UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13794042T>A | CA359222318 | DNAH5 | c.7904A>T (p.Tyr2635Phe) c.7859A>T (p.Tyr2620Phe) n.8111A>T c.8012A>T (p.Tyr2671Phe) c.6917A>T (p.Tyr2306Phe) c.3101A>T (p.Tyr1034Phe) c.2654A>T (p.Tyr885Phe) c.*7A>T (n.*7A>T) c.1991A>T (p.Tyr664Phe) c.6506A>T (p.Tyr2169Phe) n.8029A>T | |
| 5 | g.13794042T>C | CA359222315 | DNAH5 | c.7904A>G (p.Tyr2635Cys) c.7859A>G (p.Tyr2620Cys) n.8111A>G c.8012A>G (p.Tyr2671Cys) c.6917A>G (p.Tyr2306Cys) c.3101A>G (p.Tyr1034Cys) c.2654A>G (p.Tyr885Cys) c.*7A>G (n.*7A>G) c.1991A>G (p.Tyr664Cys) c.6506A>G (p.Tyr2169Cys) n.8029A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13794042T>G | CA359222317 | DNAH5 | c.7904A>C (p.Tyr2635Ser) c.7859A>C (p.Tyr2620Ser) n.8111A>C c.8012A>C (p.Tyr2671Ser) c.6917A>C (p.Tyr2306Ser) c.3101A>C (p.Tyr1034Ser) c.2654A>C (p.Tyr885Ser) c.*7A>C (n.*7A>C) c.1991A>C (p.Tyr664Ser) c.6506A>C (p.Tyr2169Ser) n.8029A>C | |
| 5 | g.13794042T= | CA1528441873 | DNAH5 | c.7904A= (p.Tyr2635=) c.7859A= (p.Tyr2620=) n.8111A= c.8012A= (p.Tyr2671=) c.6917A= (p.Tyr2306=) c.3101A= (p.Tyr1034=) c.2654A= (p.Tyr885=) c.*7A= (n.*7A=) c.1991A= (p.Tyr664=) c.6506A= (p.Tyr2169=) n.8029A= | |
| 5 | g.13794043A>C | CA359222320 | DNAH5 | c.7903T>G (p.Tyr2635Asp) c.7858T>G (p.Tyr2620Asp) n.8110T>G c.8011T>G (p.Tyr2671Asp) c.6916T>G (p.Tyr2306Asp) c.3100T>G (p.Tyr1034Asp) c.2653T>G (p.Tyr885Asp) c.*6T>G (n.*6T>G) c.1990T>G (p.Tyr664Asp) c.6505T>G (p.Tyr2169Asp) n.8028T>G | |
| 5 | g.13794043A>G | CA359222322 | DNAH5 | c.7903T>C (p.Tyr2635His) c.7858T>C (p.Tyr2620His) n.8110T>C c.8011T>C (p.Tyr2671His) c.6916T>C (p.Tyr2306His) c.3100T>C (p.Tyr1034His) c.2653T>C (p.Tyr885His) c.*6T>C (n.*6T>C) c.1990T>C (p.Tyr664His) c.6505T>C (p.Tyr2169His) n.8028T>C | |
| 5 | g.13794043A>T | CA359222323 | DNAH5 | c.7903T>A (p.Tyr2635Asn) c.7858T>A (p.Tyr2620Asn) n.8110T>A c.8011T>A (p.Tyr2671Asn) c.6916T>A (p.Tyr2306Asn) c.3100T>A (p.Tyr1034Asn) c.2653T>A (p.Tyr885Asn) c.*6T>A (n.*6T>A) c.1990T>A (p.Tyr664Asn) c.6505T>A (p.Tyr2169Asn) n.8028T>A | |
| 5 | g.13794044G>A | CA443267508 | DNAH5 | c.7902C>T (p.Ser2634=) c.7857C>T (p.Ser2619=) n.8109C>T c.8010C>T (p.Ser2670=) c.6915C>T (p.Ser2305=) c.3099C>T (p.Ser1033=) c.2652C>T (p.Ser884=) c.*5C>T (n.*5C>T) c.1989C>T (p.Ser663=) c.6504C>T (p.Ser2168=) n.8027C>T | ClinVar |
| 5 | g.13794044G>C | CA359222324 | DNAH5 | c.7902C>G (p.Ser2634Arg) c.7857C>G (p.Ser2619Arg) n.8109C>G c.8010C>G (p.Ser2670Arg) c.6915C>G (p.Ser2305Arg) c.3099C>G (p.Ser1033Arg) c.2652C>G (p.Ser884Arg) c.*5C>G (n.*5C>G) c.1989C>G (p.Ser663Arg) c.6504C>G (p.Ser2168Arg) n.8027C>G | |
| 5 | g.13794044G>T | CA359222325 | DNAH5 | c.7902C>A (p.Ser2634Arg) c.7857C>A (p.Ser2619Arg) n.8109C>A c.8010C>A (p.Ser2670Arg) c.6915C>A (p.Ser2305Arg) c.3099C>A (p.Ser1033Arg) c.2652C>A (p.Ser884Arg) c.*5C>A (n.*5C>A) c.1989C>A (p.Ser663Arg) c.6504C>A (p.Ser2168Arg) n.8027C>A | |
| 5 | g.13794044_13794048delinsGCTCT | CA1528441874 | DNAH5 | c.7898_7902delinsAGAGC (p.Glu2633=) c.7853_7857delinsAGAGC (p.Glu2618=) n.8105_8109delinsAGAGC c.8006_8010delinsAGAGC (p.Glu2669=) c.6911_6915delinsAGAGC (p.Glu2304=) c.3095_3099delinsAGAGC (p.Glu1032=) c.2648_2652delinsAGAGC (p.Glu883=) c.*1_*5delinsAGAGC (n.*1_*5delinsAGAGC) c.1985_1989delinsAGAGC (p.Glu662=) c.6500_6504delinsAGAGC (p.Glu2167=) n.8023_8027delinsAGAGC | |
| 5 | g.13794045C>A | CA359222328 | DNAH5 | c.7901G>T (p.Ser2634Ile) c.7856G>T (p.Ser2619Ile) n.8108G>T c.8009G>T (p.Ser2670Ile) c.6914G>T (p.Ser2305Ile) c.3098G>T (p.Ser1033Ile) c.2651G>T (p.Ser884Ile) c.*4G>T (n.*4G>T) c.1988G>T (p.Ser663Ile) c.6503G>T (p.Ser2168Ile) n.8026G>T | |
| 5 | g.13794045C>G | CA359222327 | DNAH5 | c.7901G>C (p.Ser2634Thr) c.7856G>C (p.Ser2619Thr) n.8108G>C c.8009G>C (p.Ser2670Thr) c.6914G>C (p.Ser2305Thr) c.3098G>C (p.Ser1033Thr) c.2651G>C (p.Ser884Thr) c.*4G>C (n.*4G>C) c.1988G>C (p.Ser663Thr) c.6503G>C (p.Ser2168Thr) n.8026G>C | |
| 5 | g.13794045C>T | CA359222326 | DNAH5 | c.7901G>A (p.Ser2634Asn) c.7856G>A (p.Ser2619Asn) n.8108G>A c.8009G>A (p.Ser2670Asn) c.6914G>A (p.Ser2305Asn) c.3098G>A (p.Ser1033Asn) c.2651G>A (p.Ser884Asn) c.*4G>A (n.*4G>A) c.1988G>A (p.Ser663Asn) c.6503G>A (p.Ser2168Asn) n.8026G>A | |
| 5 | g.13794047_13794050del | CA557872553 | DNAH5 | c.7898_7901del (p.Glu2633AlafsTer19) c.7853_7856del (p.Glu2618AlafsTer19) n.8105_8108del c.8006_8009del (p.Glu2669AlafsTer19) c.6911_6914del (p.Glu2304AlafsTer19) c.3095_3098del (p.Glu1032AlafsTer19) c.2648_2651del (p.Glu883AlafsTer19) c.*1_*4del (n.*1_*4del) c.1985_1988del (p.Glu662AlafsTer19) c.6500_6503del (p.Glu2167AlafsTer19) n.8023_8026del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13794046T>A | CA359222329 | DNAH5 | c.7900A>T (p.Ser2634Cys) c.7855A>T (p.Ser2619Cys) n.8107A>T c.8008A>T (p.Ser2670Cys) c.6913A>T (p.Ser2305Cys) c.3097A>T (p.Ser1033Cys) c.2650A>T (p.Ser884Cys) c.*3A>T (n.*3A>T) c.1987A>T (p.Ser663Cys) c.6502A>T (p.Ser2168Cys) n.8025A>T | |
| 5 | g.13794046T>C | CA359222333 | DNAH5 | c.7900A>G (p.Ser2634Gly) c.7855A>G (p.Ser2619Gly) n.8107A>G c.8008A>G (p.Ser2670Gly) c.6913A>G (p.Ser2305Gly) c.3097A>G (p.Ser1033Gly) c.2650A>G (p.Ser884Gly) c.*3A>G (n.*3A>G) c.1987A>G (p.Ser663Gly) c.6502A>G (p.Ser2168Gly) n.8025A>G | |
| 5 | g.13794046T>G | CA359222335 | DNAH5 | c.7900A>C (p.Ser2634Arg) c.7855A>C (p.Ser2619Arg) n.8107A>C c.8008A>C (p.Ser2670Arg) c.6913A>C (p.Ser2305Arg) c.3097A>C (p.Ser1033Arg) c.2650A>C (p.Ser884Arg) c.*3A>C (n.*3A>C) c.1987A>C (p.Ser663Arg) c.6502A>C (p.Ser2168Arg) n.8025A>C | |
| 5 | g.13794047C>A | CA359222338 | DNAH5 | c.7899G>T (p.Glu2633Asp) c.7854G>T (p.Glu2618Asp) n.8106G>T c.8007G>T (p.Glu2669Asp) c.6912G>T (p.Glu2304Asp) c.3096G>T (p.Glu1032Asp) c.2649G>T (p.Glu883Asp) c.*2G>T (n.*2G>T) c.1986G>T (p.Glu662Asp) c.6501G>T (p.Glu2167Asp) n.8024G>T | COSMIC |
| 5 | g.13794047C= | CA1528441875 | DNAH5 | c.7899G= (p.Glu2633=) c.7854G= (p.Glu2618=) n.8106G= c.8007G= (p.Glu2669=) c.6912G= (p.Glu2304=) c.3096G= (p.Glu1032=) c.2649G= (p.Glu883=) c.*2G= (n.*2G=) c.1986G= (p.Glu662=) c.6501G= (p.Glu2167=) n.8024G= | |
| 5 | g.13794047C>G | CA359222342 | DNAH5 | c.7899G>C (p.Glu2633Asp) c.7854G>C (p.Glu2618Asp) n.8106G>C c.8007G>C (p.Glu2669Asp) c.6912G>C (p.Glu2304Asp) c.3096G>C (p.Glu1032Asp) c.2649G>C (p.Glu883Asp) c.*2G>C (n.*2G>C) c.1986G>C (p.Glu662Asp) c.6501G>C (p.Glu2167Asp) n.8024G>C | |
| 5 | g.13794047C>T | CA3202957 | DNAH5 | c.7899G>A (p.Glu2633=) c.7854G>A (p.Glu2618=) n.8106G>A c.8007G>A (p.Glu2669=) c.6912G>A (p.Glu2304=) c.3096G>A (p.Glu1032=) c.2649G>A (p.Glu883=) c.*2G>A (n.*2G>A) c.1986G>A (p.Glu662=) c.6501G>A (p.Glu2167=) n.8024G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13794048T>A | CA359222356 | DNAH5 | c.7898A>T (p.Glu2633Val) c.7853A>T (p.Glu2618Val) n.8105A>T c.8006A>T (p.Glu2669Val) c.6911A>T (p.Glu2304Val) c.3095A>T (p.Glu1032Val) c.2648A>T (p.Glu883Val) c.*1A>T (n.*1A>T) c.1985A>T (p.Glu662Val) c.6500A>T (p.Glu2167Val) n.8023A>T | |
| 5 | g.13794048T>C | CA359222361 | DNAH5 | c.7898A>G (p.Glu2633Gly) c.7853A>G (p.Glu2618Gly) n.8105A>G c.8006A>G (p.Glu2669Gly) c.6911A>G (p.Glu2304Gly) c.3095A>G (p.Glu1032Gly) c.2648A>G (p.Glu883Gly) c.*1A>G (n.*1A>G) c.1985A>G (p.Glu662Gly) c.6500A>G (p.Glu2167Gly) n.8023A>G | gnomAD v4 |
| 5 | g.13794048T>G | CA359222359 | DNAH5 | c.7898A>C (p.Glu2633Ala) c.7853A>C (p.Glu2618Ala) n.8105A>C c.8006A>C (p.Glu2669Ala) c.6911A>C (p.Glu2304Ala) c.3095A>C (p.Glu1032Ala) c.2648A>C (p.Glu883Ala) c.*1A>C (n.*1A>C) c.1985A>C (p.Glu662Ala) c.6500A>C (p.Glu2167Ala) n.8023A>C | |
| 5 | g.13794049C>A | CA359222370 | DNAH5 | c.7897G>T (p.Glu2633Ter) c.7852G>T (p.Glu2618Ter) n.8104G>T c.8005G>T (p.Glu2669Ter) c.6910G>T (p.Glu2304Ter) c.3094G>T (p.Glu1032Ter) c.2647G>T (p.Glu883Ter) c.8040G>T (p.Ter2680Tyr) c.1984G>T (p.Glu662Ter) c.6499G>T (p.Glu2167Ter) n.8022G>T | |
| 5 | g.13794049C>G | CA359222384 | DNAH5 | c.7897G>C (p.Glu2633Gln) c.7852G>C (p.Glu2618Gln) n.8104G>C c.8005G>C (p.Glu2669Gln) c.6910G>C (p.Glu2304Gln) c.3094G>C (p.Glu1032Gln) c.2647G>C (p.Glu883Gln) c.8040G>C (p.Ter2680Tyr) c.1984G>C (p.Glu662Gln) c.6499G>C (p.Glu2167Gln) n.8022G>C | |
| 5 | g.13794049C>T | CA359222386 | DNAH5 | c.7897G>A (p.Glu2633Lys) c.7852G>A (p.Glu2618Lys) n.8104G>A c.8005G>A (p.Glu2669Lys) c.6910G>A (p.Glu2304Lys) c.3094G>A (p.Glu1032Lys) c.2647G>A (p.Glu883Lys) c.8040G>A (p.Ter2680=) c.1984G>A (p.Glu662Lys) c.6499G>A (p.Glu2167Lys) n.8022G>A | |
| 5 | g.13794050T>A | CA443267514 | DNAH5 | c.7896A>T (p.Ile2632=) c.7851A>T (p.Ile2617=) n.8103A>T c.8004A>T (p.Ile2668=) c.6909A>T (p.Ile2303=) c.3093A>T (p.Ile1031=) c.2646A>T (p.Ile882=) c.8039A>T (p.Ter2680Leu) c.1983A>T (p.Ile661=) c.6498A>T (p.Ile2166=) n.8021A>T | |
| 5 | g.13794050T>C | CA359222388 | DNAH5 | c.7896A>G (p.Ile2632Met) c.7851A>G (p.Ile2617Met) n.8103A>G c.8004A>G (p.Ile2668Met) c.6909A>G (p.Ile2303Met) c.3093A>G (p.Ile1031Met) c.2646A>G (p.Ile882Met) c.8039A>G (p.Ter2680Trp) c.1983A>G (p.Ile661Met) c.6498A>G (p.Ile2166Met) n.8021A>G | |
| 5 | g.13794050T>G | CA443267517 | DNAH5 | c.7896A>C (p.Ile2632=) c.7851A>C (p.Ile2617=) n.8103A>C c.8004A>C (p.Ile2668=) c.6909A>C (p.Ile2303=) c.3093A>C (p.Ile1031=) c.2646A>C (p.Ile882=) c.8039A>C (p.Ter2680Ser) c.1983A>C (p.Ile661=) c.6498A>C (p.Ile2166=) n.8021A>C | |
| 5 | g.13794050dup | CA2673271400 | DNAH5 | c.7896dup (p.Glu2633ArgfsTer6) c.7851dup (p.Glu2618ArgfsTer6) n.8103dup c.8004dup (p.Glu2669ArgfsTer6) c.6909dup (p.Glu2304ArgfsTer6) c.3093dup (p.Glu1032ArgfsTer6) c.2646dup (p.Glu883ArgfsTer6) c.8039dup (p.Ter2680=) c.1983dup (p.Glu662ArgfsTer6) c.6498dup (p.Glu2167ArgfsTer6) n.8021dup | gnomAD v4 |
| 5 | g.13794051A= | CA1528441876 | DNAH5 | c.7895T= (p.Ile2632=) c.7850T= (p.Ile2617=) n.8102T= c.8003T= (p.Ile2668=) c.6908T= (p.Ile2303=) c.3092T= (p.Ile1031=) c.2645T= (p.Ile882=) c.8038T= (p.Ter2680=) c.1982T= (p.Ile661=) c.6497T= (p.Ile2166=) n.8020T= | |
| 5 | g.13794051A>C | CA359222394 | DNAH5 | c.7895T>G (p.Ile2632Arg) c.7850T>G (p.Ile2617Arg) n.8102T>G c.8003T>G (p.Ile2668Arg) c.6908T>G (p.Ile2303Arg) c.3092T>G (p.Ile1031Arg) c.2645T>G (p.Ile882Arg) c.8038T>G (p.Ter2680Glu) c.1982T>G (p.Ile661Arg) c.6497T>G (p.Ile2166Arg) n.8020T>G | |
| 5 | g.13794051A>G | CA359222401 | DNAH5 | c.7895T>C (p.Ile2632Thr) c.7850T>C (p.Ile2617Thr) n.8102T>C c.8003T>C (p.Ile2668Thr) c.6908T>C (p.Ile2303Thr) c.3092T>C (p.Ile1031Thr) c.2645T>C (p.Ile882Thr) c.8038T>C (p.Ter2680Gln) c.1982T>C (p.Ile661Thr) c.6497T>C (p.Ile2166Thr) n.8020T>C | dbSNP gnomAD v2 |
| 5 | g.13794051A>T | CA359222405 | DNAH5 | c.7895T>A (p.Ile2632Lys) c.7850T>A (p.Ile2617Lys) n.8102T>A c.8003T>A (p.Ile2668Lys) c.6908T>A (p.Ile2303Lys) c.3092T>A (p.Ile1031Lys) c.2645T>A (p.Ile882Lys) c.8038T>A (p.Ter2680Lys) c.1982T>A (p.Ile661Lys) c.6497T>A (p.Ile2166Lys) n.8020T>A | dbSNP |
| 5 | g.13794052T>A | CA359222440 | DNAH5 | c.7894A>T (p.Ile2632Leu) c.7849A>T (p.Ile2617Leu) n.8101A>T c.8002A>T (p.Ile2668Leu) c.6907A>T (p.Ile2303Leu) c.3091A>T (p.Ile1031Leu) c.2644A>T (p.Ile882Leu) c.8037A>T (p.Arg2679=) c.1981A>T (p.Ile661Leu) c.6496A>T (p.Ile2166Leu) n.8019A>T | gnomAD v4 |
| 5 | g.13794052T>C | CA359222443 | DNAH5 | c.7894A>G (p.Ile2632Val) c.7849A>G (p.Ile2617Val) n.8101A>G c.8002A>G (p.Ile2668Val) c.6907A>G (p.Ile2303Val) c.3091A>G (p.Ile1031Val) c.2644A>G (p.Ile882Val) c.8037A>G (p.Arg2679=) c.1981A>G (p.Ile661Val) c.6496A>G (p.Ile2166Val) n.8019A>G | |
| 5 | g.13794052T>G | CA359222454 | DNAH5 | c.7894A>C (p.Ile2632Leu) c.7849A>C (p.Ile2617Leu) n.8101A>C c.8002A>C (p.Ile2668Leu) c.6907A>C (p.Ile2303Leu) c.3091A>C (p.Ile1031Leu) c.2644A>C (p.Ile882Leu) c.8037A>C (p.Arg2679=) c.1981A>C (p.Ile661Leu) c.6496A>C (p.Ile2166Leu) n.8019A>C | |
| 5 | g.13794053C>A | CA443267519 | DNAH5 | c.7893G>T (p.Thr2631=) c.7848G>T (p.Thr2616=) n.8100G>T c.8001G>T (p.Thr2667=) c.6906G>T (p.Thr2302=) c.3090G>T (p.Thr1030=) c.2643G>T (p.Thr881=) c.8036G>T (p.Arg2679Leu) c.1980G>T (p.Thr660=) c.6495G>T (p.Thr2165=) n.8018G>T | ClinVar |
| 5 | g.13794053C= | CA1528441877 | DNAH5 | c.7893G= (p.Thr2631=) c.7848G= (p.Thr2616=) n.8100G= c.8001G= (p.Thr2667=) c.6906G= (p.Thr2302=) c.3090G= (p.Thr1030=) c.2643G= (p.Thr881=) c.8036G= (p.Arg2679=) c.1980G= (p.Thr660=) c.6495G= (p.Thr2165=) n.8018G= | |
| 5 | g.13794053C>G | CA443267522 | DNAH5 | c.7893G>C (p.Thr2631=) c.7848G>C (p.Thr2616=) n.8100G>C c.8001G>C (p.Thr2667=) c.6906G>C (p.Thr2302=) c.3090G>C (p.Thr1030=) c.2643G>C (p.Thr881=) c.8036G>C (p.Arg2679Pro) c.1980G>C (p.Thr660=) c.6495G>C (p.Thr2165=) n.8018G>C | |
| 5 | g.13794053C>T | CA3202958 | DNAH5 | c.7893G>A (p.Thr2631=) c.7848G>A (p.Thr2616=) n.8100G>A c.8001G>A (p.Thr2667=) c.6906G>A (p.Thr2302=) c.3090G>A (p.Thr1030=) c.2643G>A (p.Thr881=) c.8036G>A (p.Arg2679Gln) c.1980G>A (p.Thr660=) c.6495G>A (p.Thr2165=) n.8018G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13794054G>A | CA3202959 | DNAH5 | c.7892C>T (p.Thr2631Met) c.7847C>T (p.Thr2616Met) n.8099C>T c.8000C>T (p.Thr2667Met) c.6905C>T (p.Thr2302Met) c.3089C>T (p.Thr1030Met) c.2642C>T (p.Thr881Met) c.8035C>T (p.Arg2679Ter) c.1979C>T (p.Thr660Met) c.6494C>T (p.Thr2165Met) n.8017C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13794054G>C | CA359222469 | DNAH5 | c.7892C>G (p.Thr2631Arg) c.7847C>G (p.Thr2616Arg) n.8099C>G c.8000C>G (p.Thr2667Arg) c.6905C>G (p.Thr2302Arg) c.3089C>G (p.Thr1030Arg) c.2642C>G (p.Thr881Arg) c.8035C>G (p.Arg2679Gly) c.1979C>G (p.Thr660Arg) c.6494C>G (p.Thr2165Arg) n.8017C>G | |
| 5 | g.13794054G= | CA1528441878 | DNAH5 | c.7892C= (p.Thr2631=) c.7847C= (p.Thr2616=) n.8099C= c.8000C= (p.Thr2667=) c.6905C= (p.Thr2302=) c.3089C= (p.Thr1030=) c.2642C= (p.Thr881=) c.8035C= (p.Arg2679=) c.1979C= (p.Thr660=) c.6494C= (p.Thr2165=) n.8017C= | |
| 5 | g.13794054G>T | CA359222462 | DNAH5 | c.7892C>A (p.Thr2631Lys) c.7847C>A (p.Thr2616Lys) n.8099C>A c.8000C>A (p.Thr2667Lys) c.6905C>A (p.Thr2302Lys) c.3089C>A (p.Thr1030Lys) c.2642C>A (p.Thr881Lys) c.8035C>A (p.Arg2679=) c.1979C>A (p.Thr660Lys) c.6494C>A (p.Thr2165Lys) n.8017C>A | |
| 5 | g.13794055T>A | CA359222472 | DNAH5 | c.7891A>T (p.Thr2631Ser) c.7846A>T (p.Thr2616Ser) n.8098A>T c.7999A>T (p.Thr2667Ser) c.6904A>T (p.Thr2302Ser) c.3088A>T (p.Thr1030Ser) c.2641A>T (p.Thr881Ser) c.8034A>T (p.Gly2678=) c.1978A>T (p.Thr660Ser) c.6493A>T (p.Thr2165Ser) n.8016A>T | |
| 5 | g.13794055T>C | CA3202960 | DNAH5 | c.7891A>G (p.Thr2631Ala) c.7846A>G (p.Thr2616Ala) n.8098A>G c.7999A>G (p.Thr2667Ala) c.6904A>G (p.Thr2302Ala) c.3088A>G (p.Thr1030Ala) c.2641A>G (p.Thr881Ala) c.8034A>G (p.Gly2678=) c.1978A>G (p.Thr660Ala) c.6493A>G (p.Thr2165Ala) n.8016A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13794055T>G | CA359222476 | DNAH5 | c.7891A>C (p.Thr2631Pro) c.7846A>C (p.Thr2616Pro) n.8098A>C c.7999A>C (p.Thr2667Pro) c.6904A>C (p.Thr2302Pro) c.3088A>C (p.Thr1030Pro) c.2641A>C (p.Thr881Pro) c.8034A>C (p.Gly2678=) c.1978A>C (p.Thr660Pro) c.6493A>C (p.Thr2165Pro) n.8016A>C |