Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
5 | g.13792107T>A | CA359219269 | DNAH5 | c.8335A>T (p.Ile2779Phe) c.8290A>T (p.Ile2764Phe) n.8542A>T c.8443A>T (p.Ile2815Phe) c.7348A>T (p.Ile2450Phe) c.3532A>T (p.Ile1178Phe) c.3085A>T (p.Ile1029Phe) c.2422A>T (p.Ile808Phe) c.6937A>T (p.Ile2313Phe) n.8460A>T | |
5 | g.13792107T>C | CA359219271 | DNAH5 | c.8335A>G (p.Ile2779Val) c.8290A>G (p.Ile2764Val) n.8542A>G c.8443A>G (p.Ile2815Val) c.7348A>G (p.Ile2450Val) c.3532A>G (p.Ile1178Val) c.3085A>G (p.Ile1029Val) c.2422A>G (p.Ile808Val) c.6937A>G (p.Ile2313Val) n.8460A>G | |
5 | g.13792107T>G | CA113960132 | DNAH5 | c.8335A>C (p.Ile2779Leu) c.8290A>C (p.Ile2764Leu) n.8542A>C c.8443A>C (p.Ile2815Leu) c.7348A>C (p.Ile2450Leu) c.3532A>C (p.Ile1178Leu) c.3085A>C (p.Ile1029Leu) c.2422A>C (p.Ile808Leu) c.6937A>C (p.Ile2313Leu) n.8460A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792107T= | CA1528440969 | DNAH5 | c.8335A= (p.Ile2779=) c.8290A= (p.Ile2764=) n.8542A= c.8443A= (p.Ile2815=) c.7348A= (p.Ile2450=) c.3532A= (p.Ile1178=) c.3085A= (p.Ile1029=) c.2422A= (p.Ile808=) c.6937A= (p.Ile2313=) n.8460A= | |
5 | g.13792108C>A | CA359219275 | DNAH5 | c.8334G>T (p.Lys2778Asn) c.8289G>T (p.Lys2763Asn) n.8541G>T c.8442G>T (p.Lys2814Asn) c.7347G>T (p.Lys2449Asn) c.3531G>T (p.Lys1177Asn) c.3084G>T (p.Lys1028Asn) c.2421G>T (p.Lys807Asn) c.6936G>T (p.Lys2312Asn) n.8459G>T | |
5 | g.13792108C>G | CA359219276 | DNAH5 | c.8334G>C (p.Lys2778Asn) c.8289G>C (p.Lys2763Asn) n.8541G>C c.8442G>C (p.Lys2814Asn) c.7347G>C (p.Lys2449Asn) c.3531G>C (p.Lys1177Asn) c.3084G>C (p.Lys1028Asn) c.2421G>C (p.Lys807Asn) c.6936G>C (p.Lys2312Asn) n.8459G>C | |
5 | g.13792108C>T | CA443263446 | DNAH5 | c.8334G>A (p.Lys2778=) c.8289G>A (p.Lys2763=) n.8541G>A c.8442G>A (p.Lys2814=) c.7347G>A (p.Lys2449=) c.3531G>A (p.Lys1177=) c.3084G>A (p.Lys1028=) c.2421G>A (p.Lys807=) c.6936G>A (p.Lys2312=) n.8459G>A | ClinVar |
5 | g.13792109T>A | CA359219278 | DNAH5 | c.8333A>T (p.Lys2778Met) c.8288A>T (p.Lys2763Met) n.8540A>T c.8441A>T (p.Lys2814Met) c.7346A>T (p.Lys2449Met) c.3530A>T (p.Lys1177Met) c.3083A>T (p.Lys1028Met) c.2420A>T (p.Lys807Met) c.6935A>T (p.Lys2312Met) n.8458A>T | |
5 | g.13792109T>C | CA359219280 | DNAH5 | c.8333A>G (p.Lys2778Arg) c.8288A>G (p.Lys2763Arg) n.8540A>G c.8441A>G (p.Lys2814Arg) c.7346A>G (p.Lys2449Arg) c.3530A>G (p.Lys1177Arg) c.3083A>G (p.Lys1028Arg) c.2420A>G (p.Lys807Arg) c.6935A>G (p.Lys2312Arg) n.8458A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792109T>G | CA359219285 | DNAH5 | c.8333A>C (p.Lys2778Thr) c.8288A>C (p.Lys2763Thr) n.8540A>C c.8441A>C (p.Lys2814Thr) c.7346A>C (p.Lys2449Thr) c.3530A>C (p.Lys1177Thr) c.3083A>C (p.Lys1028Thr) c.2420A>C (p.Lys807Thr) c.6935A>C (p.Lys2312Thr) n.8458A>C | |
5 | g.13792109T= | CA1528440970 | DNAH5 | c.8333A= (p.Lys2778=) c.8288A= (p.Lys2763=) n.8540A= c.8441A= (p.Lys2814=) c.7346A= (p.Lys2449=) c.3530A= (p.Lys1177=) c.3083A= (p.Lys1028=) c.2420A= (p.Lys807=) c.6935A= (p.Lys2312=) n.8458A= | |
5 | g.13792110T>A | CA359219287 | DNAH5 | c.8332A>T (p.Lys2778Ter) c.8287A>T (p.Lys2763Ter) n.8539A>T c.8440A>T (p.Lys2814Ter) c.7345A>T (p.Lys2449Ter) c.3529A>T (p.Lys1177Ter) c.3082A>T (p.Lys1028Ter) c.2419A>T (p.Lys807Ter) c.6934A>T (p.Lys2312Ter) n.8457A>T | |
5 | g.13792110T>C | CA359219289 | DNAH5 | c.8332A>G (p.Lys2778Glu) c.8287A>G (p.Lys2763Glu) n.8539A>G c.8440A>G (p.Lys2814Glu) c.7345A>G (p.Lys2449Glu) c.3529A>G (p.Lys1177Glu) c.3082A>G (p.Lys1028Glu) c.2419A>G (p.Lys807Glu) c.6934A>G (p.Lys2312Glu) n.8457A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13792110T>G | CA3202839 | DNAH5 | c.8332A>C (p.Lys2778Gln) c.8287A>C (p.Lys2763Gln) n.8539A>C c.8440A>C (p.Lys2814Gln) c.7345A>C (p.Lys2449Gln) c.3529A>C (p.Lys1177Gln) c.3082A>C (p.Lys1028Gln) c.2419A>C (p.Lys807Gln) c.6934A>C (p.Lys2312Gln) n.8457A>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.13792110T= | CA1528440971 | DNAH5 | c.8332A= (p.Lys2778=) c.8287A= (p.Lys2763=) n.8539A= c.8440A= (p.Lys2814=) c.7345A= (p.Lys2449=) c.3529A= (p.Lys1177=) c.3082A= (p.Lys1028=) c.2419A= (p.Lys807=) c.6934A= (p.Lys2312=) n.8457A= | |
5 | g.13792111G>A | CA443263447 | DNAH5 | c.8331C>T (p.Thr2777=) c.8286C>T (p.Thr2762=) n.8538C>T c.8439C>T (p.Thr2813=) c.7344C>T (p.Thr2448=) c.3528C>T (p.Thr1176=) c.3081C>T (p.Thr1027=) c.2418C>T (p.Thr806=) c.6933C>T (p.Thr2311=) n.8456C>T | ClinVar |
5 | g.13792111G>C | CA443263448 | DNAH5 | c.8331C>G (p.Thr2777=) c.8286C>G (p.Thr2762=) n.8538C>G c.8439C>G (p.Thr2813=) c.7344C>G (p.Thr2448=) c.3528C>G (p.Thr1176=) c.3081C>G (p.Thr1027=) c.2418C>G (p.Thr806=) c.6933C>G (p.Thr2311=) n.8456C>G | |
5 | g.13792111G= | CA1528440972 | DNAH5 | c.8331C= (p.Thr2777=) c.8286C= (p.Thr2762=) n.8538C= c.8439C= (p.Thr2813=) c.7344C= (p.Thr2448=) c.3528C= (p.Thr1176=) c.3081C= (p.Thr1027=) c.2418C= (p.Thr806=) c.6933C= (p.Thr2311=) n.8456C= | |
5 | g.13792111G>T | CA3202840 | DNAH5 | c.8331C>A (p.Thr2777=) c.8286C>A (p.Thr2762=) n.8538C>A c.8439C>A (p.Thr2813=) c.7344C>A (p.Thr2448=) c.3528C>A (p.Thr1176=) c.3081C>A (p.Thr1027=) c.2418C>A (p.Thr806=) c.6933C>A (p.Thr2311=) n.8456C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13792112G>A | CA359219298 | DNAH5 | c.8330C>T (p.Thr2777Ile) c.8285C>T (p.Thr2762Ile) n.8537C>T c.8438C>T (p.Thr2813Ile) c.7343C>T (p.Thr2448Ile) c.3527C>T (p.Thr1176Ile) c.3080C>T (p.Thr1027Ile) c.2417C>T (p.Thr806Ile) c.6932C>T (p.Thr2311Ile) n.8455C>T | |
5 | g.13792112G>C | CA359219293 | DNAH5 | c.8330C>G (p.Thr2777Ser) c.8285C>G (p.Thr2762Ser) n.8537C>G c.8438C>G (p.Thr2813Ser) c.7343C>G (p.Thr2448Ser) c.3527C>G (p.Thr1176Ser) c.3080C>G (p.Thr1027Ser) c.2417C>G (p.Thr806Ser) c.6932C>G (p.Thr2311Ser) n.8455C>G | gnomAD v4 |
5 | g.13792112G>T | CA359219295 | DNAH5 | c.8330C>A (p.Thr2777Asn) c.8285C>A (p.Thr2762Asn) n.8537C>A c.8438C>A (p.Thr2813Asn) c.7343C>A (p.Thr2448Asn) c.3527C>A (p.Thr1176Asn) c.3080C>A (p.Thr1027Asn) c.2417C>A (p.Thr806Asn) c.6932C>A (p.Thr2311Asn) n.8455C>A | |
5 | g.13792113T>A | CA359219301 | DNAH5 | c.8329A>T (p.Thr2777Ser) c.8284A>T (p.Thr2762Ser) n.8536A>T c.8437A>T (p.Thr2813Ser) c.7342A>T (p.Thr2448Ser) c.3526A>T (p.Thr1176Ser) c.3079A>T (p.Thr1027Ser) c.2416A>T (p.Thr806Ser) c.6931A>T (p.Thr2311Ser) n.8454A>T | dbSNP |
5 | g.13792113T>C | CA359219303 | DNAH5 | c.8329A>G (p.Thr2777Ala) c.8284A>G (p.Thr2762Ala) n.8536A>G c.8437A>G (p.Thr2813Ala) c.7342A>G (p.Thr2448Ala) c.3526A>G (p.Thr1176Ala) c.3079A>G (p.Thr1027Ala) c.2416A>G (p.Thr806Ala) c.6931A>G (p.Thr2311Ala) n.8454A>G | |
5 | g.13792113T>G | CA359219304 | DNAH5 | c.8329A>C (p.Thr2777Pro) c.8284A>C (p.Thr2762Pro) n.8536A>C c.8437A>C (p.Thr2813Pro) c.7342A>C (p.Thr2448Pro) c.3526A>C (p.Thr1176Pro) c.3079A>C (p.Thr1027Pro) c.2416A>C (p.Thr806Pro) c.6931A>C (p.Thr2311Pro) n.8454A>C | |
5 | g.13792114C>A | CA359219306 | DNAH5 | c.8328G>T (p.Met2776Ile) c.8283G>T (p.Met2761Ile) n.8535G>T c.8436G>T (p.Met2812Ile) c.7341G>T (p.Met2447Ile) c.3525G>T (p.Met1175Ile) c.3078G>T (p.Met1026Ile) c.2415G>T (p.Met805Ile) c.6930G>T (p.Met2310Ile) n.8453G>T | gnomAD v4 |
5 | g.13792114C= | CA1528440973 | DNAH5 | c.8328G= (p.Met2776=) c.8283G= (p.Met2761=) n.8535G= c.8436G= (p.Met2812=) c.7341G= (p.Met2447=) c.3525G= (p.Met1175=) c.3078G= (p.Met1026=) c.2415G= (p.Met805=) c.6930G= (p.Met2310=) n.8453G= | |
5 | g.13792114C>G | CA359219307 | DNAH5 | c.8328G>C (p.Met2776Ile) c.8283G>C (p.Met2761Ile) n.8535G>C c.8436G>C (p.Met2812Ile) c.7341G>C (p.Met2447Ile) c.3525G>C (p.Met1175Ile) c.3078G>C (p.Met1026Ile) c.2415G>C (p.Met805Ile) c.6930G>C (p.Met2310Ile) n.8453G>C | |
5 | g.13792114C>T | CA359219309 | DNAH5 | c.8328G>A (p.Met2776Ile) c.8283G>A (p.Met2761Ile) n.8535G>A c.8436G>A (p.Met2812Ile) c.7341G>A (p.Met2447Ile) c.3525G>A (p.Met1175Ile) c.3078G>A (p.Met1026Ile) c.2415G>A (p.Met805Ile) c.6930G>A (p.Met2310Ile) n.8453G>A | ClinVar dbSNP |
5 | g.13792115A>C | CA359219310 | DNAH5 | c.8327T>G (p.Met2776Arg) c.8282T>G (p.Met2761Arg) n.8534T>G c.8435T>G (p.Met2812Arg) c.7340T>G (p.Met2447Arg) c.3524T>G (p.Met1175Arg) c.3077T>G (p.Met1026Arg) c.2414T>G (p.Met805Arg) c.6929T>G (p.Met2310Arg) n.8452T>G | |
5 | g.13792115A>G | CA359219313 | DNAH5 | c.8327T>C (p.Met2776Thr) c.8282T>C (p.Met2761Thr) n.8534T>C c.8435T>C (p.Met2812Thr) c.7340T>C (p.Met2447Thr) c.3524T>C (p.Met1175Thr) c.3077T>C (p.Met1026Thr) c.2414T>C (p.Met805Thr) c.6929T>C (p.Met2310Thr) n.8452T>C | |
5 | g.13792115A>T | CA359219315 | DNAH5 | c.8327T>A (p.Met2776Lys) c.8282T>A (p.Met2761Lys) n.8534T>A c.8435T>A (p.Met2812Lys) c.7340T>A (p.Met2447Lys) c.3524T>A (p.Met1175Lys) c.3077T>A (p.Met1026Lys) c.2414T>A (p.Met805Lys) c.6929T>A (p.Met2310Lys) n.8452T>A | |
5 | g.13792116T>A | CA359219318 | DNAH5 | c.8326A>T (p.Met2776Leu) c.8281A>T (p.Met2761Leu) n.8533A>T c.8434A>T (p.Met2812Leu) c.7339A>T (p.Met2447Leu) c.3523A>T (p.Met1175Leu) c.3076A>T (p.Met1026Leu) c.2413A>T (p.Met805Leu) c.6928A>T (p.Met2310Leu) n.8451A>T | gnomAD v4 |
5 | g.13792116T>C | CA359219320 | DNAH5 | c.8326A>G (p.Met2776Val) c.8281A>G (p.Met2761Val) n.8533A>G c.8434A>G (p.Met2812Val) c.7339A>G (p.Met2447Val) c.3523A>G (p.Met1175Val) c.3076A>G (p.Met1026Val) c.2413A>G (p.Met805Val) c.6928A>G (p.Met2310Val) n.8451A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792116T>G | CA359219321 | DNAH5 | c.8326A>C (p.Met2776Leu) c.8281A>C (p.Met2761Leu) n.8533A>C c.8434A>C (p.Met2812Leu) c.7339A>C (p.Met2447Leu) c.3523A>C (p.Met1175Leu) c.3076A>C (p.Met1026Leu) c.2413A>C (p.Met805Leu) c.6928A>C (p.Met2310Leu) n.8451A>C | |
5 | g.13792116T= | CA1528440974 | DNAH5 | c.8326A= (p.Met2776=) c.8281A= (p.Met2761=) n.8533A= c.8434A= (p.Met2812=) c.7339A= (p.Met2447=) c.3523A= (p.Met1175=) c.3076A= (p.Met1026=) c.2413A= (p.Met805=) c.6928A= (p.Met2310=) n.8451A= | |
5 | g.13792117C>A | CA359219323 | DNAH5 | c.8325G>T (p.Gln2775His) c.8280G>T (p.Gln2760His) n.8532G>T c.8433G>T (p.Gln2811His) c.7338G>T (p.Gln2446His) c.3522G>T (p.Gln1174His) c.3075G>T (p.Gln1025His) c.2412G>T (p.Gln804His) c.6927G>T (p.Gln2309His) n.8450G>T | |
5 | g.13792117C>G | CA359219325 | DNAH5 | c.8325G>C (p.Gln2775His) c.8280G>C (p.Gln2760His) n.8532G>C c.8433G>C (p.Gln2811His) c.7338G>C (p.Gln2446His) c.3522G>C (p.Gln1174His) c.3075G>C (p.Gln1025His) c.2412G>C (p.Gln804His) c.6927G>C (p.Gln2309His) n.8450G>C | |
5 | g.13792117C>T | CA443263449 | DNAH5 | c.8325G>A (p.Gln2775=) c.8280G>A (p.Gln2760=) n.8532G>A c.8433G>A (p.Gln2811=) c.7338G>A (p.Gln2446=) c.3522G>A (p.Gln1174=) c.3075G>A (p.Gln1025=) c.2412G>A (p.Gln804=) c.6927G>A (p.Gln2309=) n.8450G>A | gnomAD v4 COSMIC |
5 | g.13792118T>A | CA359219327 | DNAH5 | c.8324A>T (p.Gln2775Leu) c.8279A>T (p.Gln2760Leu) n.8531A>T c.8432A>T (p.Gln2811Leu) c.7337A>T (p.Gln2446Leu) c.3521A>T (p.Gln1174Leu) c.3074A>T (p.Gln1025Leu) c.2411A>T (p.Gln804Leu) c.6926A>T (p.Gln2309Leu) n.8449A>T | |
5 | g.13792118T>C | CA359219328 | DNAH5 | c.8324A>G (p.Gln2775Arg) c.8279A>G (p.Gln2760Arg) n.8531A>G c.8432A>G (p.Gln2811Arg) c.7337A>G (p.Gln2446Arg) c.3521A>G (p.Gln1174Arg) c.3074A>G (p.Gln1025Arg) c.2411A>G (p.Gln804Arg) c.6926A>G (p.Gln2309Arg) n.8449A>G | ClinVar dbSNP gnomAD v4 |
5 | g.13792118T>G | CA359219330 | DNAH5 | c.8324A>C (p.Gln2775Pro) c.8279A>C (p.Gln2760Pro) n.8531A>C c.8432A>C (p.Gln2811Pro) c.7337A>C (p.Gln2446Pro) c.3521A>C (p.Gln1174Pro) c.3074A>C (p.Gln1025Pro) c.2411A>C (p.Gln804Pro) c.6926A>C (p.Gln2309Pro) n.8449A>C | |
5 | g.13792119G>A | CA359219333 | DNAH5 | c.8323C>T (p.Gln2775Ter) c.8278C>T (p.Gln2760Ter) n.8530C>T c.8431C>T (p.Gln2811Ter) c.7336C>T (p.Gln2446Ter) c.3520C>T (p.Gln1174Ter) c.3073C>T (p.Gln1025Ter) c.2410C>T (p.Gln804Ter) c.6925C>T (p.Gln2309Ter) n.8448C>T | |
5 | g.13792119G>C | CA359219334 | DNAH5 | c.8323C>G (p.Gln2775Glu) c.8278C>G (p.Gln2760Glu) n.8530C>G c.8431C>G (p.Gln2811Glu) c.7336C>G (p.Gln2446Glu) c.3520C>G (p.Gln1174Glu) c.3073C>G (p.Gln1025Glu) c.2410C>G (p.Gln804Glu) c.6925C>G (p.Gln2309Glu) n.8448C>G | |
5 | g.13792119G>T | CA359219336 | DNAH5 | c.8323C>A (p.Gln2775Lys) c.8278C>A (p.Gln2760Lys) n.8530C>A c.8431C>A (p.Gln2811Lys) c.7336C>A (p.Gln2446Lys) c.3520C>A (p.Gln1174Lys) c.3073C>A (p.Gln1025Lys) c.2410C>A (p.Gln804Lys) c.6925C>A (p.Gln2309Lys) n.8448C>A | |
5 | g.13792120C>A | CA359219338 | DNAH5 | c.8322G>T (p.Trp2774Cys) c.8277G>T (p.Trp2759Cys) n.8529G>T c.8430G>T (p.Trp2810Cys) c.7335G>T (p.Trp2445Cys) c.3519G>T (p.Trp1173Cys) c.3072G>T (p.Trp1024Cys) c.2409G>T (p.Trp803Cys) c.6924G>T (p.Trp2308Cys) n.8447G>T | |
5 | g.13792120C= | CA1528440975 | DNAH5 | c.8322G= (p.Trp2774=) c.8277G= (p.Trp2759=) n.8529G= c.8430G= (p.Trp2810=) c.7335G= (p.Trp2445=) c.3519G= (p.Trp1173=) c.3072G= (p.Trp1024=) c.2409G= (p.Trp803=) c.6924G= (p.Trp2308=) n.8447G= | |
5 | g.13792120C>G | CA359219340 | DNAH5 | c.8322G>C (p.Trp2774Cys) c.8277G>C (p.Trp2759Cys) n.8529G>C c.8430G>C (p.Trp2810Cys) c.7335G>C (p.Trp2445Cys) c.3519G>C (p.Trp1173Cys) c.3072G>C (p.Trp1024Cys) c.2409G>C (p.Trp803Cys) c.6924G>C (p.Trp2308Cys) n.8447G>C | |
5 | g.13792120C>T | CA359219342 | DNAH5 | c.8322G>A (p.Trp2774Ter) c.8277G>A (p.Trp2759Ter) n.8529G>A c.8430G>A (p.Trp2810Ter) c.7335G>A (p.Trp2445Ter) c.3519G>A (p.Trp1173Ter) c.3072G>A (p.Trp1024Ter) c.2409G>A (p.Trp803Ter) c.6924G>A (p.Trp2308Ter) n.8447G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792120_13792121insG | CA658796506 | DNAH5 | c.8321_8322insC (p.Trp2774CysfsTer7) c.8276_8277insC (p.Trp2759CysfsTer7) n.8528_8529insC c.8429_8430insC (p.Trp2810CysfsTer7) c.7334_7335insC (p.Trp2445CysfsTer7) c.3518_3519insC (p.Trp1173CysfsTer7) c.3071_3072insC (p.Trp1024CysfsTer7) c.2408_2409insC (p.Trp803CysfsTer7) c.6923_6924insC (p.Trp2308CysfsTer7) n.8446_8447insC | ClinVar dbSNP gnomAD v4 |
5 | g.13792121C>A | CA359219345 | DNAH5 | c.8321G>T (p.Trp2774Leu) c.8276G>T (p.Trp2759Leu) n.8528G>T c.8429G>T (p.Trp2810Leu) c.7334G>T (p.Trp2445Leu) c.3518G>T (p.Trp1173Leu) c.3071G>T (p.Trp1024Leu) c.2408G>T (p.Trp803Leu) c.6923G>T (p.Trp2308Leu) n.8446G>T | |
5 | g.13792121C>G | CA359219346 | DNAH5 | c.8321G>C (p.Trp2774Ser) c.8276G>C (p.Trp2759Ser) n.8528G>C c.8429G>C (p.Trp2810Ser) c.7334G>C (p.Trp2445Ser) c.3518G>C (p.Trp1173Ser) c.3071G>C (p.Trp1024Ser) c.2408G>C (p.Trp803Ser) c.6923G>C (p.Trp2308Ser) n.8446G>C | |
5 | g.13792121C>T | CA359219347 | DNAH5 | c.8321G>A (p.Trp2774Ter) c.8276G>A (p.Trp2759Ter) n.8528G>A c.8429G>A (p.Trp2810Ter) c.7334G>A (p.Trp2445Ter) c.3518G>A (p.Trp1173Ter) c.3071G>A (p.Trp1024Ter) c.2408G>A (p.Trp803Ter) c.6923G>A (p.Trp2308Ter) n.8446G>A | ClinVar |
5 | g.13792122A>C | CA359219353 | DNAH5 | c.8320T>G (p.Trp2774Gly) c.8275T>G (p.Trp2759Gly) n.8527T>G c.8428T>G (p.Trp2810Gly) c.7333T>G (p.Trp2445Gly) c.3517T>G (p.Trp1173Gly) c.3070T>G (p.Trp1024Gly) c.2407T>G (p.Trp803Gly) c.6922T>G (p.Trp2308Gly) n.8445T>G | |
5 | g.13792122A>G | CA16609321 | DNAH5 | c.8320T>C (p.Trp2774Arg) c.8275T>C (p.Trp2759Arg) n.8527T>C c.8428T>C (p.Trp2810Arg) c.7333T>C (p.Trp2445Arg) c.3517T>C (p.Trp1173Arg) c.3070T>C (p.Trp1024Arg) c.2407T>C (p.Trp803Arg) c.6922T>C (p.Trp2308Arg) n.8445T>C | gnomAD v4 |
5 | g.13792122A>T | CA359219350 | DNAH5 | c.8320T>A (p.Trp2774Arg) c.8275T>A (p.Trp2759Arg) n.8527T>A c.8428T>A (p.Trp2810Arg) c.7333T>A (p.Trp2445Arg) c.3517T>A (p.Trp1173Arg) c.3070T>A (p.Trp1024Arg) c.2407T>A (p.Trp803Arg) c.6922T>A (p.Trp2308Arg) n.8445T>A | |
5 | g.13792123T>A | CA443263450 | DNAH5 | c.8319A>T (p.Leu2773=) c.8274A>T (p.Leu2758=) n.8526A>T c.8427A>T (p.Leu2809=) c.7332A>T (p.Leu2444=) c.3516A>T (p.Leu1172=) c.3069A>T (p.Leu1023=) c.2406A>T (p.Leu802=) c.6921A>T (p.Leu2307=) n.8444A>T | gnomAD v4 |
5 | g.13792123T>C | CA3202841 | DNAH5 | c.8319A>G (p.Leu2773=) c.8274A>G (p.Leu2758=) n.8526A>G c.8427A>G (p.Leu2809=) c.7332A>G (p.Leu2444=) c.3516A>G (p.Leu1172=) c.3069A>G (p.Leu1023=) c.2406A>G (p.Leu802=) c.6921A>G (p.Leu2307=) n.8444A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13792123T>G | CA443263451 | DNAH5 | c.8319A>C (p.Leu2773=) c.8274A>C (p.Leu2758=) n.8526A>C c.8427A>C (p.Leu2809=) c.7332A>C (p.Leu2444=) c.3516A>C (p.Leu1172=) c.3069A>C (p.Leu1023=) c.2406A>C (p.Leu802=) c.6921A>C (p.Leu2307=) n.8444A>C | |
5 | g.13792123T= | CA1528440976 | DNAH5 | c.8319A= (p.Leu2773=) c.8274A= (p.Leu2758=) n.8526A= c.8427A= (p.Leu2809=) c.7332A= (p.Leu2444=) c.3516A= (p.Leu1172=) c.3069A= (p.Leu1023=) c.2406A= (p.Leu802=) c.6921A= (p.Leu2307=) n.8444A= | |
5 | g.13792124A= | CA1528440977 | DNAH5 | c.8318T= (p.Leu2773=) c.8273T= (p.Leu2758=) n.8525T= c.8426T= (p.Leu2809=) c.7331T= (p.Leu2444=) c.3515T= (p.Leu1172=) c.3068T= (p.Leu1023=) c.2405T= (p.Leu802=) c.6920T= (p.Leu2307=) n.8443T= | |
5 | g.13792124A>C | CA359219358 | DNAH5 | c.8318T>G (p.Leu2773Arg) c.8273T>G (p.Leu2758Arg) n.8525T>G c.8426T>G (p.Leu2809Arg) c.7331T>G (p.Leu2444Arg) c.3515T>G (p.Leu1172Arg) c.3068T>G (p.Leu1023Arg) c.2405T>G (p.Leu802Arg) c.6920T>G (p.Leu2307Arg) n.8443T>G | |
5 | g.13792124A>G | CA359219362 | DNAH5 | c.8318T>C (p.Leu2773Pro) c.8273T>C (p.Leu2758Pro) n.8525T>C c.8426T>C (p.Leu2809Pro) c.7331T>C (p.Leu2444Pro) c.3515T>C (p.Leu1172Pro) c.3068T>C (p.Leu1023Pro) c.2405T>C (p.Leu802Pro) c.6920T>C (p.Leu2307Pro) n.8443T>C | dbSNP gnomAD v4 |
5 | g.13792124A>T | CA359219363 | DNAH5 | c.8318T>A (p.Leu2773Gln) c.8273T>A (p.Leu2758Gln) n.8525T>A c.8426T>A (p.Leu2809Gln) c.7331T>A (p.Leu2444Gln) c.3515T>A (p.Leu1172Gln) c.3068T>A (p.Leu1023Gln) c.2405T>A (p.Leu802Gln) c.6920T>A (p.Leu2307Gln) n.8443T>A | |
5 | g.13792125G>A | CA443263457 | DNAH5 | c.8317C>T (p.Leu2773=) c.8272C>T (p.Leu2758=) n.8524C>T c.8425C>T (p.Leu2809=) c.7330C>T (p.Leu2444=) c.3514C>T (p.Leu1172=) c.3067C>T (p.Leu1023=) c.2404C>T (p.Leu802=) c.6919C>T (p.Leu2307=) n.8442C>T | dbSNP gnomAD v4 |
5 | g.13792125G>C | CA359219366 | DNAH5 | c.8317C>G (p.Leu2773Val) c.8272C>G (p.Leu2758Val) n.8524C>G c.8425C>G (p.Leu2809Val) c.7330C>G (p.Leu2444Val) c.3514C>G (p.Leu1172Val) c.3067C>G (p.Leu1023Val) c.2404C>G (p.Leu802Val) c.6919C>G (p.Leu2307Val) n.8442C>G | |
5 | g.13792125G= | CA1528440978 | DNAH5 | c.8317C= (p.Leu2773=) c.8272C= (p.Leu2758=) n.8524C= c.8425C= (p.Leu2809=) c.7330C= (p.Leu2444=) c.3514C= (p.Leu1172=) c.3067C= (p.Leu1023=) c.2404C= (p.Leu802=) c.6919C= (p.Leu2307=) n.8442C= | |
5 | g.13792125G>T | CA359219369 | DNAH5 | c.8317C>A (p.Leu2773Ile) c.8272C>A (p.Leu2758Ile) n.8524C>A c.8425C>A (p.Leu2809Ile) c.7330C>A (p.Leu2444Ile) c.3514C>A (p.Leu1172Ile) c.3067C>A (p.Leu1023Ile) c.2404C>A (p.Leu802Ile) c.6919C>A (p.Leu2307Ile) n.8442C>A | |
5 | g.13792126T>A | CA443263462 | DNAH5 | c.8316A>T (p.Arg2772=) c.8271A>T (p.Arg2757=) n.8523A>T c.8424A>T (p.Arg2808=) c.7329A>T (p.Arg2443=) c.3513A>T (p.Arg1171=) c.3066A>T (p.Arg1022=) c.2403A>T (p.Arg801=) c.6918A>T (p.Arg2306=) n.8441A>T | |
5 | g.13792126T>C | CA3202842 | DNAH5 | c.8316A>G (p.Arg2772=) c.8271A>G (p.Arg2757=) n.8523A>G c.8424A>G (p.Arg2808=) c.7329A>G (p.Arg2443=) c.3513A>G (p.Arg1171=) c.3066A>G (p.Arg1022=) c.2403A>G (p.Arg801=) c.6918A>G (p.Arg2306=) n.8441A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13792126T>G | CA443263466 | DNAH5 | c.8316A>C (p.Arg2772=) c.8271A>C (p.Arg2757=) n.8523A>C c.8424A>C (p.Arg2808=) c.7329A>C (p.Arg2443=) c.3513A>C (p.Arg1171=) c.3066A>C (p.Arg1022=) c.2403A>C (p.Arg801=) c.6918A>C (p.Arg2306=) n.8441A>C | |
5 | g.13792126T= | CA1528440979 | DNAH5 | c.8316A= (p.Arg2772=) c.8271A= (p.Arg2757=) n.8523A= c.8424A= (p.Arg2808=) c.7329A= (p.Arg2443=) c.3513A= (p.Arg1171=) c.3066A= (p.Arg1022=) c.2403A= (p.Arg801=) c.6918A= (p.Arg2306=) n.8441A= | |
5 | g.13792127C>A | CA359219385 | DNAH5 | c.8315G>T (p.Arg2772Leu) c.8270G>T (p.Arg2757Leu) n.8522G>T c.8423G>T (p.Arg2808Leu) c.7328G>T (p.Arg2443Leu) c.3512G>T (p.Arg1171Leu) c.3065G>T (p.Arg1022Leu) c.2402G>T (p.Arg801Leu) c.6917G>T (p.Arg2306Leu) n.8440G>T | gnomAD v4 |
5 | g.13792127C= | CA1528440980 | DNAH5 | c.8315G= (p.Arg2772=) c.8270G= (p.Arg2757=) n.8522G= c.8423G= (p.Arg2808=) c.7328G= (p.Arg2443=) c.3512G= (p.Arg1171=) c.3065G= (p.Arg1022=) c.2402G= (p.Arg801=) c.6917G= (p.Arg2306=) n.8440G= | |
5 | g.13792127C>G | CA359219389 | DNAH5 | c.8315G>C (p.Arg2772Pro) c.8270G>C (p.Arg2757Pro) n.8522G>C c.8423G>C (p.Arg2808Pro) c.7328G>C (p.Arg2443Pro) c.3512G>C (p.Arg1171Pro) c.3065G>C (p.Arg1022Pro) c.2402G>C (p.Arg801Pro) c.6917G>C (p.Arg2306Pro) n.8440G>C | gnomAD v4 |
5 | g.13792127C>T | CA3202843 | DNAH5 | c.8315G>A (p.Arg2772Gln) c.8270G>A (p.Arg2757Gln) n.8522G>A c.8423G>A (p.Arg2808Gln) c.7328G>A (p.Arg2443Gln) c.3512G>A (p.Arg1171Gln) c.3065G>A (p.Arg1022Gln) c.2402G>A (p.Arg801Gln) c.6917G>A (p.Arg2306Gln) n.8440G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792128G>A | CA3202844 | DNAH5 | c.8314C>T (p.Arg2772Ter) c.8269C>T (p.Arg2757Ter) n.8521C>T c.8422C>T (p.Arg2808Ter) c.7327C>T (p.Arg2443Ter) c.3511C>T (p.Arg1171Ter) c.3064C>T (p.Arg1022Ter) c.2401C>T (p.Arg801Ter) c.6916C>T (p.Arg2306Ter) n.8439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13792128G>C | CA359219395 | DNAH5 | c.8314C>G (p.Arg2772Gly) c.8269C>G (p.Arg2757Gly) n.8521C>G c.8422C>G (p.Arg2808Gly) c.7327C>G (p.Arg2443Gly) c.3511C>G (p.Arg1171Gly) c.3064C>G (p.Arg1022Gly) c.2401C>G (p.Arg801Gly) c.6916C>G (p.Arg2306Gly) n.8439C>G | |
5 | g.13792128G= | CA1528440981 | DNAH5 | c.8314C= (p.Arg2772=) c.8269C= (p.Arg2757=) n.8521C= c.8422C= (p.Arg2808=) c.7327C= (p.Arg2443=) c.3511C= (p.Arg1171=) c.3064C= (p.Arg1022=) c.2401C= (p.Arg801=) c.6916C= (p.Arg2306=) n.8439C= | |
5 | g.13792128G>T | CA443263478 | DNAH5 | c.8314C>A (p.Arg2772=) c.8269C>A (p.Arg2757=) n.8521C>A c.8422C>A (p.Arg2808=) c.7327C>A (p.Arg2443=) c.3511C>A (p.Arg1171=) c.3064C>A (p.Arg1022=) c.2401C>A (p.Arg801=) c.6916C>A (p.Arg2306=) n.8439C>A | |
5 | g.13792129G>A | CA443263481 | DNAH5 | c.8313C>T (p.Arg2771=) c.8268C>T (p.Arg2756=) n.8520C>T c.8421C>T (p.Arg2807=) c.7326C>T (p.Arg2442=) c.3510C>T (p.Arg1170=) c.3063C>T (p.Arg1021=) c.2400C>T (p.Arg800=) c.6915C>T (p.Arg2305=) n.8438C>T | gnomAD v4 |
5 | g.13792129G>C | CA443263485 | DNAH5 | c.8313C>G (p.Arg2771=) c.8268C>G (p.Arg2756=) n.8520C>G c.8421C>G (p.Arg2807=) c.7326C>G (p.Arg2442=) c.3510C>G (p.Arg1170=) c.3063C>G (p.Arg1021=) c.2400C>G (p.Arg800=) c.6915C>G (p.Arg2305=) n.8438C>G | |
5 | g.13792129G>T | CA443263483 | DNAH5 | c.8313C>A (p.Arg2771=) c.8268C>A (p.Arg2756=) n.8520C>A c.8421C>A (p.Arg2807=) c.7326C>A (p.Arg2442=) c.3510C>A (p.Arg1170=) c.3063C>A (p.Arg1021=) c.2400C>A (p.Arg800=) c.6915C>A (p.Arg2305=) n.8438C>A | |
5 | g.13792130C>A | CA113960200 | DNAH5 | c.8312G>T (p.Arg2771Leu) c.8267G>T (p.Arg2756Leu) n.8519G>T c.8420G>T (p.Arg2807Leu) c.7325G>T (p.Arg2442Leu) c.3509G>T (p.Arg1170Leu) c.3062G>T (p.Arg1021Leu) c.2399G>T (p.Arg800Leu) c.6914G>T (p.Arg2305Leu) n.8437G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792130C= | CA1528440982 | DNAH5 | c.8312G= (p.Arg2771=) c.8267G= (p.Arg2756=) n.8519G= c.8420G= (p.Arg2807=) c.7325G= (p.Arg2442=) c.3509G= (p.Arg1170=) c.3062G= (p.Arg1021=) c.2399G= (p.Arg800=) c.6914G= (p.Arg2305=) n.8437G= | |
5 | g.13792130C>G | CA359219407 | DNAH5 | c.8312G>C (p.Arg2771Pro) c.8267G>C (p.Arg2756Pro) n.8519G>C c.8420G>C (p.Arg2807Pro) c.7325G>C (p.Arg2442Pro) c.3509G>C (p.Arg1170Pro) c.3062G>C (p.Arg1021Pro) c.2399G>C (p.Arg800Pro) c.6914G>C (p.Arg2305Pro) n.8437G>C | |
5 | g.13792130C>T | CA3202845 | DNAH5 | c.8312G>A (p.Arg2771His) c.8267G>A (p.Arg2756His) n.8519G>A c.8420G>A (p.Arg2807His) c.7325G>A (p.Arg2442His) c.3509G>A (p.Arg1170His) c.3062G>A (p.Arg1021His) c.2399G>A (p.Arg800His) c.6914G>A (p.Arg2305His) n.8437G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792131G>A | CA3202846 | DNAH5 | c.8311C>T (p.Arg2771Cys) c.8266C>T (p.Arg2756Cys) n.8518C>T c.8419C>T (p.Arg2807Cys) c.7324C>T (p.Arg2442Cys) c.3508C>T (p.Arg1170Cys) c.3061C>T (p.Arg1021Cys) c.2398C>T (p.Arg800Cys) c.6913C>T (p.Arg2305Cys) n.8436C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13792131G>C | CA359219418 | DNAH5 | c.8311C>G (p.Arg2771Gly) c.8266C>G (p.Arg2756Gly) n.8518C>G c.8419C>G (p.Arg2807Gly) c.7324C>G (p.Arg2442Gly) c.3508C>G (p.Arg1170Gly) c.3061C>G (p.Arg1021Gly) c.2398C>G (p.Arg800Gly) c.6913C>G (p.Arg2305Gly) n.8436C>G | |
5 | g.13792131G= | CA1528440983 | DNAH5 | c.8311C= (p.Arg2771=) c.8266C= (p.Arg2756=) n.8518C= c.8419C= (p.Arg2807=) c.7324C= (p.Arg2442=) c.3508C= (p.Arg1170=) c.3061C= (p.Arg1021=) c.2398C= (p.Arg800=) c.6913C= (p.Arg2305=) n.8436C= | |
5 | g.13792131G>T | CA359219413 | DNAH5 | c.8311C>A (p.Arg2771Ser) c.8266C>A (p.Arg2756Ser) n.8518C>A c.8419C>A (p.Arg2807Ser) c.7324C>A (p.Arg2442Ser) c.3508C>A (p.Arg1170Ser) c.3061C>A (p.Arg1021Ser) c.2398C>A (p.Arg800Ser) c.6913C>A (p.Arg2305Ser) n.8436C>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792132T>A | CA443263500 | DNAH5 | c.8310A>T (p.Thr2770=) c.8265A>T (p.Thr2755=) n.8517A>T c.8418A>T (p.Thr2806=) c.7323A>T (p.Thr2441=) c.3507A>T (p.Thr1169=) c.3060A>T (p.Thr1020=) c.2397A>T (p.Thr799=) c.6912A>T (p.Thr2304=) n.8435A>T | |
5 | g.13792132T>C | CA443263502 | DNAH5 | c.8310A>G (p.Thr2770=) c.8265A>G (p.Thr2755=) n.8517A>G c.8418A>G (p.Thr2806=) c.7323A>G (p.Thr2441=) c.3507A>G (p.Thr1169=) c.3060A>G (p.Thr1020=) c.2397A>G (p.Thr799=) c.6912A>G (p.Thr2304=) n.8435A>G | |
5 | g.13792132T>G | CA443263505 | DNAH5 | c.8310A>C (p.Thr2770=) c.8265A>C (p.Thr2755=) n.8517A>C c.8418A>C (p.Thr2806=) c.7323A>C (p.Thr2441=) c.3507A>C (p.Thr1169=) c.3060A>C (p.Thr1020=) c.2397A>C (p.Thr799=) c.6912A>C (p.Thr2304=) n.8435A>C | |
5 | g.13792133G>A | CA359219422 | DNAH5 | c.8309C>T (p.Thr2770Ile) c.8264C>T (p.Thr2755Ile) n.8516C>T c.8417C>T (p.Thr2806Ile) c.7322C>T (p.Thr2441Ile) c.3506C>T (p.Thr1169Ile) c.3059C>T (p.Thr1020Ile) c.2396C>T (p.Thr799Ile) c.6911C>T (p.Thr2304Ile) n.8434C>T | |
5 | g.13792133G>C | CA359219423 | DNAH5 | c.8309C>G (p.Thr2770Arg) c.8264C>G (p.Thr2755Arg) n.8516C>G c.8417C>G (p.Thr2806Arg) c.7322C>G (p.Thr2441Arg) c.3506C>G (p.Thr1169Arg) c.3059C>G (p.Thr1020Arg) c.2396C>G (p.Thr799Arg) c.6911C>G (p.Thr2304Arg) n.8434C>G | |
5 | g.13792133G>T | CA359219426 | DNAH5 | c.8309C>A (p.Thr2770Lys) c.8264C>A (p.Thr2755Lys) n.8516C>A c.8417C>A (p.Thr2806Lys) c.7322C>A (p.Thr2441Lys) c.3506C>A (p.Thr1169Lys) c.3059C>A (p.Thr1020Lys) c.2396C>A (p.Thr799Lys) c.6911C>A (p.Thr2304Lys) n.8434C>A | |
5 | g.13792134T>A | CA359219430 | DNAH5 | c.8308A>T (p.Thr2770Ser) c.8263A>T (p.Thr2755Ser) n.8515A>T c.8416A>T (p.Thr2806Ser) c.7321A>T (p.Thr2441Ser) c.3505A>T (p.Thr1169Ser) c.3058A>T (p.Thr1020Ser) c.2395A>T (p.Thr799Ser) c.6910A>T (p.Thr2304Ser) n.8433A>T | |
5 | g.13792134T>C | CA3202847 | DNAH5 | c.8308A>G (p.Thr2770Ala) c.8263A>G (p.Thr2755Ala) n.8515A>G c.8416A>G (p.Thr2806Ala) c.7321A>G (p.Thr2441Ala) c.3505A>G (p.Thr1169Ala) c.3058A>G (p.Thr1020Ala) c.2395A>G (p.Thr799Ala) c.6910A>G (p.Thr2304Ala) n.8433A>G | dbSNP ExAC gnomAD v2 |
5 | g.13792134T>G | CA359219432 | DNAH5 | c.8308A>C (p.Thr2770Pro) c.8263A>C (p.Thr2755Pro) n.8515A>C c.8416A>C (p.Thr2806Pro) c.7321A>C (p.Thr2441Pro) c.3505A>C (p.Thr1169Pro) c.3058A>C (p.Thr1020Pro) c.2395A>C (p.Thr799Pro) c.6910A>C (p.Thr2304Pro) n.8433A>C | |
5 | g.13792134T= | CA1528440984 | DNAH5 | c.8308A= (p.Thr2770=) c.8263A= (p.Thr2755=) n.8515A= c.8416A= (p.Thr2806=) c.7321A= (p.Thr2441=) c.3505A= (p.Thr1169=) c.3058A= (p.Thr1020=) c.2395A= (p.Thr799=) c.6910A= (p.Thr2304=) n.8433A= | |
5 | g.13792135C>A | CA443263521 | DNAH5 | c.8307G>T (p.Leu2769=) c.8262G>T (p.Leu2754=) n.8514G>T c.8415G>T (p.Leu2805=) c.7320G>T (p.Leu2440=) c.3504G>T (p.Leu1168=) c.3057G>T (p.Leu1019=) c.2394G>T (p.Leu798=) c.6909G>T (p.Leu2303=) n.8432G>T | ClinVar |
5 | g.13792135C>G | CA443263523 | DNAH5 | c.8307G>C (p.Leu2769=) c.8262G>C (p.Leu2754=) n.8514G>C c.8415G>C (p.Leu2805=) c.7320G>C (p.Leu2440=) c.3504G>C (p.Leu1168=) c.3057G>C (p.Leu1019=) c.2394G>C (p.Leu798=) c.6909G>C (p.Leu2303=) n.8432G>C | |
5 | g.13792135C>T | CA443263525 | DNAH5 | c.8307G>A (p.Leu2769=) c.8262G>A (p.Leu2754=) n.8514G>A c.8415G>A (p.Leu2805=) c.7320G>A (p.Leu2440=) c.3504G>A (p.Leu1168=) c.3057G>A (p.Leu1019=) c.2394G>A (p.Leu798=) c.6909G>A (p.Leu2303=) n.8432G>A | |
5 | g.13792136A>C | CA359219434 | DNAH5 | c.8306T>G (p.Leu2769Arg) c.8261T>G (p.Leu2754Arg) n.8513T>G c.8414T>G (p.Leu2805Arg) c.7319T>G (p.Leu2440Arg) c.3503T>G (p.Leu1168Arg) c.3056T>G (p.Leu1019Arg) c.2393T>G (p.Leu798Arg) c.6908T>G (p.Leu2303Arg) n.8431T>G | |
5 | g.13792136A>G | CA359219436 | DNAH5 | c.8306T>C (p.Leu2769Pro) c.8261T>C (p.Leu2754Pro) n.8513T>C c.8414T>C (p.Leu2805Pro) c.7319T>C (p.Leu2440Pro) c.3503T>C (p.Leu1168Pro) c.3056T>C (p.Leu1019Pro) c.2393T>C (p.Leu798Pro) c.6908T>C (p.Leu2303Pro) n.8431T>C | |
5 | g.13792136A>T | CA359219438 | DNAH5 | c.8306T>A (p.Leu2769Gln) c.8261T>A (p.Leu2754Gln) n.8513T>A c.8414T>A (p.Leu2805Gln) c.7319T>A (p.Leu2440Gln) c.3503T>A (p.Leu1168Gln) c.3056T>A (p.Leu1019Gln) c.2393T>A (p.Leu798Gln) c.6908T>A (p.Leu2303Gln) n.8431T>A | |
5 | g.13792137G>A | CA443263531 | DNAH5 | c.8305C>T (p.Leu2769=) c.8260C>T (p.Leu2754=) n.8512C>T c.8413C>T (p.Leu2805=) c.7318C>T (p.Leu2440=) c.3502C>T (p.Leu1168=) c.3055C>T (p.Leu1019=) c.2392C>T (p.Leu798=) c.6907C>T (p.Leu2303=) n.8430C>T | |
5 | g.13792137G>C | CA359219440 | DNAH5 | c.8305C>G (p.Leu2769Val) c.8260C>G (p.Leu2754Val) n.8512C>G c.8413C>G (p.Leu2805Val) c.7318C>G (p.Leu2440Val) c.3502C>G (p.Leu1168Val) c.3055C>G (p.Leu1019Val) c.2392C>G (p.Leu798Val) c.6907C>G (p.Leu2303Val) n.8430C>G | |
5 | g.13792137G>T | CA359219442 | DNAH5 | c.8305C>A (p.Leu2769Met) c.8260C>A (p.Leu2754Met) n.8512C>A c.8413C>A (p.Leu2805Met) c.7318C>A (p.Leu2440Met) c.3502C>A (p.Leu1168Met) c.3055C>A (p.Leu1019Met) c.2392C>A (p.Leu798Met) c.6907C>A (p.Leu2303Met) n.8430C>A | |
5 | g.13792138A>C | CA443263536 | DNAH5 | c.8304T>G (p.Pro2768=) c.8259T>G (p.Pro2753=) n.8511T>G c.8412T>G (p.Pro2804=) c.7317T>G (p.Pro2439=) c.3501T>G (p.Pro1167=) c.3054T>G (p.Pro1018=) c.2391T>G (p.Pro797=) c.6906T>G (p.Pro2302=) n.8429T>G | |
5 | g.13792138A>G | CA443263539 | DNAH5 | c.8304T>C (p.Pro2768=) c.8259T>C (p.Pro2753=) n.8511T>C c.8412T>C (p.Pro2804=) c.7317T>C (p.Pro2439=) c.3501T>C (p.Pro1167=) c.3054T>C (p.Pro1018=) c.2391T>C (p.Pro797=) c.6906T>C (p.Pro2302=) n.8429T>C | |
5 | g.13792138A>T | CA443263541 | DNAH5 | c.8304T>A (p.Pro2768=) c.8259T>A (p.Pro2753=) n.8511T>A c.8412T>A (p.Pro2804=) c.7317T>A (p.Pro2439=) c.3501T>A (p.Pro1167=) c.3054T>A (p.Pro1018=) c.2391T>A (p.Pro797=) c.6906T>A (p.Pro2302=) n.8429T>A | |
5 | g.13792139G>A | CA113960212 | DNAH5 | c.8303C>T (p.Pro2768Leu) c.8258C>T (p.Pro2753Leu) n.8510C>T c.8411C>T (p.Pro2804Leu) c.7316C>T (p.Pro2439Leu) c.3500C>T (p.Pro1167Leu) c.3053C>T (p.Pro1018Leu) c.2390C>T (p.Pro797Leu) c.6905C>T (p.Pro2302Leu) n.8428C>T | dbSNP gnomAD v4 COSMIC |
5 | g.13792139G>C | CA359219443 | DNAH5 | c.8303C>G (p.Pro2768Arg) c.8258C>G (p.Pro2753Arg) n.8510C>G c.8411C>G (p.Pro2804Arg) c.7316C>G (p.Pro2439Arg) c.3500C>G (p.Pro1167Arg) c.3053C>G (p.Pro1018Arg) c.2390C>G (p.Pro797Arg) c.6905C>G (p.Pro2302Arg) n.8428C>G | |
5 | g.13792139G= | CA1528440985 | DNAH5 | c.8303C= (p.Pro2768=) c.8258C= (p.Pro2753=) n.8510C= c.8411C= (p.Pro2804=) c.7316C= (p.Pro2439=) c.3500C= (p.Pro1167=) c.3053C= (p.Pro1018=) c.2390C= (p.Pro797=) c.6905C= (p.Pro2302=) n.8428C= | |
5 | g.13792139G>T | CA359219444 | DNAH5 | c.8303C>A (p.Pro2768His) c.8258C>A (p.Pro2753His) n.8510C>A c.8411C>A (p.Pro2804His) c.7316C>A (p.Pro2439His) c.3500C>A (p.Pro1167His) c.3053C>A (p.Pro1018His) c.2390C>A (p.Pro797His) c.6905C>A (p.Pro2302His) n.8428C>A | |
5 | g.13792140G>A | CA359219447 | DNAH5 | c.8302C>T (p.Pro2768Ser) c.8257C>T (p.Pro2753Ser) n.8509C>T c.8410C>T (p.Pro2804Ser) c.7315C>T (p.Pro2439Ser) c.3499C>T (p.Pro1167Ser) c.3052C>T (p.Pro1018Ser) c.2389C>T (p.Pro797Ser) c.6904C>T (p.Pro2302Ser) n.8427C>T | |
5 | g.13792140G>C | CA359219449 | DNAH5 | c.8302C>G (p.Pro2768Ala) c.8257C>G (p.Pro2753Ala) n.8509C>G c.8410C>G (p.Pro2804Ala) c.7315C>G (p.Pro2439Ala) c.3499C>G (p.Pro1167Ala) c.3052C>G (p.Pro1018Ala) c.2389C>G (p.Pro797Ala) c.6904C>G (p.Pro2302Ala) n.8427C>G | |
5 | g.13792140G= | CA1528440986 | DNAH5 | c.8302C= (p.Pro2768=) c.8257C= (p.Pro2753=) n.8509C= c.8410C= (p.Pro2804=) c.7315C= (p.Pro2439=) c.3499C= (p.Pro1167=) c.3052C= (p.Pro1018=) c.2389C= (p.Pro797=) c.6904C= (p.Pro2302=) n.8427C= | |
5 | g.13792140G>T | CA3202848 | DNAH5 | c.8302C>A (p.Pro2768Thr) c.8257C>A (p.Pro2753Thr) n.8509C>A c.8410C>A (p.Pro2804Thr) c.7315C>A (p.Pro2439Thr) c.3499C>A (p.Pro1167Thr) c.3052C>A (p.Pro1018Thr) c.2389C>A (p.Pro797Thr) c.6904C>A (p.Pro2302Thr) n.8427C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13792141C>A | CA443263554 | DNAH5 | c.8301G>T (p.Val2767=) c.8256G>T (p.Val2752=) n.8508G>T c.8409G>T (p.Val2803=) c.7314G>T (p.Val2438=) c.3498G>T (p.Val1166=) c.3051G>T (p.Val1017=) c.2388G>T (p.Val796=) c.6903G>T (p.Val2301=) n.8426G>T | ClinVar |
5 | g.13792141C>G | CA443263556 | DNAH5 | c.8301G>C (p.Val2767=) c.8256G>C (p.Val2752=) n.8508G>C c.8409G>C (p.Val2803=) c.7314G>C (p.Val2438=) c.3498G>C (p.Val1166=) c.3051G>C (p.Val1017=) c.2388G>C (p.Val796=) c.6903G>C (p.Val2301=) n.8426G>C | |
5 | g.13792141C>T | CA443263557 | DNAH5 | c.8301G>A (p.Val2767=) c.8256G>A (p.Val2752=) n.8508G>A c.8409G>A (p.Val2803=) c.7314G>A (p.Val2438=) c.3498G>A (p.Val1166=) c.3051G>A (p.Val1017=) c.2388G>A (p.Val796=) c.6903G>A (p.Val2301=) n.8426G>A | ClinVar gnomAD v4 |
5 | g.13792142A>C | CA359219453 | DNAH5 | c.8300T>G (p.Val2767Gly) c.8255T>G (p.Val2752Gly) n.8507T>G c.8408T>G (p.Val2803Gly) c.7313T>G (p.Val2438Gly) c.3497T>G (p.Val1166Gly) c.3050T>G (p.Val1017Gly) c.2387T>G (p.Val796Gly) c.6902T>G (p.Val2301Gly) n.8425T>G | |
5 | g.13792142A>G | CA359219455 | DNAH5 | c.8300T>C (p.Val2767Ala) c.8255T>C (p.Val2752Ala) n.8507T>C c.8408T>C (p.Val2803Ala) c.7313T>C (p.Val2438Ala) c.3497T>C (p.Val1166Ala) c.3050T>C (p.Val1017Ala) c.2387T>C (p.Val796Ala) c.6902T>C (p.Val2301Ala) n.8425T>C | |
5 | g.13792142A>T | CA359219456 | DNAH5 | c.8300T>A (p.Val2767Glu) c.8255T>A (p.Val2752Glu) n.8507T>A c.8408T>A (p.Val2803Glu) c.7313T>A (p.Val2438Glu) c.3497T>A (p.Val1166Glu) c.3050T>A (p.Val1017Glu) c.2387T>A (p.Val796Glu) c.6902T>A (p.Val2301Glu) n.8425T>A | |
5 | g.13792143C>A | CA359219458 | DNAH5 | c.8299G>T (p.Val2767Leu) c.8254G>T (p.Val2752Leu) n.8506G>T c.8407G>T (p.Val2803Leu) c.7312G>T (p.Val2438Leu) c.3496G>T (p.Val1166Leu) c.3049G>T (p.Val1017Leu) c.2386G>T (p.Val796Leu) c.6901G>T (p.Val2301Leu) n.8424G>T | |
5 | g.13792143C>G | CA359219459 | DNAH5 | c.8299G>C (p.Val2767Leu) c.8254G>C (p.Val2752Leu) n.8506G>C c.8407G>C (p.Val2803Leu) c.7312G>C (p.Val2438Leu) c.3496G>C (p.Val1166Leu) c.3049G>C (p.Val1017Leu) c.2386G>C (p.Val796Leu) c.6901G>C (p.Val2301Leu) n.8424G>C | |
5 | g.13792143C>T | CA359219461 | DNAH5 | c.8299G>A (p.Val2767Met) c.8254G>A (p.Val2752Met) n.8506G>A c.8407G>A (p.Val2803Met) c.7312G>A (p.Val2438Met) c.3496G>A (p.Val1166Met) c.3049G>A (p.Val1017Met) c.2386G>A (p.Val796Met) c.6901G>A (p.Val2301Met) n.8424G>A | |
5 | g.13792144C>A | CA3202849 | DNAH5 | c.8298G>T (p.Leu2766Phe) c.8253G>T (p.Leu2751Phe) n.8505G>T c.8406G>T (p.Leu2802Phe) c.7311G>T (p.Leu2437Phe) c.3495G>T (p.Leu1165Phe) c.3048G>T (p.Leu1016Phe) c.2385G>T (p.Leu795Phe) c.6900G>T (p.Leu2300Phe) n.8423G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792144C= | CA1528440987 | DNAH5 | c.8298G= (p.Leu2766=) c.8253G= (p.Leu2751=) n.8505G= c.8406G= (p.Leu2802=) c.7311G= (p.Leu2437=) c.3495G= (p.Leu1165=) c.3048G= (p.Leu1016=) c.2385G= (p.Leu795=) c.6900G= (p.Leu2300=) n.8423G= | |
5 | g.13792144C>G | CA359219477 | DNAH5 | c.8298G>C (p.Leu2766Phe) c.8253G>C (p.Leu2751Phe) n.8505G>C c.8406G>C (p.Leu2802Phe) c.7311G>C (p.Leu2437Phe) c.3495G>C (p.Leu1165Phe) c.3048G>C (p.Leu1016Phe) c.2385G>C (p.Leu795Phe) c.6900G>C (p.Leu2300Phe) n.8423G>C | |
5 | g.13792144C>T | CA443263573 | DNAH5 | c.8298G>A (p.Leu2766=) c.8253G>A (p.Leu2751=) n.8505G>A c.8406G>A (p.Leu2802=) c.7311G>A (p.Leu2437=) c.3495G>A (p.Leu1165=) c.3048G>A (p.Leu1016=) c.2385G>A (p.Leu795=) c.6900G>A (p.Leu2300=) n.8423G>A | |
5 | g.13792145A= | CA1528440988 | DNAH5 | c.8297T= (p.Leu2766=) c.8252T= (p.Leu2751=) n.8504T= c.8405T= (p.Leu2802=) c.7310T= (p.Leu2437=) c.3494T= (p.Leu1165=) c.3047T= (p.Leu1016=) c.2384T= (p.Leu795=) c.6899T= (p.Leu2300=) n.8422T= | |
5 | g.13792145A>C | CA359219481 | DNAH5 | c.8297T>G (p.Leu2766Trp) c.8252T>G (p.Leu2751Trp) n.8504T>G c.8405T>G (p.Leu2802Trp) c.7310T>G (p.Leu2437Trp) c.3494T>G (p.Leu1165Trp) c.3047T>G (p.Leu1016Trp) c.2384T>G (p.Leu795Trp) c.6899T>G (p.Leu2300Trp) n.8422T>G | |
5 | g.13792145A>G | CA359219483 | DNAH5 | c.8297T>C (p.Leu2766Ser) c.8252T>C (p.Leu2751Ser) n.8504T>C c.8405T>C (p.Leu2802Ser) c.7310T>C (p.Leu2437Ser) c.3494T>C (p.Leu1165Ser) c.3047T>C (p.Leu1016Ser) c.2384T>C (p.Leu795Ser) c.6899T>C (p.Leu2300Ser) n.8422T>C | |
5 | g.13792145A>T | CA359219480 | DNAH5 | c.8297T>A (p.Leu2766Ter) c.8252T>A (p.Leu2751Ter) n.8504T>A c.8405T>A (p.Leu2802Ter) c.7310T>A (p.Leu2437Ter) c.3494T>A (p.Leu1165Ter) c.3047T>A (p.Leu1016Ter) c.2384T>A (p.Leu795Ter) c.6899T>A (p.Leu2300Ter) n.8422T>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792146A= | CA1528440989 | DNAH5 | c.8296T= (p.Leu2766=) c.8251T= (p.Leu2751=) n.8503T= c.8404T= (p.Leu2802=) c.7309T= (p.Leu2437=) c.3493T= (p.Leu1165=) c.3046T= (p.Leu1016=) c.2383T= (p.Leu795=) c.6898T= (p.Leu2300=) n.8421T= | |
5 | g.13792146A>C | CA359219485 | DNAH5 | c.8296T>G (p.Leu2766Val) c.8251T>G (p.Leu2751Val) n.8503T>G c.8404T>G (p.Leu2802Val) c.7309T>G (p.Leu2437Val) c.3493T>G (p.Leu1165Val) c.3046T>G (p.Leu1016Val) c.2383T>G (p.Leu795Val) c.6898T>G (p.Leu2300Val) n.8421T>G | |
5 | g.13792146A>G | CA3202850 | DNAH5 | c.8296T>C (p.Leu2766=) c.8251T>C (p.Leu2751=) n.8503T>C c.8404T>C (p.Leu2802=) c.7309T>C (p.Leu2437=) c.3493T>C (p.Leu1165=) c.3046T>C (p.Leu1016=) c.2383T>C (p.Leu795=) c.6898T>C (p.Leu2300=) n.8421T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792146A>T | CA359219486 | DNAH5 | c.8296T>A (p.Leu2766Met) c.8251T>A (p.Leu2751Met) n.8503T>A c.8404T>A (p.Leu2802Met) c.7309T>A (p.Leu2437Met) c.3493T>A (p.Leu1165Met) c.3046T>A (p.Leu1016Met) c.2383T>A (p.Leu795Met) c.6898T>A (p.Leu2300Met) n.8421T>A | |
5 | g.13792147T>A | CA359219487 | DNAH5 | c.8295A>T (p.Lys2765Asn) c.8250A>T (p.Lys2750Asn) n.8502A>T c.8403A>T (p.Lys2801Asn) c.7308A>T (p.Lys2436Asn) c.3492A>T (p.Lys1164Asn) c.3045A>T (p.Lys1015Asn) c.2382A>T (p.Lys794Asn) c.6897A>T (p.Lys2299Asn) n.8420A>T | |
5 | g.13792147T>C | CA443263589 | DNAH5 | c.8295A>G (p.Lys2765=) c.8250A>G (p.Lys2750=) n.8502A>G c.8403A>G (p.Lys2801=) c.7308A>G (p.Lys2436=) c.3492A>G (p.Lys1164=) c.3045A>G (p.Lys1015=) c.2382A>G (p.Lys794=) c.6897A>G (p.Lys2299=) n.8420A>G | |
5 | g.13792147T>G | CA359219488 | DNAH5 | c.8295A>C (p.Lys2765Asn) c.8250A>C (p.Lys2750Asn) n.8502A>C c.8403A>C (p.Lys2801Asn) c.7308A>C (p.Lys2436Asn) c.3492A>C (p.Lys1164Asn) c.3045A>C (p.Lys1015Asn) c.2382A>C (p.Lys794Asn) c.6897A>C (p.Lys2299Asn) n.8420A>C | |
5 | g.13792148T>A | CA359219495 | DNAH5 | c.8294A>T (p.Lys2765Ile) c.8249A>T (p.Lys2750Ile) n.8501A>T c.8402A>T (p.Lys2801Ile) c.7307A>T (p.Lys2436Ile) c.3491A>T (p.Lys1164Ile) c.3044A>T (p.Lys1015Ile) c.2381A>T (p.Lys794Ile) c.6896A>T (p.Lys2299Ile) n.8419A>T | |
5 | g.13792148T>C | CA359219494 | DNAH5 | c.8294A>G (p.Lys2765Arg) c.8249A>G (p.Lys2750Arg) n.8501A>G c.8402A>G (p.Lys2801Arg) c.7307A>G (p.Lys2436Arg) c.3491A>G (p.Lys1164Arg) c.3044A>G (p.Lys1015Arg) c.2381A>G (p.Lys794Arg) c.6896A>G (p.Lys2299Arg) n.8419A>G | |
5 | g.13792148T>G | CA359219490 | DNAH5 | c.8294A>C (p.Lys2765Thr) c.8249A>C (p.Lys2750Thr) n.8501A>C c.8402A>C (p.Lys2801Thr) c.7307A>C (p.Lys2436Thr) c.3491A>C (p.Lys1164Thr) c.3044A>C (p.Lys1015Thr) c.2381A>C (p.Lys794Thr) c.6896A>C (p.Lys2299Thr) n.8419A>C | |
5 | g.13792149T>A | CA359219497 | DNAH5 | c.8293A>T (p.Lys2765Ter) c.8248A>T (p.Lys2750Ter) n.8500A>T c.8401A>T (p.Lys2801Ter) c.7306A>T (p.Lys2436Ter) c.3490A>T (p.Lys1164Ter) c.3043A>T (p.Lys1015Ter) c.2380A>T (p.Lys794Ter) c.6895A>T (p.Lys2299Ter) n.8418A>T | |
5 | g.13792149T>C | CA359219502 | DNAH5 | c.8293A>G (p.Lys2765Glu) c.8248A>G (p.Lys2750Glu) n.8500A>G c.8401A>G (p.Lys2801Glu) c.7306A>G (p.Lys2436Glu) c.3490A>G (p.Lys1164Glu) c.3043A>G (p.Lys1015Glu) c.2380A>G (p.Lys794Glu) c.6895A>G (p.Lys2299Glu) n.8418A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792149T>G | CA359219505 | DNAH5 | c.8293A>C (p.Lys2765Gln) c.8248A>C (p.Lys2750Gln) n.8500A>C c.8401A>C (p.Lys2801Gln) c.7306A>C (p.Lys2436Gln) c.3490A>C (p.Lys1164Gln) c.3043A>C (p.Lys1015Gln) c.2380A>C (p.Lys794Gln) c.6895A>C (p.Lys2299Gln) n.8418A>C | |
5 | g.13792149T= | CA1528440990 | DNAH5 | c.8293A= (p.Lys2765=) c.8248A= (p.Lys2750=) n.8500A= c.8401A= (p.Lys2801=) c.7306A= (p.Lys2436=) c.3490A= (p.Lys1164=) c.3043A= (p.Lys1015=) c.2380A= (p.Lys794=) c.6895A= (p.Lys2299=) n.8418A= | |
5 | g.13792149_13792151delinsTTG | CA1528440991 | DNAH5 | c.8291_8293delinsCAA (p.Thr2764=) c.8246_8248delinsCAA (p.Thr2749=) n.8498_8500delinsCAA c.8399_8401delinsCAA (p.Thr2800=) c.7304_7306delinsCAA (p.Thr2435=) c.3488_3490delinsCAA (p.Thr1163=) c.3041_3043delinsCAA (p.Thr1014=) c.2378_2380delinsCAA (p.Thr793=) c.6893_6895delinsCAA (p.Thr2298=) n.8416_8418delinsCAA | |
5 | g.13792150T>A | CA443263604 | DNAH5 | c.8292A>T (p.Thr2764=) c.8247A>T (p.Thr2749=) n.8499A>T c.8400A>T (p.Thr2800=) c.7305A>T (p.Thr2435=) c.3489A>T (p.Thr1163=) c.3042A>T (p.Thr1014=) c.2379A>T (p.Thr793=) c.6894A>T (p.Thr2298=) n.8417A>T | |
5 | g.13792150T>C | CA443263606 | DNAH5 | c.8292A>G (p.Thr2764=) c.8247A>G (p.Thr2749=) n.8499A>G c.8400A>G (p.Thr2800=) c.7305A>G (p.Thr2435=) c.3489A>G (p.Thr1163=) c.3042A>G (p.Thr1014=) c.2379A>G (p.Thr793=) c.6894A>G (p.Thr2298=) n.8417A>G | |
5 | g.13792150T>G | CA443263609 | DNAH5 | c.8292A>C (p.Thr2764=) c.8247A>C (p.Thr2749=) n.8499A>C c.8400A>C (p.Thr2800=) c.7305A>C (p.Thr2435=) c.3489A>C (p.Thr1163=) c.3042A>C (p.Thr1014=) c.2379A>C (p.Thr793=) c.6894A>C (p.Thr2298=) n.8417A>C | |
5 | g.13792151_13792152del | CA917418314 | DNAH5 | c.8291_8292del (p.Thr2764LysfsTer16) c.8246_8247del (p.Thr2749LysfsTer16) n.8498_8499del c.8399_8400del (p.Thr2800LysfsTer16) c.7304_7305del (p.Thr2435LysfsTer16) c.3488_3489del (p.Thr1163LysfsTer16) c.3041_3042del (p.Thr1014LysfsTer16) c.2378_2379del (p.Thr793LysfsTer16) c.6893_6894del (p.Thr2298LysfsTer16) n.8416_8417del | dbSNP gnomAD v4 |
5 | g.13792151G>A | CA359219507 | DNAH5 | c.8291C>T (p.Thr2764Ile) c.8246C>T (p.Thr2749Ile) n.8498C>T c.8399C>T (p.Thr2800Ile) c.7304C>T (p.Thr2435Ile) c.3488C>T (p.Thr1163Ile) c.3041C>T (p.Thr1014Ile) c.2378C>T (p.Thr793Ile) c.6893C>T (p.Thr2298Ile) n.8416C>T | |
5 | g.13792151G>C | CA359219510 | DNAH5 | c.8291C>G (p.Thr2764Arg) c.8246C>G (p.Thr2749Arg) n.8498C>G c.8399C>G (p.Thr2800Arg) c.7304C>G (p.Thr2435Arg) c.3488C>G (p.Thr1163Arg) c.3041C>G (p.Thr1014Arg) c.2378C>G (p.Thr793Arg) c.6893C>G (p.Thr2298Arg) n.8416C>G | |
5 | g.13792151G>T | CA359219512 | DNAH5 | c.8291C>A (p.Thr2764Lys) c.8246C>A (p.Thr2749Lys) n.8498C>A c.8399C>A (p.Thr2800Lys) c.7304C>A (p.Thr2435Lys) c.3488C>A (p.Thr1163Lys) c.3041C>A (p.Thr1014Lys) c.2378C>A (p.Thr793Lys) c.6893C>A (p.Thr2298Lys) n.8416C>A | gnomAD v4 |
5 | g.13792152T>A | CA359219513 | DNAH5 | c.8290A>T (p.Thr2764Ser) c.8245A>T (p.Thr2749Ser) n.8497A>T c.8398A>T (p.Thr2800Ser) c.7303A>T (p.Thr2435Ser) c.3487A>T (p.Thr1163Ser) c.3040A>T (p.Thr1014Ser) c.2377A>T (p.Thr793Ser) c.6892A>T (p.Thr2298Ser) n.8415A>T | |
5 | g.13792152T>C | CA359219516 | DNAH5 | c.8290A>G (p.Thr2764Ala) c.8245A>G (p.Thr2749Ala) n.8497A>G c.8398A>G (p.Thr2800Ala) c.7303A>G (p.Thr2435Ala) c.3487A>G (p.Thr1163Ala) c.3040A>G (p.Thr1014Ala) c.2377A>G (p.Thr793Ala) c.6892A>G (p.Thr2298Ala) n.8415A>G | dbSNP gnomAD v2 |
5 | g.13792152T>G | CA359219515 | DNAH5 | c.8290A>C (p.Thr2764Pro) c.8245A>C (p.Thr2749Pro) n.8497A>C c.8398A>C (p.Thr2800Pro) c.7303A>C (p.Thr2435Pro) c.3487A>C (p.Thr1163Pro) c.3040A>C (p.Thr1014Pro) c.2377A>C (p.Thr793Pro) c.6892A>C (p.Thr2298Pro) n.8415A>C | |
5 | g.13792152T= | CA1528440992 | DNAH5 | c.8290A= (p.Thr2764=) c.8245A= (p.Thr2749=) n.8497A= c.8398A= (p.Thr2800=) c.7303A= (p.Thr2435=) c.3487A= (p.Thr1163=) c.3040A= (p.Thr1014=) c.2377A= (p.Thr793=) c.6892A= (p.Thr2298=) n.8415A= | |
5 | g.13792153C>A | CA443263622 | DNAH5 | c.8289G>T (p.Val2763=) c.8244G>T (p.Val2748=) n.8496G>T c.8397G>T (p.Val2799=) c.7302G>T (p.Val2434=) c.3486G>T (p.Val1162=) c.3039G>T (p.Val1013=) c.2376G>T (p.Val792=) c.6891G>T (p.Val2297=) n.8414G>T | |
5 | g.13792153C>G | CA443263624 | DNAH5 | c.8289G>C (p.Val2763=) c.8244G>C (p.Val2748=) n.8496G>C c.8397G>C (p.Val2799=) c.7302G>C (p.Val2434=) c.3486G>C (p.Val1162=) c.3039G>C (p.Val1013=) c.2376G>C (p.Val792=) c.6891G>C (p.Val2297=) n.8414G>C | |
5 | g.13792153C>T | CA443263626 | DNAH5 | c.8289G>A (p.Val2763=) c.8244G>A (p.Val2748=) n.8496G>A c.8397G>A (p.Val2799=) c.7302G>A (p.Val2434=) c.3486G>A (p.Val1162=) c.3039G>A (p.Val1013=) c.2376G>A (p.Val792=) c.6891G>A (p.Val2297=) n.8414G>A | |
5 | g.13792154A>C | CA359219517 | DNAH5 | c.8288T>G (p.Val2763Gly) c.8243T>G (p.Val2748Gly) n.8495T>G c.8396T>G (p.Val2799Gly) c.7301T>G (p.Val2434Gly) c.3485T>G (p.Val1162Gly) c.3038T>G (p.Val1013Gly) c.2375T>G (p.Val792Gly) c.6890T>G (p.Val2297Gly) n.8413T>G | |
5 | g.13792154A>G | CA359219518 | DNAH5 | c.8288T>C (p.Val2763Ala) c.8243T>C (p.Val2748Ala) n.8495T>C c.8396T>C (p.Val2799Ala) c.7301T>C (p.Val2434Ala) c.3485T>C (p.Val1162Ala) c.3038T>C (p.Val1013Ala) c.2375T>C (p.Val792Ala) c.6890T>C (p.Val2297Ala) n.8413T>C | |
5 | g.13792154A>T | CA359219519 | DNAH5 | c.8288T>A (p.Val2763Glu) c.8243T>A (p.Val2748Glu) n.8495T>A c.8396T>A (p.Val2799Glu) c.7301T>A (p.Val2434Glu) c.3485T>A (p.Val1162Glu) c.3038T>A (p.Val1013Glu) c.2375T>A (p.Val792Glu) c.6890T>A (p.Val2297Glu) n.8413T>A | |
5 | g.13792155C>A | CA359219521 | DNAH5 | c.8287G>T (p.Val2763Leu) c.8242G>T (p.Val2748Leu) n.8494G>T c.8395G>T (p.Val2799Leu) c.7300G>T (p.Val2434Leu) c.3484G>T (p.Val1162Leu) c.3037G>T (p.Val1013Leu) c.2374G>T (p.Val792Leu) c.6889G>T (p.Val2297Leu) n.8412G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792155C= | CA1528440993 | DNAH5 | c.8287G= (p.Val2763=) c.8242G= (p.Val2748=) n.8494G= c.8395G= (p.Val2799=) c.7300G= (p.Val2434=) c.3484G= (p.Val1162=) c.3037G= (p.Val1013=) c.2374G= (p.Val792=) c.6889G= (p.Val2297=) n.8412G= | |
5 | g.13792155C>G | CA359219523 | DNAH5 | c.8287G>C (p.Val2763Leu) c.8242G>C (p.Val2748Leu) n.8494G>C c.8395G>C (p.Val2799Leu) c.7300G>C (p.Val2434Leu) c.3484G>C (p.Val1162Leu) c.3037G>C (p.Val1013Leu) c.2374G>C (p.Val792Leu) c.6889G>C (p.Val2297Leu) n.8412G>C | |
5 | g.13792155C>T | CA359219526 | DNAH5 | c.8287G>A (p.Val2763Met) c.8242G>A (p.Val2748Met) n.8494G>A c.8395G>A (p.Val2799Met) c.7300G>A (p.Val2434Met) c.3484G>A (p.Val1162Met) c.3037G>A (p.Val1013Met) c.2374G>A (p.Val792Met) c.6889G>A (p.Val2297Met) n.8412G>A | |
5 | g.13792156A= | CA1528440995 | DNAH5 | c.8286T= (p.Ser2762=) c.8241T= (p.Ser2747=) n.8493T= c.8394T= (p.Ser2798=) c.7299T= (p.Ser2433=) c.3483T= (p.Ser1161=) c.3036T= (p.Ser1012=) c.2373T= (p.Ser791=) c.6888T= (p.Ser2296=) n.8411T= | |
5 | g.13792156A>C | CA443263639 | DNAH5 | c.8286T>G (p.Ser2762=) c.8241T>G (p.Ser2747=) n.8493T>G c.8394T>G (p.Ser2798=) c.7299T>G (p.Ser2433=) c.3483T>G (p.Ser1161=) c.3036T>G (p.Ser1012=) c.2373T>G (p.Ser791=) c.6888T>G (p.Ser2296=) n.8411T>G | |
5 | g.13792156A>G | CA443263636 | DNAH5 | c.8286T>C (p.Ser2762=) c.8241T>C (p.Ser2747=) n.8493T>C c.8394T>C (p.Ser2798=) c.7299T>C (p.Ser2433=) c.3483T>C (p.Ser1161=) c.3036T>C (p.Ser1012=) c.2373T>C (p.Ser791=) c.6888T>C (p.Ser2296=) n.8411T>C | ClinVar dbSNP |
5 | g.13792156A>T | CA443263634 | DNAH5 | c.8286T>A (p.Ser2762=) c.8241T>A (p.Ser2747=) n.8493T>A c.8394T>A (p.Ser2798=) c.7299T>A (p.Ser2433=) c.3483T>A (p.Ser1161=) c.3036T>A (p.Ser1012=) c.2373T>A (p.Ser791=) c.6888T>A (p.Ser2296=) n.8411T>A | |
5 | g.13792156_13792157delinsAG | CA1528440994 | DNAH5 | c.8285_8286delinsCT (p.Ser2762=) c.8240_8241delinsCT (p.Ser2747=) n.8492_8493delinsCT c.8393_8394delinsCT (p.Ser2798=) c.7298_7299delinsCT (p.Ser2433=) c.3482_3483delinsCT (p.Ser1161=) c.3035_3036delinsCT (p.Ser1012=) c.2372_2373delinsCT (p.Ser791=) c.6887_6888delinsCT (p.Ser2296=) n.8410_8411delinsCT | |
5 | g.13792157del | CA804442109 | DNAH5 | c.8285del (p.Ser2762LeufsTer2) c.8240del (p.Ser2747LeufsTer2) n.8492del c.8393del (p.Ser2798LeufsTer2) c.7298del (p.Ser2433LeufsTer2) c.3482del (p.Ser1161LeufsTer2) c.3035del (p.Ser1012LeufsTer2) c.2372del (p.Ser791LeufsTer2) c.6887del (p.Ser2296LeufsTer2) n.8410del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792157G>A | CA359219530 | DNAH5 | c.8285C>T (p.Ser2762Phe) c.8240C>T (p.Ser2747Phe) n.8492C>T c.8393C>T (p.Ser2798Phe) c.7298C>T (p.Ser2433Phe) c.3482C>T (p.Ser1161Phe) c.3035C>T (p.Ser1012Phe) c.2372C>T (p.Ser791Phe) c.6887C>T (p.Ser2296Phe) n.8410C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792157G>C | CA359219532 | DNAH5 | c.8285C>G (p.Ser2762Cys) c.8240C>G (p.Ser2747Cys) n.8492C>G c.8393C>G (p.Ser2798Cys) c.7298C>G (p.Ser2433Cys) c.3482C>G (p.Ser1161Cys) c.3035C>G (p.Ser1012Cys) c.2372C>G (p.Ser791Cys) c.6887C>G (p.Ser2296Cys) n.8410C>G | |
5 | g.13792157G= | CA1528440996 | DNAH5 | c.8285C= (p.Ser2762=) c.8240C= (p.Ser2747=) n.8492C= c.8393C= (p.Ser2798=) c.7298C= (p.Ser2433=) c.3482C= (p.Ser1161=) c.3035C= (p.Ser1012=) c.2372C= (p.Ser791=) c.6887C= (p.Ser2296=) n.8410C= | |
5 | g.13792157G>T | CA359219533 | DNAH5 | c.8285C>A (p.Ser2762Tyr) c.8240C>A (p.Ser2747Tyr) n.8492C>A c.8393C>A (p.Ser2798Tyr) c.7298C>A (p.Ser2433Tyr) c.3482C>A (p.Ser1161Tyr) c.3035C>A (p.Ser1012Tyr) c.2372C>A (p.Ser791Tyr) c.6887C>A (p.Ser2296Tyr) n.8410C>A | |
5 | g.13792158A>C | CA359219535 | DNAH5 | c.8284T>G (p.Ser2762Ala) c.8239T>G (p.Ser2747Ala) n.8491T>G c.8392T>G (p.Ser2798Ala) c.7297T>G (p.Ser2433Ala) c.3481T>G (p.Ser1161Ala) c.3034T>G (p.Ser1012Ala) c.2371T>G (p.Ser791Ala) c.6886T>G (p.Ser2296Ala) n.8409T>G | |
5 | g.13792158A>G | CA359219536 | DNAH5 | c.8284T>C (p.Ser2762Pro) c.8239T>C (p.Ser2747Pro) n.8491T>C c.8392T>C (p.Ser2798Pro) c.7297T>C (p.Ser2433Pro) c.3481T>C (p.Ser1161Pro) c.3034T>C (p.Ser1012Pro) c.2371T>C (p.Ser791Pro) c.6886T>C (p.Ser2296Pro) n.8409T>C | |
5 | g.13792158A>T | CA359219537 | DNAH5 | c.8284T>A (p.Ser2762Thr) c.8239T>A (p.Ser2747Thr) n.8491T>A c.8392T>A (p.Ser2798Thr) c.7297T>A (p.Ser2433Thr) c.3481T>A (p.Ser1161Thr) c.3034T>A (p.Ser1012Thr) c.2371T>A (p.Ser791Thr) c.6886T>A (p.Ser2296Thr) n.8409T>A | |
5 | g.13792159A>C | CA359219542 | DNAH5 | c.8283T>G (p.Asp2761Glu) c.8238T>G (p.Asp2746Glu) n.8490T>G c.8391T>G (p.Asp2797Glu) c.7296T>G (p.Asp2432Glu) c.3480T>G (p.Asp1160Glu) c.3033T>G (p.Asp1011Glu) c.2370T>G (p.Asp790Glu) c.6885T>G (p.Asp2295Glu) n.8408T>G | |
5 | g.13792159A>G | CA443263652 | DNAH5 | c.8283T>C (p.Asp2761=) c.8238T>C (p.Asp2746=) n.8490T>C c.8391T>C (p.Asp2797=) c.7296T>C (p.Asp2432=) c.3480T>C (p.Asp1160=) c.3033T>C (p.Asp1011=) c.2370T>C (p.Asp790=) c.6885T>C (p.Asp2295=) n.8408T>C | gnomAD v4 |
5 | g.13792159A>T | CA359219540 | DNAH5 | c.8283T>A (p.Asp2761Glu) c.8238T>A (p.Asp2746Glu) n.8490T>A c.8391T>A (p.Asp2797Glu) c.7296T>A (p.Asp2432Glu) c.3480T>A (p.Asp1160Glu) c.3033T>A (p.Asp1011Glu) c.2370T>A (p.Asp790Glu) c.6885T>A (p.Asp2295Glu) n.8408T>A | |
5 | g.13792160T>A | CA359219543 | DNAH5 | c.8282A>T (p.Asp2761Val) c.8237A>T (p.Asp2746Val) n.8489A>T c.8390A>T (p.Asp2797Val) c.7295A>T (p.Asp2432Val) c.3479A>T (p.Asp1160Val) c.3032A>T (p.Asp1011Val) c.2369A>T (p.Asp790Val) c.6884A>T (p.Asp2295Val) n.8407A>T | |
5 | g.13792160T>C | CA359219549 | DNAH5 | c.8282A>G (p.Asp2761Gly) c.8237A>G (p.Asp2746Gly) n.8489A>G c.8390A>G (p.Asp2797Gly) c.7295A>G (p.Asp2432Gly) c.3479A>G (p.Asp1160Gly) c.3032A>G (p.Asp1011Gly) c.2369A>G (p.Asp790Gly) c.6884A>G (p.Asp2295Gly) n.8407A>G | |
5 | g.13792160T>G | CA359219546 | DNAH5 | c.8282A>C (p.Asp2761Ala) c.8237A>C (p.Asp2746Ala) n.8489A>C c.8390A>C (p.Asp2797Ala) c.7295A>C (p.Asp2432Ala) c.3479A>C (p.Asp1160Ala) c.3032A>C (p.Asp1011Ala) c.2369A>C (p.Asp790Ala) c.6884A>C (p.Asp2295Ala) n.8407A>C | |
5 | g.13792162_13792165del | CA2673271069 | DNAH5 | c.8279_8282del (p.Arg2760IlefsTer3) c.8234_8237del (p.Arg2745IlefsTer3) n.8486_8489del c.8387_8390del (p.Arg2796IlefsTer3) c.7292_7295del (p.Arg2431IlefsTer3) c.3476_3479del (p.Arg1159IlefsTer3) c.3029_3032del (p.Arg1010IlefsTer3) c.2366_2369del (p.Arg789IlefsTer3) c.6881_6884del (p.Arg2294IlefsTer3) n.8404_8407del | gnomAD v4 |
5 | g.13792161C>A | CA359219552 | DNAH5 | c.8281G>T (p.Asp2761Tyr) c.8236G>T (p.Asp2746Tyr) n.8488G>T c.8389G>T (p.Asp2797Tyr) c.7294G>T (p.Asp2432Tyr) c.3478G>T (p.Asp1160Tyr) c.3031G>T (p.Asp1011Tyr) c.2368G>T (p.Asp790Tyr) c.6883G>T (p.Asp2295Tyr) n.8406G>T | gnomAD v4 COSMIC |
5 | g.13792161C>G | CA359219557 | DNAH5 | c.8281G>C (p.Asp2761His) c.8236G>C (p.Asp2746His) n.8488G>C c.8389G>C (p.Asp2797His) c.7294G>C (p.Asp2432His) c.3478G>C (p.Asp1160His) c.3031G>C (p.Asp1011His) c.2368G>C (p.Asp790His) c.6883G>C (p.Asp2295His) n.8406G>C | |
5 | g.13792161C>T | CA359219555 | DNAH5 | c.8281G>A (p.Asp2761Asn) c.8236G>A (p.Asp2746Asn) n.8488G>A c.8389G>A (p.Asp2797Asn) c.7294G>A (p.Asp2432Asn) c.3478G>A (p.Asp1160Asn) c.3031G>A (p.Asp1011Asn) c.2368G>A (p.Asp790Asn) c.6883G>A (p.Asp2295Asn) n.8406G>A | |
5 | g.13792162T>A | CA359219560 | DNAH5 | c.8280A>T (p.Arg2760Ser) c.8235A>T (p.Arg2745Ser) n.8487A>T c.8388A>T (p.Arg2796Ser) c.7293A>T (p.Arg2431Ser) c.3477A>T (p.Arg1159Ser) c.3030A>T (p.Arg1010Ser) c.2367A>T (p.Arg789Ser) c.6882A>T (p.Arg2294Ser) n.8405A>T | |
5 | g.13792162T>C | CA443263674 | DNAH5 | c.8280A>G (p.Arg2760=) c.8235A>G (p.Arg2745=) n.8487A>G c.8388A>G (p.Arg2796=) c.7293A>G (p.Arg2431=) c.3477A>G (p.Arg1159=) c.3030A>G (p.Arg1010=) c.2367A>G (p.Arg789=) c.6882A>G (p.Arg2294=) n.8405A>G | COSMIC |
5 | g.13792162T>G | CA359219561 | DNAH5 | c.8280A>C (p.Arg2760Ser) c.8235A>C (p.Arg2745Ser) n.8487A>C c.8388A>C (p.Arg2796Ser) c.7293A>C (p.Arg2431Ser) c.3477A>C (p.Arg1159Ser) c.3030A>C (p.Arg1010Ser) c.2367A>C (p.Arg789Ser) c.6882A>C (p.Arg2294Ser) n.8405A>C | |
5 | g.13792163C>A | CA359219565 | DNAH5 | c.8279G>T (p.Arg2760Ile) c.8234G>T (p.Arg2745Ile) n.8486G>T c.8387G>T (p.Arg2796Ile) c.7292G>T (p.Arg2431Ile) c.3476G>T (p.Arg1159Ile) c.3029G>T (p.Arg1010Ile) c.2366G>T (p.Arg789Ile) c.6881G>T (p.Arg2294Ile) n.8404G>T | |
5 | g.13792163C>G | CA359219567 | DNAH5 | c.8279G>C (p.Arg2760Thr) c.8234G>C (p.Arg2745Thr) n.8486G>C c.8387G>C (p.Arg2796Thr) c.7292G>C (p.Arg2431Thr) c.3476G>C (p.Arg1159Thr) c.3029G>C (p.Arg1010Thr) c.2366G>C (p.Arg789Thr) c.6881G>C (p.Arg2294Thr) n.8404G>C | |
5 | g.13792163C>T | CA359219570 | DNAH5 | c.8279G>A (p.Arg2760Lys) c.8234G>A (p.Arg2745Lys) n.8486G>A c.8387G>A (p.Arg2796Lys) c.7292G>A (p.Arg2431Lys) c.3476G>A (p.Arg1159Lys) c.3029G>A (p.Arg1010Lys) c.2366G>A (p.Arg789Lys) c.6881G>A (p.Arg2294Lys) n.8404G>A | |
5 | g.13792164T>A | CA359219573 | DNAH5 | c.8278A>T (p.Arg2760Ter) c.8233A>T (p.Arg2745Ter) n.8485A>T c.8386A>T (p.Arg2796Ter) c.7291A>T (p.Arg2431Ter) c.3475A>T (p.Arg1159Ter) c.3028A>T (p.Arg1010Ter) c.2365A>T (p.Arg789Ter) c.6880A>T (p.Arg2294Ter) n.8403A>T | |
5 | g.13792164T>C | CA359219575 | DNAH5 | c.8278A>G (p.Arg2760Gly) c.8233A>G (p.Arg2745Gly) n.8485A>G c.8386A>G (p.Arg2796Gly) c.7291A>G (p.Arg2431Gly) c.3475A>G (p.Arg1159Gly) c.3028A>G (p.Arg1010Gly) c.2365A>G (p.Arg789Gly) c.6880A>G (p.Arg2294Gly) n.8403A>G | COSMIC |
5 | g.13792164T>G | CA443263688 | DNAH5 | c.8278A>C (p.Arg2760=) c.8233A>C (p.Arg2745=) n.8485A>C c.8386A>C (p.Arg2796=) c.7291A>C (p.Arg2431=) c.3475A>C (p.Arg1159=) c.3028A>C (p.Arg1010=) c.2365A>C (p.Arg789=) c.6880A>C (p.Arg2294=) n.8403A>C | |
5 | g.13792165C>A | CA443263691 | DNAH5 | c.8277G>T (p.Val2759=) c.8232G>T (p.Val2744=) n.8484G>T c.8385G>T (p.Val2795=) c.7290G>T (p.Val2430=) c.3474G>T (p.Val1158=) c.3027G>T (p.Val1009=) c.2364G>T (p.Val788=) c.6879G>T (p.Val2293=) n.8402G>T | |
5 | g.13792165C>G | CA443263693 | DNAH5 | c.8277G>C (p.Val2759=) c.8232G>C (p.Val2744=) n.8484G>C c.8385G>C (p.Val2795=) c.7290G>C (p.Val2430=) c.3474G>C (p.Val1158=) c.3027G>C (p.Val1009=) c.2364G>C (p.Val788=) c.6879G>C (p.Val2293=) n.8402G>C | ClinVar dbSNP gnomAD v4 |
5 | g.13792165C>T | CA443263696 | DNAH5 | c.8277G>A (p.Val2759=) c.8232G>A (p.Val2744=) n.8484G>A c.8385G>A (p.Val2795=) c.7290G>A (p.Val2430=) c.3474G>A (p.Val1158=) c.3027G>A (p.Val1009=) c.2364G>A (p.Val788=) c.6879G>A (p.Val2293=) n.8402G>A | ClinVar gnomAD v4 COSMIC |
5 | g.13792166A>C | CA359219578 | DNAH5 | c.8276T>G (p.Val2759Gly) c.8231T>G (p.Val2744Gly) n.8483T>G c.8384T>G (p.Val2795Gly) c.7289T>G (p.Val2430Gly) c.3473T>G (p.Val1158Gly) c.3026T>G (p.Val1009Gly) c.2363T>G (p.Val788Gly) c.6878T>G (p.Val2293Gly) n.8401T>G | |
5 | g.13792166A>G | CA359219582 | DNAH5 | c.8276T>C (p.Val2759Ala) c.8231T>C (p.Val2744Ala) n.8483T>C c.8384T>C (p.Val2795Ala) c.7289T>C (p.Val2430Ala) c.3473T>C (p.Val1158Ala) c.3026T>C (p.Val1009Ala) c.2363T>C (p.Val788Ala) c.6878T>C (p.Val2293Ala) n.8401T>C | |
5 | g.13792166A>T | CA359219584 | DNAH5 | c.8276T>A (p.Val2759Glu) c.8231T>A (p.Val2744Glu) n.8483T>A c.8384T>A (p.Val2795Glu) c.7289T>A (p.Val2430Glu) c.3473T>A (p.Val1158Glu) c.3026T>A (p.Val1009Glu) c.2363T>A (p.Val788Glu) c.6878T>A (p.Val2293Glu) n.8401T>A | |
5 | g.13792166_13792169delinsACTT | CA1528440997 | DNAH5 | c.8273_8276delinsAAGT (p.Glu2758=) c.8228_8231delinsAAGT (p.Glu2743=) n.8480_8483delinsAAGT c.8381_8384delinsAAGT (p.Glu2794=) c.7286_7289delinsAAGT (p.Glu2429=) c.3470_3473delinsAAGT (p.Glu1157=) c.3023_3026delinsAAGT (p.Glu1008=) c.2360_2363delinsAAGT (p.Glu787=) c.6875_6878delinsAAGT (p.Glu2292=) n.8398_8401delinsAAGT | |
5 | g.13792167C>A | CA359219588 | DNAH5 | c.8275G>T (p.Val2759Leu) c.8230G>T (p.Val2744Leu) n.8482G>T c.8383G>T (p.Val2795Leu) c.7288G>T (p.Val2430Leu) c.3472G>T (p.Val1158Leu) c.3025G>T (p.Val1009Leu) c.2362G>T (p.Val788Leu) c.6877G>T (p.Val2293Leu) n.8400G>T | gnomAD v4 COSMIC |
5 | g.13792167C= | CA1528440998 | DNAH5 | c.8275G= (p.Val2759=) c.8230G= (p.Val2744=) n.8482G= c.8383G= (p.Val2795=) c.7288G= (p.Val2430=) c.3472G= (p.Val1158=) c.3025G= (p.Val1009=) c.2362G= (p.Val788=) c.6877G= (p.Val2293=) n.8400G= | |
5 | g.13792167C>G | CA359219590 | DNAH5 | c.8275G>C (p.Val2759Leu) c.8230G>C (p.Val2744Leu) n.8482G>C c.8383G>C (p.Val2795Leu) c.7288G>C (p.Val2430Leu) c.3472G>C (p.Val1158Leu) c.3025G>C (p.Val1009Leu) c.2362G>C (p.Val788Leu) c.6877G>C (p.Val2293Leu) n.8400G>C | gnomAD v4 |
5 | g.13792167C>T | CA113960238 | DNAH5 | c.8275G>A (p.Val2759Met) c.8230G>A (p.Val2744Met) n.8482G>A c.8383G>A (p.Val2795Met) c.7288G>A (p.Val2430Met) c.3472G>A (p.Val1158Met) c.3025G>A (p.Val1009Met) c.2362G>A (p.Val788Met) c.6877G>A (p.Val2293Met) n.8400G>A | dbSNP |
5 | g.13792172_13792174del | CA557876594 | DNAH5 | c.8273_8275del (p.Glu2758del) c.8228_8230del (p.Glu2743del) n.8480_8482del c.8381_8383del (p.Glu2794del) c.7286_7288del (p.Glu2429del) c.3470_3472del (p.Glu1157del) c.3023_3025del (p.Glu1008del) c.2360_2362del (p.Glu787del) c.6875_6877del (p.Glu2292del) n.8398_8400del | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13792168T>A | CA3202851 | DNAH5 | c.8274A>T (p.Glu2758Asp) c.8229A>T (p.Glu2743Asp) n.8481A>T c.8382A>T (p.Glu2794Asp) c.7287A>T (p.Glu2429Asp) c.3471A>T (p.Glu1157Asp) c.3024A>T (p.Glu1008Asp) c.2361A>T (p.Glu787Asp) c.6876A>T (p.Glu2292Asp) n.8399A>T | dbSNP ExAC |
5 | g.13792168T>C | CA443263718 | DNAH5 | c.8274A>G (p.Glu2758=) c.8229A>G (p.Glu2743=) n.8481A>G c.8382A>G (p.Glu2794=) c.7287A>G (p.Glu2429=) c.3471A>G (p.Glu1157=) c.3024A>G (p.Glu1008=) c.2361A>G (p.Glu787=) c.6876A>G (p.Glu2292=) n.8399A>G | dbSNP |
5 | g.13792168T>G | CA359219596 | DNAH5 | c.8274A>C (p.Glu2758Asp) c.8229A>C (p.Glu2743Asp) n.8481A>C c.8382A>C (p.Glu2794Asp) c.7287A>C (p.Glu2429Asp) c.3471A>C (p.Glu1157Asp) c.3024A>C (p.Glu1008Asp) c.2361A>C (p.Glu787Asp) c.6876A>C (p.Glu2292Asp) n.8399A>C | |
5 | g.13792168T= | CA1528440999 | DNAH5 | c.8274A= (p.Glu2758=) c.8229A= (p.Glu2743=) n.8481A= c.8382A= (p.Glu2794=) c.7287A= (p.Glu2429=) c.3471A= (p.Glu1157=) c.3024A= (p.Glu1008=) c.2361A= (p.Glu787=) c.6876A= (p.Glu2292=) n.8399A= | |
5 | g.13792169T>A | CA359219601 | DNAH5 | c.8273A>T (p.Glu2758Val) c.8228A>T (p.Glu2743Val) n.8480A>T c.8381A>T (p.Glu2794Val) c.7286A>T (p.Glu2429Val) c.3470A>T (p.Glu1157Val) c.3023A>T (p.Glu1008Val) c.2360A>T (p.Glu787Val) c.6875A>T (p.Glu2292Val) n.8398A>T | |
5 | g.13792169T>C | CA359219604 | DNAH5 | c.8273A>G (p.Glu2758Gly) c.8228A>G (p.Glu2743Gly) n.8480A>G c.8381A>G (p.Glu2794Gly) c.7286A>G (p.Glu2429Gly) c.3470A>G (p.Glu1157Gly) c.3023A>G (p.Glu1008Gly) c.2360A>G (p.Glu787Gly) c.6875A>G (p.Glu2292Gly) n.8398A>G | |
5 | g.13792169T>G | CA3202852 | DNAH5 | c.8273A>C (p.Glu2758Ala) c.8228A>C (p.Glu2743Ala) n.8480A>C c.8381A>C (p.Glu2794Ala) c.7286A>C (p.Glu2429Ala) c.3470A>C (p.Glu1157Ala) c.3023A>C (p.Glu1008Ala) c.2360A>C (p.Glu787Ala) c.6875A>C (p.Glu2292Ala) n.8398A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792169T= | CA1528441000 | DNAH5 | c.8273A= (p.Glu2758=) c.8228A= (p.Glu2743=) n.8480A= c.8381A= (p.Glu2794=) c.7286A= (p.Glu2429=) c.3470A= (p.Glu1157=) c.3023A= (p.Glu1008=) c.2360A= (p.Glu787=) c.6875A= (p.Glu2292=) n.8398A= | |
5 | g.13792170C>A | CA359219616 | DNAH5 | c.8272G>T (p.Glu2758Ter) c.8227G>T (p.Glu2743Ter) n.8479G>T c.8380G>T (p.Glu2794Ter) c.7285G>T (p.Glu2429Ter) c.3469G>T (p.Glu1157Ter) c.3022G>T (p.Glu1008Ter) c.2359G>T (p.Glu787Ter) c.6874G>T (p.Glu2292Ter) n.8397G>T | ClinVar |
5 | g.13792170C>G | CA359219617 | DNAH5 | c.8272G>C (p.Glu2758Gln) c.8227G>C (p.Glu2743Gln) n.8479G>C c.8380G>C (p.Glu2794Gln) c.7285G>C (p.Glu2429Gln) c.3469G>C (p.Glu1157Gln) c.3022G>C (p.Glu1008Gln) c.2359G>C (p.Glu787Gln) c.6874G>C (p.Glu2292Gln) n.8397G>C | |
5 | g.13792170C>T | CA359219619 | DNAH5 | c.8272G>A (p.Glu2758Lys) c.8227G>A (p.Glu2743Lys) n.8479G>A c.8380G>A (p.Glu2794Lys) c.7285G>A (p.Glu2429Lys) c.3469G>A (p.Glu1157Lys) c.3022G>A (p.Glu1008Lys) c.2359G>A (p.Glu787Lys) c.6874G>A (p.Glu2292Lys) n.8397G>A | |
5 | g.13792171T>A | CA359219623 | DNAH5 | c.8271A>T (p.Glu2757Asp) c.8226A>T (p.Glu2742Asp) n.8478A>T c.8379A>T (p.Glu2793Asp) c.7284A>T (p.Glu2428Asp) c.3468A>T (p.Glu1156Asp) c.3021A>T (p.Glu1007Asp) c.2358A>T (p.Glu786Asp) c.6873A>T (p.Glu2291Asp) n.8396A>T | |
5 | g.13792171T>C | CA443263751 | DNAH5 | c.8271A>G (p.Glu2757=) c.8226A>G (p.Glu2742=) n.8478A>G c.8379A>G (p.Glu2793=) c.7284A>G (p.Glu2428=) c.3468A>G (p.Glu1156=) c.3021A>G (p.Glu1007=) c.2358A>G (p.Glu786=) c.6873A>G (p.Glu2291=) n.8396A>G | gnomAD v4 |
5 | g.13792171T>G | CA359219626 | DNAH5 | c.8271A>C (p.Glu2757Asp) c.8226A>C (p.Glu2742Asp) n.8478A>C c.8379A>C (p.Glu2793Asp) c.7284A>C (p.Glu2428Asp) c.3468A>C (p.Glu1156Asp) c.3021A>C (p.Glu1007Asp) c.2358A>C (p.Glu786Asp) c.6873A>C (p.Glu2291Asp) n.8396A>C | |
5 | g.13792172T>A | CA359219629 | DNAH5 | c.8270A>T (p.Glu2757Val) c.8225A>T (p.Glu2742Val) n.8477A>T c.8378A>T (p.Glu2793Val) c.7283A>T (p.Glu2428Val) c.3467A>T (p.Glu1156Val) c.3020A>T (p.Glu1007Val) c.2357A>T (p.Glu786Val) c.6872A>T (p.Glu2291Val) n.8395A>T | |
5 | g.13792172T>C | CA359219633 | DNAH5 | c.8270A>G (p.Glu2757Gly) c.8225A>G (p.Glu2742Gly) n.8477A>G c.8378A>G (p.Glu2793Gly) c.7283A>G (p.Glu2428Gly) c.3467A>G (p.Glu1156Gly) c.3020A>G (p.Glu1007Gly) c.2357A>G (p.Glu786Gly) c.6872A>G (p.Glu2291Gly) n.8395A>G | |
5 | g.13792172T>G | CA359219634 | DNAH5 | c.8270A>C (p.Glu2757Ala) c.8225A>C (p.Glu2742Ala) n.8477A>C c.8378A>C (p.Glu2793Ala) c.7283A>C (p.Glu2428Ala) c.3467A>C (p.Glu1156Ala) c.3020A>C (p.Glu1007Ala) c.2357A>C (p.Glu786Ala) c.6872A>C (p.Glu2291Ala) n.8395A>C | |
5 | g.13792173C>A | CA359219640 | DNAH5 | c.8269G>T (p.Glu2757Ter) c.8224G>T (p.Glu2742Ter) n.8476G>T c.8377G>T (p.Glu2793Ter) c.7282G>T (p.Glu2428Ter) c.3466G>T (p.Glu1156Ter) c.3019G>T (p.Glu1007Ter) c.2356G>T (p.Glu786Ter) c.6871G>T (p.Glu2291Ter) n.8394G>T | |
5 | g.13792173C>G | CA359219641 | DNAH5 | c.8269G>C (p.Glu2757Gln) c.8224G>C (p.Glu2742Gln) n.8476G>C c.8377G>C (p.Glu2793Gln) c.7282G>C (p.Glu2428Gln) c.3466G>C (p.Glu1156Gln) c.3019G>C (p.Glu1007Gln) c.2356G>C (p.Glu786Gln) c.6871G>C (p.Glu2291Gln) n.8394G>C | |
5 | g.13792173C>T | CA359219637 | DNAH5 | c.8269G>A (p.Glu2757Lys) c.8224G>A (p.Glu2742Lys) n.8476G>A c.8377G>A (p.Glu2793Lys) c.7282G>A (p.Glu2428Lys) c.3466G>A (p.Glu1156Lys) c.3019G>A (p.Glu1007Lys) c.2356G>A (p.Glu786Lys) c.6871G>A (p.Glu2291Lys) n.8394G>A | COSMIC |
5 | g.13792174T>A | CA443263767 | DNAH5 | c.8268A>T (p.Ser2756=) c.8223A>T (p.Ser2741=) n.8475A>T c.8376A>T (p.Ser2792=) c.7281A>T (p.Ser2427=) c.3465A>T (p.Ser1155=) c.3018A>T (p.Ser1006=) c.2355A>T (p.Ser785=) c.6870A>T (p.Ser2290=) n.8393A>T | |
5 | g.13792174T>C | CA443263771 | DNAH5 | c.8268A>G (p.Ser2756=) c.8223A>G (p.Ser2741=) n.8475A>G c.8376A>G (p.Ser2792=) c.7281A>G (p.Ser2427=) c.3465A>G (p.Ser1155=) c.3018A>G (p.Ser1006=) c.2355A>G (p.Ser785=) c.6870A>G (p.Ser2290=) n.8393A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792174T>G | CA3202853 | DNAH5 | c.8268A>C (p.Ser2756=) c.8223A>C (p.Ser2741=) n.8475A>C c.8376A>C (p.Ser2792=) c.7281A>C (p.Ser2427=) c.3465A>C (p.Ser1155=) c.3018A>C (p.Ser1006=) c.2355A>C (p.Ser785=) c.6870A>C (p.Ser2290=) n.8393A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792174T= | CA1528441001 | DNAH5 | c.8268A= (p.Ser2756=) c.8223A= (p.Ser2741=) n.8475A= c.8376A= (p.Ser2792=) c.7281A= (p.Ser2427=) c.3465A= (p.Ser1155=) c.3018A= (p.Ser1006=) c.2355A= (p.Ser785=) c.6870A= (p.Ser2290=) n.8393A= | |
5 | g.13792175G>A | CA359219644 | DNAH5 | c.8267C>T (p.Ser2756Leu) c.8222C>T (p.Ser2741Leu) n.8474C>T c.8375C>T (p.Ser2792Leu) c.7280C>T (p.Ser2427Leu) c.3464C>T (p.Ser1155Leu) c.3017C>T (p.Ser1006Leu) c.2354C>T (p.Ser785Leu) c.6869C>T (p.Ser2290Leu) n.8392C>T | |
5 | g.13792175G>C | CA359219646 | DNAH5 | c.8267C>G (p.Ser2756Ter) c.8222C>G (p.Ser2741Ter) n.8474C>G c.8375C>G (p.Ser2792Ter) c.7280C>G (p.Ser2427Ter) c.3464C>G (p.Ser1155Ter) c.3017C>G (p.Ser1006Ter) c.2354C>G (p.Ser785Ter) c.6869C>G (p.Ser2290Ter) n.8392C>G | |
5 | g.13792175G>T | CA359219648 | DNAH5 | c.8267C>A (p.Ser2756Ter) c.8222C>A (p.Ser2741Ter) n.8474C>A c.8375C>A (p.Ser2792Ter) c.7280C>A (p.Ser2427Ter) c.3464C>A (p.Ser1155Ter) c.3017C>A (p.Ser1006Ter) c.2354C>A (p.Ser785Ter) c.6869C>A (p.Ser2290Ter) n.8392C>A | |
5 | g.13792176A>C | CA359219652 | DNAH5 | c.8266T>G (p.Ser2756Ala) c.8221T>G (p.Ser2741Ala) n.8473T>G c.8374T>G (p.Ser2792Ala) c.7279T>G (p.Ser2427Ala) c.3463T>G (p.Ser1155Ala) c.3016T>G (p.Ser1006Ala) c.2353T>G (p.Ser785Ala) c.6868T>G (p.Ser2290Ala) n.8391T>G | |
5 | g.13792176A>G | CA359219658 | DNAH5 | c.8266T>C (p.Ser2756Pro) c.8221T>C (p.Ser2741Pro) n.8473T>C c.8374T>C (p.Ser2792Pro) c.7279T>C (p.Ser2427Pro) c.3463T>C (p.Ser1155Pro) c.3016T>C (p.Ser1006Pro) c.2353T>C (p.Ser785Pro) c.6868T>C (p.Ser2290Pro) n.8391T>C | |
5 | g.13792176A>T | CA359219659 | DNAH5 | c.8266T>A (p.Ser2756Thr) c.8221T>A (p.Ser2741Thr) n.8473T>A c.8374T>A (p.Ser2792Thr) c.7279T>A (p.Ser2427Thr) c.3463T>A (p.Ser1155Thr) c.3016T>A (p.Ser1006Thr) c.2353T>A (p.Ser785Thr) c.6868T>A (p.Ser2290Thr) n.8391T>A | |
5 | g.13792177G>A | CA443264126 | DNAH5 | c.8265C>T (p.Phe2755=) c.8220C>T (p.Phe2740=) n.8472C>T c.8373C>T (p.Phe2791=) c.7278C>T (p.Phe2426=) c.3462C>T (p.Phe1154=) c.3015C>T (p.Phe1005=) c.2352C>T (p.Phe784=) c.6867C>T (p.Phe2289=) n.8390C>T | |
5 | g.13792177G>C | CA359219660 | DNAH5 | c.8265C>G (p.Phe2755Leu) c.8220C>G (p.Phe2740Leu) n.8472C>G c.8373C>G (p.Phe2791Leu) c.7278C>G (p.Phe2426Leu) c.3462C>G (p.Phe1154Leu) c.3015C>G (p.Phe1005Leu) c.2352C>G (p.Phe784Leu) c.6867C>G (p.Phe2289Leu) n.8390C>G | |
5 | g.13792177G>T | CA359219661 | DNAH5 | c.8265C>A (p.Phe2755Leu) c.8220C>A (p.Phe2740Leu) n.8472C>A c.8373C>A (p.Phe2791Leu) c.7278C>A (p.Phe2426Leu) c.3462C>A (p.Phe1154Leu) c.3015C>A (p.Phe1005Leu) c.2352C>A (p.Phe784Leu) c.6867C>A (p.Phe2289Leu) n.8390C>A | COSMIC |
5 | g.13792178A>C | CA359219662 | DNAH5 | c.8264T>G (p.Phe2755Cys) c.8219T>G (p.Phe2740Cys) n.8471T>G c.8372T>G (p.Phe2791Cys) c.7277T>G (p.Phe2426Cys) c.3461T>G (p.Phe1154Cys) c.3014T>G (p.Phe1005Cys) c.2351T>G (p.Phe784Cys) c.6866T>G (p.Phe2289Cys) n.8389T>G | |
5 | g.13792178A>G | CA359219663 | DNAH5 | c.8264T>C (p.Phe2755Ser) c.8219T>C (p.Phe2740Ser) n.8471T>C c.8372T>C (p.Phe2791Ser) c.7277T>C (p.Phe2426Ser) c.3461T>C (p.Phe1154Ser) c.3014T>C (p.Phe1005Ser) c.2351T>C (p.Phe784Ser) c.6866T>C (p.Phe2289Ser) n.8389T>C | |
5 | g.13792178A>T | CA359219664 | DNAH5 | c.8264T>A (p.Phe2755Tyr) c.8219T>A (p.Phe2740Tyr) n.8471T>A c.8372T>A (p.Phe2791Tyr) c.7277T>A (p.Phe2426Tyr) c.3461T>A (p.Phe1154Tyr) c.3014T>A (p.Phe1005Tyr) c.2351T>A (p.Phe784Tyr) c.6866T>A (p.Phe2289Tyr) n.8389T>A | |
5 | g.13792179A>C | CA359219669 | DNAH5 | c.8263T>G (p.Phe2755Val) c.8218T>G (p.Phe2740Val) n.8470T>G c.8371T>G (p.Phe2791Val) c.7276T>G (p.Phe2426Val) c.3460T>G (p.Phe1154Val) c.3013T>G (p.Phe1005Val) c.2350T>G (p.Phe784Val) c.6865T>G (p.Phe2289Val) n.8388T>G | |
5 | g.13792179A>G | CA359219666 | DNAH5 | c.8263T>C (p.Phe2755Leu) c.8218T>C (p.Phe2740Leu) n.8470T>C c.8371T>C (p.Phe2791Leu) c.7276T>C (p.Phe2426Leu) c.3460T>C (p.Phe1154Leu) c.3013T>C (p.Phe1005Leu) c.2350T>C (p.Phe784Leu) c.6865T>C (p.Phe2289Leu) n.8388T>C | |
5 | g.13792179A>T | CA359219668 | DNAH5 | c.8263T>A (p.Phe2755Ile) c.8218T>A (p.Phe2740Ile) n.8470T>A c.8371T>A (p.Phe2791Ile) c.7276T>A (p.Phe2426Ile) c.3460T>A (p.Phe1154Ile) c.3013T>A (p.Phe1005Ile) c.2350T>A (p.Phe784Ile) c.6865T>A (p.Phe2289Ile) n.8388T>A | |
5 | g.13792180A= | CA1528441002 | DNAH5 | c.8262T= (p.Gly2754=) c.8217T= (p.Gly2739=) n.8469T= c.8370T= (p.Gly2790=) c.7275T= (p.Gly2425=) c.3459T= (p.Gly1153=) c.3012T= (p.Gly1004=) c.2349T= (p.Gly783=) c.6864T= (p.Gly2288=) n.8387T= | |
5 | g.13792180A>C | CA443264140 | DNAH5 | c.8262T>G (p.Gly2754=) c.8217T>G (p.Gly2739=) n.8469T>G c.8370T>G (p.Gly2790=) c.7275T>G (p.Gly2425=) c.3459T>G (p.Gly1153=) c.3012T>G (p.Gly1004=) c.2349T>G (p.Gly783=) c.6864T>G (p.Gly2288=) n.8387T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792180A>G | CA443264142 | DNAH5 | c.8262T>C (p.Gly2754=) c.8217T>C (p.Gly2739=) n.8469T>C c.8370T>C (p.Gly2790=) c.7275T>C (p.Gly2425=) c.3459T>C (p.Gly1153=) c.3012T>C (p.Gly1004=) c.2349T>C (p.Gly783=) c.6864T>C (p.Gly2288=) n.8387T>C | |
5 | g.13792180A>T | CA443264147 | DNAH5 | c.8262T>A (p.Gly2754=) c.8217T>A (p.Gly2739=) n.8469T>A c.8370T>A (p.Gly2790=) c.7275T>A (p.Gly2425=) c.3459T>A (p.Gly1153=) c.3012T>A (p.Gly1004=) c.2349T>A (p.Gly783=) c.6864T>A (p.Gly2288=) n.8387T>A | |
5 | g.13792181C>A | CA359219682 | DNAH5 | c.8261G>T (p.Gly2754Val) c.8216G>T (p.Gly2739Val) n.8468G>T c.8369G>T (p.Gly2790Val) c.7274G>T (p.Gly2425Val) c.3458G>T (p.Gly1153Val) c.3011G>T (p.Gly1004Val) c.2348G>T (p.Gly783Val) c.6863G>T (p.Gly2288Val) n.8386G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13792181C= | CA1528441003 | DNAH5 | c.8261G= (p.Gly2754=) c.8216G= (p.Gly2739=) n.8468G= c.8369G= (p.Gly2790=) c.7274G= (p.Gly2425=) c.3458G= (p.Gly1153=) c.3011G= (p.Gly1004=) c.2348G= (p.Gly783=) c.6863G= (p.Gly2288=) n.8386G= | |
5 | g.13792181C>G | CA359219685 | DNAH5 | c.8261G>C (p.Gly2754Ala) c.8216G>C (p.Gly2739Ala) n.8468G>C c.8369G>C (p.Gly2790Ala) c.7274G>C (p.Gly2425Ala) c.3458G>C (p.Gly1153Ala) c.3011G>C (p.Gly1004Ala) c.2348G>C (p.Gly783Ala) c.6863G>C (p.Gly2288Ala) n.8386G>C | |
5 | g.13792181C>T | CA3202854 | DNAH5 | c.8261G>A (p.Gly2754Asp) c.8216G>A (p.Gly2739Asp) n.8468G>A c.8369G>A (p.Gly2790Asp) c.7274G>A (p.Gly2425Asp) c.3458G>A (p.Gly1153Asp) c.3011G>A (p.Gly1004Asp) c.2348G>A (p.Gly783Asp) c.6863G>A (p.Gly2288Asp) n.8386G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792182C>A | CA359219689 | DNAH5 | c.8260G>T (p.Gly2754Cys) c.8215G>T (p.Gly2739Cys) n.8467G>T c.8368G>T (p.Gly2790Cys) c.7273G>T (p.Gly2425Cys) c.3457G>T (p.Gly1153Cys) c.3010G>T (p.Gly1004Cys) c.2347G>T (p.Gly783Cys) c.6862G>T (p.Gly2288Cys) n.8385G>T | |
5 | g.13792182C>G | CA359219692 | DNAH5 | c.8260G>C (p.Gly2754Arg) c.8215G>C (p.Gly2739Arg) n.8467G>C c.8368G>C (p.Gly2790Arg) c.7273G>C (p.Gly2425Arg) c.3457G>C (p.Gly1153Arg) c.3010G>C (p.Gly1004Arg) c.2347G>C (p.Gly783Arg) c.6862G>C (p.Gly2288Arg) n.8385G>C | gnomAD v4 |
5 | g.13792182C>T | CA359219694 | DNAH5 | c.8260G>A (p.Gly2754Ser) c.8215G>A (p.Gly2739Ser) n.8467G>A c.8368G>A (p.Gly2790Ser) c.7273G>A (p.Gly2425Ser) c.3457G>A (p.Gly1153Ser) c.3010G>A (p.Gly1004Ser) c.2347G>A (p.Gly783Ser) c.6862G>A (p.Gly2288Ser) n.8385G>A | |
5 | g.13792183C>A | CA359219700 | DNAH5 | c.8259G>T (p.Arg2753Ser) c.8214G>T (p.Arg2738Ser) n.8466G>T c.8367G>T (p.Arg2789Ser) c.7272G>T (p.Arg2424Ser) c.3456G>T (p.Arg1152Ser) c.3009G>T (p.Arg1003Ser) c.2346G>T (p.Arg782Ser) c.6861G>T (p.Arg2287Ser) n.8384G>T | |
5 | g.13792183C>G | CA359219701 | DNAH5 | c.8259G>C (p.Arg2753Ser) c.8214G>C (p.Arg2738Ser) n.8466G>C c.8367G>C (p.Arg2789Ser) c.7272G>C (p.Arg2424Ser) c.3456G>C (p.Arg1152Ser) c.3009G>C (p.Arg1003Ser) c.2346G>C (p.Arg782Ser) c.6861G>C (p.Arg2287Ser) n.8384G>C | |
5 | g.13792183C>T | CA443264166 | DNAH5 | c.8259G>A (p.Arg2753=) c.8214G>A (p.Arg2738=) n.8466G>A c.8367G>A (p.Arg2789=) c.7272G>A (p.Arg2424=) c.3456G>A (p.Arg1152=) c.3009G>A (p.Arg1003=) c.2346G>A (p.Arg782=) c.6861G>A (p.Arg2287=) n.8384G>A | |
5 | g.13792184C>A | CA359219702 | DNAH5 | c.8258G>T (p.Arg2753Met) c.8213G>T (p.Arg2738Met) n.8465G>T c.8366G>T (p.Arg2789Met) c.7271G>T (p.Arg2424Met) c.3455G>T (p.Arg1152Met) c.3008G>T (p.Arg1003Met) c.2345G>T (p.Arg782Met) c.6860G>T (p.Arg2287Met) n.8383G>T | |
5 | g.13792184C>G | CA359219703 | DNAH5 | c.8258G>C (p.Arg2753Thr) c.8213G>C (p.Arg2738Thr) n.8465G>C c.8366G>C (p.Arg2789Thr) c.7271G>C (p.Arg2424Thr) c.3455G>C (p.Arg1152Thr) c.3008G>C (p.Arg1003Thr) c.2345G>C (p.Arg782Thr) c.6860G>C (p.Arg2287Thr) n.8383G>C | |
5 | g.13792184C>T | CA359219704 | DNAH5 | c.8258G>A (p.Arg2753Lys) c.8213G>A (p.Arg2738Lys) n.8465G>A c.8366G>A (p.Arg2789Lys) c.7271G>A (p.Arg2424Lys) c.3455G>A (p.Arg1152Lys) c.3008G>A (p.Arg1003Lys) c.2345G>A (p.Arg782Lys) c.6860G>A (p.Arg2287Lys) n.8383G>A | gnomAD v4 |
5 | g.13792186_13792187del | CA2578270194 | DNAH5 | c.8257_8258del (p.Arg2753GlyfsTer27) c.8212_8213del (p.Arg2738GlyfsTer27) n.8464_8465del c.8365_8366del (p.Arg2789GlyfsTer27) c.7270_7271del (p.Arg2424GlyfsTer27) c.3454_3455del (p.Arg1152GlyfsTer27) c.3007_3008del (p.Arg1003GlyfsTer27) c.2344_2345del (p.Arg782GlyfsTer27) c.6859_6860del (p.Arg2287GlyfsTer27) n.8382_8383del | |
5 | g.13792185T>A | CA359219705 | DNAH5 | c.8257A>T (p.Arg2753Trp) c.8212A>T (p.Arg2738Trp) n.8464A>T c.8365A>T (p.Arg2789Trp) c.7270A>T (p.Arg2424Trp) c.3454A>T (p.Arg1152Trp) c.3007A>T (p.Arg1003Trp) c.2344A>T (p.Arg782Trp) c.6859A>T (p.Arg2287Trp) n.8382A>T | |
5 | g.13792185T>C | CA359219706 | DNAH5 | c.8257A>G (p.Arg2753Gly) c.8212A>G (p.Arg2738Gly) n.8464A>G c.8365A>G (p.Arg2789Gly) c.7270A>G (p.Arg2424Gly) c.3454A>G (p.Arg1152Gly) c.3007A>G (p.Arg1003Gly) c.2344A>G (p.Arg782Gly) c.6859A>G (p.Arg2287Gly) n.8382A>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13792185T>G | CA443264184 | DNAH5 | c.8257A>C (p.Arg2753=) c.8212A>C (p.Arg2738=) n.8464A>C c.8365A>C (p.Arg2789=) c.7270A>C (p.Arg2424=) c.3454A>C (p.Arg1152=) c.3007A>C (p.Arg1003=) c.2344A>C (p.Arg782=) c.6859A>C (p.Arg2287=) n.8382A>C | |
5 | g.13792185T= | CA1528441004 | DNAH5 | c.8257A= (p.Arg2753=) c.8212A= (p.Arg2738=) n.8464A= c.8365A= (p.Arg2789=) c.7270A= (p.Arg2424=) c.3454A= (p.Arg1152=) c.3007A= (p.Arg1003=) c.2344A= (p.Arg782=) c.6859A= (p.Arg2287=) n.8382A= | |
5 | g.13792186C>A | CA359219707 | DNAH5 | c.8256G>T (p.Gln2752His) c.8211G>T (p.Gln2737His) n.8463G>T c.8364G>T (p.Gln2788His) c.7269G>T (p.Gln2423His) c.3453G>T (p.Gln1151His) c.3006G>T (p.Gln1002His) c.2343G>T (p.Gln781His) c.6858G>T (p.Gln2286His) n.8381G>T | |
5 | g.13792186C= | CA1528441005 | DNAH5 | c.8256G= (p.Gln2752=) c.8211G= (p.Gln2737=) n.8463G= c.8364G= (p.Gln2788=) c.7269G= (p.Gln2423=) c.3453G= (p.Gln1151=) c.3006G= (p.Gln1002=) c.2343G= (p.Gln781=) c.6858G= (p.Gln2286=) n.8381G= | |
5 | g.13792186C>G | CA359219708 | DNAH5 | c.8256G>C (p.Gln2752His) c.8211G>C (p.Gln2737His) n.8463G>C c.8364G>C (p.Gln2788His) c.7269G>C (p.Gln2423His) c.3453G>C (p.Gln1151His) c.3006G>C (p.Gln1002His) c.2343G>C (p.Gln781His) c.6858G>C (p.Gln2286His) n.8381G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792186C>T | CA443264185 | DNAH5 | c.8256G>A (p.Gln2752=) c.8211G>A (p.Gln2737=) n.8463G>A c.8364G>A (p.Gln2788=) c.7269G>A (p.Gln2423=) c.3453G>A (p.Gln1151=) c.3006G>A (p.Gln1002=) c.2343G>A (p.Gln781=) c.6858G>A (p.Gln2286=) n.8381G>A | |
5 | g.13792187T>A | CA359219710 | DNAH5 | c.8255A>T (p.Gln2752Leu) c.8210A>T (p.Gln2737Leu) n.8462A>T c.8363A>T (p.Gln2788Leu) c.7268A>T (p.Gln2423Leu) c.3452A>T (p.Gln1151Leu) c.3005A>T (p.Gln1002Leu) c.2342A>T (p.Gln781Leu) c.6857A>T (p.Gln2286Leu) n.8380A>T | |
5 | g.13792187T>C | CA359219715 | DNAH5 | c.8255A>G (p.Gln2752Arg) c.8210A>G (p.Gln2737Arg) n.8462A>G c.8363A>G (p.Gln2788Arg) c.7268A>G (p.Gln2423Arg) c.3452A>G (p.Gln1151Arg) c.3005A>G (p.Gln1002Arg) c.2342A>G (p.Gln781Arg) c.6857A>G (p.Gln2286Arg) n.8380A>G | dbSNP |
5 | g.13792187T>G | CA359219713 | DNAH5 | c.8255A>C (p.Gln2752Pro) c.8210A>C (p.Gln2737Pro) n.8462A>C c.8363A>C (p.Gln2788Pro) c.7268A>C (p.Gln2423Pro) c.3452A>C (p.Gln1151Pro) c.3005A>C (p.Gln1002Pro) c.2342A>C (p.Gln781Pro) c.6857A>C (p.Gln2286Pro) n.8380A>C | |
5 | g.13792187T= | CA1528441006 | DNAH5 | c.8255A= (p.Gln2752=) c.8210A= (p.Gln2737=) n.8462A= c.8363A= (p.Gln2788=) c.7268A= (p.Gln2423=) c.3452A= (p.Gln1151=) c.3005A= (p.Gln1002=) c.2342A= (p.Gln781=) c.6857A= (p.Gln2286=) n.8380A= | |
5 | g.13792188G>A | CA359219717 | DNAH5 | c.8254C>T (p.Gln2752Ter) c.8209C>T (p.Gln2737Ter) n.8461C>T c.8362C>T (p.Gln2788Ter) c.7267C>T (p.Gln2423Ter) c.3451C>T (p.Gln1151Ter) c.3004C>T (p.Gln1002Ter) c.2341C>T (p.Gln781Ter) c.6856C>T (p.Gln2286Ter) n.8379C>T | dbSNP |
5 | g.13792188G>C | CA359219720 | DNAH5 | c.8254C>G (p.Gln2752Glu) c.8209C>G (p.Gln2737Glu) n.8461C>G c.8362C>G (p.Gln2788Glu) c.7267C>G (p.Gln2423Glu) c.3451C>G (p.Gln1151Glu) c.3004C>G (p.Gln1002Glu) c.2341C>G (p.Gln781Glu) c.6856C>G (p.Gln2286Glu) n.8379C>G | gnomAD v4 |
5 | g.13792188G= | CA1528441007 | DNAH5 | c.8254C= (p.Gln2752=) c.8209C= (p.Gln2737=) n.8461C= c.8362C= (p.Gln2788=) c.7267C= (p.Gln2423=) c.3451C= (p.Gln1151=) c.3004C= (p.Gln1002=) c.2341C= (p.Gln781=) c.6856C= (p.Gln2286=) n.8379C= | |
5 | g.13792188G>T | CA359219722 | DNAH5 | c.8254C>A (p.Gln2752Lys) c.8209C>A (p.Gln2737Lys) n.8461C>A c.8362C>A (p.Gln2788Lys) c.7267C>A (p.Gln2423Lys) c.3451C>A (p.Gln1151Lys) c.3004C>A (p.Gln1002Lys) c.2341C>A (p.Gln781Lys) c.6856C>A (p.Gln2286Lys) n.8379C>A | |
5 | g.13792189A>C | CA443264200 | DNAH5 | c.8253T>G (p.Thr2751=) c.8208T>G (p.Thr2736=) n.8460T>G c.8361T>G (p.Thr2787=) c.7266T>G (p.Thr2422=) c.3450T>G (p.Thr1150=) c.3003T>G (p.Thr1001=) c.2340T>G (p.Thr780=) c.6855T>G (p.Thr2285=) n.8378T>G | |
5 | g.13792189A>G | CA443264206 | DNAH5 | c.8253T>C (p.Thr2751=) c.8208T>C (p.Thr2736=) n.8460T>C c.8361T>C (p.Thr2787=) c.7266T>C (p.Thr2422=) c.3450T>C (p.Thr1150=) c.3003T>C (p.Thr1001=) c.2340T>C (p.Thr780=) c.6855T>C (p.Thr2285=) n.8378T>C | |
5 | g.13792189A>T | CA443264209 | DNAH5 | c.8253T>A (p.Thr2751=) c.8208T>A (p.Thr2736=) n.8460T>A c.8361T>A (p.Thr2787=) c.7266T>A (p.Thr2422=) c.3450T>A (p.Thr1150=) c.3003T>A (p.Thr1001=) c.2340T>A (p.Thr780=) c.6855T>A (p.Thr2285=) n.8378T>A | |
5 | g.13792190G>A | CA359219723 | DNAH5 | c.8252C>T (p.Thr2751Ile) c.8207C>T (p.Thr2736Ile) n.8459C>T c.8360C>T (p.Thr2787Ile) c.7265C>T (p.Thr2422Ile) c.3449C>T (p.Thr1150Ile) c.3002C>T (p.Thr1001Ile) c.2339C>T (p.Thr780Ile) c.6854C>T (p.Thr2285Ile) n.8377C>T | gnomAD v4 |
5 | g.13792190G>C | CA359219725 | DNAH5 | c.8252C>G (p.Thr2751Ser) c.8207C>G (p.Thr2736Ser) n.8459C>G c.8360C>G (p.Thr2787Ser) c.7265C>G (p.Thr2422Ser) c.3449C>G (p.Thr1150Ser) c.3002C>G (p.Thr1001Ser) c.2339C>G (p.Thr780Ser) c.6854C>G (p.Thr2285Ser) n.8377C>G | |
5 | g.13792190G>T | CA359219727 | DNAH5 | c.8252C>A (p.Thr2751Asn) c.8207C>A (p.Thr2736Asn) n.8459C>A c.8360C>A (p.Thr2787Asn) c.7265C>A (p.Thr2422Asn) c.3449C>A (p.Thr1150Asn) c.3002C>A (p.Thr1001Asn) c.2339C>A (p.Thr780Asn) c.6854C>A (p.Thr2285Asn) n.8377C>A | |
5 | g.13792191T>A | CA359219729 | DNAH5 | c.8251A>T (p.Thr2751Ser) c.8206A>T (p.Thr2736Ser) n.8458A>T c.8359A>T (p.Thr2787Ser) c.7264A>T (p.Thr2422Ser) c.3448A>T (p.Thr1150Ser) c.3001A>T (p.Thr1001Ser) c.2338A>T (p.Thr780Ser) c.6853A>T (p.Thr2285Ser) n.8376A>T | dbSNP |
5 | g.13792191T>C | CA359219730 | DNAH5 | c.8251A>G (p.Thr2751Ala) c.8206A>G (p.Thr2736Ala) n.8458A>G c.8359A>G (p.Thr2787Ala) c.7264A>G (p.Thr2422Ala) c.3448A>G (p.Thr1150Ala) c.3001A>G (p.Thr1001Ala) c.2338A>G (p.Thr780Ala) c.6853A>G (p.Thr2285Ala) n.8376A>G | |
5 | g.13792191T>G | CA359219731 | DNAH5 | c.8251A>C (p.Thr2751Pro) c.8206A>C (p.Thr2736Pro) n.8458A>C c.8359A>C (p.Thr2787Pro) c.7264A>C (p.Thr2422Pro) c.3448A>C (p.Thr1150Pro) c.3001A>C (p.Thr1001Pro) c.2338A>C (p.Thr780Pro) c.6853A>C (p.Thr2285Pro) n.8376A>C | |
5 | g.13792192A>C | CA359219733 | DNAH5 | c.8250T>G (p.Cys2750Trp) c.8205T>G (p.Cys2735Trp) n.8457T>G c.8358T>G (p.Cys2786Trp) c.7263T>G (p.Cys2421Trp) c.3447T>G (p.Cys1149Trp) c.3000T>G (p.Cys1000Trp) c.2337T>G (p.Cys779Trp) c.6852T>G (p.Cys2284Trp) n.8375T>G | gnomAD v4 |
5 | g.13792192A>G | CA443264243 | DNAH5 | c.8250T>C (p.Cys2750=) c.8205T>C (p.Cys2735=) n.8457T>C c.8358T>C (p.Cys2786=) c.7263T>C (p.Cys2421=) c.3447T>C (p.Cys1149=) c.3000T>C (p.Cys1000=) c.2337T>C (p.Cys779=) c.6852T>C (p.Cys2284=) n.8375T>C | |
5 | g.13792192A>T | CA359219735 | DNAH5 | c.8250T>A (p.Cys2750Ter) c.8205T>A (p.Cys2735Ter) n.8457T>A c.8358T>A (p.Cys2786Ter) c.7263T>A (p.Cys2421Ter) c.3447T>A (p.Cys1149Ter) c.3000T>A (p.Cys1000Ter) c.2337T>A (p.Cys779Ter) c.6852T>A (p.Cys2284Ter) n.8375T>A | ClinVar dbSNP gnomAD v4 |
5 | g.13792193C>A | CA359219739 | DNAH5 | c.8249G>T (p.Cys2750Phe) c.8204G>T (p.Cys2735Phe) n.8456G>T c.8357G>T (p.Cys2786Phe) c.7262G>T (p.Cys2421Phe) c.3446G>T (p.Cys1149Phe) c.2999G>T (p.Cys1000Phe) c.2336G>T (p.Cys779Phe) c.6851G>T (p.Cys2284Phe) n.8374G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792193C= | CA1528441008 | DNAH5 | c.8249G= (p.Cys2750=) c.8204G= (p.Cys2735=) n.8456G= c.8357G= (p.Cys2786=) c.7262G= (p.Cys2421=) c.3446G= (p.Cys1149=) c.2999G= (p.Cys1000=) c.2336G= (p.Cys779=) c.6851G= (p.Cys2284=) n.8374G= | |
5 | g.13792193C>G | CA359219737 | DNAH5 | c.8249G>C (p.Cys2750Ser) c.8204G>C (p.Cys2735Ser) n.8456G>C c.8357G>C (p.Cys2786Ser) c.7262G>C (p.Cys2421Ser) c.3446G>C (p.Cys1149Ser) c.2999G>C (p.Cys1000Ser) c.2336G>C (p.Cys779Ser) c.6851G>C (p.Cys2284Ser) n.8374G>C | |
5 | g.13792193C>T | CA359219736 | DNAH5 | c.8249G>A (p.Cys2750Tyr) c.8204G>A (p.Cys2735Tyr) n.8456G>A c.8357G>A (p.Cys2786Tyr) c.7262G>A (p.Cys2421Tyr) c.3446G>A (p.Cys1149Tyr) c.2999G>A (p.Cys1000Tyr) c.2336G>A (p.Cys779Tyr) c.6851G>A (p.Cys2284Tyr) n.8374G>A | |
5 | g.13792194A>C | CA359219742 | DNAH5 | c.8248T>G (p.Cys2750Gly) c.8203T>G (p.Cys2735Gly) n.8455T>G c.8356T>G (p.Cys2786Gly) c.7261T>G (p.Cys2421Gly) c.3445T>G (p.Cys1149Gly) c.2998T>G (p.Cys1000Gly) c.2335T>G (p.Cys779Gly) c.6850T>G (p.Cys2284Gly) n.8373T>G | gnomAD v4 |
5 | g.13792194A>G | CA359219744 | DNAH5 | c.8248T>C (p.Cys2750Arg) c.8203T>C (p.Cys2735Arg) n.8455T>C c.8356T>C (p.Cys2786Arg) c.7261T>C (p.Cys2421Arg) c.3445T>C (p.Cys1149Arg) c.2998T>C (p.Cys1000Arg) c.2335T>C (p.Cys779Arg) c.6850T>C (p.Cys2284Arg) n.8373T>C | |
5 | g.13792194A>T | CA359219746 | DNAH5 | c.8248T>A (p.Cys2750Ser) c.8203T>A (p.Cys2735Ser) n.8455T>A c.8356T>A (p.Cys2786Ser) c.7261T>A (p.Cys2421Ser) c.3445T>A (p.Cys1149Ser) c.2998T>A (p.Cys1000Ser) c.2335T>A (p.Cys779Ser) c.6850T>A (p.Cys2284Ser) n.8373T>A | gnomAD v4 |
5 | g.13792195G>A | CA3202855 | DNAH5 | c.8247C>T (p.Tyr2749=) c.8202C>T (p.Tyr2734=) n.8454C>T c.8355C>T (p.Tyr2785=) c.7260C>T (p.Tyr2420=) c.3444C>T (p.Tyr1148=) c.2997C>T (p.Tyr999=) c.2334C>T (p.Tyr778=) c.6849C>T (p.Tyr2283=) n.8372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792195G>C | CA359219749 | DNAH5 | c.8247C>G (p.Tyr2749Ter) c.8202C>G (p.Tyr2734Ter) n.8454C>G c.8355C>G (p.Tyr2785Ter) c.7260C>G (p.Tyr2420Ter) c.3444C>G (p.Tyr1148Ter) c.2997C>G (p.Tyr999Ter) c.2334C>G (p.Tyr778Ter) c.6849C>G (p.Tyr2283Ter) n.8372C>G | |
5 | g.13792195G= | CA1528441009 | DNAH5 | c.8247C= (p.Tyr2749=) c.8202C= (p.Tyr2734=) n.8454C= c.8355C= (p.Tyr2785=) c.7260C= (p.Tyr2420=) c.3444C= (p.Tyr1148=) c.2997C= (p.Tyr999=) c.2334C= (p.Tyr778=) c.6849C= (p.Tyr2283=) n.8372C= | |
5 | g.13792195G>T | CA359219751 | DNAH5 | c.8247C>A (p.Tyr2749Ter) c.8202C>A (p.Tyr2734Ter) n.8454C>A c.8355C>A (p.Tyr2785Ter) c.7260C>A (p.Tyr2420Ter) c.3444C>A (p.Tyr1148Ter) c.2997C>A (p.Tyr999Ter) c.2334C>A (p.Tyr778Ter) c.6849C>A (p.Tyr2283Ter) n.8372C>A | |
5 | g.13792196T>A | CA359219753 | DNAH5 | c.8246A>T (p.Tyr2749Phe) c.8201A>T (p.Tyr2734Phe) n.8453A>T c.8354A>T (p.Tyr2785Phe) c.7259A>T (p.Tyr2420Phe) c.3443A>T (p.Tyr1148Phe) c.2996A>T (p.Tyr999Phe) c.2333A>T (p.Tyr778Phe) c.6848A>T (p.Tyr2283Phe) n.8371A>T | |
5 | g.13792196T>C | CA359219754 | DNAH5 | c.8246A>G (p.Tyr2749Cys) c.8201A>G (p.Tyr2734Cys) n.8453A>G c.8354A>G (p.Tyr2785Cys) c.7259A>G (p.Tyr2420Cys) c.3443A>G (p.Tyr1148Cys) c.2996A>G (p.Tyr999Cys) c.2333A>G (p.Tyr778Cys) c.6848A>G (p.Tyr2283Cys) n.8371A>G | ClinVar dbSNP gnomAD v4 |
5 | g.13792196T>G | CA359219756 | DNAH5 | c.8246A>C (p.Tyr2749Ser) c.8201A>C (p.Tyr2734Ser) n.8453A>C c.8354A>C (p.Tyr2785Ser) c.7259A>C (p.Tyr2420Ser) c.3443A>C (p.Tyr1148Ser) c.2996A>C (p.Tyr999Ser) c.2333A>C (p.Tyr778Ser) c.6848A>C (p.Tyr2283Ser) n.8371A>C | |
5 | g.13792196T= | CA1528441010 | DNAH5 | c.8246A= (p.Tyr2749=) c.8201A= (p.Tyr2734=) n.8453A= c.8354A= (p.Tyr2785=) c.7259A= (p.Tyr2420=) c.3443A= (p.Tyr1148=) c.2996A= (p.Tyr999=) c.2333A= (p.Tyr778=) c.6848A= (p.Tyr2283=) n.8371A= | |
5 | g.13792197A>C | CA359219760 | DNAH5 | c.8245T>G (p.Tyr2749Asp) c.8200T>G (p.Tyr2734Asp) n.8452T>G c.8353T>G (p.Tyr2785Asp) c.7258T>G (p.Tyr2420Asp) c.3442T>G (p.Tyr1148Asp) c.2995T>G (p.Tyr999Asp) c.2332T>G (p.Tyr778Asp) c.6847T>G (p.Tyr2283Asp) n.8370T>G | |
5 | g.13792197A>G | CA359219763 | DNAH5 | c.8245T>C (p.Tyr2749His) c.8200T>C (p.Tyr2734His) n.8452T>C c.8353T>C (p.Tyr2785His) c.7258T>C (p.Tyr2420His) c.3442T>C (p.Tyr1148His) c.2995T>C (p.Tyr999His) c.2332T>C (p.Tyr778His) c.6847T>C (p.Tyr2283His) n.8370T>C | |
5 | g.13792197A>T | CA359219767 | DNAH5 | c.8245T>A (p.Tyr2749Asn) c.8200T>A (p.Tyr2734Asn) n.8452T>A c.8353T>A (p.Tyr2785Asn) c.7258T>A (p.Tyr2420Asn) c.3442T>A (p.Tyr1148Asn) c.2995T>A (p.Tyr999Asn) c.2332T>A (p.Tyr778Asn) c.6847T>A (p.Tyr2283Asn) n.8370T>A | |
5 | g.13792198G>A | CA443264262 | DNAH5 | c.8244C>T (p.His2748=) c.8199C>T (p.His2733=) n.8451C>T c.8352C>T (p.His2784=) c.7257C>T (p.His2419=) c.3441C>T (p.His1147=) c.2994C>T (p.His998=) c.2331C>T (p.His777=) c.6846C>T (p.His2282=) n.8369C>T | gnomAD v4 |
5 | g.13792198G>C | CA359219770 | DNAH5 | c.8244C>G (p.His2748Gln) c.8199C>G (p.His2733Gln) n.8451C>G c.8352C>G (p.His2784Gln) c.7257C>G (p.His2419Gln) c.3441C>G (p.His1147Gln) c.2994C>G (p.His998Gln) c.2331C>G (p.His777Gln) c.6846C>G (p.His2282Gln) n.8369C>G | |
5 | g.13792198G>T | CA359219772 | DNAH5 | c.8244C>A (p.His2748Gln) c.8199C>A (p.His2733Gln) n.8451C>A c.8352C>A (p.His2784Gln) c.7257C>A (p.His2419Gln) c.3441C>A (p.His1147Gln) c.2994C>A (p.His998Gln) c.2331C>A (p.His777Gln) c.6846C>A (p.His2282Gln) n.8369C>A | |
5 | g.13792199T>A | CA359219777 | DNAH5 | c.8243A>T (p.His2748Leu) c.8198A>T (p.His2733Leu) n.8450A>T c.8351A>T (p.His2784Leu) c.7256A>T (p.His2419Leu) c.3440A>T (p.His1147Leu) c.2993A>T (p.His998Leu) c.2330A>T (p.His777Leu) c.6845A>T (p.His2282Leu) n.8368A>T | |
5 | g.13792199T>C | CA359219780 | DNAH5 | c.8243A>G (p.His2748Arg) c.8198A>G (p.His2733Arg) n.8450A>G c.8351A>G (p.His2784Arg) c.7256A>G (p.His2419Arg) c.3440A>G (p.His1147Arg) c.2993A>G (p.His998Arg) c.2330A>G (p.His777Arg) c.6845A>G (p.His2282Arg) n.8368A>G | |
5 | g.13792199T>G | CA359219789 | DNAH5 | c.8243A>C (p.His2748Pro) c.8198A>C (p.His2733Pro) n.8450A>C c.8351A>C (p.His2784Pro) c.7256A>C (p.His2419Pro) c.3440A>C (p.His1147Pro) c.2993A>C (p.His998Pro) c.2330A>C (p.His777Pro) c.6845A>C (p.His2282Pro) n.8368A>C | |
5 | g.13792200G>A | CA359219795 | DNAH5 | c.8242C>T (p.His2748Tyr) c.8197C>T (p.His2733Tyr) n.8449C>T c.8350C>T (p.His2784Tyr) c.7255C>T (p.His2419Tyr) c.3439C>T (p.His1147Tyr) c.2992C>T (p.His998Tyr) c.2329C>T (p.His777Tyr) c.6844C>T (p.His2282Tyr) n.8367C>T | |
5 | g.13792200G>C | CA359219797 | DNAH5 | c.8242C>G (p.His2748Asp) c.8197C>G (p.His2733Asp) n.8449C>G c.8350C>G (p.His2784Asp) c.7255C>G (p.His2419Asp) c.3439C>G (p.His1147Asp) c.2992C>G (p.His998Asp) c.2329C>G (p.His777Asp) c.6844C>G (p.His2282Asp) n.8367C>G | |
5 | g.13792200G>T | CA359219798 | DNAH5 | c.8242C>A (p.His2748Asn) c.8197C>A (p.His2733Asn) n.8449C>A c.8350C>A (p.His2784Asn) c.7255C>A (p.His2419Asn) c.3439C>A (p.His1147Asn) c.2992C>A (p.His998Asn) c.2329C>A (p.His777Asn) c.6844C>A (p.His2282Asn) n.8367C>A | |
5 | g.13792201G>A | CA443264272 | DNAH5 | c.8241C>T (p.Gly2747=) c.8196C>T (p.Gly2732=) n.8448C>T c.8349C>T (p.Gly2783=) c.7254C>T (p.Gly2418=) c.3438C>T (p.Gly1146=) c.2991C>T (p.Gly997=) c.2328C>T (p.Gly776=) c.6843C>T (p.Gly2281=) n.8366C>T | gnomAD v4 |
5 | g.13792201G>C | CA443264275 | DNAH5 | c.8241C>G (p.Gly2747=) c.8196C>G (p.Gly2732=) n.8448C>G c.8349C>G (p.Gly2783=) c.7254C>G (p.Gly2418=) c.3438C>G (p.Gly1146=) c.2991C>G (p.Gly997=) c.2328C>G (p.Gly776=) c.6843C>G (p.Gly2281=) n.8366C>G | |
5 | g.13792201G>T | CA443264279 | DNAH5 | c.8241C>A (p.Gly2747=) c.8196C>A (p.Gly2732=) n.8448C>A c.8349C>A (p.Gly2783=) c.7254C>A (p.Gly2418=) c.3438C>A (p.Gly1146=) c.2991C>A (p.Gly997=) c.2328C>A (p.Gly776=) c.6843C>A (p.Gly2281=) n.8366C>A | |
5 | g.13792202C>A | CA359219800 | DNAH5 | c.8240G>T (p.Gly2747Val) c.8195G>T (p.Gly2732Val) n.8447G>T c.8348G>T (p.Gly2783Val) c.7253G>T (p.Gly2418Val) c.3437G>T (p.Gly1146Val) c.2990G>T (p.Gly997Val) c.2327G>T (p.Gly776Val) c.6842G>T (p.Gly2281Val) n.8365G>T | gnomAD v4 |
5 | g.13792202C>G | CA359219811 | DNAH5 | c.8240G>C (p.Gly2747Ala) c.8195G>C (p.Gly2732Ala) n.8447G>C c.8348G>C (p.Gly2783Ala) c.7253G>C (p.Gly2418Ala) c.3437G>C (p.Gly1146Ala) c.2990G>C (p.Gly997Ala) c.2327G>C (p.Gly776Ala) c.6842G>C (p.Gly2281Ala) n.8365G>C | |
5 | g.13792202C>T | CA359219814 | DNAH5 | c.8240G>A (p.Gly2747Asp) c.8195G>A (p.Gly2732Asp) n.8447G>A c.8348G>A (p.Gly2783Asp) c.7253G>A (p.Gly2418Asp) c.3437G>A (p.Gly1146Asp) c.2990G>A (p.Gly997Asp) c.2327G>A (p.Gly776Asp) c.6842G>A (p.Gly2281Asp) n.8365G>A | |
5 | g.13792203C>A | CA359219822 | DNAH5 | c.8239G>T (p.Gly2747Cys) c.8194G>T (p.Gly2732Cys) n.8446G>T c.8347G>T (p.Gly2783Cys) c.7252G>T (p.Gly2418Cys) c.3436G>T (p.Gly1146Cys) c.2989G>T (p.Gly997Cys) c.2326G>T (p.Gly776Cys) c.6841G>T (p.Gly2281Cys) n.8364G>T | |
5 | g.13792203C>G | CA359219825 | DNAH5 | c.8239G>C (p.Gly2747Arg) c.8194G>C (p.Gly2732Arg) n.8446G>C c.8347G>C (p.Gly2783Arg) c.7252G>C (p.Gly2418Arg) c.3436G>C (p.Gly1146Arg) c.2989G>C (p.Gly997Arg) c.2326G>C (p.Gly776Arg) c.6841G>C (p.Gly2281Arg) n.8364G>C | |
5 | g.13792203C>T | CA359219826 | DNAH5 | c.8239G>A (p.Gly2747Ser) c.8194G>A (p.Gly2732Ser) n.8446G>A c.8347G>A (p.Gly2783Ser) c.7252G>A (p.Gly2418Ser) c.3436G>A (p.Gly1146Ser) c.2989G>A (p.Gly997Ser) c.2326G>A (p.Gly776Ser) c.6841G>A (p.Gly2281Ser) n.8364G>A | gnomAD v4 |
5 | g.13792204T>A | CA443264310 | DNAH5 | c.8238A>T (p.Val2746=) c.8193A>T (p.Val2731=) n.8445A>T c.8346A>T (p.Val2782=) c.7251A>T (p.Val2417=) c.3435A>T (p.Val1145=) c.2988A>T (p.Val996=) c.2325A>T (p.Val775=) c.6840A>T (p.Val2280=) n.8363A>T | |
5 | g.13792204T>C | CA443264314 | DNAH5 | c.8238A>G (p.Val2746=) c.8193A>G (p.Val2731=) n.8445A>G c.8346A>G (p.Val2782=) c.7251A>G (p.Val2417=) c.3435A>G (p.Val1145=) c.2988A>G (p.Val996=) c.2325A>G (p.Val775=) c.6840A>G (p.Val2280=) n.8363A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13792204T>G | CA443264315 | DNAH5 | c.8238A>C (p.Val2746=) c.8193A>C (p.Val2731=) n.8445A>C c.8346A>C (p.Val2782=) c.7251A>C (p.Val2417=) c.3435A>C (p.Val1145=) c.2988A>C (p.Val996=) c.2325A>C (p.Val775=) c.6840A>C (p.Val2280=) n.8363A>C | |
5 | g.13792204T= | CA1528441011 | DNAH5 | c.8238A= (p.Val2746=) c.8193A= (p.Val2731=) n.8445A= c.8346A= (p.Val2782=) c.7251A= (p.Val2417=) c.3435A= (p.Val1145=) c.2988A= (p.Val996=) c.2325A= (p.Val775=) c.6840A= (p.Val2280=) n.8363A= |