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.13792028A= | CA1528440935 | DNAH5 | c.8414T= (p.Leu2805=) c.8369T= (p.Leu2790=) n.8621T= c.8522T= (p.Leu2841=) c.7427T= (p.Leu2476=) c.3611T= (p.Leu1204=) c.3164T= (p.Leu1055=) c.2501T= (p.Leu834=) c.7016T= (p.Leu2339=) n.8539T= | |
| 5 | g.13792028A>C | CA359218879 | DNAH5 | c.8414T>G (p.Leu2805Arg) c.8369T>G (p.Leu2790Arg) n.8621T>G c.8522T>G (p.Leu2841Arg) c.7427T>G (p.Leu2476Arg) c.3611T>G (p.Leu1204Arg) c.3164T>G (p.Leu1055Arg) c.2501T>G (p.Leu834Arg) c.7016T>G (p.Leu2339Arg) n.8539T>G | COSMIC |
| 5 | g.13792028A>G | CA359218874 | DNAH5 | c.8414T>C (p.Leu2805Pro) c.8369T>C (p.Leu2790Pro) n.8621T>C c.8522T>C (p.Leu2841Pro) c.7427T>C (p.Leu2476Pro) c.3611T>C (p.Leu1204Pro) c.3164T>C (p.Leu1055Pro) c.2501T>C (p.Leu834Pro) c.7016T>C (p.Leu2339Pro) n.8539T>C | dbSNP |
| 5 | g.13792028A>T | CA359218876 | DNAH5 | c.8414T>A (p.Leu2805Gln) c.8369T>A (p.Leu2790Gln) n.8621T>A c.8522T>A (p.Leu2841Gln) c.7427T>A (p.Leu2476Gln) c.3611T>A (p.Leu1204Gln) c.3164T>A (p.Leu1055Gln) c.2501T>A (p.Leu834Gln) c.7016T>A (p.Leu2339Gln) n.8539T>A | |
| 5 | g.13792029G>A | CA443263386 | DNAH5 | c.8413C>T (p.Leu2805=) c.8368C>T (p.Leu2790=) n.8620C>T c.8521C>T (p.Leu2841=) c.7426C>T (p.Leu2476=) c.3610C>T (p.Leu1204=) c.3163C>T (p.Leu1055=) c.2500C>T (p.Leu834=) c.7015C>T (p.Leu2339=) n.8538C>T | |
| 5 | g.13792029G>C | CA359218887 | DNAH5 | c.8413C>G (p.Leu2805Val) c.8368C>G (p.Leu2790Val) n.8620C>G c.8521C>G (p.Leu2841Val) c.7426C>G (p.Leu2476Val) c.3610C>G (p.Leu1204Val) c.3163C>G (p.Leu1055Val) c.2500C>G (p.Leu834Val) c.7015C>G (p.Leu2339Val) n.8538C>G | |
| 5 | g.13792029G>T | CA359218889 | DNAH5 | c.8413C>A (p.Leu2805Met) c.8368C>A (p.Leu2790Met) n.8620C>A c.8521C>A (p.Leu2841Met) c.7426C>A (p.Leu2476Met) c.3610C>A (p.Leu1204Met) c.3163C>A (p.Leu1055Met) c.2500C>A (p.Leu834Met) c.7015C>A (p.Leu2339Met) n.8538C>A | |
| 5 | g.13792030C>A | CA359218892 | DNAH5 | c.8412G>T (p.Met2804Ile) c.8367G>T (p.Met2789Ile) n.8619G>T c.8520G>T (p.Met2840Ile) c.7425G>T (p.Met2475Ile) c.3609G>T (p.Met1203Ile) c.3162G>T (p.Met1054Ile) c.2499G>T (p.Met833Ile) c.7014G>T (p.Met2338Ile) n.8537G>T | |
| 5 | g.13792030C= | CA1528440936 | DNAH5 | c.8412G= (p.Met2804=) c.8367G= (p.Met2789=) n.8619G= c.8520G= (p.Met2840=) c.7425G= (p.Met2475=) c.3609G= (p.Met1203=) c.3162G= (p.Met1054=) c.2499G= (p.Met833=) c.7014G= (p.Met2338=) n.8537G= | |
| 5 | g.13792030C>G | CA359218895 | DNAH5 | c.8412G>C (p.Met2804Ile) c.8367G>C (p.Met2789Ile) n.8619G>C c.8520G>C (p.Met2840Ile) c.7425G>C (p.Met2475Ile) c.3609G>C (p.Met1203Ile) c.3162G>C (p.Met1054Ile) c.2499G>C (p.Met833Ile) c.7014G>C (p.Met2338Ile) n.8537G>C | |
| 5 | g.13792030C>T | CA3202830 | DNAH5 | c.8412G>A (p.Met2804Ile) c.8367G>A (p.Met2789Ile) n.8619G>A c.8520G>A (p.Met2840Ile) c.7425G>A (p.Met2475Ile) c.3609G>A (p.Met1203Ile) c.3162G>A (p.Met1054Ile) c.2499G>A (p.Met833Ile) c.7014G>A (p.Met2338Ile) n.8537G>A | dbSNP ExAC gnomAD v2 |
| 5 | g.13792031A>C | CA359218902 | DNAH5 | c.8411T>G (p.Met2804Arg) c.8366T>G (p.Met2789Arg) n.8618T>G c.8519T>G (p.Met2840Arg) c.7424T>G (p.Met2475Arg) c.3608T>G (p.Met1203Arg) c.3161T>G (p.Met1054Arg) c.2498T>G (p.Met833Arg) c.7013T>G (p.Met2338Arg) n.8536T>G | |
| 5 | g.13792031A>G | CA359218905 | DNAH5 | c.8411T>C (p.Met2804Thr) c.8366T>C (p.Met2789Thr) n.8618T>C c.8519T>C (p.Met2840Thr) c.7424T>C (p.Met2475Thr) c.3608T>C (p.Met1203Thr) c.3161T>C (p.Met1054Thr) c.2498T>C (p.Met833Thr) c.7013T>C (p.Met2338Thr) n.8536T>C | |
| 5 | g.13792031A>T | CA359218907 | DNAH5 | c.8411T>A (p.Met2804Lys) c.8366T>A (p.Met2789Lys) n.8618T>A c.8519T>A (p.Met2840Lys) c.7424T>A (p.Met2475Lys) c.3608T>A (p.Met1203Lys) c.3161T>A (p.Met1054Lys) c.2498T>A (p.Met833Lys) c.7013T>A (p.Met2338Lys) n.8536T>A | |
| 5 | g.13792032T>A | CA359218909 | DNAH5 | c.8410A>T (p.Met2804Leu) c.8365A>T (p.Met2789Leu) n.8617A>T c.8518A>T (p.Met2840Leu) c.7423A>T (p.Met2475Leu) c.3607A>T (p.Met1203Leu) c.3160A>T (p.Met1054Leu) c.2497A>T (p.Met833Leu) c.7012A>T (p.Met2338Leu) n.8535A>T | gnomAD v4 |
| 5 | g.13792032T>C | CA3202831 | DNAH5 | c.8410A>G (p.Met2804Val) c.8365A>G (p.Met2789Val) n.8617A>G c.8518A>G (p.Met2840Val) c.7423A>G (p.Met2475Val) c.3607A>G (p.Met1203Val) c.3160A>G (p.Met1054Val) c.2497A>G (p.Met833Val) c.7012A>G (p.Met2338Val) n.8535A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13792032T>G | CA359218915 | DNAH5 | c.8410A>C (p.Met2804Leu) c.8365A>C (p.Met2789Leu) n.8617A>C c.8518A>C (p.Met2840Leu) c.7423A>C (p.Met2475Leu) c.3607A>C (p.Met1203Leu) c.3160A>C (p.Met1054Leu) c.2497A>C (p.Met833Leu) c.7012A>C (p.Met2338Leu) n.8535A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13792032T= | CA1528440937 | DNAH5 | c.8410A= (p.Met2804=) c.8365A= (p.Met2789=) n.8617A= c.8518A= (p.Met2840=) c.7423A= (p.Met2475=) c.3607A= (p.Met1203=) c.3160A= (p.Met1054=) c.2497A= (p.Met833=) c.7012A= (p.Met2338=) n.8535A= | |
| 5 | g.13792033T>A | CA443263389 | DNAH5 | c.8409A>T (p.Gly2803=) c.8364A>T (p.Gly2788=) n.8616A>T c.8517A>T (p.Gly2839=) c.7422A>T (p.Gly2474=) c.3606A>T (p.Gly1202=) c.3159A>T (p.Gly1053=) c.2496A>T (p.Gly832=) c.7011A>T (p.Gly2337=) n.8534A>T | |
| 5 | g.13792033T>C | CA443263390 | DNAH5 | c.8409A>G (p.Gly2803=) c.8364A>G (p.Gly2788=) n.8616A>G c.8517A>G (p.Gly2839=) c.7422A>G (p.Gly2474=) c.3606A>G (p.Gly1202=) c.3159A>G (p.Gly1053=) c.2496A>G (p.Gly832=) c.7011A>G (p.Gly2337=) n.8534A>G | ClinVar dbSNP |
| 5 | g.13792033T>G | CA443263391 | DNAH5 | c.8409A>C (p.Gly2803=) c.8364A>C (p.Gly2788=) n.8616A>C c.8517A>C (p.Gly2839=) c.7422A>C (p.Gly2474=) c.3606A>C (p.Gly1202=) c.3159A>C (p.Gly1053=) c.2496A>C (p.Gly832=) c.7011A>C (p.Gly2337=) n.8534A>C | |
| 5 | g.13792034C>A | CA359218921 | DNAH5 | c.8408G>T (p.Gly2803Val) c.8363G>T (p.Gly2788Val) n.8615G>T c.8516G>T (p.Gly2839Val) c.7421G>T (p.Gly2474Val) c.3605G>T (p.Gly1202Val) c.3158G>T (p.Gly1053Val) c.2495G>T (p.Gly832Val) c.7010G>T (p.Gly2337Val) n.8533G>T | |
| 5 | g.13792034C>G | CA359218928 | DNAH5 | c.8408G>C (p.Gly2803Ala) c.8363G>C (p.Gly2788Ala) n.8615G>C c.8516G>C (p.Gly2839Ala) c.7421G>C (p.Gly2474Ala) c.3605G>C (p.Gly1202Ala) c.3158G>C (p.Gly1053Ala) c.2495G>C (p.Gly832Ala) c.7010G>C (p.Gly2337Ala) n.8533G>C | |
| 5 | g.13792034C>T | CA359218918 | DNAH5 | c.8408G>A (p.Gly2803Glu) c.8363G>A (p.Gly2788Glu) n.8615G>A c.8516G>A (p.Gly2839Glu) c.7421G>A (p.Gly2474Glu) c.3605G>A (p.Gly1202Glu) c.3158G>A (p.Gly1053Glu) c.2495G>A (p.Gly832Glu) c.7010G>A (p.Gly2337Glu) n.8533G>A | gnomAD v4 |
| 5 | g.13792035C>A | CA359218930 | DNAH5 | c.8407G>T (p.Gly2803Ter) c.8362G>T (p.Gly2788Ter) n.8614G>T c.8515G>T (p.Gly2839Ter) c.7420G>T (p.Gly2474Ter) c.3604G>T (p.Gly1202Ter) c.3157G>T (p.Gly1053Ter) c.2494G>T (p.Gly832Ter) c.7009G>T (p.Gly2337Ter) n.8532G>T | |
| 5 | g.13792035C>G | CA359218932 | DNAH5 | c.8407G>C (p.Gly2803Arg) c.8362G>C (p.Gly2788Arg) n.8614G>C c.8515G>C (p.Gly2839Arg) c.7420G>C (p.Gly2474Arg) c.3604G>C (p.Gly1202Arg) c.3157G>C (p.Gly1053Arg) c.2494G>C (p.Gly832Arg) c.7009G>C (p.Gly2337Arg) n.8532G>C | |
| 5 | g.13792035C>T | CA359218935 | DNAH5 | c.8407G>A (p.Gly2803Arg) c.8362G>A (p.Gly2788Arg) n.8614G>A c.8515G>A (p.Gly2839Arg) c.7420G>A (p.Gly2474Arg) c.3604G>A (p.Gly1202Arg) c.3157G>A (p.Gly1053Arg) c.2494G>A (p.Gly832Arg) c.7009G>A (p.Gly2337Arg) n.8532G>A | |
| 5 | g.13792036C>A | CA359218938 | DNAH5 | c.8406G>T (p.Gln2802His) c.8361G>T (p.Gln2787His) n.8613G>T c.8514G>T (p.Gln2838His) c.7419G>T (p.Gln2473His) c.3603G>T (p.Gln1201His) c.3156G>T (p.Gln1052His) c.2493G>T (p.Gln831His) c.7008G>T (p.Gln2336His) n.8531G>T | |
| 5 | g.13792036C>G | CA359218941 | DNAH5 | c.8406G>C (p.Gln2802His) c.8361G>C (p.Gln2787His) n.8613G>C c.8514G>C (p.Gln2838His) c.7419G>C (p.Gln2473His) c.3603G>C (p.Gln1201His) c.3156G>C (p.Gln1052His) c.2493G>C (p.Gln831His) c.7008G>C (p.Gln2336His) n.8531G>C | |
| 5 | g.13792036C>T | CA443263393 | DNAH5 | c.8406G>A (p.Gln2802=) c.8361G>A (p.Gln2787=) n.8613G>A c.8514G>A (p.Gln2838=) c.7419G>A (p.Gln2473=) c.3603G>A (p.Gln1201=) c.3156G>A (p.Gln1052=) c.2493G>A (p.Gln831=) c.7008G>A (p.Gln2336=) n.8531G>A | |
| 5 | g.13792037T>A | CA359218950 | DNAH5 | c.8405A>T (p.Gln2802Leu) c.8360A>T (p.Gln2787Leu) n.8612A>T c.8513A>T (p.Gln2838Leu) c.7418A>T (p.Gln2473Leu) c.3602A>T (p.Gln1201Leu) c.3155A>T (p.Gln1052Leu) c.2492A>T (p.Gln831Leu) c.7007A>T (p.Gln2336Leu) n.8530A>T | |
| 5 | g.13792037T>C | CA359218947 | DNAH5 | c.8405A>G (p.Gln2802Arg) c.8360A>G (p.Gln2787Arg) n.8612A>G c.8513A>G (p.Gln2838Arg) c.7418A>G (p.Gln2473Arg) c.3602A>G (p.Gln1201Arg) c.3155A>G (p.Gln1052Arg) c.2492A>G (p.Gln831Arg) c.7007A>G (p.Gln2336Arg) n.8530A>G | gnomAD v4 |
| 5 | g.13792037T>G | CA359218944 | DNAH5 | c.8405A>C (p.Gln2802Pro) c.8360A>C (p.Gln2787Pro) n.8612A>C c.8513A>C (p.Gln2838Pro) c.7418A>C (p.Gln2473Pro) c.3602A>C (p.Gln1201Pro) c.3155A>C (p.Gln1052Pro) c.2492A>C (p.Gln831Pro) c.7007A>C (p.Gln2336Pro) n.8530A>C | |
| 5 | g.13792038G>A | CA359218951 | DNAH5 | c.8404C>T (p.Gln2802Ter) c.8359C>T (p.Gln2787Ter) n.8611C>T c.8512C>T (p.Gln2838Ter) c.7417C>T (p.Gln2473Ter) c.3601C>T (p.Gln1201Ter) c.3154C>T (p.Gln1052Ter) c.2491C>T (p.Gln831Ter) c.7006C>T (p.Gln2336Ter) n.8529C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13792038G>C | CA359218954 | DNAH5 | c.8404C>G (p.Gln2802Glu) c.8359C>G (p.Gln2787Glu) n.8611C>G c.8512C>G (p.Gln2838Glu) c.7417C>G (p.Gln2473Glu) c.3601C>G (p.Gln1201Glu) c.3154C>G (p.Gln1052Glu) c.2491C>G (p.Gln831Glu) c.7006C>G (p.Gln2336Glu) n.8529C>G | gnomAD v4 |
| 5 | g.13792038G= | CA1528440938 | DNAH5 | c.8404C= (p.Gln2802=) c.8359C= (p.Gln2787=) n.8611C= c.8512C= (p.Gln2838=) c.7417C= (p.Gln2473=) c.3601C= (p.Gln1201=) c.3154C= (p.Gln1052=) c.2491C= (p.Gln831=) c.7006C= (p.Gln2336=) n.8529C= | |
| 5 | g.13792038G>T | CA359218957 | DNAH5 | c.8404C>A (p.Gln2802Lys) c.8359C>A (p.Gln2787Lys) n.8611C>A c.8512C>A (p.Gln2838Lys) c.7417C>A (p.Gln2473Lys) c.3601C>A (p.Gln1201Lys) c.3154C>A (p.Gln1052Lys) c.2491C>A (p.Gln831Lys) c.7006C>A (p.Gln2336Lys) n.8529C>A | |
| 5 | g.13792039C>A | CA359218960 | DNAH5 | c.8403G>T (p.Trp2801Cys) c.8358G>T (p.Trp2786Cys) n.8610G>T c.8511G>T (p.Trp2837Cys) c.7416G>T (p.Trp2472Cys) c.3600G>T (p.Trp1200Cys) c.3153G>T (p.Trp1051Cys) c.2490G>T (p.Trp830Cys) c.7005G>T (p.Trp2335Cys) n.8528G>T | gnomAD v4 |
| 5 | g.13792039C>G | CA359218969 | DNAH5 | c.8403G>C (p.Trp2801Cys) c.8358G>C (p.Trp2786Cys) n.8610G>C c.8511G>C (p.Trp2837Cys) c.7416G>C (p.Trp2472Cys) c.3600G>C (p.Trp1200Cys) c.3153G>C (p.Trp1051Cys) c.2490G>C (p.Trp830Cys) c.7005G>C (p.Trp2335Cys) n.8528G>C | |
| 5 | g.13792039C>T | CA359218972 | DNAH5 | c.8403G>A (p.Trp2801Ter) c.8358G>A (p.Trp2786Ter) n.8610G>A c.8511G>A (p.Trp2837Ter) c.7416G>A (p.Trp2472Ter) c.3600G>A (p.Trp1200Ter) c.3153G>A (p.Trp1051Ter) c.2490G>A (p.Trp830Ter) c.7005G>A (p.Trp2335Ter) n.8528G>A | |
| 5 | g.13792040del | CA2580072136 | DNAH5 | c.8403del (p.Trp2801CysfsTer5) c.8358del (p.Trp2786CysfsTer5) n.8610del c.8511del (p.Trp2837CysfsTer5) c.7416del (p.Trp2472CysfsTer5) c.3600del (p.Trp1200CysfsTer5) c.3153del (p.Trp1051CysfsTer5) c.2490del (p.Trp830CysfsTer5) c.7005del (p.Trp2335CysfsTer5) n.8528del | ClinVar |
| 5 | g.13792040C>A | CA359218973 | DNAH5 | c.8402G>T (p.Trp2801Leu) c.8357G>T (p.Trp2786Leu) n.8609G>T c.8510G>T (p.Trp2837Leu) c.7415G>T (p.Trp2472Leu) c.3599G>T (p.Trp1200Leu) c.3152G>T (p.Trp1051Leu) c.2489G>T (p.Trp830Leu) c.7004G>T (p.Trp2335Leu) n.8527G>T | |
| 5 | g.13792040C= | CA1528440939 | DNAH5 | c.8402G= (p.Trp2801=) c.8357G= (p.Trp2786=) n.8609G= c.8510G= (p.Trp2837=) c.7415G= (p.Trp2472=) c.3599G= (p.Trp1200=) c.3152G= (p.Trp1051=) c.2489G= (p.Trp830=) c.7004G= (p.Trp2335=) n.8527G= | |
| 5 | g.13792040C>G | CA359218979 | DNAH5 | c.8402G>C (p.Trp2801Ser) c.8357G>C (p.Trp2786Ser) n.8609G>C c.8510G>C (p.Trp2837Ser) c.7415G>C (p.Trp2472Ser) c.3599G>C (p.Trp1200Ser) c.3152G>C (p.Trp1051Ser) c.2489G>C (p.Trp830Ser) c.7004G>C (p.Trp2335Ser) n.8527G>C | |
| 5 | g.13792040C>T | CA359218976 | DNAH5 | c.8402G>A (p.Trp2801Ter) c.8357G>A (p.Trp2786Ter) n.8609G>A c.8510G>A (p.Trp2837Ter) c.7415G>A (p.Trp2472Ter) c.3599G>A (p.Trp1200Ter) c.3152G>A (p.Trp1051Ter) c.2489G>A (p.Trp830Ter) c.7004G>A (p.Trp2335Ter) n.8527G>A | dbSNP gnomAD v4 |
| 5 | g.13792041A>C | CA359218983 | DNAH5 | c.8401T>G (p.Trp2801Gly) c.8356T>G (p.Trp2786Gly) n.8608T>G c.8509T>G (p.Trp2837Gly) c.7414T>G (p.Trp2472Gly) c.3598T>G (p.Trp1200Gly) c.3151T>G (p.Trp1051Gly) c.2488T>G (p.Trp830Gly) c.7003T>G (p.Trp2335Gly) n.8526T>G | |
| 5 | g.13792041A>G | CA359218985 | DNAH5 | c.8401T>C (p.Trp2801Arg) c.8356T>C (p.Trp2786Arg) n.8608T>C c.8509T>C (p.Trp2837Arg) c.7414T>C (p.Trp2472Arg) c.3598T>C (p.Trp1200Arg) c.3151T>C (p.Trp1051Arg) c.2488T>C (p.Trp830Arg) c.7003T>C (p.Trp2335Arg) n.8526T>C | |
| 5 | g.13792041A>T | CA359219004 | DNAH5 | c.8401T>A (p.Trp2801Arg) c.8356T>A (p.Trp2786Arg) n.8608T>A c.8509T>A (p.Trp2837Arg) c.7414T>A (p.Trp2472Arg) c.3598T>A (p.Trp1200Arg) c.3151T>A (p.Trp1051Arg) c.2488T>A (p.Trp830Arg) c.7003T>A (p.Trp2335Arg) n.8526T>A | |
| 5 | g.13792042G>A | CA443263395 | DNAH5 | c.8400C>T (p.Val2800=) c.8355C>T (p.Val2785=) n.8607C>T c.8508C>T (p.Val2836=) c.7413C>T (p.Val2471=) c.3597C>T (p.Val1199=) c.3150C>T (p.Val1050=) c.2487C>T (p.Val829=) c.7002C>T (p.Val2334=) n.8525C>T | ClinVar COSMIC |
| 5 | g.13792042G>C | CA443263396 | DNAH5 | c.8400C>G (p.Val2800=) c.8355C>G (p.Val2785=) n.8607C>G c.8508C>G (p.Val2836=) c.7413C>G (p.Val2471=) c.3597C>G (p.Val1199=) c.3150C>G (p.Val1050=) c.2487C>G (p.Val829=) c.7002C>G (p.Val2334=) n.8525C>G | ClinVar dbSNP COSMIC |