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.13792128G>A | CA3202844 | DNAH5 | c.8314C>T (p.Arg2772Ter) c.8269C>T (p.Arg2757Ter) n.8521C>T c.8422C>T (p.Arg2808Ter) c.7327C>T (p.Arg2443Ter) c.3511C>T (p.Arg1171Ter) c.3064C>T (p.Arg1022Ter) c.2401C>T (p.Arg801Ter) c.6916C>T (p.Arg2306Ter) n.8439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13792128G>C | CA359219395 | DNAH5 | c.8314C>G (p.Arg2772Gly) c.8269C>G (p.Arg2757Gly) n.8521C>G c.8422C>G (p.Arg2808Gly) c.7327C>G (p.Arg2443Gly) c.3511C>G (p.Arg1171Gly) c.3064C>G (p.Arg1022Gly) c.2401C>G (p.Arg801Gly) c.6916C>G (p.Arg2306Gly) n.8439C>G | |
| 5 | g.13792128G= | CA1528440981 | DNAH5 | c.8314C= (p.Arg2772=) c.8269C= (p.Arg2757=) n.8521C= c.8422C= (p.Arg2808=) c.7327C= (p.Arg2443=) c.3511C= (p.Arg1171=) c.3064C= (p.Arg1022=) c.2401C= (p.Arg801=) c.6916C= (p.Arg2306=) n.8439C= | |
| 5 | g.13792128G>T | CA443263478 | DNAH5 | c.8314C>A (p.Arg2772=) c.8269C>A (p.Arg2757=) n.8521C>A c.8422C>A (p.Arg2808=) c.7327C>A (p.Arg2443=) c.3511C>A (p.Arg1171=) c.3064C>A (p.Arg1022=) c.2401C>A (p.Arg801=) c.6916C>A (p.Arg2306=) n.8439C>A | |
| 5 | g.13792129G>A | CA443263481 | DNAH5 | c.8313C>T (p.Arg2771=) c.8268C>T (p.Arg2756=) n.8520C>T c.8421C>T (p.Arg2807=) c.7326C>T (p.Arg2442=) c.3510C>T (p.Arg1170=) c.3063C>T (p.Arg1021=) c.2400C>T (p.Arg800=) c.6915C>T (p.Arg2305=) n.8438C>T | gnomAD v4 |
| 5 | g.13792129G>C | CA443263485 | DNAH5 | c.8313C>G (p.Arg2771=) c.8268C>G (p.Arg2756=) n.8520C>G c.8421C>G (p.Arg2807=) c.7326C>G (p.Arg2442=) c.3510C>G (p.Arg1170=) c.3063C>G (p.Arg1021=) c.2400C>G (p.Arg800=) c.6915C>G (p.Arg2305=) n.8438C>G | |
| 5 | g.13792129G>T | CA443263483 | DNAH5 | c.8313C>A (p.Arg2771=) c.8268C>A (p.Arg2756=) n.8520C>A c.8421C>A (p.Arg2807=) c.7326C>A (p.Arg2442=) c.3510C>A (p.Arg1170=) c.3063C>A (p.Arg1021=) c.2400C>A (p.Arg800=) c.6915C>A (p.Arg2305=) n.8438C>A | |
| 5 | g.13792130C>A | CA113960200 | DNAH5 | c.8312G>T (p.Arg2771Leu) c.8267G>T (p.Arg2756Leu) n.8519G>T c.8420G>T (p.Arg2807Leu) c.7325G>T (p.Arg2442Leu) c.3509G>T (p.Arg1170Leu) c.3062G>T (p.Arg1021Leu) c.2399G>T (p.Arg800Leu) c.6914G>T (p.Arg2305Leu) n.8437G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13792130C= | CA1528440982 | DNAH5 | c.8312G= (p.Arg2771=) c.8267G= (p.Arg2756=) n.8519G= c.8420G= (p.Arg2807=) c.7325G= (p.Arg2442=) c.3509G= (p.Arg1170=) c.3062G= (p.Arg1021=) c.2399G= (p.Arg800=) c.6914G= (p.Arg2305=) n.8437G= | |
| 5 | g.13792130C>G | CA359219407 | DNAH5 | c.8312G>C (p.Arg2771Pro) c.8267G>C (p.Arg2756Pro) n.8519G>C c.8420G>C (p.Arg2807Pro) c.7325G>C (p.Arg2442Pro) c.3509G>C (p.Arg1170Pro) c.3062G>C (p.Arg1021Pro) c.2399G>C (p.Arg800Pro) c.6914G>C (p.Arg2305Pro) n.8437G>C | |
| 5 | g.13792130C>T | CA3202845 | DNAH5 | c.8312G>A (p.Arg2771His) c.8267G>A (p.Arg2756His) n.8519G>A c.8420G>A (p.Arg2807His) c.7325G>A (p.Arg2442His) c.3509G>A (p.Arg1170His) c.3062G>A (p.Arg1021His) c.2399G>A (p.Arg800His) c.6914G>A (p.Arg2305His) n.8437G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13792131G>A | CA3202846 | DNAH5 | c.8311C>T (p.Arg2771Cys) c.8266C>T (p.Arg2756Cys) n.8518C>T c.8419C>T (p.Arg2807Cys) c.7324C>T (p.Arg2442Cys) c.3508C>T (p.Arg1170Cys) c.3061C>T (p.Arg1021Cys) c.2398C>T (p.Arg800Cys) c.6913C>T (p.Arg2305Cys) n.8436C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13792131G>C | CA359219418 | DNAH5 | c.8311C>G (p.Arg2771Gly) c.8266C>G (p.Arg2756Gly) n.8518C>G c.8419C>G (p.Arg2807Gly) c.7324C>G (p.Arg2442Gly) c.3508C>G (p.Arg1170Gly) c.3061C>G (p.Arg1021Gly) c.2398C>G (p.Arg800Gly) c.6913C>G (p.Arg2305Gly) n.8436C>G | |
| 5 | g.13792131G= | CA1528440983 | DNAH5 | c.8311C= (p.Arg2771=) c.8266C= (p.Arg2756=) n.8518C= c.8419C= (p.Arg2807=) c.7324C= (p.Arg2442=) c.3508C= (p.Arg1170=) c.3061C= (p.Arg1021=) c.2398C= (p.Arg800=) c.6913C= (p.Arg2305=) n.8436C= | |
| 5 | g.13792131G>T | CA359219413 | DNAH5 | c.8311C>A (p.Arg2771Ser) c.8266C>A (p.Arg2756Ser) n.8518C>A c.8419C>A (p.Arg2807Ser) c.7324C>A (p.Arg2442Ser) c.3508C>A (p.Arg1170Ser) c.3061C>A (p.Arg1021Ser) c.2398C>A (p.Arg800Ser) c.6913C>A (p.Arg2305Ser) n.8436C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13792132T>A | CA443263500 | DNAH5 | c.8310A>T (p.Thr2770=) c.8265A>T (p.Thr2755=) n.8517A>T c.8418A>T (p.Thr2806=) c.7323A>T (p.Thr2441=) c.3507A>T (p.Thr1169=) c.3060A>T (p.Thr1020=) c.2397A>T (p.Thr799=) c.6912A>T (p.Thr2304=) n.8435A>T | |
| 5 | g.13792132T>C | CA443263502 | DNAH5 | c.8310A>G (p.Thr2770=) c.8265A>G (p.Thr2755=) n.8517A>G c.8418A>G (p.Thr2806=) c.7323A>G (p.Thr2441=) c.3507A>G (p.Thr1169=) c.3060A>G (p.Thr1020=) c.2397A>G (p.Thr799=) c.6912A>G (p.Thr2304=) n.8435A>G | |
| 5 | g.13792132T>G | CA443263505 | DNAH5 | c.8310A>C (p.Thr2770=) c.8265A>C (p.Thr2755=) n.8517A>C c.8418A>C (p.Thr2806=) c.7323A>C (p.Thr2441=) c.3507A>C (p.Thr1169=) c.3060A>C (p.Thr1020=) c.2397A>C (p.Thr799=) c.6912A>C (p.Thr2304=) n.8435A>C | |
| 5 | g.13792133G>A | CA359219422 | DNAH5 | c.8309C>T (p.Thr2770Ile) c.8264C>T (p.Thr2755Ile) n.8516C>T c.8417C>T (p.Thr2806Ile) c.7322C>T (p.Thr2441Ile) c.3506C>T (p.Thr1169Ile) c.3059C>T (p.Thr1020Ile) c.2396C>T (p.Thr799Ile) c.6911C>T (p.Thr2304Ile) n.8434C>T | |
| 5 | g.13792133G>C | CA359219423 | DNAH5 | c.8309C>G (p.Thr2770Arg) c.8264C>G (p.Thr2755Arg) n.8516C>G c.8417C>G (p.Thr2806Arg) c.7322C>G (p.Thr2441Arg) c.3506C>G (p.Thr1169Arg) c.3059C>G (p.Thr1020Arg) c.2396C>G (p.Thr799Arg) c.6911C>G (p.Thr2304Arg) n.8434C>G | |
| 5 | g.13792133G>T | CA359219426 | DNAH5 | c.8309C>A (p.Thr2770Lys) c.8264C>A (p.Thr2755Lys) n.8516C>A c.8417C>A (p.Thr2806Lys) c.7322C>A (p.Thr2441Lys) c.3506C>A (p.Thr1169Lys) c.3059C>A (p.Thr1020Lys) c.2396C>A (p.Thr799Lys) c.6911C>A (p.Thr2304Lys) n.8434C>A | |
| 5 | g.13792134T>A | CA359219430 | DNAH5 | c.8308A>T (p.Thr2770Ser) c.8263A>T (p.Thr2755Ser) n.8515A>T c.8416A>T (p.Thr2806Ser) c.7321A>T (p.Thr2441Ser) c.3505A>T (p.Thr1169Ser) c.3058A>T (p.Thr1020Ser) c.2395A>T (p.Thr799Ser) c.6910A>T (p.Thr2304Ser) n.8433A>T | |
| 5 | g.13792134T>C | CA3202847 | DNAH5 | c.8308A>G (p.Thr2770Ala) c.8263A>G (p.Thr2755Ala) n.8515A>G c.8416A>G (p.Thr2806Ala) c.7321A>G (p.Thr2441Ala) c.3505A>G (p.Thr1169Ala) c.3058A>G (p.Thr1020Ala) c.2395A>G (p.Thr799Ala) c.6910A>G (p.Thr2304Ala) n.8433A>G | dbSNP ExAC gnomAD v2 |
| 5 | g.13792134T>G | CA359219432 | DNAH5 | c.8308A>C (p.Thr2770Pro) c.8263A>C (p.Thr2755Pro) n.8515A>C c.8416A>C (p.Thr2806Pro) c.7321A>C (p.Thr2441Pro) c.3505A>C (p.Thr1169Pro) c.3058A>C (p.Thr1020Pro) c.2395A>C (p.Thr799Pro) c.6910A>C (p.Thr2304Pro) n.8433A>C | |
| 5 | g.13792134T= | CA1528440984 | DNAH5 | c.8308A= (p.Thr2770=) c.8263A= (p.Thr2755=) n.8515A= c.8416A= (p.Thr2806=) c.7321A= (p.Thr2441=) c.3505A= (p.Thr1169=) c.3058A= (p.Thr1020=) c.2395A= (p.Thr799=) c.6910A= (p.Thr2304=) n.8433A= | |
| 5 | g.13792135C>A | CA443263521 | DNAH5 | c.8307G>T (p.Leu2769=) c.8262G>T (p.Leu2754=) n.8514G>T c.8415G>T (p.Leu2805=) c.7320G>T (p.Leu2440=) c.3504G>T (p.Leu1168=) c.3057G>T (p.Leu1019=) c.2394G>T (p.Leu798=) c.6909G>T (p.Leu2303=) n.8432G>T | ClinVar |
| 5 | g.13792135C>G | CA443263523 | DNAH5 | c.8307G>C (p.Leu2769=) c.8262G>C (p.Leu2754=) n.8514G>C c.8415G>C (p.Leu2805=) c.7320G>C (p.Leu2440=) c.3504G>C (p.Leu1168=) c.3057G>C (p.Leu1019=) c.2394G>C (p.Leu798=) c.6909G>C (p.Leu2303=) n.8432G>C | |
| 5 | g.13792135C>T | CA443263525 | DNAH5 | c.8307G>A (p.Leu2769=) c.8262G>A (p.Leu2754=) n.8514G>A c.8415G>A (p.Leu2805=) c.7320G>A (p.Leu2440=) c.3504G>A (p.Leu1168=) c.3057G>A (p.Leu1019=) c.2394G>A (p.Leu798=) c.6909G>A (p.Leu2303=) n.8432G>A | |
| 5 | g.13792136A>C | CA359219434 | DNAH5 | c.8306T>G (p.Leu2769Arg) c.8261T>G (p.Leu2754Arg) n.8513T>G c.8414T>G (p.Leu2805Arg) c.7319T>G (p.Leu2440Arg) c.3503T>G (p.Leu1168Arg) c.3056T>G (p.Leu1019Arg) c.2393T>G (p.Leu798Arg) c.6908T>G (p.Leu2303Arg) n.8431T>G | |
| 5 | g.13792136A>G | CA359219436 | DNAH5 | c.8306T>C (p.Leu2769Pro) c.8261T>C (p.Leu2754Pro) n.8513T>C c.8414T>C (p.Leu2805Pro) c.7319T>C (p.Leu2440Pro) c.3503T>C (p.Leu1168Pro) c.3056T>C (p.Leu1019Pro) c.2393T>C (p.Leu798Pro) c.6908T>C (p.Leu2303Pro) n.8431T>C | |
| 5 | g.13792136A>T | CA359219438 | DNAH5 | c.8306T>A (p.Leu2769Gln) c.8261T>A (p.Leu2754Gln) n.8513T>A c.8414T>A (p.Leu2805Gln) c.7319T>A (p.Leu2440Gln) c.3503T>A (p.Leu1168Gln) c.3056T>A (p.Leu1019Gln) c.2393T>A (p.Leu798Gln) c.6908T>A (p.Leu2303Gln) n.8431T>A | |
| 5 | g.13792137G>A | CA443263531 | DNAH5 | c.8305C>T (p.Leu2769=) c.8260C>T (p.Leu2754=) n.8512C>T c.8413C>T (p.Leu2805=) c.7318C>T (p.Leu2440=) c.3502C>T (p.Leu1168=) c.3055C>T (p.Leu1019=) c.2392C>T (p.Leu798=) c.6907C>T (p.Leu2303=) n.8430C>T | |
| 5 | g.13792137G>C | CA359219440 | DNAH5 | c.8305C>G (p.Leu2769Val) c.8260C>G (p.Leu2754Val) n.8512C>G c.8413C>G (p.Leu2805Val) c.7318C>G (p.Leu2440Val) c.3502C>G (p.Leu1168Val) c.3055C>G (p.Leu1019Val) c.2392C>G (p.Leu798Val) c.6907C>G (p.Leu2303Val) n.8430C>G | |
| 5 | g.13792137G>T | CA359219442 | DNAH5 | c.8305C>A (p.Leu2769Met) c.8260C>A (p.Leu2754Met) n.8512C>A c.8413C>A (p.Leu2805Met) c.7318C>A (p.Leu2440Met) c.3502C>A (p.Leu1168Met) c.3055C>A (p.Leu1019Met) c.2392C>A (p.Leu798Met) c.6907C>A (p.Leu2303Met) n.8430C>A | |
| 5 | g.13792138A>C | CA443263536 | DNAH5 | c.8304T>G (p.Pro2768=) c.8259T>G (p.Pro2753=) n.8511T>G c.8412T>G (p.Pro2804=) c.7317T>G (p.Pro2439=) c.3501T>G (p.Pro1167=) c.3054T>G (p.Pro1018=) c.2391T>G (p.Pro797=) c.6906T>G (p.Pro2302=) n.8429T>G | |
| 5 | g.13792138A>G | CA443263539 | DNAH5 | c.8304T>C (p.Pro2768=) c.8259T>C (p.Pro2753=) n.8511T>C c.8412T>C (p.Pro2804=) c.7317T>C (p.Pro2439=) c.3501T>C (p.Pro1167=) c.3054T>C (p.Pro1018=) c.2391T>C (p.Pro797=) c.6906T>C (p.Pro2302=) n.8429T>C | |
| 5 | g.13792138A>T | CA443263541 | DNAH5 | c.8304T>A (p.Pro2768=) c.8259T>A (p.Pro2753=) n.8511T>A c.8412T>A (p.Pro2804=) c.7317T>A (p.Pro2439=) c.3501T>A (p.Pro1167=) c.3054T>A (p.Pro1018=) c.2391T>A (p.Pro797=) c.6906T>A (p.Pro2302=) n.8429T>A | |
| 5 | g.13792139G>A | CA113960212 | DNAH5 | c.8303C>T (p.Pro2768Leu) c.8258C>T (p.Pro2753Leu) n.8510C>T c.8411C>T (p.Pro2804Leu) c.7316C>T (p.Pro2439Leu) c.3500C>T (p.Pro1167Leu) c.3053C>T (p.Pro1018Leu) c.2390C>T (p.Pro797Leu) c.6905C>T (p.Pro2302Leu) n.8428C>T | dbSNP gnomAD v4 COSMIC |
| 5 | g.13792139G>C | CA359219443 | DNAH5 | c.8303C>G (p.Pro2768Arg) c.8258C>G (p.Pro2753Arg) n.8510C>G c.8411C>G (p.Pro2804Arg) c.7316C>G (p.Pro2439Arg) c.3500C>G (p.Pro1167Arg) c.3053C>G (p.Pro1018Arg) c.2390C>G (p.Pro797Arg) c.6905C>G (p.Pro2302Arg) n.8428C>G | |
| 5 | g.13792139G= | CA1528440985 | DNAH5 | c.8303C= (p.Pro2768=) c.8258C= (p.Pro2753=) n.8510C= c.8411C= (p.Pro2804=) c.7316C= (p.Pro2439=) c.3500C= (p.Pro1167=) c.3053C= (p.Pro1018=) c.2390C= (p.Pro797=) c.6905C= (p.Pro2302=) n.8428C= | |
| 5 | g.13792139G>T | CA359219444 | DNAH5 | c.8303C>A (p.Pro2768His) c.8258C>A (p.Pro2753His) n.8510C>A c.8411C>A (p.Pro2804His) c.7316C>A (p.Pro2439His) c.3500C>A (p.Pro1167His) c.3053C>A (p.Pro1018His) c.2390C>A (p.Pro797His) c.6905C>A (p.Pro2302His) n.8428C>A | |
| 5 | g.13792140G>A | CA359219447 | DNAH5 | c.8302C>T (p.Pro2768Ser) c.8257C>T (p.Pro2753Ser) n.8509C>T c.8410C>T (p.Pro2804Ser) c.7315C>T (p.Pro2439Ser) c.3499C>T (p.Pro1167Ser) c.3052C>T (p.Pro1018Ser) c.2389C>T (p.Pro797Ser) c.6904C>T (p.Pro2302Ser) n.8427C>T | |
| 5 | g.13792140G>C | CA359219449 | DNAH5 | c.8302C>G (p.Pro2768Ala) c.8257C>G (p.Pro2753Ala) n.8509C>G c.8410C>G (p.Pro2804Ala) c.7315C>G (p.Pro2439Ala) c.3499C>G (p.Pro1167Ala) c.3052C>G (p.Pro1018Ala) c.2389C>G (p.Pro797Ala) c.6904C>G (p.Pro2302Ala) n.8427C>G | |
| 5 | g.13792140G= | CA1528440986 | DNAH5 | c.8302C= (p.Pro2768=) c.8257C= (p.Pro2753=) n.8509C= c.8410C= (p.Pro2804=) c.7315C= (p.Pro2439=) c.3499C= (p.Pro1167=) c.3052C= (p.Pro1018=) c.2389C= (p.Pro797=) c.6904C= (p.Pro2302=) n.8427C= | |
| 5 | g.13792140G>T | CA3202848 | DNAH5 | c.8302C>A (p.Pro2768Thr) c.8257C>A (p.Pro2753Thr) n.8509C>A c.8410C>A (p.Pro2804Thr) c.7315C>A (p.Pro2439Thr) c.3499C>A (p.Pro1167Thr) c.3052C>A (p.Pro1018Thr) c.2389C>A (p.Pro797Thr) c.6904C>A (p.Pro2302Thr) n.8427C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13792141C>A | CA443263554 | DNAH5 | c.8301G>T (p.Val2767=) c.8256G>T (p.Val2752=) n.8508G>T c.8409G>T (p.Val2803=) c.7314G>T (p.Val2438=) c.3498G>T (p.Val1166=) c.3051G>T (p.Val1017=) c.2388G>T (p.Val796=) c.6903G>T (p.Val2301=) n.8426G>T | ClinVar |
| 5 | g.13792141C>G | CA443263556 | DNAH5 | c.8301G>C (p.Val2767=) c.8256G>C (p.Val2752=) n.8508G>C c.8409G>C (p.Val2803=) c.7314G>C (p.Val2438=) c.3498G>C (p.Val1166=) c.3051G>C (p.Val1017=) c.2388G>C (p.Val796=) c.6903G>C (p.Val2301=) n.8426G>C | |
| 5 | g.13792141C>T | CA443263557 | DNAH5 | c.8301G>A (p.Val2767=) c.8256G>A (p.Val2752=) n.8508G>A c.8409G>A (p.Val2803=) c.7314G>A (p.Val2438=) c.3498G>A (p.Val1166=) c.3051G>A (p.Val1017=) c.2388G>A (p.Val796=) c.6903G>A (p.Val2301=) n.8426G>A | ClinVar gnomAD v4 |
| 5 | g.13792142A>C | CA359219453 | DNAH5 | c.8300T>G (p.Val2767Gly) c.8255T>G (p.Val2752Gly) n.8507T>G c.8408T>G (p.Val2803Gly) c.7313T>G (p.Val2438Gly) c.3497T>G (p.Val1166Gly) c.3050T>G (p.Val1017Gly) c.2387T>G (p.Val796Gly) c.6902T>G (p.Val2301Gly) n.8425T>G | |
| 5 | g.13792142A>G | CA359219455 | DNAH5 | c.8300T>C (p.Val2767Ala) c.8255T>C (p.Val2752Ala) n.8507T>C c.8408T>C (p.Val2803Ala) c.7313T>C (p.Val2438Ala) c.3497T>C (p.Val1166Ala) c.3050T>C (p.Val1017Ala) c.2387T>C (p.Val796Ala) c.6902T>C (p.Val2301Ala) n.8425T>C |