WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13841763G>A | CA3203683 | DNAH5 | c.5413C>T (p.Arg1805Cys) c.5368C>T (p.Arg1790Cys) n.5620C>T c.5521C>T (p.Arg1841Cys) c.4426C>T (p.Arg1476Cys) c.610C>T (p.Arg204Cys) c.163C>T (p.Arg55Cys) c.4015C>T (p.Arg1339Cys) n.5538C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.[13841763G>A;13890971A>C] | CA2742038360 | DNAH5 | c.[2577+5T>G;5413C>T] (p.Arg1805Cys) c.[2532+5T>G;5368C>T] (p.Arg1790Cys) n.[2784+5T>G;5620C>T] c.[2685+5T>G;5521C>T] (p.Arg1841Cys) c.[1590+5T>G;4426C>T] (p.Arg1476Cys) c.[1179+5T>G;4015C>T] (p.Arg1339Cys) n.[2702+5T>G;5538C>T] | ClinVar |
| 5 | g.13841763G>C | CA359211319 | DNAH5 | c.5413C>G (p.Arg1805Gly) c.5368C>G (p.Arg1790Gly) n.5620C>G c.5521C>G (p.Arg1841Gly) c.4426C>G (p.Arg1476Gly) c.610C>G (p.Arg204Gly) c.163C>G (p.Arg55Gly) c.4015C>G (p.Arg1339Gly) n.5538C>G | |
| 5 | g.13841763G= | CA1528458369 | DNAH5 | c.5413C= (p.Arg1805=) c.5368C= (p.Arg1790=) n.5620C= c.5521C= (p.Arg1841=) c.4426C= (p.Arg1476=) c.610C= (p.Arg204=) c.163C= (p.Arg55=) c.4015C= (p.Arg1339=) n.5538C= | |
| 5 | g.13841763G>T | CA359211323 | DNAH5 | c.5413C>A (p.Arg1805Ser) c.5368C>A (p.Arg1790Ser) n.5620C>A c.5521C>A (p.Arg1841Ser) c.4426C>A (p.Arg1476Ser) c.610C>A (p.Arg204Ser) c.163C>A (p.Arg55Ser) c.4015C>A (p.Arg1339Ser) n.5538C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13841764A= | CA1528458371 | DNAH5 | c.5412T= (p.Ile1804=) c.5367T= (p.Ile1789=) n.5619T= c.5520T= (p.Ile1840=) c.4425T= (p.Ile1475=) c.609T= (p.Ile203=) c.162T= (p.Ile54=) c.4014T= (p.Ile1338=) n.5537T= | |
| 5 | g.13841764A>C | CA3203684 | DNAH5 | c.5412T>G (p.Ile1804Met) c.5367T>G (p.Ile1789Met) n.5619T>G c.5520T>G (p.Ile1840Met) c.4425T>G (p.Ile1475Met) c.609T>G (p.Ile203Met) c.162T>G (p.Ile54Met) c.4014T>G (p.Ile1338Met) n.5537T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841764A>G | CA443256156 | DNAH5 | c.5412T>C (p.Ile1804=) c.5367T>C (p.Ile1789=) n.5619T>C c.5520T>C (p.Ile1840=) c.4425T>C (p.Ile1475=) c.609T>C (p.Ile203=) c.162T>C (p.Ile54=) c.4014T>C (p.Ile1338=) n.5537T>C | |
| 5 | g.13841764A>T | CA443256157 | DNAH5 | c.5412T>A (p.Ile1804=) c.5367T>A (p.Ile1789=) n.5619T>A c.5520T>A (p.Ile1840=) c.4425T>A (p.Ile1475=) c.609T>A (p.Ile203=) c.162T>A (p.Ile54=) c.4014T>A (p.Ile1338=) n.5537T>A | |
| 5 | g.13841765A>C | CA359211350 | DNAH5 | c.5411T>G (p.Ile1804Ser) c.5366T>G (p.Ile1789Ser) n.5618T>G c.5519T>G (p.Ile1840Ser) c.4424T>G (p.Ile1475Ser) c.608T>G (p.Ile203Ser) c.161T>G (p.Ile54Ser) c.4013T>G (p.Ile1338Ser) n.5536T>G | |
| 5 | g.13841765A>G | CA359211367 | DNAH5 | c.5411T>C (p.Ile1804Thr) c.5366T>C (p.Ile1789Thr) n.5618T>C c.5519T>C (p.Ile1840Thr) c.4424T>C (p.Ile1475Thr) c.608T>C (p.Ile203Thr) c.161T>C (p.Ile54Thr) c.4013T>C (p.Ile1338Thr) n.5536T>C | |
| 5 | g.13841765A>T | CA359211369 | DNAH5 | c.5411T>A (p.Ile1804Asn) c.5366T>A (p.Ile1789Asn) n.5618T>A c.5519T>A (p.Ile1840Asn) c.4424T>A (p.Ile1475Asn) c.608T>A (p.Ile203Asn) c.161T>A (p.Ile54Asn) c.4013T>A (p.Ile1338Asn) n.5536T>A | |
| 5 | g.13841766T>A | CA359211381 | DNAH5 | c.5410A>T (p.Ile1804Phe) c.5365A>T (p.Ile1789Phe) n.5617A>T c.5518A>T (p.Ile1840Phe) c.4423A>T (p.Ile1475Phe) c.607A>T (p.Ile203Phe) c.160A>T (p.Ile54Phe) c.4012A>T (p.Ile1338Phe) n.5535A>T | |
| 5 | g.13841766T>C | CA359211375 | DNAH5 | c.5410A>G (p.Ile1804Val) c.5365A>G (p.Ile1789Val) n.5617A>G c.5518A>G (p.Ile1840Val) c.4423A>G (p.Ile1475Val) c.607A>G (p.Ile203Val) c.160A>G (p.Ile54Val) c.4012A>G (p.Ile1338Val) n.5535A>G | |
| 5 | g.13841766T>G | CA359211377 | DNAH5 | c.5410A>C (p.Ile1804Leu) c.5365A>C (p.Ile1789Leu) n.5617A>C c.5518A>C (p.Ile1840Leu) c.4423A>C (p.Ile1475Leu) c.607A>C (p.Ile203Leu) c.160A>C (p.Ile54Leu) c.4012A>C (p.Ile1338Leu) n.5535A>C | |
| 5 | g.13841767C>A | CA443256165 | DNAH5 | c.5409G>T (p.Val1803=) c.5364G>T (p.Val1788=) n.5616G>T c.5517G>T (p.Val1839=) c.4422G>T (p.Val1474=) c.606G>T (p.Val202=) c.159G>T (p.Val53=) c.4011G>T (p.Val1337=) n.5534G>T | |
| 5 | g.13841767C>G | CA443256169 | DNAH5 | c.5409G>C (p.Val1803=) c.5364G>C (p.Val1788=) n.5616G>C c.5517G>C (p.Val1839=) c.4422G>C (p.Val1474=) c.606G>C (p.Val202=) c.159G>C (p.Val53=) c.4011G>C (p.Val1337=) n.5534G>C | |
| 5 | g.13841767C>T | CA443256167 | DNAH5 | c.5409G>A (p.Val1803=) c.5364G>A (p.Val1788=) n.5616G>A c.5517G>A (p.Val1839=) c.4422G>A (p.Val1474=) c.606G>A (p.Val202=) c.159G>A (p.Val53=) c.4011G>A (p.Val1337=) n.5534G>A | ClinVar dbSNP COSMIC |
| 5 | g.13841768A>C | CA359211382 | DNAH5 | c.5408T>G (p.Val1803Gly) c.5363T>G (p.Val1788Gly) n.5615T>G c.5516T>G (p.Val1839Gly) c.4421T>G (p.Val1474Gly) c.605T>G (p.Val202Gly) c.158T>G (p.Val53Gly) c.4010T>G (p.Val1337Gly) n.5533T>G | |
| 5 | g.13841768A>G | CA359211383 | DNAH5 | c.5408T>C (p.Val1803Ala) c.5363T>C (p.Val1788Ala) n.5615T>C c.5516T>C (p.Val1839Ala) c.4421T>C (p.Val1474Ala) c.605T>C (p.Val202Ala) c.158T>C (p.Val53Ala) c.4010T>C (p.Val1337Ala) n.5533T>C | |
| 5 | g.13841768A>T | CA359211384 | DNAH5 | c.5408T>A (p.Val1803Glu) c.5363T>A (p.Val1788Glu) n.5615T>A c.5516T>A (p.Val1839Glu) c.4421T>A (p.Val1474Glu) c.605T>A (p.Val202Glu) c.158T>A (p.Val53Glu) c.4010T>A (p.Val1337Glu) n.5533T>A | |
| 5 | g.13841769C>A | CA359211385 | DNAH5 | c.5407G>T (p.Val1803Leu) c.5362G>T (p.Val1788Leu) n.5614G>T c.5515G>T (p.Val1839Leu) c.4420G>T (p.Val1474Leu) c.604G>T (p.Val202Leu) c.157G>T (p.Val53Leu) c.4009G>T (p.Val1337Leu) n.5532G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13841769C= | CA1528458372 | DNAH5 | c.5407G= (p.Val1803=) c.5362G= (p.Val1788=) n.5614G= c.5515G= (p.Val1839=) c.4420G= (p.Val1474=) c.604G= (p.Val202=) c.157G= (p.Val53=) c.4009G= (p.Val1337=) n.5532G= | |
| 5 | g.13841769C>G | CA359211388 | DNAH5 | c.5407G>C (p.Val1803Leu) c.5362G>C (p.Val1788Leu) n.5614G>C c.5515G>C (p.Val1839Leu) c.4420G>C (p.Val1474Leu) c.604G>C (p.Val202Leu) c.157G>C (p.Val53Leu) c.4009G>C (p.Val1337Leu) n.5532G>C | |
| 5 | g.13841769C>T | CA359211391 | DNAH5 | c.5407G>A (p.Val1803Met) c.5362G>A (p.Val1788Met) n.5614G>A c.5515G>A (p.Val1839Met) c.4420G>A (p.Val1474Met) c.604G>A (p.Val202Met) c.157G>A (p.Val53Met) c.4009G>A (p.Val1337Met) n.5532G>A | |
| 5 | g.13841770A>C | CA443256182 | DNAH5 | c.5406T>G (p.Leu1802=) c.5361T>G (p.Leu1787=) n.5613T>G c.5514T>G (p.Leu1838=) c.4419T>G (p.Leu1473=) c.603T>G (p.Leu201=) c.156T>G (p.Leu52=) c.4008T>G (p.Leu1336=) n.5531T>G | |
| 5 | g.13841770A>G | CA443256184 | DNAH5 | c.5406T>C (p.Leu1802=) c.5361T>C (p.Leu1787=) n.5613T>C c.5514T>C (p.Leu1838=) c.4419T>C (p.Leu1473=) c.603T>C (p.Leu201=) c.156T>C (p.Leu52=) c.4008T>C (p.Leu1336=) n.5531T>C | gnomAD v4 |
| 5 | g.13841770A>T | CA443256187 | DNAH5 | c.5406T>A (p.Leu1802=) c.5361T>A (p.Leu1787=) n.5613T>A c.5514T>A (p.Leu1838=) c.4419T>A (p.Leu1473=) c.603T>A (p.Leu201=) c.156T>A (p.Leu52=) c.4008T>A (p.Leu1336=) n.5531T>A | |
| 5 | g.13841771A>C | CA359211397 | DNAH5 | c.5405T>G (p.Leu1802Arg) c.5360T>G (p.Leu1787Arg) n.5612T>G c.5513T>G (p.Leu1838Arg) c.4418T>G (p.Leu1473Arg) c.602T>G (p.Leu201Arg) c.155T>G (p.Leu52Arg) c.4007T>G (p.Leu1336Arg) n.5530T>G | |
| 5 | g.13841771A>G | CA359211411 | DNAH5 | c.5405T>C (p.Leu1802Pro) c.5360T>C (p.Leu1787Pro) n.5612T>C c.5513T>C (p.Leu1838Pro) c.4418T>C (p.Leu1473Pro) c.602T>C (p.Leu201Pro) c.155T>C (p.Leu52Pro) c.4007T>C (p.Leu1336Pro) n.5530T>C | |
| 5 | g.13841771A>T | CA359211425 | DNAH5 | c.5405T>A (p.Leu1802His) c.5360T>A (p.Leu1787His) n.5612T>A c.5513T>A (p.Leu1838His) c.4418T>A (p.Leu1473His) c.602T>A (p.Leu201His) c.155T>A (p.Leu52His) c.4007T>A (p.Leu1336His) n.5530T>A | |
| 5 | g.13841772G>A | CA359211428 | DNAH5 | c.5404C>T (p.Leu1802Phe) c.5359C>T (p.Leu1787Phe) n.5611C>T c.5512C>T (p.Leu1838Phe) c.4417C>T (p.Leu1473Phe) c.601C>T (p.Leu201Phe) c.154C>T (p.Leu52Phe) c.4006C>T (p.Leu1336Phe) n.5529C>T | dbSNP gnomAD v4 |
| 5 | g.13841772G>C | CA359211429 | DNAH5 | c.5404C>G (p.Leu1802Val) c.5359C>G (p.Leu1787Val) n.5611C>G c.5512C>G (p.Leu1838Val) c.4417C>G (p.Leu1473Val) c.601C>G (p.Leu201Val) c.154C>G (p.Leu52Val) c.4006C>G (p.Leu1336Val) n.5529C>G | |
| 5 | g.13841772G= | CA1528458374 | DNAH5 | c.5404C= (p.Leu1802=) c.5359C= (p.Leu1787=) n.5611C= c.5512C= (p.Leu1838=) c.4417C= (p.Leu1473=) c.601C= (p.Leu201=) c.154C= (p.Leu52=) c.4006C= (p.Leu1336=) n.5529C= | |
| 5 | g.13841772G>T | CA359211431 | DNAH5 | c.5404C>A (p.Leu1802Ile) c.5359C>A (p.Leu1787Ile) n.5611C>A c.5512C>A (p.Leu1838Ile) c.4417C>A (p.Leu1473Ile) c.601C>A (p.Leu201Ile) c.154C>A (p.Leu52Ile) c.4006C>A (p.Leu1336Ile) n.5529C>A | |
| 5 | g.13841773A>C | CA359211434 | DNAH5 | c.5403T>G (p.His1801Gln) c.5358T>G (p.His1786Gln) n.5610T>G c.5511T>G (p.His1837Gln) c.4416T>G (p.His1472Gln) c.600T>G (p.His200Gln) c.153T>G (p.His51Gln) c.4005T>G (p.His1335Gln) n.5528T>G | |
| 5 | g.13841773A>G | CA443256206 | DNAH5 | c.5403T>C (p.His1801=) c.5358T>C (p.His1786=) n.5610T>C c.5511T>C (p.His1837=) c.4416T>C (p.His1472=) c.600T>C (p.His200=) c.153T>C (p.His51=) c.4005T>C (p.His1335=) n.5528T>C | |
| 5 | g.13841773A>T | CA359211436 | DNAH5 | c.5403T>A (p.His1801Gln) c.5358T>A (p.His1786Gln) n.5610T>A c.5511T>A (p.His1837Gln) c.4416T>A (p.His1472Gln) c.600T>A (p.His200Gln) c.153T>A (p.His51Gln) c.4005T>A (p.His1335Gln) n.5528T>A | |
| 5 | g.13841774T>A | CA359211446 | DNAH5 | c.5402A>T (p.His1801Leu) c.5357A>T (p.His1786Leu) n.5609A>T c.5510A>T (p.His1837Leu) c.4415A>T (p.His1472Leu) c.599A>T (p.His200Leu) c.152A>T (p.His51Leu) c.4004A>T (p.His1335Leu) n.5527A>T | |
| 5 | g.13841774T>C | CA359211457 | DNAH5 | c.5402A>G (p.His1801Arg) c.5357A>G (p.His1786Arg) n.5609A>G c.5510A>G (p.His1837Arg) c.4415A>G (p.His1472Arg) c.599A>G (p.His200Arg) c.152A>G (p.His51Arg) c.4004A>G (p.His1335Arg) n.5527A>G | gnomAD v4 |
| 5 | g.13841774T>G | CA359211460 | DNAH5 | c.5402A>C (p.His1801Pro) c.5357A>C (p.His1786Pro) n.5609A>C c.5510A>C (p.His1837Pro) c.4415A>C (p.His1472Pro) c.599A>C (p.His200Pro) c.152A>C (p.His51Pro) c.4004A>C (p.His1335Pro) n.5527A>C | |
| 5 | g.13841775G>A | CA113947690 | DNAH5 | c.5401C>T (p.His1801Tyr) c.5356C>T (p.His1786Tyr) n.5608C>T c.5509C>T (p.His1837Tyr) c.4414C>T (p.His1472Tyr) c.598C>T (p.His200Tyr) c.151C>T (p.His51Tyr) c.4003C>T (p.His1335Tyr) n.5526C>T | dbSNP gnomAD v4 |
| 5 | g.13841775G>C | CA359211465 | DNAH5 | c.5401C>G (p.His1801Asp) c.5356C>G (p.His1786Asp) n.5608C>G c.5509C>G (p.His1837Asp) c.4414C>G (p.His1472Asp) c.598C>G (p.His200Asp) c.151C>G (p.His51Asp) c.4003C>G (p.His1335Asp) n.5526C>G | |
| 5 | g.13841775G= | CA1528458375 | DNAH5 | c.5401C= (p.His1801=) c.5356C= (p.His1786=) n.5608C= c.5509C= (p.His1837=) c.4414C= (p.His1472=) c.598C= (p.His200=) c.151C= (p.His51=) c.4003C= (p.His1335=) n.5526C= | |
| 5 | g.13841775G>T | CA359211468 | DNAH5 | c.5401C>A (p.His1801Asn) c.5356C>A (p.His1786Asn) n.5608C>A c.5509C>A (p.His1837Asn) c.4414C>A (p.His1472Asn) c.598C>A (p.His200Asn) c.151C>A (p.His51Asn) c.4003C>A (p.His1335Asn) n.5526C>A | |
| 5 | g.13841776C>A | CA359211474 | DNAH5 | c.5400G>T (p.Leu1800Phe) c.5355G>T (p.Leu1785Phe) n.5607G>T c.5508G>T (p.Leu1836Phe) c.4413G>T (p.Leu1471Phe) c.597G>T (p.Leu199Phe) c.150G>T (p.Leu50Phe) c.4002G>T (p.Leu1334Phe) n.5525G>T | |
| 5 | g.13841776C= | CA1528458376 | DNAH5 | c.5400G= (p.Leu1800=) c.5355G= (p.Leu1785=) n.5607G= c.5508G= (p.Leu1836=) c.4413G= (p.Leu1471=) c.597G= (p.Leu199=) c.150G= (p.Leu50=) c.4002G= (p.Leu1334=) n.5525G= | |
| 5 | g.13841776C>G | CA359211473 | DNAH5 | c.5400G>C (p.Leu1800Phe) c.5355G>C (p.Leu1785Phe) n.5607G>C c.5508G>C (p.Leu1836Phe) c.4413G>C (p.Leu1471Phe) c.597G>C (p.Leu199Phe) c.150G>C (p.Leu50Phe) c.4002G>C (p.Leu1334Phe) n.5525G>C | |
| 5 | g.13841776C>T | CA443256223 | DNAH5 | c.5400G>A (p.Leu1800=) c.5355G>A (p.Leu1785=) n.5607G>A c.5508G>A (p.Leu1836=) c.4413G>A (p.Leu1471=) c.597G>A (p.Leu199=) c.150G>A (p.Leu50=) c.4002G>A (p.Leu1334=) n.5525G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13841777A= | CA1528458378 | DNAH5 | c.5399T= (p.Leu1800=) c.5354T= (p.Leu1785=) n.5606T= c.5507T= (p.Leu1836=) c.4412T= (p.Leu1471=) c.596T= (p.Leu199=) c.149T= (p.Leu50=) c.4001T= (p.Leu1334=) n.5524T= |