.3558dup (p.Phe1187IlefsTer6) c.3111dup (p.Phe1038IlefsTer6) c.2448dup (p.Phe817IlefsTer6) c.6963dup (p.Phe2322IlefsTer6) n.8486dup | |
5 | g.13792081_13792082insA | CA1139771924 | DNAH5 | c.8360_8361insT (p.Lys2787AsnfsTer7) c.8315_8316insT (p.Lys2772AsnfsTer7) n.8567_8568insT c.8468_8469insT (p.Lys2823AsnfsTer7) c.7373_7374insT (p.Lys2458AsnfsTer7) c.3557_3558insT (p.Lys1186AsnfsTer7) c.3110_3111insT (p.Lys1037AsnfsTer7) c.2447_2448insT (p.Lys816AsnfsTer7) c.6962_6963insT (p.Lys2321AsnfsTer7) n.8485_8486insT | ClinVar dbSNP gnomAD v4 |
5 | g.13792082T>A | CA359219168 | DNAH5 | c.8360A>T (p.Lys2787Ile) c.8315A>T (p.Lys2772Ile) n.8567A>T c.8468A>T (p.Lys2823Ile) c.7373A>T (p.Lys2458Ile) c.3557A>T (p.Lys1186Ile) c.3110A>T (p.Lys1037Ile) c.2447A>T (p.Lys816Ile) c.6962A>T (p.Lys2321Ile) n.8485A>T | |
5 | g.13792082T>C | CA359219169 | DNAH5 | c.8360A>G (p.Lys2787Arg) c.8315A>G (p.Lys2772Arg) n.8567A>G c.8468A>G (p.Lys2823Arg) c.7373A>G (p.Lys2458Arg) c.3557A>G (p.Lys1186Arg) c.3110A>G (p.Lys1037Arg) c.2447A>G (p.Lys816Arg) c.6962A>G (p.Lys2321Arg) n.8485A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13792082T>G | CA359219172 | DNAH5 | c.8360A>C (p.Lys2787Thr) c.8315A>C (p.Lys2772Thr) n.8567A>C c.8468A>C (p.Lys2823Thr) c.7373A>C (p.Lys2458Thr) c.3557A>C (p.Lys1186Thr) c.3110A>C (p.Lys1037Thr) c.2447A>C (p.Lys816Thr) c.6962A>C (p.Lys2321Thr) n.8485A>C | |
5 | g.13792082T= | CA1528440958 | DNAH5 | c.8360A= (p.Lys2787=) c.8315A= (p.Lys2772=) n.8567A= c.8468A= (p.Lys2823=) c.7373A= (p.Lys2458=) c.3557A= (p.Lys1186=) c.3110A= (p.Lys1037=) c.2447A= (p.Lys816=) c.6962A= (p.Lys2321=) n.8485A= | |
5 | g.13792083T>A | CA359219174 | DNAH5 | c.8359A>T (p.Lys2787Ter) c.8314A>T (p.Lys2772Ter) n.8566A>T c.8467A>T (p.Lys2823Ter) c.7372A>T (p.Lys2458Ter) c.3556A>T (p.Lys1186Ter) c.3109A>T (p.Lys1037Ter) c.2446A>T (p.Lys816Ter) c.6961A>T (p.Lys2321Ter) n.8484A>T | |
5 | g.13792083T>C | CA359219176 | DNAH5 | c.8359A>G (p.Lys2787Glu) c.8314A>G (p.Lys2772Glu) n.8566A>G c.8467A>G (p.Lys2823Glu) c.7372A>G (p.Lys2458Glu) c.3556A>G (p.Lys1186Glu) c.3109A>G (p.Lys1037Glu) c.2446A>G (p.Lys816Glu) c.6961A>G (p.Lys2321Glu) n.8484A>G | gnomAD v4 |
5 | g.13792083T>G | CA359219180 | DNAH5 | c.8359A>C (p.Lys2787Gln) c.8314A>C (p.Lys2772Gln) n.8566A>C c.8467A>C (p.Lys2823Gln) c.7372A>C (p.Lys2458Gln) c.3556A>C (p.Lys1186Gln) c.3109A>C (p.Lys1037Gln) c.2446A>C (p.Lys816Gln) c.6961A>C (p.Lys2321Gln) n.8484A>C | COSMIC |
5 | g.13792084T>A | CA443263427 | DNAH5 | c.8358A>T (p.Ala2786=) c.8313A>T (p.Ala2771=) n.8565A>T c.8466A>T (p.Ala2822=) c.7371A>T (p.Ala2457=) c.3555A>T (p.Ala1185=) c.3108A>T (p.Ala1036=) c.2445A>T (p.Ala815=) c.6960A>T (p.Ala2320=) n.8483A>T | |
5 | g.13792084T>C | CA443263428 | DNAH5 | c.8358A>G (p.Ala2786=) c.8313A>G (p.Ala2771=) n.8565A>G c.8466A>G (p.Ala2822=) c.7371A>G (p.Ala2457=) c.3555A>G (p.Ala1185=) c.3108A>G (p.Ala1036=) c.2445A>G (p.Ala815=) c.6960A>G (p.Ala2320=) n.8483A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792084T>G | CA443263429 | DNAH5 | c.8358A>C (p.Ala2786=) c.8313A>C (p.Ala2771=) n.8565A>C c.8466A>C (p.Ala2822=) c.7371A>C (p.Ala2457=) c.3555A>C (p.Ala1185=) c.3108A>C (p.Ala1036=) c.2445A>C (p.Ala815=) c.6960A>C (p.Ala2320=) n.8483A>C | |
5 | g.13792084T= | CA1528440959 | DNAH5 | c.8358A= (p.Ala2786=) c.8313A= (p.Ala2771=) n.8565A= c.8466A= (p.Ala2822=) c.7371A= (p.Ala2457=) c.3555A= (p.Ala1185=) c.3108A= (p.Ala1036=) c.2445A= (p.Ala815=) c.6960A= (p.Ala2320=) n.8483A= | |
5 | g.13792085G>A | CA359219186 | DNAH5 | c.8357C>T (p.Ala2786Val) c.8312C>T (p.Ala2771Val) n.8564C>T c.8465C>T (p.Ala2822Val) c.7370C>T (p.Ala2457Val) c.3554C>T (p.Ala1185Val) c.3107C>T (p.Ala1036Val) c.2444C>T (p.Ala815Val) c.6959C>T (p.Ala2320Val) n.8482C>T | |
5 | g.13792085G>C | CA359219183 | DNAH5 | c.8357C>G (p.Ala2786Gly) c.8312C>G (p.Ala2771Gly) n.8564C>G c.8465C>G (p.Ala2822Gly) c.7370C>G (p.Ala2457Gly) c.3554C>G (p.Ala1185Gly) c.3107C>G (p.Ala1036Gly) c.2444C>G (p.Ala815Gly) c.6959C>G (p.Ala2320Gly) n.8482C>G | COSMIC |
5 | g.13792085G>T | CA359219185 | DNAH5 | c.8357C>A (p.Ala2786Glu) c.8312C>A (p.Ala2771Glu) n.8564C>A c.8465C>A (p.Ala2822Glu) c.7370C>A (p.Ala2457Glu) c.3554C>A (p.Ala1185Glu) c.3107C>A (p.Ala1036Glu) c.2444C>A (p.Ala815Glu) c.6959C>A (p.Ala2320Glu) n.8482C>A | |
5 | g.13792086C>A | CA359219187 | DNAH5 | c.8356G>T (p.Ala2786Ser) c.8311G>T (p.Ala2771Ser) n.8563G>T c.8464G>T (p.Ala2822Ser) c.7369G>T (p.Ala2457Ser) c.3553G>T (p.Ala1185Ser) c.3106G>T (p.Ala1036Ser) c.2443G>T (p.Ala815Ser) c.6958G>T (p.Ala2320Ser) n.8481G>T | |
5 | g.13792086C>G | CA359219189 | DNAH5 | c.8356G>C (p.Ala2786Pro) c.8311G>C (p.Ala2771Pro) n.8563G>C c.8464G>C (p.Ala2822Pro) c.7369G>C (p.Ala2457Pro) c.3553G>C (p.Ala1185Pro) c.3106G>C (p.Ala1036Pro) c.2443G>C (p.Ala815Pro) c.6958G>C (p.Ala2320Pro) n.8481G>C | |
5 | g.13792086C>T | CA359219192 | DNAH5 | c.8356G>A (p.Ala2786Thr) c.8311G>A (p.Ala2771Thr) n.8563G>A c.8464G>A (p.Ala2822Thr) c.7369G>A (p.Ala2457Thr) c.3553G>A (p.Ala1185Thr) c.3106G>A (p.Ala1036Thr) c.2443G>A (p.Ala815Thr) c.6958G>A (p.Ala2320Thr) n.8481G>A | |
5 | g.13792087A= | CA1528440960 | DNAH5 | c.8355T= (p.Pro2785=) c.8310T= (p.Pro2770=) n.8562T= c.8463T= (p.Pro2821=) c.7368T= (p.Pro2456=) c.3552T= (p.Pro1184=) c.3105T= (p.Pro1035=) c.2442T= (p.Pro814=) c.6957T= (p.Pro2319=) n.8480T= | |
5 | g.13792087A>C | CA443263432 | DNAH5 | c.8355T>G (p.Pro2785=) c.8310T>G (p.Pro2770=) n.8562T>G c.8463T>G (p.Pro2821=) c.7368T>G (p.Pro2456=) c.3552T>G (p.Pro1184=) c.3105T>G (p.Pro1035=) c.2442T>G (p.Pro814=) c.6957T>G (p.Pro2319=) n.8480T>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792087A>G | CA443263431 | DNAH5 | c.8355T>C (p.Pro2785=) c.8310T>C (p.Pro2770=) n.8562T>C c.8463T>C (p.Pro2821=) c.7368T>C (p.Pro2456=) c.3552T>C (p.Pro1184=) c.3105T>C (p.Pro1035=) c.2442T>C (p.Pro814=) c.6957T>C (p.Pro2319=) n.8480T>C | |
5 | g.13792087A>T | CA443263430 | DNAH5 | c.8355T>A (p.Pro2785=) c.8310T>A (p.Pro2770=) n.8562T>A c.8463T>A (p.Pro2821=) c.7368T>A (p.Pro2456=) c.3552T>A (p.Pro1184=) c.3105T>A (p.Pro1035=) c.2442T>A (p.Pro814=) c.6957T>A (p.Pro2319=) n.8480T>A | gnomAD v4 |
5 | g.13792088G>A | CA359219193 | DNAH5 | c.8354C>T (p.Pro2785Leu) c.8309C>T (p.Pro2770Leu) n.8561C>T c.8462C>T (p.Pro2821Leu) c.7367C>T (p.Pro2456Leu) c.3551C>T (p.Pro1184Leu) c.3104C>T (p.Pro1035Leu) c.2441C>T (p.Pro814Leu) c.6956C>T (p.Pro2319Leu) n.8479C>T | |
5 | g.13792088G>C | CA359219195 | DNAH5 | c.8354C>G (p.Pro2785Arg) c.8309C>G (p.Pro2770Arg) n.8561C>G c.8462C>G (p.Pro2821Arg) c.7367C>G (p.Pro2456Arg) c.3551C>G (p.Pro1184Arg) c.3104C>G (p.Pro1035Arg) c.2441C>G (p.Pro814Arg) c.6956C>G (p.Pro2319Arg) n.8479C>G | |
5 | g.13792088G>T | CA359219197 | DNAH5 | c.8354C>A (p.Pro2785His) c.8309C>A (p.Pro2770His) n.8561C>A c.8462C>A (p.Pro2821His) c.7367C>A (p.Pro2456His) c.3551C>A (p.Pro1184His) c.3104C>A (p.Pro1035His) c.2441C>A (p.Pro814His) c.6956C>A (p.Pro2319His) n.8479C>A | |
5 | g.13792089G>A | CA359219200 | DNAH5 | c.8353C>T (p.Pro2785Ser) c.8308C>T (p.Pro2770Ser) n.8560C>T c.8461C>T (p.Pro2821Ser) c.7366C>T (p.Pro2456Ser) c.3550C>T (p.Pro1184Ser) c.3103C>T (p.Pro1035Ser) c.2440C>T (p.Pro814Ser) c.6955C>T (p.Pro2319Ser) n.8478C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792089G>C | CA359219202 | DNAH5 | c.8353C>G (p.Pro2785Ala) c.8308C>G (p.Pro2770Ala) n.8560C>G c.8461C>G (p.Pro2821Ala) c.7366C>G (p.Pro2456Ala) c.3550C>G (p.Pro1184Ala) c.3103C>G (p.Pro1035Ala) c.2440C>G (p.Pro814Ala) c.6955C>G (p.Pro2319Ala) n.8478C>G | |
5 | g.13792089G= | CA1528440961 | DNAH5 | c.8353C= (p.Pro2785=) c.8308C= (p.Pro2770=) n.8560C= c.8461C= (p.Pro2821=) c.7366C= (p.Pro2456=) c.3550C= (p.Pro1184=) c.3103C= (p.Pro1035=) c.2440C= (p.Pro814=) c.6955C= (p.Pro2319=) n.8478C= | |
5 | g.13792089G>T | CA359219203 | DNAH5 | c.8353C>A (p.Pro2785Thr) c.8308C>A (p.Pro2770Thr) n.8560C>A c.8461C>A (p.Pro2821Thr) c.7366C>A (p.Pro2456Thr) c.3550C>A (p.Pro1184Thr) c.3103C>A (p.Pro1035Thr) c.2440C>A (p.Pro814Thr) c.6955C>A (p.Pro2319Thr) n.8478C>A | |
5 | g.13792090G>A | CA443263433 | DNAH5 | c.8352C>T (p.Thr2784=) c.8307C>T (p.Thr2769=) n.8559C>T c.8460C>T (p.Thr2820=) c.7365C>T (p.Thr2455=) c.3549C>T (p.Thr1183=) c.3102C>T (p.Thr1034=) c.2439C>T (p.Thr813=) c.6954C>T (p.Thr2318=) n.8477C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13792090G>C | CA443263434 | DNAH5 | c.8352C>G (p.Thr2784=) c.8307C>G (p.Thr2769=) n.8559C>G c.8460C>G (p.Thr2820=) c.7365C>G (p.Thr2455=) c.3549C>G (p.Thr1183=) c.3102C>G (p.Thr1034=) c.2439C>G (p.Thr813=) c.6954C>G (p.Thr2318=) n.8477C>G | |
5 | g.13792090G= | CA1528440962 | DNAH5 | c.8352C= (p.Thr2784=) c.8307C= (p.Thr2769=) n.8559C= c.8460C= (p.Thr2820=) c.7365C= (p.Thr2455=) c.3549C= (p.Thr1183=) c.3102C= (p.Thr1034=) c.2439C= (p.Thr813=) c.6954C= (p.Thr2318=) n.8477C= | |
5 | g.13792090G>T | CA443263435 | DNAH5 | c.8352C>A (p.Thr2784=) c.8307C>A (p.Thr2769=) n.8559C>A c.8460C>A (p.Thr2820=) c.7365C>A (p.Thr2455=) c.3549C>A (p.Thr1183=) c.3102C>A (p.Thr1034=) c.2439C>A (p.Thr813=) c.6954C>A (p.Thr2318=) n.8477C>A | |
5 | g.13792091G>A | CA359219205 | DNAH5 | c.8351C>T (p.Thr2784Ile) c.8306C>T (p.Thr2769Ile) n.8558C>T c.8459C>T (p.Thr2820Ile) c.7364C>T (p.Thr2455Ile) c.3548C>T (p.Thr1183Ile) c.3101C>T (p.Thr1034Ile) c.2438C>T (p.Thr813Ile) c.6953C>T (p.Thr2318Ile) n.8476C>T | dbSNP COSMIC |
5 | g.13792091G>C | CA359219207 | DNAH5 | c.8351C>G (p.Thr2784Ser) c.8306C>G (p.Thr2769Ser) n.8558C>G c.8459C>G (p.Thr2820Ser) c.7364C>G (p.Thr2455Ser) c.3548C>G (p.Thr1183Ser) c.3101C>G (p.Thr1034Ser) c.2438C>G (p.Thr813Ser) c.6953C>G (p.Thr2318Ser) n.8476C>G | |
5 | g.13792091G= | CA1528440963 | DNAH5 | c.8351C= (p.Thr2784=) c.8306C= (p.Thr2769=) n.8558C= c.8459C= (p.Thr2820=) c.7364C= (p.Thr2455=) c.3548C= (p.Thr1183=) c.3101C= (p.Thr1034=) c.2438C= (p.Thr813=) c.6953C= (p.Thr2318=) n.8476C= | |
5 | g.13792091G>T | CA359219208 | DNAH5 | c.8351C>A (p.Thr2784Asn) c.8306C>A (p.Thr2769Asn) n.8558C>A c.8459C>A (p.Thr2820Asn) c.7364C>A (p.Thr2455Asn) c.3548C>A (p.Thr1183Asn) c.3101C>A (p.Thr1034Asn) c.2438C>A (p.Thr813Asn) c.6953C>A (p.Thr2318Asn) n.8476C>A | |
5 | g.13792092T>A | CA359219210 | DNAH5 | c.8350A>T (p.Thr2784Ser) c.8305A>T (p.Thr2769Ser) n.8557A>T c.8458A>T (p.Thr2820Ser) c.7363A>T (p.Thr2455Ser) c.3547A>T (p.Thr1183Ser) c.3100A>T (p.Thr1034Ser) c.2437A>T (p.Thr813Ser) c.6952A>T (p.Thr2318Ser) n.8475A>T | |
5 | g.13792092T>C | CA359219213 | DNAH5 | c.8350A>G (p.Thr2784Ala) c.8305A>G (p.Thr2769Ala) n.8557A>G c.8458A>G (p.Thr2820Ala) c.7363A>G (p.Thr2455Ala) c.3547A>G (p.Thr1183Ala) c.3100A>G (p.Thr1034Ala) c.2437A>G (p.Thr813Ala) c.6952A>G (p.Thr2318Ala) n.8475A>G | dbSNP gnomAD v4 |
5 | g.13792092T>G | CA359219212 | DNAH5 | c.8350A>C (p.Thr2784Pro) c.8305A>C (p.Thr2769Pro) n.8557A>C c.8458A>C (p.Thr2820Pro) c.7363A>C (p.Thr2455Pro) c.3547A>C (p.Thr1183Pro) c.3100A>C (p.Thr1034Pro) c.2437A>C (p.Thr813Pro) c.6952A>C (p.Thr2318Pro) n.8475A>C | |
5 | g.13792092T= | CA1528440964 | DNAH5 | c.8350A= (p.Thr2784=) c.8305A= (p.Thr2769=) n.8557A= c.8458A= (p.Thr2820=) c.7363A= (p.Thr2455=) c.3547A= (p.Thr1183=) c.3100A= (p.Thr1034=) c.2437A= (p.Thr813=) c.6952A= (p.Thr2318=) n.8475A= | |
5 | g.13792093A>C | CA443263437 | DNAH5 | c.8349T>G (p.Pro2783=) c.8304T>G (p.Pro2768=) n.8556T>G c.8457T>G (p.Pro2819=) c.7362T>G (p.Pro2454=) c.3546T>G (p.Pro1182=) c.3099T>G (p.Pro1033=) c.2436T>G (p.Pro812=) c.6951T>G (p.Pro2317=) n.8474T>G | |
5 | g.13792093A>G | CA443263438 | DNAH5 | c.8349T>C (p.Pro2783=) c.8304T>C (p.Pro2768=) n.8556T>C c.8457T>C (p.Pro2819=) c.7362T>C (p.Pro2454=) c.3546T>C (p.Pro1182=) c.3099T>C (p.Pro1033=) c.2436T>C (p.Pro812=) c.6951T>C (p.Pro2317=) n.8474T>C | gnomAD v4 |
5 | g.13792093A>T | CA443263439 | DNAH5 | c.8349T>A (p.Pro2783=) c.8304T>A (p.Pro2768=) n.8556T>A c.8457T>A (p.Pro2819=) c.7362T>A (p.Pro2454=) c.3546T>A (p.Pro1182=) c.3099T>A (p.Pro1033=) c.2436T>A (p.Pro812=) c.6951T>A (p.Pro2317=) n.8474T>A | |
5 | g.13792094G>A | CA359219215 | DNAH5 | c.8348C>T (p.Pro2783Leu) c.8303C>T (p.Pro2768Leu) n.8555C>T c.8456C>T (p.Pro2819Leu) c.7361C>T (p.Pro2454Leu) c.3545C>T (p.Pro1182Leu) c.3098C>T (p.Pro1033Leu) c.2435C>T (p.Pro812Leu) c.6950C>T (p.Pro2317Leu) n.8473C>T | gnomAD v4 |
5 | g.13792094G>C | CA359219217 | DNAH5 | c.8348C>G (p.Pro2783Arg) c.8303C>G (p.Pro2768Arg) n.8555C>G c.8456C>G (p.Pro2819Arg) c.7361C>G (p.Pro2454Arg) c.3545C>G (p.Pro1182Arg) c.3098C>G (p.Pro1033Arg) c.2435C>G (p.Pro812Arg) c.6950C>G (p.Pro2317Arg) n.8473C>G | dbSNP gnomAD v4 |
5 | g.13792094G= | CA1528440965 | DNAH5 | c.8348C= (p.Pro2783=) c.8303C= (p.Pro2768=) n.8555C= c.8456C= (p.Pro2819=) c.7361C= (p.Pro2454=) c.3545C= (p.Pro1182=) c.3098C= (p.Pro1033=) c.2435C= (p.Pro812=) c.6950C= (p.Pro2317=) n.8473C= | |
5 | g.13792094G>T | CA359219219 | DNAH5 | c.8348C>A (p.Pro2783His) c.8303C>A (p.Pro2768His) n.8555C>A c.8456C>A (p.Pro2819His) c.7361C>A (p.Pro2454His) c.3545C>A (p.Pro1182His) c.3098C>A (p.Pro1033His) c.2435C>A (p.Pro812His) c.6950C>A (p.Pro2317His) n.8473C>A | |
5 | g.13792095G>A | CA359219220 | DNAH5 | c.8347C>T (p.Pro2783Ser) c.8302C>T (p.Pro2768Ser) n.8554C>T c.8455C>T (p.Pro2819Ser) c.7360C>T (p.Pro2454Ser) c.3544C>T (p.Pro1182Ser) c.3097C>T (p.Pro1033Ser) c.2434C>T (p.Pro812Ser) c.6949C>T (p.Pro2317Ser) n.8472C>T | gnomAD v4 |
5 | g.13792095G>C | CA113960110 | DNAH5 | c.8347C>G (p.Pro2783Ala) c.8302C>G (p.Pro2768Ala) n.8554C>G c.8455C>G (p.Pro2819Ala) c.7360C>G (p.Pro2454Ala) c.3544C>G (p.Pro1182Ala) c.3097C>G (p.Pro1033Ala) c.2434C>G (p.Pro812Ala) c.6949C>G (p.Pro2317Ala) n.8472C>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792095G= | CA1528440966 | DNAH5 | c.8347C= (p.Pro2783=) c.8302C= (p.Pro2768=) n.8554C= c.8455C= (p.Pro2819=) c.7360C= (p.Pro2454=) c.3544C= (p.Pro1182=) c.3097C= (p.Pro1033=) c.2434C= (p.Pro812=) c.6949C= (p.Pro2317=) n.8472C= | |
5 | g.13792095G>T | CA359219221 | DNAH5 | c.8347C>A (p.Pro2783Thr) c.8302C>A (p.Pro2768Thr) n.8554C>A c.8455C>A (p.Pro2819Thr) c.7360C>A (p.Pro2454Thr) c.3544C>A (p.Pro1182Thr) c.3097C>A (p.Pro1033Thr) c.2434C>A (p.Pro812Thr) c.6949C>A (p.Pro2317Thr) n.8472C>A | |
5 | g.13792096A>C | CA443263440 | DNAH5 | c.8346T>G (p.Leu2782=) c.8301T>G (p.Leu2767=) n.8553T>G c.8454T>G (p.Leu2818=) c.7359T>G (p.Leu2453=) c.3543T>G (p.Leu1181=) c.3096T>G (p.Leu1032=) c.2433T>G (p.Leu811=) c.6948T>G (p.Leu2316=) n.8471T>G | |
5 | g.13792096A>G | CA443263441 | DNAH5 | c.8346T>C (p.Leu2782=) c.8301T>C (p.Leu2767=) n.8553T>C c.8454T>C (p.Leu2818=) c.7359T>C (p.Leu2453=) c.3543T>C (p.Leu1181=) c.3096T>C (p.Leu1032=) c.2433T>C (p.Leu811=) c.6948T>C (p.Leu2316=) n.8471T>C | |
5 | g.13792096A>T | CA443263442 | DNAH5 | c.8346T>A (p.Leu2782=) c.8301T>A (p.Leu2767=) n.8553T>A c.8454T>A (p.Leu2818=) c.7359T>A (p.Leu2453=) c.3543T>A (p.Leu1181=) c.3096T>A (p.Leu1032=) c.2433T>A (p.Leu811=) c.6948T>A (p.Leu2316=) n.8471T>A | |
5 | g.13792097A>C | CA359219222 | DNAH5 | c.8345T>G (p.Leu2782Arg) c.8300T>G (p.Leu2767Arg) n.8552T>G c.8453T>G (p.Leu2818Arg) c.7358T>G (p.Leu2453Arg) c.3542T>G (p.Leu1181Arg) c.3095T>G (p.Leu1032Arg) c.2432T>G (p.Leu811Arg) c.6947T>G (p.Leu2316Arg) n.8470T>G | |
5 | g.13792097A>G | CA359219224 | DNAH5 | c.8345T>C (p.Leu2782Pro) c.8300T>C (p.Leu2767Pro) n.8552T>C c.8453T>C (p.Leu2818Pro) c.7358T>C (p.Leu2453Pro) c.3542T>C (p.Leu1181Pro) c.3095T>C (p.Leu1032Pro) c.2432T>C (p.Leu811Pro) c.6947T>C (p.Leu2316Pro) n.8470T>C | gnomAD v4 |
5 | g.13792097A>T | CA359219226 | DNAH5 | c.8345T>A (p.Leu2782His) c.8300T>A (p.Leu2767His) n.8552T>A c.8453T>A (p.Leu2818His) c.7358T>A (p.Leu2453His) c.3542T>A (p.Leu1181His) c.3095T>A (p.Leu1032His) c.2432T>A (p.Leu811His) c.6947T>A (p.Leu2316His) n.8470T>A | |
5 | g.13792098G>A | CA359219228 | DNAH5 | c.8344C>T (p.Leu2782Phe) c.8299C>T (p.Leu2767Phe) n.8551C>T c.8452C>T (p.Leu2818Phe) c.7357C>T (p.Leu2453Phe) c.3541C>T (p.Leu1181Phe) c.3094C>T (p.Leu1032Phe) c.2431C>T (p.Leu811Phe) c.6946C>T (p.Leu2316Phe) n.8469C>T | dbSNP gnomAD v4 |
5 | g.13792098G>C | CA359219230 | DNAH5 | c.8344C>G (p.Leu2782Val) c.8299C>G (p.Leu2767Val) n.8551C>G c.8452C>G (p.Leu2818Val) c.7357C>G (p.Leu2453Val) c.3541C>G (p.Leu1181Val) c.3094C>G (p.Leu1032Val) c.2431C>G (p.Leu811Val) c.6946C>G (p.Leu2316Val) n.8469C>G | |
5 | g.13792098G= | CA1528440967 | DNAH5 | c.8344C= (p.Leu2782=) c.8299C= (p.Leu2767=) n.8551C= c.8452C= (p.Leu2818=) c.7357C= (p.Leu2453=) c.3541C= (p.Leu1181=) c.3094C= (p.Leu1032=) c.2431C= (p.Leu811=) c.6946C= (p.Leu2316=) n.8469C= | |
5 | g.13792098G>T | CA359219232 | DNAH5 | c.8344C>A (p.Leu2782Ile) c.8299C>A (p.Leu2767Ile) n.8551C>A c.8452C>A (p.Leu2818Ile) c.7357C>A (p.Leu2453Ile) c.3541C>A (p.Leu1181Ile) c.3094C>A (p.Leu1032Ile) c.2431C>A (p.Leu811Ile) c.6946C>A (p.Leu2316Ile) n.8469C>A | |
5 | g.13792099C>A | CA359219237 | DNAH5 | c.8343G>T (p.Met2781Ile) c.8298G>T (p.Met2766Ile) n.8550G>T c.8451G>T (p.Met2817Ile) c.7356G>T (p.Met2452Ile) c.3540G>T (p.Met1180Ile) c.3093G>T (p.Met1031Ile) c.2430G>T (p.Met810Ile) c.6945G>T (p.Met2315Ile) n.8468G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792099C= | CA1528440968 | DNAH5 | c.8343G= (p.Met2781=) c.8298G= (p.Met2766=) n.8550G= c.8451G= (p.Met2817=) c.7356G= (p.Met2452=) c.3540G= (p.Met1180=) c.3093G= (p.Met1031=) c.2430G= (p.Met810=) c.6945G= (p.Met2315=) n.8468G= | |
5 | g.13792099C>G | CA3202838 | DNAH5 | c.8343G>C (p.Met2781Ile) c.8298G>C (p.Met2766Ile) n.8550G>C c.8451G>C (p.Met2817Ile) c.7356G>C (p.Met2452Ile) c.3540G>C (p.Met1180Ile) c.3093G>C (p.Met1031Ile) c.2430G>C (p.Met810Ile) c.6945G>C (p.Met2315Ile) n.8468G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13792099C>T | CA359219235 | DNAH5 | c.8343G>A (p.Met2781Ile) c.8298G>A (p.Met2766Ile) n.8550G>A c.8451G>A (p.Met2817Ile) c.7356G>A (p.Met2452Ile) c.3540G>A (p.Met1180Ile) c.3093G>A (p.Met1031Ile) c.2430G>A (p.Met810Ile) c.6945G>A (p.Met2315Ile) n.8468G>A | |
5 | g.13792100A>C | CA359219239 | DNAH5 | c.8342T>G (p.Met2781Arg) c.8297T>G (p.Met2766Arg) n.8549T>G c.8450T>G (p.Met2817Arg) c.7355T>G (p.Met2452Arg) c.3539T>G (p.Met1180Arg) c.3092T>G (p.Met1031Arg) c.2429T>G (p.Met810Arg) c.6944T>G (p.Met2315Arg) n.8467T>G | |
5 | g.13792100A>G | CA359219241 | DNAH5 | c.8342T>C (p.Met2781Thr) c.8297T>C (p.Met2766Thr) n.8549T>C c.8450T>C (p.Met2817Thr) c.7355T>C (p.Met2452Thr) c.3539T>C (p.Met1180Thr) c.3092T>C (p.Met1031Thr) c.2429T>C (p.Met810Thr) c.6944T>C (p.Met2315Thr) n.8467T>C | |
5 | g.13792100A>T | CA359219243 | DNAH5 | c.8342T>A (p.Met2781Lys) c.8297T>A (p.Met2766Lys) n.8549T>A c.8450T>A (p.Met2817Lys) c.7355T>A (p.Met2452Lys) c.3539T>A (p.Met1180Lys) c.3092T>A (p.Met1031Lys) c.2429T>A (p.Met810Lys) c.6944T>A (p.Met2315Lys) n.8467T>A | |
5 | g.13792101T>A | CA359219244 | DNAH5 | c.8341A>T (p.Met2781Leu) c.8296A>T (p.Met2766Leu) n.8548A>T c.8449A>T (p.Met2817Leu) c.7354A>T (p.Met2452Leu) c.3538A>T (p.Met1180Leu) c.3091A>T (p.Met1031Leu) c.2428A>T (p.Met810Leu) c.6943A>T (p.Met2315Leu) n.8466A>T | |
5 | g.13792101T>C | CA359219245 | DNAH5 | c.8341A>G (p.Met2781Val) c.8296A>G (p.Met2766Val) n.8548A>G c.8449A>G (p.Met2817Val) c.7354A>G (p.Met2452Val) c.3538A>G (p.Met1180Val) c.3091A>G (p.Met1031Val) c.2428A>G (p.Met810Val) c.6943A>G (p.Met2315Val) n.8466A>G | |
5 | g.13792101T>G | CA359219247 | DNAH5 | c.8341A>C (p.Met2781Leu) c.8296A>C (p.Met2766Leu) n.8548A>C c.8449A>C (p.Met2817Leu) c.7354A>C (p.Met2452Leu) c.3538A>C (p.Met1180Leu) c.3091A>C (p.Met1031Leu) c.2428A>C (p.Met810Leu) c.6943A>C (p.Met2315Leu) n.8466A>C | |
5 | g.13792104del | CA2739274579 | DNAH5 | c.8341del (p.Met2781CysfsTer25) c.8296del (p.Met2766CysfsTer25) n.8548del c.8449del (p.Met2817CysfsTer25) c.7354del (p.Met2452CysfsTer25) c.3538del (p.Met1180CysfsTer25) c.3091del (p.Met1031CysfsTer25) c.2428del (p.Met810CysfsTer25) c.6943del (p.Met2315CysfsTer25) n.8466del | ClinVar |
5 | g.13792103_13792104del | CA2580072137 | DNAH5 | c.8340_8341del (p.Lys2780AsnfsTer13) c.8295_8296del (p.Lys2765AsnfsTer13) n.8547_8548del c.8448_8449del (p.Lys2816AsnfsTer13) c.7353_7354del (p.Lys2451AsnfsTer13) c.3537_3538del (p.Lys1179AsnfsTer13) c.3090_3091del (p.Lys1030AsnfsTer13) c.2427_2428del (p.Lys809AsnfsTer13) c.6942_6943del (p.Lys2314AsnfsTer13) n.8465_8466del | ClinVar |
5 | g.13792102T>A | CA359219248 | DNAH5 | c.8340A>T (p.Lys2780Asn) c.8295A>T (p.Lys2765Asn) n.8547A>T c.8448A>T (p.Lys2816Asn) c.7353A>T (p.Lys2451Asn) c.3537A>T (p.Lys1179Asn) c.3090A>T (p.Lys1030Asn) c.2427A>T (p.Lys809Asn) c.6942A>T (p.Lys2314Asn) n.8465A>T | COSMIC |
5 | g.13792102T>C | CA443263443 | DNAH5 | c.8340A>G (p.Lys2780=) c.8295A>G (p.Lys2765=) n.8547A>G c.8448A>G (p.Lys2816=) c.7353A>G (p.Lys2451=) c.3537A>G (p.Lys1179=) c.3090A>G (p.Lys1030=) c.2427A>G (p.Lys809=) c.6942A>G (p.Lys2314=) n.8465A>G | |
5 | g.13792102T>G | CA359219249 | DNAH5 | c.8340A>C (p.Lys2780Asn) c.8295A>C (p.Lys2765Asn) n.8547A>C c.8448A>C (p.Lys2816Asn) c.7353A>C (p.Lys2451Asn) c.3537A>C (p.Lys1179Asn) c.3090A>C (p.Lys1030Asn) c.2427A>C (p.Lys809Asn) c.6942A>C (p.Lys2314Asn) n.8465A>C | |
5 | g.13792103T>A | CA359219251 | DNAH5 | c.8339A>T (p.Lys2780Ile) c.8294A>T (p.Lys2765Ile) n.8546A>T c.8447A>T (p.Lys2816Ile) c.7352A>T (p.Lys2451Ile) c.3536A>T (p.Lys1179Ile) c.3089A>T (p.Lys1030Ile) c.2426A>T (p.Lys809Ile) c.6941A>T (p.Lys2314Ile) n.8464A>T | |
5 | g.13792103T>C | CA359219253 | DNAH5 | c.8339A>G (p.Lys2780Arg) c.8294A>G (p.Lys2765Arg) n.8546A>G c.8447A>G (p.Lys2816Arg) c.7352A>G (p.Lys2451Arg) c.3536A>G (p.Lys1179Arg) c.3089A>G (p.Lys1030Arg) c.2426A>G (p.Lys809Arg) c.6941A>G (p.Lys2314Arg) n.8464A>G | |
5 | g.13792103T>G | CA359219254 | DNAH5 | c.8339A>C (p.Lys2780Thr) c.8294A>C (p.Lys2765Thr) n.8546A>C c.8447A>C (p.Lys2816Thr) c.7352A>C (p.Lys2451Thr) c.3536A>C (p.Lys1179Thr) c.3089A>C (p.Lys1030Thr) c.2426A>C (p.Lys809Thr) c.6941A>C (p.Lys2314Thr) n.8464A>C | |
5 | g.13792104T>A | CA359219259 | DNAH5 | c.8338A>T (p.Lys2780Ter) c.8293A>T (p.Lys2765Ter) n.8545A>T c.8446A>T (p.Lys2816Ter) c.7351A>T (p.Lys2451Ter) c.3535A>T (p.Lys1179Ter) c.3088A>T (p.Lys1030Ter) c.2425A>T (p.Lys809Ter) c.6940A>T (p.Lys2314Ter) n.8463A>T | |
5 | g.13792104T>C | CA359219257 | DNAH5 | c.8338A>G (p.Lys2780Glu) c.8293A>G (p.Lys2765Glu) n.8545A>G c.8446A>G (p.Lys2816Glu) c.7351A>G (p.Lys2451Glu) c.3535A>G (p.Lys1179Glu) c.3088A>G (p.Lys1030Glu) c.2425A>G (p.Lys809Glu) c.6940A>G (p.Lys2314Glu) n.8463A>G | gnomAD v4 |
5 | g.13792104T>G | CA359219256 | DNAH5 | c.8338A>C (p.Lys2780Gln) c.8293A>C (p.Lys2765Gln) n.8545A>C c.8446A>C (p.Lys2816Gln) c.7351A>C (p.Lys2451Gln) c.3535A>C (p.Lys1179Gln) c.3088A>C (p.Lys1030Gln) c.2425A>C (p.Lys809Gln) c.6940A>C (p.Lys2314Gln) n.8463A>C | |
5 | g.13792105A>C | CA359219261 | DNAH5 | c.8337T>G (p.Ile2779Met) c.8292T>G (p.Ile2764Met) n.8544T>G c.8445T>G (p.Ile2815Met) c.7350T>G (p.Ile2450Met) c.3534T>G (p.Ile1178Met) c.3087T>G (p.Ile1029Met) c.2424T>G (p.Ile808Met) c.6939T>G (p.Ile2313Met) n.8462T>G | |
5 | g.13792105A>G | CA443263444 | DNAH5 | c.8337T>C (p.Ile2779=) c.8292T>C (p.Ile2764=) n.8544T>C c.8445T>C (p.Ile2815=) c.7350T>C (p.Ile2450=) c.3534T>C (p.Ile1178=) c.3087T>C (p.Ile1029=) c.2424T>C (p.Ile808=) c.6939T>C (p.Ile2313=) n.8462T>C | |
5 | g.13792105A>T | CA443263445 | DNAH5 | c.8337T>A (p.Ile2779=) c.8292T>A (p.Ile2764=) n.8544T>A c.8445T>A (p.Ile2815=) c.7350T>A (p.Ile2450=) c.3534T>A (p.Ile1178=) c.3087T>A (p.Ile1029=) c.2424T>A (p.Ile808=) c.6939T>A (p.Ile2313=) n.8462T>A | |
5 | g.13792106A>C | CA359219265 | DNAH5 | c.8336T>G (p.Ile2779Ser) c.8291T>G (p.Ile2764Ser) n.8543T>G c.8444T>G (p.Ile2815Ser) c.7349T>G (p.Ile2450Ser) c.3533T>G (p.Ile1178Ser) c.3086T>G (p.Ile1029Ser) c.2423T>G (p.Ile808Ser) c.6938T>G (p.Ile2313Ser) n.8461T>G | |
5 | g.13792106A>G | CA359219263 | DNAH5 | c.8336T>C (p.Ile2779Thr) c.8291T>C (p.Ile2764Thr) n.8543T>C c.8444T>C (p.Ile2815Thr) c.7349T>C (p.Ile2450Thr) c.3533T>C (p.Ile1178Thr) c.3086T>C (p.Ile1029Thr) c.2423T>C (p.Ile808Thr) c.6938T>C (p.Ile2313Thr) n.8461T>C | |
5 | g.13792106A>T | CA359219267 | DNAH5 | c.8336T>A (p.Ile2779Asn) c.8291T>A (p.Ile2764Asn) n.8543T>A c.8444T>A (p.Ile2815Asn) c.7349T>A (p.Ile2450Asn) c.3533T>A (p.Ile1178Asn) c.3086T>A (p.Ile1029Asn) c.2423T>A (p.Ile808Asn) c.6938T>A (p.Ile2313Asn) n.8461T>A | COSMIC |