| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13770945A>C | CA359205261 | DNAH5 | c.9409T>G (p.Cys3137Gly) c.9364T>G (p.Cys3122Gly) n.121T>G c.9517T>G (p.Cys3173Gly) c.8422T>G (p.Cys2808Gly) c.4606T>G (p.Cys1536Gly) c.4159T>G (p.Cys1387Gly) c.3496T>G (p.Cys1166Gly) c.8011T>G (p.Cys2671Gly) | |
| 5 | g.13770945A>G | CA359205264 | DNAH5 | c.9409T>C (p.Cys3137Arg) c.9364T>C (p.Cys3122Arg) n.121T>C c.9517T>C (p.Cys3173Arg) c.8422T>C (p.Cys2808Arg) c.4606T>C (p.Cys1536Arg) c.4159T>C (p.Cys1387Arg) c.3496T>C (p.Cys1166Arg) c.8011T>C (p.Cys2671Arg) | gnomAD v4 |
| 5 | g.13770945A>T | CA359205265 | DNAH5 | c.9409T>A (p.Cys3137Ser) c.9364T>A (p.Cys3122Ser) n.121T>A c.9517T>A (p.Cys3173Ser) c.8422T>A (p.Cys2808Ser) c.4606T>A (p.Cys1536Ser) c.4159T>A (p.Cys1387Ser) c.3496T>A (p.Cys1166Ser) c.8011T>A (p.Cys2671Ser) | |
| 5 | g.13770946G>A | CA443535433 | DNAH5 | c.9408C>T (p.Asp3136=) c.9363C>T (p.Asp3121=) n.120C>T c.9516C>T (p.Asp3172=) c.8421C>T (p.Asp2807=) c.4605C>T (p.Asp1535=) c.4158C>T (p.Asp1386=) c.3495C>T (p.Asp1165=) c.8010C>T (p.Asp2670=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13770946G>C | CA359205267 | DNAH5 | c.9408C>G (p.Asp3136Glu) c.9363C>G (p.Asp3121Glu) n.120C>G c.9516C>G (p.Asp3172Glu) c.8421C>G (p.Asp2807Glu) c.4605C>G (p.Asp1535Glu) c.4158C>G (p.Asp1386Glu) c.3495C>G (p.Asp1165Glu) c.8010C>G (p.Asp2670Glu) | |
| 5 | g.13770946G= | CA1528431244 | DNAH5 | c.9408C= (p.Asp3136=) c.9363C= (p.Asp3121=) n.120C= c.9516C= (p.Asp3172=) c.8421C= (p.Asp2807=) c.4605C= (p.Asp1535=) c.4158C= (p.Asp1386=) c.3495C= (p.Asp1165=) c.8010C= (p.Asp2670=) | |
| 5 | g.13770946G>T | CA359205270 | DNAH5 | c.9408C>A (p.Asp3136Glu) c.9363C>A (p.Asp3121Glu) n.120C>A c.9516C>A (p.Asp3172Glu) c.8421C>A (p.Asp2807Glu) c.4605C>A (p.Asp1535Glu) c.4158C>A (p.Asp1386Glu) c.3495C>A (p.Asp1165Glu) c.8010C>A (p.Asp2670Glu) | |
| 5 | g.13770947T>A | CA359205279 | DNAH5 | c.9407A>T (p.Asp3136Val) c.9362A>T (p.Asp3121Val) n.119A>T c.9515A>T (p.Asp3172Val) c.8420A>T (p.Asp2807Val) c.4604A>T (p.Asp1535Val) c.4157A>T (p.Asp1386Val) c.3494A>T (p.Asp1165Val) c.8009A>T (p.Asp2670Val) | |
| 5 | g.13770947T>C | CA359205276 | DNAH5 | c.9407A>G (p.Asp3136Gly) c.9362A>G (p.Asp3121Gly) n.119A>G c.9515A>G (p.Asp3172Gly) c.8420A>G (p.Asp2807Gly) c.4604A>G (p.Asp1535Gly) c.4157A>G (p.Asp1386Gly) c.3494A>G (p.Asp1165Gly) c.8009A>G (p.Asp2670Gly) | gnomAD v4 |
| 5 | g.13770947T>G | CA3202550 | DNAH5 | c.9407A>C (p.Asp3136Ala) c.9362A>C (p.Asp3121Ala) n.119A>C c.9515A>C (p.Asp3172Ala) c.8420A>C (p.Asp2807Ala) c.4604A>C (p.Asp1535Ala) c.4157A>C (p.Asp1386Ala) c.3494A>C (p.Asp1165Ala) c.8009A>C (p.Asp2670Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13770947T= | CA1528431245 | DNAH5 | c.9407A= (p.Asp3136=) c.9362A= (p.Asp3121=) n.119A= c.9515A= (p.Asp3172=) c.8420A= (p.Asp2807=) c.4604A= (p.Asp1535=) c.4157A= (p.Asp1386=) c.3494A= (p.Asp1165=) c.8009A= (p.Asp2670=) | |
| 5 | g.13770948C>A | CA359205283 | DNAH5 | c.9406G>T (p.Asp3136Tyr) c.9361G>T (p.Asp3121Tyr) n.118G>T c.9514G>T (p.Asp3172Tyr) c.8419G>T (p.Asp2807Tyr) c.4603G>T (p.Asp1535Tyr) c.4156G>T (p.Asp1386Tyr) c.3493G>T (p.Asp1165Tyr) c.8008G>T (p.Asp2670Tyr) | |
| 5 | g.13770948C>G | CA359205284 | DNAH5 | c.9406G>C (p.Asp3136His) c.9361G>C (p.Asp3121His) n.118G>C c.9514G>C (p.Asp3172His) c.8419G>C (p.Asp2807His) c.4603G>C (p.Asp1535His) c.4156G>C (p.Asp1386His) c.3493G>C (p.Asp1165His) c.8008G>C (p.Asp2670His) | |
| 5 | g.13770948C>T | CA359205286 | DNAH5 | c.9406G>A (p.Asp3136Asn) c.9361G>A (p.Asp3121Asn) n.118G>A c.9514G>A (p.Asp3172Asn) c.8419G>A (p.Asp2807Asn) c.4603G>A (p.Asp1535Asn) c.4156G>A (p.Asp1386Asn) c.3493G>A (p.Asp1165Asn) c.8008G>A (p.Asp2670Asn) | |
| 5 | g.13770949A>C | CA359205287 | DNAH5 | c.9405T>G (p.Ile3135Met) c.9360T>G (p.Ile3120Met) n.117T>G c.9513T>G (p.Ile3171Met) c.8418T>G (p.Ile2806Met) c.4602T>G (p.Ile1534Met) c.4155T>G (p.Ile1385Met) c.3492T>G (p.Ile1164Met) c.8007T>G (p.Ile2669Met) | |
| 5 | g.13770949A>G | CA443535436 | DNAH5 | c.9405T>C (p.Ile3135=) c.9360T>C (p.Ile3120=) n.117T>C c.9513T>C (p.Ile3171=) c.8418T>C (p.Ile2806=) c.4602T>C (p.Ile1534=) c.4155T>C (p.Ile1385=) c.3492T>C (p.Ile1164=) c.8007T>C (p.Ile2669=) | |
| 5 | g.13770949A>T | CA443535437 | DNAH5 | c.9405T>A (p.Ile3135=) c.9360T>A (p.Ile3120=) n.117T>A c.9513T>A (p.Ile3171=) c.8418T>A (p.Ile2806=) c.4602T>A (p.Ile1534=) c.4155T>A (p.Ile1385=) c.3492T>A (p.Ile1164=) c.8007T>A (p.Ile2669=) | |
| 5 | g.13770950del | CA2673268303 | DNAH5 | c.9405del (p.Ile3135MetfsTer?) c.9360del (p.Ile3120MetfsTer?) n.117del c.9513del (p.Ile3171MetfsTer?) c.8418del (p.Ile2806MetfsTer?) c.4602del (p.Ile1534MetfsTer?) c.4155del (p.Ile1385MetfsTer?) c.3492del (p.Ile1164MetfsTer?) c.8007del (p.Ile2669MetfsTer?) | gnomAD v4 |
| 5 | g.13770949_13770953delinsAATAT | CA1528431246 | DNAH5 | c.9401_9405delinsATATT (p.Asp3134=) c.9356_9360delinsATATT (p.Asp3119=) n.113_117delinsATATT c.9509_9513delinsATATT (p.Asp3170=) c.8414_8418delinsATATT (p.Asp2805=) c.4598_4602delinsATATT (p.Asp1533=) c.4151_4155delinsATATT (p.Asp1384=) c.3488_3492delinsATATT (p.Asp1163=) c.8003_8007delinsATATT (p.Asp2668=) | |
| 5 | g.13770950A= | CA1528431248 | DNAH5 | c.9404T= (p.Ile3135=) c.9359T= (p.Ile3120=) n.116T= c.9512T= (p.Ile3171=) c.8417T= (p.Ile2806=) c.4601T= (p.Ile1534=) c.4154T= (p.Ile1385=) c.3491T= (p.Ile1164=) c.8006T= (p.Ile2669=) | |
| 5 | g.13770950A>C | CA359205289 | DNAH5 | c.9404T>G (p.Ile3135Ser) c.9359T>G (p.Ile3120Ser) n.116T>G c.9512T>G (p.Ile3171Ser) c.8417T>G (p.Ile2806Ser) c.4601T>G (p.Ile1534Ser) c.4154T>G (p.Ile1385Ser) c.3491T>G (p.Ile1164Ser) c.8006T>G (p.Ile2669Ser) | |
| 5 | g.13770950A>G | CA3202551 | DNAH5 | c.9404T>C (p.Ile3135Thr) c.9359T>C (p.Ile3120Thr) n.116T>C c.9512T>C (p.Ile3171Thr) c.8417T>C (p.Ile2806Thr) c.4601T>C (p.Ile1534Thr) c.4154T>C (p.Ile1385Thr) c.3491T>C (p.Ile1164Thr) c.8006T>C (p.Ile2669Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13770950A>T | CA359205292 | DNAH5 | c.9404T>A (p.Ile3135Asn) c.9359T>A (p.Ile3120Asn) n.116T>A c.9512T>A (p.Ile3171Asn) c.8417T>A (p.Ile2806Asn) c.4601T>A (p.Ile1534Asn) c.4154T>A (p.Ile1385Asn) c.3491T>A (p.Ile1164Asn) c.8006T>A (p.Ile2669Asn) | |
| 5 | g.13770950_13770953del | CA1528431247 | DNAH5 | c.9401_9404del (p.Asp3134ValfsTer?) c.9356_9359del (p.Asp3119ValfsTer?) n.113_116del c.9509_9512del (p.Asp3170ValfsTer?) c.8414_8417del (p.Asp2805ValfsTer?) c.4598_4601del (p.Asp1533ValfsTer?) c.4151_4154del (p.Asp1384ValfsTer?) c.3488_3491del (p.Asp1163ValfsTer?) c.8003_8006del (p.Asp2668ValfsTer?) | dbSNP |
| 5 | g.13770951T>A | CA359205294 | DNAH5 | c.9403A>T (p.Ile3135Phe) c.9358A>T (p.Ile3120Phe) n.115A>T c.9511A>T (p.Ile3171Phe) c.8416A>T (p.Ile2806Phe) c.4600A>T (p.Ile1534Phe) c.4153A>T (p.Ile1385Phe) c.3490A>T (p.Ile1164Phe) c.8005A>T (p.Ile2669Phe) | |
| 5 | g.13770951T>C | CA359205295 | DNAH5 | c.9403A>G (p.Ile3135Val) c.9358A>G (p.Ile3120Val) n.115A>G c.9511A>G (p.Ile3171Val) c.8416A>G (p.Ile2806Val) c.4600A>G (p.Ile1534Val) c.4153A>G (p.Ile1385Val) c.3490A>G (p.Ile1164Val) c.8005A>G (p.Ile2669Val) | dbSNP |
| 5 | g.13770951T>G | CA359205297 | DNAH5 | c.9403A>C (p.Ile3135Leu) c.9358A>C (p.Ile3120Leu) n.115A>C c.9511A>C (p.Ile3171Leu) c.8416A>C (p.Ile2806Leu) c.4600A>C (p.Ile1534Leu) c.4153A>C (p.Ile1385Leu) c.3490A>C (p.Ile1164Leu) c.8005A>C (p.Ile2669Leu) | |
| 5 | g.13770951T= | CA1528431249 | DNAH5 | c.9403A= (p.Ile3135=) c.9358A= (p.Ile3120=) n.115A= c.9511A= (p.Ile3171=) c.8416A= (p.Ile2806=) c.4600A= (p.Ile1534=) c.4153A= (p.Ile1385=) c.3490A= (p.Ile1164=) c.8005A= (p.Ile2669=) | |
| 5 | g.13770952A>C | CA359205298 | DNAH5 | c.9402T>G (p.Asp3134Glu) c.9357T>G (p.Asp3119Glu) n.114T>G c.9510T>G (p.Asp3170Glu) c.8415T>G (p.Asp2805Glu) c.4599T>G (p.Asp1533Glu) c.4152T>G (p.Asp1384Glu) c.3489T>G (p.Asp1163Glu) c.8004T>G (p.Asp2668Glu) | |
| 5 | g.13770952A>G | CA443535439 | DNAH5 | c.9402T>C (p.Asp3134=) c.9357T>C (p.Asp3119=) n.114T>C c.9510T>C (p.Asp3170=) c.8415T>C (p.Asp2805=) c.4599T>C (p.Asp1533=) c.4152T>C (p.Asp1384=) c.3489T>C (p.Asp1163=) c.8004T>C (p.Asp2668=) | ClinVar gnomAD v4 |
| 5 | g.13770952A>T | CA359205299 | DNAH5 | c.9402T>A (p.Asp3134Glu) c.9357T>A (p.Asp3119Glu) n.114T>A c.9510T>A (p.Asp3170Glu) c.8415T>A (p.Asp2805Glu) c.4599T>A (p.Asp1533Glu) c.4152T>A (p.Asp1384Glu) c.3489T>A (p.Asp1163Glu) c.8004T>A (p.Asp2668Glu) | |
| 5 | g.13770954_13770956del | CA2673268304 | DNAH5 | c.9400_9402del (p.Asp3134del) c.9355_9357del (p.Asp3119del) n.112_114del c.9508_9510del (p.Asp3170del) c.8413_8415del (p.Asp2805del) c.4597_4599del (p.Asp1533del) c.4150_4152del (p.Asp1384del) c.3487_3489del (p.Asp1163del) c.8002_8004del (p.Asp2668del) | gnomAD v4 |
| 5 | g.13770953T>A | CA359205304 | DNAH5 | c.9401A>T (p.Asp3134Val) c.9356A>T (p.Asp3119Val) n.113A>T c.9509A>T (p.Asp3170Val) c.8414A>T (p.Asp2805Val) c.4598A>T (p.Asp1533Val) c.4151A>T (p.Asp1384Val) c.3488A>T (p.Asp1163Val) c.8003A>T (p.Asp2668Val) | |
| 5 | g.13770953T>C | CA3202552 | DNAH5 | c.9401A>G (p.Asp3134Gly) c.9356A>G (p.Asp3119Gly) n.113A>G c.9509A>G (p.Asp3170Gly) c.8414A>G (p.Asp2805Gly) c.4598A>G (p.Asp1533Gly) c.4151A>G (p.Asp1384Gly) c.3488A>G (p.Asp1163Gly) c.8003A>G (p.Asp2668Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13770953T>G | CA359205301 | DNAH5 | c.9401A>C (p.Asp3134Ala) c.9356A>C (p.Asp3119Ala) n.113A>C c.9509A>C (p.Asp3170Ala) c.8414A>C (p.Asp2805Ala) c.4598A>C (p.Asp1533Ala) c.4151A>C (p.Asp1384Ala) c.3488A>C (p.Asp1163Ala) c.8003A>C (p.Asp2668Ala) | |
| 5 | g.13770953T= | CA1528431250 | DNAH5 | c.9401A= (p.Asp3134=) c.9356A= (p.Asp3119=) n.113A= c.9509A= (p.Asp3170=) c.8414A= (p.Asp2805=) c.4598A= (p.Asp1533=) c.4151A= (p.Asp1384=) c.3488A= (p.Asp1163=) c.8003A= (p.Asp2668=) | |
| 5 | g.13770954C>A | CA359205306 | DNAH5 | c.9400G>T (p.Asp3134Tyr) c.9355G>T (p.Asp3119Tyr) n.112G>T c.9508G>T (p.Asp3170Tyr) c.8413G>T (p.Asp2805Tyr) c.4597G>T (p.Asp1533Tyr) c.4150G>T (p.Asp1384Tyr) c.3487G>T (p.Asp1163Tyr) c.8002G>T (p.Asp2668Tyr) | |
| 5 | g.13770954C= | CA1528431251 | DNAH5 | c.9400G= (p.Asp3134=) c.9355G= (p.Asp3119=) n.112G= c.9508G= (p.Asp3170=) c.8413G= (p.Asp2805=) c.4597G= (p.Asp1533=) c.4150G= (p.Asp1384=) c.3487G= (p.Asp1163=) c.8002G= (p.Asp2668=) | |
| 5 | g.13770954C>G | CA359205309 | DNAH5 | c.9400G>C (p.Asp3134His) c.9355G>C (p.Asp3119His) n.112G>C c.9508G>C (p.Asp3170His) c.8413G>C (p.Asp2805His) c.4597G>C (p.Asp1533His) c.4150G>C (p.Asp1384His) c.3487G>C (p.Asp1163His) c.8002G>C (p.Asp2668His) | |
| 5 | g.13770954C>T | CA113933116 | DNAH5 | c.9400G>A (p.Asp3134Asn) c.9355G>A (p.Asp3119Asn) n.112G>A c.9508G>A (p.Asp3170Asn) c.8413G>A (p.Asp2805Asn) c.4597G>A (p.Asp1533Asn) c.4150G>A (p.Asp1384Asn) c.3487G>A (p.Asp1163Asn) c.8002G>A (p.Asp2668Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13770955A= | CA1528431252 | DNAH5 | c.9399T= (p.Tyr3133=) c.9354T= (p.Tyr3118=) n.111T= c.9507T= (p.Tyr3169=) c.8412T= (p.Tyr2804=) c.4596T= (p.Tyr1532=) c.4149T= (p.Tyr1383=) c.3486T= (p.Tyr1162=) c.8001T= (p.Tyr2667=) | |
| 5 | g.13770955A>C | CA359205311 | DNAH5 | c.9399T>G (p.Tyr3133Ter) c.9354T>G (p.Tyr3118Ter) n.111T>G c.9507T>G (p.Tyr3169Ter) c.8412T>G (p.Tyr2804Ter) c.4596T>G (p.Tyr1532Ter) c.4149T>G (p.Tyr1383Ter) c.3486T>G (p.Tyr1162Ter) c.8001T>G (p.Tyr2667Ter) | |
| 5 | g.13770955A>G | CA443535440 | DNAH5 | c.9399T>C (p.Tyr3133=) c.9354T>C (p.Tyr3118=) n.111T>C c.9507T>C (p.Tyr3169=) c.8412T>C (p.Tyr2804=) c.4596T>C (p.Tyr1532=) c.4149T>C (p.Tyr1383=) c.3486T>C (p.Tyr1162=) c.8001T>C (p.Tyr2667=) | dbSNP gnomAD v4 |
| 5 | g.13770955A>T | CA359205312 | DNAH5 | c.9399T>A (p.Tyr3133Ter) c.9354T>A (p.Tyr3118Ter) n.111T>A c.9507T>A (p.Tyr3169Ter) c.8412T>A (p.Tyr2804Ter) c.4596T>A (p.Tyr1532Ter) c.4149T>A (p.Tyr1383Ter) c.3486T>A (p.Tyr1162Ter) c.8001T>A (p.Tyr2667Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13770956T>A | CA359205315 | DNAH5 | c.9398A>T (p.Tyr3133Phe) c.9353A>T (p.Tyr3118Phe) n.110A>T c.9506A>T (p.Tyr3169Phe) c.8411A>T (p.Tyr2804Phe) c.4595A>T (p.Tyr1532Phe) c.4148A>T (p.Tyr1383Phe) c.3485A>T (p.Tyr1162Phe) c.8000A>T (p.Tyr2667Phe) | |
| 5 | g.13770956T>C | CA359205316 | DNAH5 | c.9398A>G (p.Tyr3133Cys) c.9353A>G (p.Tyr3118Cys) n.110A>G c.9506A>G (p.Tyr3169Cys) c.8411A>G (p.Tyr2804Cys) c.4595A>G (p.Tyr1532Cys) c.4148A>G (p.Tyr1383Cys) c.3485A>G (p.Tyr1162Cys) c.8000A>G (p.Tyr2667Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13770956T>G | CA359205319 | DNAH5 | c.9398A>C (p.Tyr3133Ser) c.9353A>C (p.Tyr3118Ser) n.110A>C c.9506A>C (p.Tyr3169Ser) c.8411A>C (p.Tyr2804Ser) c.4595A>C (p.Tyr1532Ser) c.4148A>C (p.Tyr1383Ser) c.3485A>C (p.Tyr1162Ser) c.8000A>C (p.Tyr2667Ser) | |
| 5 | g.13770956T= | CA1528431253 | DNAH5 | c.9398A= (p.Tyr3133=) c.9353A= (p.Tyr3118=) n.110A= c.9506A= (p.Tyr3169=) c.8411A= (p.Tyr2804=) c.4595A= (p.Tyr1532=) c.4148A= (p.Tyr1383=) c.3485A= (p.Tyr1162=) c.8000A= (p.Tyr2667=) | |
| 5 | g.13770957A>C | CA359205325 | DNAH5 | c.9397T>G (p.Tyr3133Asp) c.9352T>G (p.Tyr3118Asp) n.109T>G c.9505T>G (p.Tyr3169Asp) c.8410T>G (p.Tyr2804Asp) c.4594T>G (p.Tyr1532Asp) c.4147T>G (p.Tyr1383Asp) c.3484T>G (p.Tyr1162Asp) c.7999T>G (p.Tyr2667Asp) | |
| 5 | g.13770957A>G | CA359205326 | DNAH5 | c.9397T>C (p.Tyr3133His) c.9352T>C (p.Tyr3118His) n.109T>C c.9505T>C (p.Tyr3169His) c.8410T>C (p.Tyr2804His) c.4594T>C (p.Tyr1532His) c.4147T>C (p.Tyr1383His) c.3484T>C (p.Tyr1162His) c.7999T>C (p.Tyr2667His) | |
| 5 | g.13770957A>T | CA359205327 | DNAH5 | c.9397T>A (p.Tyr3133Asn) c.9352T>A (p.Tyr3118Asn) n.109T>A c.9505T>A (p.Tyr3169Asn) c.8410T>A (p.Tyr2804Asn) c.4594T>A (p.Tyr1532Asn) c.4147T>A (p.Tyr1383Asn) c.3484T>A (p.Tyr1162Asn) c.7999T>A (p.Tyr2667Asn) | |
| 5 | g.13770958G>A | CA443535444 | DNAH5 | c.9396C>T (p.Ser3132=) c.9351C>T (p.Ser3117=) n.108C>T c.9504C>T (p.Ser3168=) c.8409C>T (p.Ser2803=) c.4593C>T (p.Ser1531=) c.4146C>T (p.Ser1382=) c.3483C>T (p.Ser1161=) c.7998C>T (p.Ser2666=) | |
| 5 | g.13770958G>C | CA443535446 | DNAH5 | c.9396C>G (p.Ser3132=) c.9351C>G (p.Ser3117=) n.108C>G c.9504C>G (p.Ser3168=) c.8409C>G (p.Ser2803=) c.4593C>G (p.Ser1531=) c.4146C>G (p.Ser1382=) c.3483C>G (p.Ser1161=) c.7998C>G (p.Ser2666=) | |
| 5 | g.13770958G>T | CA443535445 | DNAH5 | c.9396C>A (p.Ser3132=) c.9351C>A (p.Ser3117=) n.108C>A c.9504C>A (p.Ser3168=) c.8409C>A (p.Ser2803=) c.4593C>A (p.Ser1531=) c.4146C>A (p.Ser1382=) c.3483C>A (p.Ser1161=) c.7998C>A (p.Ser2666=) | |
| 5 | g.13770959G>A | CA359205330 | DNAH5 | c.9395C>T (p.Ser3132Phe) c.9350C>T (p.Ser3117Phe) n.107C>T c.9503C>T (p.Ser3168Phe) c.8408C>T (p.Ser2803Phe) c.4592C>T (p.Ser1531Phe) c.4145C>T (p.Ser1382Phe) c.3482C>T (p.Ser1161Phe) c.7997C>T (p.Ser2666Phe) | COSMIC |
| 5 | g.13770959G>C | CA359205331 | DNAH5 | c.9395C>G (p.Ser3132Cys) c.9350C>G (p.Ser3117Cys) n.107C>G c.9503C>G (p.Ser3168Cys) c.8408C>G (p.Ser2803Cys) c.4592C>G (p.Ser1531Cys) c.4145C>G (p.Ser1382Cys) c.3482C>G (p.Ser1161Cys) c.7997C>G (p.Ser2666Cys) | |
| 5 | g.13770959G>T | CA359205332 | DNAH5 | c.9395C>A (p.Ser3132Tyr) c.9350C>A (p.Ser3117Tyr) n.107C>A c.9503C>A (p.Ser3168Tyr) c.8408C>A (p.Ser2803Tyr) c.4592C>A (p.Ser1531Tyr) c.4145C>A (p.Ser1382Tyr) c.3482C>A (p.Ser1161Tyr) c.7997C>A (p.Ser2666Tyr) | |
| 5 | g.13770960A>C | CA359205338 | DNAH5 | c.9394T>G (p.Ser3132Ala) c.9349T>G (p.Ser3117Ala) n.106T>G c.9502T>G (p.Ser3168Ala) c.8407T>G (p.Ser2803Ala) c.4591T>G (p.Ser1531Ala) c.4144T>G (p.Ser1382Ala) c.3481T>G (p.Ser1161Ala) c.7996T>G (p.Ser2666Ala) | |
| 5 | g.13770960A>G | CA359205336 | DNAH5 | c.9394T>C (p.Ser3132Pro) c.9349T>C (p.Ser3117Pro) n.106T>C c.9502T>C (p.Ser3168Pro) c.8407T>C (p.Ser2803Pro) c.4591T>C (p.Ser1531Pro) c.4144T>C (p.Ser1382Pro) c.3481T>C (p.Ser1161Pro) c.7996T>C (p.Ser2666Pro) | |
| 5 | g.13770960A>T | CA359205334 | DNAH5 | c.9394T>A (p.Ser3132Thr) c.9349T>A (p.Ser3117Thr) n.106T>A c.9502T>A (p.Ser3168Thr) c.8407T>A (p.Ser2803Thr) c.4591T>A (p.Ser1531Thr) c.4144T>A (p.Ser1382Thr) c.3481T>A (p.Ser1161Thr) c.7996T>A (p.Ser2666Thr) | gnomAD v4 |
| 5 | g.13770961A>C | CA443535448 | DNAH5 | c.9393T>G (p.Thr3131=) c.9348T>G (p.Thr3116=) n.105T>G c.9501T>G (p.Thr3167=) c.8406T>G (p.Thr2802=) c.4590T>G (p.Thr1530=) c.4143T>G (p.Thr1381=) c.3480T>G (p.Thr1160=) c.7995T>G (p.Thr2665=) | ClinVar |
| 5 | g.13770961A>G | CA443535449 | DNAH5 | c.9393T>C (p.Thr3131=) c.9348T>C (p.Thr3116=) n.105T>C c.9501T>C (p.Thr3167=) c.8406T>C (p.Thr2802=) c.4590T>C (p.Thr1530=) c.4143T>C (p.Thr1381=) c.3480T>C (p.Thr1160=) c.7995T>C (p.Thr2665=) | |
| 5 | g.13770961A>T | CA443535450 | DNAH5 | c.9393T>A (p.Thr3131=) c.9348T>A (p.Thr3116=) n.105T>A c.9501T>A (p.Thr3167=) c.8406T>A (p.Thr2802=) c.4590T>A (p.Thr1530=) c.4143T>A (p.Thr1381=) c.3480T>A (p.Thr1160=) c.7995T>A (p.Thr2665=) | |
| 5 | g.13770962G>A | CA359205341 | DNAH5 | c.9392C>T (p.Thr3131Ile) c.9347C>T (p.Thr3116Ile) n.104C>T c.9500C>T (p.Thr3167Ile) c.8405C>T (p.Thr2802Ile) c.4589C>T (p.Thr1530Ile) c.4142C>T (p.Thr1381Ile) c.3479C>T (p.Thr1160Ile) c.7994C>T (p.Thr2665Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13770962G>C | CA359205343 | DNAH5 | c.9392C>G (p.Thr3131Ser) c.9347C>G (p.Thr3116Ser) n.104C>G c.9500C>G (p.Thr3167Ser) c.8405C>G (p.Thr2802Ser) c.4589C>G (p.Thr1530Ser) c.4142C>G (p.Thr1381Ser) c.3479C>G (p.Thr1160Ser) c.7994C>G (p.Thr2665Ser) | |
| 5 | g.13770962G= | CA1528431254 | DNAH5 | c.9392C= (p.Thr3131=) c.9347C= (p.Thr3116=) n.104C= c.9500C= (p.Thr3167=) c.8405C= (p.Thr2802=) c.4589C= (p.Thr1530=) c.4142C= (p.Thr1381=) c.3479C= (p.Thr1160=) c.7994C= (p.Thr2665=) | |
| 5 | g.13770962G>T | CA359205345 | DNAH5 | c.9392C>A (p.Thr3131Asn) c.9347C>A (p.Thr3116Asn) n.104C>A c.9500C>A (p.Thr3167Asn) c.8405C>A (p.Thr2802Asn) c.4589C>A (p.Thr1530Asn) c.4142C>A (p.Thr1381Asn) c.3479C>A (p.Thr1160Asn) c.7994C>A (p.Thr2665Asn) | dbSNP |
| 5 | g.13770963T>A | CA3202553 | DNAH5 | c.9391A>T (p.Thr3131Ser) c.9346A>T (p.Thr3116Ser) n.103A>T c.9499A>T (p.Thr3167Ser) c.8404A>T (p.Thr2802Ser) c.4588A>T (p.Thr1530Ser) c.4141A>T (p.Thr1381Ser) c.3478A>T (p.Thr1160Ser) c.7993A>T (p.Thr2665Ser) | dbSNP ExAC gnomAD v4 |
| 5 | g.13770963T>C | CA359205348 | DNAH5 | c.9391A>G (p.Thr3131Ala) c.9346A>G (p.Thr3116Ala) n.103A>G c.9499A>G (p.Thr3167Ala) c.8404A>G (p.Thr2802Ala) c.4588A>G (p.Thr1530Ala) c.4141A>G (p.Thr1381Ala) c.3478A>G (p.Thr1160Ala) c.7993A>G (p.Thr2665Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13770963T>G | CA359205350 | DNAH5 | c.9391A>C (p.Thr3131Pro) c.9346A>C (p.Thr3116Pro) n.103A>C c.9499A>C (p.Thr3167Pro) c.8404A>C (p.Thr2802Pro) c.4588A>C (p.Thr1530Pro) c.4141A>C (p.Thr1381Pro) c.3478A>C (p.Thr1160Pro) c.7993A>C (p.Thr2665Pro) | gnomAD v4 |
| 5 | g.13770963T= | CA1528431255 | DNAH5 | c.9391A= (p.Thr3131=) c.9346A= (p.Thr3116=) n.103A= c.9499A= (p.Thr3167=) c.8404A= (p.Thr2802=) c.4588A= (p.Thr1530=) c.4141A= (p.Thr1381=) c.3478A= (p.Thr1160=) c.7993A= (p.Thr2665=) | |
| 5 | g.13770964G>A | CA443535451 | DNAH5 | c.9390C>T (p.Leu3130=) c.9345C>T (p.Leu3115=) n.102C>T c.9498C>T (p.Leu3166=) c.8403C>T (p.Leu2801=) c.4587C>T (p.Leu1529=) c.4140C>T (p.Leu1380=) c.3477C>T (p.Leu1159=) c.7992C>T (p.Leu2664=) | |
| 5 | g.13770964G>C | CA443535453 | DNAH5 | c.9390C>G (p.Leu3130=) c.9345C>G (p.Leu3115=) n.102C>G c.9498C>G (p.Leu3166=) c.8403C>G (p.Leu2801=) c.4587C>G (p.Leu1529=) c.4140C>G (p.Leu1380=) c.3477C>G (p.Leu1159=) c.7992C>G (p.Leu2664=) | |
| 5 | g.13770964G>T | CA443535452 | DNAH5 | c.9390C>A (p.Leu3130=) c.9345C>A (p.Leu3115=) n.102C>A c.9498C>A (p.Leu3166=) c.8403C>A (p.Leu2801=) c.4587C>A (p.Leu1529=) c.4140C>A (p.Leu1380=) c.3477C>A (p.Leu1159=) c.7992C>A (p.Leu2664=) | |
| 5 | g.13770965A>C | CA359205352 | DNAH5 | c.9389T>G (p.Leu3130Arg) c.9344T>G (p.Leu3115Arg) n.101T>G c.9497T>G (p.Leu3166Arg) c.8402T>G (p.Leu2801Arg) c.4586T>G (p.Leu1529Arg) c.4139T>G (p.Leu1380Arg) c.3476T>G (p.Leu1159Arg) c.7991T>G (p.Leu2664Arg) | |
| 5 | g.13770965A>G | CA359205355 | DNAH5 | c.9389T>C (p.Leu3130Pro) c.9344T>C (p.Leu3115Pro) n.101T>C c.9497T>C (p.Leu3166Pro) c.8402T>C (p.Leu2801Pro) c.4586T>C (p.Leu1529Pro) c.4139T>C (p.Leu1380Pro) c.3476T>C (p.Leu1159Pro) c.7991T>C (p.Leu2664Pro) | |
| 5 | g.13770965A>T | CA359205357 | DNAH5 | c.9389T>A (p.Leu3130His) c.9344T>A (p.Leu3115His) n.101T>A c.9497T>A (p.Leu3166His) c.8402T>A (p.Leu2801His) c.4586T>A (p.Leu1529His) c.4139T>A (p.Leu1380His) c.3476T>A (p.Leu1159His) c.7991T>A (p.Leu2664His) | |
| 5 | g.13770966G>A | CA359205359 | DNAH5 | c.9388C>T (p.Leu3130Phe) c.9343C>T (p.Leu3115Phe) n.100C>T c.9496C>T (p.Leu3166Phe) c.8401C>T (p.Leu2801Phe) c.4585C>T (p.Leu1529Phe) c.4138C>T (p.Leu1380Phe) c.3475C>T (p.Leu1159Phe) c.7990C>T (p.Leu2664Phe) | |
| 5 | g.13770966G>C | CA359205361 | DNAH5 | c.9388C>G (p.Leu3130Val) c.9343C>G (p.Leu3115Val) n.100C>G c.9496C>G (p.Leu3166Val) c.8401C>G (p.Leu2801Val) c.4585C>G (p.Leu1529Val) c.4138C>G (p.Leu1380Val) c.3475C>G (p.Leu1159Val) c.7990C>G (p.Leu2664Val) | |
| 5 | g.13770966G>T | CA359205366 | DNAH5 | c.9388C>A (p.Leu3130Ile) c.9343C>A (p.Leu3115Ile) n.100C>A c.9496C>A (p.Leu3166Ile) c.8401C>A (p.Leu2801Ile) c.4585C>A (p.Leu1529Ile) c.4138C>A (p.Leu1380Ile) c.3475C>A (p.Leu1159Ile) c.7990C>A (p.Leu2664Ile) | |
| 5 | g.13770967G>A | CA443535457 | DNAH5 | c.9387C>T (p.Phe3129=) c.9342C>T (p.Phe3114=) n.99C>T c.9495C>T (p.Phe3165=) c.8400C>T (p.Phe2800=) c.4584C>T (p.Phe1528=) c.4137C>T (p.Phe1379=) c.3474C>T (p.Phe1158=) c.7989C>T (p.Phe2663=) | ClinVar |
| 5 | g.13770967G>C | CA359205370 | DNAH5 | c.9387C>G (p.Phe3129Leu) c.9342C>G (p.Phe3114Leu) n.99C>G c.9495C>G (p.Phe3165Leu) c.8400C>G (p.Phe2800Leu) c.4584C>G (p.Phe1528Leu) c.4137C>G (p.Phe1379Leu) c.3474C>G (p.Phe1158Leu) c.7989C>G (p.Phe2663Leu) | |
| 5 | g.13770967G>T | CA359205368 | DNAH5 | c.9387C>A (p.Phe3129Leu) c.9342C>A (p.Phe3114Leu) n.99C>A c.9495C>A (p.Phe3165Leu) c.8400C>A (p.Phe2800Leu) c.4584C>A (p.Phe1528Leu) c.4137C>A (p.Phe1379Leu) c.3474C>A (p.Phe1158Leu) c.7989C>A (p.Phe2663Leu) | COSMIC |
| 5 | g.13770968A>C | CA359205374 | DNAH5 | c.9386T>G (p.Phe3129Cys) c.9341T>G (p.Phe3114Cys) n.98T>G c.9494T>G (p.Phe3165Cys) c.8399T>G (p.Phe2800Cys) c.4583T>G (p.Phe1528Cys) c.4136T>G (p.Phe1379Cys) c.3473T>G (p.Phe1158Cys) c.7988T>G (p.Phe2663Cys) | |
| 5 | g.13770968A>G | CA359205375 | DNAH5 | c.9386T>C (p.Phe3129Ser) c.9341T>C (p.Phe3114Ser) n.98T>C c.9494T>C (p.Phe3165Ser) c.8399T>C (p.Phe2800Ser) c.4583T>C (p.Phe1528Ser) c.4136T>C (p.Phe1379Ser) c.3473T>C (p.Phe1158Ser) c.7988T>C (p.Phe2663Ser) | |
| 5 | g.13770968A>T | CA359205377 | DNAH5 | c.9386T>A (p.Phe3129Tyr) c.9341T>A (p.Phe3114Tyr) n.98T>A c.9494T>A (p.Phe3165Tyr) c.8399T>A (p.Phe2800Tyr) c.4583T>A (p.Phe1528Tyr) c.4136T>A (p.Phe1379Tyr) c.3473T>A (p.Phe1158Tyr) c.7988T>A (p.Phe2663Tyr) | |
| 5 | g.13770969A= | CA1528431256 | DNAH5 | c.9385T= (p.Phe3129=) c.9340T= (p.Phe3114=) n.97T= c.9493T= (p.Phe3165=) c.8398T= (p.Phe2800=) c.4582T= (p.Phe1528=) c.4135T= (p.Phe1379=) c.3472T= (p.Phe1158=) c.7987T= (p.Phe2663=) | |
| 5 | g.13770969A>C | CA359205378 | DNAH5 | c.9385T>G (p.Phe3129Val) c.9340T>G (p.Phe3114Val) n.97T>G c.9493T>G (p.Phe3165Val) c.8398T>G (p.Phe2800Val) c.4582T>G (p.Phe1528Val) c.4135T>G (p.Phe1379Val) c.3472T>G (p.Phe1158Val) c.7987T>G (p.Phe2663Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13770969A>G | CA359205379 | DNAH5 | c.9385T>C (p.Phe3129Leu) c.9340T>C (p.Phe3114Leu) n.97T>C c.9493T>C (p.Phe3165Leu) c.8398T>C (p.Phe2800Leu) c.4582T>C (p.Phe1528Leu) c.4135T>C (p.Phe1379Leu) c.3472T>C (p.Phe1158Leu) c.7987T>C (p.Phe2663Leu) | |
| 5 | g.13770969A>T | CA359205381 | DNAH5 | c.9385T>A (p.Phe3129Ile) c.9340T>A (p.Phe3114Ile) n.97T>A c.9493T>A (p.Phe3165Ile) c.8398T>A (p.Phe2800Ile) c.4582T>A (p.Phe1528Ile) c.4135T>A (p.Phe1379Ile) c.3472T>A (p.Phe1158Ile) c.7987T>A (p.Phe2663Ile) | |
| 5 | g.13770970G>A | CA443535458 | DNAH5 | c.9384C>T (p.His3128=) c.9339C>T (p.His3113=) n.96C>T c.9492C>T (p.His3164=) c.8397C>T (p.His2799=) c.4581C>T (p.His1527=) c.4134C>T (p.His1378=) c.3471C>T (p.His1157=) c.7986C>T (p.His2662=) | |
| 5 | g.13770970G>C | CA359205383 | DNAH5 | c.9384C>G (p.His3128Gln) c.9339C>G (p.His3113Gln) n.96C>G c.9492C>G (p.His3164Gln) c.8397C>G (p.His2799Gln) c.4581C>G (p.His1527Gln) c.4134C>G (p.His1378Gln) c.3471C>G (p.His1157Gln) c.7986C>G (p.His2662Gln) | |
| 5 | g.13770970G>T | CA359205389 | DNAH5 | c.9384C>A (p.His3128Gln) c.9339C>A (p.His3113Gln) n.96C>A c.9492C>A (p.His3164Gln) c.8397C>A (p.His2799Gln) c.4581C>A (p.His1527Gln) c.4134C>A (p.His1378Gln) c.3471C>A (p.His1157Gln) c.7986C>A (p.His2662Gln) | |
| 5 | g.13770971T>A | CA359205391 | DNAH5 | c.9383A>T (p.His3128Leu) c.9338A>T (p.His3113Leu) n.95A>T c.9491A>T (p.His3164Leu) c.8396A>T (p.His2799Leu) c.4580A>T (p.His1527Leu) c.4133A>T (p.His1378Leu) c.3470A>T (p.His1157Leu) c.7985A>T (p.His2662Leu) | |
| 5 | g.13770971T>C | CA359205393 | DNAH5 | c.9383A>G (p.His3128Arg) c.9338A>G (p.His3113Arg) n.95A>G c.9491A>G (p.His3164Arg) c.8396A>G (p.His2799Arg) c.4580A>G (p.His1527Arg) c.4133A>G (p.His1378Arg) c.3470A>G (p.His1157Arg) c.7985A>G (p.His2662Arg) | |
| 5 | g.13770971T>G | CA359205394 | DNAH5 | c.9383A>C (p.His3128Pro) c.9338A>C (p.His3113Pro) n.95A>C c.9491A>C (p.His3164Pro) c.8396A>C (p.His2799Pro) c.4580A>C (p.His1527Pro) c.4133A>C (p.His1378Pro) c.3470A>C (p.His1157Pro) c.7985A>C (p.His2662Pro) | |
| 5 | g.13770972G>A | CA3202554 | DNAH5 | c.9382C>T (p.His3128Tyr) c.9337C>T (p.His3113Tyr) n.94C>T c.9490C>T (p.His3164Tyr) c.8395C>T (p.His2799Tyr) c.4579C>T (p.His1527Tyr) c.4132C>T (p.His1378Tyr) c.3469C>T (p.His1157Tyr) c.7984C>T (p.His2662Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13770972G>C | CA359205397 | DNAH5 | c.9382C>G (p.His3128Asp) c.9337C>G (p.His3113Asp) n.94C>G c.9490C>G (p.His3164Asp) c.8395C>G (p.His2799Asp) c.4579C>G (p.His1527Asp) c.4132C>G (p.His1378Asp) c.3469C>G (p.His1157Asp) c.7984C>G (p.His2662Asp) | |
| 5 | g.13770972G= | CA1528431257 | DNAH5 | c.9382C= (p.His3128=) c.9337C= (p.His3113=) n.94C= c.9490C= (p.His3164=) c.8395C= (p.His2799=) c.4579C= (p.His1527=) c.4132C= (p.His1378=) c.3469C= (p.His1157=) c.7984C= (p.His2662=) | |
| 5 | g.13770972G>T | CA359205399 | DNAH5 | c.9382C>A (p.His3128Asn) c.9337C>A (p.His3113Asn) n.94C>A c.9490C>A (p.His3164Asn) c.8395C>A (p.His2799Asn) c.4579C>A (p.His1527Asn) c.4132C>A (p.His1378Asn) c.3469C>A (p.His1157Asn) c.7984C>A (p.His2662Asn) | |
| 5 | g.13770973T>A | CA359205402 | DNAH5 | c.9381A>T (p.Glu3127Asp) c.9336A>T (p.Glu3112Asp) n.93A>T c.9489A>T (p.Glu3163Asp) c.8394A>T (p.Glu2798Asp) c.4578A>T (p.Glu1526Asp) c.4131A>T (p.Glu1377Asp) c.3468A>T (p.Glu1156Asp) c.7983A>T (p.Glu2661Asp) | |
| 5 | g.13770973T>C | CA443535460 | DNAH5 | c.9381A>G (p.Glu3127=) c.9336A>G (p.Glu3112=) n.93A>G c.9489A>G (p.Glu3163=) c.8394A>G (p.Glu2798=) c.4578A>G (p.Glu1526=) c.4131A>G (p.Glu1377=) c.3468A>G (p.Glu1156=) c.7983A>G (p.Glu2661=) | |
| 5 | g.13770973T>G | CA359205403 | DNAH5 | c.9381A>C (p.Glu3127Asp) c.9336A>C (p.Glu3112Asp) n.93A>C c.9489A>C (p.Glu3163Asp) c.8394A>C (p.Glu2798Asp) c.4578A>C (p.Glu1526Asp) c.4131A>C (p.Glu1377Asp) c.3468A>C (p.Glu1156Asp) c.7983A>C (p.Glu2661Asp) | |
| 5 | g.13770974T>A | CA359205405 | DNAH5 | c.9380A>T (p.Glu3127Val) c.9335A>T (p.Glu3112Val) n.92A>T c.9488A>T (p.Glu3163Val) c.8393A>T (p.Glu2798Val) c.4577A>T (p.Glu1526Val) c.4130A>T (p.Glu1377Val) c.3467A>T (p.Glu1156Val) c.7982A>T (p.Glu2661Val) | |
| 5 | g.13770974T>C | CA359205407 | DNAH5 | c.9380A>G (p.Glu3127Gly) c.9335A>G (p.Glu3112Gly) n.92A>G c.9488A>G (p.Glu3163Gly) c.8393A>G (p.Glu2798Gly) c.4577A>G (p.Glu1526Gly) c.4130A>G (p.Glu1377Gly) c.3467A>G (p.Glu1156Gly) c.7982A>G (p.Glu2661Gly) | |
| 5 | g.13770974T>G | CA359205408 | DNAH5 | c.9380A>C (p.Glu3127Ala) c.9335A>C (p.Glu3112Ala) n.92A>C c.9488A>C (p.Glu3163Ala) c.8393A>C (p.Glu2798Ala) c.4577A>C (p.Glu1526Ala) c.4130A>C (p.Glu1377Ala) c.3467A>C (p.Glu1156Ala) c.7982A>C (p.Glu2661Ala) | |
| 5 | g.13770975C>A | CA113933156 | DNAH5 | c.9379G>T (p.Glu3127Ter) c.9334G>T (p.Glu3112Ter) n.91G>T c.9487G>T (p.Glu3163Ter) c.8392G>T (p.Glu2798Ter) c.4576G>T (p.Glu1526Ter) c.4129G>T (p.Glu1377Ter) c.3466G>T (p.Glu1156Ter) c.7981G>T (p.Glu2661Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13770975C= | CA1528431258 | DNAH5 | c.9379G= (p.Glu3127=) c.9334G= (p.Glu3112=) n.91G= c.9487G= (p.Glu3163=) c.8392G= (p.Glu2798=) c.4576G= (p.Glu1526=) c.4129G= (p.Glu1377=) c.3466G= (p.Glu1156=) c.7981G= (p.Glu2661=) | |
| 5 | g.13770975C>G | CA359205411 | DNAH5 | c.9379G>C (p.Glu3127Gln) c.9334G>C (p.Glu3112Gln) n.91G>C c.9487G>C (p.Glu3163Gln) c.8392G>C (p.Glu2798Gln) c.4576G>C (p.Glu1526Gln) c.4129G>C (p.Glu1377Gln) c.3466G>C (p.Glu1156Gln) c.7981G>C (p.Glu2661Gln) | |
| 5 | g.13770975C>T | CA359205412 | DNAH5 | c.9379G>A (p.Glu3127Lys) c.9334G>A (p.Glu3112Lys) n.91G>A c.9487G>A (p.Glu3163Lys) c.8392G>A (p.Glu2798Lys) c.4576G>A (p.Glu1526Lys) c.4129G>A (p.Glu1377Lys) c.3466G>A (p.Glu1156Lys) c.7981G>A (p.Glu2661Lys) | |
| 5 | g.13770976A>C | CA443535463 | DNAH5 | c.9378T>G (p.Ser3126=) c.9333T>G (p.Ser3111=) n.90T>G c.9486T>G (p.Ser3162=) c.8391T>G (p.Ser2797=) c.4575T>G (p.Ser1525=) c.4128T>G (p.Ser1376=) c.3465T>G (p.Ser1155=) c.7980T>G (p.Ser2660=) | |
| 5 | g.13770976A>G | CA443535464 | DNAH5 | c.9378T>C (p.Ser3126=) c.9333T>C (p.Ser3111=) n.90T>C c.9486T>C (p.Ser3162=) c.8391T>C (p.Ser2797=) c.4575T>C (p.Ser1525=) c.4128T>C (p.Ser1376=) c.3465T>C (p.Ser1155=) c.7980T>C (p.Ser2660=) | |
| 5 | g.13770976A>T | CA443535466 | DNAH5 | c.9378T>A (p.Ser3126=) c.9333T>A (p.Ser3111=) n.90T>A c.9486T>A (p.Ser3162=) c.8391T>A (p.Ser2797=) c.4575T>A (p.Ser1525=) c.4128T>A (p.Ser1376=) c.3465T>A (p.Ser1155=) c.7980T>A (p.Ser2660=) | |
| 5 | g.13770977G>A | CA359205413 | DNAH5 | c.9377C>T (p.Ser3126Phe) c.9332C>T (p.Ser3111Phe) n.89C>T c.9485C>T (p.Ser3162Phe) c.8390C>T (p.Ser2797Phe) c.4574C>T (p.Ser1525Phe) c.4127C>T (p.Ser1376Phe) c.3464C>T (p.Ser1155Phe) c.7979C>T (p.Ser2660Phe) | |
| 5 | g.13770977G>C | CA359205414 | DNAH5 | c.9377C>G (p.Ser3126Cys) c.9332C>G (p.Ser3111Cys) n.89C>G c.9485C>G (p.Ser3162Cys) c.8390C>G (p.Ser2797Cys) c.4574C>G (p.Ser1525Cys) c.4127C>G (p.Ser1376Cys) c.3464C>G (p.Ser1155Cys) c.7979C>G (p.Ser2660Cys) | |
| 5 | g.13770977G>T | CA359205415 | DNAH5 | c.9377C>A (p.Ser3126Tyr) c.9332C>A (p.Ser3111Tyr) n.89C>A c.9485C>A (p.Ser3162Tyr) c.8390C>A (p.Ser2797Tyr) c.4574C>A (p.Ser1525Tyr) c.4127C>A (p.Ser1376Tyr) c.3464C>A (p.Ser1155Tyr) c.7979C>A (p.Ser2660Tyr) | |
| 5 | g.13770978A= | CA1528431259 | DNAH5 | c.9376T= (p.Ser3126=) c.9331T= (p.Ser3111=) n.88T= c.9484T= (p.Ser3162=) c.8389T= (p.Ser2797=) c.4573T= (p.Ser1525=) c.4126T= (p.Ser1376=) c.3463T= (p.Ser1155=) c.7978T= (p.Ser2660=) | |
| 5 | g.13770978A>C | CA359205416 | DNAH5 | c.9376T>G (p.Ser3126Ala) c.9331T>G (p.Ser3111Ala) n.88T>G c.9484T>G (p.Ser3162Ala) c.8389T>G (p.Ser2797Ala) c.4573T>G (p.Ser1525Ala) c.4126T>G (p.Ser1376Ala) c.3463T>G (p.Ser1155Ala) c.7978T>G (p.Ser2660Ala) | |
| 5 | g.13770978A>G | CA359205417 | DNAH5 | c.9376T>C (p.Ser3126Pro) c.9331T>C (p.Ser3111Pro) n.88T>C c.9484T>C (p.Ser3162Pro) c.8389T>C (p.Ser2797Pro) c.4573T>C (p.Ser1525Pro) c.4126T>C (p.Ser1376Pro) c.3463T>C (p.Ser1155Pro) c.7978T>C (p.Ser2660Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13770978A>T | CA359205419 | DNAH5 | c.9376T>A (p.Ser3126Thr) c.9331T>A (p.Ser3111Thr) n.88T>A c.9484T>A (p.Ser3162Thr) c.8389T>A (p.Ser2797Thr) c.4573T>A (p.Ser1525Thr) c.4126T>A (p.Ser1376Thr) c.3463T>A (p.Ser1155Thr) c.7978T>A (p.Ser2660Thr) | |
| 5 | g.13770979C>A | CA443535468 | DNAH5 | c.9375G>T (p.Val3125=) c.9330G>T (p.Val3110=) n.87G>T c.9483G>T (p.Val3161=) c.8388G>T (p.Val2796=) c.4572G>T (p.Val1524=) c.4125G>T (p.Val1375=) c.3462G>T (p.Val1154=) c.7977G>T (p.Val2659=) | gnomAD v4 |
| 5 | g.13770979C>G | CA443535467 | DNAH5 | c.9375G>C (p.Val3125=) c.9330G>C (p.Val3110=) n.87G>C c.9483G>C (p.Val3161=) c.8388G>C (p.Val2796=) c.4572G>C (p.Val1524=) c.4125G>C (p.Val1375=) c.3462G>C (p.Val1154=) c.7977G>C (p.Val2659=) | |
| 5 | g.13770979C>T | CA443535469 | DNAH5 | c.9375G>A (p.Val3125=) c.9330G>A (p.Val3110=) n.87G>A c.9483G>A (p.Val3161=) c.8388G>A (p.Val2796=) c.4572G>A (p.Val1524=) c.4125G>A (p.Val1375=) c.3462G>A (p.Val1154=) c.7977G>A (p.Val2659=) | gnomAD v4 |
| 5 | g.13770980A>C | CA359205424 | DNAH5 | c.9374T>G (p.Val3125Gly) c.9329T>G (p.Val3110Gly) n.86T>G c.9482T>G (p.Val3161Gly) c.8387T>G (p.Val2796Gly) c.4571T>G (p.Val1524Gly) c.4124T>G (p.Val1375Gly) c.3461T>G (p.Val1154Gly) c.7976T>G (p.Val2659Gly) | |
| 5 | g.13770980A>G | CA359205423 | DNAH5 | c.9374T>C (p.Val3125Ala) c.9329T>C (p.Val3110Ala) n.86T>C c.9482T>C (p.Val3161Ala) c.8387T>C (p.Val2796Ala) c.4571T>C (p.Val1524Ala) c.4124T>C (p.Val1375Ala) c.3461T>C (p.Val1154Ala) c.7976T>C (p.Val2659Ala) | |
| 5 | g.13770980A>T | CA359205421 | DNAH5 | c.9374T>A (p.Val3125Glu) c.9329T>A (p.Val3110Glu) n.86T>A c.9482T>A (p.Val3161Glu) c.8387T>A (p.Val2796Glu) c.4571T>A (p.Val1524Glu) c.4124T>A (p.Val1375Glu) c.3461T>A (p.Val1154Glu) c.7976T>A (p.Val2659Glu) | |
| 5 | g.13770981C>A | CA359205425 | DNAH5 | c.9374-1G>T (n.9374-1G>T) c.9329-1G>T (n.9329-1G>T) n.86-1G>T c.9482-1G>T (n.9482-1G>T) c.8387-1G>T (n.8387-1G>T) c.4571-1G>T (n.4571-1G>T) c.4124-1G>T (n.4124-1G>T) c.3461-1G>T (n.3461-1G>T) c.7976-1G>T (n.7976-1G>T) | |
| 5 | g.13770981C>G | CA359205428 | DNAH5 | c.9374-1G>C (n.9374-1G>C) c.9329-1G>C (n.9329-1G>C) n.86-1G>C c.9482-1G>C (n.9482-1G>C) c.8387-1G>C (n.8387-1G>C) c.4571-1G>C (n.4571-1G>C) c.4124-1G>C (n.4124-1G>C) c.3461-1G>C (n.3461-1G>C) c.7976-1G>C (n.7976-1G>C) | |
| 5 | g.13770981C>T | CA359205427 | DNAH5 | c.9374-1G>A (n.9374-1G>A) c.9329-1G>A (n.9329-1G>A) n.86-1G>A c.9482-1G>A (n.9482-1G>A) c.8387-1G>A (n.8387-1G>A) c.4571-1G>A (n.4571-1G>A) c.4124-1G>A (n.4124-1G>A) c.3461-1G>A (n.3461-1G>A) c.7976-1G>A (n.7976-1G>A) | |
| 5 | g.13770982T>A | CA359205429 | DNAH5 | c.9374-2A>T (n.9374-2A>T) c.9329-2A>T (n.9329-2A>T) n.86-2A>T c.9482-2A>T (n.9482-2A>T) c.8387-2A>T (n.8387-2A>T) c.4571-2A>T (n.4571-2A>T) c.4124-2A>T (n.4124-2A>T) c.3461-2A>T (n.3461-2A>T) c.7976-2A>T (n.7976-2A>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13770982T>C | CA359205431 | DNAH5 | c.9374-2A>G (n.9374-2A>G) c.9329-2A>G (n.9329-2A>G) n.86-2A>G c.9482-2A>G (n.9482-2A>G) c.8387-2A>G (n.8387-2A>G) c.4571-2A>G (n.4571-2A>G) c.4124-2A>G (n.4124-2A>G) c.3461-2A>G (n.3461-2A>G) c.7976-2A>G (n.7976-2A>G) | gnomAD v4 |
| 5 | g.13770982T>G | CA359205430 | DNAH5 | c.9374-2A>C (n.9374-2A>C) c.9329-2A>C (n.9329-2A>C) n.86-2A>C c.9482-2A>C (n.9482-2A>C) c.8387-2A>C (n.8387-2A>C) c.4571-2A>C (n.4571-2A>C) c.4124-2A>C (n.4124-2A>C) c.3461-2A>C (n.3461-2A>C) c.7976-2A>C (n.7976-2A>C) | |
| 5 | g.13770982T= | CA1528431260 | DNAH5 | c.9374-2A= (n.9374-2A=) c.9329-2A= (n.9329-2A=) n.86-2A= c.9482-2A= (n.9482-2A=) c.8387-2A= (n.8387-2A=) c.4571-2A= (n.4571-2A=) c.4124-2A= (n.4124-2A=) c.3461-2A= (n.3461-2A=) c.7976-2A= (n.7976-2A=) | |
| 5 | g.13770982_13770983insGTCATCTTTATTCTCTCTAGTGTCTG | CA2673268305 | DNAH5 | c.9374-3_9374-2insCAGACACTAGAGAGAATAAAGATGAC (n.9374-3_9374-2insCAGACACTAGAGAGAATAAAGATGAC) c.9329-3_9329-2insCAGACACTAGAGAGAATAAAGATGAC (n.9329-3_9329-2insCAGACACTAGAGAGAATAAAGATGAC) n.86-3_86-2insCAGACACTAGAGAGAATAAAGATGAC c.9482-3_9482-2insCAGACACTAGAGAGAATAAAGATGAC (n.9482-3_9482-2insCAGACACTAGAGAGAATAAAGATGAC) c.8387-3_8387-2insCAGACACTAGAGAGAATAAAGATGAC (n.8387-3_8387-2insCAGACACTAGAGAGAATAAAGATGAC) c.4571-3_4571-2insCAGACACTAGAGAGAATAAAGATGAC (n.4571-3_4571-2insCAGACACTAGAGAGAATAAAGATGAC) c.4124-3_4124-2insCAGACACTAGAGAGAATAAAGATGAC (n.4124-3_4124-2insCAGACACTAGAGAGAATAAAGATGAC) c.3461-3_3461-2insCAGACACTAGAGAGAATAAAGATGAC (n.3461-3_3461-2insCAGACACTAGAGAGAATAAAGATGAC) c.7976-3_7976-2insCAGACACTAGAGAGAATAAAGATGAC (n.7976-3_7976-2insCAGACACTAGAGAGAATAAAGATGAC) | gnomAD v4 |
| 5 | g.13770984G>C | CA2578270102 | DNAH5 | c.9374-4C>G (n.9374-4C>G) c.9329-4C>G (n.9329-4C>G) n.86-4C>G c.9482-4C>G (n.9482-4C>G) c.8387-4C>G (n.8387-4C>G) c.4571-4C>G (n.4571-4C>G) c.4124-4C>G (n.4124-4C>G) c.3461-4C>G (n.3461-4C>G) c.7976-4C>G (n.7976-4C>G) | |
| 5 | g.13770984G>T | CA2673268306 | DNAH5 | c.9374-4C>A (n.9374-4C>A) c.9329-4C>A (n.9329-4C>A) n.86-4C>A c.9482-4C>A (n.9482-4C>A) c.8387-4C>A (n.8387-4C>A) c.4571-4C>A (n.4571-4C>A) c.4124-4C>A (n.4124-4C>A) c.3461-4C>A (n.3461-4C>A) c.7976-4C>A (n.7976-4C>A) | gnomAD v4 |
| 5 | g.13770985A= | CA1528431261 | DNAH5 | c.9374-5T= (n.9374-5T=) c.9329-5T= (n.9329-5T=) n.86-5T= c.9482-5T= (n.9482-5T=) c.8387-5T= (n.8387-5T=) c.4571-5T= (n.4571-5T=) c.4124-5T= (n.4124-5T=) c.3461-5T= (n.3461-5T=) c.7976-5T= (n.7976-5T=) | |
| 5 | g.13770985A>G | CA113933175 | DNAH5 | c.9374-5T>C (n.9374-5T>C) c.9329-5T>C (n.9329-5T>C) n.86-5T>C c.9482-5T>C (n.9482-5T>C) c.8387-5T>C (n.8387-5T>C) c.4571-5T>C (n.4571-5T>C) c.4124-5T>C (n.4124-5T>C) c.3461-5T>C (n.3461-5T>C) c.7976-5T>C (n.7976-5T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13770986G>A | CA3202555 | DNAH5 | c.9374-6C>T (n.9374-6C>T) c.9329-6C>T (n.9329-6C>T) n.86-6C>T c.9482-6C>T (n.9482-6C>T) c.8387-6C>T (n.8387-6C>T) c.4571-6C>T (n.4571-6C>T) c.4124-6C>T (n.4124-6C>T) c.3461-6C>T (n.3461-6C>T) c.7976-6C>T (n.7976-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13770986G>C | CA2578270103 | DNAH5 | c.9374-6C>G (n.9374-6C>G) c.9329-6C>G (n.9329-6C>G) n.86-6C>G c.9482-6C>G (n.9482-6C>G) c.8387-6C>G (n.8387-6C>G) c.4571-6C>G (n.4571-6C>G) c.4124-6C>G (n.4124-6C>G) c.3461-6C>G (n.3461-6C>G) c.7976-6C>G (n.7976-6C>G) | |
| 5 | g.13770986G= | CA1528431262 | DNAH5 | c.9374-6C= (n.9374-6C=) c.9329-6C= (n.9329-6C=) n.86-6C= c.9482-6C= (n.9482-6C=) c.8387-6C= (n.8387-6C=) c.4571-6C= (n.4571-6C=) c.4124-6C= (n.4124-6C=) c.3461-6C= (n.3461-6C=) c.7976-6C= (n.7976-6C=) | |
| 5 | g.13770988G>A | CA2580072366 | DNAH5 | c.9374-8C>T (n.9374-8C>T) c.9329-8C>T (n.9329-8C>T) n.86-8C>T c.9482-8C>T (n.9482-8C>T) c.8387-8C>T (n.8387-8C>T) c.4571-8C>T (n.4571-8C>T) c.4124-8C>T (n.4124-8C>T) c.3461-8C>T (n.3461-8C>T) c.7976-8C>T (n.7976-8C>T) | ClinVar |
| 5 | g.13770988G>C | CA3202556 | DNAH5 | c.9374-8C>G (n.9374-8C>G) c.9329-8C>G (n.9329-8C>G) n.86-8C>G c.9482-8C>G (n.9482-8C>G) c.8387-8C>G (n.8387-8C>G) c.4571-8C>G (n.4571-8C>G) c.4124-8C>G (n.4124-8C>G) c.3461-8C>G (n.3461-8C>G) c.7976-8C>G (n.7976-8C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13770988G= | CA1528431263 | DNAH5 | c.9374-8C= (n.9374-8C=) c.9329-8C= (n.9329-8C=) n.86-8C= c.9482-8C= (n.9482-8C=) c.8387-8C= (n.8387-8C=) c.4571-8C= (n.4571-8C=) c.4124-8C= (n.4124-8C=) c.3461-8C= (n.3461-8C=) c.7976-8C= (n.7976-8C=) | |
| 5 | g.13770988G>T | CA2673268307 | DNAH5 | c.9374-8C>A (n.9374-8C>A) c.9329-8C>A (n.9329-8C>A) n.86-8C>A c.9482-8C>A (n.9482-8C>A) c.8387-8C>A (n.8387-8C>A) c.4571-8C>A (n.4571-8C>A) c.4124-8C>A (n.4124-8C>A) c.3461-8C>A (n.3461-8C>A) c.7976-8C>A (n.7976-8C>A) | gnomAD v4 |
| 5 | g.13770989A= | CA1528431264 | DNAH5 | c.9374-9T= (n.9374-9T=) c.9329-9T= (n.9329-9T=) n.86-9T= c.9482-9T= (n.9482-9T=) c.8387-9T= (n.8387-9T=) c.4571-9T= (n.4571-9T=) c.4124-9T= (n.4124-9T=) c.3461-9T= (n.3461-9T=) c.7976-9T= (n.7976-9T=) | |
| 5 | g.13770989A>T | CA3202557 | DNAH5 | c.9374-9T>A (n.9374-9T>A) c.9329-9T>A (n.9329-9T>A) n.86-9T>A c.9482-9T>A (n.9482-9T>A) c.8387-9T>A (n.8387-9T>A) c.4571-9T>A (n.4571-9T>A) c.4124-9T>A (n.4124-9T>A) c.3461-9T>A (n.3461-9T>A) c.7976-9T>A (n.7976-9T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13770991T>C | CA2673268308 | DNAH5 | c.9374-11A>G (n.9374-11A>G) c.9329-11A>G (n.9329-11A>G) n.86-11A>G c.9482-11A>G (n.9482-11A>G) c.8387-11A>G (n.8387-11A>G) c.4571-11A>G (n.4571-11A>G) c.4124-11A>G (n.4124-11A>G) c.3461-11A>G (n.3461-11A>G) c.7976-11A>G (n.7976-11A>G) | gnomAD v4 |
| 5 | g.13770991T>G | CA3202558 | DNAH5 | c.9374-11A>C (n.9374-11A>C) c.9329-11A>C (n.9329-11A>C) n.86-11A>C c.9482-11A>C (n.9482-11A>C) c.8387-11A>C (n.8387-11A>C) c.4571-11A>C (n.4571-11A>C) c.4124-11A>C (n.4124-11A>C) c.3461-11A>C (n.3461-11A>C) c.7976-11A>C (n.7976-11A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13770991T= | CA1528431265 | DNAH5 | c.9374-11A= (n.9374-11A=) c.9329-11A= (n.9329-11A=) n.86-11A= c.9482-11A= (n.9482-11A=) c.8387-11A= (n.8387-11A=) c.4571-11A= (n.4571-11A=) c.4124-11A= (n.4124-11A=) c.3461-11A= (n.3461-11A=) c.7976-11A= (n.7976-11A=) | |
| 5 | g.13770992A= | CA1528431266 | DNAH5 | c.9374-12T= (n.9374-12T=) c.9329-12T= (n.9329-12T=) n.86-12T= c.9482-12T= (n.9482-12T=) c.8387-12T= (n.8387-12T=) c.4571-12T= (n.4571-12T=) c.4124-12T= (n.4124-12T=) c.3461-12T= (n.3461-12T=) c.7976-12T= (n.7976-12T=) | |
| 5 | g.13770992A>G | CA557876483 | DNAH5 | c.9374-12T>C (n.9374-12T>C) c.9329-12T>C (n.9329-12T>C) n.86-12T>C c.9482-12T>C (n.9482-12T>C) c.8387-12T>C (n.8387-12T>C) c.4571-12T>C (n.4571-12T>C) c.4124-12T>C (n.4124-12T>C) c.3461-12T>C (n.3461-12T>C) c.7976-12T>C (n.7976-12T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13770993A>G | CA2673268309 | DNAH5 | c.9374-13T>C (n.9374-13T>C) c.9329-13T>C (n.9329-13T>C) n.86-13T>C c.9482-13T>C (n.9482-13T>C) c.8387-13T>C (n.8387-13T>C) c.4571-13T>C (n.4571-13T>C) c.4124-13T>C (n.4124-13T>C) c.3461-13T>C (n.3461-13T>C) c.7976-13T>C (n.7976-13T>C) | gnomAD v4 |
| 5 | g.13770995G>C | CA3202559 | DNAH5 | c.9374-15C>G (n.9374-15C>G) c.9329-15C>G (n.9329-15C>G) n.86-15C>G c.9482-15C>G (n.9482-15C>G) c.8387-15C>G (n.8387-15C>G) c.4571-15C>G (n.4571-15C>G) c.4124-15C>G (n.4124-15C>G) c.3461-15C>G (n.3461-15C>G) c.7976-15C>G (n.7976-15C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13770995G= | CA1528431267 | DNAH5 | c.9374-15C= (n.9374-15C=) c.9329-15C= (n.9329-15C=) n.86-15C= c.9482-15C= (n.9482-15C=) c.8387-15C= (n.8387-15C=) c.4571-15C= (n.4571-15C=) c.4124-15C= (n.4124-15C=) c.3461-15C= (n.3461-15C=) c.7976-15C= (n.7976-15C=) | |
| 5 | g.13770995G>T | CA2673268310 | DNAH5 | c.9374-15C>A (n.9374-15C>A) c.9329-15C>A (n.9329-15C>A) n.86-15C>A c.9482-15C>A (n.9482-15C>A) c.8387-15C>A (n.8387-15C>A) c.4571-15C>A (n.4571-15C>A) c.4124-15C>A (n.4124-15C>A) c.3461-15C>A (n.3461-15C>A) c.7976-15C>A (n.7976-15C>A) | gnomAD v4 |
| 5 | g.13770997T>C | CA3202560 | DNAH5 | c.9374-17A>G (n.9374-17A>G) c.9329-17A>G (n.9329-17A>G) n.86-17A>G c.9482-17A>G (n.9482-17A>G) c.8387-17A>G (n.8387-17A>G) c.4571-17A>G (n.4571-17A>G) c.4124-17A>G (n.4124-17A>G) c.3461-17A>G (n.3461-17A>G) c.7976-17A>G (n.7976-17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13770997T= | CA1528431268 | DNAH5 | c.9374-17A= (n.9374-17A=) c.9329-17A= (n.9329-17A=) n.86-17A= c.9482-17A= (n.9482-17A=) c.8387-17A= (n.8387-17A=) c.4571-17A= (n.4571-17A=) c.4124-17A= (n.4124-17A=) c.3461-17A= (n.3461-17A=) c.7976-17A= (n.7976-17A=) | |
| 5 | g.13770998G>A | CA2673268311 | DNAH5 | c.9374-18C>T (n.9374-18C>T) c.9329-18C>T (n.9329-18C>T) n.86-18C>T c.9482-18C>T (n.9482-18C>T) c.8387-18C>T (n.8387-18C>T) c.4571-18C>T (n.4571-18C>T) c.4124-18C>T (n.4124-18C>T) c.3461-18C>T (n.3461-18C>T) c.7976-18C>T (n.7976-18C>T) | gnomAD v4 |
| 5 | g.13771000C>A | CA2578270108 | DNAH5 | c.9374-20G>T (n.9374-20G>T) c.9329-20G>T (n.9329-20G>T) n.86-20G>T c.9482-20G>T (n.9482-20G>T) c.8387-20G>T (n.8387-20G>T) c.4571-20G>T (n.4571-20G>T) c.4124-20G>T (n.4124-20G>T) c.3461-20G>T (n.3461-20G>T) c.7976-20G>T (n.7976-20G>T) | |
| 5 | g.13771000_13771001delinsCA | CA1528431269 | DNAH5 | c.9374-21_9374-20delinsTG (n.9374-21_9374-20delinsTG) c.9329-21_9329-20delinsTG (n.9329-21_9329-20delinsTG) n.86-21_86-20delinsTG c.9482-21_9482-20delinsTG (n.9482-21_9482-20delinsTG) c.8387-21_8387-20delinsTG (n.8387-21_8387-20delinsTG) c.4571-21_4571-20delinsTG (n.4571-21_4571-20delinsTG) c.4124-21_4124-20delinsTG (n.4124-21_4124-20delinsTG) c.3461-21_3461-20delinsTG (n.3461-21_3461-20delinsTG) c.7976-21_7976-20delinsTG (n.7976-21_7976-20delinsTG) | |
| 5 | g.13771001del | CA557876484 | DNAH5 | c.9374-21del (n.9374-21del) c.9329-21del (n.9329-21del) n.86-21del c.9482-21del (n.9482-21del) c.8387-21del (n.8387-21del) c.4571-21del (n.4571-21del) c.4124-21del (n.4124-21del) c.3461-21del (n.3461-21del) c.7976-21del (n.7976-21del) | dbSNP gnomAD v2 |
| 5 | g.13771001_13771003delinsAGT | CA1528431270 | DNAH5 | c.9374-23_9374-21delinsACT (n.9374-23_9374-21delinsACT) c.9329-23_9329-21delinsACT (n.9329-23_9329-21delinsACT) n.86-23_86-21delinsACT c.9482-23_9482-21delinsACT (n.9482-23_9482-21delinsACT) c.8387-23_8387-21delinsACT (n.8387-23_8387-21delinsACT) c.4571-23_4571-21delinsACT (n.4571-23_4571-21delinsACT) c.4124-23_4124-21delinsACT (n.4124-23_4124-21delinsACT) c.3461-23_3461-21delinsACT (n.3461-23_3461-21delinsACT) c.7976-23_7976-21delinsACT (n.7976-23_7976-21delinsACT) | |
| 5 | g.13771002G>A | CA10586902 | DNAH5 | c.9374-22C>T (n.9374-22C>T) c.9329-22C>T (n.9329-22C>T) n.86-22C>T c.9482-22C>T (n.9482-22C>T) c.8387-22C>T (n.8387-22C>T) c.4571-22C>T (n.4571-22C>T) c.4124-22C>T (n.4124-22C>T) c.3461-22C>T (n.3461-22C>T) c.7976-22C>T (n.7976-22C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13771002G>C | CA2673268312 | DNAH5 | c.9374-22C>G (n.9374-22C>G) c.9329-22C>G (n.9329-22C>G) n.86-22C>G c.9482-22C>G (n.9482-22C>G) c.8387-22C>G (n.8387-22C>G) c.4571-22C>G (n.4571-22C>G) c.4124-22C>G (n.4124-22C>G) c.3461-22C>G (n.3461-22C>G) c.7976-22C>G (n.7976-22C>G) | gnomAD v4 |
| 5 | g.13771002G= | CA1528431271 | DNAH5 | c.9374-22C= (n.9374-22C=) c.9329-22C= (n.9329-22C=) n.86-22C= c.9482-22C= (n.9482-22C=) c.8387-22C= (n.8387-22C=) c.4571-22C= (n.4571-22C=) c.4124-22C= (n.4124-22C=) c.3461-22C= (n.3461-22C=) c.7976-22C= (n.7976-22C=) | |
| 5 | g.13771002G>T | CA557876485 | DNAH5 | c.9374-22C>A (n.9374-22C>A) c.9329-22C>A (n.9329-22C>A) n.86-22C>A c.9482-22C>A (n.9482-22C>A) c.8387-22C>A (n.8387-22C>A) c.4571-22C>A (n.4571-22C>A) c.4124-22C>A (n.4124-22C>A) c.3461-22C>A (n.3461-22C>A) c.7976-22C>A (n.7976-22C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13771007_13771008del | CA804423113 | DNAH5 | c.9374-23_9374-22del (n.9374-23_9374-22del) c.9329-23_9329-22del (n.9329-23_9329-22del) n.86-23_86-22del c.9482-23_9482-22del (n.9482-23_9482-22del) c.8387-23_8387-22del (n.8387-23_8387-22del) c.4571-23_4571-22del (n.4571-23_4571-22del) c.4124-23_4124-22del (n.4124-23_4124-22del) c.3461-23_3461-22del (n.3461-23_3461-22del) c.7976-23_7976-22del (n.7976-23_7976-22del) | dbSNP |
| 5 | g.13771003T>C | CA2673268313 | DNAH5 | c.9374-23A>G (n.9374-23A>G) c.9329-23A>G (n.9329-23A>G) n.86-23A>G c.9482-23A>G (n.9482-23A>G) c.8387-23A>G (n.8387-23A>G) c.4571-23A>G (n.4571-23A>G) c.4124-23A>G (n.4124-23A>G) c.3461-23A>G (n.3461-23A>G) c.7976-23A>G (n.7976-23A>G) | gnomAD v4 |
| 5 | g.13771003T>G | CA113933223 | DNAH5 | c.9374-23A>C (n.9374-23A>C) c.9329-23A>C (n.9329-23A>C) n.86-23A>C c.9482-23A>C (n.9482-23A>C) c.8387-23A>C (n.8387-23A>C) c.4571-23A>C (n.4571-23A>C) c.4124-23A>C (n.4124-23A>C) c.3461-23A>C (n.3461-23A>C) c.7976-23A>C (n.7976-23A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13771003T= | CA1528431272 | DNAH5 | c.9374-23A= (n.9374-23A=) c.9329-23A= (n.9329-23A=) n.86-23A= c.9482-23A= (n.9482-23A=) c.8387-23A= (n.8387-23A=) c.4571-23A= (n.4571-23A=) c.4124-23A= (n.4124-23A=) c.3461-23A= (n.3461-23A=) c.7976-23A= (n.7976-23A=) | |
| 5 | g.13771004G>C | CA3202561 | DNAH5 | c.9374-24C>G (n.9374-24C>G) c.9329-24C>G (n.9329-24C>G) n.86-24C>G c.9482-24C>G (n.9482-24C>G) c.8387-24C>G (n.8387-24C>G) c.4571-24C>G (n.4571-24C>G) c.4124-24C>G (n.4124-24C>G) c.3461-24C>G (n.3461-24C>G) c.7976-24C>G (n.7976-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13771004G= | CA1528431273 | DNAH5 | c.9374-24C= (n.9374-24C=) c.9329-24C= (n.9329-24C=) n.86-24C= c.9482-24C= (n.9482-24C=) c.8387-24C= (n.8387-24C=) c.4571-24C= (n.4571-24C=) c.4124-24C= (n.4124-24C=) c.3461-24C= (n.3461-24C=) c.7976-24C= (n.7976-24C=) | |
| 5 | g.13771004G>T | CA2673268314 | DNAH5 | c.9374-24C>A (n.9374-24C>A) c.9329-24C>A (n.9329-24C>A) n.86-24C>A c.9482-24C>A (n.9482-24C>A) c.8387-24C>A (n.8387-24C>A) c.4571-24C>A (n.4571-24C>A) c.4124-24C>A (n.4124-24C>A) c.3461-24C>A (n.3461-24C>A) c.7976-24C>A (n.7976-24C>A) | gnomAD v4 |
| 5 | g.13771005T>A | CA2578270113 | DNAH5 | c.9374-25A>T (n.9374-25A>T) c.9329-25A>T (n.9329-25A>T) n.86-25A>T c.9482-25A>T (n.9482-25A>T) c.8387-25A>T (n.8387-25A>T) c.4571-25A>T (n.4571-25A>T) c.4124-25A>T (n.4124-25A>T) c.3461-25A>T (n.3461-25A>T) c.7976-25A>T (n.7976-25A>T) | |
| 5 | g.13771007T>C | CA2578270117 | DNAH5 | c.9374-27A>G (n.9374-27A>G) c.9329-27A>G (n.9329-27A>G) n.86-27A>G c.9482-27A>G (n.9482-27A>G) c.8387-27A>G (n.8387-27A>G) c.4571-27A>G (n.4571-27A>G) c.4124-27A>G (n.4124-27A>G) c.3461-27A>G (n.3461-27A>G) c.7976-27A>G (n.7976-27A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13771008G>A | CA2538385296 | DNAH5 | c.9374-28C>T (n.9374-28C>T) c.9329-28C>T (n.9329-28C>T) n.86-28C>T c.9482-28C>T (n.9482-28C>T) c.8387-28C>T (n.8387-28C>T) c.4571-28C>T (n.4571-28C>T) c.4124-28C>T (n.4124-28C>T) c.3461-28C>T (n.3461-28C>T) c.7976-28C>T (n.7976-28C>T) | |
| 5 | g.13771008G>T | CA2673268315 | DNAH5 | c.9374-28C>A (n.9374-28C>A) c.9329-28C>A (n.9329-28C>A) n.86-28C>A c.9482-28C>A (n.9482-28C>A) c.8387-28C>A (n.8387-28C>A) c.4571-28C>A (n.4571-28C>A) c.4124-28C>A (n.4124-28C>A) c.3461-28C>A (n.3461-28C>A) c.7976-28C>A (n.7976-28C>A) | gnomAD v4 |
| 5 | g.13771011A= | CA1528431275 | DNAH5 | c.9374-31T= (n.9374-31T=) c.9329-31T= (n.9329-31T=) n.86-31T= c.9482-31T= (n.9482-31T=) c.8387-31T= (n.8387-31T=) c.4571-31T= (n.4571-31T=) c.4124-31T= (n.4124-31T=) c.3461-31T= (n.3461-31T=) c.7976-31T= (n.7976-31T=) | |
| 5 | g.13771011A>G | CA804423125 | DNAH5 | c.9374-31T>C (n.9374-31T>C) c.9329-31T>C (n.9329-31T>C) n.86-31T>C c.9482-31T>C (n.9482-31T>C) c.8387-31T>C (n.8387-31T>C) c.4571-31T>C (n.4571-31T>C) c.4124-31T>C (n.4124-31T>C) c.3461-31T>C (n.3461-31T>C) c.7976-31T>C (n.7976-31T>C) | dbSNP |
| 5 | g.13771011_13771015delinsATATG | CA1528431274 | DNAH5 | c.9374-35_9374-31delinsCATAT (n.9374-35_9374-31delinsCATAT) c.9329-35_9329-31delinsCATAT (n.9329-35_9329-31delinsCATAT) n.86-35_86-31delinsCATAT c.9482-35_9482-31delinsCATAT (n.9482-35_9482-31delinsCATAT) c.8387-35_8387-31delinsCATAT (n.8387-35_8387-31delinsCATAT) c.4571-35_4571-31delinsCATAT (n.4571-35_4571-31delinsCATAT) c.4124-35_4124-31delinsCATAT (n.4124-35_4124-31delinsCATAT) c.3461-35_3461-31delinsCATAT (n.3461-35_3461-31delinsCATAT) c.7976-35_7976-31delinsCATAT (n.7976-35_7976-31delinsCATAT) | |
| 5 | g.13771018_13771021del | CA3202562 | DNAH5 | c.9374-35_9374-32del (n.9374-35_9374-32del) c.9329-35_9329-32del (n.9329-35_9329-32del) n.86-35_86-32del c.9482-35_9482-32del (n.9482-35_9482-32del) c.8387-35_8387-32del (n.8387-35_8387-32del) c.4571-35_4571-32del (n.4571-35_4571-32del) c.4124-35_4124-32del (n.4124-35_4124-32del) c.3461-35_3461-32del (n.3461-35_3461-32del) c.7976-35_7976-32del (n.7976-35_7976-32del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13771013A= | CA1528431276 | DNAH5 | c.9374-33T= (n.9374-33T=) c.9329-33T= (n.9329-33T=) n.86-33T= c.9482-33T= (n.9482-33T=) c.8387-33T= (n.8387-33T=) c.4571-33T= (n.4571-33T=) c.4124-33T= (n.4124-33T=) c.3461-33T= (n.3461-33T=) c.7976-33T= (n.7976-33T=) | |
| 5 | g.13771013A>C | CA2673268316 | DNAH5 | c.9374-33T>G (n.9374-33T>G) c.9329-33T>G (n.9329-33T>G) n.86-33T>G c.9482-33T>G (n.9482-33T>G) c.8387-33T>G (n.8387-33T>G) c.4571-33T>G (n.4571-33T>G) c.4124-33T>G (n.4124-33T>G) c.3461-33T>G (n.3461-33T>G) c.7976-33T>G (n.7976-33T>G) | gnomAD v4 |
| 5 | g.13771013A>G | CA3202563 | DNAH5 | c.9374-33T>C (n.9374-33T>C) c.9329-33T>C (n.9329-33T>C) n.86-33T>C c.9482-33T>C (n.9482-33T>C) c.8387-33T>C (n.8387-33T>C) c.4571-33T>C (n.4571-33T>C) c.4124-33T>C (n.4124-33T>C) c.3461-33T>C (n.3461-33T>C) c.7976-33T>C (n.7976-33T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13771014T>C | CA3202564 | DNAH5 | c.9374-34A>G (n.9374-34A>G) c.9329-34A>G (n.9329-34A>G) n.86-34A>G c.9482-34A>G (n.9482-34A>G) c.8387-34A>G (n.8387-34A>G) c.4571-34A>G (n.4571-34A>G) c.4124-34A>G (n.4124-34A>G) c.3461-34A>G (n.3461-34A>G) c.7976-34A>G (n.7976-34A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13771014T= | CA1528431277 | DNAH5 | c.9374-34A= (n.9374-34A=) c.9329-34A= (n.9329-34A=) n.86-34A= c.9482-34A= (n.9482-34A=) c.8387-34A= (n.8387-34A=) c.4571-34A= (n.4571-34A=) c.4124-34A= (n.4124-34A=) c.3461-34A= (n.3461-34A=) c.7976-34A= (n.7976-34A=) | |
| 5 | g.13771015G>A | CA2673268317 | DNAH5 | c.9374-35C>T (n.9374-35C>T) c.9329-35C>T (n.9329-35C>T) n.86-35C>T c.9482-35C>T (n.9482-35C>T) c.8387-35C>T (n.8387-35C>T) c.4571-35C>T (n.4571-35C>T) c.4124-35C>T (n.4124-35C>T) c.3461-35C>T (n.3461-35C>T) c.7976-35C>T (n.7976-35C>T) | gnomAD v4 |
| 5 | g.13771016T>C | CA804423135 | DNAH5 | c.9374-36A>G (n.9374-36A>G) c.9329-36A>G (n.9329-36A>G) n.86-36A>G c.9482-36A>G (n.9482-36A>G) c.8387-36A>G (n.8387-36A>G) c.4571-36A>G (n.4571-36A>G) c.4124-36A>G (n.4124-36A>G) c.3461-36A>G (n.3461-36A>G) c.7976-36A>G (n.7976-36A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13771016T= | CA1528431278 | DNAH5 | c.9374-36A= (n.9374-36A=) c.9329-36A= (n.9329-36A=) n.86-36A= c.9482-36A= (n.9482-36A=) c.8387-36A= (n.8387-36A=) c.4571-36A= (n.4571-36A=) c.4124-36A= (n.4124-36A=) c.3461-36A= (n.3461-36A=) c.7976-36A= (n.7976-36A=) | |
| 5 | g.13771017_13771018delinsAT | CA1528431279 | DNAH5 | c.9374-38_9374-37delinsAT (n.9374-38_9374-37delinsAT) c.9329-38_9329-37delinsAT (n.9329-38_9329-37delinsAT) n.86-38_86-37delinsAT c.9482-38_9482-37delinsAT (n.9482-38_9482-37delinsAT) c.8387-38_8387-37delinsAT (n.8387-38_8387-37delinsAT) c.4571-38_4571-37delinsAT (n.4571-38_4571-37delinsAT) c.4124-38_4124-37delinsAT (n.4124-38_4124-37delinsAT) c.3461-38_3461-37delinsAT (n.3461-38_3461-37delinsAT) c.7976-38_7976-37delinsAT (n.7976-38_7976-37delinsAT) | |
| 5 | g.13771018del | CA557876486 | DNAH5 | c.9374-38del (n.9374-38del) c.9329-38del (n.9329-38del) n.86-38del c.9482-38del (n.9482-38del) c.8387-38del (n.8387-38del) c.4571-38del (n.4571-38del) c.4124-38del (n.4124-38del) c.3461-38del (n.3461-38del) c.7976-38del (n.7976-38del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13771018T>C | CA3202565 | DNAH5 | c.9374-38A>G (n.9374-38A>G) c.9329-38A>G (n.9329-38A>G) n.86-38A>G c.9482-38A>G (n.9482-38A>G) c.8387-38A>G (n.8387-38A>G) c.4571-38A>G (n.4571-38A>G) c.4124-38A>G (n.4124-38A>G) c.3461-38A>G (n.3461-38A>G) c.7976-38A>G (n.7976-38A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13771018T= | CA1528431280 | DNAH5 | c.9374-38A= (n.9374-38A=) c.9329-38A= (n.9329-38A=) n.86-38A= c.9482-38A= (n.9482-38A=) c.8387-38A= (n.8387-38A=) c.4571-38A= (n.4571-38A=) c.4124-38A= (n.4124-38A=) c.3461-38A= (n.3461-38A=) c.7976-38A= (n.7976-38A=) | |
| 5 | g.13771019G>A | CA804423148 | DNAH5 | c.9374-39C>T (n.9374-39C>T) c.9329-39C>T (n.9329-39C>T) n.86-39C>T c.9482-39C>T (n.9482-39C>T) c.8387-39C>T (n.8387-39C>T) c.4571-39C>T (n.4571-39C>T) c.4124-39C>T (n.4124-39C>T) c.3461-39C>T (n.3461-39C>T) c.7976-39C>T (n.7976-39C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13771019G= | CA1528431281 | DNAH5 | c.9374-39C= (n.9374-39C=) c.9329-39C= (n.9329-39C=) n.86-39C= c.9482-39C= (n.9482-39C=) c.8387-39C= (n.8387-39C=) c.4571-39C= (n.4571-39C=) c.4124-39C= (n.4124-39C=) c.3461-39C= (n.3461-39C=) c.7976-39C= (n.7976-39C=) | |
| 5 | g.13771019G>T | CA2673268318 | DNAH5 | c.9374-39C>A (n.9374-39C>A) c.9329-39C>A (n.9329-39C>A) n.86-39C>A c.9482-39C>A (n.9482-39C>A) c.8387-39C>A (n.8387-39C>A) c.4571-39C>A (n.4571-39C>A) c.4124-39C>A (n.4124-39C>A) c.3461-39C>A (n.3461-39C>A) c.7976-39C>A (n.7976-39C>A) | gnomAD v4 |
| 5 | g.13771020T>A | CA2673268319 | DNAH5 | c.9374-40A>T (n.9374-40A>T) c.9329-40A>T (n.9329-40A>T) n.86-40A>T c.9482-40A>T (n.9482-40A>T) c.8387-40A>T (n.8387-40A>T) c.4571-40A>T (n.4571-40A>T) c.4124-40A>T (n.4124-40A>T) c.3461-40A>T (n.3461-40A>T) c.7976-40A>T (n.7976-40A>T) | gnomAD v4 |
| 5 | g.13771020T>C | CA2673268320 | DNAH5 | c.9374-40A>G (n.9374-40A>G) c.9329-40A>G (n.9329-40A>G) n.86-40A>G c.9482-40A>G (n.9482-40A>G) c.8387-40A>G (n.8387-40A>G) c.4571-40A>G (n.4571-40A>G) c.4124-40A>G (n.4124-40A>G) c.3461-40A>G (n.3461-40A>G) c.7976-40A>G (n.7976-40A>G) | gnomAD v4 |
| 5 | g.13771020_13771021delinsTA | CA1528431282 | DNAH5 | c.9374-41_9374-40delinsTA (n.9374-41_9374-40delinsTA) c.9329-41_9329-40delinsTA (n.9329-41_9329-40delinsTA) n.86-41_86-40delinsTA c.9482-41_9482-40delinsTA (n.9482-41_9482-40delinsTA) c.8387-41_8387-40delinsTA (n.8387-41_8387-40delinsTA) c.4571-41_4571-40delinsTA (n.4571-41_4571-40delinsTA) c.4124-41_4124-40delinsTA (n.4124-41_4124-40delinsTA) c.3461-41_3461-40delinsTA (n.3461-41_3461-40delinsTA) c.7976-41_7976-40delinsTA (n.7976-41_7976-40delinsTA) | |
| 5 | g.13771021A= | CA1528431283 | DNAH5 | c.9374-41T= (n.9374-41T=) c.9329-41T= (n.9329-41T=) n.86-41T= c.9482-41T= (n.9482-41T=) c.8387-41T= (n.8387-41T=) c.4571-41T= (n.4571-41T=) c.4124-41T= (n.4124-41T=) c.3461-41T= (n.3461-41T=) c.7976-41T= (n.7976-41T=) | |
| 5 | g.13771021A>T | CA3202567 | DNAH5 | c.9374-41T>A (n.9374-41T>A) c.9329-41T>A (n.9329-41T>A) n.86-41T>A c.9482-41T>A (n.9482-41T>A) c.8387-41T>A (n.8387-41T>A) c.4571-41T>A (n.4571-41T>A) c.4124-41T>A (n.4124-41T>A) c.3461-41T>A (n.3461-41T>A) c.7976-41T>A (n.7976-41T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13771022del | CA3202566 | DNAH5 | c.9374-41del (n.9374-41del) c.9329-41del (n.9329-41del) n.86-41del c.9482-41del (n.9482-41del) c.8387-41del (n.8387-41del) c.4571-41del (n.4571-41del) c.4124-41del (n.4124-41del) c.3461-41del (n.3461-41del) c.7976-41del (n.7976-41del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13771022A>C | CA2673268321 | DNAH5 | c.9374-42T>G (n.9374-42T>G) c.9329-42T>G (n.9329-42T>G) n.86-42T>G c.9482-42T>G (n.9482-42T>G) c.8387-42T>G (n.8387-42T>G) c.4571-42T>G (n.4571-42T>G) c.4124-42T>G (n.4124-42T>G) c.3461-42T>G (n.3461-42T>G) c.7976-42T>G (n.7976-42T>G) | gnomAD v4 |
| 5 | g.13771022A>G | CA2673268322 | DNAH5 | c.9374-42T>C (n.9374-42T>C) c.9329-42T>C (n.9329-42T>C) n.86-42T>C c.9482-42T>C (n.9482-42T>C) c.8387-42T>C (n.8387-42T>C) c.4571-42T>C (n.4571-42T>C) c.4124-42T>C (n.4124-42T>C) c.3461-42T>C (n.3461-42T>C) c.7976-42T>C (n.7976-42T>C) | gnomAD v4 |
| 5 | g.13771026del | CA2673268323 | DNAH5 | c.9374-46del (n.9374-46del) c.9329-46del (n.9329-46del) n.86-46del c.9482-46del (n.9482-46del) c.8387-46del (n.8387-46del) c.4571-46del (n.4571-46del) c.4124-46del (n.4124-46del) c.3461-46del (n.3461-46del) c.7976-46del (n.7976-46del) | gnomAD v4 |
| 5 | g.13771027C= | CA1528431284 | DNAH5 | c.9374-47G= (n.9374-47G=) c.9329-47G= (n.9329-47G=) n.86-47G= c.9482-47G= (n.9482-47G=) c.8387-47G= (n.8387-47G=) c.4571-47G= (n.4571-47G=) c.4124-47G= (n.4124-47G=) c.3461-47G= (n.3461-47G=) c.7976-47G= (n.7976-47G=) | |
| 5 | g.13771027C>T | CA1528431285 | DNAH5 | c.9374-47G>A (n.9374-47G>A) c.9329-47G>A (n.9329-47G>A) n.86-47G>A c.9482-47G>A (n.9482-47G>A) c.8387-47G>A (n.8387-47G>A) c.4571-47G>A (n.4571-47G>A) c.4124-47G>A (n.4124-47G>A) c.3461-47G>A (n.3461-47G>A) c.7976-47G>A (n.7976-47G>A) | dbSNP |
| 5 | g.13771029del | CA2673268324 | DNAH5 | c.9374-47del (n.9374-47del) c.9329-47del (n.9329-47del) n.86-47del c.9482-47del (n.9482-47del) c.8387-47del (n.8387-47del) c.4571-47del (n.4571-47del) c.4124-47del (n.4124-47del) c.3461-47del (n.3461-47del) c.7976-47del (n.7976-47del) | gnomAD v4 |
| 5 | g.13771028C>A | CA2673268325 | DNAH5 | c.9374-48G>T (n.9374-48G>T) c.9329-48G>T (n.9329-48G>T) n.86-48G>T c.9482-48G>T (n.9482-48G>T) c.8387-48G>T (n.8387-48G>T) c.4571-48G>T (n.4571-48G>T) c.4124-48G>T (n.4124-48G>T) c.3461-48G>T (n.3461-48G>T) c.7976-48G>T (n.7976-48G>T) | gnomAD v4 |
| 5 | g.13771028C>T | CA2673268326 | DNAH5 | c.9374-48G>A (n.9374-48G>A) c.9329-48G>A (n.9329-48G>A) n.86-48G>A c.9482-48G>A (n.9482-48G>A) c.8387-48G>A (n.8387-48G>A) c.4571-48G>A (n.4571-48G>A) c.4124-48G>A (n.4124-48G>A) c.3461-48G>A (n.3461-48G>A) c.7976-48G>A (n.7976-48G>A) | gnomAD v4 |
| 5 | g.13771029C>A | CA2673268327 | DNAH5 | c.9374-49G>T (n.9374-49G>T) c.9329-49G>T (n.9329-49G>T) n.86-49G>T c.9482-49G>T (n.9482-49G>T) c.8387-49G>T (n.8387-49G>T) c.4571-49G>T (n.4571-49G>T) c.4124-49G>T (n.4124-49G>T) c.3461-49G>T (n.3461-49G>T) c.7976-49G>T (n.7976-49G>T) | gnomAD v4 |
| 5 | g.13771030T>C | CA2673268328 | DNAH5 | c.9374-50A>G (n.9374-50A>G) c.9329-50A>G (n.9329-50A>G) n.86-50A>G c.9482-50A>G (n.9482-50A>G) c.8387-50A>G (n.8387-50A>G) c.4571-50A>G (n.4571-50A>G) c.4124-50A>G (n.4124-50A>G) c.3461-50A>G (n.3461-50A>G) c.7976-50A>G (n.7976-50A>G) | gnomAD v4 |
| 5 | g.13771033del | CA2578270119 | DNAH5 | c.9374-50del (n.9374-50del) c.9329-50del (n.9329-50del) n.86-50del c.9482-50del (n.9482-50del) c.8387-50del (n.8387-50del) c.4571-50del (n.4571-50del) c.4124-50del (n.4124-50del) c.3461-50del (n.3461-50del) c.7976-50del (n.7976-50del) | gnomAD v4 |
| 5 | g.13771033T>A | CA2578270121 | DNAH5 | c.9374-53A>T (n.9374-53A>T) c.9329-53A>T (n.9329-53A>T) n.86-53A>T c.9482-53A>T (n.9482-53A>T) c.8387-53A>T (n.8387-53A>T) c.4571-53A>T (n.4571-53A>T) c.4124-53A>T (n.4124-53A>T) c.3461-53A>T (n.3461-53A>T) c.7976-53A>T (n.7976-53A>T) | gnomAD v4 |
| 5 | g.13771033T>C | CA2578270124 | DNAH5 | c.9374-53A>G (n.9374-53A>G) c.9329-53A>G (n.9329-53A>G) n.86-53A>G c.9482-53A>G (n.9482-53A>G) c.8387-53A>G (n.8387-53A>G) c.4571-53A>G (n.4571-53A>G) c.4124-53A>G (n.4124-53A>G) c.3461-53A>G (n.3461-53A>G) c.7976-53A>G (n.7976-53A>G) | gnomAD v4 |
| 5 | g.13771035A>C | CA2578270128 | DNAH5 | c.9374-55T>G (n.9374-55T>G) c.9329-55T>G (n.9329-55T>G) n.86-55T>G c.9482-55T>G (n.9482-55T>G) c.8387-55T>G (n.8387-55T>G) c.4571-55T>G (n.4571-55T>G) c.4124-55T>G (n.4124-55T>G) c.3461-55T>G (n.3461-55T>G) c.7976-55T>G (n.7976-55T>G) | |
| 5 | g.13771038_13771039insGGTAAC | CA2673268329 | DNAH5 | c.9374-59_9374-58insGTTACC (n.9374-59_9374-58insGTTACC) c.9329-59_9329-58insGTTACC (n.9329-59_9329-58insGTTACC) n.86-59_86-58insGTTACC c.9482-59_9482-58insGTTACC (n.9482-59_9482-58insGTTACC) c.8387-59_8387-58insGTTACC (n.8387-59_8387-58insGTTACC) c.4571-59_4571-58insGTTACC (n.4571-59_4571-58insGTTACC) c.4124-59_4124-58insGTTACC (n.4124-59_4124-58insGTTACC) c.3461-59_3461-58insGTTACC (n.3461-59_3461-58insGTTACC) c.7976-59_7976-58insGTTACC (n.7976-59_7976-58insGTTACC) | gnomAD v4 |
| 5 | g.13771039T>A | CA1073393576 | DNAH5 | c.9374-59A>T (n.9374-59A>T) c.9329-59A>T (n.9329-59A>T) n.86-59A>T c.9482-59A>T (n.9482-59A>T) c.8387-59A>T (n.8387-59A>T) c.4571-59A>T (n.4571-59A>T) c.4124-59A>T (n.4124-59A>T) c.3461-59A>T (n.3461-59A>T) c.7976-59A>T (n.7976-59A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13771039T= | CA1528431286 | DNAH5 | c.9374-59A= (n.9374-59A=) c.9329-59A= (n.9329-59A=) n.86-59A= c.9482-59A= (n.9482-59A=) c.8387-59A= (n.8387-59A=) c.4571-59A= (n.4571-59A=) c.4124-59A= (n.4124-59A=) c.3461-59A= (n.3461-59A=) c.7976-59A= (n.7976-59A=) | |
| 5 | g.13771040T>C | CA2673268330 | DNAH5 | c.9374-60A>G (n.9374-60A>G) c.9329-60A>G (n.9329-60A>G) n.86-60A>G c.9482-60A>G (n.9482-60A>G) c.8387-60A>G (n.8387-60A>G) c.4571-60A>G (n.4571-60A>G) c.4124-60A>G (n.4124-60A>G) c.3461-60A>G (n.3461-60A>G) c.7976-60A>G (n.7976-60A>G) | gnomAD v4 |
| 5 | g.13771042A>G | CA2673268331 | DNAH5 | c.9374-62T>C (n.9374-62T>C) c.9329-62T>C (n.9329-62T>C) n.86-62T>C c.9482-62T>C (n.9482-62T>C) c.8387-62T>C (n.8387-62T>C) c.4571-62T>C (n.4571-62T>C) c.4124-62T>C (n.4124-62T>C) c.3461-62T>C (n.3461-62T>C) c.7976-62T>C (n.7976-62T>C) | gnomAD v4 |
| 5 | g.13771044del | CA2673268332 | DNAH5 | c.9374-64del (n.9374-64del) c.9329-64del (n.9329-64del) n.86-64del c.9482-64del (n.9482-64del) c.8387-64del (n.8387-64del) c.4571-64del (n.4571-64del) c.4124-64del (n.4124-64del) c.3461-64del (n.3461-64del) c.7976-64del (n.7976-64del) | gnomAD v4 |
| 5 | g.13771044T>C | CA1528431288 | DNAH5 | c.9374-64A>G (n.9374-64A>G) c.9329-64A>G (n.9329-64A>G) n.86-64A>G c.9482-64A>G (n.9482-64A>G) c.8387-64A>G (n.8387-64A>G) c.4571-64A>G (n.4571-64A>G) c.4124-64A>G (n.4124-64A>G) c.3461-64A>G (n.3461-64A>G) c.7976-64A>G (n.7976-64A>G) | dbSNP gnomAD v4 |
| 5 | g.13771044T>G | CA2578270132 | DNAH5 | c.9374-64A>C (n.9374-64A>C) c.9329-64A>C (n.9329-64A>C) n.86-64A>C c.9482-64A>C (n.9482-64A>C) c.8387-64A>C (n.8387-64A>C) c.4571-64A>C (n.4571-64A>C) c.4124-64A>C (n.4124-64A>C) c.3461-64A>C (n.3461-64A>C) c.7976-64A>C (n.7976-64A>C) | |
| 5 | g.13771044T= | CA1528431287 | DNAH5 | c.9374-64A= (n.9374-64A=) c.9329-64A= (n.9329-64A=) n.86-64A= c.9482-64A= (n.9482-64A=) c.8387-64A= (n.8387-64A=) c.4571-64A= (n.4571-64A=) c.4124-64A= (n.4124-64A=) c.3461-64A= (n.3461-64A=) c.7976-64A= (n.7976-64A=) | |
| 5 | g.13771045_13771048del | CA2673268333 | DNAH5 | c.9374-67_9374-64del (n.9374-67_9374-64del) c.9329-67_9329-64del (n.9329-67_9329-64del) n.86-67_86-64del c.9482-67_9482-64del (n.9482-67_9482-64del) c.8387-67_8387-64del (n.8387-67_8387-64del) c.4571-67_4571-64del (n.4571-67_4571-64del) c.4124-67_4124-64del (n.4124-67_4124-64del) c.3461-67_3461-64del (n.3461-67_3461-64del) c.7976-67_7976-64del (n.7976-67_7976-64del) | gnomAD v4 |
| 5 | g.13771045G>T | CA2673268334 | DNAH5 | c.9374-65C>A (n.9374-65C>A) c.9329-65C>A (n.9329-65C>A) n.86-65C>A c.9482-65C>A (n.9482-65C>A) c.8387-65C>A (n.8387-65C>A) c.4571-65C>A (n.4571-65C>A) c.4124-65C>A (n.4124-65C>A) c.3461-65C>A (n.3461-65C>A) c.7976-65C>A (n.7976-65C>A) | gnomAD v4 |