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 |
|---|---|---|---|---|---|
| 7 | g.21599854A>C | CA366944082 | DNAH11 | c.2735A>C (p.Asp912Ala) | |
| 7 | g.21599854A>G | CA366944084 | DNAH11 | c.2735A>G (p.Asp912Gly) | |
| 7 | g.21599854A>T | CA366944087 | DNAH11 | c.2735A>T (p.Asp912Val) | |
| 7 | g.21599855C>A | CA366944090 | DNAH11 | c.2736C>A (p.Asp912Glu) | |
| 7 | g.21599855C= | CA1693579036 | DNAH11 | c.2736C= (p.Asp912=) | |
| 7 | g.21599855C>G | CA366944091 | DNAH11 | c.2736C>G (p.Asp912Glu) | |
| 7 | g.21599855C>T | CA4179419 | DNAH11 | c.2736C>T (p.Asp912=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.21599856G>A | CA4179420 | DNAH11 | c.2737G>A (p.Asp913Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599856G>C | CA366944099 | DNAH11 | c.2737G>C (p.Asp913His) | |
| 7 | g.21599856G= | CA1693579039 | DNAH11 | c.2737G= (p.Asp913=) | |
| 7 | g.21599856G>T | CA366944097 | DNAH11 | c.2737G>T (p.Asp913Tyr) | |
| 7 | g.21599857A>C | CA366944103 | DNAH11 | c.2738A>C (p.Asp913Ala) | |
| 7 | g.21599857A>G | CA366944105 | DNAH11 | c.2738A>G (p.Asp913Gly) | |
| 7 | g.21599857A>T | CA366944119 | DNAH11 | c.2738A>T (p.Asp913Val) | |
| 7 | g.21599858C>A | CA366944123 | DNAH11 | c.2739C>A (p.Asp913Glu) | |
| 7 | g.21599858C>G | CA366944126 | DNAH11 | c.2739C>G (p.Asp913Glu) | |
| 7 | g.21599858C>T | CA453963439 | DNAH11 | c.2739C>T (p.Asp913=) | ClinVar gnomAD v4 |
| 7 | g.21599858_21599859delinsCA | CA1693579042 | DNAH11 | c.2739_2740delinsCA (p.Asp913=) | |
| 7 | g.21599859del | CA4179421 | DNAH11 | c.2740del (p.Ile914LeufsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21599859A= | CA1693579047 | DNAH11 | c.2740A= (p.Ile914=) | |
| 7 | g.21599859A>C | CA366944129 | DNAH11 | c.2740A>C (p.Ile914Leu) | |
| 7 | g.21599859A>G | CA4179422 | DNAH11 | c.2740A>G (p.Ile914Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21599859A>T | CA366944136 | DNAH11 | c.2740A>T (p.Ile914Phe) | |
| 7 | g.21599860T>A | CA366944138 | DNAH11 | c.2741T>A (p.Ile914Asn) | |
| 7 | g.21599860T>C | CA366944141 | DNAH11 | c.2741T>C (p.Ile914Thr) | |
| 7 | g.21599860T>G | CA4179423 | DNAH11 | c.2741T>G (p.Ile914Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599860T= | CA1693579052 | DNAH11 | c.2741T= (p.Ile914=) | |
| 7 | g.21599861T>A | CA453963440 | DNAH11 | c.2742T>A (p.Ile914=) | |
| 7 | g.21599861T>C | CA453963441 | DNAH11 | c.2742T>C (p.Ile914=) | |
| 7 | g.21599861T>G | CA366944144 | DNAH11 | c.2742T>G (p.Ile914Met) | |
| 7 | g.21599862G>A | CA366944152 | DNAH11 | c.2743G>A (p.Val915Met) | |
| 7 | g.21599862G>C | CA366944149 | DNAH11 | c.2743G>C (p.Val915Leu) | |
| 7 | g.21599862G>T | CA366944154 | DNAH11 | c.2743G>T (p.Val915Leu) | |
| 7 | g.21599863T>A | CA366944159 | DNAH11 | c.2744T>A (p.Val915Glu) | |
| 7 | g.21599863T>C | CA366944161 | DNAH11 | c.2744T>C (p.Val915Ala) | |
| 7 | g.21599863T>G | CA366944162 | DNAH11 | c.2744T>G (p.Val915Gly) | gnomAD v4 |
| 7 | g.21599864G>A | CA453963442 | DNAH11 | c.2745G>A (p.Val915=) | gnomAD v4 |
| 7 | g.21599864G>C | CA453963443 | DNAH11 | c.2745G>C (p.Val915=) | |
| 7 | g.21599864G>T | CA453963444 | DNAH11 | c.2745G>T (p.Val915=) | |
| 7 | g.21599865G>A | CA366944166 | DNAH11 | c.2746G>A (p.Val916Met) | |
| 7 | g.21599865G>C | CA366944168 | DNAH11 | c.2746G>C (p.Val916Leu) | |
| 7 | g.21599865G>T | CA366944171 | DNAH11 | c.2746G>T (p.Val916Leu) | |
| 7 | g.21599866T>A | CA366944174 | DNAH11 | c.2747T>A (p.Val916Glu) | |
| 7 | g.21599866T>C | CA366944177 | DNAH11 | c.2747T>C (p.Val916Ala) | |
| 7 | g.21599866T>G | CA366944179 | DNAH11 | c.2747T>G (p.Val916Gly) | |
| 7 | g.21599867G>A | CA453963445 | DNAH11 | c.2748G>A (p.Val916=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21599867G>C | CA453963446 | DNAH11 | c.2748G>C (p.Val916=) | |
| 7 | g.21599867G= | CA1693579055 | DNAH11 | c.2748G= (p.Val916=) | |
| 7 | g.21599867G>T | CA453963447 | DNAH11 | c.2748G>T (p.Val916=) | |
| 7 | g.21599868G>A | CA366944183 | DNAH11 | c.2749G>A (p.Glu917Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21599868G>C | CA366944186 | DNAH11 | c.2749G>C (p.Glu917Gln) | |
| 7 | g.21599868G= | CA1693579057 | DNAH11 | c.2749G= (p.Glu917=) | |
| 7 | g.21599868G>T | CA366944189 | DNAH11 | c.2749G>T (p.Glu917Ter) | |
| 7 | g.21599869A= | CA1693579065 | DNAH11 | c.2750A= (p.Glu917=) | |
| 7 | g.21599869A>C | CA366944195 | DNAH11 | c.2750A>C (p.Glu917Ala) | |
| 7 | g.21599869A>G | CA366944196 | DNAH11 | c.2750A>G (p.Glu917Gly) | |
| 7 | g.21599869A>T | CA4179424 | DNAH11 | c.2750A>T (p.Glu917Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.21599870A>C | CA366944197 | DNAH11 | c.2751A>C (p.Glu917Asp) | |
| 7 | g.21599870A>G | CA453963448 | DNAH11 | c.2751A>G (p.Glu917=) | |
| 7 | g.21599870A>T | CA366944198 | DNAH11 | c.2751A>T (p.Glu917Asp) | |
| 7 | g.21599871G>A | CA366944199 | DNAH11 | c.2752G>A (p.Gly918Ser) | |
| 7 | g.21599871G>C | CA366944201 | DNAH11 | c.2752G>C (p.Gly918Arg) | |
| 7 | g.21599871G>T | CA366944203 | DNAH11 | c.2752G>T (p.Gly918Cys) | gnomAD v4 |
| 7 | g.21599872G>A | CA366944210 | DNAH11 | c.2753G>A (p.Gly918Asp) | |
| 7 | g.21599872G>C | CA366944207 | DNAH11 | c.2753G>C (p.Gly918Ala) | |
| 7 | g.21599872G>T | CA366944209 | DNAH11 | c.2753G>T (p.Gly918Val) | |
| 7 | g.21599873del | CA2681979424 | DNAH11 | c.2754del (p.Gln921ArgfsTer3) | gnomAD v4 |
| 7 | g.21599873C>A | CA453963452 | DNAH11 | c.2754C>A (p.Gly918=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21599873C= | CA1693579073 | DNAH11 | c.2754C= (p.Gly918=) | |
| 7 | g.21599873C>G | CA453963450 | DNAH11 | c.2754C>G (p.Gly918=) | gnomAD v4 |
| 7 | g.21599873C>T | CA453963451 | DNAH11 | c.2754C>T (p.Gly918=) | |
| 7 | g.21599874T>A | CA366944213 | DNAH11 | c.2755T>A (p.Phe919Ile) | |
| 7 | g.21599874T>C | CA366944216 | DNAH11 | c.2755T>C (p.Phe919Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21599874T>G | CA366944218 | DNAH11 | c.2755T>G (p.Phe919Val) | |
| 7 | g.21599874T= | CA1693579077 | DNAH11 | c.2755T= (p.Phe919=) | |
| 7 | g.21599879dup | CA2516382315 | DNAH11 | c.2760dup (p.Gln921SerfsTer?) | ClinVar |
| 7 | g.21599879del | CA2681979425 | DNAH11 | c.2760del (p.Gln921ArgfsTer3) | gnomAD v4 |
| 7 | g.21599875T>A | CA366944223 | DNAH11 | c.2756T>A (p.Phe919Tyr) | |
| 7 | g.21599875T>C | CA366944226 | DNAH11 | c.2756T>C (p.Phe919Ser) | |
| 7 | g.21599875T>G | CA366944227 | DNAH11 | c.2756T>G (p.Phe919Cys) | |
| 7 | g.21599876T>A | CA366944230 | DNAH11 | c.2757T>A (p.Phe919Leu) | |
| 7 | g.21599876T>C | CA453963453 | DNAH11 | c.2757T>C (p.Phe919=) | |
| 7 | g.21599876T>G | CA366944232 | DNAH11 | c.2757T>G (p.Phe919Leu) | |
| 7 | g.21599877T>A | CA366944234 | DNAH11 | c.2758T>A (p.Phe920Ile) | |
| 7 | g.21599877T>C | CA366944237 | DNAH11 | c.2758T>C (p.Phe920Leu) | |
| 7 | g.21599877T>G | CA366944238 | DNAH11 | c.2758T>G (p.Phe920Val) | |
| 7 | g.21599878T>A | CA366944242 | DNAH11 | c.2759T>A (p.Phe920Tyr) | gnomAD v4 |
| 7 | g.21599878T>C | CA366944244 | DNAH11 | c.2759T>C (p.Phe920Ser) | gnomAD v4 |
| 7 | g.21599878T>G | CA366944246 | DNAH11 | c.2759T>G (p.Phe920Cys) | |
| 7 | g.21599879T>A | CA366944249 | DNAH11 | c.2760T>A (p.Phe920Leu) | |
| 7 | g.21599879T>C | CA453963454 | DNAH11 | c.2760T>C (p.Phe920=) | gnomAD v4 |
| 7 | g.21599879T>G | CA366944252 | DNAH11 | c.2760T>G (p.Phe920Leu) | |
| 7 | g.21599880C>A | CA366944256 | DNAH11 | c.2761C>A (p.Gln921Lys) | |
| 7 | g.21599880C>G | CA366944260 | DNAH11 | c.2761C>G (p.Gln921Glu) | |
| 7 | g.21599880C>T | CA366944263 | DNAH11 | c.2761C>T (p.Gln921Ter) | |
| 7 | g.21599881A>C | CA366944265 | DNAH11 | c.2762A>C (p.Gln921Pro) | |
| 7 | g.21599881A>G | CA366944268 | DNAH11 | c.2762A>G (p.Gln921Arg) | gnomAD v4 |
| 7 | g.21599881A>T | CA366944271 | DNAH11 | c.2762A>T (p.Gln921Leu) | |
| 7 | g.21599882G>A | CA453963455 | DNAH11 | c.2763G>A (p.Gln921=) | dbSNP |
| 7 | g.21599882G>C | CA366944275 | DNAH11 | c.2763G>C (p.Gln921His) | |
| 7 | g.21599882G= | CA1693579081 | DNAH11 | c.2763G= (p.Gln921=) | |
| 7 | g.21599882G>T | CA366944274 | DNAH11 | c.2763G>T (p.Gln921His) | |
| 7 | g.21599883G>A | CA366944279 | DNAH11 | c.2764G>A (p.Ala922Thr) | gnomAD v4 |
| 7 | g.21599883G>C | CA366944281 | DNAH11 | c.2764G>C (p.Ala922Pro) | |
| 7 | g.21599883G>T | CA366944283 | DNAH11 | c.2764G>T (p.Ala922Ser) | |
| 7 | g.21599884C>A | CA366944284 | DNAH11 | c.2765C>A (p.Ala922Asp) | |
| 7 | g.21599884C>G | CA366944286 | DNAH11 | c.2765C>G (p.Ala922Gly) | |
| 7 | g.21599884C>T | CA366944290 | DNAH11 | c.2765C>T (p.Ala922Val) | |
| 7 | g.21599885T>A | CA453963458 | DNAH11 | c.2766T>A (p.Ala922=) | |
| 7 | g.21599885T>C | CA453963456 | DNAH11 | c.2766T>C (p.Ala922=) | |
| 7 | g.21599885T>G | CA453963457 | DNAH11 | c.2766T>G (p.Ala922=) | |
| 7 | g.21599886A= | CA1693579084 | DNAH11 | c.2767A= (p.Ile923=) | |
| 7 | g.21599886A>C | CA366944293 | DNAH11 | c.2767A>C (p.Ile923Leu) | gnomAD v4 |
| 7 | g.21599886A>G | CA4179425 | DNAH11 | c.2767A>G (p.Ile923Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599886A>T | CA366944302 | DNAH11 | c.2767A>T (p.Ile923Leu) | |
| 7 | g.21599887T>A | CA366944305 | DNAH11 | c.2768T>A (p.Ile923Lys) | |
| 7 | g.21599887T>C | CA4179426 | DNAH11 | c.2768T>C (p.Ile923Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21599887T>G | CA366944318 | DNAH11 | c.2768T>G (p.Ile923Arg) | |
| 7 | g.21599887T= | CA1693579087 | DNAH11 | c.2768T= (p.Ile923=) | |
| 7 | g.21599888A= | CA1693579089 | DNAH11 | c.2769A= (p.Ile923=) | |
| 7 | g.21599888A>C | CA453963459 | DNAH11 | c.2769A>C (p.Ile923=) | |
| 7 | g.21599888A>G | CA366944323 | DNAH11 | c.2769A>G (p.Ile923Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.21599888A>T | CA453963460 | DNAH11 | c.2769A>T (p.Ile923=) | |
| 7 | g.21599889A= | CA1693579091 | DNAH11 | c.2770A= (p.Met924=) | |
| 7 | g.21599889A>C | CA366944337 | DNAH11 | c.2770A>C (p.Met924Leu) | |
| 7 | g.21599889A>G | CA4179427 | DNAH11 | c.2770A>G (p.Met924Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21599889A>T | CA366944334 | DNAH11 | c.2770A>T (p.Met924Leu) | |
| 7 | g.21599890T>A | CA366944343 | DNAH11 | c.2771T>A (p.Met924Lys) | |
| 7 | g.21599890T>C | CA366944347 | DNAH11 | c.2771T>C (p.Met924Thr) | gnomAD v4 |
| 7 | g.21599890T>G | CA155087049 | DNAH11 | c.2771T>G (p.Met924Arg) | dbSNP |
| 7 | g.21599890T= | CA1693579094 | DNAH11 | c.2771T= (p.Met924=) | |
| 7 | g.21599891G>A | CA4179428 | DNAH11 | c.2772G>A (p.Met924Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.21599891G>C | CA366944350 | DNAH11 | c.2772G>C (p.Met924Ile) | |
| 7 | g.21599891G= | CA1693579098 | DNAH11 | c.2772G= (p.Met924=) | |
| 7 | g.21599891G>T | CA366944353 | DNAH11 | c.2772G>T (p.Met924Ile) | |
| 7 | g.21599892C>A | CA366944357 | DNAH11 | c.2773C>A (p.His925Asn) | |
| 7 | g.21599892C= | CA1693579103 | DNAH11 | c.2773C= (p.His925=) | |
| 7 | g.21599892C>G | CA366944359 | DNAH11 | c.2773C>G (p.His925Asp) | |
| 7 | g.21599892C>T | CA4179429 | DNAH11 | c.2773C>T (p.His925Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21599892_21599893insCTATAAGTCT | CA2578865524 | DNAH11 | c.2773_2774insCTATAAGTCT (p.His925ProfsTer33) | |
| 7 | g.21599893A= | CA1693579107 | DNAH11 | c.2774A= (p.His925=) | |
| 7 | g.21599893A>C | CA366944364 | DNAH11 | c.2774A>C (p.His925Pro) | |
| 7 | g.21599893A>G | CA4179431 | DNAH11 | c.2774A>G (p.His925Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599893A>T | CA4179430 | DNAH11 | c.2774A>T (p.His925Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21599894C>A | CA366944372 | DNAH11 | c.2775C>A (p.His925Gln) | |
| 7 | g.21599894C= | CA1693579112 | DNAH11 | c.2775C= (p.His925=) | |
| 7 | g.21599894C>G | CA366944374 | DNAH11 | c.2775C>G (p.His925Gln) | gnomAD v4 |
| 7 | g.21599894C>T | CA453963461 | DNAH11 | c.2775C>T (p.His925=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.21599895G>A | CA4179432 | DNAH11 | c.2776G>A (p.Asp926Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.21599895G>C | CA366944377 | DNAH11 | c.2776G>C (p.Asp926His) | |
| 7 | g.21599895G= | CA1693579119 | DNAH11 | c.2776G= (p.Asp926=) | |
| 7 | g.21599895G>T | CA155087057 | DNAH11 | c.2776G>T (p.Asp926Tyr) | dbSNP gnomAD v4 |
| 7 | g.21599896A>C | CA366944380 | DNAH11 | c.2777A>C (p.Asp926Ala) | |
| 7 | g.21599896A>G | CA366944381 | DNAH11 | c.2777A>G (p.Asp926Gly) | |
| 7 | g.21599896A>T | CA366944383 | DNAH11 | c.2777A>T (p.Asp926Val) | |
| 7 | g.21599897C>A | CA366944385 | DNAH11 | c.2778C>A (p.Asp926Glu) | |
| 7 | g.21599897C>G | CA366944387 | DNAH11 | c.2778C>G (p.Asp926Glu) | |
| 7 | g.21599897C>T | CA453963462 | DNAH11 | c.2778C>T (p.Asp926=) | |
| 7 | g.21599898T>A | CA366944390 | DNAH11 | c.2779T>A (p.Leu927Ile) | |
| 7 | g.21599898T>C | CA453963463 | DNAH11 | c.2779T>C (p.Leu927=) | |
| 7 | g.21599898T>G | CA366944391 | DNAH11 | c.2779T>G (p.Leu927Val) | dbSNP |
| 7 | g.21599898T= | CA1693579124 | DNAH11 | c.2779T= (p.Leu927=) | |
| 7 | g.21599899T>A | CA366944394 | DNAH11 | c.2780T>A (p.Leu927Ter) | |
| 7 | g.21599899T>C | CA366944395 | DNAH11 | c.2780T>C (p.Leu927Ser) | |
| 7 | g.21599899T>G | CA366944397 | DNAH11 | c.2780T>G (p.Leu927Ter) | gnomAD v4 |
| 7 | g.21599900A= | CA1693579125 | DNAH11 | c.2781A= (p.Leu927=) | |
| 7 | g.21599900A>C | CA366944398 | DNAH11 | c.2781A>C (p.Leu927Phe) | |
| 7 | g.21599900A>G | CA155087059 | DNAH11 | c.2781A>G (p.Leu927=) | dbSNP gnomAD v4 |
| 7 | g.21599900A>T | CA366944399 | DNAH11 | c.2781A>T (p.Leu927Phe) | gnomAD v4 |
| 7 | g.21599901G>A | CA366944402 | DNAH11 | c.2782G>A (p.Asp928Asn) | |
| 7 | g.21599901G>C | CA366944401 | DNAH11 | c.2782G>C (p.Asp928His) | |
| 7 | g.21599901G>T | CA366944400 | DNAH11 | c.2782G>T (p.Asp928Tyr) | gnomAD v4 |
| 7 | g.21599902A= | CA1693579129 | DNAH11 | c.2783A= (p.Asp928=) | |
| 7 | g.21599902A>C | CA366944403 | DNAH11 | c.2783A>C (p.Asp928Ala) | |
| 7 | g.21599902A>G | CA4179434 | DNAH11 | c.2783A>G (p.Asp928Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599902A>T | CA4179433 | DNAH11 | c.2783A>T (p.Asp928Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599903C>A | CA366944404 | DNAH11 | c.2784C>A (p.Asp928Glu) | |
| 7 | g.21599903C= | CA1693579132 | DNAH11 | c.2784C= (p.Asp928=) | |
| 7 | g.21599903C>G | CA366944405 | DNAH11 | c.2784C>G (p.Asp928Glu) | |
| 7 | g.21599903C>T | CA453963464 | DNAH11 | c.2784C>T (p.Asp928=) | ClinVar dbSNP |
| 7 | g.21599904T>A | CA4179435 | DNAH11 | c.2785T>A (p.Phe929Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.21599904T>C | CA366944406 | DNAH11 | c.2785T>C (p.Phe929Leu) | |
| 7 | g.21599904T>G | CA366944407 | DNAH11 | c.2785T>G (p.Phe929Val) | |
| 7 | g.21599904T= | CA1693579136 | DNAH11 | c.2785T= (p.Phe929=) | |
| 7 | g.21599905T>A | CA366944408 | DNAH11 | c.2786T>A (p.Phe929Tyr) | |
| 7 | g.21599905T>C | CA366944409 | DNAH11 | c.2786T>C (p.Phe929Ser) | |
| 7 | g.21599905T>G | CA366944410 | DNAH11 | c.2786T>G (p.Phe929Cys) | |
| 7 | g.21599906C>A | CA366944411 | DNAH11 | c.2787C>A (p.Phe929Leu) | |
| 7 | g.21599906C= | CA1693579140 | DNAH11 | c.2787C= (p.Phe929=) | |
| 7 | g.21599906C>G | CA4179436 | DNAH11 | c.2787C>G (p.Phe929Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599906C>T | CA453963465 | DNAH11 | c.2787C>T (p.Phe929=) | gnomAD v4 |
| 7 | g.21599907T>A | CA366944414 | DNAH11 | c.2788T>A (p.Phe930Ile) | |
| 7 | g.21599907T>C | CA366944413 | DNAH11 | c.2788T>C (p.Phe930Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21599907T>G | CA366944412 | DNAH11 | c.2788T>G (p.Phe930Val) | |
| 7 | g.21599907T= | CA1693579143 | DNAH11 | c.2788T= (p.Phe930=) | |
| 7 | g.21599908T>A | CA366944415 | DNAH11 | c.2789T>A (p.Phe930Tyr) | dbSNP |
| 7 | g.21599908T>C | CA366944416 | DNAH11 | c.2789T>C (p.Phe930Ser) | |
| 7 | g.21599908T>G | CA366944417 | DNAH11 | c.2789T>G (p.Phe930Cys) | |
| 7 | g.21599908T= | CA1693579149 | DNAH11 | c.2789T= (p.Phe930=) | |
| 7 | g.21599909T>A | CA366944418 | DNAH11 | c.2790T>A (p.Phe930Leu) | |
| 7 | g.21599909T>C | CA453963466 | DNAH11 | c.2790T>C (p.Phe930=) | |
| 7 | g.21599909T>G | CA366944419 | DNAH11 | c.2790T>G (p.Phe930Leu) | |
| 7 | g.21599910C>A | CA366944420 | DNAH11 | c.2791C>A (p.Leu931Met) | |
| 7 | g.21599910C>G | CA366944421 | DNAH11 | c.2791C>G (p.Leu931Val) | |
| 7 | g.21599910C>T | CA453963467 | DNAH11 | c.2791C>T (p.Leu931=) | ClinVar |
| 7 | g.21599911T>A | CA366944422 | DNAH11 | c.2792T>A (p.Leu931Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21599911T>C | CA366944423 | DNAH11 | c.2792T>C (p.Leu931Pro) | |
| 7 | g.21599911T>G | CA366944424 | DNAH11 | c.2792T>G (p.Leu931Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599911T= | CA1693579152 | DNAH11 | c.2792T= (p.Leu931=) | |
| 7 | g.21599912G>A | CA453963468 | DNAH11 | c.2793G>A (p.Leu931=) | |
| 7 | g.21599912G>C | CA453963469 | DNAH11 | c.2793G>C (p.Leu931=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21599912G= | CA1693579155 | DNAH11 | c.2793G= (p.Leu931=) | |
| 7 | g.21599912G>T | CA453963470 | DNAH11 | c.2793G>T (p.Leu931=) | |
| 7 | g.21599913A= | CA1693579161 | DNAH11 | c.2794A= (p.Lys932=) | |
| 7 | g.21599913A>C | CA366944425 | DNAH11 | c.2794A>C (p.Lys932Gln) | |
| 7 | g.21599913A>G | CA155087079 | DNAH11 | c.2794A>G (p.Lys932Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21599913A>T | CA366944426 | DNAH11 | c.2794A>T (p.Lys932Ter) | |
| 7 | g.21599914A= | CA1693579165 | DNAH11 | c.2795A= (p.Lys932=) | |
| 7 | g.21599914A>C | CA366944427 | DNAH11 | c.2795A>C (p.Lys932Thr) | |
| 7 | g.21599914A>G | CA366944428 | DNAH11 | c.2795A>G (p.Lys932Arg) | |
| 7 | g.21599914A>T | CA155087083 | DNAH11 | c.2795A>T (p.Lys932Met) | ClinVar dbSNP |
| 7 | g.21599915G>A | CA4179437 | DNAH11 | c.2796G>A (p.Lys932=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21599915G>C | CA366944430 | DNAH11 | c.2796G>C (p.Lys932Asn) | |
| 7 | g.21599915G= | CA1693579169 | DNAH11 | c.2796G= (p.Lys932=) | |
| 7 | g.21599915G>T | CA366944429 | DNAH11 | c.2796G>T (p.Lys932Asn) | |
| 7 | g.21599916A>C | CA366944431 | DNAH11 | c.2797A>C (p.Asn933His) | gnomAD v4 |
| 7 | g.21599916A>G | CA366944433 | DNAH11 | c.2797A>G (p.Asn933Asp) | |
| 7 | g.21599916A>T | CA366944432 | DNAH11 | c.2797A>T (p.Asn933Tyr) | |
| 7 | g.21599917A= | CA1693579176 | DNAH11 | c.2798A= (p.Asn933=) | |
| 7 | g.21599917A>C | CA366944434 | DNAH11 | c.2798A>C (p.Asn933Thr) | |
| 7 | g.21599917A>G | CA4179438 | DNAH11 | c.2798A>G (p.Asn933Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21599917A>T | CA366944435 | DNAH11 | c.2798A>T (p.Asn933Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21599918T>A | CA366944436 | DNAH11 | c.2799T>A (p.Asn933Lys) | |
| 7 | g.21599918T>C | CA453963471 | DNAH11 | c.2799T>C (p.Asn933=) | |
| 7 | g.21599918T>G | CA366944437 | DNAH11 | c.2799T>G (p.Asn933Lys) | |
| 7 | g.21599919A= | CA1693579181 | DNAH11 | c.2800A= (p.Thr934=) | |
| 7 | g.21599919A>C | CA366944438 | DNAH11 | c.2800A>C (p.Thr934Pro) | |
| 7 | g.21599919A>G | CA366944439 | DNAH11 | c.2800A>G (p.Thr934Ala) | gnomAD v4 |
| 7 | g.21599919A>T | CA155087091 | DNAH11 | c.2800A>T (p.Thr934Ser) | dbSNP |
| 7 | g.21599920C>A | CA366944440 | DNAH11 | c.2801C>A (p.Thr934Lys) | |
| 7 | g.21599920C= | CA1693579187 | DNAH11 | c.2801C= (p.Thr934=) | |
| 7 | g.21599920C>G | CA366944441 | DNAH11 | c.2801C>G (p.Thr934Arg) | |
| 7 | g.21599920C>T | CA366944442 | DNAH11 | c.2801C>T (p.Thr934Ile) | dbSNP |
| 7 | g.21599920_21599921delinsCA | CA1693579185 | DNAH11 | c.2801_2802delinsCA (p.Thr934=) | |
| 7 | g.21599921del | CA4179439 | DNAH11 | c.2802del (p.Glu935ArgfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21599921A= | CA1693579199 | DNAH11 | c.2802A= (p.Thr934=) | |
| 7 | g.21599921A>C | CA453963473 | DNAH11 | c.2802A>C (p.Thr934=) | |
| 7 | g.21599921A>G | CA4179440 | DNAH11 | c.2802A>G (p.Thr934=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599921A>T | CA453963474 | DNAH11 | c.2802A>T (p.Thr934=) | |
| 7 | g.21599922G>A | CA366944443 | DNAH11 | c.2803G>A (p.Glu935Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599922G>C | CA366944444 | DNAH11 | c.2803G>C (p.Glu935Gln) | |
| 7 | g.21599922G= | CA1693579202 | DNAH11 | c.2803G= (p.Glu935=) | |
| 7 | g.21599922G>T | CA366944445 | DNAH11 | c.2803G>T (p.Glu935Ter) | |
| 7 | g.21599923A>C | CA366944446 | DNAH11 | c.2804A>C (p.Glu935Ala) | |
| 7 | g.21599923A>G | CA366944447 | DNAH11 | c.2804A>G (p.Glu935Gly) | gnomAD v4 COSMIC |
| 7 | g.21599923A>T | CA366944448 | DNAH11 | c.2804A>T (p.Glu935Val) | gnomAD v4 |
| 7 | g.21599924G>A | CA453963475 | DNAH11 | c.2805G>A (p.Glu935=) | |
| 7 | g.21599924G>C | CA366944449 | DNAH11 | c.2805G>C (p.Glu935Asp) | |
| 7 | g.21599924G>T | CA366944450 | DNAH11 | c.2805G>T (p.Glu935Asp) | COSMIC COSMIC |
| 7 | g.21599924_21599925delinsGA | CA1693579205 | DNAH11 | c.2805_2806delinsGA (p.Glu935=) | |
| 7 | g.21599925A>C | CA366944451 | DNAH11 | c.2806A>C (p.Lys936Gln) | |
| 7 | g.21599925A>G | CA366944452 | DNAH11 | c.2806A>G (p.Lys936Glu) | |
| 7 | g.21599925A>T | CA366944453 | DNAH11 | c.2806A>T (p.Lys936Ter) | |
| 7 | g.21599927del | CA1693579207 | DNAH11 | c.2808del (p.Lys936AsnfsTer3) | dbSNP |
| 7 | g.21599926A>C | CA366944456 | DNAH11 | c.2807A>C (p.Lys936Thr) | |
| 7 | g.21599926A>G | CA366944455 | DNAH11 | c.2807A>G (p.Lys936Arg) | gnomAD v4 |
| 7 | g.21599926A>T | CA366944454 | DNAH11 | c.2807A>T (p.Lys936Ile) | |
| 7 | g.21599927A>C | CA366944457 | DNAH11 | c.2808A>C (p.Lys936Asn) | |
| 7 | g.21599927A>G | CA453963476 | DNAH11 | c.2808A>G (p.Lys936=) | dbSNP gnomAD v4 |
| 7 | g.21599927A>T | CA366944458 | DNAH11 | c.2808A>T (p.Lys936Asn) | |
| 7 | g.21599928C>A | CA366944459 | DNAH11 | c.2809C>A (p.Gln937Lys) | |
| 7 | g.21599928C>G | CA366944460 | DNAH11 | c.2809C>G (p.Gln937Glu) | COSMIC COSMIC |
| 7 | g.21599928C>T | CA366944461 | DNAH11 | c.2809C>T (p.Gln937Ter) | |
| 7 | g.21599929A= | CA1693579210 | DNAH11 | c.2810A= (p.Gln937=) | |
| 7 | g.21599929A>C | CA366944462 | DNAH11 | c.2810A>C (p.Gln937Pro) | gnomAD v4 |
| 7 | g.21599929A>G | CA4179441 | DNAH11 | c.2810A>G (p.Gln937Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21599929A>T | CA366944463 | DNAH11 | c.2810A>T (p.Gln937Leu) | |
| 7 | g.21599930A= | CA1693579216 | DNAH11 | c.2811A= (p.Gln937=) | |
| 7 | g.21599930A>C | CA366944464 | DNAH11 | c.2811A>C (p.Gln937His) | |
| 7 | g.21599930A>G | CA4179442 | DNAH11 | c.2811A>G (p.Gln937=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599930A>T | CA366944465 | DNAH11 | c.2811A>T (p.Gln937His) | |
| 7 | g.21599931T>A | CA366944466 | DNAH11 | c.2812T>A (p.Leu938Met) | |
| 7 | g.21599931T>C | CA453963477 | DNAH11 | c.2812T>C (p.Leu938=) | dbSNP |
| 7 | g.21599931T>G | CA366944467 | DNAH11 | c.2812T>G (p.Leu938Val) | |
| 7 | g.21599931T= | CA1693579218 | DNAH11 | c.2812T= (p.Leu938=) | |
| 7 | g.21599932T>A | CA366944468 | DNAH11 | c.2813T>A (p.Leu938Ter) | |
| 7 | g.21599932T>C | CA366944470 | DNAH11 | c.2813T>C (p.Leu938Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599932T>G | CA366944469 | DNAH11 | c.2813T>G (p.Leu938Trp) | |
| 7 | g.21599932T= | CA1693579221 | DNAH11 | c.2813T= (p.Leu938=) | |
| 7 | g.21599933G>A | CA453963478 | DNAH11 | c.2814G>A (p.Leu938=) | gnomAD v4 |
| 7 | g.21599933G>C | CA366944471 | DNAH11 | c.2814G>C (p.Leu938Phe) | |
| 7 | g.21599933G>T | CA366944472 | DNAH11 | c.2814G>T (p.Leu938Phe) | gnomAD v4 COSMIC COSMIC |
| 7 | g.21599934A>C | CA366944473 | DNAH11 | c.2815A>C (p.Lys939Gln) | |
| 7 | g.21599934A>G | CA366944474 | DNAH11 | c.2815A>G (p.Lys939Glu) | |
| 7 | g.21599934A>T | CA366944475 | DNAH11 | c.2815A>T (p.Lys939Ter) | |
| 7 | g.21599935A= | CA1693579223 | DNAH11 | c.2816A= (p.Lys939=) | |
| 7 | g.21599935A>C | CA366944476 | DNAH11 | c.2816A>C (p.Lys939Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599935A>G | CA366944477 | DNAH11 | c.2816A>G (p.Lys939Arg) | |
| 7 | g.21599935A>T | CA366944478 | DNAH11 | c.2816A>T (p.Lys939Ile) | |
| 7 | g.21599936A= | CA1693579224 | DNAH11 | c.2817A= (p.Lys939=) | |
| 7 | g.21599936A>C | CA366944479 | DNAH11 | c.2817A>C (p.Lys939Asn) | |
| 7 | g.21599936A>G | CA453963479 | DNAH11 | c.2817A>G (p.Lys939=) | dbSNP |
| 7 | g.21599936A>T | CA366944480 | DNAH11 | c.2817A>T (p.Lys939Asn) | |
| 7 | g.21599937C>A | CA366944482 | DNAH11 | c.2818C>A (p.Pro940Thr) | |
| 7 | g.21599937C>G | CA366944483 | DNAH11 | c.2818C>G (p.Pro940Ala) | |
| 7 | g.21599937C>T | CA366944481 | DNAH11 | c.2818C>T (p.Pro940Ser) | |
| 7 | g.21599938C>A | CA366944485 | DNAH11 | c.2819C>A (p.Pro940Gln) | dbSNP gnomAD v2 |
| 7 | g.21599938C= | CA1693579226 | DNAH11 | c.2819C= (p.Pro940=) | |
| 7 | g.21599938C>G | CA366944484 | DNAH11 | c.2819C>G (p.Pro940Arg) | |
| 7 | g.21599938C>T | CA4179443 | DNAH11 | c.2819C>T (p.Pro940Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599939G>A | CA4179445 | DNAH11 | c.2820G>A (p.Pro940=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599939G>C | CA453963480 | DNAH11 | c.2820G>C (p.Pro940=) | |
| 7 | g.21599939G= | CA1693579231 | DNAH11 | c.2820G= (p.Pro940=) | |
| 7 | g.21599939G>T | CA4179444 | DNAH11 | c.2820G>T (p.Pro940=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599940G>A | CA366944486 | DNAH11 | c.2821G>A (p.Ala941Thr) | COSMIC COSMIC |
| 7 | g.21599940G>C | CA366944487 | DNAH11 | c.2821G>C (p.Ala941Pro) | |
| 7 | g.21599940G>T | CA366944488 | DNAH11 | c.2821G>T (p.Ala941Ser) | |
| 7 | g.21599941C>A | CA366944489 | DNAH11 | c.2822C>A (p.Ala941Glu) | |
| 7 | g.21599941C>G | CA366944490 | DNAH11 | c.2822C>G (p.Ala941Gly) | |
| 7 | g.21599941C>T | CA366944491 | DNAH11 | c.2822C>T (p.Ala941Val) | |
| 7 | g.21599942A>C | CA453963481 | DNAH11 | c.2823A>C (p.Ala941=) | |
| 7 | g.21599942A>G | CA453963482 | DNAH11 | c.2823A>G (p.Ala941=) | |
| 7 | g.21599942A>T | CA453963483 | DNAH11 | c.2823A>T (p.Ala941=) | |
| 7 | g.21599943C>A | CA4179446 | DNAH11 | c.2824C>A (p.Pro942Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599943C= | CA1693579238 | DNAH11 | c.2824C= (p.Pro942=) | |
| 7 | g.21599943C>G | CA366944492 | DNAH11 | c.2824C>G (p.Pro942Ala) | |
| 7 | g.21599943C>T | CA366944493 | DNAH11 | c.2824C>T (p.Pro942Ser) | gnomAD v4 |
| 7 | g.21599944C>A | CA366944495 | DNAH11 | c.2825C>A (p.Pro942Gln) | |
| 7 | g.21599944C= | CA1693579242 | DNAH11 | c.2825C= (p.Pro942=) | |
| 7 | g.21599944C>G | CA366944494 | DNAH11 | c.2825C>G (p.Pro942Arg) | |
| 7 | g.21599944C>T | CA155087119 | DNAH11 | c.2825C>T (p.Pro942Leu) | dbSNP gnomAD v4 |
| 7 | g.21599945G>A | CA4179447 | DNAH11 | c.2826G>A (p.Pro942=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.21599945G>C | CA453963484 | DNAH11 | c.2826G>C (p.Pro942=) | |
| 7 | g.21599945G= | CA1693579248 | DNAH11 | c.2826G= (p.Pro942=) | |
| 7 | g.21599945G>T | CA453963485 | DNAH11 | c.2826G>T (p.Pro942=) | |
| 7 | g.21599946T>A | CA366944496 | DNAH11 | c.2827T>A (p.Phe943Ile) | dbSNP |
| 7 | g.21599946T>C | CA366944497 | DNAH11 | c.2827T>C (p.Phe943Leu) | gnomAD v4 COSMIC COSMIC |
| 7 | g.21599946T>G | CA366944498 | DNAH11 | c.2827T>G (p.Phe943Val) | |
| 7 | g.21599946T= | CA1693579252 | DNAH11 | c.2827T= (p.Phe943=) | |
| 7 | g.21599951dup | CA2497030068 | DNAH11 | c.2832dup (p.Gln945SerfsTer10) | gnomAD v4 |
| 7 | g.21599947T>A | CA366944499 | DNAH11 | c.2828T>A (p.Phe943Tyr) | dbSNP gnomAD v4 |
| 7 | g.21599947T>C | CA366944500 | DNAH11 | c.2828T>C (p.Phe943Ser) | |
| 7 | g.21599947T>G | CA155087125 | DNAH11 | c.2828T>G (p.Phe943Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599947T= | CA1693579258 | DNAH11 | c.2828T= (p.Phe943=) | |
| 7 | g.21599948T>A | CA366944501 | DNAH11 | c.2829T>A (p.Phe943Leu) | |
| 7 | g.21599948T>C | CA453963486 | DNAH11 | c.2829T>C (p.Phe943=) | |
| 7 | g.21599948T>G | CA4179448 | DNAH11 | c.2829T>G (p.Phe943Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599948T= | CA1693579262 | DNAH11 | c.2829T= (p.Phe943=) | |
| 7 | g.21599949T>A | CA366944502 | DNAH11 | c.2830T>A (p.Phe944Ile) | |
| 7 | g.21599949T>C | CA4179449 | DNAH11 | c.2830T>C (p.Phe944Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.21599949T>G | CA366944503 | DNAH11 | c.2830T>G (p.Phe944Val) | |
| 7 | g.21599949T= | CA1693579264 | DNAH11 | c.2830T= (p.Phe944=) | |
| 7 | g.21599950T>A | CA366944506 | DNAH11 | c.2831T>A (p.Phe944Tyr) | |
| 7 | g.21599950T>C | CA366944505 | DNAH11 | c.2831T>C (p.Phe944Ser) | |
| 7 | g.21599950T>G | CA366944504 | DNAH11 | c.2831T>G (p.Phe944Cys) | |
| 7 | g.21599951T>A | CA366944507 | DNAH11 | c.2832T>A (p.Phe944Leu) | |
| 7 | g.21599951T>C | CA453963487 | DNAH11 | c.2832T>C (p.Phe944=) | |
| 7 | g.21599951T>G | CA366944508 | DNAH11 | c.2832T>G (p.Phe944Leu) | |
| 7 | g.21599952C>A | CA366944509 | DNAH11 | c.2833C>A (p.Gln945Lys) | |
| 7 | g.21599952C>G | CA366944510 | DNAH11 | c.2833C>G (p.Gln945Glu) | |
| 7 | g.21599952C>T | CA366944511 | DNAH11 | c.2833C>T (p.Gln945Ter) | |
| 7 | g.21599953A= | CA1693579266 | DNAH11 | c.2834A= (p.Gln945=) | |
| 7 | g.21599953A>C | CA366944513 | DNAH11 | c.2834A>C (p.Gln945Pro) | |
| 7 | g.21599953A>G | CA4179450 | DNAH11 | c.2834A>G (p.Gln945Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599953A>T | CA366944512 | DNAH11 | c.2834A>T (p.Gln945Leu) | |
| 7 | g.21599954A= | CA1693579271 | DNAH11 | c.2835A= (p.Gln945=) | |
| 7 | g.21599954A>C | CA366944514 | DNAH11 | c.2835A>C (p.Gln945His) | |
| 7 | g.21599954A>G | CA147207 | DNAH11 | c.2835A>G (p.Gln945=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.21599954A>T | CA366944515 | DNAH11 | c.2835A>T (p.Gln945His) |