Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51912515C>A | CA450416009 | PKHD1 | c.6183G>T (p.Val2061=) c.5541G>T (p.Val1847=) c.5472G>T (p.Val1824=) c.258G>T (p.Val86=) c.6108G>T (p.Val2036=) c.5919G>T (p.Val1973=) c.4323G>T (p.Val1441=) n.6459G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51912515C= | CA1628583460 | PKHD1 | c.6183G= (p.Val2061=) c.5541G= (p.Val1847=) c.5472G= (p.Val1824=) c.258G= (p.Val86=) c.6108G= (p.Val2036=) c.5919G= (p.Val1973=) c.4323G= (p.Val1441=) n.6459G= | |
6 | g.51912515C>G | CA450416008 | PKHD1 | c.6183G>C (p.Val2061=) c.5541G>C (p.Val1847=) c.5472G>C (p.Val1824=) c.258G>C (p.Val86=) c.6108G>C (p.Val2036=) c.5919G>C (p.Val1973=) c.4323G>C (p.Val1441=) n.6459G>C | |
6 | g.51912515C>T | CA450416007 | PKHD1 | c.6183G>A (p.Val2061=) c.5541G>A (p.Val1847=) c.5472G>A (p.Val1824=) c.258G>A (p.Val86=) c.6108G>A (p.Val2036=) c.5919G>A (p.Val1973=) c.4323G>A (p.Val1441=) n.6459G>A | ClinVar |
6 | g.51912516A>C | CA364439865 | PKHD1 | c.6182T>G (p.Val2061Gly) c.5540T>G (p.Val1847Gly) c.5471T>G (p.Val1824Gly) c.257T>G (p.Val86Gly) c.6107T>G (p.Val2036Gly) c.5918T>G (p.Val1973Gly) c.4322T>G (p.Val1441Gly) n.6458T>G | |
6 | g.51912516A>G | CA364439866 | PKHD1 | c.6182T>C (p.Val2061Ala) c.5540T>C (p.Val1847Ala) c.5471T>C (p.Val1824Ala) c.257T>C (p.Val86Ala) c.6107T>C (p.Val2036Ala) c.5918T>C (p.Val1973Ala) c.4322T>C (p.Val1441Ala) n.6458T>C | |
6 | g.51912516A>T | CA364439867 | PKHD1 | c.6182T>A (p.Val2061Glu) c.5540T>A (p.Val1847Glu) c.5471T>A (p.Val1824Glu) c.257T>A (p.Val86Glu) c.6107T>A (p.Val2036Glu) c.5918T>A (p.Val1973Glu) c.4322T>A (p.Val1441Glu) n.6458T>A | |
6 | g.51912517C>A | CA364439870 | PKHD1 | c.6181G>T (p.Val2061Leu) c.5539G>T (p.Val1847Leu) c.5470G>T (p.Val1824Leu) c.256G>T (p.Val86Leu) c.6106G>T (p.Val2036Leu) c.5917G>T (p.Val1973Leu) c.4321G>T (p.Val1441Leu) n.6457G>T | |
6 | g.51912517C>G | CA364439868 | PKHD1 | c.6181G>C (p.Val2061Leu) c.5539G>C (p.Val1847Leu) c.5470G>C (p.Val1824Leu) c.256G>C (p.Val86Leu) c.6106G>C (p.Val2036Leu) c.5917G>C (p.Val1973Leu) c.4321G>C (p.Val1441Leu) n.6457G>C | |
6 | g.51912517C>T | CA364439869 | PKHD1 | c.6181G>A (p.Val2061Met) c.5539G>A (p.Val1847Met) c.5470G>A (p.Val1824Met) c.256G>A (p.Val86Met) c.6106G>A (p.Val2036Met) c.5917G>A (p.Val1973Met) c.4321G>A (p.Val1441Met) n.6457G>A | |
6 | g.51912518T>A | CA450416010 | PKHD1 | c.6180A>T (p.Thr2060=) c.5538A>T (p.Thr1846=) c.5469A>T (p.Thr1823=) c.255A>T (p.Thr85=) c.6105A>T (p.Thr2035=) c.5916A>T (p.Thr1972=) c.4320A>T (p.Thr1440=) n.6456A>T | |
6 | g.51912518T>C | CA450416011 | PKHD1 | c.6180A>G (p.Thr2060=) c.5538A>G (p.Thr1846=) c.5469A>G (p.Thr1823=) c.255A>G (p.Thr85=) c.6105A>G (p.Thr2035=) c.5916A>G (p.Thr1972=) c.4320A>G (p.Thr1440=) n.6456A>G | |
6 | g.51912518T>G | CA450416012 | PKHD1 | c.6180A>C (p.Thr2060=) c.5538A>C (p.Thr1846=) c.5469A>C (p.Thr1823=) c.255A>C (p.Thr85=) c.6105A>C (p.Thr2035=) c.5916A>C (p.Thr1972=) c.4320A>C (p.Thr1440=) n.6456A>C | |
6 | g.51912519G>A | CA364439871 | PKHD1 | c.6179C>T (p.Thr2060Ile) c.5537C>T (p.Thr1846Ile) c.5468C>T (p.Thr1823Ile) c.254C>T (p.Thr85Ile) c.6104C>T (p.Thr2035Ile) c.5915C>T (p.Thr1972Ile) c.4319C>T (p.Thr1440Ile) n.6455C>T | |
6 | g.51912519G>C | CA364439872 | PKHD1 | c.6179C>G (p.Thr2060Arg) c.5537C>G (p.Thr1846Arg) c.5468C>G (p.Thr1823Arg) c.254C>G (p.Thr85Arg) c.6104C>G (p.Thr2035Arg) c.5915C>G (p.Thr1972Arg) c.4319C>G (p.Thr1440Arg) n.6455C>G | gnomAD v4 |
6 | g.51912519G>T | CA364439873 | PKHD1 | c.6179C>A (p.Thr2060Lys) c.5537C>A (p.Thr1846Lys) c.5468C>A (p.Thr1823Lys) c.254C>A (p.Thr85Lys) c.6104C>A (p.Thr2035Lys) c.5915C>A (p.Thr1972Lys) c.4319C>A (p.Thr1440Lys) n.6455C>A | |
6 | g.51912520T>A | CA364439874 | PKHD1 | c.6178A>T (p.Thr2060Ser) c.5536A>T (p.Thr1846Ser) c.5467A>T (p.Thr1823Ser) c.253A>T (p.Thr85Ser) c.6103A>T (p.Thr2035Ser) c.5914A>T (p.Thr1972Ser) c.4318A>T (p.Thr1440Ser) n.6454A>T | |
6 | g.51912520T>C | CA364439875 | PKHD1 | c.6178A>G (p.Thr2060Ala) c.5536A>G (p.Thr1846Ala) c.5467A>G (p.Thr1823Ala) c.253A>G (p.Thr85Ala) c.6103A>G (p.Thr2035Ala) c.5914A>G (p.Thr1972Ala) c.4318A>G (p.Thr1440Ala) n.6454A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51912520T>G | CA364439876 | PKHD1 | c.6178A>C (p.Thr2060Pro) c.5536A>C (p.Thr1846Pro) c.5467A>C (p.Thr1823Pro) c.253A>C (p.Thr85Pro) c.6103A>C (p.Thr2035Pro) c.5914A>C (p.Thr1972Pro) c.4318A>C (p.Thr1440Pro) n.6454A>C | |
6 | g.51912520T= | CA1628583465 | PKHD1 | c.6178A= (p.Thr2060=) c.5536A= (p.Thr1846=) c.5467A= (p.Thr1823=) c.253A= (p.Thr85=) c.6103A= (p.Thr2035=) c.5914A= (p.Thr1972=) c.4318A= (p.Thr1440=) n.6454A= | |
6 | g.51912521G>A | CA450416013 | PKHD1 | c.6177C>T (p.Asp2059=) c.5535C>T (p.Asp1845=) c.5466C>T (p.Asp1822=) c.252C>T (p.Asp84=) c.6102C>T (p.Asp2034=) c.5913C>T (p.Asp1971=) c.4317C>T (p.Asp1439=) n.6453C>T | ClinVar dbSNP |
6 | g.51912521G>C | CA364439877 | PKHD1 | c.6177C>G (p.Asp2059Glu) c.5535C>G (p.Asp1845Glu) c.5466C>G (p.Asp1822Glu) c.252C>G (p.Asp84Glu) c.6102C>G (p.Asp2034Glu) c.5913C>G (p.Asp1971Glu) c.4317C>G (p.Asp1439Glu) n.6453C>G | |
6 | g.51912521G= | CA1628583467 | PKHD1 | c.6177C= (p.Asp2059=) c.5535C= (p.Asp1845=) c.5466C= (p.Asp1822=) c.252C= (p.Asp84=) c.6102C= (p.Asp2034=) c.5913C= (p.Asp1971=) c.4317C= (p.Asp1439=) n.6453C= | |
6 | g.51912521G>T | CA364439878 | PKHD1 | c.6177C>A (p.Asp2059Glu) c.5535C>A (p.Asp1845Glu) c.5466C>A (p.Asp1822Glu) c.252C>A (p.Asp84Glu) c.6102C>A (p.Asp2034Glu) c.5913C>A (p.Asp1971Glu) c.4317C>A (p.Asp1439Glu) n.6453C>A | |
6 | g.51912522T>A | CA364439879 | PKHD1 | c.6176A>T (p.Asp2059Val) c.5534A>T (p.Asp1845Val) c.5465A>T (p.Asp1822Val) c.251A>T (p.Asp84Val) c.6101A>T (p.Asp2034Val) c.5912A>T (p.Asp1971Val) c.4316A>T (p.Asp1439Val) n.6452A>T | |
6 | g.51912522T>C | CA364439880 | PKHD1 | c.6176A>G (p.Asp2059Gly) c.5534A>G (p.Asp1845Gly) c.5465A>G (p.Asp1822Gly) c.251A>G (p.Asp84Gly) c.6101A>G (p.Asp2034Gly) c.5912A>G (p.Asp1971Gly) c.4316A>G (p.Asp1439Gly) n.6452A>G | gnomAD v4 |
6 | g.51912522T>G | CA364439881 | PKHD1 | c.6176A>C (p.Asp2059Ala) c.5534A>C (p.Asp1845Ala) c.5465A>C (p.Asp1822Ala) c.251A>C (p.Asp84Ala) c.6101A>C (p.Asp2034Ala) c.5912A>C (p.Asp1971Ala) c.4316A>C (p.Asp1439Ala) n.6452A>C | |
6 | g.51912523C>A | CA364439883 | PKHD1 | c.6175G>T (p.Asp2059Tyr) c.5533G>T (p.Asp1845Tyr) c.5464G>T (p.Asp1822Tyr) c.250G>T (p.Asp84Tyr) c.6100G>T (p.Asp2034Tyr) c.5911G>T (p.Asp1971Tyr) c.4315G>T (p.Asp1439Tyr) n.6451G>T | |
6 | g.51912523C= | CA1628583470 | PKHD1 | c.6175G= (p.Asp2059=) c.5533G= (p.Asp1845=) c.5464G= (p.Asp1822=) c.250G= (p.Asp84=) c.6100G= (p.Asp2034=) c.5911G= (p.Asp1971=) c.4315G= (p.Asp1439=) n.6451G= | |
6 | g.51912523C>G | CA364439882 | PKHD1 | c.6175G>C (p.Asp2059His) c.5533G>C (p.Asp1845His) c.5464G>C (p.Asp1822His) c.250G>C (p.Asp84His) c.6100G>C (p.Asp2034His) c.5911G>C (p.Asp1971His) c.4315G>C (p.Asp1439His) n.6451G>C | |
6 | g.51912523C>T | CA3852318 | PKHD1 | c.6175G>A (p.Asp2059Asn) c.5533G>A (p.Asp1845Asn) c.5464G>A (p.Asp1822Asn) c.250G>A (p.Asp84Asn) c.6100G>A (p.Asp2034Asn) c.5911G>A (p.Asp1971Asn) c.4315G>A (p.Asp1439Asn) n.6451G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51912523_51912525dup | CA2679081922 | PKHD1 | c.6173_6175dup (p.Leu2058_Asp2059insVal) c.5531_5533dup (p.Leu1844_Asp1845insVal) c.5462_5464dup (p.Leu1821_Asp1822insVal) c.248_250dup (p.Leu83_Asp84insVal) c.6098_6100dup (p.Leu2033_Asp2034insVal) c.5909_5911dup (p.Leu1970_Asp1971insVal) c.4313_4315dup (p.Leu1438_Asp1439insVal) n.6449_6451dup | gnomAD v4 |
6 | g.51912524T>A | CA450416014 | PKHD1 | c.6174A>T (p.Leu2058=) c.5532A>T (p.Leu1844=) c.5463A>T (p.Leu1821=) c.249A>T (p.Leu83=) c.6099A>T (p.Leu2033=) c.5910A>T (p.Leu1970=) c.4314A>T (p.Leu1438=) n.6450A>T | |
6 | g.51912524T>C | CA450416015 | PKHD1 | c.6174A>G (p.Leu2058=) c.5532A>G (p.Leu1844=) c.5463A>G (p.Leu1821=) c.249A>G (p.Leu83=) c.6099A>G (p.Leu2033=) c.5910A>G (p.Leu1970=) c.4314A>G (p.Leu1438=) n.6450A>G | |
6 | g.51912524T>G | CA450416016 | PKHD1 | c.6174A>C (p.Leu2058=) c.5532A>C (p.Leu1844=) c.5463A>C (p.Leu1821=) c.249A>C (p.Leu83=) c.6099A>C (p.Leu2033=) c.5910A>C (p.Leu1970=) c.4314A>C (p.Leu1438=) n.6450A>C | |
6 | g.51912525A= | CA1628583472 | PKHD1 | c.6173T= (p.Leu2058=) c.5531T= (p.Leu1844=) c.5462T= (p.Leu1821=) c.248T= (p.Leu83=) c.6098T= (p.Leu2033=) c.5909T= (p.Leu1970=) c.4313T= (p.Leu1438=) n.6449T= | |
6 | g.51912525A>C | CA364439884 | PKHD1 | c.6173T>G (p.Leu2058Arg) c.5531T>G (p.Leu1844Arg) c.5462T>G (p.Leu1821Arg) c.248T>G (p.Leu83Arg) c.6098T>G (p.Leu2033Arg) c.5909T>G (p.Leu1970Arg) c.4313T>G (p.Leu1438Arg) n.6449T>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51912525A>G | CA364439885 | PKHD1 | c.6173T>C (p.Leu2058Pro) c.5531T>C (p.Leu1844Pro) c.5462T>C (p.Leu1821Pro) c.248T>C (p.Leu83Pro) c.6098T>C (p.Leu2033Pro) c.5909T>C (p.Leu1970Pro) c.4313T>C (p.Leu1438Pro) n.6449T>C | |
6 | g.51912525A>T | CA364439886 | PKHD1 | c.6173T>A (p.Leu2058Gln) c.5531T>A (p.Leu1844Gln) c.5462T>A (p.Leu1821Gln) c.248T>A (p.Leu83Gln) c.6098T>A (p.Leu2033Gln) c.5909T>A (p.Leu1970Gln) c.4313T>A (p.Leu1438Gln) n.6449T>A | |
6 | g.51912526G>A | CA450416017 | PKHD1 | c.6172C>T (p.Leu2058=) c.5530C>T (p.Leu1844=) c.5461C>T (p.Leu1821=) c.247C>T (p.Leu83=) c.6097C>T (p.Leu2033=) c.5908C>T (p.Leu1970=) c.4312C>T (p.Leu1438=) n.6448C>T | |
6 | g.51912526G>C | CA364439887 | PKHD1 | c.6172C>G (p.Leu2058Val) c.5530C>G (p.Leu1844Val) c.5461C>G (p.Leu1821Val) c.247C>G (p.Leu83Val) c.6097C>G (p.Leu2033Val) c.5908C>G (p.Leu1970Val) c.4312C>G (p.Leu1438Val) n.6448C>G | |
6 | g.51912526G>T | CA364439888 | PKHD1 | c.6172C>A (p.Leu2058Ile) c.5530C>A (p.Leu1844Ile) c.5461C>A (p.Leu1821Ile) c.247C>A (p.Leu83Ile) c.6097C>A (p.Leu2033Ile) c.5908C>A (p.Leu1970Ile) c.4312C>A (p.Leu1438Ile) n.6448C>A | |
6 | g.51912527G>A | CA450416018 | PKHD1 | c.6171C>T (p.Ala2057=) c.5529C>T (p.Ala1843=) c.5460C>T (p.Ala1820=) c.246C>T (p.Ala82=) c.6096C>T (p.Ala2032=) c.5907C>T (p.Ala1969=) c.4311C>T (p.Ala1437=) n.6447C>T | gnomAD v4 |
6 | g.51912527G>C | CA450416020 | PKHD1 | c.6171C>G (p.Ala2057=) c.5529C>G (p.Ala1843=) c.5460C>G (p.Ala1820=) c.246C>G (p.Ala82=) c.6096C>G (p.Ala2032=) c.5907C>G (p.Ala1969=) c.4311C>G (p.Ala1437=) n.6447C>G | gnomAD v4 |
6 | g.51912527G>T | CA450416019 | PKHD1 | c.6171C>A (p.Ala2057=) c.5529C>A (p.Ala1843=) c.5460C>A (p.Ala1820=) c.246C>A (p.Ala82=) c.6096C>A (p.Ala2032=) c.5907C>A (p.Ala1969=) c.4311C>A (p.Ala1437=) n.6447C>A | |
6 | g.51912528G>A | CA364439889 | PKHD1 | c.6170C>T (p.Ala2057Val) c.5528C>T (p.Ala1843Val) c.5459C>T (p.Ala1820Val) c.245C>T (p.Ala82Val) c.6095C>T (p.Ala2032Val) c.5906C>T (p.Ala1969Val) c.4310C>T (p.Ala1437Val) n.6446C>T | |
6 | g.51912528G>C | CA364439890 | PKHD1 | c.6170C>G (p.Ala2057Gly) c.5528C>G (p.Ala1843Gly) c.5459C>G (p.Ala1820Gly) c.245C>G (p.Ala82Gly) c.6095C>G (p.Ala2032Gly) c.5906C>G (p.Ala1969Gly) c.4310C>G (p.Ala1437Gly) n.6446C>G | gnomAD v4 |
6 | g.51912528G= | CA1628583475 | PKHD1 | c.6170C= (p.Ala2057=) c.5528C= (p.Ala1843=) c.5459C= (p.Ala1820=) c.245C= (p.Ala82=) c.6095C= (p.Ala2032=) c.5906C= (p.Ala1969=) c.4310C= (p.Ala1437=) n.6446C= | |
6 | g.51912528G>T | CA138910857 | PKHD1 | c.6170C>A (p.Ala2057Asp) c.5528C>A (p.Ala1843Asp) c.5459C>A (p.Ala1820Asp) c.245C>A (p.Ala82Asp) c.6095C>A (p.Ala2032Asp) c.5906C>A (p.Ala1969Asp) c.4310C>A (p.Ala1437Asp) n.6446C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51912529C>A | CA364439891 | PKHD1 | c.6169G>T (p.Ala2057Ser) c.5527G>T (p.Ala1843Ser) c.5458G>T (p.Ala1820Ser) c.244G>T (p.Ala82Ser) c.6094G>T (p.Ala2032Ser) c.5905G>T (p.Ala1969Ser) c.4309G>T (p.Ala1437Ser) n.6445G>T | COSMIC COSMIC |
6 | g.51912529C= | CA1628583478 | PKHD1 | c.6169G= (p.Ala2057=) c.5527G= (p.Ala1843=) c.5458G= (p.Ala1820=) c.244G= (p.Ala82=) c.6094G= (p.Ala2032=) c.5905G= (p.Ala1969=) c.4309G= (p.Ala1437=) n.6445G= | |
6 | g.51912529C>G | CA364439892 | PKHD1 | c.6169G>C (p.Ala2057Pro) c.5527G>C (p.Ala1843Pro) c.5458G>C (p.Ala1820Pro) c.244G>C (p.Ala82Pro) c.6094G>C (p.Ala2032Pro) c.5905G>C (p.Ala1969Pro) c.4309G>C (p.Ala1437Pro) n.6445G>C | |
6 | g.51912529C>T | CA138910859 | PKHD1 | c.6169G>A (p.Ala2057Thr) c.5527G>A (p.Ala1843Thr) c.5458G>A (p.Ala1820Thr) c.244G>A (p.Ala82Thr) c.6094G>A (p.Ala2032Thr) c.5905G>A (p.Ala1969Thr) c.4309G>A (p.Ala1437Thr) n.6445G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51912530A= | CA1628583481 | PKHD1 | c.6168T= (p.His2056=) c.5526T= (p.His1842=) c.5457T= (p.His1819=) c.243T= (p.His81=) c.6093T= (p.His2031=) c.5904T= (p.His1968=) c.4308T= (p.His1436=) n.6444T= | |
6 | g.51912530A>C | CA364439893 | PKHD1 | c.6168T>G (p.His2056Gln) c.5526T>G (p.His1842Gln) c.5457T>G (p.His1819Gln) c.243T>G (p.His81Gln) c.6093T>G (p.His2031Gln) c.5904T>G (p.His1968Gln) c.4308T>G (p.His1436Gln) n.6444T>G | dbSNP |
6 | g.51912530A>G | CA450416021 | PKHD1 | c.6168T>C (p.His2056=) c.5526T>C (p.His1842=) c.5457T>C (p.His1819=) c.243T>C (p.His81=) c.6093T>C (p.His2031=) c.5904T>C (p.His1968=) c.4308T>C (p.His1436=) n.6444T>C | |
6 | g.51912530A>T | CA364439894 | PKHD1 | c.6168T>A (p.His2056Gln) c.5526T>A (p.His1842Gln) c.5457T>A (p.His1819Gln) c.243T>A (p.His81Gln) c.6093T>A (p.His2031Gln) c.5904T>A (p.His1968Gln) c.4308T>A (p.His1436Gln) n.6444T>A | dbSNP |
6 | g.51912531T>A | CA364439897 | PKHD1 | c.6167A>T (p.His2056Leu) c.5525A>T (p.His1842Leu) c.5456A>T (p.His1819Leu) c.242A>T (p.His81Leu) c.6092A>T (p.His2031Leu) c.5903A>T (p.His1968Leu) c.4307A>T (p.His1436Leu) n.6443A>T | |
6 | g.51912531T>C | CA364439895 | PKHD1 | c.6167A>G (p.His2056Arg) c.5525A>G (p.His1842Arg) c.5456A>G (p.His1819Arg) c.242A>G (p.His81Arg) c.6092A>G (p.His2031Arg) c.5903A>G (p.His1968Arg) c.4307A>G (p.His1436Arg) n.6443A>G | |
6 | g.51912531T>G | CA364439896 | PKHD1 | c.6167A>C (p.His2056Pro) c.5525A>C (p.His1842Pro) c.5456A>C (p.His1819Pro) c.242A>C (p.His81Pro) c.6092A>C (p.His2031Pro) c.5903A>C (p.His1968Pro) c.4307A>C (p.His1436Pro) n.6443A>C | |
6 | g.51912532G>A | CA364439898 | PKHD1 | c.6166C>T (p.His2056Tyr) c.5524C>T (p.His1842Tyr) c.5455C>T (p.His1819Tyr) c.241C>T (p.His81Tyr) c.6091C>T (p.His2031Tyr) c.5902C>T (p.His1968Tyr) c.4306C>T (p.His1436Tyr) n.6442C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51912532G>C | CA364439899 | PKHD1 | c.6166C>G (p.His2056Asp) c.5524C>G (p.His1842Asp) c.5455C>G (p.His1819Asp) c.241C>G (p.His81Asp) c.6091C>G (p.His2031Asp) c.5902C>G (p.His1968Asp) c.4306C>G (p.His1436Asp) n.6442C>G | |
6 | g.51912532G= | CA1628583484 | PKHD1 | c.6166C= (p.His2056=) c.5524C= (p.His1842=) c.5455C= (p.His1819=) c.241C= (p.His81=) c.6091C= (p.His2031=) c.5902C= (p.His1968=) c.4306C= (p.His1436=) n.6442C= | |
6 | g.51912532G>T | CA364439900 | PKHD1 | c.6166C>A (p.His2056Asn) c.5524C>A (p.His1842Asn) c.5455C>A (p.His1819Asn) c.241C>A (p.His81Asn) c.6091C>A (p.His2031Asn) c.5902C>A (p.His1968Asn) c.4306C>A (p.His1436Asn) n.6442C>A | |
6 | g.51912533G>A | CA450416022 | PKHD1 | c.6165C>T (p.Ala2055=) c.5523C>T (p.Ala1841=) c.5454C>T (p.Ala1818=) c.240C>T (p.Ala80=) c.6090C>T (p.Ala2030=) c.5901C>T (p.Ala1967=) c.4305C>T (p.Ala1435=) n.6441C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.51912533G>C | CA450416023 | PKHD1 | c.6165C>G (p.Ala2055=) c.5523C>G (p.Ala1841=) c.5454C>G (p.Ala1818=) c.240C>G (p.Ala80=) c.6090C>G (p.Ala2030=) c.5901C>G (p.Ala1967=) c.4305C>G (p.Ala1435=) n.6441C>G | |
6 | g.51912533G= | CA1628583487 | PKHD1 | c.6165C= (p.Ala2055=) c.5523C= (p.Ala1841=) c.5454C= (p.Ala1818=) c.240C= (p.Ala80=) c.6090C= (p.Ala2030=) c.5901C= (p.Ala1967=) c.4305C= (p.Ala1435=) n.6441C= | |
6 | g.51912533G>T | CA450416024 | PKHD1 | c.6165C>A (p.Ala2055=) c.5523C>A (p.Ala1841=) c.5454C>A (p.Ala1818=) c.240C>A (p.Ala80=) c.6090C>A (p.Ala2030=) c.5901C>A (p.Ala1967=) c.4305C>A (p.Ala1435=) n.6441C>A | |
6 | g.51912534G>A | CA364439901 | PKHD1 | c.6164C>T (p.Ala2055Val) c.5522C>T (p.Ala1841Val) c.5453C>T (p.Ala1818Val) c.239C>T (p.Ala80Val) c.6089C>T (p.Ala2030Val) c.5900C>T (p.Ala1967Val) c.4304C>T (p.Ala1435Val) n.6440C>T | |
6 | g.51912534G>C | CA364439902 | PKHD1 | c.6164C>G (p.Ala2055Gly) c.5522C>G (p.Ala1841Gly) c.5453C>G (p.Ala1818Gly) c.239C>G (p.Ala80Gly) c.6089C>G (p.Ala2030Gly) c.5900C>G (p.Ala1967Gly) c.4304C>G (p.Ala1435Gly) n.6440C>G | |
6 | g.51912534G>T | CA364439903 | PKHD1 | c.6164C>A (p.Ala2055Asp) c.5522C>A (p.Ala1841Asp) c.5453C>A (p.Ala1818Asp) c.239C>A (p.Ala80Asp) c.6089C>A (p.Ala2030Asp) c.5900C>A (p.Ala1967Asp) c.4304C>A (p.Ala1435Asp) n.6440C>A | |
6 | g.51912535C>A | CA3852319 | PKHD1 | c.6163G>T (p.Ala2055Ser) c.5521G>T (p.Ala1841Ser) c.5452G>T (p.Ala1818Ser) c.238G>T (p.Ala80Ser) c.6088G>T (p.Ala2030Ser) c.5899G>T (p.Ala1967Ser) c.4303G>T (p.Ala1435Ser) n.6439G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51912535C= | CA1628583490 | PKHD1 | c.6163G= (p.Ala2055=) c.5521G= (p.Ala1841=) c.5452G= (p.Ala1818=) c.238G= (p.Ala80=) c.6088G= (p.Ala2030=) c.5899G= (p.Ala1967=) c.4303G= (p.Ala1435=) n.6439G= | |
6 | g.51912535C>G | CA364439904 | PKHD1 | c.6163G>C (p.Ala2055Pro) c.5521G>C (p.Ala1841Pro) c.5452G>C (p.Ala1818Pro) c.238G>C (p.Ala80Pro) c.6088G>C (p.Ala2030Pro) c.5899G>C (p.Ala1967Pro) c.4303G>C (p.Ala1435Pro) n.6439G>C | |
6 | g.51912535C>T | CA364439905 | PKHD1 | c.6163G>A (p.Ala2055Thr) c.5521G>A (p.Ala1841Thr) c.5452G>A (p.Ala1818Thr) c.238G>A (p.Ala80Thr) c.6088G>A (p.Ala2030Thr) c.5899G>A (p.Ala1967Thr) c.4303G>A (p.Ala1435Thr) n.6439G>A | COSMIC COSMIC |
6 | g.51912536A= | CA1628583494 | PKHD1 | c.6162T= (p.Thr2054=) c.5520T= (p.Thr1840=) c.5451T= (p.Thr1817=) c.237T= (p.Thr79=) c.6087T= (p.Thr2029=) c.5898T= (p.Thr1966=) c.4302T= (p.Thr1434=) n.6438T= | |
6 | g.51912536A>C | CA450416027 | PKHD1 | c.6162T>G (p.Thr2054=) c.5520T>G (p.Thr1840=) c.5451T>G (p.Thr1817=) c.237T>G (p.Thr79=) c.6087T>G (p.Thr2029=) c.5898T>G (p.Thr1966=) c.4302T>G (p.Thr1434=) n.6438T>G | |
6 | g.51912536A>G | CA450416025 | PKHD1 | c.6162T>C (p.Thr2054=) c.5520T>C (p.Thr1840=) c.5451T>C (p.Thr1817=) c.237T>C (p.Thr79=) c.6087T>C (p.Thr2029=) c.5898T>C (p.Thr1966=) c.4302T>C (p.Thr1434=) n.6438T>C | dbSNP |
6 | g.51912536A>T | CA450416026 | PKHD1 | c.6162T>A (p.Thr2054=) c.5520T>A (p.Thr1840=) c.5451T>A (p.Thr1817=) c.237T>A (p.Thr79=) c.6087T>A (p.Thr2029=) c.5898T>A (p.Thr1966=) c.4302T>A (p.Thr1434=) n.6438T>A | |
6 | g.51912537G>A | CA364439906 | PKHD1 | c.6161C>T (p.Thr2054Ile) c.5519C>T (p.Thr1840Ile) c.5450C>T (p.Thr1817Ile) c.236C>T (p.Thr79Ile) c.6086C>T (p.Thr2029Ile) c.5897C>T (p.Thr1966Ile) c.4301C>T (p.Thr1434Ile) n.6437C>T | gnomAD v4 |
6 | g.51912537G>C | CA364439907 | PKHD1 | c.6161C>G (p.Thr2054Ser) c.5519C>G (p.Thr1840Ser) c.5450C>G (p.Thr1817Ser) c.236C>G (p.Thr79Ser) c.6086C>G (p.Thr2029Ser) c.5897C>G (p.Thr1966Ser) c.4301C>G (p.Thr1434Ser) n.6437C>G | |
6 | g.51912537G= | CA1628583497 | PKHD1 | c.6161C= (p.Thr2054=) c.5519C= (p.Thr1840=) c.5450C= (p.Thr1817=) c.236C= (p.Thr79=) c.6086C= (p.Thr2029=) c.5897C= (p.Thr1966=) c.4301C= (p.Thr1434=) n.6437C= | |
6 | g.51912537G>T | CA364439908 | PKHD1 | c.6161C>A (p.Thr2054Asn) c.5519C>A (p.Thr1840Asn) c.5450C>A (p.Thr1817Asn) c.236C>A (p.Thr79Asn) c.6086C>A (p.Thr2029Asn) c.5897C>A (p.Thr1966Asn) c.4301C>A (p.Thr1434Asn) n.6437C>A | dbSNP |
6 | g.51912538T>A | CA364439911 | PKHD1 | c.6160A>T (p.Thr2054Ser) c.5518A>T (p.Thr1840Ser) c.5449A>T (p.Thr1817Ser) c.235A>T (p.Thr79Ser) c.6085A>T (p.Thr2029Ser) c.5896A>T (p.Thr1966Ser) c.4300A>T (p.Thr1434Ser) n.6436A>T | |
6 | g.51912538T>C | CA364439910 | PKHD1 | c.6160A>G (p.Thr2054Ala) c.5518A>G (p.Thr1840Ala) c.5449A>G (p.Thr1817Ala) c.235A>G (p.Thr79Ala) c.6085A>G (p.Thr2029Ala) c.5896A>G (p.Thr1966Ala) c.4300A>G (p.Thr1434Ala) n.6436A>G | |
6 | g.51912538T>G | CA364439909 | PKHD1 | c.6160A>C (p.Thr2054Pro) c.5518A>C (p.Thr1840Pro) c.5449A>C (p.Thr1817Pro) c.235A>C (p.Thr79Pro) c.6085A>C (p.Thr2029Pro) c.5896A>C (p.Thr1966Pro) c.4300A>C (p.Thr1434Pro) n.6436A>C | |
6 | g.51912539T>A | CA450416028 | PKHD1 | c.6159A>T (p.Ala2053=) c.5517A>T (p.Ala1839=) c.5448A>T (p.Ala1816=) c.234A>T (p.Ala78=) c.6084A>T (p.Ala2028=) c.5895A>T (p.Ala1965=) c.4299A>T (p.Ala1433=) n.6435A>T | |
6 | g.51912539T>C | CA450416029 | PKHD1 | c.6159A>G (p.Ala2053=) c.5517A>G (p.Ala1839=) c.5448A>G (p.Ala1816=) c.234A>G (p.Ala78=) c.6084A>G (p.Ala2028=) c.5895A>G (p.Ala1965=) c.4299A>G (p.Ala1433=) n.6435A>G | dbSNP |
6 | g.51912539T>G | CA450416030 | PKHD1 | c.6159A>C (p.Ala2053=) c.5517A>C (p.Ala1839=) c.5448A>C (p.Ala1816=) c.234A>C (p.Ala78=) c.6084A>C (p.Ala2028=) c.5895A>C (p.Ala1965=) c.4299A>C (p.Ala1433=) n.6435A>C | |
6 | g.51912539T= | CA1628583499 | PKHD1 | c.6159A= (p.Ala2053=) c.5517A= (p.Ala1839=) c.5448A= (p.Ala1816=) c.234A= (p.Ala78=) c.6084A= (p.Ala2028=) c.5895A= (p.Ala1965=) c.4299A= (p.Ala1433=) n.6435A= | |
6 | g.51912540G>A | CA364439913 | PKHD1 | c.6158C>T (p.Ala2053Val) c.5516C>T (p.Ala1839Val) c.5447C>T (p.Ala1816Val) c.233C>T (p.Ala78Val) c.6083C>T (p.Ala2028Val) c.5894C>T (p.Ala1965Val) c.4298C>T (p.Ala1433Val) n.6434C>T | |
6 | g.51912540G>C | CA364439912 | PKHD1 | c.6158C>G (p.Ala2053Gly) c.5516C>G (p.Ala1839Gly) c.5447C>G (p.Ala1816Gly) c.233C>G (p.Ala78Gly) c.6083C>G (p.Ala2028Gly) c.5894C>G (p.Ala1965Gly) c.4298C>G (p.Ala1433Gly) n.6434C>G | |
6 | g.51912540G= | CA1628583502 | PKHD1 | c.6158C= (p.Ala2053=) c.5516C= (p.Ala1839=) c.5447C= (p.Ala1816=) c.233C= (p.Ala78=) c.6083C= (p.Ala2028=) c.5894C= (p.Ala1965=) c.4298C= (p.Ala1433=) n.6434C= | |
6 | g.51912540G>T | CA364439914 | PKHD1 | c.6158C>A (p.Ala2053Glu) c.5516C>A (p.Ala1839Glu) c.5447C>A (p.Ala1816Glu) c.233C>A (p.Ala78Glu) c.6083C>A (p.Ala2028Glu) c.5894C>A (p.Ala1965Glu) c.4298C>A (p.Ala1433Glu) n.6434C>A | dbSNP |
6 | g.51912541C>A | CA364439915 | PKHD1 | c.6157G>T (p.Ala2053Ser) c.5515G>T (p.Ala1839Ser) c.5446G>T (p.Ala1816Ser) c.232G>T (p.Ala78Ser) c.6082G>T (p.Ala2028Ser) c.5893G>T (p.Ala1965Ser) c.4297G>T (p.Ala1433Ser) n.6433G>T | |
6 | g.51912541C>G | CA364439916 | PKHD1 | c.6157G>C (p.Ala2053Pro) c.5515G>C (p.Ala1839Pro) c.5446G>C (p.Ala1816Pro) c.232G>C (p.Ala78Pro) c.6082G>C (p.Ala2028Pro) c.5893G>C (p.Ala1965Pro) c.4297G>C (p.Ala1433Pro) n.6433G>C | |
6 | g.51912541C>T | CA364439917 | PKHD1 | c.6157G>A (p.Ala2053Thr) c.5515G>A (p.Ala1839Thr) c.5446G>A (p.Ala1816Thr) c.232G>A (p.Ala78Thr) c.6082G>A (p.Ala2028Thr) c.5893G>A (p.Ala1965Thr) c.4297G>A (p.Ala1433Thr) n.6433G>A | |
6 | g.51912542T>A | CA364439918 | PKHD1 | c.6156A>T (p.Arg2052Ser) c.5514A>T (p.Arg1838Ser) c.5445A>T (p.Arg1815Ser) c.231A>T (p.Arg77Ser) c.6081A>T (p.Arg2027Ser) c.5892A>T (p.Arg1964Ser) c.4296A>T (p.Arg1432Ser) n.6432A>T | |
6 | g.51912542T>C | CA450416031 | PKHD1 | c.6156A>G (p.Arg2052=) c.5514A>G (p.Arg1838=) c.5445A>G (p.Arg1815=) c.231A>G (p.Arg77=) c.6081A>G (p.Arg2027=) c.5892A>G (p.Arg1964=) c.4296A>G (p.Arg1432=) n.6432A>G | |
6 | g.51912542T>G | CA364439919 | PKHD1 | c.6156A>C (p.Arg2052Ser) c.5514A>C (p.Arg1838Ser) c.5445A>C (p.Arg1815Ser) c.231A>C (p.Arg77Ser) c.6081A>C (p.Arg2027Ser) c.5892A>C (p.Arg1964Ser) c.4296A>C (p.Arg1432Ser) n.6432A>C | |
6 | g.51912543C>A | CA364439920 | PKHD1 | c.6155G>T (p.Arg2052Ile) c.5513G>T (p.Arg1838Ile) c.5444G>T (p.Arg1815Ile) c.230G>T (p.Arg77Ile) c.6080G>T (p.Arg2027Ile) c.5891G>T (p.Arg1964Ile) c.4295G>T (p.Arg1432Ile) n.6431G>T | |
6 | g.51912543C>G | CA364439921 | PKHD1 | c.6155G>C (p.Arg2052Thr) c.5513G>C (p.Arg1838Thr) c.5444G>C (p.Arg1815Thr) c.230G>C (p.Arg77Thr) c.6080G>C (p.Arg2027Thr) c.5891G>C (p.Arg1964Thr) c.4295G>C (p.Arg1432Thr) n.6431G>C | |
6 | g.51912543C>T | CA364439922 | PKHD1 | c.6155G>A (p.Arg2052Lys) c.5513G>A (p.Arg1838Lys) c.5444G>A (p.Arg1815Lys) c.230G>A (p.Arg77Lys) c.6080G>A (p.Arg2027Lys) c.5891G>A (p.Arg1964Lys) c.4295G>A (p.Arg1432Lys) n.6431G>A | |
6 | g.51912544T>A | CA364439923 | PKHD1 | c.6154A>T (p.Arg2052Ter) c.5512A>T (p.Arg1838Ter) c.5443A>T (p.Arg1815Ter) c.229A>T (p.Arg77Ter) c.6079A>T (p.Arg2027Ter) c.5890A>T (p.Arg1964Ter) c.4294A>T (p.Arg1432Ter) n.6430A>T | |
6 | g.51912544T>C | CA364439924 | PKHD1 | c.6154A>G (p.Arg2052Gly) c.5512A>G (p.Arg1838Gly) c.5443A>G (p.Arg1815Gly) c.229A>G (p.Arg77Gly) c.6079A>G (p.Arg2027Gly) c.5890A>G (p.Arg1964Gly) c.4294A>G (p.Arg1432Gly) n.6430A>G | |
6 | g.51912544T>G | CA450416032 | PKHD1 | c.6154A>C (p.Arg2052=) c.5512A>C (p.Arg1838=) c.5443A>C (p.Arg1815=) c.229A>C (p.Arg77=) c.6079A>C (p.Arg2027=) c.5890A>C (p.Arg1964=) c.4294A>C (p.Arg1432=) n.6430A>C | |
6 | g.51912545A>C | CA450416033 | PKHD1 | c.6153T>G (p.Leu2051=) c.5511T>G (p.Leu1837=) c.5442T>G (p.Leu1814=) c.228T>G (p.Leu76=) c.6078T>G (p.Leu2026=) c.5889T>G (p.Leu1963=) c.4293T>G (p.Leu1431=) n.6429T>G | |
6 | g.51912545A>G | CA450416034 | PKHD1 | c.6153T>C (p.Leu2051=) c.5511T>C (p.Leu1837=) c.5442T>C (p.Leu1814=) c.228T>C (p.Leu76=) c.6078T>C (p.Leu2026=) c.5889T>C (p.Leu1963=) c.4293T>C (p.Leu1431=) n.6429T>C | dbSNP |
6 | g.51912545A>T | CA450416035 | PKHD1 | c.6153T>A (p.Leu2051=) c.5511T>A (p.Leu1837=) c.5442T>A (p.Leu1814=) c.228T>A (p.Leu76=) c.6078T>A (p.Leu2026=) c.5889T>A (p.Leu1963=) c.4293T>A (p.Leu1431=) n.6429T>A | |
6 | g.51912546A>C | CA364439925 | PKHD1 | c.6152T>G (p.Leu2051Arg) c.5510T>G (p.Leu1837Arg) c.5441T>G (p.Leu1814Arg) c.227T>G (p.Leu76Arg) c.6077T>G (p.Leu2026Arg) c.5888T>G (p.Leu1963Arg) c.4292T>G (p.Leu1431Arg) n.6428T>G | |
6 | g.51912546A>G | CA364439926 | PKHD1 | c.6152T>C (p.Leu2051Pro) c.5510T>C (p.Leu1837Pro) c.5441T>C (p.Leu1814Pro) c.227T>C (p.Leu76Pro) c.6077T>C (p.Leu2026Pro) c.5888T>C (p.Leu1963Pro) c.4292T>C (p.Leu1431Pro) n.6428T>C | |
6 | g.51912546A>T | CA364439927 | PKHD1 | c.6152T>A (p.Leu2051His) c.5510T>A (p.Leu1837His) c.5441T>A (p.Leu1814His) c.227T>A (p.Leu76His) c.6077T>A (p.Leu2026His) c.5888T>A (p.Leu1963His) c.4292T>A (p.Leu1431His) n.6428T>A | |
6 | g.51912547G>A | CA364439930 | PKHD1 | c.6151C>T (p.Leu2051Phe) c.5509C>T (p.Leu1837Phe) c.5440C>T (p.Leu1814Phe) c.226C>T (p.Leu76Phe) c.6076C>T (p.Leu2026Phe) c.5887C>T (p.Leu1963Phe) c.4291C>T (p.Leu1431Phe) n.6427C>T | |
6 | g.51912547G>C | CA364439928 | PKHD1 | c.6151C>G (p.Leu2051Val) c.5509C>G (p.Leu1837Val) c.5440C>G (p.Leu1814Val) c.226C>G (p.Leu76Val) c.6076C>G (p.Leu2026Val) c.5887C>G (p.Leu1963Val) c.4291C>G (p.Leu1431Val) n.6427C>G | |
6 | g.51912547G>T | CA364439929 | PKHD1 | c.6151C>A (p.Leu2051Ile) c.5509C>A (p.Leu1837Ile) c.5440C>A (p.Leu1814Ile) c.226C>A (p.Leu76Ile) c.6076C>A (p.Leu2026Ile) c.5887C>A (p.Leu1963Ile) c.4291C>A (p.Leu1431Ile) n.6427C>A | dbSNP |
6 | g.51912548A>C | CA364439931 | PKHD1 | c.6150T>G (p.Cys2050Trp) c.5508T>G (p.Cys1836Trp) c.5439T>G (p.Cys1813Trp) c.225T>G (p.Cys75Trp) c.6075T>G (p.Cys2025Trp) c.5886T>G (p.Cys1962Trp) c.4290T>G (p.Cys1430Trp) n.6426T>G | |
6 | g.51912548A>G | CA450416036 | PKHD1 | c.6150T>C (p.Cys2050=) c.5508T>C (p.Cys1836=) c.5439T>C (p.Cys1813=) c.225T>C (p.Cys75=) c.6075T>C (p.Cys2025=) c.5886T>C (p.Cys1962=) c.4290T>C (p.Cys1430=) n.6426T>C | |
6 | g.51912548A>T | CA364439932 | PKHD1 | c.6150T>A (p.Cys2050Ter) c.5508T>A (p.Cys1836Ter) c.5439T>A (p.Cys1813Ter) c.225T>A (p.Cys75Ter) c.6075T>A (p.Cys2025Ter) c.5886T>A (p.Cys1962Ter) c.4290T>A (p.Cys1430Ter) n.6426T>A | |
6 | g.51912549C>A | CA364439933 | PKHD1 | c.6149G>T (p.Cys2050Phe) c.5507G>T (p.Cys1836Phe) c.5438G>T (p.Cys1813Phe) c.224G>T (p.Cys75Phe) c.6074G>T (p.Cys2025Phe) c.5885G>T (p.Cys1962Phe) c.4289G>T (p.Cys1430Phe) n.6425G>T | |
6 | g.51912549C= | CA1628583508 | PKHD1 | c.6149G= (p.Cys2050=) c.5507G= (p.Cys1836=) c.5438G= (p.Cys1813=) c.224G= (p.Cys75=) c.6074G= (p.Cys2025=) c.5885G= (p.Cys1962=) c.4289G= (p.Cys1430=) n.6425G= | |
6 | g.51912549C>G | CA3852320 | PKHD1 | c.6149G>C (p.Cys2050Ser) c.5507G>C (p.Cys1836Ser) c.5438G>C (p.Cys1813Ser) c.224G>C (p.Cys75Ser) c.6074G>C (p.Cys2025Ser) c.5885G>C (p.Cys1962Ser) c.4289G>C (p.Cys1430Ser) n.6425G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51912549C>T | CA364439934 | PKHD1 | c.6149G>A (p.Cys2050Tyr) c.5507G>A (p.Cys1836Tyr) c.5438G>A (p.Cys1813Tyr) c.224G>A (p.Cys75Tyr) c.6074G>A (p.Cys2025Tyr) c.5885G>A (p.Cys1962Tyr) c.4289G>A (p.Cys1430Tyr) n.6425G>A | gnomAD v4 |
6 | g.51912550A>C | CA364439935 | PKHD1 | c.6148T>G (p.Cys2050Gly) c.5506T>G (p.Cys1836Gly) c.5437T>G (p.Cys1813Gly) c.223T>G (p.Cys75Gly) c.6073T>G (p.Cys2025Gly) c.5884T>G (p.Cys1962Gly) c.4288T>G (p.Cys1430Gly) n.6424T>G | |
6 | g.51912550A>G | CA364439936 | PKHD1 | c.6148T>C (p.Cys2050Arg) c.5506T>C (p.Cys1836Arg) c.5437T>C (p.Cys1813Arg) c.223T>C (p.Cys75Arg) c.6073T>C (p.Cys2025Arg) c.5884T>C (p.Cys1962Arg) c.4288T>C (p.Cys1430Arg) n.6424T>C | dbSNP |
6 | g.51912550A>T | CA364439937 | PKHD1 | c.6148T>A (p.Cys2050Ser) c.5506T>A (p.Cys1836Ser) c.5437T>A (p.Cys1813Ser) c.223T>A (p.Cys75Ser) c.6073T>A (p.Cys2025Ser) c.5884T>A (p.Cys1962Ser) c.4288T>A (p.Cys1430Ser) n.6424T>A | |
6 | g.51912551G>A | CA450416037 | PKHD1 | c.6147C>T (p.Thr2049=) c.5505C>T (p.Thr1835=) c.5436C>T (p.Thr1812=) c.222C>T (p.Thr74=) c.6072C>T (p.Thr2024=) c.5883C>T (p.Thr1961=) c.4287C>T (p.Thr1429=) n.6423C>T | ClinVar dbSNP gnomAD v4 |
6 | g.51912551G>C | CA450416038 | PKHD1 | c.6147C>G (p.Thr2049=) c.5505C>G (p.Thr1835=) c.5436C>G (p.Thr1812=) c.222C>G (p.Thr74=) c.6072C>G (p.Thr2024=) c.5883C>G (p.Thr1961=) c.4287C>G (p.Thr1429=) n.6423C>G | gnomAD v4 |
6 | g.51912551G>T | CA450416039 | PKHD1 | c.6147C>A (p.Thr2049=) c.5505C>A (p.Thr1835=) c.5436C>A (p.Thr1812=) c.222C>A (p.Thr74=) c.6072C>A (p.Thr2024=) c.5883C>A (p.Thr1961=) c.4287C>A (p.Thr1429=) n.6423C>A | |
6 | g.51912551delinsCTGCTCTTATACACATCT | CA2580075504 | PKHD1 | c.6147delinsAGATGTGTATAAGAGCAG (p.Cys2050AspfsTer15) c.5505delinsAGATGTGTATAAGAGCAG (p.Cys1836AspfsTer15) c.5436delinsAGATGTGTATAAGAGCAG (p.Cys1813AspfsTer15) c.222delinsAGATGTGTATAAGAGCAG (p.Cys75AspfsTer15) c.6072delinsAGATGTGTATAAGAGCAG (p.Cys2025AspfsTer15) c.5883delinsAGATGTGTATAAGAGCAG (p.Cys1962AspfsTer15) c.4287delinsAGATGTGTATAAGAGCAG (p.Cys1430AspfsTer15) n.6423delinsAGATGTGTATAAGAGCAG | ClinVar |
6 | g.51912552G>A | CA364439938 | PKHD1 | c.6146C>T (p.Thr2049Ile) c.5504C>T (p.Thr1835Ile) c.5435C>T (p.Thr1812Ile) c.221C>T (p.Thr74Ile) c.6071C>T (p.Thr2024Ile) c.5882C>T (p.Thr1961Ile) c.4286C>T (p.Thr1429Ile) n.6422C>T | dbSNP |
6 | g.51912552G>C | CA364439939 | PKHD1 | c.6146C>G (p.Thr2049Ser) c.5504C>G (p.Thr1835Ser) c.5435C>G (p.Thr1812Ser) c.221C>G (p.Thr74Ser) c.6071C>G (p.Thr2024Ser) c.5882C>G (p.Thr1961Ser) c.4286C>G (p.Thr1429Ser) n.6422C>G | |
6 | g.51912552G>T | CA364439940 | PKHD1 | c.6146C>A (p.Thr2049Asn) c.5504C>A (p.Thr1835Asn) c.5435C>A (p.Thr1812Asn) c.221C>A (p.Thr74Asn) c.6071C>A (p.Thr2024Asn) c.5882C>A (p.Thr1961Asn) c.4286C>A (p.Thr1429Asn) n.6422C>A | |
6 | g.51912553T>A | CA364439943 | PKHD1 | c.6145A>T (p.Thr2049Ser) c.5503A>T (p.Thr1835Ser) c.5434A>T (p.Thr1812Ser) c.220A>T (p.Thr74Ser) c.6070A>T (p.Thr2024Ser) c.5881A>T (p.Thr1961Ser) c.4285A>T (p.Thr1429Ser) n.6421A>T | |
6 | g.51912553T>C | CA364439942 | PKHD1 | c.6145A>G (p.Thr2049Ala) c.5503A>G (p.Thr1835Ala) c.5434A>G (p.Thr1812Ala) c.220A>G (p.Thr74Ala) c.6070A>G (p.Thr2024Ala) c.5881A>G (p.Thr1961Ala) c.4285A>G (p.Thr1429Ala) n.6421A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51912553T>G | CA364439941 | PKHD1 | c.6145A>C (p.Thr2049Pro) c.5503A>C (p.Thr1835Pro) c.5434A>C (p.Thr1812Pro) c.220A>C (p.Thr74Pro) c.6070A>C (p.Thr2024Pro) c.5881A>C (p.Thr1961Pro) c.4285A>C (p.Thr1429Pro) n.6421A>C | |
6 | g.51912553T= | CA1628583512 | PKHD1 | c.6145A= (p.Thr2049=) c.5503A= (p.Thr1835=) c.5434A= (p.Thr1812=) c.220A= (p.Thr74=) c.6070A= (p.Thr2024=) c.5881A= (p.Thr1961=) c.4285A= (p.Thr1429=) n.6421A= | |
6 | g.51912554G>A | CA450416040 | PKHD1 | c.6144C>T (p.Val2048=) c.5502C>T (p.Val1834=) c.5433C>T (p.Val1811=) c.219C>T (p.Val73=) c.6069C>T (p.Val2023=) c.5880C>T (p.Val1960=) c.4284C>T (p.Val1428=) n.6420C>T | gnomAD v4 |
6 | g.51912554G>C | CA450416041 | PKHD1 | c.6144C>G (p.Val2048=) c.5502C>G (p.Val1834=) c.5433C>G (p.Val1811=) c.219C>G (p.Val73=) c.6069C>G (p.Val2023=) c.5880C>G (p.Val1960=) c.4284C>G (p.Val1428=) n.6420C>G | |
6 | g.51912554G>T | CA450416042 | PKHD1 | c.6144C>A (p.Val2048=) c.5502C>A (p.Val1834=) c.5433C>A (p.Val1811=) c.219C>A (p.Val73=) c.6069C>A (p.Val2023=) c.5880C>A (p.Val1960=) c.4284C>A (p.Val1428=) n.6420C>A | |
6 | g.51912555A= | CA1628583515 | PKHD1 | c.6143T= (p.Val2048=) c.5501T= (p.Val1834=) c.5432T= (p.Val1811=) c.218T= (p.Val73=) c.6068T= (p.Val2023=) c.5879T= (p.Val1960=) c.4283T= (p.Val1428=) n.6419T= | |
6 | g.51912555A>C | CA364439944 | PKHD1 | c.6143T>G (p.Val2048Gly) c.5501T>G (p.Val1834Gly) c.5432T>G (p.Val1811Gly) c.218T>G (p.Val73Gly) c.6068T>G (p.Val2023Gly) c.5879T>G (p.Val1960Gly) c.4283T>G (p.Val1428Gly) n.6419T>G | |
6 | g.51912555A>G | CA364439945 | PKHD1 | c.6143T>C (p.Val2048Ala) c.5501T>C (p.Val1834Ala) c.5432T>C (p.Val1811Ala) c.218T>C (p.Val73Ala) c.6068T>C (p.Val2023Ala) c.5879T>C (p.Val1960Ala) c.4283T>C (p.Val1428Ala) n.6419T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51912555A>T | CA364439946 | PKHD1 | c.6143T>A (p.Val2048Asp) c.5501T>A (p.Val1834Asp) c.5432T>A (p.Val1811Asp) c.218T>A (p.Val73Asp) c.6068T>A (p.Val2023Asp) c.5879T>A (p.Val1960Asp) c.4283T>A (p.Val1428Asp) n.6419T>A | |
6 | g.51912556C>A | CA3852321 | PKHD1 | c.6142G>T (p.Val2048Phe) c.5500G>T (p.Val1834Phe) c.5431G>T (p.Val1811Phe) c.217G>T (p.Val73Phe) c.6067G>T (p.Val2023Phe) c.5878G>T (p.Val1960Phe) c.4282G>T (p.Val1428Phe) n.6418G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51912556C= | CA1628583523 | PKHD1 | c.6142G= (p.Val2048=) c.5500G= (p.Val1834=) c.5431G= (p.Val1811=) c.217G= (p.Val73=) c.6067G= (p.Val2023=) c.5878G= (p.Val1960=) c.4282G= (p.Val1428=) n.6418G= | |
6 | g.51912556C>G | CA364439947 | PKHD1 | c.6142G>C (p.Val2048Leu) c.5500G>C (p.Val1834Leu) c.5431G>C (p.Val1811Leu) c.217G>C (p.Val73Leu) c.6067G>C (p.Val2023Leu) c.5878G>C (p.Val1960Leu) c.4282G>C (p.Val1428Leu) n.6418G>C | gnomAD v4 |
6 | g.51912556C>T | CA364439948 | PKHD1 | c.6142G>A (p.Val2048Ile) c.5500G>A (p.Val1834Ile) c.5431G>A (p.Val1811Ile) c.217G>A (p.Val73Ile) c.6067G>A (p.Val2023Ile) c.5878G>A (p.Val1960Ile) c.4282G>A (p.Val1428Ile) n.6418G>A | gnomAD v4 |
6 | g.51912557A>C | CA364439949 | PKHD1 | c.6141T>G (p.Ile2047Met) c.5499T>G (p.Ile1833Met) c.5430T>G (p.Ile1810Met) c.216T>G (p.Ile72Met) c.6066T>G (p.Ile2022Met) c.5877T>G (p.Ile1959Met) c.4281T>G (p.Ile1427Met) n.6417T>G | |
6 | g.51912557A>G | CA450416043 | PKHD1 | c.6141T>C (p.Ile2047=) c.5499T>C (p.Ile1833=) c.5430T>C (p.Ile1810=) c.216T>C (p.Ile72=) c.6066T>C (p.Ile2022=) c.5877T>C (p.Ile1959=) c.4281T>C (p.Ile1427=) n.6417T>C | |
6 | g.51912557A>T | CA450416044 | PKHD1 | c.6141T>A (p.Ile2047=) c.5499T>A (p.Ile1833=) c.5430T>A (p.Ile1810=) c.216T>A (p.Ile72=) c.6066T>A (p.Ile2022=) c.5877T>A (p.Ile1959=) c.4281T>A (p.Ile1427=) n.6417T>A | |
6 | g.51912558A= | CA1628583530 | PKHD1 | c.6140T= (p.Ile2047=) c.5498T= (p.Ile1833=) c.5429T= (p.Ile1810=) c.215T= (p.Ile72=) c.6065T= (p.Ile2022=) c.5876T= (p.Ile1959=) c.4280T= (p.Ile1427=) n.6416T= | |
6 | g.51912558A>C | CA364439950 | PKHD1 | c.6140T>G (p.Ile2047Ser) c.5498T>G (p.Ile1833Ser) c.5429T>G (p.Ile1810Ser) c.215T>G (p.Ile72Ser) c.6065T>G (p.Ile2022Ser) c.5876T>G (p.Ile1959Ser) c.4280T>G (p.Ile1427Ser) n.6416T>G | |
6 | g.51912558A>G | CA364439952 | PKHD1 | c.6140T>C (p.Ile2047Thr) c.5498T>C (p.Ile1833Thr) c.5429T>C (p.Ile1810Thr) c.215T>C (p.Ile72Thr) c.6065T>C (p.Ile2022Thr) c.5876T>C (p.Ile1959Thr) c.4280T>C (p.Ile1427Thr) n.6416T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51912558A>T | CA364439951 | PKHD1 | c.6140T>A (p.Ile2047Asn) c.5498T>A (p.Ile1833Asn) c.5429T>A (p.Ile1810Asn) c.215T>A (p.Ile72Asn) c.6065T>A (p.Ile2022Asn) c.5876T>A (p.Ile1959Asn) c.4280T>A (p.Ile1427Asn) n.6416T>A | |
6 | g.51912559T>A | CA364439953 | PKHD1 | c.6139A>T (p.Ile2047Phe) c.5497A>T (p.Ile1833Phe) c.5428A>T (p.Ile1810Phe) c.214A>T (p.Ile72Phe) c.6064A>T (p.Ile2022Phe) c.5875A>T (p.Ile1959Phe) c.4279A>T (p.Ile1427Phe) n.6415A>T | |
6 | g.51912559T>C | CA364439954 | PKHD1 | c.6139A>G (p.Ile2047Val) c.5497A>G (p.Ile1833Val) c.5428A>G (p.Ile1810Val) c.214A>G (p.Ile72Val) c.6064A>G (p.Ile2022Val) c.5875A>G (p.Ile1959Val) c.4279A>G (p.Ile1427Val) n.6415A>G | gnomAD v4 |
6 | g.51912559T>G | CA364439955 | PKHD1 | c.6139A>C (p.Ile2047Leu) c.5497A>C (p.Ile1833Leu) c.5428A>C (p.Ile1810Leu) c.214A>C (p.Ile72Leu) c.6064A>C (p.Ile2022Leu) c.5875A>C (p.Ile1959Leu) c.4279A>C (p.Ile1427Leu) n.6415A>C | |
6 | g.51912560T>A | CA450416045 | PKHD1 | c.6138A>T (p.Val2046=) c.5496A>T (p.Val1832=) c.5427A>T (p.Val1809=) c.213A>T (p.Val71=) c.6063A>T (p.Val2021=) c.5874A>T (p.Val1958=) c.4278A>T (p.Val1426=) n.6414A>T | |
6 | g.51912560T>C | CA3852322 | PKHD1 | c.6138A>G (p.Val2046=) c.5496A>G (p.Val1832=) c.5427A>G (p.Val1809=) c.213A>G (p.Val71=) c.6063A>G (p.Val2021=) c.5874A>G (p.Val1958=) c.4278A>G (p.Val1426=) n.6414A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51912560T>G | CA450416046 | PKHD1 | c.6138A>C (p.Val2046=) c.5496A>C (p.Val1832=) c.5427A>C (p.Val1809=) c.213A>C (p.Val71=) c.6063A>C (p.Val2021=) c.5874A>C (p.Val1958=) c.4278A>C (p.Val1426=) n.6414A>C | |
6 | g.51912560T= | CA1628583533 | PKHD1 | c.6138A= (p.Val2046=) c.5496A= (p.Val1832=) c.5427A= (p.Val1809=) c.213A= (p.Val71=) c.6063A= (p.Val2021=) c.5874A= (p.Val1958=) c.4278A= (p.Val1426=) n.6414A= | |
6 | g.51912561A>C | CA364439956 | PKHD1 | c.6137T>G (p.Val2046Gly) c.5495T>G (p.Val1832Gly) c.5426T>G (p.Val1809Gly) c.212T>G (p.Val71Gly) c.6062T>G (p.Val2021Gly) c.5873T>G (p.Val1958Gly) c.4277T>G (p.Val1426Gly) n.6413T>G | |
6 | g.51912561A>G | CA364439958 | PKHD1 | c.6137T>C (p.Val2046Ala) c.5495T>C (p.Val1832Ala) c.5426T>C (p.Val1809Ala) c.212T>C (p.Val71Ala) c.6062T>C (p.Val2021Ala) c.5873T>C (p.Val1958Ala) c.4277T>C (p.Val1426Ala) n.6413T>C | |
6 | g.51912561A>T | CA364439957 | PKHD1 | c.6137T>A (p.Val2046Glu) c.5495T>A (p.Val1832Glu) c.5426T>A (p.Val1809Glu) c.212T>A (p.Val71Glu) c.6062T>A (p.Val2021Glu) c.5873T>A (p.Val1958Glu) c.4277T>A (p.Val1426Glu) n.6413T>A | |
6 | g.51912562C>A | CA364439959 | PKHD1 | c.6136G>T (p.Val2046Leu) c.5494G>T (p.Val1832Leu) c.5425G>T (p.Val1809Leu) c.211G>T (p.Val71Leu) c.6061G>T (p.Val2021Leu) c.5872G>T (p.Val1958Leu) c.4276G>T (p.Val1426Leu) n.6412G>T | |
6 | g.51912562C>G | CA364439960 | PKHD1 | c.6136G>C (p.Val2046Leu) c.5494G>C (p.Val1832Leu) c.5425G>C (p.Val1809Leu) c.211G>C (p.Val71Leu) c.6061G>C (p.Val2021Leu) c.5872G>C (p.Val1958Leu) c.4276G>C (p.Val1426Leu) n.6412G>C | |
6 | g.51912562C>T | CA364439961 | PKHD1 | c.6136G>A (p.Val2046Ile) c.5494G>A (p.Val1832Ile) c.5425G>A (p.Val1809Ile) c.211G>A (p.Val71Ile) c.6061G>A (p.Val2021Ile) c.5872G>A (p.Val1958Ile) c.4276G>A (p.Val1426Ile) n.6412G>A | gnomAD v4 |
6 | g.51912563T>A | CA364439962 | PKHD1 | c.6135A>T (p.Glu2045Asp) c.5493A>T (p.Glu1831Asp) c.5424A>T (p.Glu1808Asp) c.210A>T (p.Glu70Asp) c.6060A>T (p.Glu2020Asp) c.5871A>T (p.Glu1957Asp) c.4275A>T (p.Glu1425Asp) n.6411A>T | |
6 | g.51912563T>C | CA3852323 | PKHD1 | c.6135A>G (p.Glu2045=) c.5493A>G (p.Glu1831=) c.5424A>G (p.Glu1808=) c.210A>G (p.Glu70=) c.6060A>G (p.Glu2020=) c.5871A>G (p.Glu1957=) c.4275A>G (p.Glu1425=) n.6411A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51912563T>G | CA364439963 | PKHD1 | c.6135A>C (p.Glu2045Asp) c.5493A>C (p.Glu1831Asp) c.5424A>C (p.Glu1808Asp) c.210A>C (p.Glu70Asp) c.6060A>C (p.Glu2020Asp) c.5871A>C (p.Glu1957Asp) c.4275A>C (p.Glu1425Asp) n.6411A>C | |
6 | g.51912563T= | CA1628583537 | PKHD1 | c.6135A= (p.Glu2045=) c.5493A= (p.Glu1831=) c.5424A= (p.Glu1808=) c.210A= (p.Glu70=) c.6060A= (p.Glu2020=) c.5871A= (p.Glu1957=) c.4275A= (p.Glu1425=) n.6411A= | |
6 | g.51912564T>A | CA364439964 | PKHD1 | c.6134A>T (p.Glu2045Val) c.5492A>T (p.Glu1831Val) c.5423A>T (p.Glu1808Val) c.209A>T (p.Glu70Val) c.6059A>T (p.Glu2020Val) c.5870A>T (p.Glu1957Val) c.4274A>T (p.Glu1425Val) n.6410A>T | |
6 | g.51912564T>C | CA364439965 | PKHD1 | c.6134A>G (p.Glu2045Gly) c.5492A>G (p.Glu1831Gly) c.5423A>G (p.Glu1808Gly) c.209A>G (p.Glu70Gly) c.6059A>G (p.Glu2020Gly) c.5870A>G (p.Glu1957Gly) c.4274A>G (p.Glu1425Gly) n.6410A>G | |
6 | g.51912564T>G | CA364439966 | PKHD1 | c.6134A>C (p.Glu2045Ala) c.5492A>C (p.Glu1831Ala) c.5423A>C (p.Glu1808Ala) c.209A>C (p.Glu70Ala) c.6059A>C (p.Glu2020Ala) c.5870A>C (p.Glu1957Ala) c.4274A>C (p.Glu1425Ala) n.6410A>C | |
6 | g.51912565C>A | CA364439967 | PKHD1 | c.6133G>T (p.Glu2045Ter) c.5491G>T (p.Glu1831Ter) c.5422G>T (p.Glu1808Ter) c.208G>T (p.Glu70Ter) c.6058G>T (p.Glu2020Ter) c.5869G>T (p.Glu1957Ter) c.4273G>T (p.Glu1425Ter) n.6409G>T | |
6 | g.51912565C>G | CA364439968 | PKHD1 | c.6133G>C (p.Glu2045Gln) c.5491G>C (p.Glu1831Gln) c.5422G>C (p.Glu1808Gln) c.208G>C (p.Glu70Gln) c.6058G>C (p.Glu2020Gln) c.5869G>C (p.Glu1957Gln) c.4273G>C (p.Glu1425Gln) n.6409G>C | |
6 | g.51912565C>T | CA364439969 | PKHD1 | c.6133G>A (p.Glu2045Lys) c.5491G>A (p.Glu1831Lys) c.5422G>A (p.Glu1808Lys) c.208G>A (p.Glu70Lys) c.6058G>A (p.Glu2020Lys) c.5869G>A (p.Glu1957Lys) c.4273G>A (p.Glu1425Lys) n.6409G>A | |
6 | g.51912566T>A | CA450416047 | PKHD1 | c.6132A>T (p.Pro2044=) c.5490A>T (p.Pro1830=) c.5421A>T (p.Pro1807=) c.207A>T (p.Pro69=) c.6057A>T (p.Pro2019=) c.5868A>T (p.Pro1956=) c.4272A>T (p.Pro1424=) n.6408A>T | |
6 | g.51912566T>C | CA450416049 | PKHD1 | c.6132A>G (p.Pro2044=) c.5490A>G (p.Pro1830=) c.5421A>G (p.Pro1807=) c.207A>G (p.Pro69=) c.6057A>G (p.Pro2019=) c.5868A>G (p.Pro1956=) c.4272A>G (p.Pro1424=) n.6408A>G | |
6 | g.51912566T>G | CA450416048 | PKHD1 | c.6132A>C (p.Pro2044=) c.5490A>C (p.Pro1830=) c.5421A>C (p.Pro1807=) c.207A>C (p.Pro69=) c.6057A>C (p.Pro2019=) c.5868A>C (p.Pro1956=) c.4272A>C (p.Pro1424=) n.6408A>C | |
6 | g.51912567G>A | CA364439971 | PKHD1 | c.6131C>T (p.Pro2044Leu) c.5489C>T (p.Pro1830Leu) c.5420C>T (p.Pro1807Leu) c.206C>T (p.Pro69Leu) c.6056C>T (p.Pro2019Leu) c.5867C>T (p.Pro1956Leu) c.4271C>T (p.Pro1424Leu) n.6407C>T | |
6 | g.51912567G>C | CA364439972 | PKHD1 | c.6131C>G (p.Pro2044Arg) c.5489C>G (p.Pro1830Arg) c.5420C>G (p.Pro1807Arg) c.206C>G (p.Pro69Arg) c.6056C>G (p.Pro2019Arg) c.5867C>G (p.Pro1956Arg) c.4271C>G (p.Pro1424Arg) n.6407C>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51912567G= | CA1628583541 | PKHD1 | c.6131C= (p.Pro2044=) c.5489C= (p.Pro1830=) c.5420C= (p.Pro1807=) c.206C= (p.Pro69=) c.6056C= (p.Pro2019=) c.5867C= (p.Pro1956=) c.4271C= (p.Pro1424=) n.6407C= | |
6 | g.51912567G>T | CA364439970 | PKHD1 | c.6131C>A (p.Pro2044Gln) c.5489C>A (p.Pro1830Gln) c.5420C>A (p.Pro1807Gln) c.206C>A (p.Pro69Gln) c.6056C>A (p.Pro2019Gln) c.5867C>A (p.Pro1956Gln) c.4271C>A (p.Pro1424Gln) n.6407C>A | |
6 | g.51912568G>A | CA3852324 | PKHD1 | c.6130C>T (p.Pro2044Ser) c.5488C>T (p.Pro1830Ser) c.5419C>T (p.Pro1807Ser) c.205C>T (p.Pro69Ser) c.6055C>T (p.Pro2019Ser) c.5866C>T (p.Pro1956Ser) c.4270C>T (p.Pro1424Ser) n.6406C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51912568G>C | CA364439974 | PKHD1 | c.6130C>G (p.Pro2044Ala) c.5488C>G (p.Pro1830Ala) c.5419C>G (p.Pro1807Ala) c.205C>G (p.Pro69Ala) c.6055C>G (p.Pro2019Ala) c.5866C>G (p.Pro1956Ala) c.4270C>G (p.Pro1424Ala) n.6406C>G | |
6 | g.51912568G= | CA1628583549 | PKHD1 | c.6130C= (p.Pro2044=) c.5488C= (p.Pro1830=) c.5419C= (p.Pro1807=) c.205C= (p.Pro69=) c.6055C= (p.Pro2019=) c.5866C= (p.Pro1956=) c.4270C= (p.Pro1424=) n.6406C= | |
6 | g.51912568G>T | CA364439973 | PKHD1 | c.6130C>A (p.Pro2044Thr) c.5488C>A (p.Pro1830Thr) c.5419C>A (p.Pro1807Thr) c.205C>A (p.Pro69Thr) c.6055C>A (p.Pro2019Thr) c.5866C>A (p.Pro1956Thr) c.4270C>A (p.Pro1424Thr) n.6406C>A | |
6 | g.51912569T>A | CA450416050 | PKHD1 | c.6129A>T (p.Leu2043=) c.5487A>T (p.Leu1829=) c.5418A>T (p.Leu1806=) c.204A>T (p.Leu68=) c.6054A>T (p.Leu2018=) c.5865A>T (p.Leu1955=) c.4269A>T (p.Leu1423=) n.6405A>T | |
6 | g.51912569T>C | CA450416051 | PKHD1 | c.6129A>G (p.Leu2043=) c.5487A>G (p.Leu1829=) c.5418A>G (p.Leu1806=) c.204A>G (p.Leu68=) c.6054A>G (p.Leu2018=) c.5865A>G (p.Leu1955=) c.4269A>G (p.Leu1423=) n.6405A>G | |
6 | g.51912569T>G | CA450416052 | PKHD1 | c.6129A>C (p.Leu2043=) c.5487A>C (p.Leu1829=) c.5418A>C (p.Leu1806=) c.204A>C (p.Leu68=) c.6054A>C (p.Leu2018=) c.5865A>C (p.Leu1955=) c.4269A>C (p.Leu1423=) n.6405A>C | |
6 | g.51912570A>C | CA364439975 | PKHD1 | c.6128T>G (p.Leu2043Arg) c.5486T>G (p.Leu1829Arg) c.5417T>G (p.Leu1806Arg) c.203T>G (p.Leu68Arg) c.6053T>G (p.Leu2018Arg) c.5864T>G (p.Leu1955Arg) c.4268T>G (p.Leu1423Arg) n.6404T>G | |
6 | g.51912570A>G | CA364439977 | PKHD1 | c.6128T>C (p.Leu2043Pro) c.5486T>C (p.Leu1829Pro) c.5417T>C (p.Leu1806Pro) c.203T>C (p.Leu68Pro) c.6053T>C (p.Leu2018Pro) c.5864T>C (p.Leu1955Pro) c.4268T>C (p.Leu1423Pro) n.6404T>C | gnomAD v4 |
6 | g.51912570A>T | CA364439976 | PKHD1 | c.6128T>A (p.Leu2043Gln) c.5486T>A (p.Leu1829Gln) c.5417T>A (p.Leu1806Gln) c.203T>A (p.Leu68Gln) c.6053T>A (p.Leu2018Gln) c.5864T>A (p.Leu1955Gln) c.4268T>A (p.Leu1423Gln) n.6404T>A | |
6 | g.51912571G>A | CA450416053 | PKHD1 | c.6127C>T (p.Leu2043=) c.5485C>T (p.Leu1829=) c.5416C>T (p.Leu1806=) c.202C>T (p.Leu68=) c.6052C>T (p.Leu2018=) c.5863C>T (p.Leu1955=) c.4267C>T (p.Leu1423=) n.6403C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51912571G>C | CA364439978 | PKHD1 | c.6127C>G (p.Leu2043Val) c.5485C>G (p.Leu1829Val) c.5416C>G (p.Leu1806Val) c.202C>G (p.Leu68Val) c.6052C>G (p.Leu2018Val) c.5863C>G (p.Leu1955Val) c.4267C>G (p.Leu1423Val) n.6403C>G | |
6 | g.51912571G= | CA1628583552 | PKHD1 | c.6127C= (p.Leu2043=) c.5485C= (p.Leu1829=) c.5416C= (p.Leu1806=) c.202C= (p.Leu68=) c.6052C= (p.Leu2018=) c.5863C= (p.Leu1955=) c.4267C= (p.Leu1423=) n.6403C= | |
6 | g.51912571G>T | CA364439979 | PKHD1 | c.6127C>A (p.Leu2043Ile) c.5485C>A (p.Leu1829Ile) c.5416C>A (p.Leu1806Ile) c.202C>A (p.Leu68Ile) c.6052C>A (p.Leu2018Ile) c.5863C>A (p.Leu1955Ile) c.4267C>A (p.Leu1423Ile) n.6403C>A | |
6 | g.51912572T>A | CA450416054 | PKHD1 | c.6126A>T (p.Ser2042=) c.5484A>T (p.Ser1828=) c.5415A>T (p.Ser1805=) c.201A>T (p.Ser67=) c.6051A>T (p.Ser2017=) c.5862A>T (p.Ser1954=) c.4266A>T (p.Ser1422=) n.6402A>T | |
6 | g.51912572T>C | CA450416055 | PKHD1 | c.6126A>G (p.Ser2042=) c.5484A>G (p.Ser1828=) c.5415A>G (p.Ser1805=) c.201A>G (p.Ser67=) c.6051A>G (p.Ser2017=) c.5862A>G (p.Ser1954=) c.4266A>G (p.Ser1422=) n.6402A>G | ClinVar |
6 | g.51912572T>G | CA450416056 | PKHD1 | c.6126A>C (p.Ser2042=) c.5484A>C (p.Ser1828=) c.5415A>C (p.Ser1805=) c.201A>C (p.Ser67=) c.6051A>C (p.Ser2017=) c.5862A>C (p.Ser1954=) c.4266A>C (p.Ser1422=) n.6402A>C | |
6 | g.51912573del | CA2580075506 | PKHD1 | c.6125del (p.Ser2042TyrfsTer5) c.5483del (p.Ser1828TyrfsTer5) c.5414del (p.Ser1805TyrfsTer5) c.200del (p.Ser67TyrfsTer5) c.6050del (p.Ser2017TyrfsTer5) c.5861del (p.Ser1954TyrfsTer5) c.4265del (p.Ser1422TyrfsTer5) n.6401del | ClinVar |
6 | g.51912573G>A | CA364439980 | PKHD1 | c.6125C>T (p.Ser2042Leu) c.5483C>T (p.Ser1828Leu) c.5414C>T (p.Ser1805Leu) c.200C>T (p.Ser67Leu) c.6050C>T (p.Ser2017Leu) c.5861C>T (p.Ser1954Leu) c.4265C>T (p.Ser1422Leu) n.6401C>T | dbSNP |
6 | g.51912573G>C | CA364439981 | PKHD1 | c.6125C>G (p.Ser2042Ter) c.5483C>G (p.Ser1828Ter) c.5414C>G (p.Ser1805Ter) c.200C>G (p.Ser67Ter) c.6050C>G (p.Ser2017Ter) c.5861C>G (p.Ser1954Ter) c.4265C>G (p.Ser1422Ter) n.6401C>G | |
6 | g.51912573G= | CA1628583556 | PKHD1 | c.6125C= (p.Ser2042=) c.5483C= (p.Ser1828=) c.5414C= (p.Ser1805=) c.200C= (p.Ser67=) c.6050C= (p.Ser2017=) c.5861C= (p.Ser1954=) c.4265C= (p.Ser1422=) n.6401C= | |
6 | g.51912573G>T | CA364439982 | PKHD1 | c.6125C>A (p.Ser2042Ter) c.5483C>A (p.Ser1828Ter) c.5414C>A (p.Ser1805Ter) c.200C>A (p.Ser67Ter) c.6050C>A (p.Ser2017Ter) c.5861C>A (p.Ser1954Ter) c.4265C>A (p.Ser1422Ter) n.6401C>A | ClinVar |
6 | g.51912574A>C | CA364439983 | PKHD1 | c.6124T>G (p.Ser2042Ala) c.5482T>G (p.Ser1828Ala) c.5413T>G (p.Ser1805Ala) c.199T>G (p.Ser67Ala) c.6049T>G (p.Ser2017Ala) c.5860T>G (p.Ser1954Ala) c.4264T>G (p.Ser1422Ala) n.6400T>G | |
6 | g.51912574A>G | CA364439984 | PKHD1 | c.6124T>C (p.Ser2042Pro) c.5482T>C (p.Ser1828Pro) c.5413T>C (p.Ser1805Pro) c.199T>C (p.Ser67Pro) c.6049T>C (p.Ser2017Pro) c.5860T>C (p.Ser1954Pro) c.4264T>C (p.Ser1422Pro) n.6400T>C | gnomAD v4 |
6 | g.51912574A>T | CA364439985 | PKHD1 | c.6124T>A (p.Ser2042Thr) c.5482T>A (p.Ser1828Thr) c.5413T>A (p.Ser1805Thr) c.199T>A (p.Ser67Thr) c.6049T>A (p.Ser2017Thr) c.5860T>A (p.Ser1954Thr) c.4264T>A (p.Ser1422Thr) n.6400T>A | |
6 | g.51912575A>C | CA450416059 | PKHD1 | c.6123T>G (p.Gly2041=) c.5481T>G (p.Gly1827=) c.5412T>G (p.Gly1804=) c.198T>G (p.Gly66=) c.6048T>G (p.Gly2016=) c.5859T>G (p.Gly1953=) c.4263T>G (p.Gly1421=) n.6399T>G | |
6 | g.51912575A>G | CA450416058 | PKHD1 | c.6123T>C (p.Gly2041=) c.5481T>C (p.Gly1827=) c.5412T>C (p.Gly1804=) c.198T>C (p.Gly66=) c.6048T>C (p.Gly2016=) c.5859T>C (p.Gly1953=) c.4263T>C (p.Gly1421=) n.6399T>C | |
6 | g.51912575A>T | CA450416057 | PKHD1 | c.6123T>A (p.Gly2041=) c.5481T>A (p.Gly1827=) c.5412T>A (p.Gly1804=) c.198T>A (p.Gly66=) c.6048T>A (p.Gly2016=) c.5859T>A (p.Gly1953=) c.4263T>A (p.Gly1421=) n.6399T>A | |
6 | g.51912576C>A | CA364439986 | PKHD1 | c.6122G>T (p.Gly2041Val) c.5480G>T (p.Gly1827Val) c.5411G>T (p.Gly1804Val) c.197G>T (p.Gly66Val) c.6047G>T (p.Gly2016Val) c.5858G>T (p.Gly1953Val) c.4262G>T (p.Gly1421Val) n.6398G>T | ClinVar dbSNP |
6 | g.51912576C>G | CA364439987 | PKHD1 | c.6122G>C (p.Gly2041Ala) c.5480G>C (p.Gly1827Ala) c.5411G>C (p.Gly1804Ala) c.197G>C (p.Gly66Ala) c.6047G>C (p.Gly2016Ala) c.5858G>C (p.Gly1953Ala) c.4262G>C (p.Gly1421Ala) n.6398G>C | |
6 | g.51912576C>T | CA364439988 | PKHD1 | c.6122G>A (p.Gly2041Asp) c.5480G>A (p.Gly1827Asp) c.5411G>A (p.Gly1804Asp) c.197G>A (p.Gly66Asp) c.6047G>A (p.Gly2016Asp) c.5858G>A (p.Gly1953Asp) c.4262G>A (p.Gly1421Asp) n.6398G>A | |
6 | g.51912576_51912579delinsCCTA | CA1628583559 | PKHD1 | c.6122-3_6122delinsTAGG c.5480-3_5480delinsTAGG c.5411-3_5411delinsTAGG c.197-3_197delinsTAGG c.6047-3_6047delinsTAGG c.5858-3_5858delinsTAGG c.4262-3_4262delinsTAGG n.6398-3_6398delinsTAGG | |
6 | g.51912577C>A | CA364439991 | PKHD1 | c.6122-1G>T (n.6122-1G>T) c.5480-1G>T (n.5480-1G>T) c.5411-1G>T (n.5411-1G>T) c.197-1G>T (n.197-1G>T) c.6047-1G>T (n.6047-1G>T) c.5858-1G>T (n.5858-1G>T) c.4262-1G>T (n.4262-1G>T) n.6398-1G>T | gnomAD v4 |
6 | g.51912577C>G | CA364439990 | PKHD1 | c.6122-1G>C (n.6122-1G>C) c.5480-1G>C (n.5480-1G>C) c.5411-1G>C (n.5411-1G>C) c.197-1G>C (n.197-1G>C) c.6047-1G>C (n.6047-1G>C) c.5858-1G>C (n.5858-1G>C) c.4262-1G>C (n.4262-1G>C) n.6398-1G>C | |
6 | g.51912577C>T | CA364439989 | PKHD1 | c.6122-1G>A (n.6122-1G>A) c.5480-1G>A (n.5480-1G>A) c.5411-1G>A (n.5411-1G>A) c.197-1G>A (n.197-1G>A) c.6047-1G>A (n.6047-1G>A) c.5858-1G>A (n.5858-1G>A) c.4262-1G>A (n.4262-1G>A) n.6398-1G>A | gnomAD v4 |
6 | g.51912577_51912579delinsT | CA16041047 | PKHD1 | c.6122-3_6122-1delinsA (n.6122-3_6122-1delinsA) c.5480-3_5480-1delinsA (n.5480-3_5480-1delinsA) c.5411-3_5411-1delinsA (n.5411-3_5411-1delinsA) c.197-3_197-1delinsA (n.197-3_197-1delinsA) c.6047-3_6047-1delinsA (n.6047-3_6047-1delinsA) c.5858-3_5858-1delinsA (n.5858-3_5858-1delinsA) c.4262-3_4262-1delinsA (n.4262-3_4262-1delinsA) n.6398-3_6398-1delinsA | ClinVar dbSNP |
6 | g.51912578T>A | CA364439993 | PKHD1 | c.6122-2A>T (n.6122-2A>T) c.5480-2A>T (n.5480-2A>T) c.5411-2A>T (n.5411-2A>T) c.197-2A>T (n.197-2A>T) c.6047-2A>T (n.6047-2A>T) c.5858-2A>T (n.5858-2A>T) c.4262-2A>T (n.4262-2A>T) n.6398-2A>T | |
6 | g.51912578T>C | CA364439994 | PKHD1 | c.6122-2A>G (n.6122-2A>G) c.5480-2A>G (n.5480-2A>G) c.5411-2A>G (n.5411-2A>G) c.197-2A>G (n.197-2A>G) c.6047-2A>G (n.6047-2A>G) c.5858-2A>G (n.5858-2A>G) c.4262-2A>G (n.4262-2A>G) n.6398-2A>G | |
6 | g.51912578T>G | CA364439995 | PKHD1 | c.6122-2A>C (n.6122-2A>C) c.5480-2A>C (n.5480-2A>C) c.5411-2A>C (n.5411-2A>C) c.197-2A>C (n.197-2A>C) c.6047-2A>C (n.6047-2A>C) c.5858-2A>C (n.5858-2A>C) c.4262-2A>C (n.4262-2A>C) n.6398-2A>C | dbSNP |
6 | g.51912578T= | CA1628583570 | PKHD1 | c.6122-2A= (n.6122-2A=) c.5480-2A= (n.5480-2A=) c.5411-2A= (n.5411-2A=) c.197-2A= (n.197-2A=) c.6047-2A= (n.6047-2A=) c.5858-2A= (n.5858-2A=) c.4262-2A= (n.4262-2A=) n.6398-2A= | |
6 | g.51912582G>C | CA915944278 | PKHD1 | c.6122-6C>G (n.6122-6C>G) c.5480-6C>G (n.5480-6C>G) c.5411-6C>G (n.5411-6C>G) c.197-6C>G (n.197-6C>G) c.6047-6C>G (n.6047-6C>G) c.5858-6C>G (n.5858-6C>G) c.4262-6C>G (n.4262-6C>G) n.6398-6C>G | ClinVar dbSNP |
6 | g.51912582G= | CA1628583573 | PKHD1 | c.6122-6C= (n.6122-6C=) c.5480-6C= (n.5480-6C=) c.5411-6C= (n.5411-6C=) c.197-6C= (n.197-6C=) c.6047-6C= (n.6047-6C=) c.5858-6C= (n.5858-6C=) c.4262-6C= (n.4262-6C=) n.6398-6C= | |
6 | g.51912583C>T | CA2679081923 | PKHD1 | c.6122-7G>A (n.6122-7G>A) c.5480-7G>A (n.5480-7G>A) c.5411-7G>A (n.5411-7G>A) c.197-7G>A (n.197-7G>A) c.6047-7G>A (n.6047-7G>A) c.5858-7G>A (n.5858-7G>A) c.4262-7G>A (n.4262-7G>A) n.6398-7G>A | gnomAD v4 |
6 | g.51912585G>A | CA2578667772 | PKHD1 | c.6122-9C>T (n.6122-9C>T) c.5480-9C>T (n.5480-9C>T) c.5411-9C>T (n.5411-9C>T) c.197-9C>T (n.197-9C>T) c.6047-9C>T (n.6047-9C>T) c.5858-9C>T (n.5858-9C>T) c.4262-9C>T (n.4262-9C>T) n.6398-9C>T | gnomAD v4 |
6 | g.51912585G>T | CA2679081924 | PKHD1 | c.6122-9C>A (n.6122-9C>A) c.5480-9C>A (n.5480-9C>A) c.5411-9C>A (n.5411-9C>A) c.197-9C>A (n.197-9C>A) c.6047-9C>A (n.6047-9C>A) c.5858-9C>A (n.5858-9C>A) c.4262-9C>A (n.4262-9C>A) n.6398-9C>A | gnomAD v4 |
6 | g.51912585dup | CA2739273109 | PKHD1 | c.6122-9dup (n.6122-9dup) c.5480-9dup (n.5480-9dup) c.5411-9dup (n.5411-9dup) c.197-9dup (n.197-9dup) c.6047-9dup (n.6047-9dup) c.5858-9dup (n.5858-9dup) c.4262-9dup (n.4262-9dup) n.6398-9dup | ClinVar |
6 | g.51912586C>T | CA2573140905 | PKHD1 | c.6122-10G>A (n.6122-10G>A) c.5480-10G>A (n.5480-10G>A) c.5411-10G>A (n.5411-10G>A) c.197-10G>A (n.197-10G>A) c.6047-10G>A (n.6047-10G>A) c.5858-10G>A (n.5858-10G>A) c.4262-10G>A (n.4262-10G>A) n.6398-10G>A | ClinVar dbSNP gnomAD v4 |
6 | g.51912588del | CA2679081925 | PKHD1 | c.6122-10del (n.6122-10del) c.5480-10del (n.5480-10del) c.5411-10del (n.5411-10del) c.197-10del (n.197-10del) c.6047-10del (n.6047-10del) c.5858-10del (n.5858-10del) c.4262-10del (n.4262-10del) n.6398-10del | gnomAD v4 |
6 | g.51912587C= | CA1628583575 | PKHD1 | c.6122-11G= (n.6122-11G=) c.5480-11G= (n.5480-11G=) c.5411-11G= (n.5411-11G=) c.197-11G= (n.197-11G=) c.6047-11G= (n.6047-11G=) c.5858-11G= (n.5858-11G=) c.4262-11G= (n.4262-11G=) n.6398-11G= | |
6 | g.51912587C>T | CA825714470 | PKHD1 | c.6122-11G>A (n.6122-11G>A) c.5480-11G>A (n.5480-11G>A) c.5411-11G>A (n.5411-11G>A) c.197-11G>A (n.197-11G>A) c.6047-11G>A (n.6047-11G>A) c.5858-11G>A (n.5858-11G>A) c.4262-11G>A (n.4262-11G>A) n.6398-11G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51912587_51912588insAAAACAGCATGGTA | CA2679081926 | PKHD1 | c.6122-12_6122-11insTACCATGCTGTTTT (n.6122-12_6122-11insTACCATGCTGTTTT) c.5480-12_5480-11insTACCATGCTGTTTT (n.5480-12_5480-11insTACCATGCTGTTTT) c.5411-12_5411-11insTACCATGCTGTTTT (n.5411-12_5411-11insTACCATGCTGTTTT) c.197-12_197-11insTACCATGCTGTTTT (n.197-12_197-11insTACCATGCTGTTTT) c.6047-12_6047-11insTACCATGCTGTTTT (n.6047-12_6047-11insTACCATGCTGTTTT) c.5858-12_5858-11insTACCATGCTGTTTT (n.5858-12_5858-11insTACCATGCTGTTTT) c.4262-12_4262-11insTACCATGCTGTTTT (n.4262-12_4262-11insTACCATGCTGTTTT) n.6398-12_6398-11insTACCATGCTGTTTT | gnomAD v4 |
6 | g.51912588C>A | CA2578667773 | PKHD1 | c.6122-12G>T (n.6122-12G>T) c.5480-12G>T (n.5480-12G>T) c.5411-12G>T (n.5411-12G>T) c.197-12G>T (n.197-12G>T) c.6047-12G>T (n.6047-12G>T) c.5858-12G>T (n.5858-12G>T) c.4262-12G>T (n.4262-12G>T) n.6398-12G>T | gnomAD v4 |
6 | g.51912588C= | CA1628583577 | PKHD1 | c.6122-12G= (n.6122-12G=) c.5480-12G= (n.5480-12G=) c.5411-12G= (n.5411-12G=) c.197-12G= (n.197-12G=) c.6047-12G= (n.6047-12G=) c.5858-12G= (n.5858-12G=) c.4262-12G= (n.4262-12G=) n.6398-12G= | |
6 | g.51912588C>T | CA3852325 | PKHD1 | c.6122-12G>A (n.6122-12G>A) c.5480-12G>A (n.5480-12G>A) c.5411-12G>A (n.5411-12G>A) c.197-12G>A (n.197-12G>A) c.6047-12G>A (n.6047-12G>A) c.5858-12G>A (n.5858-12G>A) c.4262-12G>A (n.4262-12G>A) n.6398-12G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51912589G>A | CA3852326 | PKHD1 | c.6122-13C>T (n.6122-13C>T) c.5480-13C>T (n.5480-13C>T) c.5411-13C>T (n.5411-13C>T) c.197-13C>T (n.197-13C>T) c.6047-13C>T (n.6047-13C>T) c.5858-13C>T (n.5858-13C>T) c.4262-13C>T (n.4262-13C>T) n.6398-13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51912589G>C | CA2679081927 | PKHD1 | c.6122-13C>G (n.6122-13C>G) c.5480-13C>G (n.5480-13C>G) c.5411-13C>G (n.5411-13C>G) c.197-13C>G (n.197-13C>G) c.6047-13C>G (n.6047-13C>G) c.5858-13C>G (n.5858-13C>G) c.4262-13C>G (n.4262-13C>G) n.6398-13C>G | ClinVar gnomAD v4 |
6 | g.51912589G= | CA1628583582 | PKHD1 | c.6122-13C= (n.6122-13C=) c.5480-13C= (n.5480-13C=) c.5411-13C= (n.5411-13C=) c.197-13C= (n.197-13C=) c.6047-13C= (n.6047-13C=) c.5858-13C= (n.5858-13C=) c.4262-13C= (n.4262-13C=) n.6398-13C= | |
6 | g.51912589G>T | CA1628583584 | PKHD1 | c.6122-13C>A (n.6122-13C>A) c.5480-13C>A (n.5480-13C>A) c.5411-13C>A (n.5411-13C>A) c.197-13C>A (n.197-13C>A) c.6047-13C>A (n.6047-13C>A) c.5858-13C>A (n.5858-13C>A) c.4262-13C>A (n.4262-13C>A) n.6398-13C>A | dbSNP gnomAD v4 |
6 | g.51912591G>T | CA2679081928 | PKHD1 | c.6122-15C>A (n.6122-15C>A) c.5480-15C>A (n.5480-15C>A) c.5411-15C>A (n.5411-15C>A) c.197-15C>A (n.197-15C>A) c.6047-15C>A (n.6047-15C>A) c.5858-15C>A (n.5858-15C>A) c.4262-15C>A (n.4262-15C>A) n.6398-15C>A | gnomAD v4 |
6 | g.51912592G>A | CA567636161 | PKHD1 | c.6122-16C>T (n.6122-16C>T) c.5480-16C>T (n.5480-16C>T) c.5411-16C>T (n.5411-16C>T) c.197-16C>T (n.197-16C>T) c.6047-16C>T (n.6047-16C>T) c.5858-16C>T (n.5858-16C>T) c.4262-16C>T (n.4262-16C>T) n.6398-16C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51912592G>C | CA2565861889 | PKHD1 | c.6122-16C>G (n.6122-16C>G) c.5480-16C>G (n.5480-16C>G) c.5411-16C>G (n.5411-16C>G) c.197-16C>G (n.197-16C>G) c.6047-16C>G (n.6047-16C>G) c.5858-16C>G (n.5858-16C>G) c.4262-16C>G (n.4262-16C>G) n.6398-16C>G | gnomAD v4 |
6 | g.51912592G= | CA1628583590 | PKHD1 | c.6122-16C= (n.6122-16C=) c.5480-16C= (n.5480-16C=) c.5411-16C= (n.5411-16C=) c.197-16C= (n.197-16C=) c.6047-16C= (n.6047-16C=) c.5858-16C= (n.5858-16C=) c.4262-16C= (n.4262-16C=) n.6398-16C= | |
6 | g.51912592G>T | CA2679081929 | PKHD1 | c.6122-16C>A (n.6122-16C>A) c.5480-16C>A (n.5480-16C>A) c.5411-16C>A (n.5411-16C>A) c.197-16C>A (n.197-16C>A) c.6047-16C>A (n.6047-16C>A) c.5858-16C>A (n.5858-16C>A) c.4262-16C>A (n.4262-16C>A) n.6398-16C>A | gnomAD v4 |
6 | g.51912593A= | CA1628583592 | PKHD1 | c.6122-17T= (n.6122-17T=) c.5480-17T= (n.5480-17T=) c.5411-17T= (n.5411-17T=) c.197-17T= (n.197-17T=) c.6047-17T= (n.6047-17T=) c.5858-17T= (n.5858-17T=) c.4262-17T= (n.4262-17T=) n.6398-17T= | |
6 | g.51912593A>G | CA567636162 | PKHD1 | c.6122-17T>C (n.6122-17T>C) c.5480-17T>C (n.5480-17T>C) c.5411-17T>C (n.5411-17T>C) c.197-17T>C (n.197-17T>C) c.6047-17T>C (n.6047-17T>C) c.5858-17T>C (n.5858-17T>C) c.4262-17T>C (n.4262-17T>C) n.6398-17T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.51912596del | CA2578667774 | PKHD1 | c.6122-17del (n.6122-17del) c.5480-17del (n.5480-17del) c.5411-17del (n.5411-17del) c.197-17del (n.197-17del) c.6047-17del (n.6047-17del) c.5858-17del (n.5858-17del) c.4262-17del (n.4262-17del) n.6398-17del | gnomAD v4 |
6 | g.51912594A= | CA1628583594 | PKHD1 | c.6122-18T= (n.6122-18T=) c.5480-18T= (n.5480-18T=) c.5411-18T= (n.5411-18T=) c.197-18T= (n.197-18T=) c.6047-18T= (n.6047-18T=) c.5858-18T= (n.5858-18T=) c.4262-18T= (n.4262-18T=) n.6398-18T= | |
6 | g.51912594A>C | CA138910878 | PKHD1 | c.6122-18T>G (n.6122-18T>G) c.5480-18T>G (n.5480-18T>G) c.5411-18T>G (n.5411-18T>G) c.197-18T>G (n.197-18T>G) c.6047-18T>G (n.6047-18T>G) c.5858-18T>G (n.5858-18T>G) c.4262-18T>G (n.4262-18T>G) n.6398-18T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51912595A>G | CA2679081930 | PKHD1 | c.6122-19T>C (n.6122-19T>C) c.5480-19T>C (n.5480-19T>C) c.5411-19T>C (n.5411-19T>C) c.197-19T>C (n.197-19T>C) c.6047-19T>C (n.6047-19T>C) c.5858-19T>C (n.5858-19T>C) c.4262-19T>C (n.4262-19T>C) n.6398-19T>C | gnomAD v4 |
6 | g.51912596A>G | CA2679081931 | PKHD1 | c.6122-20T>C (n.6122-20T>C) c.5480-20T>C (n.5480-20T>C) c.5411-20T>C (n.5411-20T>C) c.197-20T>C (n.197-20T>C) c.6047-20T>C (n.6047-20T>C) c.5858-20T>C (n.5858-20T>C) c.4262-20T>C (n.4262-20T>C) n.6398-20T>C | gnomAD v4 |
6 | g.51912597G>A | CA567636163 | PKHD1 | c.6122-21C>T (n.6122-21C>T) c.5480-21C>T (n.5480-21C>T) c.5411-21C>T (n.5411-21C>T) c.197-21C>T (n.197-21C>T) c.6047-21C>T (n.6047-21C>T) c.5858-21C>T (n.5858-21C>T) c.4262-21C>T (n.4262-21C>T) n.6398-21C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51912597G= | CA1628583597 | PKHD1 | c.6122-21C= (n.6122-21C=) c.5480-21C= (n.5480-21C=) c.5411-21C= (n.5411-21C=) c.197-21C= (n.197-21C=) c.6047-21C= (n.6047-21C=) c.5858-21C= (n.5858-21C=) c.4262-21C= (n.4262-21C=) n.6398-21C= | |
6 | g.51912597G>T | CA2679081932 | PKHD1 | c.6122-21C>A (n.6122-21C>A) c.5480-21C>A (n.5480-21C>A) c.5411-21C>A (n.5411-21C>A) c.197-21C>A (n.197-21C>A) c.6047-21C>A (n.6047-21C>A) c.5858-21C>A (n.5858-21C>A) c.4262-21C>A (n.4262-21C>A) n.6398-21C>A | gnomAD v4 |
6 | g.51912598T>A | CA2578667775 | PKHD1 | c.6122-22A>T (n.6122-22A>T) c.5480-22A>T (n.5480-22A>T) c.5411-22A>T (n.5411-22A>T) c.197-22A>T (n.197-22A>T) c.6047-22A>T (n.6047-22A>T) c.5858-22A>T (n.5858-22A>T) c.4262-22A>T (n.4262-22A>T) n.6398-22A>T | |
6 | g.51912598T>C | CA567636164 | PKHD1 | c.6122-22A>G (n.6122-22A>G) c.5480-22A>G (n.5480-22A>G) c.5411-22A>G (n.5411-22A>G) c.197-22A>G (n.197-22A>G) c.6047-22A>G (n.6047-22A>G) c.5858-22A>G (n.5858-22A>G) c.4262-22A>G (n.4262-22A>G) n.6398-22A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51912598T>G | CA2679081933 | PKHD1 | c.6122-22A>C (n.6122-22A>C) c.5480-22A>C (n.5480-22A>C) c.5411-22A>C (n.5411-22A>C) c.197-22A>C (n.197-22A>C) c.6047-22A>C (n.6047-22A>C) c.5858-22A>C (n.5858-22A>C) c.4262-22A>C (n.4262-22A>C) n.6398-22A>C | gnomAD v4 |
6 | g.51912598T= | CA1628583599 | PKHD1 | c.6122-22A= (n.6122-22A=) c.5480-22A= (n.5480-22A=) c.5411-22A= (n.5411-22A=) c.197-22A= (n.197-22A=) c.6047-22A= (n.6047-22A=) c.5858-22A= (n.5858-22A=) c.4262-22A= (n.4262-22A=) n.6398-22A= | |
6 | g.51912600G>A | CA2679081934 | PKHD1 | c.6122-24C>T (n.6122-24C>T) c.5480-24C>T (n.5480-24C>T) c.5411-24C>T (n.5411-24C>T) c.197-24C>T (n.197-24C>T) c.6047-24C>T (n.6047-24C>T) c.5858-24C>T (n.5858-24C>T) c.4262-24C>T (n.4262-24C>T) n.6398-24C>T | gnomAD v4 |
6 | g.51912600G>T | CA2679081935 | PKHD1 | c.6122-24C>A (n.6122-24C>A) c.5480-24C>A (n.5480-24C>A) c.5411-24C>A (n.5411-24C>A) c.197-24C>A (n.197-24C>A) c.6047-24C>A (n.6047-24C>A) c.5858-24C>A (n.5858-24C>A) c.4262-24C>A (n.4262-24C>A) n.6398-24C>A | gnomAD v4 |
6 | g.51912601T>C | CA138910880 | PKHD1 | c.6122-25A>G (n.6122-25A>G) c.5480-25A>G (n.5480-25A>G) c.5411-25A>G (n.5411-25A>G) c.197-25A>G (n.197-25A>G) c.6047-25A>G (n.6047-25A>G) c.5858-25A>G (n.5858-25A>G) c.4262-25A>G (n.4262-25A>G) n.6398-25A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51912601T= | CA1628583602 | PKHD1 | c.6122-25A= (n.6122-25A=) c.5480-25A= (n.5480-25A=) c.5411-25A= (n.5411-25A=) c.197-25A= (n.197-25A=) c.6047-25A= (n.6047-25A=) c.5858-25A= (n.5858-25A=) c.4262-25A= (n.4262-25A=) n.6398-25A= | |
6 | g.51912602C>A | CA2578667777 | PKHD1 | c.6122-26G>T (n.6122-26G>T) c.5480-26G>T (n.5480-26G>T) c.5411-26G>T (n.5411-26G>T) c.197-26G>T (n.197-26G>T) c.6047-26G>T (n.6047-26G>T) c.5858-26G>T (n.5858-26G>T) c.4262-26G>T (n.4262-26G>T) n.6398-26G>T | dbSNP gnomAD v4 |
6 | g.51912602C= | CA1628583604 | PKHD1 | c.6122-26G= (n.6122-26G=) c.5480-26G= (n.5480-26G=) c.5411-26G= (n.5411-26G=) c.197-26G= (n.197-26G=) c.6047-26G= (n.6047-26G=) c.5858-26G= (n.5858-26G=) c.4262-26G= (n.4262-26G=) n.6398-26G= | |
6 | g.51912602C>G | CA3852327 | PKHD1 | c.6122-26G>C (n.6122-26G>C) c.5480-26G>C (n.5480-26G>C) c.5411-26G>C (n.5411-26G>C) c.197-26G>C (n.197-26G>C) c.6047-26G>C (n.6047-26G>C) c.5858-26G>C (n.5858-26G>C) c.4262-26G>C (n.4262-26G>C) n.6398-26G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51912603del | CA2578667776 | PKHD1 | c.6122-26del (n.6122-26del) c.5480-26del (n.5480-26del) c.5411-26del (n.5411-26del) c.197-26del (n.197-26del) c.6047-26del (n.6047-26del) c.5858-26del (n.5858-26del) c.4262-26del (n.4262-26del) n.6398-26del | gnomAD v4 |
6 | g.51912603C>A | CA2578667778 | PKHD1 | c.6122-27G>T (n.6122-27G>T) c.5480-27G>T (n.5480-27G>T) c.5411-27G>T (n.5411-27G>T) c.197-27G>T (n.197-27G>T) c.6047-27G>T (n.6047-27G>T) c.5858-27G>T (n.5858-27G>T) c.4262-27G>T (n.4262-27G>T) n.6398-27G>T | |
6 | g.51912605G>A | CA825714511 | PKHD1 | c.6122-29C>T (n.6122-29C>T) c.5480-29C>T (n.5480-29C>T) c.5411-29C>T (n.5411-29C>T) c.197-29C>T (n.197-29C>T) c.6047-29C>T (n.6047-29C>T) c.5858-29C>T (n.5858-29C>T) c.4262-29C>T (n.4262-29C>T) n.6398-29C>T | dbSNP gnomAD v4 |
6 | g.51912605G= | CA1628583606 | PKHD1 | c.6122-29C= (n.6122-29C=) c.5480-29C= (n.5480-29C=) c.5411-29C= (n.5411-29C=) c.197-29C= (n.197-29C=) c.6047-29C= (n.6047-29C=) c.5858-29C= (n.5858-29C=) c.4262-29C= (n.4262-29C=) n.6398-29C= | |
6 | g.51912605G>T | CA2679081936 | PKHD1 | c.6122-29C>A (n.6122-29C>A) c.5480-29C>A (n.5480-29C>A) c.5411-29C>A (n.5411-29C>A) c.197-29C>A (n.197-29C>A) c.6047-29C>A (n.6047-29C>A) c.5858-29C>A (n.5858-29C>A) c.4262-29C>A (n.4262-29C>A) n.6398-29C>A | gnomAD v4 |
6 | g.51912606A= | CA1628583609 | PKHD1 | c.6122-30T= (n.6122-30T=) c.5480-30T= (n.5480-30T=) c.5411-30T= (n.5411-30T=) c.197-30T= (n.197-30T=) c.6047-30T= (n.6047-30T=) c.5858-30T= (n.5858-30T=) c.4262-30T= (n.4262-30T=) n.6398-30T= | |
6 | g.51912606A>C | CA567636165 | PKHD1 | c.6122-30T>G (n.6122-30T>G) c.5480-30T>G (n.5480-30T>G) c.5411-30T>G (n.5411-30T>G) c.197-30T>G (n.197-30T>G) c.6047-30T>G (n.6047-30T>G) c.5858-30T>G (n.5858-30T>G) c.4262-30T>G (n.4262-30T>G) n.6398-30T>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51912608A= | CA1628583614 | PKHD1 | c.6122-32T= (n.6122-32T=) c.5480-32T= (n.5480-32T=) c.5411-32T= (n.5411-32T=) c.197-32T= (n.197-32T=) c.6047-32T= (n.6047-32T=) c.5858-32T= (n.5858-32T=) c.4262-32T= (n.4262-32T=) n.6398-32T= | |
6 | g.51912608A>C | CA3852328 | PKHD1 | c.6122-32T>G (n.6122-32T>G) c.5480-32T>G (n.5480-32T>G) c.5411-32T>G (n.5411-32T>G) c.197-32T>G (n.197-32T>G) c.6047-32T>G (n.6047-32T>G) c.5858-32T>G (n.5858-32T>G) c.4262-32T>G (n.4262-32T>G) n.6398-32T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51912608A>G | CA138910883 | PKHD1 | c.6122-32T>C (n.6122-32T>C) c.5480-32T>C (n.5480-32T>C) c.5411-32T>C (n.5411-32T>C) c.197-32T>C (n.197-32T>C) c.6047-32T>C (n.6047-32T>C) c.5858-32T>C (n.5858-32T>C) c.4262-32T>C (n.4262-32T>C) n.6398-32T>C | dbSNP gnomAD v4 |
6 | g.51912609A>C | CA2679081937 | PKHD1 | c.6122-33T>G (n.6122-33T>G) c.5480-33T>G (n.5480-33T>G) c.5411-33T>G (n.5411-33T>G) c.197-33T>G (n.197-33T>G) c.6047-33T>G (n.6047-33T>G) c.5858-33T>G (n.5858-33T>G) c.4262-33T>G (n.4262-33T>G) n.6398-33T>G | gnomAD v4 |
6 | g.51912610T>A | CA2679081938 | PKHD1 | c.6122-34A>T (n.6122-34A>T) c.5480-34A>T (n.5480-34A>T) c.5411-34A>T (n.5411-34A>T) c.197-34A>T (n.197-34A>T) c.6047-34A>T (n.6047-34A>T) c.5858-34A>T (n.5858-34A>T) c.4262-34A>T (n.4262-34A>T) n.6398-34A>T | gnomAD v4 |
6 | g.51912610T>C | CA2679081939 | PKHD1 | c.6122-34A>G (n.6122-34A>G) c.5480-34A>G (n.5480-34A>G) c.5411-34A>G (n.5411-34A>G) c.197-34A>G (n.197-34A>G) c.6047-34A>G (n.6047-34A>G) c.5858-34A>G (n.5858-34A>G) c.4262-34A>G (n.4262-34A>G) n.6398-34A>G | gnomAD v4 |
6 | g.51912611T>C | CA567636166 | PKHD1 | c.6122-35A>G (n.6122-35A>G) c.5480-35A>G (n.5480-35A>G) c.5411-35A>G (n.5411-35A>G) c.197-35A>G (n.197-35A>G) c.6047-35A>G (n.6047-35A>G) c.5858-35A>G (n.5858-35A>G) c.4262-35A>G (n.4262-35A>G) n.6398-35A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51912611T>G | CA1628583618 | PKHD1 | c.6122-35A>C (n.6122-35A>C) c.5480-35A>C (n.5480-35A>C) c.5411-35A>C (n.5411-35A>C) c.197-35A>C (n.197-35A>C) c.6047-35A>C (n.6047-35A>C) c.5858-35A>C (n.5858-35A>C) c.4262-35A>C (n.4262-35A>C) n.6398-35A>C | dbSNP |
6 | g.51912611T= | CA1628583616 | PKHD1 | c.6122-35A= (n.6122-35A=) c.5480-35A= (n.5480-35A=) c.5411-35A= (n.5411-35A=) c.197-35A= (n.197-35A=) c.6047-35A= (n.6047-35A=) c.5858-35A= (n.5858-35A=) c.4262-35A= (n.4262-35A=) n.6398-35A= | |
6 | g.51912612T>A | CA2578667779 | PKHD1 | c.6122-36A>T (n.6122-36A>T) c.5480-36A>T (n.5480-36A>T) c.5411-36A>T (n.5411-36A>T) c.197-36A>T (n.197-36A>T) c.6047-36A>T (n.6047-36A>T) c.5858-36A>T (n.5858-36A>T) c.4262-36A>T (n.4262-36A>T) n.6398-36A>T | gnomAD v4 |
6 | g.51912612T>C | CA2679081940 | PKHD1 | c.6122-36A>G (n.6122-36A>G) c.5480-36A>G (n.5480-36A>G) c.5411-36A>G (n.5411-36A>G) c.197-36A>G (n.197-36A>G) c.6047-36A>G (n.6047-36A>G) c.5858-36A>G (n.5858-36A>G) c.4262-36A>G (n.4262-36A>G) n.6398-36A>G | gnomAD v4 |
6 | g.51912613A>G | CA2679081941 | PKHD1 | c.6122-37T>C (n.6122-37T>C) c.5480-37T>C (n.5480-37T>C) c.5411-37T>C (n.5411-37T>C) c.197-37T>C (n.197-37T>C) c.6047-37T>C (n.6047-37T>C) c.5858-37T>C (n.5858-37T>C) c.4262-37T>C (n.4262-37T>C) n.6398-37T>C | gnomAD v4 |
6 | g.51912614A= | CA1628583621 | PKHD1 | c.6122-38T= (n.6122-38T=) c.5480-38T= (n.5480-38T=) c.5411-38T= (n.5411-38T=) c.197-38T= (n.197-38T=) c.6047-38T= (n.6047-38T=) c.5858-38T= (n.5858-38T=) c.4262-38T= (n.4262-38T=) n.6398-38T= | |
6 | g.51912614A>C | CA2679081942 | PKHD1 | c.6122-38T>G (n.6122-38T>G) c.5480-38T>G (n.5480-38T>G) c.5411-38T>G (n.5411-38T>G) c.197-38T>G (n.197-38T>G) c.6047-38T>G (n.6047-38T>G) c.5858-38T>G (n.5858-38T>G) c.4262-38T>G (n.4262-38T>G) n.6398-38T>G | gnomAD v4 |
6 | g.51912614A>G | CA2679081943 | PKHD1 | c.6122-38T>C (n.6122-38T>C) c.5480-38T>C (n.5480-38T>C) c.5411-38T>C (n.5411-38T>C) c.197-38T>C (n.197-38T>C) c.6047-38T>C (n.6047-38T>C) c.5858-38T>C (n.5858-38T>C) c.4262-38T>C (n.4262-38T>C) n.6398-38T>C | gnomAD v4 |
6 | g.51912614A>T | CA3852329 | PKHD1 | c.6122-38T>A (n.6122-38T>A) c.5480-38T>A (n.5480-38T>A) c.5411-38T>A (n.5411-38T>A) c.197-38T>A (n.197-38T>A) c.6047-38T>A (n.6047-38T>A) c.5858-38T>A (n.5858-38T>A) c.4262-38T>A (n.4262-38T>A) n.6398-38T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |