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.13839390T>A | CA359206227 | DNAH5 | c.5848A>T (p.Thr1950Ser) c.5803A>T (p.Thr1935Ser) n.6055A>T c.5956A>T (p.Thr1986Ser) c.4861A>T (p.Thr1621Ser) c.1045A>T (p.Thr349Ser) c.598A>T (p.Thr200Ser) c.4450A>T (p.Thr1484Ser) n.5973A>T | |
| 5 | g.13839390T>C | CA3203561 | DNAH5 | c.5848A>G (p.Thr1950Ala) c.5803A>G (p.Thr1935Ala) n.6055A>G c.5956A>G (p.Thr1986Ala) c.4861A>G (p.Thr1621Ala) c.1045A>G (p.Thr349Ala) c.598A>G (p.Thr200Ala) c.4450A>G (p.Thr1484Ala) n.5973A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13839390T>G | CA113945248 | DNAH5 | c.5848A>C (p.Thr1950Pro) c.5803A>C (p.Thr1935Pro) n.6055A>C c.5956A>C (p.Thr1986Pro) c.4861A>C (p.Thr1621Pro) c.1045A>C (p.Thr349Pro) c.598A>C (p.Thr200Pro) c.4450A>C (p.Thr1484Pro) n.5973A>C | dbSNP gnomAD v4 |
| 5 | g.13839390T= | CA1528462665 | DNAH5 | c.5848A= (p.Thr1950=) c.5803A= (p.Thr1935=) n.6055A= c.5956A= (p.Thr1986=) c.4861A= (p.Thr1621=) c.1045A= (p.Thr349=) c.598A= (p.Thr200=) c.4450A= (p.Thr1484=) n.5973A= | |
| 5 | g.13839390_13839391insCTTATAGAG | CA2569056908 | DNAH5 | c.5847_5848insCTCTATAAG (p.Cys1949_Thr1950insLeuTyrLys) c.5802_5803insCTCTATAAG (p.Cys1934_Thr1935insLeuTyrLys) n.6054_6055insCTCTATAAG c.5955_5956insCTCTATAAG (p.Cys1985_Thr1986insLeuTyrLys) c.4860_4861insCTCTATAAG (p.Cys1620_Thr1621insLeuTyrLys) c.1044_1045insCTCTATAAG (p.Cys348_Thr349insLeuTyrLys) c.597_598insCTCTATAAG (p.Cys199_Thr200insLeuTyrLys) c.4449_4450insCTCTATAAG (p.Cys1483_Thr1484insLeuTyrLys) n.5972_5973insCTCTATAAG | |
| 5 | g.13839391G>A | CA443254969 | DNAH5 | c.5847C>T (p.Cys1949=) c.5802C>T (p.Cys1934=) n.6054C>T c.5955C>T (p.Cys1985=) c.4860C>T (p.Cys1620=) c.1044C>T (p.Cys348=) c.597C>T (p.Cys199=) c.4449C>T (p.Cys1483=) n.5972C>T | gnomAD v4 |
| 5 | g.13839391G>C | CA359206244 | DNAH5 | c.5847C>G (p.Cys1949Trp) c.5802C>G (p.Cys1934Trp) n.6054C>G c.5955C>G (p.Cys1985Trp) c.4860C>G (p.Cys1620Trp) c.1044C>G (p.Cys348Trp) c.597C>G (p.Cys199Trp) c.4449C>G (p.Cys1483Trp) n.5972C>G | |
| 5 | g.13839391G>T | CA359206247 | DNAH5 | c.5847C>A (p.Cys1949Ter) c.5802C>A (p.Cys1934Ter) n.6054C>A c.5955C>A (p.Cys1985Ter) c.4860C>A (p.Cys1620Ter) c.1044C>A (p.Cys348Ter) c.597C>A (p.Cys199Ter) c.4449C>A (p.Cys1483Ter) n.5972C>A | |
| 5 | g.13839392C>A | CA359206251 | DNAH5 | c.5846G>T (p.Cys1949Phe) c.5801G>T (p.Cys1934Phe) n.6053G>T c.5954G>T (p.Cys1985Phe) c.4859G>T (p.Cys1620Phe) c.1043G>T (p.Cys348Phe) c.596G>T (p.Cys199Phe) c.4448G>T (p.Cys1483Phe) n.5971G>T | |
| 5 | g.13839392C= | CA1528462666 | DNAH5 | c.5846G= (p.Cys1949=) c.5801G= (p.Cys1934=) n.6053G= c.5954G= (p.Cys1985=) c.4859G= (p.Cys1620=) c.1043G= (p.Cys348=) c.596G= (p.Cys199=) c.4448G= (p.Cys1483=) n.5971G= | |
| 5 | g.13839392C>G | CA359206253 | DNAH5 | c.5846G>C (p.Cys1949Ser) c.5801G>C (p.Cys1934Ser) n.6053G>C c.5954G>C (p.Cys1985Ser) c.4859G>C (p.Cys1620Ser) c.1043G>C (p.Cys348Ser) c.596G>C (p.Cys199Ser) c.4448G>C (p.Cys1483Ser) n.5971G>C | |
| 5 | g.13839392C>T | CA359206252 | DNAH5 | c.5846G>A (p.Cys1949Tyr) c.5801G>A (p.Cys1934Tyr) n.6053G>A c.5954G>A (p.Cys1985Tyr) c.4859G>A (p.Cys1620Tyr) c.1043G>A (p.Cys348Tyr) c.596G>A (p.Cys199Tyr) c.4448G>A (p.Cys1483Tyr) n.5971G>A | ClinVar dbSNP |
| 5 | g.13839393A>C | CA359206254 | DNAH5 | c.5845T>G (p.Cys1949Gly) c.5800T>G (p.Cys1934Gly) n.6052T>G c.5953T>G (p.Cys1985Gly) c.4858T>G (p.Cys1620Gly) c.1042T>G (p.Cys348Gly) c.595T>G (p.Cys199Gly) c.4447T>G (p.Cys1483Gly) n.5970T>G | |
| 5 | g.13839393A>G | CA359206255 | DNAH5 | c.5845T>C (p.Cys1949Arg) c.5800T>C (p.Cys1934Arg) n.6052T>C c.5953T>C (p.Cys1985Arg) c.4858T>C (p.Cys1620Arg) c.1042T>C (p.Cys348Arg) c.595T>C (p.Cys199Arg) c.4447T>C (p.Cys1483Arg) n.5970T>C | |
| 5 | g.13839393A>T | CA359206256 | DNAH5 | c.5845T>A (p.Cys1949Ser) c.5800T>A (p.Cys1934Ser) n.6052T>A c.5953T>A (p.Cys1985Ser) c.4858T>A (p.Cys1620Ser) c.1042T>A (p.Cys348Ser) c.595T>A (p.Cys199Ser) c.4447T>A (p.Cys1483Ser) n.5970T>A | |
| 5 | g.13839394G>A | CA443254975 | DNAH5 | c.5844C>T (p.Gly1948=) c.5799C>T (p.Gly1933=) n.6051C>T c.5952C>T (p.Gly1984=) c.4857C>T (p.Gly1619=) c.1041C>T (p.Gly347=) c.594C>T (p.Gly198=) c.4446C>T (p.Gly1482=) n.5969C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13839394G>C | CA443254977 | DNAH5 | c.5844C>G (p.Gly1948=) c.5799C>G (p.Gly1933=) n.6051C>G c.5952C>G (p.Gly1984=) c.4857C>G (p.Gly1619=) c.1041C>G (p.Gly347=) c.594C>G (p.Gly198=) c.4446C>G (p.Gly1482=) n.5969C>G | |
| 5 | g.13839394G>T | CA443254978 | DNAH5 | c.5844C>A (p.Gly1948=) c.5799C>A (p.Gly1933=) n.6051C>A c.5952C>A (p.Gly1984=) c.4857C>A (p.Gly1619=) c.1041C>A (p.Gly347=) c.594C>A (p.Gly198=) c.4446C>A (p.Gly1482=) n.5969C>A | |
| 5 | g.13839395C>A | CA359206259 | DNAH5 | c.5843G>T (p.Gly1948Val) c.5798G>T (p.Gly1933Val) n.6050G>T c.5951G>T (p.Gly1984Val) c.4856G>T (p.Gly1619Val) c.1040G>T (p.Gly347Val) c.593G>T (p.Gly198Val) c.4445G>T (p.Gly1482Val) n.5968G>T | gnomAD v4 |
| 5 | g.13839395C>G | CA359206270 | DNAH5 | c.5843G>C (p.Gly1948Ala) c.5798G>C (p.Gly1933Ala) n.6050G>C c.5951G>C (p.Gly1984Ala) c.4856G>C (p.Gly1619Ala) c.1040G>C (p.Gly347Ala) c.593G>C (p.Gly198Ala) c.4445G>C (p.Gly1482Ala) n.5968G>C | gnomAD v4 |
| 5 | g.13839395C>T | CA359206273 | DNAH5 | c.5843G>A (p.Gly1948Asp) c.5798G>A (p.Gly1933Asp) n.6050G>A c.5951G>A (p.Gly1984Asp) c.4856G>A (p.Gly1619Asp) c.1040G>A (p.Gly347Asp) c.593G>A (p.Gly198Asp) c.4445G>A (p.Gly1482Asp) n.5968G>A | |
| 5 | g.13839396C>A | CA359206276 | DNAH5 | c.5842G>T (p.Gly1948Cys) c.5797G>T (p.Gly1933Cys) n.6049G>T c.5950G>T (p.Gly1984Cys) c.4855G>T (p.Gly1619Cys) c.1039G>T (p.Gly347Cys) c.592G>T (p.Gly198Cys) c.4444G>T (p.Gly1482Cys) n.5967G>T | COSMIC |
| 5 | g.13839396C>G | CA359206279 | DNAH5 | c.5842G>C (p.Gly1948Arg) c.5797G>C (p.Gly1933Arg) n.6049G>C c.5950G>C (p.Gly1984Arg) c.4855G>C (p.Gly1619Arg) c.1039G>C (p.Gly347Arg) c.592G>C (p.Gly198Arg) c.4444G>C (p.Gly1482Arg) n.5967G>C | |
| 5 | g.13839396C>T | CA359206283 | DNAH5 | c.5842G>A (p.Gly1948Ser) c.5797G>A (p.Gly1933Ser) n.6049G>A c.5950G>A (p.Gly1984Ser) c.4855G>A (p.Gly1619Ser) c.1039G>A (p.Gly347Ser) c.592G>A (p.Gly198Ser) c.4444G>A (p.Gly1482Ser) n.5967G>A | |
| 5 | g.13839397T>A | CA359206292 | DNAH5 | c.5841A>T (p.Leu1947Phe) c.5796A>T (p.Leu1932Phe) n.6048A>T c.5949A>T (p.Leu1983Phe) c.4854A>T (p.Leu1618Phe) c.1038A>T (p.Leu346Phe) c.591A>T (p.Leu197Phe) c.4443A>T (p.Leu1481Phe) n.5966A>T | |
| 5 | g.13839397T>C | CA443254983 | DNAH5 | c.5841A>G (p.Leu1947=) c.5796A>G (p.Leu1932=) n.6048A>G c.5949A>G (p.Leu1983=) c.4854A>G (p.Leu1618=) c.1038A>G (p.Leu346=) c.591A>G (p.Leu197=) c.4443A>G (p.Leu1481=) n.5966A>G | |
| 5 | g.13839397T>G | CA359206301 | DNAH5 | c.5841A>C (p.Leu1947Phe) c.5796A>C (p.Leu1932Phe) n.6048A>C c.5949A>C (p.Leu1983Phe) c.4854A>C (p.Leu1618Phe) c.1038A>C (p.Leu346Phe) c.591A>C (p.Leu197Phe) c.4443A>C (p.Leu1481Phe) n.5966A>C | |
| 5 | g.13839398A>C | CA359206311 | DNAH5 | c.5840T>G (p.Leu1947Ter) c.5795T>G (p.Leu1932Ter) n.6047T>G c.5948T>G (p.Leu1983Ter) c.4853T>G (p.Leu1618Ter) c.1037T>G (p.Leu346Ter) c.590T>G (p.Leu197Ter) c.4442T>G (p.Leu1481Ter) n.5965T>G | |
| 5 | g.13839398A>G | CA359206310 | DNAH5 | c.5840T>C (p.Leu1947Ser) c.5795T>C (p.Leu1932Ser) n.6047T>C c.5948T>C (p.Leu1983Ser) c.4853T>C (p.Leu1618Ser) c.1037T>C (p.Leu346Ser) c.590T>C (p.Leu197Ser) c.4442T>C (p.Leu1481Ser) n.5965T>C | |
| 5 | g.13839398A>T | CA359206309 | DNAH5 | c.5840T>A (p.Leu1947Ter) c.5795T>A (p.Leu1932Ter) n.6047T>A c.5948T>A (p.Leu1983Ter) c.4853T>A (p.Leu1618Ter) c.1037T>A (p.Leu346Ter) c.590T>A (p.Leu197Ter) c.4442T>A (p.Leu1481Ter) n.5965T>A | |
| 5 | g.13839399A>C | CA359206312 | DNAH5 | c.5839T>G (p.Leu1947Val) c.5794T>G (p.Leu1932Val) n.6046T>G c.5947T>G (p.Leu1983Val) c.4852T>G (p.Leu1618Val) c.1036T>G (p.Leu346Val) c.589T>G (p.Leu197Val) c.4441T>G (p.Leu1481Val) n.5964T>G | |
| 5 | g.13839399A>G | CA443254985 | DNAH5 | c.5839T>C (p.Leu1947=) c.5794T>C (p.Leu1932=) n.6046T>C c.5947T>C (p.Leu1983=) c.4852T>C (p.Leu1618=) c.1036T>C (p.Leu346=) c.589T>C (p.Leu197=) c.4441T>C (p.Leu1481=) n.5964T>C | |
| 5 | g.13839399A>T | CA359206318 | DNAH5 | c.5839T>A (p.Leu1947Ile) c.5794T>A (p.Leu1932Ile) n.6046T>A c.5947T>A (p.Leu1983Ile) c.4852T>A (p.Leu1618Ile) c.1036T>A (p.Leu346Ile) c.589T>A (p.Leu197Ile) c.4441T>A (p.Leu1481Ile) n.5964T>A | |
| 5 | g.13839400A>C | CA359206322 | DNAH5 | c.5838T>G (p.Phe1946Leu) c.5793T>G (p.Phe1931Leu) n.6045T>G c.5946T>G (p.Phe1982Leu) c.4851T>G (p.Phe1617Leu) c.1035T>G (p.Phe345Leu) c.588T>G (p.Phe196Leu) c.4440T>G (p.Phe1480Leu) n.5963T>G | |
| 5 | g.13839400A>G | CA443254988 | DNAH5 | c.5838T>C (p.Phe1946=) c.5793T>C (p.Phe1931=) n.6045T>C c.5946T>C (p.Phe1982=) c.4851T>C (p.Phe1617=) c.1035T>C (p.Phe345=) c.588T>C (p.Phe196=) c.4440T>C (p.Phe1480=) n.5963T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13839400A>T | CA359206331 | DNAH5 | c.5838T>A (p.Phe1946Leu) c.5793T>A (p.Phe1931Leu) n.6045T>A c.5946T>A (p.Phe1982Leu) c.4851T>A (p.Phe1617Leu) c.1035T>A (p.Phe345Leu) c.588T>A (p.Phe196Leu) c.4440T>A (p.Phe1480Leu) n.5963T>A | |
| 5 | g.13839401A>C | CA359206341 | DNAH5 | c.5837T>G (p.Phe1946Cys) c.5792T>G (p.Phe1931Cys) n.6044T>G c.5945T>G (p.Phe1982Cys) c.4850T>G (p.Phe1617Cys) c.1034T>G (p.Phe345Cys) c.587T>G (p.Phe196Cys) c.4439T>G (p.Phe1480Cys) n.5962T>G | |
| 5 | g.13839401A>G | CA359206355 | DNAH5 | c.5837T>C (p.Phe1946Ser) c.5792T>C (p.Phe1931Ser) n.6044T>C c.5945T>C (p.Phe1982Ser) c.4850T>C (p.Phe1617Ser) c.1034T>C (p.Phe345Ser) c.587T>C (p.Phe196Ser) c.4439T>C (p.Phe1480Ser) n.5962T>C | |
| 5 | g.13839401A>T | CA359206358 | DNAH5 | c.5837T>A (p.Phe1946Tyr) c.5792T>A (p.Phe1931Tyr) n.6044T>A c.5945T>A (p.Phe1982Tyr) c.4850T>A (p.Phe1617Tyr) c.1034T>A (p.Phe345Tyr) c.587T>A (p.Phe196Tyr) c.4439T>A (p.Phe1480Tyr) n.5962T>A | |
| 5 | g.13839402A= | CA1528462667 | DNAH5 | c.5836T= (p.Phe1946=) c.5791T= (p.Phe1931=) n.6043T= c.5944T= (p.Phe1982=) c.4849T= (p.Phe1617=) c.1033T= (p.Phe345=) c.586T= (p.Phe196=) c.4438T= (p.Phe1480=) n.5961T= | |
| 5 | g.13839402A>C | CA359206362 | DNAH5 | c.5836T>G (p.Phe1946Val) c.5791T>G (p.Phe1931Val) n.6043T>G c.5944T>G (p.Phe1982Val) c.4849T>G (p.Phe1617Val) c.1033T>G (p.Phe345Val) c.586T>G (p.Phe196Val) c.4438T>G (p.Phe1480Val) n.5961T>G | |
| 5 | g.13839402A>G | CA3203562 | DNAH5 | c.5836T>C (p.Phe1946Leu) c.5791T>C (p.Phe1931Leu) n.6043T>C c.5944T>C (p.Phe1982Leu) c.4849T>C (p.Phe1617Leu) c.1033T>C (p.Phe345Leu) c.586T>C (p.Phe196Leu) c.4438T>C (p.Phe1480Leu) n.5961T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13839402A>T | CA359206363 | DNAH5 | c.5836T>A (p.Phe1946Ile) c.5791T>A (p.Phe1931Ile) n.6043T>A c.5944T>A (p.Phe1982Ile) c.4849T>A (p.Phe1617Ile) c.1033T>A (p.Phe345Ile) c.586T>A (p.Phe196Ile) c.4438T>A (p.Phe1480Ile) n.5961T>A | |
| 5 | g.13839403T>A | CA359206364 | DNAH5 | c.5835A>T (p.Glu1945Asp) c.5790A>T (p.Glu1930Asp) n.6042A>T c.5943A>T (p.Glu1981Asp) c.4848A>T (p.Glu1616Asp) c.1032A>T (p.Glu344Asp) c.585A>T (p.Glu195Asp) c.4437A>T (p.Glu1479Asp) n.5960A>T | |
| 5 | g.13839403T>C | CA443254993 | DNAH5 | c.5835A>G (p.Glu1945=) c.5790A>G (p.Glu1930=) n.6042A>G c.5943A>G (p.Glu1981=) c.4848A>G (p.Glu1616=) c.1032A>G (p.Glu344=) c.585A>G (p.Glu195=) c.4437A>G (p.Glu1479=) n.5960A>G | |
| 5 | g.13839403T>G | CA359206365 | DNAH5 | c.5835A>C (p.Glu1945Asp) c.5790A>C (p.Glu1930Asp) n.6042A>C c.5943A>C (p.Glu1981Asp) c.4848A>C (p.Glu1616Asp) c.1032A>C (p.Glu344Asp) c.585A>C (p.Glu195Asp) c.4437A>C (p.Glu1479Asp) n.5960A>C | |
| 5 | g.13839404T>A | CA359206374 | DNAH5 | c.5834A>T (p.Glu1945Val) c.5789A>T (p.Glu1930Val) n.6041A>T c.5942A>T (p.Glu1981Val) c.4847A>T (p.Glu1616Val) c.1031A>T (p.Glu344Val) c.584A>T (p.Glu195Val) c.4436A>T (p.Glu1479Val) n.5959A>T | |
| 5 | g.13839404T>C | CA359206370 | DNAH5 | c.5834A>G (p.Glu1945Gly) c.5789A>G (p.Glu1930Gly) n.6041A>G c.5942A>G (p.Glu1981Gly) c.4847A>G (p.Glu1616Gly) c.1031A>G (p.Glu344Gly) c.584A>G (p.Glu195Gly) c.4436A>G (p.Glu1479Gly) n.5959A>G | gnomAD v4 |
| 5 | g.13839404T>G | CA359206367 | DNAH5 | c.5834A>C (p.Glu1945Ala) c.5789A>C (p.Glu1930Ala) n.6041A>C c.5942A>C (p.Glu1981Ala) c.4847A>C (p.Glu1616Ala) c.1031A>C (p.Glu344Ala) c.584A>C (p.Glu195Ala) c.4436A>C (p.Glu1479Ala) n.5959A>C | |
| 5 | g.13839405C>A | CA359206375 | DNAH5 | c.5833G>T (p.Glu1945Ter) c.5788G>T (p.Glu1930Ter) n.6040G>T c.5941G>T (p.Glu1981Ter) c.4846G>T (p.Glu1616Ter) c.1030G>T (p.Glu344Ter) c.583G>T (p.Glu195Ter) c.4435G>T (p.Glu1479Ter) n.5958G>T | gnomAD v4 |