Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13770787A>C | CA359204263 | DNAH5 | c.9567T>G (p.Tyr3189Ter) c.9522T>G (p.Tyr3174Ter) n.279T>G c.9675T>G (p.Tyr3225Ter) c.8580T>G (p.Tyr2860Ter) c.4764T>G (p.Tyr1588Ter) c.4317T>G (p.Tyr1439Ter) c.3654T>G (p.Tyr1218Ter) c.8169T>G (p.Tyr2723Ter) | |
5 | g.13770787A>G | CA443535524 | DNAH5 | c.9567T>C (p.Tyr3189=) c.9522T>C (p.Tyr3174=) n.279T>C c.9675T>C (p.Tyr3225=) c.8580T>C (p.Tyr2860=) c.4764T>C (p.Tyr1588=) c.4317T>C (p.Tyr1439=) c.3654T>C (p.Tyr1218=) c.8169T>C (p.Tyr2723=) | gnomAD v4 |
5 | g.13770787A>T | CA359204269 | DNAH5 | c.9567T>A (p.Tyr3189Ter) c.9522T>A (p.Tyr3174Ter) n.279T>A c.9675T>A (p.Tyr3225Ter) c.8580T>A (p.Tyr2860Ter) c.4764T>A (p.Tyr1588Ter) c.4317T>A (p.Tyr1439Ter) c.3654T>A (p.Tyr1218Ter) c.8169T>A (p.Tyr2723Ter) | |
5 | g.13770788T>A | CA359204270 | DNAH5 | c.9566A>T (p.Tyr3189Phe) c.9521A>T (p.Tyr3174Phe) n.278A>T c.9674A>T (p.Tyr3225Phe) c.8579A>T (p.Tyr2860Phe) c.4763A>T (p.Tyr1588Phe) c.4316A>T (p.Tyr1439Phe) c.3653A>T (p.Tyr1218Phe) c.8168A>T (p.Tyr2723Phe) | |
5 | g.13770788T>C | CA359204273 | DNAH5 | c.9566A>G (p.Tyr3189Cys) c.9521A>G (p.Tyr3174Cys) n.278A>G c.9674A>G (p.Tyr3225Cys) c.8579A>G (p.Tyr2860Cys) c.4763A>G (p.Tyr1588Cys) c.4316A>G (p.Tyr1439Cys) c.3653A>G (p.Tyr1218Cys) c.8168A>G (p.Tyr2723Cys) | gnomAD v4 |
5 | g.13770788T>G | CA359204271 | DNAH5 | c.9566A>C (p.Tyr3189Ser) c.9521A>C (p.Tyr3174Ser) n.278A>C c.9674A>C (p.Tyr3225Ser) c.8579A>C (p.Tyr2860Ser) c.4763A>C (p.Tyr1588Ser) c.4316A>C (p.Tyr1439Ser) c.3653A>C (p.Tyr1218Ser) c.8168A>C (p.Tyr2723Ser) | |
5 | g.13770789A= | CA1528431184 | DNAH5 | c.9565T= (p.Tyr3189=) c.9520T= (p.Tyr3174=) n.277T= c.9673T= (p.Tyr3225=) c.8578T= (p.Tyr2860=) c.4762T= (p.Tyr1588=) c.4315T= (p.Tyr1439=) c.3652T= (p.Tyr1218=) c.8167T= (p.Tyr2723=) | |
5 | g.13770789A>C | CA3202514 | DNAH5 | c.9565T>G (p.Tyr3189Asp) c.9520T>G (p.Tyr3174Asp) n.277T>G c.9673T>G (p.Tyr3225Asp) c.8578T>G (p.Tyr2860Asp) c.4762T>G (p.Tyr1588Asp) c.4315T>G (p.Tyr1439Asp) c.3652T>G (p.Tyr1218Asp) c.8167T>G (p.Tyr2723Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770789A>G | CA3202515 | DNAH5 | c.9565T>C (p.Tyr3189His) c.9520T>C (p.Tyr3174His) n.277T>C c.9673T>C (p.Tyr3225His) c.8578T>C (p.Tyr2860His) c.4762T>C (p.Tyr1588His) c.4315T>C (p.Tyr1439His) c.3652T>C (p.Tyr1218His) c.8167T>C (p.Tyr2723His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770789A>T | CA359204284 | DNAH5 | c.9565T>A (p.Tyr3189Asn) c.9520T>A (p.Tyr3174Asn) n.277T>A c.9673T>A (p.Tyr3225Asn) c.8578T>A (p.Tyr2860Asn) c.4762T>A (p.Tyr1588Asn) c.4315T>A (p.Tyr1439Asn) c.3652T>A (p.Tyr1218Asn) c.8167T>A (p.Tyr2723Asn) | |
5 | g.13770790T>A | CA3202516 | DNAH5 | c.9564A>T (p.Ile3188=) c.9519A>T (p.Ile3173=) n.276A>T c.9672A>T (p.Ile3224=) c.8577A>T (p.Ile2859=) c.4761A>T (p.Ile1587=) c.4314A>T (p.Ile1438=) c.3651A>T (p.Ile1217=) c.8166A>T (p.Ile2722=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770790T>C | CA359204289 | DNAH5 | c.9564A>G (p.Ile3188Met) c.9519A>G (p.Ile3173Met) n.276A>G c.9672A>G (p.Ile3224Met) c.8577A>G (p.Ile2859Met) c.4761A>G (p.Ile1587Met) c.4314A>G (p.Ile1438Met) c.3651A>G (p.Ile1217Met) c.8166A>G (p.Ile2722Met) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770790T>G | CA443535528 | DNAH5 | c.9564A>C (p.Ile3188=) c.9519A>C (p.Ile3173=) n.276A>C c.9672A>C (p.Ile3224=) c.8577A>C (p.Ile2859=) c.4761A>C (p.Ile1587=) c.4314A>C (p.Ile1438=) c.3651A>C (p.Ile1217=) c.8166A>C (p.Ile2722=) | |
5 | g.13770790T= | CA1528431185 | DNAH5 | c.9564A= (p.Ile3188=) c.9519A= (p.Ile3173=) n.276A= c.9672A= (p.Ile3224=) c.8577A= (p.Ile2859=) c.4761A= (p.Ile1587=) c.4314A= (p.Ile1438=) c.3651A= (p.Ile1217=) c.8166A= (p.Ile2722=) | |
5 | g.13770791A>C | CA359204291 | DNAH5 | c.9563T>G (p.Ile3188Arg) c.9518T>G (p.Ile3173Arg) n.275T>G c.9671T>G (p.Ile3224Arg) c.8576T>G (p.Ile2859Arg) c.4760T>G (p.Ile1587Arg) c.4313T>G (p.Ile1438Arg) c.3650T>G (p.Ile1217Arg) c.8165T>G (p.Ile2722Arg) | |
5 | g.13770791A>G | CA359204292 | DNAH5 | c.9563T>C (p.Ile3188Thr) c.9518T>C (p.Ile3173Thr) n.275T>C c.9671T>C (p.Ile3224Thr) c.8576T>C (p.Ile2859Thr) c.4760T>C (p.Ile1587Thr) c.4313T>C (p.Ile1438Thr) c.3650T>C (p.Ile1217Thr) c.8165T>C (p.Ile2722Thr) | |
5 | g.13770791A>T | CA359204293 | DNAH5 | c.9563T>A (p.Ile3188Lys) c.9518T>A (p.Ile3173Lys) n.275T>A c.9671T>A (p.Ile3224Lys) c.8576T>A (p.Ile2859Lys) c.4760T>A (p.Ile1587Lys) c.4313T>A (p.Ile1438Lys) c.3650T>A (p.Ile1217Lys) c.8165T>A (p.Ile2722Lys) | |
5 | g.13770792T>A | CA359204294 | DNAH5 | c.9562A>T (p.Ile3188Leu) c.9517A>T (p.Ile3173Leu) n.274A>T c.9670A>T (p.Ile3224Leu) c.8575A>T (p.Ile2859Leu) c.4759A>T (p.Ile1587Leu) c.4312A>T (p.Ile1438Leu) c.3649A>T (p.Ile1217Leu) c.8164A>T (p.Ile2722Leu) | |
5 | g.13770792T>C | CA359204296 | DNAH5 | c.9562A>G (p.Ile3188Val) c.9517A>G (p.Ile3173Val) n.274A>G c.9670A>G (p.Ile3224Val) c.8575A>G (p.Ile2859Val) c.4759A>G (p.Ile1587Val) c.4312A>G (p.Ile1438Val) c.3649A>G (p.Ile1217Val) c.8164A>G (p.Ile2722Val) | |
5 | g.13770792T>G | CA359204299 | DNAH5 | c.9562A>C (p.Ile3188Leu) c.9517A>C (p.Ile3173Leu) n.274A>C c.9670A>C (p.Ile3224Leu) c.8575A>C (p.Ile2859Leu) c.4759A>C (p.Ile1587Leu) c.4312A>C (p.Ile1438Leu) c.3649A>C (p.Ile1217Leu) c.8164A>C (p.Ile2722Leu) | gnomAD v4 |
5 | g.13770793G>A | CA3202517 | DNAH5 | c.9561C>T (p.Phe3187=) c.9516C>T (p.Phe3172=) n.273C>T c.9669C>T (p.Phe3223=) c.8574C>T (p.Phe2858=) c.4758C>T (p.Phe1586=) c.4311C>T (p.Phe1437=) c.3648C>T (p.Phe1216=) c.8163C>T (p.Phe2721=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13770793G>C | CA359204305 | DNAH5 | c.9561C>G (p.Phe3187Leu) c.9516C>G (p.Phe3172Leu) n.273C>G c.9669C>G (p.Phe3223Leu) c.8574C>G (p.Phe2858Leu) c.4758C>G (p.Phe1586Leu) c.4311C>G (p.Phe1437Leu) c.3648C>G (p.Phe1216Leu) c.8163C>G (p.Phe2721Leu) | |
5 | g.13770793G= | CA1528431186 | DNAH5 | c.9561C= (p.Phe3187=) c.9516C= (p.Phe3172=) n.273C= c.9669C= (p.Phe3223=) c.8574C= (p.Phe2858=) c.4758C= (p.Phe1586=) c.4311C= (p.Phe1437=) c.3648C= (p.Phe1216=) c.8163C= (p.Phe2721=) | |
5 | g.13770793G>T | CA359204307 | DNAH5 | c.9561C>A (p.Phe3187Leu) c.9516C>A (p.Phe3172Leu) n.273C>A c.9669C>A (p.Phe3223Leu) c.8574C>A (p.Phe2858Leu) c.4758C>A (p.Phe1586Leu) c.4311C>A (p.Phe1437Leu) c.3648C>A (p.Phe1216Leu) c.8163C>A (p.Phe2721Leu) | |
5 | g.13770794A>C | CA359204310 | DNAH5 | c.9560T>G (p.Phe3187Cys) c.9515T>G (p.Phe3172Cys) n.272T>G c.9668T>G (p.Phe3223Cys) c.8573T>G (p.Phe2858Cys) c.4757T>G (p.Phe1586Cys) c.4310T>G (p.Phe1437Cys) c.3647T>G (p.Phe1216Cys) c.8162T>G (p.Phe2721Cys) | |
5 | g.13770794A>G | CA359204311 | DNAH5 | c.9560T>C (p.Phe3187Ser) c.9515T>C (p.Phe3172Ser) n.272T>C c.9668T>C (p.Phe3223Ser) c.8573T>C (p.Phe2858Ser) c.4757T>C (p.Phe1586Ser) c.4310T>C (p.Phe1437Ser) c.3647T>C (p.Phe1216Ser) c.8162T>C (p.Phe2721Ser) | |
5 | g.13770794A>T | CA359204314 | DNAH5 | c.9560T>A (p.Phe3187Tyr) c.9515T>A (p.Phe3172Tyr) n.272T>A c.9668T>A (p.Phe3223Tyr) c.8573T>A (p.Phe2858Tyr) c.4757T>A (p.Phe1586Tyr) c.4310T>A (p.Phe1437Tyr) c.3647T>A (p.Phe1216Tyr) c.8162T>A (p.Phe2721Tyr) | |
5 | g.13770795A>C | CA359204316 | DNAH5 | c.9559T>G (p.Phe3187Val) c.9514T>G (p.Phe3172Val) n.271T>G c.9667T>G (p.Phe3223Val) c.8572T>G (p.Phe2858Val) c.4756T>G (p.Phe1586Val) c.4309T>G (p.Phe1437Val) c.3646T>G (p.Phe1216Val) c.8161T>G (p.Phe2721Val) | |
5 | g.13770795A>G | CA359204317 | DNAH5 | c.9559T>C (p.Phe3187Leu) c.9514T>C (p.Phe3172Leu) n.271T>C c.9667T>C (p.Phe3223Leu) c.8572T>C (p.Phe2858Leu) c.4756T>C (p.Phe1586Leu) c.4309T>C (p.Phe1437Leu) c.3646T>C (p.Phe1216Leu) c.8161T>C (p.Phe2721Leu) | |
5 | g.13770795A>T | CA359204319 | DNAH5 | c.9559T>A (p.Phe3187Ile) c.9514T>A (p.Phe3172Ile) n.271T>A c.9667T>A (p.Phe3223Ile) c.8572T>A (p.Phe2858Ile) c.4756T>A (p.Phe1586Ile) c.4309T>A (p.Phe1437Ile) c.3646T>A (p.Phe1216Ile) c.8161T>A (p.Phe2721Ile) | |
5 | g.13770796C>A | CA359204323 | DNAH5 | c.9558G>T (p.Lys3186Asn) c.9513G>T (p.Lys3171Asn) n.270G>T c.9666G>T (p.Lys3222Asn) c.8571G>T (p.Lys2857Asn) c.4755G>T (p.Lys1585Asn) c.4308G>T (p.Lys1436Asn) c.3645G>T (p.Lys1215Asn) c.8160G>T (p.Lys2720Asn) | dbSNP gnomAD v4 |
5 | g.13770796C= | CA1528431187 | DNAH5 | c.9558G= (p.Lys3186=) c.9513G= (p.Lys3171=) n.270G= c.9666G= (p.Lys3222=) c.8571G= (p.Lys2857=) c.4755G= (p.Lys1585=) c.4308G= (p.Lys1436=) c.3645G= (p.Lys1215=) c.8160G= (p.Lys2720=) | |
5 | g.13770796C>G | CA359204325 | DNAH5 | c.9558G>C (p.Lys3186Asn) c.9513G>C (p.Lys3171Asn) n.270G>C c.9666G>C (p.Lys3222Asn) c.8571G>C (p.Lys2857Asn) c.4755G>C (p.Lys1585Asn) c.4308G>C (p.Lys1436Asn) c.3645G>C (p.Lys1215Asn) c.8160G>C (p.Lys2720Asn) | |
5 | g.13770796C>T | CA443535530 | DNAH5 | c.9558G>A (p.Lys3186=) c.9513G>A (p.Lys3171=) n.270G>A c.9666G>A (p.Lys3222=) c.8571G>A (p.Lys2857=) c.4755G>A (p.Lys1585=) c.4308G>A (p.Lys1436=) c.3645G>A (p.Lys1215=) c.8160G>A (p.Lys2720=) | gnomAD v4 |
5 | g.13770797T>A | CA359204328 | DNAH5 | c.9557A>T (p.Lys3186Met) c.9512A>T (p.Lys3171Met) n.269A>T c.9665A>T (p.Lys3222Met) c.8570A>T (p.Lys2857Met) c.4754A>T (p.Lys1585Met) c.4307A>T (p.Lys1436Met) c.3644A>T (p.Lys1215Met) c.8159A>T (p.Lys2720Met) | |
5 | g.13770797T>C | CA359204334 | DNAH5 | c.9557A>G (p.Lys3186Arg) c.9512A>G (p.Lys3171Arg) n.269A>G c.9665A>G (p.Lys3222Arg) c.8570A>G (p.Lys2857Arg) c.4754A>G (p.Lys1585Arg) c.4307A>G (p.Lys1436Arg) c.3644A>G (p.Lys1215Arg) c.8159A>G (p.Lys2720Arg) | |
5 | g.13770797T>G | CA359204336 | DNAH5 | c.9557A>C (p.Lys3186Thr) c.9512A>C (p.Lys3171Thr) n.269A>C c.9665A>C (p.Lys3222Thr) c.8570A>C (p.Lys2857Thr) c.4754A>C (p.Lys1585Thr) c.4307A>C (p.Lys1436Thr) c.3644A>C (p.Lys1215Thr) c.8159A>C (p.Lys2720Thr) | |
5 | g.13770798del | CA2573138458 | DNAH5 | c.9557del (p.Lys3186SerfsTer18) c.9512del (p.Lys3171SerfsTer18) n.269del c.9665del (p.Lys3222SerfsTer18) c.8570del (p.Lys2857SerfsTer18) c.9665del (p.Lys3222SerfsTer?) c.4754del (p.Lys1585SerfsTer18) c.4307del (p.Lys1436SerfsTer18) c.3644del (p.Lys1215SerfsTer18) c.8159del (p.Lys2720SerfsTer18) | ClinVar dbSNP |
5 | g.13770798T>A | CA359204343 | DNAH5 | c.9556A>T (p.Lys3186Ter) c.9511A>T (p.Lys3171Ter) n.268A>T c.9664A>T (p.Lys3222Ter) c.8569A>T (p.Lys2857Ter) c.4753A>T (p.Lys1585Ter) c.4306A>T (p.Lys1436Ter) c.3643A>T (p.Lys1215Ter) c.8158A>T (p.Lys2720Ter) | |
5 | g.13770798T>C | CA359204344 | DNAH5 | c.9556A>G (p.Lys3186Glu) c.9511A>G (p.Lys3171Glu) n.268A>G c.9664A>G (p.Lys3222Glu) c.8569A>G (p.Lys2857Glu) c.4753A>G (p.Lys1585Glu) c.4306A>G (p.Lys1436Glu) c.3643A>G (p.Lys1215Glu) c.8158A>G (p.Lys2720Glu) | |
5 | g.13770798T>G | CA359204341 | DNAH5 | c.9556A>C (p.Lys3186Gln) c.9511A>C (p.Lys3171Gln) n.268A>C c.9664A>C (p.Lys3222Gln) c.8569A>C (p.Lys2857Gln) c.4753A>C (p.Lys1585Gln) c.4306A>C (p.Lys1436Gln) c.3643A>C (p.Lys1215Gln) c.8158A>C (p.Lys2720Gln) | |
5 | g.13770799A>C | CA359204349 | DNAH5 | c.9555T>G (p.Tyr3185Ter) c.9510T>G (p.Tyr3170Ter) n.267T>G c.9663T>G (p.Tyr3221Ter) c.8568T>G (p.Tyr2856Ter) c.4752T>G (p.Tyr1584Ter) c.4305T>G (p.Tyr1435Ter) c.3642T>G (p.Tyr1214Ter) c.8157T>G (p.Tyr2719Ter) | |
5 | g.13770799A>G | CA443535533 | DNAH5 | c.9555T>C (p.Tyr3185=) c.9510T>C (p.Tyr3170=) n.267T>C c.9663T>C (p.Tyr3221=) c.8568T>C (p.Tyr2856=) c.4752T>C (p.Tyr1584=) c.4305T>C (p.Tyr1435=) c.3642T>C (p.Tyr1214=) c.8157T>C (p.Tyr2719=) | COSMIC |
5 | g.13770799A>T | CA359204347 | DNAH5 | c.9555T>A (p.Tyr3185Ter) c.9510T>A (p.Tyr3170Ter) n.267T>A c.9663T>A (p.Tyr3221Ter) c.8568T>A (p.Tyr2856Ter) c.4752T>A (p.Tyr1584Ter) c.4305T>A (p.Tyr1435Ter) c.3642T>A (p.Tyr1214Ter) c.8157T>A (p.Tyr2719Ter) | ClinVar COSMIC |
5 | g.13770800T>A | CA359204353 | DNAH5 | c.9554A>T (p.Tyr3185Phe) c.9509A>T (p.Tyr3170Phe) n.266A>T c.9662A>T (p.Tyr3221Phe) c.8567A>T (p.Tyr2856Phe) c.4751A>T (p.Tyr1584Phe) c.4304A>T (p.Tyr1435Phe) c.3641A>T (p.Tyr1214Phe) c.8156A>T (p.Tyr2719Phe) | |
5 | g.13770800T>C | CA113932806 | DNAH5 | c.9554A>G (p.Tyr3185Cys) c.9509A>G (p.Tyr3170Cys) n.266A>G c.9662A>G (p.Tyr3221Cys) c.8567A>G (p.Tyr2856Cys) c.4751A>G (p.Tyr1584Cys) c.4304A>G (p.Tyr1435Cys) c.3641A>G (p.Tyr1214Cys) c.8156A>G (p.Tyr2719Cys) | ClinVar dbSNP gnomAD v4 |
5 | g.13770800T>G | CA359204357 | DNAH5 | c.9554A>C (p.Tyr3185Ser) c.9509A>C (p.Tyr3170Ser) n.266A>C c.9662A>C (p.Tyr3221Ser) c.8567A>C (p.Tyr2856Ser) c.4751A>C (p.Tyr1584Ser) c.4304A>C (p.Tyr1435Ser) c.3641A>C (p.Tyr1214Ser) c.8156A>C (p.Tyr2719Ser) | gnomAD v4 |
5 | g.13770800T= | CA1528431188 | DNAH5 | c.9554A= (p.Tyr3185=) c.9509A= (p.Tyr3170=) n.266A= c.9662A= (p.Tyr3221=) c.8567A= (p.Tyr2856=) c.4751A= (p.Tyr1584=) c.4304A= (p.Tyr1435=) c.3641A= (p.Tyr1214=) c.8156A= (p.Tyr2719=) | |
5 | g.13770801A>C | CA359204359 | DNAH5 | c.9553T>G (p.Tyr3185Asp) c.9508T>G (p.Tyr3170Asp) n.265T>G c.9661T>G (p.Tyr3221Asp) c.8566T>G (p.Tyr2856Asp) c.4750T>G (p.Tyr1584Asp) c.4303T>G (p.Tyr1435Asp) c.3640T>G (p.Tyr1214Asp) c.8155T>G (p.Tyr2719Asp) | |
5 | g.13770801A>G | CA359204361 | DNAH5 | c.9553T>C (p.Tyr3185His) c.9508T>C (p.Tyr3170His) n.265T>C c.9661T>C (p.Tyr3221His) c.8566T>C (p.Tyr2856His) c.4750T>C (p.Tyr1584His) c.4303T>C (p.Tyr1435His) c.3640T>C (p.Tyr1214His) c.8155T>C (p.Tyr2719His) | |
5 | g.13770801A>T | CA359204362 | DNAH5 | c.9553T>A (p.Tyr3185Asn) c.9508T>A (p.Tyr3170Asn) n.265T>A c.9661T>A (p.Tyr3221Asn) c.8566T>A (p.Tyr2856Asn) c.4750T>A (p.Tyr1584Asn) c.4303T>A (p.Tyr1435Asn) c.3640T>A (p.Tyr1214Asn) c.8155T>A (p.Tyr2719Asn) | |
5 | g.13770802G>A | CA443535537 | DNAH5 | c.9552C>T (p.Gly3184=) c.9507C>T (p.Gly3169=) n.264C>T c.9660C>T (p.Gly3220=) c.8565C>T (p.Gly2855=) c.4749C>T (p.Gly1583=) c.4302C>T (p.Gly1434=) c.3639C>T (p.Gly1213=) c.8154C>T (p.Gly2718=) | COSMIC |
5 | g.13770802G>C | CA443535538 | DNAH5 | c.9552C>G (p.Gly3184=) c.9507C>G (p.Gly3169=) n.264C>G c.9660C>G (p.Gly3220=) c.8565C>G (p.Gly2855=) c.4749C>G (p.Gly1583=) c.4302C>G (p.Gly1434=) c.3639C>G (p.Gly1213=) c.8154C>G (p.Gly2718=) | |
5 | g.13770802G= | CA1528431189 | DNAH5 | c.9552C= (p.Gly3184=) c.9507C= (p.Gly3169=) n.264C= c.9660C= (p.Gly3220=) c.8565C= (p.Gly2855=) c.4749C= (p.Gly1583=) c.4302C= (p.Gly1434=) c.3639C= (p.Gly1213=) c.8154C= (p.Gly2718=) | |
5 | g.13770802G>T | CA3202518 | DNAH5 | c.9552C>A (p.Gly3184=) c.9507C>A (p.Gly3169=) n.264C>A c.9660C>A (p.Gly3220=) c.8565C>A (p.Gly2855=) c.4749C>A (p.Gly1583=) c.4302C>A (p.Gly1434=) c.3639C>A (p.Gly1213=) c.8154C>A (p.Gly2718=) | ClinVar dbSNP ExAC gnomAD v2 |
5 | g.13770803C>A | CA3202520 | DNAH5 | c.9551G>T (p.Gly3184Val) c.9506G>T (p.Gly3169Val) n.263G>T c.9659G>T (p.Gly3220Val) c.8564G>T (p.Gly2855Val) c.4748G>T (p.Gly1583Val) c.4301G>T (p.Gly1434Val) c.3638G>T (p.Gly1213Val) c.8153G>T (p.Gly2718Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.13770803C= | CA1528431190 | DNAH5 | c.9551G= (p.Gly3184=) c.9506G= (p.Gly3169=) n.263G= c.9659G= (p.Gly3220=) c.8564G= (p.Gly2855=) c.4748G= (p.Gly1583=) c.4301G= (p.Gly1434=) c.3638G= (p.Gly1213=) c.8153G= (p.Gly2718=) | |
5 | g.13770803C>G | CA359204369 | DNAH5 | c.9551G>C (p.Gly3184Ala) c.9506G>C (p.Gly3169Ala) n.263G>C c.9659G>C (p.Gly3220Ala) c.8564G>C (p.Gly2855Ala) c.4748G>C (p.Gly1583Ala) c.4301G>C (p.Gly1434Ala) c.3638G>C (p.Gly1213Ala) c.8153G>C (p.Gly2718Ala) | |
5 | g.13770803C>T | CA3202519 | DNAH5 | c.9551G>A (p.Gly3184Asp) c.9506G>A (p.Gly3169Asp) n.263G>A c.9659G>A (p.Gly3220Asp) c.8564G>A (p.Gly2855Asp) c.4748G>A (p.Gly1583Asp) c.4301G>A (p.Gly1434Asp) c.3638G>A (p.Gly1213Asp) c.8153G>A (p.Gly2718Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770804C>A | CA3202521 | DNAH5 | c.9550G>T (p.Gly3184Cys) c.9505G>T (p.Gly3169Cys) n.262G>T c.9658G>T (p.Gly3220Cys) c.8563G>T (p.Gly2855Cys) c.4747G>T (p.Gly1583Cys) c.4300G>T (p.Gly1434Cys) c.3637G>T (p.Gly1213Cys) c.8152G>T (p.Gly2718Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770804C= | CA1528431191 | DNAH5 | c.9550G= (p.Gly3184=) c.9505G= (p.Gly3169=) n.262G= c.9658G= (p.Gly3220=) c.8563G= (p.Gly2855=) c.4747G= (p.Gly1583=) c.4300G= (p.Gly1434=) c.3637G= (p.Gly1213=) c.8152G= (p.Gly2718=) | |
5 | g.13770804C>G | CA359204376 | DNAH5 | c.9550G>C (p.Gly3184Arg) c.9505G>C (p.Gly3169Arg) n.262G>C c.9658G>C (p.Gly3220Arg) c.8563G>C (p.Gly2855Arg) c.4747G>C (p.Gly1583Arg) c.4300G>C (p.Gly1434Arg) c.3637G>C (p.Gly1213Arg) c.8152G>C (p.Gly2718Arg) | |
5 | g.13770804C>T | CA359204379 | DNAH5 | c.9550G>A (p.Gly3184Ser) c.9505G>A (p.Gly3169Ser) n.262G>A c.9658G>A (p.Gly3220Ser) c.8563G>A (p.Gly2855Ser) c.4747G>A (p.Gly1583Ser) c.4300G>A (p.Gly1434Ser) c.3637G>A (p.Gly1213Ser) c.8152G>A (p.Gly2718Ser) | gnomAD v4 |
5 | g.13770805C>A | CA359204383 | DNAH5 | c.9549G>T (p.Gln3183His) c.9504G>T (p.Gln3168His) n.261G>T c.9657G>T (p.Gln3219His) c.8562G>T (p.Gln2854His) c.4746G>T (p.Gln1582His) c.4299G>T (p.Gln1433His) c.3636G>T (p.Gln1212His) c.8151G>T (p.Gln2717His) | |
5 | g.13770805C= | CA1528431192 | DNAH5 | c.9549G= (p.Gln3183=) c.9504G= (p.Gln3168=) n.261G= c.9657G= (p.Gln3219=) c.8562G= (p.Gln2854=) c.4746G= (p.Gln1582=) c.4299G= (p.Gln1433=) c.3636G= (p.Gln1212=) c.8151G= (p.Gln2717=) | |
5 | g.13770805C>G | CA359204386 | DNAH5 | c.9549G>C (p.Gln3183His) c.9504G>C (p.Gln3168His) n.261G>C c.9657G>C (p.Gln3219His) c.8562G>C (p.Gln2854His) c.4746G>C (p.Gln1582His) c.4299G>C (p.Gln1433His) c.3636G>C (p.Gln1212His) c.8151G>C (p.Gln2717His) | |
5 | g.13770805C>T | CA3202522 | DNAH5 | c.9549G>A (p.Gln3183=) c.9504G>A (p.Gln3168=) n.261G>A c.9657G>A (p.Gln3219=) c.8562G>A (p.Gln2854=) c.4746G>A (p.Gln1582=) c.4299G>A (p.Gln1433=) c.3636G>A (p.Gln1212=) c.8151G>A (p.Gln2717=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770806T>A | CA359204392 | DNAH5 | c.9548A>T (p.Gln3183Leu) c.9503A>T (p.Gln3168Leu) n.260A>T c.9656A>T (p.Gln3219Leu) c.8561A>T (p.Gln2854Leu) c.4745A>T (p.Gln1582Leu) c.4298A>T (p.Gln1433Leu) c.3635A>T (p.Gln1212Leu) c.8150A>T (p.Gln2717Leu) | |
5 | g.13770806T>C | CA359204394 | DNAH5 | c.9548A>G (p.Gln3183Arg) c.9503A>G (p.Gln3168Arg) n.260A>G c.9656A>G (p.Gln3219Arg) c.8561A>G (p.Gln2854Arg) c.4745A>G (p.Gln1582Arg) c.4298A>G (p.Gln1433Arg) c.3635A>G (p.Gln1212Arg) c.8150A>G (p.Gln2717Arg) | |
5 | g.13770806T>G | CA359204395 | DNAH5 | c.9548A>C (p.Gln3183Pro) c.9503A>C (p.Gln3168Pro) n.260A>C c.9656A>C (p.Gln3219Pro) c.8561A>C (p.Gln2854Pro) c.4745A>C (p.Gln1582Pro) c.4298A>C (p.Gln1433Pro) c.3635A>C (p.Gln1212Pro) c.8150A>C (p.Gln2717Pro) | |
5 | g.13770807G>A | CA359204398 | DNAH5 | c.9547C>T (p.Gln3183Ter) c.9502C>T (p.Gln3168Ter) n.259C>T c.9655C>T (p.Gln3219Ter) c.8560C>T (p.Gln2854Ter) c.4744C>T (p.Gln1582Ter) c.4297C>T (p.Gln1433Ter) c.3634C>T (p.Gln1212Ter) c.8149C>T (p.Gln2717Ter) | |
5 | g.13770807G>C | CA359204400 | DNAH5 | c.9547C>G (p.Gln3183Glu) c.9502C>G (p.Gln3168Glu) n.259C>G c.9655C>G (p.Gln3219Glu) c.8560C>G (p.Gln2854Glu) c.4744C>G (p.Gln1582Glu) c.4297C>G (p.Gln1433Glu) c.3634C>G (p.Gln1212Glu) c.8149C>G (p.Gln2717Glu) | |
5 | g.13770807G>T | CA359204402 | DNAH5 | c.9547C>A (p.Gln3183Lys) c.9502C>A (p.Gln3168Lys) n.259C>A c.9655C>A (p.Gln3219Lys) c.8560C>A (p.Gln2854Lys) c.4744C>A (p.Gln1582Lys) c.4297C>A (p.Gln1433Lys) c.3634C>A (p.Gln1212Lys) c.8149C>A (p.Gln2717Lys) | |
5 | g.13770808A= | CA1528431193 | DNAH5 | c.9546T= (p.Ile3182=) c.9501T= (p.Ile3167=) n.258T= c.9654T= (p.Ile3218=) c.8559T= (p.Ile2853=) c.4743T= (p.Ile1581=) c.4296T= (p.Ile1432=) c.3633T= (p.Ile1211=) c.8148T= (p.Ile2716=) | |
5 | g.13770808A>C | CA3202523 | DNAH5 | c.9546T>G (p.Ile3182Met) c.9501T>G (p.Ile3167Met) n.258T>G c.9654T>G (p.Ile3218Met) c.8559T>G (p.Ile2853Met) c.4743T>G (p.Ile1581Met) c.4296T>G (p.Ile1432Met) c.3633T>G (p.Ile1211Met) c.8148T>G (p.Ile2716Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770808A>G | CA443535542 | DNAH5 | c.9546T>C (p.Ile3182=) c.9501T>C (p.Ile3167=) n.258T>C c.9654T>C (p.Ile3218=) c.8559T>C (p.Ile2853=) c.4743T>C (p.Ile1581=) c.4296T>C (p.Ile1432=) c.3633T>C (p.Ile1211=) c.8148T>C (p.Ile2716=) | ClinVar |
5 | g.13770808A>T | CA443535543 | DNAH5 | c.9546T>A (p.Ile3182=) c.9501T>A (p.Ile3167=) n.258T>A c.9654T>A (p.Ile3218=) c.8559T>A (p.Ile2853=) c.4743T>A (p.Ile1581=) c.4296T>A (p.Ile1432=) c.3633T>A (p.Ile1211=) c.8148T>A (p.Ile2716=) | |
5 | g.13770809A= | CA1528431194 | DNAH5 | c.9545T= (p.Ile3182=) c.9500T= (p.Ile3167=) n.257T= c.9653T= (p.Ile3218=) c.8558T= (p.Ile2853=) c.4742T= (p.Ile1581=) c.4295T= (p.Ile1432=) c.3632T= (p.Ile1211=) c.8147T= (p.Ile2716=) | |
5 | g.13770809A>C | CA359204405 | DNAH5 | c.9545T>G (p.Ile3182Ser) c.9500T>G (p.Ile3167Ser) n.257T>G c.9653T>G (p.Ile3218Ser) c.8558T>G (p.Ile2853Ser) c.4742T>G (p.Ile1581Ser) c.4295T>G (p.Ile1432Ser) c.3632T>G (p.Ile1211Ser) c.8147T>G (p.Ile2716Ser) | |
5 | g.13770809A>G | CA359204406 | DNAH5 | c.9545T>C (p.Ile3182Thr) c.9500T>C (p.Ile3167Thr) n.257T>C c.9653T>C (p.Ile3218Thr) c.8558T>C (p.Ile2853Thr) c.4742T>C (p.Ile1581Thr) c.4295T>C (p.Ile1432Thr) c.3632T>C (p.Ile1211Thr) c.8147T>C (p.Ile2716Thr) | dbSNP |
5 | g.13770809A>T | CA359204408 | DNAH5 | c.9545T>A (p.Ile3182Asn) c.9500T>A (p.Ile3167Asn) n.257T>A c.9653T>A (p.Ile3218Asn) c.8558T>A (p.Ile2853Asn) c.4742T>A (p.Ile1581Asn) c.4295T>A (p.Ile1432Asn) c.3632T>A (p.Ile1211Asn) c.8147T>A (p.Ile2716Asn) | |
5 | g.13770810del | CA2673268301 | DNAH5 | c.9544del (p.Ile3182PhefsTer22) c.9499del (p.Ile3167PhefsTer22) n.256del c.9652del (p.Ile3218PhefsTer22) c.8557del (p.Ile2853PhefsTer22) c.9652del (p.Ile3218PhefsTer?) c.4741del (p.Ile1581PhefsTer22) c.4294del (p.Ile1432PhefsTer22) c.3631del (p.Ile1211PhefsTer22) c.8146del (p.Ile2716PhefsTer22) | gnomAD v4 |
5 | g.13770810T>A | CA359204413 | DNAH5 | c.9544A>T (p.Ile3182Phe) c.9499A>T (p.Ile3167Phe) n.256A>T c.9652A>T (p.Ile3218Phe) c.8557A>T (p.Ile2853Phe) c.4741A>T (p.Ile1581Phe) c.4294A>T (p.Ile1432Phe) c.3631A>T (p.Ile1211Phe) c.8146A>T (p.Ile2716Phe) | gnomAD v4 |
5 | g.13770810T>C | CA359204412 | DNAH5 | c.9544A>G (p.Ile3182Val) c.9499A>G (p.Ile3167Val) n.256A>G c.9652A>G (p.Ile3218Val) c.8557A>G (p.Ile2853Val) c.4741A>G (p.Ile1581Val) c.4294A>G (p.Ile1432Val) c.3631A>G (p.Ile1211Val) c.8146A>G (p.Ile2716Val) | gnomAD v4 |
5 | g.13770810T>G | CA113932883 | DNAH5 | c.9544A>C (p.Ile3182Leu) c.9499A>C (p.Ile3167Leu) n.256A>C c.9652A>C (p.Ile3218Leu) c.8557A>C (p.Ile2853Leu) c.4741A>C (p.Ile1581Leu) c.4294A>C (p.Ile1432Leu) c.3631A>C (p.Ile1211Leu) c.8146A>C (p.Ile2716Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770810T= | CA1528431195 | DNAH5 | c.9544A= (p.Ile3182=) c.9499A= (p.Ile3167=) n.256A= c.9652A= (p.Ile3218=) c.8557A= (p.Ile2853=) c.4741A= (p.Ile1581=) c.4294A= (p.Ile1432=) c.3631A= (p.Ile1211=) c.8146A= (p.Ile2716=) | |
5 | g.13770811A>C | CA359204414 | DNAH5 | c.9543T>G (p.Phe3181Leu) c.9498T>G (p.Phe3166Leu) n.255T>G c.9651T>G (p.Phe3217Leu) c.8556T>G (p.Phe2852Leu) c.4740T>G (p.Phe1580Leu) c.4293T>G (p.Phe1431Leu) c.3630T>G (p.Phe1210Leu) c.8145T>G (p.Phe2715Leu) | gnomAD v4 |
5 | g.13770811A>G | CA443535544 | DNAH5 | c.9543T>C (p.Phe3181=) c.9498T>C (p.Phe3166=) n.255T>C c.9651T>C (p.Phe3217=) c.8556T>C (p.Phe2852=) c.4740T>C (p.Phe1580=) c.4293T>C (p.Phe1431=) c.3630T>C (p.Phe1210=) c.8145T>C (p.Phe2715=) | ClinVar dbSNP |
5 | g.13770811A>T | CA359204415 | DNAH5 | c.9543T>A (p.Phe3181Leu) c.9498T>A (p.Phe3166Leu) n.255T>A c.9651T>A (p.Phe3217Leu) c.8556T>A (p.Phe2852Leu) c.4740T>A (p.Phe1580Leu) c.4293T>A (p.Phe1431Leu) c.3630T>A (p.Phe1210Leu) c.8145T>A (p.Phe2715Leu) | |
5 | g.13770812A>C | CA359204416 | DNAH5 | c.9542T>G (p.Phe3181Cys) c.9497T>G (p.Phe3166Cys) n.254T>G c.9650T>G (p.Phe3217Cys) c.8555T>G (p.Phe2852Cys) c.4739T>G (p.Phe1580Cys) c.4292T>G (p.Phe1431Cys) c.3629T>G (p.Phe1210Cys) c.8144T>G (p.Phe2715Cys) | |
5 | g.13770812A>G | CA359204418 | DNAH5 | c.9542T>C (p.Phe3181Ser) c.9497T>C (p.Phe3166Ser) n.254T>C c.9650T>C (p.Phe3217Ser) c.8555T>C (p.Phe2852Ser) c.4739T>C (p.Phe1580Ser) c.4292T>C (p.Phe1431Ser) c.3629T>C (p.Phe1210Ser) c.8144T>C (p.Phe2715Ser) | |
5 | g.13770812A>T | CA359204419 | DNAH5 | c.9542T>A (p.Phe3181Tyr) c.9497T>A (p.Phe3166Tyr) n.254T>A c.9650T>A (p.Phe3217Tyr) c.8555T>A (p.Phe2852Tyr) c.4739T>A (p.Phe1580Tyr) c.4292T>A (p.Phe1431Tyr) c.3629T>A (p.Phe1210Tyr) c.8144T>A (p.Phe2715Tyr) | |
5 | g.13770813A>C | CA359204426 | DNAH5 | c.9541T>G (p.Phe3181Val) c.9496T>G (p.Phe3166Val) n.253T>G c.9649T>G (p.Phe3217Val) c.8554T>G (p.Phe2852Val) c.4738T>G (p.Phe1580Val) c.4291T>G (p.Phe1431Val) c.3628T>G (p.Phe1210Val) c.8143T>G (p.Phe2715Val) | |
5 | g.13770813A>G | CA359204425 | DNAH5 | c.9541T>C (p.Phe3181Leu) c.9496T>C (p.Phe3166Leu) n.253T>C c.9649T>C (p.Phe3217Leu) c.8554T>C (p.Phe2852Leu) c.4738T>C (p.Phe1580Leu) c.4291T>C (p.Phe1431Leu) c.3628T>C (p.Phe1210Leu) c.8143T>C (p.Phe2715Leu) | |
5 | g.13770813A>T | CA359204420 | DNAH5 | c.9541T>A (p.Phe3181Ile) c.9496T>A (p.Phe3166Ile) n.253T>A c.9649T>A (p.Phe3217Ile) c.8554T>A (p.Phe2852Ile) c.4738T>A (p.Phe1580Ile) c.4291T>A (p.Phe1431Ile) c.3628T>A (p.Phe1210Ile) c.8143T>A (p.Phe2715Ile) | |
5 | g.13770814G>A | CA443535546 | DNAH5 | c.9540C>T (p.Ser3180=) c.9495C>T (p.Ser3165=) n.252C>T c.9648C>T (p.Ser3216=) c.8553C>T (p.Ser2851=) c.4737C>T (p.Ser1579=) c.4290C>T (p.Ser1430=) c.3627C>T (p.Ser1209=) c.8142C>T (p.Ser2714=) | |
5 | g.13770814G>C | CA443535547 | DNAH5 | c.9540C>G (p.Ser3180=) c.9495C>G (p.Ser3165=) n.252C>G c.9648C>G (p.Ser3216=) c.8553C>G (p.Ser2851=) c.4737C>G (p.Ser1579=) c.4290C>G (p.Ser1430=) c.3627C>G (p.Ser1209=) c.8142C>G (p.Ser2714=) | |
5 | g.13770814G>T | CA443535548 | DNAH5 | c.9540C>A (p.Ser3180=) c.9495C>A (p.Ser3165=) n.252C>A c.9648C>A (p.Ser3216=) c.8553C>A (p.Ser2851=) c.4737C>A (p.Ser1579=) c.4290C>A (p.Ser1430=) c.3627C>A (p.Ser1209=) c.8142C>A (p.Ser2714=) | |
5 | g.13770815del | CA2499217610 | DNAH5 | c.9540del (p.Phe3181LeufsTer23) c.9495del (p.Phe3166LeufsTer23) n.252del c.9648del (p.Phe3217LeufsTer23) c.8553del (p.Phe2852LeufsTer23) c.9648del (p.Phe3217LeufsTer?) c.4737del (p.Phe1580LeufsTer23) c.4290del (p.Phe1431LeufsTer23) c.3627del (p.Phe1210LeufsTer23) c.8142del (p.Phe2715LeufsTer23) | ClinVar dbSNP |
5 | g.13770815G>A | CA359204429 | DNAH5 | c.9539C>T (p.Ser3180Phe) c.9494C>T (p.Ser3165Phe) n.251C>T c.9647C>T (p.Ser3216Phe) c.8552C>T (p.Ser2851Phe) c.4736C>T (p.Ser1579Phe) c.4289C>T (p.Ser1430Phe) c.3626C>T (p.Ser1209Phe) c.8141C>T (p.Ser2714Phe) | gnomAD v4 |
5 | g.13770815G>C | CA359204430 | DNAH5 | c.9539C>G (p.Ser3180Cys) c.9494C>G (p.Ser3165Cys) n.251C>G c.9647C>G (p.Ser3216Cys) c.8552C>G (p.Ser2851Cys) c.4736C>G (p.Ser1579Cys) c.4289C>G (p.Ser1430Cys) c.3626C>G (p.Ser1209Cys) c.8141C>G (p.Ser2714Cys) | |
5 | g.13770815G>T | CA359204432 | DNAH5 | c.9539C>A (p.Ser3180Tyr) c.9494C>A (p.Ser3165Tyr) n.251C>A c.9647C>A (p.Ser3216Tyr) c.8552C>A (p.Ser2851Tyr) c.4736C>A (p.Ser1579Tyr) c.4289C>A (p.Ser1430Tyr) c.3626C>A (p.Ser1209Tyr) c.8141C>A (p.Ser2714Tyr) | |
5 | g.13770815_13770816delinsAG | CA2580072361 | DNAH5 | c.9538_9539delinsCT (p.Ser3180Leu) c.9493_9494delinsCT (p.Ser3165Leu) n.250_251delinsCT c.9646_9647delinsCT (p.Ser3216Leu) c.8551_8552delinsCT (p.Ser2851Leu) c.4735_4736delinsCT (p.Ser1579Leu) c.4288_4289delinsCT (p.Ser1430Leu) c.3625_3626delinsCT (p.Ser1209Leu) c.8140_8141delinsCT (p.Ser2714Leu) | ClinVar |
5 | g.13770816A= | CA1528431196 | DNAH5 | c.9538T= (p.Ser3180=) c.9493T= (p.Ser3165=) n.250T= c.9646T= (p.Ser3216=) c.8551T= (p.Ser2851=) c.4735T= (p.Ser1579=) c.4288T= (p.Ser1430=) c.3625T= (p.Ser1209=) c.8140T= (p.Ser2714=) | |
5 | g.13770816A>C | CA359204434 | DNAH5 | c.9538T>G (p.Ser3180Ala) c.9493T>G (p.Ser3165Ala) n.250T>G c.9646T>G (p.Ser3216Ala) c.8551T>G (p.Ser2851Ala) c.4735T>G (p.Ser1579Ala) c.4288T>G (p.Ser1430Ala) c.3625T>G (p.Ser1209Ala) c.8140T>G (p.Ser2714Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770816A>G | CA113932891 | DNAH5 | c.9538T>C (p.Ser3180Pro) c.9493T>C (p.Ser3165Pro) n.250T>C c.9646T>C (p.Ser3216Pro) c.8551T>C (p.Ser2851Pro) c.4735T>C (p.Ser1579Pro) c.4288T>C (p.Ser1430Pro) c.3625T>C (p.Ser1209Pro) c.8140T>C (p.Ser2714Pro) | dbSNP gnomAD v4 |
5 | g.13770816A>T | CA359204437 | DNAH5 | c.9538T>A (p.Ser3180Thr) c.9493T>A (p.Ser3165Thr) n.250T>A c.9646T>A (p.Ser3216Thr) c.8551T>A (p.Ser2851Thr) c.4735T>A (p.Ser1579Thr) c.4288T>A (p.Ser1430Thr) c.3625T>A (p.Ser1209Thr) c.8140T>A (p.Ser2714Thr) | |
5 | g.13770817G>A | CA443535552 | DNAH5 | c.9537C>T (p.Leu3179=) c.9492C>T (p.Leu3164=) n.249C>T c.9645C>T (p.Leu3215=) c.8550C>T (p.Leu2850=) c.4734C>T (p.Leu1578=) c.4287C>T (p.Leu1429=) c.3624C>T (p.Leu1208=) c.8139C>T (p.Leu2713=) | |
5 | g.13770817G>C | CA443535553 | DNAH5 | c.9537C>G (p.Leu3179=) c.9492C>G (p.Leu3164=) n.249C>G c.9645C>G (p.Leu3215=) c.8550C>G (p.Leu2850=) c.4734C>G (p.Leu1578=) c.4287C>G (p.Leu1429=) c.3624C>G (p.Leu1208=) c.8139C>G (p.Leu2713=) | |
5 | g.13770817G>T | CA443535554 | DNAH5 | c.9537C>A (p.Leu3179=) c.9492C>A (p.Leu3164=) n.249C>A c.9645C>A (p.Leu3215=) c.8550C>A (p.Leu2850=) c.4734C>A (p.Leu1578=) c.4287C>A (p.Leu1429=) c.3624C>A (p.Leu1208=) c.8139C>A (p.Leu2713=) | |
5 | g.13770818A>C | CA359204441 | DNAH5 | c.9536T>G (p.Leu3179Arg) c.9491T>G (p.Leu3164Arg) n.248T>G c.9644T>G (p.Leu3215Arg) c.8549T>G (p.Leu2850Arg) c.4733T>G (p.Leu1578Arg) c.4286T>G (p.Leu1429Arg) c.3623T>G (p.Leu1208Arg) c.8138T>G (p.Leu2713Arg) | |
5 | g.13770818A>G | CA359204452 | DNAH5 | c.9536T>C (p.Leu3179Pro) c.9491T>C (p.Leu3164Pro) n.248T>C c.9644T>C (p.Leu3215Pro) c.8549T>C (p.Leu2850Pro) c.4733T>C (p.Leu1578Pro) c.4286T>C (p.Leu1429Pro) c.3623T>C (p.Leu1208Pro) c.8138T>C (p.Leu2713Pro) | |
5 | g.13770818A>T | CA359204449 | DNAH5 | c.9536T>A (p.Leu3179His) c.9491T>A (p.Leu3164His) n.248T>A c.9644T>A (p.Leu3215His) c.8549T>A (p.Leu2850His) c.4733T>A (p.Leu1578His) c.4286T>A (p.Leu1429His) c.3623T>A (p.Leu1208His) c.8138T>A (p.Leu2713His) | |
5 | g.13770819G>A | CA359204455 | DNAH5 | c.9535C>T (p.Leu3179Phe) c.9490C>T (p.Leu3164Phe) n.247C>T c.9643C>T (p.Leu3215Phe) c.8548C>T (p.Leu2850Phe) c.4732C>T (p.Leu1578Phe) c.4285C>T (p.Leu1429Phe) c.3622C>T (p.Leu1208Phe) c.8137C>T (p.Leu2713Phe) | dbSNP COSMIC |
5 | g.13770819G>C | CA359204456 | DNAH5 | c.9535C>G (p.Leu3179Val) c.9490C>G (p.Leu3164Val) n.247C>G c.9643C>G (p.Leu3215Val) c.8548C>G (p.Leu2850Val) c.4732C>G (p.Leu1578Val) c.4285C>G (p.Leu1429Val) c.3622C>G (p.Leu1208Val) c.8137C>G (p.Leu2713Val) | gnomAD v4 |
5 | g.13770819G= | CA1528431197 | DNAH5 | c.9535C= (p.Leu3179=) c.9490C= (p.Leu3164=) n.247C= c.9643C= (p.Leu3215=) c.8548C= (p.Leu2850=) c.4732C= (p.Leu1578=) c.4285C= (p.Leu1429=) c.3622C= (p.Leu1208=) c.8137C= (p.Leu2713=) | |
5 | g.13770819G>T | CA359204457 | DNAH5 | c.9535C>A (p.Leu3179Ile) c.9490C>A (p.Leu3164Ile) n.247C>A c.9643C>A (p.Leu3215Ile) c.8548C>A (p.Leu2850Ile) c.4732C>A (p.Leu1578Ile) c.4285C>A (p.Leu1429Ile) c.3622C>A (p.Leu1208Ile) c.8137C>A (p.Leu2713Ile) | |
5 | g.13770820G>A | CA443535558 | DNAH5 | c.9534C>T (p.Tyr3178=) c.9489C>T (p.Tyr3163=) n.246C>T c.9642C>T (p.Tyr3214=) c.8547C>T (p.Tyr2849=) c.4731C>T (p.Tyr1577=) c.4284C>T (p.Tyr1428=) c.3621C>T (p.Tyr1207=) c.8136C>T (p.Tyr2712=) | COSMIC |
5 | g.13770820G>C | CA359204461 | DNAH5 | c.9534C>G (p.Tyr3178Ter) c.9489C>G (p.Tyr3163Ter) n.246C>G c.9642C>G (p.Tyr3214Ter) c.8547C>G (p.Tyr2849Ter) c.4731C>G (p.Tyr1577Ter) c.4284C>G (p.Tyr1428Ter) c.3621C>G (p.Tyr1207Ter) c.8136C>G (p.Tyr2712Ter) | |
5 | g.13770820G= | CA1528431198 | DNAH5 | c.9534C= (p.Tyr3178=) c.9489C= (p.Tyr3163=) n.246C= c.9642C= (p.Tyr3214=) c.8547C= (p.Tyr2849=) c.4731C= (p.Tyr1577=) c.4284C= (p.Tyr1428=) c.3621C= (p.Tyr1207=) c.8136C= (p.Tyr2712=) | |
5 | g.13770820G>T | CA359204463 | DNAH5 | c.9534C>A (p.Tyr3178Ter) c.9489C>A (p.Tyr3163Ter) n.246C>A c.9642C>A (p.Tyr3214Ter) c.8547C>A (p.Tyr2849Ter) c.4731C>A (p.Tyr1577Ter) c.4284C>A (p.Tyr1428Ter) c.3621C>A (p.Tyr1207Ter) c.8136C>A (p.Tyr2712Ter) | ClinVar dbSNP |
5 | g.13770821T>A | CA359204466 | DNAH5 | c.9533A>T (p.Tyr3178Phe) c.9488A>T (p.Tyr3163Phe) n.245A>T c.9641A>T (p.Tyr3214Phe) c.8546A>T (p.Tyr2849Phe) c.4730A>T (p.Tyr1577Phe) c.4283A>T (p.Tyr1428Phe) c.3620A>T (p.Tyr1207Phe) c.8135A>T (p.Tyr2712Phe) | |
5 | g.13770821T>C | CA359204468 | DNAH5 | c.9533A>G (p.Tyr3178Cys) c.9488A>G (p.Tyr3163Cys) n.245A>G c.9641A>G (p.Tyr3214Cys) c.8546A>G (p.Tyr2849Cys) c.4730A>G (p.Tyr1577Cys) c.4283A>G (p.Tyr1428Cys) c.3620A>G (p.Tyr1207Cys) c.8135A>G (p.Tyr2712Cys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770821T>G | CA359204471 | DNAH5 | c.9533A>C (p.Tyr3178Ser) c.9488A>C (p.Tyr3163Ser) n.245A>C c.9641A>C (p.Tyr3214Ser) c.8546A>C (p.Tyr2849Ser) c.4730A>C (p.Tyr1577Ser) c.4283A>C (p.Tyr1428Ser) c.3620A>C (p.Tyr1207Ser) c.8135A>C (p.Tyr2712Ser) | |
5 | g.13770821T= | CA1528431199 | DNAH5 | c.9533A= (p.Tyr3178=) c.9488A= (p.Tyr3163=) n.245A= c.9641A= (p.Tyr3214=) c.8546A= (p.Tyr2849=) c.4730A= (p.Tyr1577=) c.4283A= (p.Tyr1428=) c.3620A= (p.Tyr1207=) c.8135A= (p.Tyr2712=) | |
5 | g.13770822A>C | CA359204475 | DNAH5 | c.9532T>G (p.Tyr3178Asp) c.9487T>G (p.Tyr3163Asp) n.244T>G c.9640T>G (p.Tyr3214Asp) c.8545T>G (p.Tyr2849Asp) c.4729T>G (p.Tyr1577Asp) c.4282T>G (p.Tyr1428Asp) c.3619T>G (p.Tyr1207Asp) c.8134T>G (p.Tyr2712Asp) | |
5 | g.13770822A>G | CA359204477 | DNAH5 | c.9532T>C (p.Tyr3178His) c.9487T>C (p.Tyr3163His) n.244T>C c.9640T>C (p.Tyr3214His) c.8545T>C (p.Tyr2849His) c.4729T>C (p.Tyr1577His) c.4282T>C (p.Tyr1428His) c.3619T>C (p.Tyr1207His) c.8134T>C (p.Tyr2712His) | gnomAD v4 |
5 | g.13770822A>T | CA359204478 | DNAH5 | c.9532T>A (p.Tyr3178Asn) c.9487T>A (p.Tyr3163Asn) n.244T>A c.9640T>A (p.Tyr3214Asn) c.8545T>A (p.Tyr2849Asn) c.4729T>A (p.Tyr1577Asn) c.4282T>A (p.Tyr1428Asn) c.3619T>A (p.Tyr1207Asn) c.8134T>A (p.Tyr2712Asn) | |
5 | g.13770822dup | CA3202524 | DNAH5 | c.9532dup (p.Tyr3178LeufsTer9) c.9487dup (p.Tyr3163LeufsTer9) n.244dup c.9640dup (p.Tyr3214LeufsTer9) c.8545dup (p.Tyr2849LeufsTer9) c.4729dup (p.Tyr1577LeufsTer9) c.4282dup (p.Tyr1428LeufsTer9) c.3619dup (p.Tyr1207LeufsTer9) c.8134dup (p.Tyr2712LeufsTer9) | dbSNP ExAC gnomAD v2 |
5 | g.13770823T>A | CA443535563 | DNAH5 | c.9531A>T (p.Ser3177=) c.9486A>T (p.Ser3162=) n.243A>T c.9639A>T (p.Ser3213=) c.8544A>T (p.Ser2848=) c.4728A>T (p.Ser1576=) c.4281A>T (p.Ser1427=) c.3618A>T (p.Ser1206=) c.8133A>T (p.Ser2711=) | gnomAD v4 |
5 | g.13770823T>C | CA3202525 | DNAH5 | c.9531A>G (p.Ser3177=) c.9486A>G (p.Ser3162=) n.243A>G c.9639A>G (p.Ser3213=) c.8544A>G (p.Ser2848=) c.4728A>G (p.Ser1576=) c.4281A>G (p.Ser1427=) c.3618A>G (p.Ser1206=) c.8133A>G (p.Ser2711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770823T>G | CA443535564 | DNAH5 | c.9531A>C (p.Ser3177=) c.9486A>C (p.Ser3162=) n.243A>C c.9639A>C (p.Ser3213=) c.8544A>C (p.Ser2848=) c.4728A>C (p.Ser1576=) c.4281A>C (p.Ser1427=) c.3618A>C (p.Ser1206=) c.8133A>C (p.Ser2711=) | |
5 | g.13770823T= | CA1528431200 | DNAH5 | c.9531A= (p.Ser3177=) c.9486A= (p.Ser3162=) n.243A= c.9639A= (p.Ser3213=) c.8544A= (p.Ser2848=) c.4728A= (p.Ser1576=) c.4281A= (p.Ser1427=) c.3618A= (p.Ser1206=) c.8133A= (p.Ser2711=) | |
5 | g.13770824G>A | CA359204485 | DNAH5 | c.9530C>T (p.Ser3177Leu) c.9485C>T (p.Ser3162Leu) n.242C>T c.9638C>T (p.Ser3213Leu) c.8543C>T (p.Ser2848Leu) c.4727C>T (p.Ser1576Leu) c.4280C>T (p.Ser1427Leu) c.3617C>T (p.Ser1206Leu) c.8132C>T (p.Ser2711Leu) | COSMIC |
5 | g.13770824G>C | CA359204481 | DNAH5 | c.9530C>G (p.Ser3177Ter) c.9485C>G (p.Ser3162Ter) n.242C>G c.9638C>G (p.Ser3213Ter) c.8543C>G (p.Ser2848Ter) c.4727C>G (p.Ser1576Ter) c.4280C>G (p.Ser1427Ter) c.3617C>G (p.Ser1206Ter) c.8132C>G (p.Ser2711Ter) | |
5 | g.13770824G>T | CA359204487 | DNAH5 | c.9530C>A (p.Ser3177Ter) c.9485C>A (p.Ser3162Ter) n.242C>A c.9638C>A (p.Ser3213Ter) c.8543C>A (p.Ser2848Ter) c.4727C>A (p.Ser1576Ter) c.4280C>A (p.Ser1427Ter) c.3617C>A (p.Ser1206Ter) c.8132C>A (p.Ser2711Ter) | ClinVar gnomAD v4 |
5 | g.13770825A>C | CA359204491 | DNAH5 | c.9529T>G (p.Ser3177Ala) c.9484T>G (p.Ser3162Ala) n.241T>G c.9637T>G (p.Ser3213Ala) c.8542T>G (p.Ser2848Ala) c.4726T>G (p.Ser1576Ala) c.4279T>G (p.Ser1427Ala) c.3616T>G (p.Ser1206Ala) c.8131T>G (p.Ser2711Ala) | |
5 | g.13770825A>G | CA359204496 | DNAH5 | c.9529T>C (p.Ser3177Pro) c.9484T>C (p.Ser3162Pro) n.241T>C c.9637T>C (p.Ser3213Pro) c.8542T>C (p.Ser2848Pro) c.4726T>C (p.Ser1576Pro) c.4279T>C (p.Ser1427Pro) c.3616T>C (p.Ser1206Pro) c.8131T>C (p.Ser2711Pro) | |
5 | g.13770825A>T | CA359204494 | DNAH5 | c.9529T>A (p.Ser3177Thr) c.9484T>A (p.Ser3162Thr) n.241T>A c.9637T>A (p.Ser3213Thr) c.8542T>A (p.Ser2848Thr) c.4726T>A (p.Ser1576Thr) c.4279T>A (p.Ser1427Thr) c.3616T>A (p.Ser1206Thr) c.8131T>A (p.Ser2711Thr) | |
5 | g.13770826T>A | CA359204498 | DNAH5 | c.9528A>T (p.Lys3176Asn) c.9483A>T (p.Lys3161Asn) n.240A>T c.9636A>T (p.Lys3212Asn) c.8541A>T (p.Lys2847Asn) c.4725A>T (p.Lys1575Asn) c.4278A>T (p.Lys1426Asn) c.3615A>T (p.Lys1205Asn) c.8130A>T (p.Lys2710Asn) | |
5 | g.13770826T>C | CA443535566 | DNAH5 | c.9528A>G (p.Lys3176=) c.9483A>G (p.Lys3161=) n.240A>G c.9636A>G (p.Lys3212=) c.8541A>G (p.Lys2847=) c.4725A>G (p.Lys1575=) c.4278A>G (p.Lys1426=) c.3615A>G (p.Lys1205=) c.8130A>G (p.Lys2710=) | |
5 | g.13770826T>G | CA359204501 | DNAH5 | c.9528A>C (p.Lys3176Asn) c.9483A>C (p.Lys3161Asn) n.240A>C c.9636A>C (p.Lys3212Asn) c.8541A>C (p.Lys2847Asn) c.4725A>C (p.Lys1575Asn) c.4278A>C (p.Lys1426Asn) c.3615A>C (p.Lys1205Asn) c.8130A>C (p.Lys2710Asn) | |
5 | g.13770827T>A | CA359204502 | DNAH5 | c.9527A>T (p.Lys3176Ile) c.9482A>T (p.Lys3161Ile) n.239A>T c.9635A>T (p.Lys3212Ile) c.8540A>T (p.Lys2847Ile) c.4724A>T (p.Lys1575Ile) c.4277A>T (p.Lys1426Ile) c.3614A>T (p.Lys1205Ile) c.8129A>T (p.Lys2710Ile) | |
5 | g.13770827T>C | CA359204505 | DNAH5 | c.9527A>G (p.Lys3176Arg) c.9482A>G (p.Lys3161Arg) n.239A>G c.9635A>G (p.Lys3212Arg) c.8540A>G (p.Lys2847Arg) c.4724A>G (p.Lys1575Arg) c.4277A>G (p.Lys1426Arg) c.3614A>G (p.Lys1205Arg) c.8129A>G (p.Lys2710Arg) | |
5 | g.13770827T>G | CA359204507 | DNAH5 | c.9527A>C (p.Lys3176Thr) c.9482A>C (p.Lys3161Thr) n.239A>C c.9635A>C (p.Lys3212Thr) c.8540A>C (p.Lys2847Thr) c.4724A>C (p.Lys1575Thr) c.4277A>C (p.Lys1426Thr) c.3614A>C (p.Lys1205Thr) c.8129A>C (p.Lys2710Thr) | |
5 | g.13770828T>A | CA359204510 | DNAH5 | c.9526A>T (p.Lys3176Ter) c.9481A>T (p.Lys3161Ter) n.238A>T c.9634A>T (p.Lys3212Ter) c.8539A>T (p.Lys2847Ter) c.4723A>T (p.Lys1575Ter) c.4276A>T (p.Lys1426Ter) c.3613A>T (p.Lys1205Ter) c.8128A>T (p.Lys2710Ter) | |
5 | g.13770828T>C | CA359204512 | DNAH5 | c.9526A>G (p.Lys3176Glu) c.9481A>G (p.Lys3161Glu) n.238A>G c.9634A>G (p.Lys3212Glu) c.8539A>G (p.Lys2847Glu) c.4723A>G (p.Lys1575Glu) c.4276A>G (p.Lys1426Glu) c.3613A>G (p.Lys1205Glu) c.8128A>G (p.Lys2710Glu) | |
5 | g.13770828T>G | CA359204515 | DNAH5 | c.9526A>C (p.Lys3176Gln) c.9481A>C (p.Lys3161Gln) n.238A>C c.9634A>C (p.Lys3212Gln) c.8539A>C (p.Lys2847Gln) c.4723A>C (p.Lys1575Gln) c.4276A>C (p.Lys1426Gln) c.3613A>C (p.Lys1205Gln) c.8128A>C (p.Lys2710Gln) | |
5 | g.13770829G>A | CA113932908 | DNAH5 | c.9525C>T (p.Pro3175=) c.9480C>T (p.Pro3160=) n.237C>T c.9633C>T (p.Pro3211=) c.8538C>T (p.Pro2846=) c.4722C>T (p.Pro1574=) c.4275C>T (p.Pro1425=) c.3612C>T (p.Pro1204=) c.8127C>T (p.Pro2709=) | dbSNP |
5 | g.13770829G>C | CA443535570 | DNAH5 | c.9525C>G (p.Pro3175=) c.9480C>G (p.Pro3160=) n.237C>G c.9633C>G (p.Pro3211=) c.8538C>G (p.Pro2846=) c.4722C>G (p.Pro1574=) c.4275C>G (p.Pro1425=) c.3612C>G (p.Pro1204=) c.8127C>G (p.Pro2709=) | |
5 | g.13770829G= | CA1528431201 | DNAH5 | c.9525C= (p.Pro3175=) c.9480C= (p.Pro3160=) n.237C= c.9633C= (p.Pro3211=) c.8538C= (p.Pro2846=) c.4722C= (p.Pro1574=) c.4275C= (p.Pro1425=) c.3612C= (p.Pro1204=) c.8127C= (p.Pro2709=) | |
5 | g.13770829G>T | CA443535571 | DNAH5 | c.9525C>A (p.Pro3175=) c.9480C>A (p.Pro3160=) n.237C>A c.9633C>A (p.Pro3211=) c.8538C>A (p.Pro2846=) c.4722C>A (p.Pro1574=) c.4275C>A (p.Pro1425=) c.3612C>A (p.Pro1204=) c.8127C>A (p.Pro2709=) | |
5 | g.13770830_13770831dup | CA2765348512 | DNAH5 | c.9524_9525dup (p.Lys3176ProfsTer29) c.9479_9480dup (p.Lys3161ProfsTer29) n.236_237dup c.9632_9633dup (p.Lys3212ProfsTer29) c.8537_8538dup (p.Lys2847ProfsTer29) c.9632_9633dup (p.Lys3212ProfsTer?) c.4721_4722dup (p.Lys1575ProfsTer29) c.4274_4275dup (p.Lys1426ProfsTer29) c.3611_3612dup (p.Lys1205ProfsTer29) c.8126_8127dup (p.Lys2710ProfsTer29) | |
5 | g.13770830G>A | CA359204518 | DNAH5 | c.9524C>T (p.Pro3175Leu) c.9479C>T (p.Pro3160Leu) n.236C>T c.9632C>T (p.Pro3211Leu) c.8537C>T (p.Pro2846Leu) c.4721C>T (p.Pro1574Leu) c.4274C>T (p.Pro1425Leu) c.3611C>T (p.Pro1204Leu) c.8126C>T (p.Pro2709Leu) | |
5 | g.13770830G>C | CA359204521 | DNAH5 | c.9524C>G (p.Pro3175Arg) c.9479C>G (p.Pro3160Arg) n.236C>G c.9632C>G (p.Pro3211Arg) c.8537C>G (p.Pro2846Arg) c.4721C>G (p.Pro1574Arg) c.4274C>G (p.Pro1425Arg) c.3611C>G (p.Pro1204Arg) c.8126C>G (p.Pro2709Arg) | |
5 | g.13770830G>T | CA359204523 | DNAH5 | c.9524C>A (p.Pro3175His) c.9479C>A (p.Pro3160His) n.236C>A c.9632C>A (p.Pro3211His) c.8537C>A (p.Pro2846His) c.4721C>A (p.Pro1574His) c.4274C>A (p.Pro1425His) c.3611C>A (p.Pro1204His) c.8126C>A (p.Pro2709His) | |
5 | g.13770831G>A | CA359204531 | DNAH5 | c.9523C>T (p.Pro3175Ser) c.9478C>T (p.Pro3160Ser) n.235C>T c.9631C>T (p.Pro3211Ser) c.8536C>T (p.Pro2846Ser) c.4720C>T (p.Pro1574Ser) c.4273C>T (p.Pro1425Ser) c.3610C>T (p.Pro1204Ser) c.8125C>T (p.Pro2709Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770831G>C | CA359204525 | DNAH5 | c.9523C>G (p.Pro3175Ala) c.9478C>G (p.Pro3160Ala) n.235C>G c.9631C>G (p.Pro3211Ala) c.8536C>G (p.Pro2846Ala) c.4720C>G (p.Pro1574Ala) c.4273C>G (p.Pro1425Ala) c.3610C>G (p.Pro1204Ala) c.8125C>G (p.Pro2709Ala) | |
5 | g.13770831G= | CA1528431202 | DNAH5 | c.9523C= (p.Pro3175=) c.9478C= (p.Pro3160=) n.235C= c.9631C= (p.Pro3211=) c.8536C= (p.Pro2846=) c.4720C= (p.Pro1574=) c.4273C= (p.Pro1425=) c.3610C= (p.Pro1204=) c.8125C= (p.Pro2709=) | |
5 | g.13770831G>T | CA359204528 | DNAH5 | c.9523C>A (p.Pro3175Thr) c.9478C>A (p.Pro3160Thr) n.235C>A c.9631C>A (p.Pro3211Thr) c.8536C>A (p.Pro2846Thr) c.4720C>A (p.Pro1574Thr) c.4273C>A (p.Pro1425Thr) c.3610C>A (p.Pro1204Thr) c.8125C>A (p.Pro2709Thr) | gnomAD v4 |
5 | g.13770832C>A | CA443535573 | DNAH5 | c.9522G>T (p.Thr3174=) c.9477G>T (p.Thr3159=) n.234G>T c.9630G>T (p.Thr3210=) c.8535G>T (p.Thr2845=) c.4719G>T (p.Thr1573=) c.4272G>T (p.Thr1424=) c.3609G>T (p.Thr1203=) c.8124G>T (p.Thr2708=) | ClinVar dbSNP gnomAD v4 |
5 | g.13770832C= | CA1528431203 | DNAH5 | c.9522G= (p.Thr3174=) c.9477G= (p.Thr3159=) n.234G= c.9630G= (p.Thr3210=) c.8535G= (p.Thr2845=) c.4719G= (p.Thr1573=) c.4272G= (p.Thr1424=) c.3609G= (p.Thr1203=) c.8124G= (p.Thr2708=) | |
5 | g.13770832C>G | CA443535574 | DNAH5 | c.9522G>C (p.Thr3174=) c.9477G>C (p.Thr3159=) n.234G>C c.9630G>C (p.Thr3210=) c.8535G>C (p.Thr2845=) c.4719G>C (p.Thr1573=) c.4272G>C (p.Thr1424=) c.3609G>C (p.Thr1203=) c.8124G>C (p.Thr2708=) | |
5 | g.13770832C>T | CA3202526 | DNAH5 | c.9522G>A (p.Thr3174=) c.9477G>A (p.Thr3159=) n.234G>A c.9630G>A (p.Thr3210=) c.8535G>A (p.Thr2845=) c.4719G>A (p.Thr1573=) c.4272G>A (p.Thr1424=) c.3609G>A (p.Thr1203=) c.8124G>A (p.Thr2708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770833G>A | CA3202527 | DNAH5 | c.9521C>T (p.Thr3174Met) c.9476C>T (p.Thr3159Met) n.233C>T c.9629C>T (p.Thr3210Met) c.8534C>T (p.Thr2845Met) c.4718C>T (p.Thr1573Met) c.4271C>T (p.Thr1424Met) c.3608C>T (p.Thr1203Met) c.8123C>T (p.Thr2708Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770833G>C | CA359204539 | DNAH5 | c.9521C>G (p.Thr3174Arg) c.9476C>G (p.Thr3159Arg) n.233C>G c.9629C>G (p.Thr3210Arg) c.8534C>G (p.Thr2845Arg) c.4718C>G (p.Thr1573Arg) c.4271C>G (p.Thr1424Arg) c.3608C>G (p.Thr1203Arg) c.8123C>G (p.Thr2708Arg) | |
5 | g.13770833G= | CA1528431204 | DNAH5 | c.9521C= (p.Thr3174=) c.9476C= (p.Thr3159=) n.233C= c.9629C= (p.Thr3210=) c.8534C= (p.Thr2845=) c.4718C= (p.Thr1573=) c.4271C= (p.Thr1424=) c.3608C= (p.Thr1203=) c.8123C= (p.Thr2708=) | |
5 | g.13770833G>T | CA359204541 | DNAH5 | c.9521C>A (p.Thr3174Lys) c.9476C>A (p.Thr3159Lys) n.233C>A c.9629C>A (p.Thr3210Lys) c.8534C>A (p.Thr2845Lys) c.4718C>A (p.Thr1573Lys) c.4271C>A (p.Thr1424Lys) c.3608C>A (p.Thr1203Lys) c.8123C>A (p.Thr2708Lys) | |
5 | g.13770834T>A | CA359204543 | DNAH5 | c.9520A>T (p.Thr3174Ser) c.9475A>T (p.Thr3159Ser) n.232A>T c.9628A>T (p.Thr3210Ser) c.8533A>T (p.Thr2845Ser) c.4717A>T (p.Thr1573Ser) c.4270A>T (p.Thr1424Ser) c.3607A>T (p.Thr1203Ser) c.8122A>T (p.Thr2708Ser) | |
5 | g.13770834T>C | CA359204544 | DNAH5 | c.9520A>G (p.Thr3174Ala) c.9475A>G (p.Thr3159Ala) n.232A>G c.9628A>G (p.Thr3210Ala) c.8533A>G (p.Thr2845Ala) c.4717A>G (p.Thr1573Ala) c.4270A>G (p.Thr1424Ala) c.3607A>G (p.Thr1203Ala) c.8122A>G (p.Thr2708Ala) | |
5 | g.13770834T>G | CA359204546 | DNAH5 | c.9520A>C (p.Thr3174Pro) c.9475A>C (p.Thr3159Pro) n.232A>C c.9628A>C (p.Thr3210Pro) c.8533A>C (p.Thr2845Pro) c.4717A>C (p.Thr1573Pro) c.4270A>C (p.Thr1424Pro) c.3607A>C (p.Thr1203Pro) c.8122A>C (p.Thr2708Pro) | |
5 | g.13770835del | CA2673268302 | DNAH5 | c.9519del (p.Thr3174ArgfsTer?) c.9474del (p.Thr3159ArgfsTer?) n.231del c.9627del (p.Thr3210ArgfsTer?) c.8532del (p.Thr2845ArgfsTer?) c.4716del (p.Thr1573ArgfsTer?) c.4269del (p.Thr1424ArgfsTer?) c.3606del (p.Thr1203ArgfsTer?) c.8121del (p.Thr2708ArgfsTer?) | gnomAD v4 |
5 | g.13770835C>A | CA443535575 | DNAH5 | c.9519G>T (p.Val3173=) c.9474G>T (p.Val3158=) n.231G>T c.9627G>T (p.Val3209=) c.8532G>T (p.Val2844=) c.4716G>T (p.Val1572=) c.4269G>T (p.Val1423=) c.3606G>T (p.Val1202=) c.8121G>T (p.Val2707=) | |
5 | g.13770835C>G | CA443535576 | DNAH5 | c.9519G>C (p.Val3173=) c.9474G>C (p.Val3158=) n.231G>C c.9627G>C (p.Val3209=) c.8532G>C (p.Val2844=) c.4716G>C (p.Val1572=) c.4269G>C (p.Val1423=) c.3606G>C (p.Val1202=) c.8121G>C (p.Val2707=) | |
5 | g.13770835C>T | CA443535577 | DNAH5 | c.9519G>A (p.Val3173=) c.9474G>A (p.Val3158=) n.231G>A c.9627G>A (p.Val3209=) c.8532G>A (p.Val2844=) c.4716G>A (p.Val1572=) c.4269G>A (p.Val1423=) c.3606G>A (p.Val1202=) c.8121G>A (p.Val2707=) | gnomAD v4 |
5 | g.13770836A>C | CA359204549 | DNAH5 | c.9518T>G (p.Val3173Gly) c.9473T>G (p.Val3158Gly) n.230T>G c.9626T>G (p.Val3209Gly) c.8531T>G (p.Val2844Gly) c.4715T>G (p.Val1572Gly) c.4268T>G (p.Val1423Gly) c.3605T>G (p.Val1202Gly) c.8120T>G (p.Val2707Gly) | |
5 | g.13770836A>G | CA359204551 | DNAH5 | c.9518T>C (p.Val3173Ala) c.9473T>C (p.Val3158Ala) n.230T>C c.9626T>C (p.Val3209Ala) c.8531T>C (p.Val2844Ala) c.4715T>C (p.Val1572Ala) c.4268T>C (p.Val1423Ala) c.3605T>C (p.Val1202Ala) c.8120T>C (p.Val2707Ala) | |
5 | g.13770836A>T | CA359204554 | DNAH5 | c.9518T>A (p.Val3173Glu) c.9473T>A (p.Val3158Glu) n.230T>A c.9626T>A (p.Val3209Glu) c.8531T>A (p.Val2844Glu) c.4715T>A (p.Val1572Glu) c.4268T>A (p.Val1423Glu) c.3605T>A (p.Val1202Glu) c.8120T>A (p.Val2707Glu) | gnomAD v4 |
5 | g.13770837C>A | CA113932931 | DNAH5 | c.9517G>T (p.Val3173Leu) c.9472G>T (p.Val3158Leu) n.229G>T c.9625G>T (p.Val3209Leu) c.8530G>T (p.Val2844Leu) c.4714G>T (p.Val1572Leu) c.4267G>T (p.Val1423Leu) c.3604G>T (p.Val1202Leu) c.8119G>T (p.Val2707Leu) | dbSNP gnomAD v4 |
5 | g.13770837C= | CA1528431205 | DNAH5 | c.9517G= (p.Val3173=) c.9472G= (p.Val3158=) n.229G= c.9625G= (p.Val3209=) c.8530G= (p.Val2844=) c.4714G= (p.Val1572=) c.4267G= (p.Val1423=) c.3604G= (p.Val1202=) c.8119G= (p.Val2707=) | |
5 | g.13770837C>G | CA359204560 | DNAH5 | c.9517G>C (p.Val3173Leu) c.9472G>C (p.Val3158Leu) n.229G>C c.9625G>C (p.Val3209Leu) c.8530G>C (p.Val2844Leu) c.4714G>C (p.Val1572Leu) c.4267G>C (p.Val1423Leu) c.3604G>C (p.Val1202Leu) c.8119G>C (p.Val2707Leu) | |
5 | g.13770837C>T | CA3202528 | DNAH5 | c.9517G>A (p.Val3173Met) c.9472G>A (p.Val3158Met) n.229G>A c.9625G>A (p.Val3209Met) c.8530G>A (p.Val2844Met) c.4714G>A (p.Val1572Met) c.4267G>A (p.Val1423Met) c.3604G>A (p.Val1202Met) c.8119G>A (p.Val2707Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770838G>A | CA443535579 | DNAH5 | c.9516C>T (p.His3172=) c.9471C>T (p.His3157=) n.228C>T c.9624C>T (p.His3208=) c.8529C>T (p.His2843=) c.4713C>T (p.His1571=) c.4266C>T (p.His1422=) c.3603C>T (p.His1201=) c.8118C>T (p.His2706=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770838G>C | CA359204562 | DNAH5 | c.9516C>G (p.His3172Gln) c.9471C>G (p.His3157Gln) n.228C>G c.9624C>G (p.His3208Gln) c.8529C>G (p.His2843Gln) c.4713C>G (p.His1571Gln) c.4266C>G (p.His1422Gln) c.3603C>G (p.His1201Gln) c.8118C>G (p.His2706Gln) | |
5 | g.13770838G= | CA1528431206 | DNAH5 | c.9516C= (p.His3172=) c.9471C= (p.His3157=) n.228C= c.9624C= (p.His3208=) c.8529C= (p.His2843=) c.4713C= (p.His1571=) c.4266C= (p.His1422=) c.3603C= (p.His1201=) c.8118C= (p.His2706=) | |
5 | g.13770838G>T | CA359204565 | DNAH5 | c.9516C>A (p.His3172Gln) c.9471C>A (p.His3157Gln) n.228C>A c.9624C>A (p.His3208Gln) c.8529C>A (p.His2843Gln) c.4713C>A (p.His1571Gln) c.4266C>A (p.His1422Gln) c.3603C>A (p.His1201Gln) c.8118C>A (p.His2706Gln) | |
5 | g.13770839T>A | CA359204568 | DNAH5 | c.9515A>T (p.His3172Leu) c.9470A>T (p.His3157Leu) n.227A>T c.9623A>T (p.His3208Leu) c.8528A>T (p.His2843Leu) c.4712A>T (p.His1571Leu) c.4265A>T (p.His1422Leu) c.3602A>T (p.His1201Leu) c.8117A>T (p.His2706Leu) | |
5 | g.13770839T>C | CA359204570 | DNAH5 | c.9515A>G (p.His3172Arg) c.9470A>G (p.His3157Arg) n.227A>G c.9623A>G (p.His3208Arg) c.8528A>G (p.His2843Arg) c.4712A>G (p.His1571Arg) c.4265A>G (p.His1422Arg) c.3602A>G (p.His1201Arg) c.8117A>G (p.His2706Arg) | |
5 | g.13770839T>G | CA3202529 | DNAH5 | c.9515A>C (p.His3172Pro) c.9470A>C (p.His3157Pro) n.227A>C c.9623A>C (p.His3208Pro) c.8528A>C (p.His2843Pro) c.4712A>C (p.His1571Pro) c.4265A>C (p.His1422Pro) c.3602A>C (p.His1201Pro) c.8117A>C (p.His2706Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770839T= | CA1528431207 | DNAH5 | c.9515A= (p.His3172=) c.9470A= (p.His3157=) n.227A= c.9623A= (p.His3208=) c.8528A= (p.His2843=) c.4712A= (p.His1571=) c.4265A= (p.His1422=) c.3602A= (p.His1201=) c.8117A= (p.His2706=) | |
5 | g.13770840G>A | CA359204578 | DNAH5 | c.9514C>T (p.His3172Tyr) c.9469C>T (p.His3157Tyr) n.226C>T c.9622C>T (p.His3208Tyr) c.8527C>T (p.His2843Tyr) c.4711C>T (p.His1571Tyr) c.4264C>T (p.His1422Tyr) c.3601C>T (p.His1201Tyr) c.8116C>T (p.His2706Tyr) | |
5 | g.13770840G>C | CA3202530 | DNAH5 | c.9514C>G (p.His3172Asp) c.9469C>G (p.His3157Asp) n.226C>G c.9622C>G (p.His3208Asp) c.8527C>G (p.His2843Asp) c.4711C>G (p.His1571Asp) c.4264C>G (p.His1422Asp) c.3601C>G (p.His1201Asp) c.8116C>G (p.His2706Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770840G= | CA1528431208 | DNAH5 | c.9514C= (p.His3172=) c.9469C= (p.His3157=) n.226C= c.9622C= (p.His3208=) c.8527C= (p.His2843=) c.4711C= (p.His1571=) c.4264C= (p.His1422=) c.3601C= (p.His1201=) c.8116C= (p.His2706=) | |
5 | g.13770840G>T | CA359204574 | DNAH5 | c.9514C>A (p.His3172Asn) c.9469C>A (p.His3157Asn) n.226C>A c.9622C>A (p.His3208Asn) c.8527C>A (p.His2843Asn) c.4711C>A (p.His1571Asn) c.4264C>A (p.His1422Asn) c.3601C>A (p.His1201Asn) c.8116C>A (p.His2706Asn) | |
5 | g.13770842dup | CA557876482 | DNAH5 | c.9514dup (p.His3172ProfsTer15) c.9469dup (p.His3157ProfsTer15) n.226dup c.9622dup (p.His3208ProfsTer15) c.8527dup (p.His2843ProfsTer15) c.4711dup (p.His1571ProfsTer15) c.4264dup (p.His1422ProfsTer15) c.3601dup (p.His1201ProfsTer15) c.8116dup (p.His2706ProfsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770841G>A | CA443535581 | DNAH5 | c.9513C>T (p.Thr3171=) c.9468C>T (p.Thr3156=) n.225C>T c.9621C>T (p.Thr3207=) c.8526C>T (p.Thr2842=) c.4710C>T (p.Thr1570=) c.4263C>T (p.Thr1421=) c.3600C>T (p.Thr1200=) c.8115C>T (p.Thr2705=) | |
5 | g.13770841G>C | CA443535583 | DNAH5 | c.9513C>G (p.Thr3171=) c.9468C>G (p.Thr3156=) n.225C>G c.9621C>G (p.Thr3207=) c.8526C>G (p.Thr2842=) c.4710C>G (p.Thr1570=) c.4263C>G (p.Thr1421=) c.3600C>G (p.Thr1200=) c.8115C>G (p.Thr2705=) | |
5 | g.13770841G>T | CA443535582 | DNAH5 | c.9513C>A (p.Thr3171=) c.9468C>A (p.Thr3156=) n.225C>A c.9621C>A (p.Thr3207=) c.8526C>A (p.Thr2842=) c.4710C>A (p.Thr1570=) c.4263C>A (p.Thr1421=) c.3600C>A (p.Thr1200=) c.8115C>A (p.Thr2705=) | |
5 | g.13770842G>A | CA359204580 | DNAH5 | c.9512C>T (p.Thr3171Ile) c.9467C>T (p.Thr3156Ile) n.224C>T c.9620C>T (p.Thr3207Ile) c.8525C>T (p.Thr2842Ile) c.4709C>T (p.Thr1570Ile) c.4262C>T (p.Thr1421Ile) c.3599C>T (p.Thr1200Ile) c.8114C>T (p.Thr2705Ile) | gnomAD v4 |
5 | g.13770842G>C | CA359204582 | DNAH5 | c.9512C>G (p.Thr3171Ser) c.9467C>G (p.Thr3156Ser) n.224C>G c.9620C>G (p.Thr3207Ser) c.8525C>G (p.Thr2842Ser) c.4709C>G (p.Thr1570Ser) c.4262C>G (p.Thr1421Ser) c.3599C>G (p.Thr1200Ser) c.8114C>G (p.Thr2705Ser) | |
5 | g.13770842G>T | CA359204583 | DNAH5 | c.9512C>A (p.Thr3171Asn) c.9467C>A (p.Thr3156Asn) n.224C>A c.9620C>A (p.Thr3207Asn) c.8525C>A (p.Thr2842Asn) c.4709C>A (p.Thr1570Asn) c.4262C>A (p.Thr1421Asn) c.3599C>A (p.Thr1200Asn) c.8114C>A (p.Thr2705Asn) | |
5 | g.13770843T>A | CA3202531 | DNAH5 | c.9511A>T (p.Thr3171Ser) c.9466A>T (p.Thr3156Ser) n.223A>T c.9619A>T (p.Thr3207Ser) c.8524A>T (p.Thr2842Ser) c.4708A>T (p.Thr1570Ser) c.4261A>T (p.Thr1421Ser) c.3598A>T (p.Thr1200Ser) c.8113A>T (p.Thr2705Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770843T>C | CA3202532 | DNAH5 | c.9511A>G (p.Thr3171Ala) c.9466A>G (p.Thr3156Ala) n.223A>G c.9619A>G (p.Thr3207Ala) c.8524A>G (p.Thr2842Ala) c.4708A>G (p.Thr1570Ala) c.4261A>G (p.Thr1421Ala) c.3598A>G (p.Thr1200Ala) c.8113A>G (p.Thr2705Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770843T>G | CA359204589 | DNAH5 | c.9511A>C (p.Thr3171Pro) c.9466A>C (p.Thr3156Pro) n.223A>C c.9619A>C (p.Thr3207Pro) c.8524A>C (p.Thr2842Pro) c.4708A>C (p.Thr1570Pro) c.4261A>C (p.Thr1421Pro) c.3598A>C (p.Thr1200Pro) c.8113A>C (p.Thr2705Pro) | ClinVar dbSNP |
5 | g.13770843T= | CA1528431209 | DNAH5 | c.9511A= (p.Thr3171=) c.9466A= (p.Thr3156=) n.223A= c.9619A= (p.Thr3207=) c.8524A= (p.Thr2842=) c.4708A= (p.Thr1570=) c.4261A= (p.Thr1421=) c.3598A= (p.Thr1200=) c.8113A= (p.Thr2705=) | |
5 | g.13770844A>C | CA443535584 | DNAH5 | c.9510T>G (p.Ser3170=) c.9465T>G (p.Ser3155=) n.222T>G c.9618T>G (p.Ser3206=) c.8523T>G (p.Ser2841=) c.4707T>G (p.Ser1569=) c.4260T>G (p.Ser1420=) c.3597T>G (p.Ser1199=) c.8112T>G (p.Ser2704=) | |
5 | g.13770844A>G | CA443535585 | DNAH5 | c.9510T>C (p.Ser3170=) c.9465T>C (p.Ser3155=) n.222T>C c.9618T>C (p.Ser3206=) c.8523T>C (p.Ser2841=) c.4707T>C (p.Ser1569=) c.4260T>C (p.Ser1420=) c.3597T>C (p.Ser1199=) c.8112T>C (p.Ser2704=) | |
5 | g.13770844A>T | CA443535586 | DNAH5 | c.9510T>A (p.Ser3170=) c.9465T>A (p.Ser3155=) n.222T>A c.9618T>A (p.Ser3206=) c.8523T>A (p.Ser2841=) c.4707T>A (p.Ser1569=) c.4260T>A (p.Ser1420=) c.3597T>A (p.Ser1199=) c.8112T>A (p.Ser2704=) | |
5 | g.13770845G>A | CA359204592 | DNAH5 | c.9509C>T (p.Ser3170Phe) c.9464C>T (p.Ser3155Phe) n.221C>T c.9617C>T (p.Ser3206Phe) c.8522C>T (p.Ser2841Phe) c.4706C>T (p.Ser1569Phe) c.4259C>T (p.Ser1420Phe) c.3596C>T (p.Ser1199Phe) c.8111C>T (p.Ser2704Phe) | |
5 | g.13770845G>C | CA359204596 | DNAH5 | c.9509C>G (p.Ser3170Cys) c.9464C>G (p.Ser3155Cys) n.221C>G c.9617C>G (p.Ser3206Cys) c.8522C>G (p.Ser2841Cys) c.4706C>G (p.Ser1569Cys) c.4259C>G (p.Ser1420Cys) c.3596C>G (p.Ser1199Cys) c.8111C>G (p.Ser2704Cys) | |
5 | g.13770845G>T | CA359204594 | DNAH5 | c.9509C>A (p.Ser3170Tyr) c.9464C>A (p.Ser3155Tyr) n.221C>A c.9617C>A (p.Ser3206Tyr) c.8522C>A (p.Ser2841Tyr) c.4706C>A (p.Ser1569Tyr) c.4259C>A (p.Ser1420Tyr) c.3596C>A (p.Ser1199Tyr) c.8111C>A (p.Ser2704Tyr) | |
5 | g.13770846A>C | CA359204597 | DNAH5 | c.9508T>G (p.Ser3170Ala) c.9463T>G (p.Ser3155Ala) n.220T>G c.9616T>G (p.Ser3206Ala) c.8521T>G (p.Ser2841Ala) c.4705T>G (p.Ser1569Ala) c.4258T>G (p.Ser1420Ala) c.3595T>G (p.Ser1199Ala) c.8110T>G (p.Ser2704Ala) | |
5 | g.13770846A>G | CA359204600 | DNAH5 | c.9508T>C (p.Ser3170Pro) c.9463T>C (p.Ser3155Pro) n.220T>C c.9616T>C (p.Ser3206Pro) c.8521T>C (p.Ser2841Pro) c.4705T>C (p.Ser1569Pro) c.4258T>C (p.Ser1420Pro) c.3595T>C (p.Ser1199Pro) c.8110T>C (p.Ser2704Pro) | |
5 | g.13770846A>T | CA359204602 | DNAH5 | c.9508T>A (p.Ser3170Thr) c.9463T>A (p.Ser3155Thr) n.220T>A c.9616T>A (p.Ser3206Thr) c.8521T>A (p.Ser2841Thr) c.4705T>A (p.Ser1569Thr) c.4258T>A (p.Ser1420Thr) c.3595T>A (p.Ser1199Thr) c.8110T>A (p.Ser2704Thr) | |
5 | g.13770847A>C | CA443535589 | DNAH5 | c.9507T>G (p.Arg3169=) c.9462T>G (p.Arg3154=) n.219T>G c.9615T>G (p.Arg3205=) c.8520T>G (p.Arg2840=) c.4704T>G (p.Arg1568=) c.4257T>G (p.Arg1419=) c.3594T>G (p.Arg1198=) c.8109T>G (p.Arg2703=) | |
5 | g.13770847A>G | CA443535590 | DNAH5 | c.9507T>C (p.Arg3169=) c.9462T>C (p.Arg3154=) n.219T>C c.9615T>C (p.Arg3205=) c.8520T>C (p.Arg2840=) c.4704T>C (p.Arg1568=) c.4257T>C (p.Arg1419=) c.3594T>C (p.Arg1198=) c.8109T>C (p.Arg2703=) | |
5 | g.13770847A>T | CA443535591 | DNAH5 | c.9507T>A (p.Arg3169=) c.9462T>A (p.Arg3154=) n.219T>A c.9615T>A (p.Arg3205=) c.8520T>A (p.Arg2840=) c.4704T>A (p.Arg1568=) c.4257T>A (p.Arg1419=) c.3594T>A (p.Arg1198=) c.8109T>A (p.Arg2703=) | |
5 | g.13770848C>A | CA359204604 | DNAH5 | c.9506G>T (p.Arg3169Leu) c.9461G>T (p.Arg3154Leu) n.218G>T c.9614G>T (p.Arg3205Leu) c.8519G>T (p.Arg2840Leu) c.4703G>T (p.Arg1568Leu) c.4256G>T (p.Arg1419Leu) c.3593G>T (p.Arg1198Leu) c.8108G>T (p.Arg2703Leu) | |
5 | g.13770848C= | CA1528431210 | DNAH5 | c.9506G= (p.Arg3169=) c.9461G= (p.Arg3154=) n.218G= c.9614G= (p.Arg3205=) c.8519G= (p.Arg2840=) c.4703G= (p.Arg1568=) c.4256G= (p.Arg1419=) c.3593G= (p.Arg1198=) c.8108G= (p.Arg2703=) | |
5 | g.13770848C>G | CA359204606 | DNAH5 | c.9506G>C (p.Arg3169Pro) c.9461G>C (p.Arg3154Pro) n.218G>C c.9614G>C (p.Arg3205Pro) c.8519G>C (p.Arg2840Pro) c.4703G>C (p.Arg1568Pro) c.4256G>C (p.Arg1419Pro) c.3593G>C (p.Arg1198Pro) c.8108G>C (p.Arg2703Pro) | |
5 | g.13770848C>T | CA359204608 | DNAH5 | c.9506G>A (p.Arg3169His) c.9461G>A (p.Arg3154His) n.218G>A c.9614G>A (p.Arg3205His) c.8519G>A (p.Arg2840His) c.4703G>A (p.Arg1568His) c.4256G>A (p.Arg1419His) c.3593G>A (p.Arg1198His) c.8108G>A (p.Arg2703His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770849G>A | CA3202533 | DNAH5 | c.9505C>T (p.Arg3169Cys) c.9460C>T (p.Arg3154Cys) n.217C>T c.9613C>T (p.Arg3205Cys) c.8518C>T (p.Arg2840Cys) c.4702C>T (p.Arg1568Cys) c.4255C>T (p.Arg1419Cys) c.3592C>T (p.Arg1198Cys) c.8107C>T (p.Arg2703Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770849G>C | CA359204611 | DNAH5 | c.9505C>G (p.Arg3169Gly) c.9460C>G (p.Arg3154Gly) n.217C>G c.9613C>G (p.Arg3205Gly) c.8518C>G (p.Arg2840Gly) c.4702C>G (p.Arg1568Gly) c.4255C>G (p.Arg1419Gly) c.3592C>G (p.Arg1198Gly) c.8107C>G (p.Arg2703Gly) | |
5 | g.13770849G= | CA1528431211 | DNAH5 | c.9505C= (p.Arg3169=) c.9460C= (p.Arg3154=) n.217C= c.9613C= (p.Arg3205=) c.8518C= (p.Arg2840=) c.4702C= (p.Arg1568=) c.4255C= (p.Arg1419=) c.3592C= (p.Arg1198=) c.8107C= (p.Arg2703=) | |
5 | g.13770849G>T | CA3202534 | DNAH5 | c.9505C>A (p.Arg3169Ser) c.9460C>A (p.Arg3154Ser) n.217C>A c.9613C>A (p.Arg3205Ser) c.8518C>A (p.Arg2840Ser) c.4702C>A (p.Arg1568Ser) c.4255C>A (p.Arg1419Ser) c.3592C>A (p.Arg1198Ser) c.8107C>A (p.Arg2703Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770850T>A | CA443535597 | DNAH5 | c.9504A>T (p.Arg3168=) c.9459A>T (p.Arg3153=) n.216A>T c.9612A>T (p.Arg3204=) c.8517A>T (p.Arg2839=) c.4701A>T (p.Arg1567=) c.4254A>T (p.Arg1418=) c.3591A>T (p.Arg1197=) c.8106A>T (p.Arg2702=) | |
5 | g.13770850T>C | CA443535598 | DNAH5 | c.9504A>G (p.Arg3168=) c.9459A>G (p.Arg3153=) n.216A>G c.9612A>G (p.Arg3204=) c.8517A>G (p.Arg2839=) c.4701A>G (p.Arg1567=) c.4254A>G (p.Arg1418=) c.3591A>G (p.Arg1197=) c.8106A>G (p.Arg2702=) | gnomAD v4 |
5 | g.13770850T>G | CA443535599 | DNAH5 | c.9504A>C (p.Arg3168=) c.9459A>C (p.Arg3153=) n.216A>C c.9612A>C (p.Arg3204=) c.8517A>C (p.Arg2839=) c.4701A>C (p.Arg1567=) c.4254A>C (p.Arg1418=) c.3591A>C (p.Arg1197=) c.8106A>C (p.Arg2702=) | |
5 | g.13770851C>A | CA359204615 | DNAH5 | c.9503G>T (p.Arg3168Leu) c.9458G>T (p.Arg3153Leu) n.215G>T c.9611G>T (p.Arg3204Leu) c.8516G>T (p.Arg2839Leu) c.4700G>T (p.Arg1567Leu) c.4253G>T (p.Arg1418Leu) c.3590G>T (p.Arg1197Leu) c.8105G>T (p.Arg2702Leu) | |
5 | g.13770851C= | CA1528431212 | DNAH5 | c.9503G= (p.Arg3168=) c.9458G= (p.Arg3153=) n.215G= c.9611G= (p.Arg3204=) c.8516G= (p.Arg2839=) c.4700G= (p.Arg1567=) c.4253G= (p.Arg1418=) c.3590G= (p.Arg1197=) c.8105G= (p.Arg2702=) | |
5 | g.13770851C>G | CA359204617 | DNAH5 | c.9503G>C (p.Arg3168Pro) c.9458G>C (p.Arg3153Pro) n.215G>C c.9611G>C (p.Arg3204Pro) c.8516G>C (p.Arg2839Pro) c.4700G>C (p.Arg1567Pro) c.4253G>C (p.Arg1418Pro) c.3590G>C (p.Arg1197Pro) c.8105G>C (p.Arg2702Pro) | COSMIC |
5 | g.13770851C>T | CA3202535 | DNAH5 | c.9503G>A (p.Arg3168Gln) c.9458G>A (p.Arg3153Gln) n.215G>A c.9611G>A (p.Arg3204Gln) c.8516G>A (p.Arg2839Gln) c.4700G>A (p.Arg1567Gln) c.4253G>A (p.Arg1418Gln) c.3590G>A (p.Arg1197Gln) c.8105G>A (p.Arg2702Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770852G>A | CA338247 | DNAH5 | c.9502C>T (p.Arg3168Ter) c.9457C>T (p.Arg3153Ter) n.214C>T c.9610C>T (p.Arg3204Ter) c.8515C>T (p.Arg2839Ter) c.4699C>T (p.Arg1567Ter) c.4252C>T (p.Arg1418Ter) c.3589C>T (p.Arg1197Ter) c.8104C>T (p.Arg2702Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770852G>C | CA359204618 | DNAH5 | c.9502C>G (p.Arg3168Gly) c.9457C>G (p.Arg3153Gly) n.214C>G c.9610C>G (p.Arg3204Gly) c.8515C>G (p.Arg2839Gly) c.4699C>G (p.Arg1567Gly) c.4252C>G (p.Arg1418Gly) c.3589C>G (p.Arg1197Gly) c.8104C>G (p.Arg2702Gly) | |
5 | g.13770852G= | CA1528431213 | DNAH5 | c.9502C= (p.Arg3168=) c.9457C= (p.Arg3153=) n.214C= c.9610C= (p.Arg3204=) c.8515C= (p.Arg2839=) c.4699C= (p.Arg1567=) c.4252C= (p.Arg1418=) c.3589C= (p.Arg1197=) c.8104C= (p.Arg2702=) | |
5 | g.13770852G>T | CA443535601 | DNAH5 | c.9502C>A (p.Arg3168=) c.9457C>A (p.Arg3153=) n.214C>A c.9610C>A (p.Arg3204=) c.8515C>A (p.Arg2839=) c.4699C>A (p.Arg1567=) c.4252C>A (p.Arg1418=) c.3589C>A (p.Arg1197=) c.8104C>A (p.Arg2702=) | |
5 | g.13770853G>A | CA443535602 | DNAH5 | c.9501C>T (p.Phe3167=) c.9456C>T (p.Phe3152=) n.213C>T c.9609C>T (p.Phe3203=) c.8514C>T (p.Phe2838=) c.4698C>T (p.Phe1566=) c.4251C>T (p.Phe1417=) c.3588C>T (p.Phe1196=) c.8103C>T (p.Phe2701=) | |
5 | g.13770853G>C | CA359204619 | DNAH5 | c.9501C>G (p.Phe3167Leu) c.9456C>G (p.Phe3152Leu) n.213C>G c.9609C>G (p.Phe3203Leu) c.8514C>G (p.Phe2838Leu) c.4698C>G (p.Phe1566Leu) c.4251C>G (p.Phe1417Leu) c.3588C>G (p.Phe1196Leu) c.8103C>G (p.Phe2701Leu) | |
5 | g.13770853G>T | CA359204621 | DNAH5 | c.9501C>A (p.Phe3167Leu) c.9456C>A (p.Phe3152Leu) n.213C>A c.9609C>A (p.Phe3203Leu) c.8514C>A (p.Phe2838Leu) c.4698C>A (p.Phe1566Leu) c.4251C>A (p.Phe1417Leu) c.3588C>A (p.Phe1196Leu) c.8103C>A (p.Phe2701Leu) | |
5 | g.13770854A>C | CA359204622 | DNAH5 | c.9500T>G (p.Phe3167Cys) c.9455T>G (p.Phe3152Cys) n.212T>G c.9608T>G (p.Phe3203Cys) c.8513T>G (p.Phe2838Cys) c.4697T>G (p.Phe1566Cys) c.4250T>G (p.Phe1417Cys) c.3587T>G (p.Phe1196Cys) c.8102T>G (p.Phe2701Cys) | |
5 | g.13770854A>G | CA359204623 | DNAH5 | c.9500T>C (p.Phe3167Ser) c.9455T>C (p.Phe3152Ser) n.212T>C c.9608T>C (p.Phe3203Ser) c.8513T>C (p.Phe2838Ser) c.4697T>C (p.Phe1566Ser) c.4250T>C (p.Phe1417Ser) c.3587T>C (p.Phe1196Ser) c.8102T>C (p.Phe2701Ser) | |
5 | g.13770854A>T | CA359204625 | DNAH5 | c.9500T>A (p.Phe3167Tyr) c.9455T>A (p.Phe3152Tyr) n.212T>A c.9608T>A (p.Phe3203Tyr) c.8513T>A (p.Phe2838Tyr) c.4697T>A (p.Phe1566Tyr) c.4250T>A (p.Phe1417Tyr) c.3587T>A (p.Phe1196Tyr) c.8102T>A (p.Phe2701Tyr) | |
5 | g.13770855A>C | CA359204628 | DNAH5 | c.9499T>G (p.Phe3167Val) c.9454T>G (p.Phe3152Val) n.211T>G c.9607T>G (p.Phe3203Val) c.8512T>G (p.Phe2838Val) c.4696T>G (p.Phe1566Val) c.4249T>G (p.Phe1417Val) c.3586T>G (p.Phe1196Val) c.8101T>G (p.Phe2701Val) | |
5 | g.13770855A>G | CA359204629 | DNAH5 | c.9499T>C (p.Phe3167Leu) c.9454T>C (p.Phe3152Leu) n.211T>C c.9607T>C (p.Phe3203Leu) c.8512T>C (p.Phe2838Leu) c.4696T>C (p.Phe1566Leu) c.4249T>C (p.Phe1417Leu) c.3586T>C (p.Phe1196Leu) c.8101T>C (p.Phe2701Leu) | |
5 | g.13770855A>T | CA359204632 | DNAH5 | c.9499T>A (p.Phe3167Ile) c.9454T>A (p.Phe3152Ile) n.211T>A c.9607T>A (p.Phe3203Ile) c.8512T>A (p.Phe2838Ile) c.4696T>A (p.Phe1566Ile) c.4249T>A (p.Phe1417Ile) c.3586T>A (p.Phe1196Ile) c.8101T>A (p.Phe2701Ile) | |
5 | g.13770856T>A | CA359204634 | DNAH5 | c.9498A>T (p.Arg3166Ser) c.9453A>T (p.Arg3151Ser) n.210A>T c.9606A>T (p.Arg3202Ser) c.8511A>T (p.Arg2837Ser) c.4695A>T (p.Arg1565Ser) c.4248A>T (p.Arg1416Ser) c.3585A>T (p.Arg1195Ser) c.8100A>T (p.Arg2700Ser) | |
5 | g.13770856T>C | CA443535607 | DNAH5 | c.9498A>G (p.Arg3166=) c.9453A>G (p.Arg3151=) n.210A>G c.9606A>G (p.Arg3202=) c.8511A>G (p.Arg2837=) c.4695A>G (p.Arg1565=) c.4248A>G (p.Arg1416=) c.3585A>G (p.Arg1195=) c.8100A>G (p.Arg2700=) | |
5 | g.13770856T>G | CA359204636 | DNAH5 | c.9498A>C (p.Arg3166Ser) c.9453A>C (p.Arg3151Ser) n.210A>C c.9606A>C (p.Arg3202Ser) c.8511A>C (p.Arg2837Ser) c.4695A>C (p.Arg1565Ser) c.4248A>C (p.Arg1416Ser) c.3585A>C (p.Arg1195Ser) c.8100A>C (p.Arg2700Ser) | |
5 | g.13770857C>A | CA359204638 | DNAH5 | c.9497G>T (p.Arg3166Ile) c.9452G>T (p.Arg3151Ile) n.209G>T c.9605G>T (p.Arg3202Ile) c.8510G>T (p.Arg2837Ile) c.4694G>T (p.Arg1565Ile) c.4247G>T (p.Arg1416Ile) c.3584G>T (p.Arg1195Ile) c.8099G>T (p.Arg2700Ile) | |
5 | g.13770857C>G | CA359204640 | DNAH5 | c.9497G>C (p.Arg3166Thr) c.9452G>C (p.Arg3151Thr) n.209G>C c.9605G>C (p.Arg3202Thr) c.8510G>C (p.Arg2837Thr) c.4694G>C (p.Arg1565Thr) c.4247G>C (p.Arg1416Thr) c.3584G>C (p.Arg1195Thr) c.8099G>C (p.Arg2700Thr) | |
5 | g.13770857C>T | CA359204643 | DNAH5 | c.9497G>A (p.Arg3166Lys) c.9452G>A (p.Arg3151Lys) n.209G>A c.9605G>A (p.Arg3202Lys) c.8510G>A (p.Arg2837Lys) c.4694G>A (p.Arg1565Lys) c.4247G>A (p.Arg1416Lys) c.3584G>A (p.Arg1195Lys) c.8099G>A (p.Arg2700Lys) | gnomAD v4 |
5 | g.13770858T>A | CA359204645 | DNAH5 | c.9496A>T (p.Arg3166Ter) c.9451A>T (p.Arg3151Ter) n.208A>T c.9604A>T (p.Arg3202Ter) c.8509A>T (p.Arg2837Ter) c.4693A>T (p.Arg1565Ter) c.4246A>T (p.Arg1416Ter) c.3583A>T (p.Arg1195Ter) c.8098A>T (p.Arg2700Ter) | |
5 | g.13770858T>C | CA359204647 | DNAH5 | c.9496A>G (p.Arg3166Gly) c.9451A>G (p.Arg3151Gly) n.208A>G c.9604A>G (p.Arg3202Gly) c.8509A>G (p.Arg2837Gly) c.4693A>G (p.Arg1565Gly) c.4246A>G (p.Arg1416Gly) c.3583A>G (p.Arg1195Gly) c.8098A>G (p.Arg2700Gly) | COSMIC |
5 | g.13770858T>G | CA443535608 | DNAH5 | c.9496A>C (p.Arg3166=) c.9451A>C (p.Arg3151=) n.208A>C c.9604A>C (p.Arg3202=) c.8509A>C (p.Arg2837=) c.4693A>C (p.Arg1565=) c.4246A>C (p.Arg1416=) c.3583A>C (p.Arg1195=) c.8098A>C (p.Arg2700=) | |
5 | g.13770859C>A | CA359204650 | DNAH5 | c.9495G>T (p.Gln3165His) c.9450G>T (p.Gln3150His) n.207G>T c.9603G>T (p.Gln3201His) c.8508G>T (p.Gln2836His) c.4692G>T (p.Gln1564His) c.4245G>T (p.Gln1415His) c.3582G>T (p.Gln1194His) c.8097G>T (p.Gln2699His) | |
5 | g.13770859C>G | CA359204652 | DNAH5 | c.9495G>C (p.Gln3165His) c.9450G>C (p.Gln3150His) n.207G>C c.9603G>C (p.Gln3201His) c.8508G>C (p.Gln2836His) c.4692G>C (p.Gln1564His) c.4245G>C (p.Gln1415His) c.3582G>C (p.Gln1194His) c.8097G>C (p.Gln2699His) | |
5 | g.13770859C>T | CA443535612 | DNAH5 | c.9495G>A (p.Gln3165=) c.9450G>A (p.Gln3150=) n.207G>A c.9603G>A (p.Gln3201=) c.8508G>A (p.Gln2836=) c.4692G>A (p.Gln1564=) c.4245G>A (p.Gln1415=) c.3582G>A (p.Gln1194=) c.8097G>A (p.Gln2699=) | |
5 | g.13770860T>A | CA359204656 | DNAH5 | c.9494A>T (p.Gln3165Leu) c.9449A>T (p.Gln3150Leu) n.206A>T c.9602A>T (p.Gln3201Leu) c.8507A>T (p.Gln2836Leu) c.4691A>T (p.Gln1564Leu) c.4244A>T (p.Gln1415Leu) c.3581A>T (p.Gln1194Leu) c.8096A>T (p.Gln2699Leu) | COSMIC |
5 | g.13770860T>C | CA359204658 | DNAH5 | c.9494A>G (p.Gln3165Arg) c.9449A>G (p.Gln3150Arg) n.206A>G c.9602A>G (p.Gln3201Arg) c.8507A>G (p.Gln2836Arg) c.4691A>G (p.Gln1564Arg) c.4244A>G (p.Gln1415Arg) c.3581A>G (p.Gln1194Arg) c.8096A>G (p.Gln2699Arg) | |
5 | g.13770860T>G | CA359204662 | DNAH5 | c.9494A>C (p.Gln3165Pro) c.9449A>C (p.Gln3150Pro) n.206A>C c.9602A>C (p.Gln3201Pro) c.8507A>C (p.Gln2836Pro) c.4691A>C (p.Gln1564Pro) c.4244A>C (p.Gln1415Pro) c.3581A>C (p.Gln1194Pro) c.8096A>C (p.Gln2699Pro) | |
5 | g.13770861G>A | CA359204667 | DNAH5 | c.9493C>T (p.Gln3165Ter) c.9448C>T (p.Gln3150Ter) n.205C>T c.9601C>T (p.Gln3201Ter) c.8506C>T (p.Gln2836Ter) c.4690C>T (p.Gln1564Ter) c.4243C>T (p.Gln1415Ter) c.3580C>T (p.Gln1194Ter) c.8095C>T (p.Gln2699Ter) | COSMIC |
5 | g.13770861G>C | CA359204670 | DNAH5 | c.9493C>G (p.Gln3165Glu) c.9448C>G (p.Gln3150Glu) n.205C>G c.9601C>G (p.Gln3201Glu) c.8506C>G (p.Gln2836Glu) c.4690C>G (p.Gln1564Glu) c.4243C>G (p.Gln1415Glu) c.3580C>G (p.Gln1194Glu) c.8095C>G (p.Gln2699Glu) | |
5 | g.13770861G>T | CA359204673 | DNAH5 | c.9493C>A (p.Gln3165Lys) c.9448C>A (p.Gln3150Lys) n.205C>A c.9601C>A (p.Gln3201Lys) c.8506C>A (p.Gln2836Lys) c.4690C>A (p.Gln1564Lys) c.4243C>A (p.Gln1415Lys) c.3580C>A (p.Gln1194Lys) c.8095C>A (p.Gln2699Lys) | |
5 | g.13770862A>C | CA359204678 | DNAH5 | c.9492T>G (p.Phe3164Leu) c.9447T>G (p.Phe3149Leu) n.204T>G c.9600T>G (p.Phe3200Leu) c.8505T>G (p.Phe2835Leu) c.4689T>G (p.Phe1563Leu) c.4242T>G (p.Phe1414Leu) c.3579T>G (p.Phe1193Leu) c.8094T>G (p.Phe2698Leu) | |
5 | g.13770862A>G | CA443535617 | DNAH5 | c.9492T>C (p.Phe3164=) c.9447T>C (p.Phe3149=) n.204T>C c.9600T>C (p.Phe3200=) c.8505T>C (p.Phe2835=) c.4689T>C (p.Phe1563=) c.4242T>C (p.Phe1414=) c.3579T>C (p.Phe1193=) c.8094T>C (p.Phe2698=) | |
5 | g.13770862A>T | CA359204681 | DNAH5 | c.9492T>A (p.Phe3164Leu) c.9447T>A (p.Phe3149Leu) n.204T>A c.9600T>A (p.Phe3200Leu) c.8505T>A (p.Phe2835Leu) c.4689T>A (p.Phe1563Leu) c.4242T>A (p.Phe1414Leu) c.3579T>A (p.Phe1193Leu) c.8094T>A (p.Phe2698Leu) | |
5 | g.13770863A>C | CA359204682 | DNAH5 | c.9491T>G (p.Phe3164Cys) c.9446T>G (p.Phe3149Cys) n.203T>G c.9599T>G (p.Phe3200Cys) c.8504T>G (p.Phe2835Cys) c.4688T>G (p.Phe1563Cys) c.4241T>G (p.Phe1414Cys) c.3578T>G (p.Phe1193Cys) c.8093T>G (p.Phe2698Cys) | |
5 | g.13770863A>G | CA359204685 | DNAH5 | c.9491T>C (p.Phe3164Ser) c.9446T>C (p.Phe3149Ser) n.203T>C c.9599T>C (p.Phe3200Ser) c.8504T>C (p.Phe2835Ser) c.4688T>C (p.Phe1563Ser) c.4241T>C (p.Phe1414Ser) c.3578T>C (p.Phe1193Ser) c.8093T>C (p.Phe2698Ser) | |
5 | g.13770863A>T | CA359204689 | DNAH5 | c.9491T>A (p.Phe3164Tyr) c.9446T>A (p.Phe3149Tyr) n.203T>A c.9599T>A (p.Phe3200Tyr) c.8504T>A (p.Phe2835Tyr) c.4688T>A (p.Phe1563Tyr) c.4241T>A (p.Phe1414Tyr) c.3578T>A (p.Phe1193Tyr) c.8093T>A (p.Phe2698Tyr) | |
5 | g.13770864A= | CA1528431214 | DNAH5 | c.9490T= (p.Phe3164=) c.9445T= (p.Phe3149=) n.202T= c.9598T= (p.Phe3200=) c.8503T= (p.Phe2835=) c.4687T= (p.Phe1563=) c.4240T= (p.Phe1414=) c.3577T= (p.Phe1193=) c.8092T= (p.Phe2698=) | |
5 | g.13770864A>C | CA3202536 | DNAH5 | c.9490T>G (p.Phe3164Val) c.9445T>G (p.Phe3149Val) n.202T>G c.9598T>G (p.Phe3200Val) c.8503T>G (p.Phe2835Val) c.4687T>G (p.Phe1563Val) c.4240T>G (p.Phe1414Val) c.3577T>G (p.Phe1193Val) c.8092T>G (p.Phe2698Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770864A>G | CA359204699 | DNAH5 | c.9490T>C (p.Phe3164Leu) c.9445T>C (p.Phe3149Leu) n.202T>C c.9598T>C (p.Phe3200Leu) c.8503T>C (p.Phe2835Leu) c.4687T>C (p.Phe1563Leu) c.4240T>C (p.Phe1414Leu) c.3577T>C (p.Phe1193Leu) c.8092T>C (p.Phe2698Leu) | |
5 | g.13770864A>T | CA359204696 | DNAH5 | c.9490T>A (p.Phe3164Ile) c.9445T>A (p.Phe3149Ile) n.202T>A c.9598T>A (p.Phe3200Ile) c.8503T>A (p.Phe2835Ile) c.4687T>A (p.Phe1563Ile) c.4240T>A (p.Phe1414Ile) c.3577T>A (p.Phe1193Ile) c.8092T>A (p.Phe2698Ile) | |
5 | g.13770865A= | CA1528431215 | DNAH5 | c.9489T= (p.Tyr3163=) c.9444T= (p.Tyr3148=) n.201T= c.9597T= (p.Tyr3199=) c.8502T= (p.Tyr2834=) c.4686T= (p.Tyr1562=) c.4239T= (p.Tyr1413=) c.3576T= (p.Tyr1192=) c.8091T= (p.Tyr2697=) | |
5 | g.13770865A>C | CA359204700 | DNAH5 | c.9489T>G (p.Tyr3163Ter) c.9444T>G (p.Tyr3148Ter) n.201T>G c.9597T>G (p.Tyr3199Ter) c.8502T>G (p.Tyr2834Ter) c.4686T>G (p.Tyr1562Ter) c.4239T>G (p.Tyr1413Ter) c.3576T>G (p.Tyr1192Ter) c.8091T>G (p.Tyr2697Ter) | ClinVar |
5 | g.13770865A>G | CA113932995 | DNAH5 | c.9489T>C (p.Tyr3163=) c.9444T>C (p.Tyr3148=) n.201T>C c.9597T>C (p.Tyr3199=) c.8502T>C (p.Tyr2834=) c.4686T>C (p.Tyr1562=) c.4239T>C (p.Tyr1413=) c.3576T>C (p.Tyr1192=) c.8091T>C (p.Tyr2697=) | ClinVar dbSNP gnomAD v4 |
5 | g.13770865A>T | CA359204703 | DNAH5 | c.9489T>A (p.Tyr3163Ter) c.9444T>A (p.Tyr3148Ter) n.201T>A c.9597T>A (p.Tyr3199Ter) c.8502T>A (p.Tyr2834Ter) c.4686T>A (p.Tyr1562Ter) c.4239T>A (p.Tyr1413Ter) c.3576T>A (p.Tyr1192Ter) c.8091T>A (p.Tyr2697Ter) | |
5 | g.13770866T>A | CA359204704 | DNAH5 | c.9488A>T (p.Tyr3163Phe) c.9443A>T (p.Tyr3148Phe) n.200A>T c.9596A>T (p.Tyr3199Phe) c.8501A>T (p.Tyr2834Phe) c.4685A>T (p.Tyr1562Phe) c.4238A>T (p.Tyr1413Phe) c.3575A>T (p.Tyr1192Phe) c.8090A>T (p.Tyr2697Phe) | |
5 | g.13770866T>C | CA359204705 | DNAH5 | c.9488A>G (p.Tyr3163Cys) c.9443A>G (p.Tyr3148Cys) n.200A>G c.9596A>G (p.Tyr3199Cys) c.8501A>G (p.Tyr2834Cys) c.4685A>G (p.Tyr1562Cys) c.4238A>G (p.Tyr1413Cys) c.3575A>G (p.Tyr1192Cys) c.8090A>G (p.Tyr2697Cys) | |
5 | g.13770866T>G | CA359204706 | DNAH5 | c.9488A>C (p.Tyr3163Ser) c.9443A>C (p.Tyr3148Ser) n.200A>C c.9596A>C (p.Tyr3199Ser) c.8501A>C (p.Tyr2834Ser) c.4685A>C (p.Tyr1562Ser) c.4238A>C (p.Tyr1413Ser) c.3575A>C (p.Tyr1192Ser) c.8090A>C (p.Tyr2697Ser) | |
5 | g.13770867A>C | CA359204710 | DNAH5 | c.9487T>G (p.Tyr3163Asp) c.9442T>G (p.Tyr3148Asp) n.199T>G c.9595T>G (p.Tyr3199Asp) c.8500T>G (p.Tyr2834Asp) c.4684T>G (p.Tyr1562Asp) c.4237T>G (p.Tyr1413Asp) c.3574T>G (p.Tyr1192Asp) c.8089T>G (p.Tyr2697Asp) | |
5 | g.13770867A>G | CA359204707 | DNAH5 | c.9487T>C (p.Tyr3163His) c.9442T>C (p.Tyr3148His) n.199T>C c.9595T>C (p.Tyr3199His) c.8500T>C (p.Tyr2834His) c.4684T>C (p.Tyr1562His) c.4237T>C (p.Tyr1413His) c.3574T>C (p.Tyr1192His) c.8089T>C (p.Tyr2697His) | gnomAD v4 |
5 | g.13770867A>T | CA359204708 | DNAH5 | c.9487T>A (p.Tyr3163Asn) c.9442T>A (p.Tyr3148Asn) n.199T>A c.9595T>A (p.Tyr3199Asn) c.8500T>A (p.Tyr2834Asn) c.4684T>A (p.Tyr1562Asn) c.4237T>A (p.Tyr1413Asn) c.3574T>A (p.Tyr1192Asn) c.8089T>A (p.Tyr2697Asn) | |
5 | g.13770869_13770872del | CA2695204135 | DNAH5 | c.9484_9487del (p.Asp3162IlefsTer11) c.9439_9442del (p.Asp3147IlefsTer11) n.196_199del c.9592_9595del (p.Asp3198IlefsTer11) c.8497_8500del (p.Asp2833IlefsTer11) c.4681_4684del (p.Asp1561IlefsTer11) c.4234_4237del (p.Asp1412IlefsTer11) c.3571_3574del (p.Asp1191IlefsTer11) c.8086_8089del (p.Asp2696IlefsTer11) | |
5 | g.13770868A>C | CA359204713 | DNAH5 | c.9486T>G (p.Asp3162Glu) c.9441T>G (p.Asp3147Glu) n.198T>G c.9594T>G (p.Asp3198Glu) c.8499T>G (p.Asp2833Glu) c.4683T>G (p.Asp1561Glu) c.4236T>G (p.Asp1412Glu) c.3573T>G (p.Asp1191Glu) c.8088T>G (p.Asp2696Glu) | |
5 | g.13770868A>G | CA443535623 | DNAH5 | c.9486T>C (p.Asp3162=) c.9441T>C (p.Asp3147=) n.198T>C c.9594T>C (p.Asp3198=) c.8499T>C (p.Asp2833=) c.4683T>C (p.Asp1561=) c.4236T>C (p.Asp1412=) c.3573T>C (p.Asp1191=) c.8088T>C (p.Asp2696=) | gnomAD v4 |
5 | g.13770868A>T | CA359204715 | DNAH5 | c.9486T>A (p.Asp3162Glu) c.9441T>A (p.Asp3147Glu) n.198T>A c.9594T>A (p.Asp3198Glu) c.8499T>A (p.Asp2833Glu) c.4683T>A (p.Asp1561Glu) c.4236T>A (p.Asp1412Glu) c.3573T>A (p.Asp1191Glu) c.8088T>A (p.Asp2696Glu) | |
5 | g.13770869T>A | CA359204718 | DNAH5 | c.9485A>T (p.Asp3162Val) c.9440A>T (p.Asp3147Val) n.197A>T c.9593A>T (p.Asp3198Val) c.8498A>T (p.Asp2833Val) c.4682A>T (p.Asp1561Val) c.4235A>T (p.Asp1412Val) c.3572A>T (p.Asp1191Val) c.8087A>T (p.Asp2696Val) | |
5 | g.13770869T>C | CA359204722 | DNAH5 | c.9485A>G (p.Asp3162Gly) c.9440A>G (p.Asp3147Gly) n.197A>G c.9593A>G (p.Asp3198Gly) c.8498A>G (p.Asp2833Gly) c.4682A>G (p.Asp1561Gly) c.4235A>G (p.Asp1412Gly) c.3572A>G (p.Asp1191Gly) c.8087A>G (p.Asp2696Gly) | |
5 | g.13770869T>G | CA359204724 | DNAH5 | c.9485A>C (p.Asp3162Ala) c.9440A>C (p.Asp3147Ala) n.197A>C c.9593A>C (p.Asp3198Ala) c.8498A>C (p.Asp2833Ala) c.4682A>C (p.Asp1561Ala) c.4235A>C (p.Asp1412Ala) c.3572A>C (p.Asp1191Ala) c.8087A>C (p.Asp2696Ala) | |
5 | g.13770870C>A | CA359204728 | DNAH5 | c.9484G>T (p.Asp3162Tyr) c.9439G>T (p.Asp3147Tyr) n.196G>T c.9592G>T (p.Asp3198Tyr) c.8497G>T (p.Asp2833Tyr) c.4681G>T (p.Asp1561Tyr) c.4234G>T (p.Asp1412Tyr) c.3571G>T (p.Asp1191Tyr) c.8086G>T (p.Asp2696Tyr) | |
5 | g.13770870C= | CA1528431216 | DNAH5 | c.9484G= (p.Asp3162=) c.9439G= (p.Asp3147=) n.196G= c.9592G= (p.Asp3198=) c.8497G= (p.Asp2833=) c.4681G= (p.Asp1561=) c.4234G= (p.Asp1412=) c.3571G= (p.Asp1191=) c.8086G= (p.Asp2696=) | |
5 | g.13770870C>G | CA359204732 | DNAH5 | c.9484G>C (p.Asp3162His) c.9439G>C (p.Asp3147His) n.196G>C c.9592G>C (p.Asp3198His) c.8497G>C (p.Asp2833His) c.4681G>C (p.Asp1561His) c.4234G>C (p.Asp1412His) c.3571G>C (p.Asp1191His) c.8086G>C (p.Asp2696His) | dbSNP gnomAD v4 |
5 | g.13770870C>T | CA359204729 | DNAH5 | c.9484G>A (p.Asp3162Asn) c.9439G>A (p.Asp3147Asn) n.196G>A c.9592G>A (p.Asp3198Asn) c.8497G>A (p.Asp2833Asn) c.4681G>A (p.Asp1561Asn) c.4234G>A (p.Asp1412Asn) c.3571G>A (p.Asp1191Asn) c.8086G>A (p.Asp2696Asn) | |
5 | g.13770871A>C | CA443535625 | DNAH5 | c.9483T>G (p.Val3161=) c.9438T>G (p.Val3146=) n.195T>G c.9591T>G (p.Val3197=) c.8496T>G (p.Val2832=) c.4680T>G (p.Val1560=) c.4233T>G (p.Val1411=) c.3570T>G (p.Val1190=) c.8085T>G (p.Val2695=) | |
5 | g.13770871A>G | CA443535627 | DNAH5 | c.9483T>C (p.Val3161=) c.9438T>C (p.Val3146=) n.195T>C c.9591T>C (p.Val3197=) c.8496T>C (p.Val2832=) c.4680T>C (p.Val1560=) c.4233T>C (p.Val1411=) c.3570T>C (p.Val1190=) c.8085T>C (p.Val2695=) | |
5 | g.13770871A>T | CA443535628 | DNAH5 | c.9483T>A (p.Val3161=) c.9438T>A (p.Val3146=) n.195T>A c.9591T>A (p.Val3197=) c.8496T>A (p.Val2832=) c.4680T>A (p.Val1560=) c.4233T>A (p.Val1411=) c.3570T>A (p.Val1190=) c.8085T>A (p.Val2695=) | |
5 | g.13770872A= | CA1528431217 | DNAH5 | c.9482T= (p.Val3161=) c.9437T= (p.Val3146=) n.194T= c.9590T= (p.Val3197=) c.8495T= (p.Val2832=) c.4679T= (p.Val1560=) c.4232T= (p.Val1411=) c.3569T= (p.Val1190=) c.8084T= (p.Val2695=) | |
5 | g.13770872A>C | CA359204736 | DNAH5 | c.9482T>G (p.Val3161Gly) c.9437T>G (p.Val3146Gly) n.194T>G c.9590T>G (p.Val3197Gly) c.8495T>G (p.Val2832Gly) c.4679T>G (p.Val1560Gly) c.4232T>G (p.Val1411Gly) c.3569T>G (p.Val1190Gly) c.8084T>G (p.Val2695Gly) | |
5 | g.13770872A>G | CA359204738 | DNAH5 | c.9482T>C (p.Val3161Ala) c.9437T>C (p.Val3146Ala) n.194T>C c.9590T>C (p.Val3197Ala) c.8495T>C (p.Val2832Ala) c.4679T>C (p.Val1560Ala) c.4232T>C (p.Val1411Ala) c.3569T>C (p.Val1190Ala) c.8084T>C (p.Val2695Ala) | dbSNP |
5 | g.13770872A>T | CA113933001 | DNAH5 | c.9482T>A (p.Val3161Asp) c.9437T>A (p.Val3146Asp) n.194T>A c.9590T>A (p.Val3197Asp) c.8495T>A (p.Val2832Asp) c.4679T>A (p.Val1560Asp) c.4232T>A (p.Val1411Asp) c.3569T>A (p.Val1190Asp) c.8084T>A (p.Val2695Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770873C>A | CA3202537 | DNAH5 | c.9481G>T (p.Val3161Phe) c.9436G>T (p.Val3146Phe) n.193G>T c.9589G>T (p.Val3197Phe) c.8494G>T (p.Val2832Phe) c.4678G>T (p.Val1560Phe) c.4231G>T (p.Val1411Phe) c.3568G>T (p.Val1190Phe) c.8083G>T (p.Val2695Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770873C= | CA1528431218 | DNAH5 | c.9481G= (p.Val3161=) c.9436G= (p.Val3146=) n.193G= c.9589G= (p.Val3197=) c.8494G= (p.Val2832=) c.4678G= (p.Val1560=) c.4231G= (p.Val1411=) c.3568G= (p.Val1190=) c.8083G= (p.Val2695=) | |
5 | g.13770873C>G | CA359204742 | DNAH5 | c.9481G>C (p.Val3161Leu) c.9436G>C (p.Val3146Leu) n.193G>C c.9589G>C (p.Val3197Leu) c.8494G>C (p.Val2832Leu) c.4678G>C (p.Val1560Leu) c.4231G>C (p.Val1411Leu) c.3568G>C (p.Val1190Leu) c.8083G>C (p.Val2695Leu) | |
5 | g.13770873C>T | CA359204744 | DNAH5 | c.9481G>A (p.Val3161Ile) c.9436G>A (p.Val3146Ile) n.193G>A c.9589G>A (p.Val3197Ile) c.8494G>A (p.Val2832Ile) c.4678G>A (p.Val1560Ile) c.4231G>A (p.Val1411Ile) c.3568G>A (p.Val1190Ile) c.8083G>A (p.Val2695Ile) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770874A= | CA1528431219 | DNAH5 | c.9480T= (p.Cys3160=) c.9435T= (p.Cys3145=) n.192T= c.9588T= (p.Cys3196=) c.8493T= (p.Cys2831=) c.4677T= (p.Cys1559=) c.4230T= (p.Cys1410=) c.3567T= (p.Cys1189=) c.8082T= (p.Cys2694=) | |
5 | g.13770874A>C | CA359204749 | DNAH5 | c.9480T>G (p.Cys3160Trp) c.9435T>G (p.Cys3145Trp) n.192T>G c.9588T>G (p.Cys3196Trp) c.8493T>G (p.Cys2831Trp) c.4677T>G (p.Cys1559Trp) c.4230T>G (p.Cys1410Trp) c.3567T>G (p.Cys1189Trp) c.8082T>G (p.Cys2694Trp) | |
5 | g.13770874A>G | CA443535630 | DNAH5 | c.9480T>C (p.Cys3160=) c.9435T>C (p.Cys3145=) n.192T>C c.9588T>C (p.Cys3196=) c.8493T>C (p.Cys2831=) c.4677T>C (p.Cys1559=) c.4230T>C (p.Cys1410=) c.3567T>C (p.Cys1189=) c.8082T>C (p.Cys2694=) | gnomAD v4 |
5 | g.13770874A>T | CA3202538 | DNAH5 | c.9480T>A (p.Cys3160Ter) c.9435T>A (p.Cys3145Ter) n.192T>A c.9588T>A (p.Cys3196Ter) c.8493T>A (p.Cys2831Ter) c.4677T>A (p.Cys1559Ter) c.4230T>A (p.Cys1410Ter) c.3567T>A (p.Cys1189Ter) c.8082T>A (p.Cys2694Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770875C>A | CA359204755 | DNAH5 | c.9479G>T (p.Cys3160Phe) c.9434G>T (p.Cys3145Phe) n.191G>T c.9587G>T (p.Cys3196Phe) c.8492G>T (p.Cys2831Phe) c.4676G>T (p.Cys1559Phe) c.4229G>T (p.Cys1410Phe) c.3566G>T (p.Cys1189Phe) c.8081G>T (p.Cys2694Phe) | |
5 | g.13770875C>G | CA359204760 | DNAH5 | c.9479G>C (p.Cys3160Ser) c.9434G>C (p.Cys3145Ser) n.191G>C c.9587G>C (p.Cys3196Ser) c.8492G>C (p.Cys2831Ser) c.4676G>C (p.Cys1559Ser) c.4229G>C (p.Cys1410Ser) c.3566G>C (p.Cys1189Ser) c.8081G>C (p.Cys2694Ser) | |
5 | g.13770875C>T | CA359204764 | DNAH5 | c.9479G>A (p.Cys3160Tyr) c.9434G>A (p.Cys3145Tyr) n.191G>A c.9587G>A (p.Cys3196Tyr) c.8492G>A (p.Cys2831Tyr) c.4676G>A (p.Cys1559Tyr) c.4229G>A (p.Cys1410Tyr) c.3566G>A (p.Cys1189Tyr) c.8081G>A (p.Cys2694Tyr) | |
5 | g.13770876A= | CA1528431220 | DNAH5 | c.9478T= (p.Cys3160=) c.9433T= (p.Cys3145=) n.190T= c.9586T= (p.Cys3196=) c.8491T= (p.Cys2831=) c.4675T= (p.Cys1559=) c.4228T= (p.Cys1410=) c.3565T= (p.Cys1189=) c.8080T= (p.Cys2694=) | |
5 | g.13770876A>C | CA359204772 | DNAH5 | c.9478T>G (p.Cys3160Gly) c.9433T>G (p.Cys3145Gly) n.190T>G c.9586T>G (p.Cys3196Gly) c.8491T>G (p.Cys2831Gly) c.4675T>G (p.Cys1559Gly) c.4228T>G (p.Cys1410Gly) c.3565T>G (p.Cys1189Gly) c.8080T>G (p.Cys2694Gly) | |
5 | g.13770876A>G | CA3202539 | DNAH5 | c.9478T>C (p.Cys3160Arg) c.9433T>C (p.Cys3145Arg) n.190T>C c.9586T>C (p.Cys3196Arg) c.8491T>C (p.Cys2831Arg) c.4675T>C (p.Cys1559Arg) c.4228T>C (p.Cys1410Arg) c.3565T>C (p.Cys1189Arg) c.8080T>C (p.Cys2694Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770876A>T | CA359204767 | DNAH5 | c.9478T>A (p.Cys3160Ser) c.9433T>A (p.Cys3145Ser) n.190T>A c.9586T>A (p.Cys3196Ser) c.8491T>A (p.Cys2831Ser) c.4675T>A (p.Cys1559Ser) c.4228T>A (p.Cys1410Ser) c.3565T>A (p.Cys1189Ser) c.8080T>A (p.Cys2694Ser) | |
5 | g.13770877C>A | CA359204786 | DNAH5 | c.9477G>T (p.Lys3159Asn) c.9432G>T (p.Lys3144Asn) n.189G>T c.9585G>T (p.Lys3195Asn) c.8490G>T (p.Lys2830Asn) c.4674G>T (p.Lys1558Asn) c.4227G>T (p.Lys1409Asn) c.3564G>T (p.Lys1188Asn) c.8079G>T (p.Lys2693Asn) | |
5 | g.13770877C= | CA1528431221 | DNAH5 | c.9477G= (p.Lys3159=) c.9432G= (p.Lys3144=) n.189G= c.9585G= (p.Lys3195=) c.8490G= (p.Lys2830=) c.4674G= (p.Lys1558=) c.4227G= (p.Lys1409=) c.3564G= (p.Lys1188=) c.8079G= (p.Lys2693=) | |
5 | g.13770877C>G | CA359204790 | DNAH5 | c.9477G>C (p.Lys3159Asn) c.9432G>C (p.Lys3144Asn) n.189G>C c.9585G>C (p.Lys3195Asn) c.8490G>C (p.Lys2830Asn) c.4674G>C (p.Lys1558Asn) c.4227G>C (p.Lys1409Asn) c.3564G>C (p.Lys1188Asn) c.8079G>C (p.Lys2693Asn) | |
5 | g.13770877C>T | CA443535640 | DNAH5 | c.9477G>A (p.Lys3159=) c.9432G>A (p.Lys3144=) n.189G>A c.9585G>A (p.Lys3195=) c.8490G>A (p.Lys2830=) c.4674G>A (p.Lys1558=) c.4227G>A (p.Lys1409=) c.3564G>A (p.Lys1188=) c.8079G>A (p.Lys2693=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770878T>A | CA359204794 | DNAH5 | c.9476A>T (p.Lys3159Met) c.9431A>T (p.Lys3144Met) n.188A>T c.9584A>T (p.Lys3195Met) c.8489A>T (p.Lys2830Met) c.4673A>T (p.Lys1558Met) c.4226A>T (p.Lys1409Met) c.3563A>T (p.Lys1188Met) c.8078A>T (p.Lys2693Met) | |
5 | g.13770878T>C | CA359204804 | DNAH5 | c.9476A>G (p.Lys3159Arg) c.9431A>G (p.Lys3144Arg) n.188A>G c.9584A>G (p.Lys3195Arg) c.8489A>G (p.Lys2830Arg) c.4673A>G (p.Lys1558Arg) c.4226A>G (p.Lys1409Arg) c.3563A>G (p.Lys1188Arg) c.8078A>G (p.Lys2693Arg) | |
5 | g.13770878T>G | CA359204796 | DNAH5 | c.9476A>C (p.Lys3159Thr) c.9431A>C (p.Lys3144Thr) n.188A>C c.9584A>C (p.Lys3195Thr) c.8489A>C (p.Lys2830Thr) c.4673A>C (p.Lys1558Thr) c.4226A>C (p.Lys1409Thr) c.3563A>C (p.Lys1188Thr) c.8078A>C (p.Lys2693Thr) | |
5 | g.13770879T>A | CA3202540 | DNAH5 | c.9475A>T (p.Lys3159Ter) c.9430A>T (p.Lys3144Ter) n.187A>T c.9583A>T (p.Lys3195Ter) c.8488A>T (p.Lys2830Ter) c.4672A>T (p.Lys1558Ter) c.4225A>T (p.Lys1409Ter) c.3562A>T (p.Lys1188Ter) c.8077A>T (p.Lys2693Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770879T>C | CA359204814 | DNAH5 | c.9475A>G (p.Lys3159Glu) c.9430A>G (p.Lys3144Glu) n.187A>G c.9583A>G (p.Lys3195Glu) c.8488A>G (p.Lys2830Glu) c.4672A>G (p.Lys1558Glu) c.4225A>G (p.Lys1409Glu) c.3562A>G (p.Lys1188Glu) c.8077A>G (p.Lys2693Glu) | |
5 | g.13770879T>G | CA359204811 | DNAH5 | c.9475A>C (p.Lys3159Gln) c.9430A>C (p.Lys3144Gln) n.187A>C c.9583A>C (p.Lys3195Gln) c.8488A>C (p.Lys2830Gln) c.4672A>C (p.Lys1558Gln) c.4225A>C (p.Lys1409Gln) c.3562A>C (p.Lys1188Gln) c.8077A>C (p.Lys2693Gln) | dbSNP |
5 | g.13770879T= | CA1528431222 | DNAH5 | c.9475A= (p.Lys3159=) c.9430A= (p.Lys3144=) n.187A= c.9583A= (p.Lys3195=) c.8488A= (p.Lys2830=) c.4672A= (p.Lys1558=) c.4225A= (p.Lys1409=) c.3562A= (p.Lys1188=) c.8077A= (p.Lys2693=) | |
5 | g.13770880C>A | CA359204817 | DNAH5 | c.9474G>T (p.Glu3158Asp) c.9429G>T (p.Glu3143Asp) n.186G>T c.9582G>T (p.Glu3194Asp) c.8487G>T (p.Glu2829Asp) c.4671G>T (p.Glu1557Asp) c.4224G>T (p.Glu1408Asp) c.3561G>T (p.Glu1187Asp) c.8076G>T (p.Glu2692Asp) | COSMIC |
5 | g.13770880C>G | CA359204819 | DNAH5 | c.9474G>C (p.Glu3158Asp) c.9429G>C (p.Glu3143Asp) n.186G>C c.9582G>C (p.Glu3194Asp) c.8487G>C (p.Glu2829Asp) c.4671G>C (p.Glu1557Asp) c.4224G>C (p.Glu1408Asp) c.3561G>C (p.Glu1187Asp) c.8076G>C (p.Glu2692Asp) | |
5 | g.13770880C>T | CA443535647 | DNAH5 | c.9474G>A (p.Glu3158=) c.9429G>A (p.Glu3143=) n.186G>A c.9582G>A (p.Glu3194=) c.8487G>A (p.Glu2829=) c.4671G>A (p.Glu1557=) c.4224G>A (p.Glu1408=) c.3561G>A (p.Glu1187=) c.8076G>A (p.Glu2692=) | gnomAD v4 |
5 | g.13770881T>A | CA359204822 | DNAH5 | c.9473A>T (p.Glu3158Val) c.9428A>T (p.Glu3143Val) n.185A>T c.9581A>T (p.Glu3194Val) c.8486A>T (p.Glu2829Val) c.4670A>T (p.Glu1557Val) c.4223A>T (p.Glu1408Val) c.3560A>T (p.Glu1187Val) c.8075A>T (p.Glu2692Val) | |
5 | g.13770881T>C | CA359204824 | DNAH5 | c.9473A>G (p.Glu3158Gly) c.9428A>G (p.Glu3143Gly) n.185A>G c.9581A>G (p.Glu3194Gly) c.8486A>G (p.Glu2829Gly) c.4670A>G (p.Glu1557Gly) c.4223A>G (p.Glu1408Gly) c.3560A>G (p.Glu1187Gly) c.8075A>G (p.Glu2692Gly) | |
5 | g.13770881T>G | CA359204825 | DNAH5 | c.9473A>C (p.Glu3158Ala) c.9428A>C (p.Glu3143Ala) n.185A>C c.9581A>C (p.Glu3194Ala) c.8486A>C (p.Glu2829Ala) c.4670A>C (p.Glu1557Ala) c.4223A>C (p.Glu1408Ala) c.3560A>C (p.Glu1187Ala) c.8075A>C (p.Glu2692Ala) | |
5 | g.13770882C>A | CA359204826 | DNAH5 | c.9472G>T (p.Glu3158Ter) c.9427G>T (p.Glu3143Ter) n.184G>T c.9580G>T (p.Glu3194Ter) c.8485G>T (p.Glu2829Ter) c.4669G>T (p.Glu1557Ter) c.4222G>T (p.Glu1408Ter) c.3559G>T (p.Glu1187Ter) c.8074G>T (p.Glu2692Ter) | |
5 | g.13770882C= | CA1528431223 | DNAH5 | c.9472G= (p.Glu3158=) c.9427G= (p.Glu3143=) n.184G= c.9580G= (p.Glu3194=) c.8485G= (p.Glu2829=) c.4669G= (p.Glu1557=) c.4222G= (p.Glu1408=) c.3559G= (p.Glu1187=) c.8074G= (p.Glu2692=) | |
5 | g.13770882C>G | CA359204828 | DNAH5 | c.9472G>C (p.Glu3158Gln) c.9427G>C (p.Glu3143Gln) n.184G>C c.9580G>C (p.Glu3194Gln) c.8485G>C (p.Glu2829Gln) c.4669G>C (p.Glu1557Gln) c.4222G>C (p.Glu1408Gln) c.3559G>C (p.Glu1187Gln) c.8074G>C (p.Glu2692Gln) | |
5 | g.13770882C>T | CA113933049 | DNAH5 | c.9472G>A (p.Glu3158Lys) c.9427G>A (p.Glu3143Lys) n.184G>A c.9580G>A (p.Glu3194Lys) c.8485G>A (p.Glu2829Lys) c.4669G>A (p.Glu1557Lys) c.4222G>A (p.Glu1408Lys) c.3559G>A (p.Glu1187Lys) c.8074G>A (p.Glu2692Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770883A>C | CA443535652 | DNAH5 | c.9471T>G (p.Ala3157=) c.9426T>G (p.Ala3142=) n.183T>G c.9579T>G (p.Ala3193=) c.8484T>G (p.Ala2828=) c.4668T>G (p.Ala1556=) c.4221T>G (p.Ala1407=) c.3558T>G (p.Ala1186=) c.8073T>G (p.Ala2691=) | gnomAD v4 |
5 | g.13770883A>G | CA443535653 | DNAH5 | c.9471T>C (p.Ala3157=) c.9426T>C (p.Ala3142=) n.183T>C c.9579T>C (p.Ala3193=) c.8484T>C (p.Ala2828=) c.4668T>C (p.Ala1556=) c.4221T>C (p.Ala1407=) c.3558T>C (p.Ala1186=) c.8073T>C (p.Ala2691=) | |
5 | g.13770883A>T | CA443535654 | DNAH5 | c.9471T>A (p.Ala3157=) c.9426T>A (p.Ala3142=) n.183T>A c.9579T>A (p.Ala3193=) c.8484T>A (p.Ala2828=) c.4668T>A (p.Ala1556=) c.4221T>A (p.Ala1407=) c.3558T>A (p.Ala1186=) c.8073T>A (p.Ala2691=) | |
5 | g.13770884G>A | CA3202541 | DNAH5 | c.9470C>T (p.Ala3157Val) c.9425C>T (p.Ala3142Val) n.182C>T c.9578C>T (p.Ala3193Val) c.8483C>T (p.Ala2828Val) c.4667C>T (p.Ala1556Val) c.4220C>T (p.Ala1407Val) c.3557C>T (p.Ala1186Val) c.8072C>T (p.Ala2691Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770884G>C | CA359204835 | DNAH5 | c.9470C>G (p.Ala3157Gly) c.9425C>G (p.Ala3142Gly) n.182C>G c.9578C>G (p.Ala3193Gly) c.8483C>G (p.Ala2828Gly) c.4667C>G (p.Ala1556Gly) c.4220C>G (p.Ala1407Gly) c.3557C>G (p.Ala1186Gly) c.8072C>G (p.Ala2691Gly) | |
5 | g.13770884G= | CA1528431224 | DNAH5 | c.9470C= (p.Ala3157=) c.9425C= (p.Ala3142=) n.182C= c.9578C= (p.Ala3193=) c.8483C= (p.Ala2828=) c.4667C= (p.Ala1556=) c.4220C= (p.Ala1407=) c.3557C= (p.Ala1186=) c.8072C= (p.Ala2691=) | |
5 | g.13770884G>T | CA113933058 | DNAH5 | c.9470C>A (p.Ala3157Asp) c.9425C>A (p.Ala3142Asp) n.182C>A c.9578C>A (p.Ala3193Asp) c.8483C>A (p.Ala2828Asp) c.4667C>A (p.Ala1556Asp) c.4220C>A (p.Ala1407Asp) c.3557C>A (p.Ala1186Asp) c.8072C>A (p.Ala2691Asp) | dbSNP gnomAD v4 |
5 | g.13770885C>A | CA359204836 | DNAH5 | c.9469G>T (p.Ala3157Ser) c.9424G>T (p.Ala3142Ser) n.181G>T c.9577G>T (p.Ala3193Ser) c.8482G>T (p.Ala2828Ser) c.4666G>T (p.Ala1556Ser) c.4219G>T (p.Ala1407Ser) c.3556G>T (p.Ala1186Ser) c.8071G>T (p.Ala2691Ser) | |
5 | g.13770885C>G | CA359204838 | DNAH5 | c.9469G>C (p.Ala3157Pro) c.9424G>C (p.Ala3142Pro) n.181G>C c.9577G>C (p.Ala3193Pro) c.8482G>C (p.Ala2828Pro) c.4666G>C (p.Ala1556Pro) c.4219G>C (p.Ala1407Pro) c.3556G>C (p.Ala1186Pro) c.8071G>C (p.Ala2691Pro) | |
5 | g.13770885C>T | CA359204837 | DNAH5 | c.9469G>A (p.Ala3157Thr) c.9424G>A (p.Ala3142Thr) n.181G>A c.9577G>A (p.Ala3193Thr) c.8482G>A (p.Ala2828Thr) c.4666G>A (p.Ala1556Thr) c.4219G>A (p.Ala1407Thr) c.3556G>A (p.Ala1186Thr) c.8071G>A (p.Ala2691Thr) | gnomAD v4 |
5 | g.13770886C>A | CA443535659 | DNAH5 | c.9468G>T (p.Val3156=) c.9423G>T (p.Val3141=) n.180G>T c.9576G>T (p.Val3192=) c.8481G>T (p.Val2827=) c.4665G>T (p.Val1555=) c.4218G>T (p.Val1406=) c.3555G>T (p.Val1185=) c.8070G>T (p.Val2690=) | |
5 | g.13770886C>G | CA443535660 | DNAH5 | c.9468G>C (p.Val3156=) c.9423G>C (p.Val3141=) n.180G>C c.9576G>C (p.Val3192=) c.8481G>C (p.Val2827=) c.4665G>C (p.Val1555=) c.4218G>C (p.Val1406=) c.3555G>C (p.Val1185=) c.8070G>C (p.Val2690=) | |
5 | g.13770886C>T | CA443535661 | DNAH5 | c.9468G>A (p.Val3156=) c.9423G>A (p.Val3141=) n.180G>A c.9576G>A (p.Val3192=) c.8481G>A (p.Val2827=) c.4665G>A (p.Val1555=) c.4218G>A (p.Val1406=) c.3555G>A (p.Val1185=) c.8070G>A (p.Val2690=) | gnomAD v4 |
5 | g.13770887A= | CA1528431225 | DNAH5 | c.9467T= (p.Val3156=) c.9422T= (p.Val3141=) n.179T= c.9575T= (p.Val3192=) c.8480T= (p.Val2827=) c.4664T= (p.Val1555=) c.4217T= (p.Val1406=) c.3554T= (p.Val1185=) c.8069T= (p.Val2690=) | |
5 | g.13770887A>C | CA359204841 | DNAH5 | c.9467T>G (p.Val3156Gly) c.9422T>G (p.Val3141Gly) n.179T>G c.9575T>G (p.Val3192Gly) c.8480T>G (p.Val2827Gly) c.4664T>G (p.Val1555Gly) c.4217T>G (p.Val1406Gly) c.3554T>G (p.Val1185Gly) c.8069T>G (p.Val2690Gly) | |
5 | g.13770887A>G | CA359204850 | DNAH5 | c.9467T>C (p.Val3156Ala) c.9422T>C (p.Val3141Ala) n.179T>C c.9575T>C (p.Val3192Ala) c.8480T>C (p.Val2827Ala) c.4664T>C (p.Val1555Ala) c.4217T>C (p.Val1406Ala) c.3554T>C (p.Val1185Ala) c.8069T>C (p.Val2690Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770887A>T | CA359204853 | DNAH5 | c.9467T>A (p.Val3156Glu) c.9422T>A (p.Val3141Glu) n.179T>A c.9575T>A (p.Val3192Glu) c.8480T>A (p.Val2827Glu) c.4664T>A (p.Val1555Glu) c.4217T>A (p.Val1406Glu) c.3554T>A (p.Val1185Glu) c.8069T>A (p.Val2690Glu) |