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.13793945C>A | CA359221783 | DNAH5 | c.8001G>T (p.Trp2667Cys) c.7956G>T (p.Trp2652Cys) n.8208G>T c.8109G>T (p.Trp2703Cys) c.7014G>T (p.Trp2338Cys) c.3198G>T (p.Trp1066Cys) c.2751G>T (p.Trp917Cys) c.2088G>T (p.Trp696Cys) c.6603G>T (p.Trp2201Cys) n.8126G>T | |
| 5 | g.13793945C>G | CA359221785 | DNAH5 | c.8001G>C (p.Trp2667Cys) c.7956G>C (p.Trp2652Cys) n.8208G>C c.8109G>C (p.Trp2703Cys) c.7014G>C (p.Trp2338Cys) c.3198G>C (p.Trp1066Cys) c.2751G>C (p.Trp917Cys) c.2088G>C (p.Trp696Cys) c.6603G>C (p.Trp2201Cys) n.8126G>C | |
| 5 | g.13793945C>T | CA359221784 | DNAH5 | c.8001G>A (p.Trp2667Ter) c.7956G>A (p.Trp2652Ter) n.8208G>A c.8109G>A (p.Trp2703Ter) c.7014G>A (p.Trp2338Ter) c.3198G>A (p.Trp1066Ter) c.2751G>A (p.Trp917Ter) c.2088G>A (p.Trp696Ter) c.6603G>A (p.Trp2201Ter) n.8126G>A | ClinVar |
| 5 | g.13793946C>A | CA359221786 | DNAH5 | c.8000G>T (p.Trp2667Leu) c.7955G>T (p.Trp2652Leu) n.8207G>T c.8108G>T (p.Trp2703Leu) c.7013G>T (p.Trp2338Leu) c.3197G>T (p.Trp1066Leu) c.2750G>T (p.Trp917Leu) c.2087G>T (p.Trp696Leu) c.6602G>T (p.Trp2201Leu) n.8125G>T | |
| 5 | g.13793946C= | CA1528441831 | DNAH5 | c.8000G= (p.Trp2667=) c.7955G= (p.Trp2652=) n.8207G= c.8108G= (p.Trp2703=) c.7013G= (p.Trp2338=) c.3197G= (p.Trp1066=) c.2750G= (p.Trp917=) c.2087G= (p.Trp696=) c.6602G= (p.Trp2201=) n.8125G= | |
| 5 | g.13793946C>G | CA359221787 | DNAH5 | c.8000G>C (p.Trp2667Ser) c.7955G>C (p.Trp2652Ser) n.8207G>C c.8108G>C (p.Trp2703Ser) c.7013G>C (p.Trp2338Ser) c.3197G>C (p.Trp1066Ser) c.2750G>C (p.Trp917Ser) c.2087G>C (p.Trp696Ser) c.6602G>C (p.Trp2201Ser) n.8125G>C | |
| 5 | g.13793946C>T | CA359221788 | DNAH5 | c.8000G>A (p.Trp2667Ter) c.7955G>A (p.Trp2652Ter) n.8207G>A c.8108G>A (p.Trp2703Ter) c.7013G>A (p.Trp2338Ter) c.3197G>A (p.Trp1066Ter) c.2750G>A (p.Trp917Ter) c.2087G>A (p.Trp696Ter) c.6602G>A (p.Trp2201Ter) n.8125G>A | ClinVar dbSNP |
| 5 | g.13793947A= | CA1528441832 | DNAH5 | c.7999T= (p.Trp2667=) c.7954T= (p.Trp2652=) n.8206T= c.8107T= (p.Trp2703=) c.7012T= (p.Trp2338=) c.3196T= (p.Trp1066=) c.2749T= (p.Trp917=) c.2086T= (p.Trp696=) c.6601T= (p.Trp2201=) n.8124T= | |
| 5 | g.13793947A>C | CA359221790 | DNAH5 | c.7999T>G (p.Trp2667Gly) c.7954T>G (p.Trp2652Gly) n.8206T>G c.8107T>G (p.Trp2703Gly) c.7012T>G (p.Trp2338Gly) c.3196T>G (p.Trp1066Gly) c.2749T>G (p.Trp917Gly) c.2086T>G (p.Trp696Gly) c.6601T>G (p.Trp2201Gly) n.8124T>G | |
| 5 | g.13793947A>G | CA359221792 | DNAH5 | c.7999T>C (p.Trp2667Arg) c.7954T>C (p.Trp2652Arg) n.8206T>C c.8107T>C (p.Trp2703Arg) c.7012T>C (p.Trp2338Arg) c.3196T>C (p.Trp1066Arg) c.2749T>C (p.Trp917Arg) c.2086T>C (p.Trp696Arg) c.6601T>C (p.Trp2201Arg) n.8124T>C | dbSNP |
| 5 | g.13793947A>T | CA359221794 | DNAH5 | c.7999T>A (p.Trp2667Arg) c.7954T>A (p.Trp2652Arg) n.8206T>A c.8107T>A (p.Trp2703Arg) c.7012T>A (p.Trp2338Arg) c.3196T>A (p.Trp1066Arg) c.2749T>A (p.Trp917Arg) c.2086T>A (p.Trp696Arg) c.6601T>A (p.Trp2201Arg) n.8124T>A | |
| 5 | g.13793948C>A | CA334386 | DNAH5 | c.7998G>T (p.Glu2666Asp) c.7953G>T (p.Glu2651Asp) n.8205G>T c.8106G>T (p.Glu2702Asp) c.7011G>T (p.Glu2337Asp) c.3195G>T (p.Glu1065Asp) c.2748G>T (p.Glu916Asp) c.2085G>T (p.Glu695Asp) c.6600G>T (p.Glu2200Asp) n.8123G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13793948C= | CA1528441833 | DNAH5 | c.7998G= (p.Glu2666=) c.7953G= (p.Glu2651=) n.8205G= c.8106G= (p.Glu2702=) c.7011G= (p.Glu2337=) c.3195G= (p.Glu1065=) c.2748G= (p.Glu916=) c.2085G= (p.Glu695=) c.6600G= (p.Glu2200=) n.8123G= | |
| 5 | g.13793948C>G | CA359221796 | DNAH5 | c.7998G>C (p.Glu2666Asp) c.7953G>C (p.Glu2651Asp) n.8205G>C c.8106G>C (p.Glu2702Asp) c.7011G>C (p.Glu2337Asp) c.3195G>C (p.Glu1065Asp) c.2748G>C (p.Glu916Asp) c.2085G>C (p.Glu695Asp) c.6600G>C (p.Glu2200Asp) n.8123G>C | |
| 5 | g.13793948C>T | CA443267333 | DNAH5 | c.7998G>A (p.Glu2666=) c.7953G>A (p.Glu2651=) n.8205G>A c.8106G>A (p.Glu2702=) c.7011G>A (p.Glu2337=) c.3195G>A (p.Glu1065=) c.2748G>A (p.Glu916=) c.2085G>A (p.Glu695=) c.6600G>A (p.Glu2200=) n.8123G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.13793949T>A | CA359221798 | DNAH5 | c.7997A>T (p.Glu2666Val) c.7952A>T (p.Glu2651Val) n.8204A>T c.8105A>T (p.Glu2702Val) c.7010A>T (p.Glu2337Val) c.3194A>T (p.Glu1065Val) c.2747A>T (p.Glu916Val) c.2084A>T (p.Glu695Val) c.6599A>T (p.Glu2200Val) n.8122A>T | |
| 5 | g.13793949T>C | CA359221800 | DNAH5 | c.7997A>G (p.Glu2666Gly) c.7952A>G (p.Glu2651Gly) n.8204A>G c.8105A>G (p.Glu2702Gly) c.7010A>G (p.Glu2337Gly) c.3194A>G (p.Glu1065Gly) c.2747A>G (p.Glu916Gly) c.2084A>G (p.Glu695Gly) c.6599A>G (p.Glu2200Gly) n.8122A>G | |
| 5 | g.13793949T>G | CA359221802 | DNAH5 | c.7997A>C (p.Glu2666Ala) c.7952A>C (p.Glu2651Ala) n.8204A>C c.8105A>C (p.Glu2702Ala) c.7010A>C (p.Glu2337Ala) c.3194A>C (p.Glu1065Ala) c.2747A>C (p.Glu916Ala) c.2084A>C (p.Glu695Ala) c.6599A>C (p.Glu2200Ala) n.8122A>C | |
| 5 | g.13793950C>A | CA359221808 | DNAH5 | c.7996G>T (p.Glu2666Ter) c.7951G>T (p.Glu2651Ter) n.8203G>T c.8104G>T (p.Glu2702Ter) c.7009G>T (p.Glu2337Ter) c.3193G>T (p.Glu1065Ter) c.2746G>T (p.Glu916Ter) c.2083G>T (p.Glu695Ter) c.6598G>T (p.Glu2200Ter) n.8121G>T | gnomAD v4 |
| 5 | g.13793950C>G | CA359221807 | DNAH5 | c.7996G>C (p.Glu2666Gln) c.7951G>C (p.Glu2651Gln) n.8203G>C c.8104G>C (p.Glu2702Gln) c.7009G>C (p.Glu2337Gln) c.3193G>C (p.Glu1065Gln) c.2746G>C (p.Glu916Gln) c.2083G>C (p.Glu695Gln) c.6598G>C (p.Glu2200Gln) n.8121G>C | gnomAD v4 |
| 5 | g.13793950C>T | CA359221805 | DNAH5 | c.7996G>A (p.Glu2666Lys) c.7951G>A (p.Glu2651Lys) n.8203G>A c.8104G>A (p.Glu2702Lys) c.7009G>A (p.Glu2337Lys) c.3193G>A (p.Glu1065Lys) c.2746G>A (p.Glu916Lys) c.2083G>A (p.Glu695Lys) c.6598G>A (p.Glu2200Lys) n.8121G>A | |
| 5 | g.13793950_13793954delinsCATTG | CA1528441834 | DNAH5 | c.7992_7996delinsCAATG (p.Ile2664=) c.7947_7951delinsCAATG (p.Ile2649=) n.8199_8203delinsCAATG c.8100_8104delinsCAATG (p.Ile2700=) c.7005_7009delinsCAATG (p.Ile2335=) c.3189_3193delinsCAATG (p.Ile1063=) c.2742_2746delinsCAATG (p.Ile914=) c.2079_2083delinsCAATG (p.Ile693=) c.6594_6598delinsCAATG (p.Ile2198=) n.8117_8121delinsCAATG | |
| 5 | g.13793951A>C | CA359221810 | DNAH5 | c.7995T>G (p.Asn2665Lys) c.7950T>G (p.Asn2650Lys) n.8202T>G c.8103T>G (p.Asn2701Lys) c.7008T>G (p.Asn2336Lys) c.3192T>G (p.Asn1064Lys) c.2745T>G (p.Asn915Lys) c.2082T>G (p.Asn694Lys) c.6597T>G (p.Asn2199Lys) n.8120T>G | |
| 5 | g.13793951A>G | CA443267335 | DNAH5 | c.7995T>C (p.Asn2665=) c.7950T>C (p.Asn2650=) n.8202T>C c.8103T>C (p.Asn2701=) c.7008T>C (p.Asn2336=) c.3192T>C (p.Asn1064=) c.2745T>C (p.Asn915=) c.2082T>C (p.Asn694=) c.6597T>C (p.Asn2199=) n.8120T>C | |
| 5 | g.13793951A>T | CA359221812 | DNAH5 | c.7995T>A (p.Asn2665Lys) c.7950T>A (p.Asn2650Lys) n.8202T>A c.8103T>A (p.Asn2701Lys) c.7008T>A (p.Asn2336Lys) c.3192T>A (p.Asn1064Lys) c.2745T>A (p.Asn915Lys) c.2082T>A (p.Asn694Lys) c.6597T>A (p.Asn2199Lys) n.8120T>A | |
| 5 | g.13793954_13793957del | CA1528441835 | DNAH5 | c.7992_7995del (p.Ile2664MetfsTer11) c.7947_7950del (p.Ile2649MetfsTer11) n.8199_8202del c.8100_8103del (p.Ile2700MetfsTer11) c.7005_7008del (p.Ile2335MetfsTer11) c.3189_3192del (p.Ile1063MetfsTer11) c.2742_2745del (p.Ile914MetfsTer11) c.2079_2082del (p.Ile693MetfsTer11) c.6594_6597del (p.Ile2198MetfsTer11) n.8117_8120del | dbSNP |
| 5 | g.13793952T>A | CA359221814 | DNAH5 | c.7994A>T (p.Asn2665Ile) c.7949A>T (p.Asn2650Ile) n.8201A>T c.8102A>T (p.Asn2701Ile) c.7007A>T (p.Asn2336Ile) c.3191A>T (p.Asn1064Ile) c.2744A>T (p.Asn915Ile) c.2081A>T (p.Asn694Ile) c.6596A>T (p.Asn2199Ile) n.8119A>T | |
| 5 | g.13793952T>C | CA3202940 | DNAH5 | c.7994A>G (p.Asn2665Ser) c.7949A>G (p.Asn2650Ser) n.8201A>G c.8102A>G (p.Asn2701Ser) c.7007A>G (p.Asn2336Ser) c.3191A>G (p.Asn1064Ser) c.2744A>G (p.Asn915Ser) c.2081A>G (p.Asn694Ser) c.6596A>G (p.Asn2199Ser) n.8119A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13793952T>G | CA359221816 | DNAH5 | c.7994A>C (p.Asn2665Thr) c.7949A>C (p.Asn2650Thr) n.8201A>C c.8102A>C (p.Asn2701Thr) c.7007A>C (p.Asn2336Thr) c.3191A>C (p.Asn1064Thr) c.2744A>C (p.Asn915Thr) c.2081A>C (p.Asn694Thr) c.6596A>C (p.Asn2199Thr) n.8119A>C | |
| 5 | g.13793952T= | CA1528441836 | DNAH5 | c.7994A= (p.Asn2665=) c.7949A= (p.Asn2650=) n.8201A= c.8102A= (p.Asn2701=) c.7007A= (p.Asn2336=) c.3191A= (p.Asn1064=) c.2744A= (p.Asn915=) c.2081A= (p.Asn694=) c.6596A= (p.Asn2199=) n.8119A= | |
| 5 | g.13793953T>A | CA359221819 | DNAH5 | c.7993A>T (p.Asn2665Tyr) c.7948A>T (p.Asn2650Tyr) n.8200A>T c.8101A>T (p.Asn2701Tyr) c.7006A>T (p.Asn2336Tyr) c.3190A>T (p.Asn1064Tyr) c.2743A>T (p.Asn915Tyr) c.2080A>T (p.Asn694Tyr) c.6595A>T (p.Asn2199Tyr) n.8118A>T | |
| 5 | g.13793953T>C | CA359221821 | DNAH5 | c.7993A>G (p.Asn2665Asp) c.7948A>G (p.Asn2650Asp) n.8200A>G c.8101A>G (p.Asn2701Asp) c.7006A>G (p.Asn2336Asp) c.3190A>G (p.Asn1064Asp) c.2743A>G (p.Asn915Asp) c.2080A>G (p.Asn694Asp) c.6595A>G (p.Asn2199Asp) n.8118A>G | gnomAD v4 |
| 5 | g.13793953T>G | CA359221823 | DNAH5 | c.7993A>C (p.Asn2665His) c.7948A>C (p.Asn2650His) n.8200A>C c.8101A>C (p.Asn2701His) c.7006A>C (p.Asn2336His) c.3190A>C (p.Asn1064His) c.2743A>C (p.Asn915His) c.2080A>C (p.Asn694His) c.6595A>C (p.Asn2199His) n.8118A>C | |
| 5 | g.13793954del | CA2573138459 | DNAH5 | c.7992del (p.Asn2665MetfsTer11) c.7947del (p.Asn2650MetfsTer11) n.8199del c.8100del (p.Asn2701MetfsTer11) c.7005del (p.Asn2336MetfsTer11) c.3189del (p.Asn1064MetfsTer11) c.2742del (p.Asn915MetfsTer11) c.2079del (p.Asn694MetfsTer11) c.6594del (p.Asn2199MetfsTer11) n.8117del | ClinVar dbSNP |
| 5 | g.13793954G>A | CA443267339 | DNAH5 | c.7992C>T (p.Ile2664=) c.7947C>T (p.Ile2649=) n.8199C>T c.8100C>T (p.Ile2700=) c.7005C>T (p.Ile2335=) c.3189C>T (p.Ile1063=) c.2742C>T (p.Ile914=) c.2079C>T (p.Ile693=) c.6594C>T (p.Ile2198=) n.8117C>T | ClinVar dbSNP COSMIC |
| 5 | g.13793954G>C | CA359221825 | DNAH5 | c.7992C>G (p.Ile2664Met) c.7947C>G (p.Ile2649Met) n.8199C>G c.8100C>G (p.Ile2700Met) c.7005C>G (p.Ile2335Met) c.3189C>G (p.Ile1063Met) c.2742C>G (p.Ile914Met) c.2079C>G (p.Ile693Met) c.6594C>G (p.Ile2198Met) n.8117C>G | |
| 5 | g.13793954G>T | CA443267340 | DNAH5 | c.7992C>A (p.Ile2664=) c.7947C>A (p.Ile2649=) n.8199C>A c.8100C>A (p.Ile2700=) c.7005C>A (p.Ile2335=) c.3189C>A (p.Ile1063=) c.2742C>A (p.Ile914=) c.2079C>A (p.Ile693=) c.6594C>A (p.Ile2198=) n.8117C>A | |
| 5 | g.13793955A>C | CA359221828 | DNAH5 | c.7991T>G (p.Ile2664Ser) c.7946T>G (p.Ile2649Ser) n.8198T>G c.8099T>G (p.Ile2700Ser) c.7004T>G (p.Ile2335Ser) c.3188T>G (p.Ile1063Ser) c.2741T>G (p.Ile914Ser) c.2078T>G (p.Ile693Ser) c.6593T>G (p.Ile2198Ser) n.8116T>G | |
| 5 | g.13793955A>G | CA359221830 | DNAH5 | c.7991T>C (p.Ile2664Thr) c.7946T>C (p.Ile2649Thr) n.8198T>C c.8099T>C (p.Ile2700Thr) c.7004T>C (p.Ile2335Thr) c.3188T>C (p.Ile1063Thr) c.2741T>C (p.Ile914Thr) c.2078T>C (p.Ile693Thr) c.6593T>C (p.Ile2198Thr) n.8116T>C | |
| 5 | g.13793955A>T | CA359221832 | DNAH5 | c.7991T>A (p.Ile2664Asn) c.7946T>A (p.Ile2649Asn) n.8198T>A c.8099T>A (p.Ile2700Asn) c.7004T>A (p.Ile2335Asn) c.3188T>A (p.Ile1063Asn) c.2741T>A (p.Ile914Asn) c.2078T>A (p.Ile693Asn) c.6593T>A (p.Ile2198Asn) n.8116T>A | |
| 5 | g.13793956T>A | CA359221834 | DNAH5 | c.7990A>T (p.Ile2664Phe) c.7945A>T (p.Ile2649Phe) n.8197A>T c.8098A>T (p.Ile2700Phe) c.7003A>T (p.Ile2335Phe) c.3187A>T (p.Ile1063Phe) c.2740A>T (p.Ile914Phe) c.2077A>T (p.Ile693Phe) c.6592A>T (p.Ile2198Phe) n.8115A>T | |
| 5 | g.13793956T>C | CA359221835 | DNAH5 | c.7990A>G (p.Ile2664Val) c.7945A>G (p.Ile2649Val) n.8197A>G c.8098A>G (p.Ile2700Val) c.7003A>G (p.Ile2335Val) c.3187A>G (p.Ile1063Val) c.2740A>G (p.Ile914Val) c.2077A>G (p.Ile693Val) c.6592A>G (p.Ile2198Val) n.8115A>G | |
| 5 | g.13793956T>G | CA359221836 | DNAH5 | c.7990A>C (p.Ile2664Leu) c.7945A>C (p.Ile2649Leu) n.8197A>C c.8098A>C (p.Ile2700Leu) c.7003A>C (p.Ile2335Leu) c.3187A>C (p.Ile1063Leu) c.2740A>C (p.Ile914Leu) c.2077A>C (p.Ile693Leu) c.6592A>C (p.Ile2198Leu) n.8115A>C | |
| 5 | g.13793957T>A | CA443267344 | DNAH5 | c.7989A>T (p.Ile2663=) c.7944A>T (p.Ile2648=) n.8196A>T c.8097A>T (p.Ile2699=) c.7002A>T (p.Ile2334=) c.3186A>T (p.Ile1062=) c.2739A>T (p.Ile913=) c.2076A>T (p.Ile692=) c.6591A>T (p.Ile2197=) n.8114A>T | |
| 5 | g.13793957T>C | CA359221838 | DNAH5 | c.7989A>G (p.Ile2663Met) c.7944A>G (p.Ile2648Met) n.8196A>G c.8097A>G (p.Ile2699Met) c.7002A>G (p.Ile2334Met) c.3186A>G (p.Ile1062Met) c.2739A>G (p.Ile913Met) c.2076A>G (p.Ile692Met) c.6591A>G (p.Ile2197Met) n.8114A>G | |
| 5 | g.13793957T>G | CA443267342 | DNAH5 | c.7989A>C (p.Ile2663=) c.7944A>C (p.Ile2648=) n.8196A>C c.8097A>C (p.Ile2699=) c.7002A>C (p.Ile2334=) c.3186A>C (p.Ile1062=) c.2739A>C (p.Ile913=) c.2076A>C (p.Ile692=) c.6591A>C (p.Ile2197=) n.8114A>C | |
| 5 | g.13793961_13793968del | CA2580072173 | DNAH5 | c.7982_7989del (p.Met2661AsnfsTer3) c.7937_7944del (p.Met2646AsnfsTer3) n.8189_8196del c.8090_8097del (p.Met2697AsnfsTer3) c.6995_7002del (p.Met2332AsnfsTer3) c.3179_3186del (p.Met1060AsnfsTer3) c.2732_2739del (p.Met911AsnfsTer3) c.2069_2076del (p.Met690AsnfsTer3) c.6584_6591del (p.Met2195AsnfsTer3) n.8107_8114del | ClinVar |
| 5 | g.13793958A= | CA1528441837 | DNAH5 | c.7988T= (p.Ile2663=) c.7943T= (p.Ile2648=) n.8195T= c.8096T= (p.Ile2699=) c.7001T= (p.Ile2334=) c.3185T= (p.Ile1062=) c.2738T= (p.Ile913=) c.2075T= (p.Ile692=) c.6590T= (p.Ile2197=) n.8113T= | |
| 5 | g.13793958A>C | CA359221841 | DNAH5 | c.7988T>G (p.Ile2663Arg) c.7943T>G (p.Ile2648Arg) n.8195T>G c.8096T>G (p.Ile2699Arg) c.7001T>G (p.Ile2334Arg) c.3185T>G (p.Ile1062Arg) c.2738T>G (p.Ile913Arg) c.2075T>G (p.Ile692Arg) c.6590T>G (p.Ile2197Arg) n.8113T>G | |
| 5 | g.13793958A>G | CA359221842 | DNAH5 | c.7988T>C (p.Ile2663Thr) c.7943T>C (p.Ile2648Thr) n.8195T>C c.8096T>C (p.Ile2699Thr) c.7001T>C (p.Ile2334Thr) c.3185T>C (p.Ile1062Thr) c.2738T>C (p.Ile913Thr) c.2075T>C (p.Ile692Thr) c.6590T>C (p.Ile2197Thr) n.8113T>C | dbSNP gnomAD v4 |