| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13794031G>A | CA3202956 | DNAH5 | c.7915C>T (p.Arg2639Ter) c.7870C>T (p.Arg2624Ter) n.8122C>T c.8023C>T (p.Arg2675Ter) c.6928C>T (p.Arg2310Ter) c.3112C>T (p.Arg1038Ter) c.2665C>T (p.Arg889Ter) c.*18C>T (n.*18C>T) c.2002C>T (p.Arg668Ter) c.6517C>T (p.Arg2173Ter) n.8040C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13794031G>C | CA359222239 | DNAH5 | c.7915C>G (p.Arg2639Gly) c.7870C>G (p.Arg2624Gly) n.8122C>G c.8023C>G (p.Arg2675Gly) c.6928C>G (p.Arg2310Gly) c.3112C>G (p.Arg1038Gly) c.2665C>G (p.Arg889Gly) c.*18C>G (n.*18C>G) c.2002C>G (p.Arg668Gly) c.6517C>G (p.Arg2173Gly) n.8040C>G | |
| 5 | g.13794031G= | CA1528441872 | DNAH5 | c.7915C= (p.Arg2639=) c.7870C= (p.Arg2624=) n.8122C= c.8023C= (p.Arg2675=) c.6928C= (p.Arg2310=) c.3112C= (p.Arg1038=) c.2665C= (p.Arg889=) c.*18C= (n.*18C=) c.2002C= (p.Arg668=) c.6517C= (p.Arg2173=) n.8040C= | |
| 5 | g.13794031G>T | CA443267491 | DNAH5 | c.7915C>A (p.Arg2639=) c.7870C>A (p.Arg2624=) n.8122C>A c.8023C>A (p.Arg2675=) c.6928C>A (p.Arg2310=) c.3112C>A (p.Arg1038=) c.2665C>A (p.Arg889=) c.*18C>A (n.*18C>A) c.2002C>A (p.Arg668=) c.6517C>A (p.Arg2173=) n.8040C>A | gnomAD v4 |
| 5 | g.13794032T>A | CA359222241 | DNAH5 | c.7914A>T (p.Lys2638Asn) c.7869A>T (p.Lys2623Asn) n.8121A>T c.8022A>T (p.Lys2674Asn) c.6927A>T (p.Lys2309Asn) c.3111A>T (p.Lys1037Asn) c.2664A>T (p.Lys888Asn) c.*17A>T (n.*17A>T) c.2001A>T (p.Lys667Asn) c.6516A>T (p.Lys2172Asn) n.8039A>T | |
| 5 | g.13794032T>C | CA443267494 | DNAH5 | c.7914A>G (p.Lys2638=) c.7869A>G (p.Lys2623=) n.8121A>G c.8022A>G (p.Lys2674=) c.6927A>G (p.Lys2309=) c.3111A>G (p.Lys1037=) c.2664A>G (p.Lys888=) c.*17A>G (n.*17A>G) c.2001A>G (p.Lys667=) c.6516A>G (p.Lys2172=) n.8039A>G | ClinVar dbSNP |
| 5 | g.13794032T>G | CA359222243 | DNAH5 | c.7914A>C (p.Lys2638Asn) c.7869A>C (p.Lys2623Asn) n.8121A>C c.8022A>C (p.Lys2674Asn) c.6927A>C (p.Lys2309Asn) c.3111A>C (p.Lys1037Asn) c.2664A>C (p.Lys888Asn) c.*17A>C (n.*17A>C) c.2001A>C (p.Lys667Asn) c.6516A>C (p.Lys2172Asn) n.8039A>C | |
| 5 | g.13794034dup | CA3202955 | DNAH5 | c.7914dup (p.Arg2639ThrfsTer19) c.7869dup (p.Arg2624ThrfsTer19) n.8121dup c.8022dup (p.Arg2675ThrfsTer19) c.6927dup (p.Arg2310ThrfsTer19) c.3111dup (p.Arg1038ThrfsTer19) c.2664dup (p.Arg889ThrfsTer19) c.*17dup (n.*17dup) c.2001dup (p.Arg668ThrfsTer19) c.6516dup (p.Arg2173ThrfsTer19) n.8039dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13794033T>A | CA359222244 | DNAH5 | c.7913A>T (p.Lys2638Ile) c.7868A>T (p.Lys2623Ile) n.8120A>T c.8021A>T (p.Lys2674Ile) c.6926A>T (p.Lys2309Ile) c.3110A>T (p.Lys1037Ile) c.2663A>T (p.Lys888Ile) c.*16A>T (n.*16A>T) c.2000A>T (p.Lys667Ile) c.6515A>T (p.Lys2172Ile) n.8038A>T | |
| 5 | g.13794033T>C | CA359222247 | DNAH5 | c.7913A>G (p.Lys2638Arg) c.7868A>G (p.Lys2623Arg) n.8120A>G c.8021A>G (p.Lys2674Arg) c.6926A>G (p.Lys2309Arg) c.3110A>G (p.Lys1037Arg) c.2663A>G (p.Lys888Arg) c.*16A>G (n.*16A>G) c.2000A>G (p.Lys667Arg) c.6515A>G (p.Lys2172Arg) n.8038A>G | |
| 5 | g.13794033T>G | CA359222248 | DNAH5 | c.7913A>C (p.Lys2638Thr) c.7868A>C (p.Lys2623Thr) n.8120A>C c.8021A>C (p.Lys2674Thr) c.6926A>C (p.Lys2309Thr) c.3110A>C (p.Lys1037Thr) c.2663A>C (p.Lys888Thr) c.*16A>C (n.*16A>C) c.2000A>C (p.Lys667Thr) c.6515A>C (p.Lys2172Thr) n.8038A>C | |
| 5 | g.13794034T>A | CA359222249 | DNAH5 | c.7912A>T (p.Lys2638Ter) c.7867A>T (p.Lys2623Ter) n.8119A>T c.8020A>T (p.Lys2674Ter) c.6925A>T (p.Lys2309Ter) c.3109A>T (p.Lys1037Ter) c.2662A>T (p.Lys888Ter) c.*15A>T (n.*15A>T) c.1999A>T (p.Lys667Ter) c.6514A>T (p.Lys2172Ter) n.8037A>T | |
| 5 | g.13794034T>C | CA359222257 | DNAH5 | c.7912A>G (p.Lys2638Glu) c.7867A>G (p.Lys2623Glu) n.8119A>G c.8020A>G (p.Lys2674Glu) c.6925A>G (p.Lys2309Glu) c.3109A>G (p.Lys1037Glu) c.2662A>G (p.Lys888Glu) c.*15A>G (n.*15A>G) c.1999A>G (p.Lys667Glu) c.6514A>G (p.Lys2172Glu) n.8037A>G | |
| 5 | g.13794034T>G | CA359222259 | DNAH5 | c.7912A>C (p.Lys2638Gln) c.7867A>C (p.Lys2623Gln) n.8119A>C c.8020A>C (p.Lys2674Gln) c.6925A>C (p.Lys2309Gln) c.3109A>C (p.Lys1037Gln) c.2662A>C (p.Lys888Gln) c.*15A>C (n.*15A>C) c.1999A>C (p.Lys667Gln) c.6514A>C (p.Lys2172Gln) n.8037A>C | |
| 5 | g.13794035A>C | CA359222262 | DNAH5 | c.7911T>G (p.Asp2637Glu) c.7866T>G (p.Asp2622Glu) n.8118T>G c.8019T>G (p.Asp2673Glu) c.6924T>G (p.Asp2308Glu) c.3108T>G (p.Asp1036Glu) c.2661T>G (p.Asp887Glu) c.*14T>G (n.*14T>G) c.1998T>G (p.Asp666Glu) c.6513T>G (p.Asp2171Glu) n.8036T>G | |
| 5 | g.13794035A>G | CA443267497 | DNAH5 | c.7911T>C (p.Asp2637=) c.7866T>C (p.Asp2622=) n.8118T>C c.8019T>C (p.Asp2673=) c.6924T>C (p.Asp2308=) c.3108T>C (p.Asp1036=) c.2661T>C (p.Asp887=) c.*14T>C (n.*14T>C) c.1998T>C (p.Asp666=) c.6513T>C (p.Asp2171=) n.8036T>C | ClinVar dbSNP |
| 5 | g.13794035A>T | CA359222260 | DNAH5 | c.7911T>A (p.Asp2637Glu) c.7866T>A (p.Asp2622Glu) n.8118T>A c.8019T>A (p.Asp2673Glu) c.6924T>A (p.Asp2308Glu) c.3108T>A (p.Asp1036Glu) c.2661T>A (p.Asp887Glu) c.*14T>A (n.*14T>A) c.1998T>A (p.Asp666Glu) c.6513T>A (p.Asp2171Glu) n.8036T>A | |
| 5 | g.13794036T>A | CA359222264 | DNAH5 | c.7910A>T (p.Asp2637Val) c.7865A>T (p.Asp2622Val) n.8117A>T c.8018A>T (p.Asp2673Val) c.6923A>T (p.Asp2308Val) c.3107A>T (p.Asp1036Val) c.2660A>T (p.Asp887Val) c.*13A>T (n.*13A>T) c.1997A>T (p.Asp666Val) c.6512A>T (p.Asp2171Val) n.8035A>T | |
| 5 | g.13794036T>C | CA359222265 | DNAH5 | c.7910A>G (p.Asp2637Gly) c.7865A>G (p.Asp2622Gly) n.8117A>G c.8018A>G (p.Asp2673Gly) c.6923A>G (p.Asp2308Gly) c.3107A>G (p.Asp1036Gly) c.2660A>G (p.Asp887Gly) c.*13A>G (n.*13A>G) c.1997A>G (p.Asp666Gly) c.6512A>G (p.Asp2171Gly) n.8035A>G | gnomAD v4 |
| 5 | g.13794036T>G | CA359222266 | DNAH5 | c.7910A>C (p.Asp2637Ala) c.7865A>C (p.Asp2622Ala) n.8117A>C c.8018A>C (p.Asp2673Ala) c.6923A>C (p.Asp2308Ala) c.3107A>C (p.Asp1036Ala) c.2660A>C (p.Asp887Ala) c.*13A>C (n.*13A>C) c.1997A>C (p.Asp666Ala) c.6512A>C (p.Asp2171Ala) n.8035A>C | |
| 5 | g.13794037C>A | CA359222267 | DNAH5 | c.7909G>T (p.Asp2637Tyr) c.7864G>T (p.Asp2622Tyr) n.8116G>T c.8017G>T (p.Asp2673Tyr) c.6922G>T (p.Asp2308Tyr) c.3106G>T (p.Asp1036Tyr) c.2659G>T (p.Asp887Tyr) c.*12G>T (n.*12G>T) c.1996G>T (p.Asp666Tyr) c.6511G>T (p.Asp2171Tyr) n.8034G>T | gnomAD v4 |
| 5 | g.13794037C>G | CA359222268 | DNAH5 | c.7909G>C (p.Asp2637His) c.7864G>C (p.Asp2622His) n.8116G>C c.8017G>C (p.Asp2673His) c.6922G>C (p.Asp2308His) c.3106G>C (p.Asp1036His) c.2659G>C (p.Asp887His) c.*12G>C (n.*12G>C) c.1996G>C (p.Asp666His) c.6511G>C (p.Asp2171His) n.8034G>C | |
| 5 | g.13794037C>T | CA359222271 | DNAH5 | c.7909G>A (p.Asp2637Asn) c.7864G>A (p.Asp2622Asn) n.8116G>A c.8017G>A (p.Asp2673Asn) c.6922G>A (p.Asp2308Asn) c.3106G>A (p.Asp1036Asn) c.2659G>A (p.Asp887Asn) c.*12G>A (n.*12G>A) c.1996G>A (p.Asp666Asn) c.6511G>A (p.Asp2171Asn) n.8034G>A | COSMIC |
| 5 | g.13794038C>A | CA443267500 | DNAH5 | c.7908G>T (p.Val2636=) c.7863G>T (p.Val2621=) n.8115G>T c.8016G>T (p.Val2672=) c.6921G>T (p.Val2307=) c.3105G>T (p.Val1035=) c.2658G>T (p.Val886=) c.*11G>T (n.*11G>T) c.1995G>T (p.Val665=) c.6510G>T (p.Val2170=) n.8033G>T | |
| 5 | g.13794038C>G | CA443267502 | DNAH5 | c.7908G>C (p.Val2636=) c.7863G>C (p.Val2621=) n.8115G>C c.8016G>C (p.Val2672=) c.6921G>C (p.Val2307=) c.3105G>C (p.Val1035=) c.2658G>C (p.Val886=) c.*11G>C (n.*11G>C) c.1995G>C (p.Val665=) c.6510G>C (p.Val2170=) n.8033G>C | |
| 5 | g.13794038C>T | CA443267503 | DNAH5 | c.7908G>A (p.Val2636=) c.7863G>A (p.Val2621=) n.8115G>A c.8016G>A (p.Val2672=) c.6921G>A (p.Val2307=) c.3105G>A (p.Val1035=) c.2658G>A (p.Val886=) c.*11G>A (n.*11G>A) c.1995G>A (p.Val665=) c.6510G>A (p.Val2170=) n.8033G>A | |
| 5 | g.13794039A>C | CA359222277 | DNAH5 | c.7907T>G (p.Val2636Gly) c.7862T>G (p.Val2621Gly) n.8114T>G c.8015T>G (p.Val2672Gly) c.6920T>G (p.Val2307Gly) c.3104T>G (p.Val1035Gly) c.2657T>G (p.Val886Gly) c.*10T>G (n.*10T>G) c.1994T>G (p.Val665Gly) c.6509T>G (p.Val2170Gly) n.8032T>G | |
| 5 | g.13794039A>G | CA359222273 | DNAH5 | c.7907T>C (p.Val2636Ala) c.7862T>C (p.Val2621Ala) n.8114T>C c.8015T>C (p.Val2672Ala) c.6920T>C (p.Val2307Ala) c.3104T>C (p.Val1035Ala) c.2657T>C (p.Val886Ala) c.*10T>C (n.*10T>C) c.1994T>C (p.Val665Ala) c.6509T>C (p.Val2170Ala) n.8032T>C | |
| 5 | g.13794039A>T | CA359222275 | DNAH5 | c.7907T>A (p.Val2636Glu) c.7862T>A (p.Val2621Glu) n.8114T>A c.8015T>A (p.Val2672Glu) c.6920T>A (p.Val2307Glu) c.3104T>A (p.Val1035Glu) c.2657T>A (p.Val886Glu) c.*10T>A (n.*10T>A) c.1994T>A (p.Val665Glu) c.6509T>A (p.Val2170Glu) n.8032T>A | |
| 5 | g.13794040C>A | CA359222283 | DNAH5 | c.7906G>T (p.Val2636Leu) c.7861G>T (p.Val2621Leu) n.8113G>T c.8014G>T (p.Val2672Leu) c.6919G>T (p.Val2307Leu) c.3103G>T (p.Val1035Leu) c.2656G>T (p.Val886Leu) c.*9G>T (n.*9G>T) c.1993G>T (p.Val665Leu) c.6508G>T (p.Val2170Leu) n.8031G>T | |
| 5 | g.13794040C>G | CA359222285 | DNAH5 | c.7906G>C (p.Val2636Leu) c.7861G>C (p.Val2621Leu) n.8113G>C c.8014G>C (p.Val2672Leu) c.6919G>C (p.Val2307Leu) c.3103G>C (p.Val1035Leu) c.2656G>C (p.Val886Leu) c.*9G>C (n.*9G>C) c.1993G>C (p.Val665Leu) c.6508G>C (p.Val2170Leu) n.8031G>C | |
| 5 | g.13794040C>T | CA359222293 | DNAH5 | c.7906G>A (p.Val2636Met) c.7861G>A (p.Val2621Met) n.8113G>A c.8014G>A (p.Val2672Met) c.6919G>A (p.Val2307Met) c.3103G>A (p.Val1035Met) c.2656G>A (p.Val886Met) c.*9G>A (n.*9G>A) c.1993G>A (p.Val665Met) c.6508G>A (p.Val2170Met) n.8031G>A | |
| 5 | g.13794041A>C | CA359222307 | DNAH5 | c.7905T>G (p.Tyr2635Ter) c.7860T>G (p.Tyr2620Ter) n.8112T>G c.8013T>G (p.Tyr2671Ter) c.6918T>G (p.Tyr2306Ter) c.3102T>G (p.Tyr1034Ter) c.2655T>G (p.Tyr885Ter) c.*8T>G (n.*8T>G) c.1992T>G (p.Tyr664Ter) c.6507T>G (p.Tyr2169Ter) n.8030T>G | |
| 5 | g.13794041A>G | CA443267505 | DNAH5 | c.7905T>C (p.Tyr2635=) c.7860T>C (p.Tyr2620=) n.8112T>C c.8013T>C (p.Tyr2671=) c.6918T>C (p.Tyr2306=) c.3102T>C (p.Tyr1034=) c.2655T>C (p.Tyr885=) c.*8T>C (n.*8T>C) c.1992T>C (p.Tyr664=) c.6507T>C (p.Tyr2169=) n.8030T>C | |
| 5 | g.13794041A>T | CA359222309 | DNAH5 | c.7905T>A (p.Tyr2635Ter) c.7860T>A (p.Tyr2620Ter) n.8112T>A c.8013T>A (p.Tyr2671Ter) c.6918T>A (p.Tyr2306Ter) c.3102T>A (p.Tyr1034Ter) c.2655T>A (p.Tyr885Ter) c.*8T>A (n.*8T>A) c.1992T>A (p.Tyr664Ter) c.6507T>A (p.Tyr2169Ter) n.8030T>A | |
| 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 | dbSNP gnomAD v2 gnomAD v4 |