Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2109714G>A | CA7831972 | PKD1 | c.5453C>T (p.Ala1818Val) n.310+2626C>T n.431-364C>T c.233+2102C>T n.790+2626C>T c.140C>T (p.Ala47Val) c.473-1356C>T n.773+2626C>T c.2226+2626C>T (n.2226+2626C>T) n.421+2626C>T c.2408C>T (p.Ala803Val) c.5531C>T (p.Ala1844Val) c.5507C>T (p.Ala1836Val) c.5477C>T (p.Ala1826Val) c.5459C>T (p.Ala1820Val) c.5405C>T (p.Ala1802Val) c.5324C>T (p.Ala1775Val) c.5267C>T (p.Ala1756Val) c.3353C>T (p.Ala1118Val) c.2531C>T (p.Ala844Val) n.5546C>T c.5573C>T (p.Ala1858Val) c.5501C>T (p.Ala1834Val) c.5363C>T (p.Ala1788Val) c.3449C>T (p.Ala1150Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2109714G>C | CA394376999 | PKD1 | c.5453C>G (p.Ala1818Gly) n.310+2626C>G n.431-364C>G c.233+2102C>G n.790+2626C>G c.140C>G (p.Ala47Gly) c.473-1356C>G n.773+2626C>G c.2226+2626C>G (n.2226+2626C>G) n.421+2626C>G c.2408C>G (p.Ala803Gly) c.5531C>G (p.Ala1844Gly) c.5507C>G (p.Ala1836Gly) c.5477C>G (p.Ala1826Gly) c.5459C>G (p.Ala1820Gly) c.5405C>G (p.Ala1802Gly) c.5324C>G (p.Ala1775Gly) c.5267C>G (p.Ala1756Gly) c.3353C>G (p.Ala1118Gly) c.2531C>G (p.Ala844Gly) n.5546C>G c.5573C>G (p.Ala1858Gly) c.5501C>G (p.Ala1834Gly) c.5363C>G (p.Ala1788Gly) c.3449C>G (p.Ala1150Gly) | |
16 | g.2109714G= | CA2202046451 | PKD1 | c.5453C= (p.Ala1818=) n.310+2626C= n.431-364C= c.233+2102C= n.790+2626C= c.140C= (p.Ala47=) c.473-1356C= n.773+2626C= c.2226+2626C= (n.2226+2626C=) n.421+2626C= c.2408C= (p.Ala803=) c.5531C= (p.Ala1844=) c.5507C= (p.Ala1836=) c.5477C= (p.Ala1826=) c.5459C= (p.Ala1820=) c.5405C= (p.Ala1802=) c.5324C= (p.Ala1775=) c.5267C= (p.Ala1756=) c.3353C= (p.Ala1118=) c.2531C= (p.Ala844=) n.5546C= c.5573C= (p.Ala1858=) c.5501C= (p.Ala1834=) c.5363C= (p.Ala1788=) c.3449C= (p.Ala1150=) | |
16 | g.2109714G>T | CA7831973 | PKD1 | c.5453C>A (p.Ala1818Glu) n.310+2626C>A n.431-364C>A c.233+2102C>A n.790+2626C>A c.140C>A (p.Ala47Glu) c.473-1356C>A n.773+2626C>A c.2226+2626C>A (n.2226+2626C>A) n.421+2626C>A c.2408C>A (p.Ala803Glu) c.5531C>A (p.Ala1844Glu) c.5507C>A (p.Ala1836Glu) c.5477C>A (p.Ala1826Glu) c.5459C>A (p.Ala1820Glu) c.5405C>A (p.Ala1802Glu) c.5324C>A (p.Ala1775Glu) c.5267C>A (p.Ala1756Glu) c.3353C>A (p.Ala1118Glu) c.2531C>A (p.Ala844Glu) n.5546C>A c.5573C>A (p.Ala1858Glu) c.5501C>A (p.Ala1834Glu) c.5363C>A (p.Ala1788Glu) c.3449C>A (p.Ala1150Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2109715C>A | CA394377003 | PKD1 | c.5452G>T (p.Ala1818Ser) n.310+2625G>T n.431-365G>T c.233+2101G>T n.790+2625G>T c.139G>T (p.Ala47Ser) c.473-1357G>T n.773+2625G>T c.2226+2625G>T (n.2226+2625G>T) n.421+2625G>T c.2407G>T (p.Ala803Ser) c.5530G>T (p.Ala1844Ser) c.5506G>T (p.Ala1836Ser) c.5476G>T (p.Ala1826Ser) c.5458G>T (p.Ala1820Ser) c.5404G>T (p.Ala1802Ser) c.5323G>T (p.Ala1775Ser) c.5266G>T (p.Ala1756Ser) c.3352G>T (p.Ala1118Ser) c.2530G>T (p.Ala844Ser) n.5545G>T c.5572G>T (p.Ala1858Ser) c.5500G>T (p.Ala1834Ser) c.5362G>T (p.Ala1788Ser) c.3448G>T (p.Ala1150Ser) | |
16 | g.2109715C>G | CA394377004 | PKD1 | c.5452G>C (p.Ala1818Pro) n.310+2625G>C n.431-365G>C c.233+2101G>C n.790+2625G>C c.139G>C (p.Ala47Pro) c.473-1357G>C n.773+2625G>C c.2226+2625G>C (n.2226+2625G>C) n.421+2625G>C c.2407G>C (p.Ala803Pro) c.5530G>C (p.Ala1844Pro) c.5506G>C (p.Ala1836Pro) c.5476G>C (p.Ala1826Pro) c.5458G>C (p.Ala1820Pro) c.5404G>C (p.Ala1802Pro) c.5323G>C (p.Ala1775Pro) c.5266G>C (p.Ala1756Pro) c.3352G>C (p.Ala1118Pro) c.2530G>C (p.Ala844Pro) n.5545G>C c.5572G>C (p.Ala1858Pro) c.5500G>C (p.Ala1834Pro) c.5362G>C (p.Ala1788Pro) c.3448G>C (p.Ala1150Pro) | |
16 | g.2109715C>T | CA394377006 | PKD1 | c.5452G>A (p.Ala1818Thr) n.310+2625G>A n.431-365G>A c.233+2101G>A n.790+2625G>A c.139G>A (p.Ala47Thr) c.473-1357G>A n.773+2625G>A c.2226+2625G>A (n.2226+2625G>A) n.421+2625G>A c.2407G>A (p.Ala803Thr) c.5530G>A (p.Ala1844Thr) c.5506G>A (p.Ala1836Thr) c.5476G>A (p.Ala1826Thr) c.5458G>A (p.Ala1820Thr) c.5404G>A (p.Ala1802Thr) c.5323G>A (p.Ala1775Thr) c.5266G>A (p.Ala1756Thr) c.3352G>A (p.Ala1118Thr) c.2530G>A (p.Ala844Thr) n.5545G>A c.5572G>A (p.Ala1858Thr) c.5500G>A (p.Ala1834Thr) c.5362G>A (p.Ala1788Thr) c.3448G>A (p.Ala1150Thr) | |
16 | g.2109716C>A | CA493047554 | PKD1 | c.5451G>T (p.Val1817=) n.310+2624G>T n.431-366G>T c.233+2100G>T n.790+2624G>T c.138G>T (p.Val46=) c.473-1358G>T n.773+2624G>T c.2226+2624G>T (n.2226+2624G>T) n.421+2624G>T c.2406G>T (p.Val802=) c.5529G>T (p.Val1843=) c.5505G>T (p.Val1835=) c.5475G>T (p.Val1825=) c.5457G>T (p.Val1819=) c.5403G>T (p.Val1801=) c.5322G>T (p.Val1774=) c.5265G>T (p.Val1755=) c.3351G>T (p.Val1117=) c.2529G>T (p.Val843=) n.5544G>T c.5571G>T (p.Val1857=) c.5499G>T (p.Val1833=) c.5361G>T (p.Val1787=) c.3447G>T (p.Val1149=) | |
16 | g.2109716C= | CA2202046452 | PKD1 | c.5451G= (p.Val1817=) n.310+2624G= n.431-366G= c.233+2100G= n.790+2624G= c.138G= (p.Val46=) c.473-1358G= n.773+2624G= c.2226+2624G= (n.2226+2624G=) n.421+2624G= c.2406G= (p.Val802=) c.5529G= (p.Val1843=) c.5505G= (p.Val1835=) c.5475G= (p.Val1825=) c.5457G= (p.Val1819=) c.5403G= (p.Val1801=) c.5322G= (p.Val1774=) c.5265G= (p.Val1755=) c.3351G= (p.Val1117=) c.2529G= (p.Val843=) n.5544G= c.5571G= (p.Val1857=) c.5499G= (p.Val1833=) c.5361G= (p.Val1787=) c.3447G= (p.Val1149=) | |
16 | g.2109716C>G | CA493047556 | PKD1 | c.5451G>C (p.Val1817=) n.310+2624G>C n.431-366G>C c.233+2100G>C n.790+2624G>C c.138G>C (p.Val46=) c.473-1358G>C n.773+2624G>C c.2226+2624G>C (n.2226+2624G>C) n.421+2624G>C c.2406G>C (p.Val802=) c.5529G>C (p.Val1843=) c.5505G>C (p.Val1835=) c.5475G>C (p.Val1825=) c.5457G>C (p.Val1819=) c.5403G>C (p.Val1801=) c.5322G>C (p.Val1774=) c.5265G>C (p.Val1755=) c.3351G>C (p.Val1117=) c.2529G>C (p.Val843=) n.5544G>C c.5571G>C (p.Val1857=) c.5499G>C (p.Val1833=) c.5361G>C (p.Val1787=) c.3447G>C (p.Val1149=) | |
16 | g.2109716C>T | CA7831974 | PKD1 | c.5451G>A (p.Val1817=) n.310+2624G>A n.431-366G>A c.233+2100G>A n.790+2624G>A c.138G>A (p.Val46=) c.473-1358G>A n.773+2624G>A c.2226+2624G>A (n.2226+2624G>A) n.421+2624G>A c.2406G>A (p.Val802=) c.5529G>A (p.Val1843=) c.5505G>A (p.Val1835=) c.5475G>A (p.Val1825=) c.5457G>A (p.Val1819=) c.5403G>A (p.Val1801=) c.5322G>A (p.Val1774=) c.5265G>A (p.Val1755=) c.3351G>A (p.Val1117=) c.2529G>A (p.Val843=) n.5544G>A c.5571G>A (p.Val1857=) c.5499G>A (p.Val1833=) c.5361G>A (p.Val1787=) c.3447G>A (p.Val1149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2109717A>C | CA394377012 | PKD1 | c.5450T>G (p.Val1817Gly) n.310+2623T>G n.431-367T>G c.233+2099T>G n.790+2623T>G c.137T>G (p.Val46Gly) c.473-1359T>G n.773+2623T>G c.2226+2623T>G (n.2226+2623T>G) n.421+2623T>G c.2405T>G (p.Val802Gly) c.5528T>G (p.Val1843Gly) c.5504T>G (p.Val1835Gly) c.5474T>G (p.Val1825Gly) c.5456T>G (p.Val1819Gly) c.5402T>G (p.Val1801Gly) c.5321T>G (p.Val1774Gly) c.5264T>G (p.Val1755Gly) c.3350T>G (p.Val1117Gly) c.2528T>G (p.Val843Gly) n.5543T>G c.5570T>G (p.Val1857Gly) c.5498T>G (p.Val1833Gly) c.5360T>G (p.Val1787Gly) c.3446T>G (p.Val1149Gly) | |
16 | g.2109717A>G | CA394377010 | PKD1 | c.5450T>C (p.Val1817Ala) n.310+2623T>C n.431-367T>C c.233+2099T>C n.790+2623T>C c.137T>C (p.Val46Ala) c.473-1359T>C n.773+2623T>C c.2226+2623T>C (n.2226+2623T>C) n.421+2623T>C c.2405T>C (p.Val802Ala) c.5528T>C (p.Val1843Ala) c.5504T>C (p.Val1835Ala) c.5474T>C (p.Val1825Ala) c.5456T>C (p.Val1819Ala) c.5402T>C (p.Val1801Ala) c.5321T>C (p.Val1774Ala) c.5264T>C (p.Val1755Ala) c.3350T>C (p.Val1117Ala) c.2528T>C (p.Val843Ala) n.5543T>C c.5570T>C (p.Val1857Ala) c.5498T>C (p.Val1833Ala) c.5360T>C (p.Val1787Ala) c.3446T>C (p.Val1149Ala) | |
16 | g.2109717A>T | CA394377009 | PKD1 | c.5450T>A (p.Val1817Glu) n.310+2623T>A n.431-367T>A c.233+2099T>A n.790+2623T>A c.137T>A (p.Val46Glu) c.473-1359T>A n.773+2623T>A c.2226+2623T>A (n.2226+2623T>A) n.421+2623T>A c.2405T>A (p.Val802Glu) c.5528T>A (p.Val1843Glu) c.5504T>A (p.Val1835Glu) c.5474T>A (p.Val1825Glu) c.5456T>A (p.Val1819Glu) c.5402T>A (p.Val1801Glu) c.5321T>A (p.Val1774Glu) c.5264T>A (p.Val1755Glu) c.3350T>A (p.Val1117Glu) c.2528T>A (p.Val843Glu) n.5543T>A c.5570T>A (p.Val1857Glu) c.5498T>A (p.Val1833Glu) c.5360T>A (p.Val1787Glu) c.3446T>A (p.Val1149Glu) | |
16 | g.2109718C>A | CA394377014 | PKD1 | c.5449G>T (p.Val1817Leu) n.310+2622G>T n.431-368G>T c.233+2098G>T n.790+2622G>T c.136G>T (p.Val46Leu) c.473-1360G>T n.773+2622G>T c.2226+2622G>T (n.2226+2622G>T) n.421+2622G>T c.2404G>T (p.Val802Leu) c.5527G>T (p.Val1843Leu) c.5503G>T (p.Val1835Leu) c.5473G>T (p.Val1825Leu) c.5455G>T (p.Val1819Leu) c.5401G>T (p.Val1801Leu) c.5320G>T (p.Val1774Leu) c.5263G>T (p.Val1755Leu) c.3349G>T (p.Val1117Leu) c.2527G>T (p.Val843Leu) n.5542G>T c.5569G>T (p.Val1857Leu) c.5497G>T (p.Val1833Leu) c.5359G>T (p.Val1787Leu) c.3445G>T (p.Val1149Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2109718C= | CA2202046453 | PKD1 | c.5449G= (p.Val1817=) n.310+2622G= n.431-368G= c.233+2098G= n.790+2622G= c.136G= (p.Val46=) c.473-1360G= n.773+2622G= c.2226+2622G= (n.2226+2622G=) n.421+2622G= c.2404G= (p.Val802=) c.5527G= (p.Val1843=) c.5503G= (p.Val1835=) c.5473G= (p.Val1825=) c.5455G= (p.Val1819=) c.5401G= (p.Val1801=) c.5320G= (p.Val1774=) c.5263G= (p.Val1755=) c.3349G= (p.Val1117=) c.2527G= (p.Val843=) n.5542G= c.5569G= (p.Val1857=) c.5497G= (p.Val1833=) c.5359G= (p.Val1787=) c.3445G= (p.Val1149=) | |
16 | g.2109718C>G | CA394377015 | PKD1 | c.5449G>C (p.Val1817Leu) n.310+2622G>C n.431-368G>C c.233+2098G>C n.790+2622G>C c.136G>C (p.Val46Leu) c.473-1360G>C n.773+2622G>C c.2226+2622G>C (n.2226+2622G>C) n.421+2622G>C c.2404G>C (p.Val802Leu) c.5527G>C (p.Val1843Leu) c.5503G>C (p.Val1835Leu) c.5473G>C (p.Val1825Leu) c.5455G>C (p.Val1819Leu) c.5401G>C (p.Val1801Leu) c.5320G>C (p.Val1774Leu) c.5263G>C (p.Val1755Leu) c.3349G>C (p.Val1117Leu) c.2527G>C (p.Val843Leu) n.5542G>C c.5569G>C (p.Val1857Leu) c.5497G>C (p.Val1833Leu) c.5359G>C (p.Val1787Leu) c.3445G>C (p.Val1149Leu) | |
16 | g.2109718C>T | CA7831975 | PKD1 | c.5449G>A (p.Val1817Met) n.310+2622G>A n.431-368G>A c.233+2098G>A n.790+2622G>A c.136G>A (p.Val46Met) c.473-1360G>A n.773+2622G>A c.2226+2622G>A (n.2226+2622G>A) n.421+2622G>A c.2404G>A (p.Val802Met) c.5527G>A (p.Val1843Met) c.5503G>A (p.Val1835Met) c.5473G>A (p.Val1825Met) c.5455G>A (p.Val1819Met) c.5401G>A (p.Val1801Met) c.5320G>A (p.Val1774Met) c.5263G>A (p.Val1755Met) c.3349G>A (p.Val1117Met) c.2527G>A (p.Val843Met) n.5542G>A c.5569G>A (p.Val1857Met) c.5497G>A (p.Val1833Met) c.5359G>A (p.Val1787Met) c.3445G>A (p.Val1149Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2109719G>A | CA7831976 | PKD1 | c.5448C>T (p.Phe1816=) n.310+2621C>T n.431-369C>T c.233+2097C>T n.790+2621C>T c.135C>T (p.Phe45=) c.473-1361C>T n.773+2621C>T c.2226+2621C>T (n.2226+2621C>T) n.421+2621C>T c.2403C>T (p.Phe801=) c.5526C>T (p.Phe1842=) c.5502C>T (p.Phe1834=) c.5472C>T (p.Phe1824=) c.5454C>T (p.Phe1818=) c.5400C>T (p.Phe1800=) c.5319C>T (p.Phe1773=) c.5262C>T (p.Phe1754=) c.3348C>T (p.Phe1116=) c.2526C>T (p.Phe842=) n.5541C>T c.5568C>T (p.Phe1856=) c.5496C>T (p.Phe1832=) c.5358C>T (p.Phe1786=) c.3444C>T (p.Phe1148=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2109719G>C | CA7831977 | PKD1 | c.5448C>G (p.Phe1816Leu) n.310+2621C>G n.431-369C>G c.233+2097C>G n.790+2621C>G c.135C>G (p.Phe45Leu) c.473-1361C>G n.773+2621C>G c.2226+2621C>G (n.2226+2621C>G) n.421+2621C>G c.2403C>G (p.Phe801Leu) c.5526C>G (p.Phe1842Leu) c.5502C>G (p.Phe1834Leu) c.5472C>G (p.Phe1824Leu) c.5454C>G (p.Phe1818Leu) c.5400C>G (p.Phe1800Leu) c.5319C>G (p.Phe1773Leu) c.5262C>G (p.Phe1754Leu) c.3348C>G (p.Phe1116Leu) c.2526C>G (p.Phe842Leu) n.5541C>G c.5568C>G (p.Phe1856Leu) c.5496C>G (p.Phe1832Leu) c.5358C>G (p.Phe1786Leu) c.3444C>G (p.Phe1148Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2109719G= | CA2202046454 | PKD1 | c.5448C= (p.Phe1816=) n.310+2621C= n.431-369C= c.233+2097C= n.790+2621C= c.135C= (p.Phe45=) c.473-1361C= n.773+2621C= c.2226+2621C= (n.2226+2621C=) n.421+2621C= c.2403C= (p.Phe801=) c.5526C= (p.Phe1842=) c.5502C= (p.Phe1834=) c.5472C= (p.Phe1824=) c.5454C= (p.Phe1818=) c.5400C= (p.Phe1800=) c.5319C= (p.Phe1773=) c.5262C= (p.Phe1754=) c.3348C= (p.Phe1116=) c.2526C= (p.Phe842=) n.5541C= c.5568C= (p.Phe1856=) c.5496C= (p.Phe1832=) c.5358C= (p.Phe1786=) c.3444C= (p.Phe1148=) | |
16 | g.2109719G>T | CA394377020 | PKD1 | c.5448C>A (p.Phe1816Leu) n.310+2621C>A n.431-369C>A c.233+2097C>A n.790+2621C>A c.135C>A (p.Phe45Leu) c.473-1361C>A n.773+2621C>A c.2226+2621C>A (n.2226+2621C>A) n.421+2621C>A c.2403C>A (p.Phe801Leu) c.5526C>A (p.Phe1842Leu) c.5502C>A (p.Phe1834Leu) c.5472C>A (p.Phe1824Leu) c.5454C>A (p.Phe1818Leu) c.5400C>A (p.Phe1800Leu) c.5319C>A (p.Phe1773Leu) c.5262C>A (p.Phe1754Leu) c.3348C>A (p.Phe1116Leu) c.2526C>A (p.Phe842Leu) n.5541C>A c.5568C>A (p.Phe1856Leu) c.5496C>A (p.Phe1832Leu) c.5358C>A (p.Phe1786Leu) c.3444C>A (p.Phe1148Leu) | |
16 | g.2109720A= | CA2202046455 | PKD1 | c.5447T= (p.Phe1816=) n.310+2620T= n.431-370T= c.233+2096T= n.790+2620T= c.134T= (p.Phe45=) c.473-1362T= n.773+2620T= c.2226+2620T= (n.2226+2620T=) n.421+2620T= c.2402T= (p.Phe801=) c.5525T= (p.Phe1842=) c.5501T= (p.Phe1834=) c.5471T= (p.Phe1824=) c.5453T= (p.Phe1818=) c.5399T= (p.Phe1800=) c.5318T= (p.Phe1773=) c.5261T= (p.Phe1754=) c.3347T= (p.Phe1116=) c.2525T= (p.Phe842=) n.5540T= c.5567T= (p.Phe1856=) c.5495T= (p.Phe1832=) c.5357T= (p.Phe1786=) c.3443T= (p.Phe1148=) | |
16 | g.2109720A>C | CA394377022 | PKD1 | c.5447T>G (p.Phe1816Cys) n.310+2620T>G n.431-370T>G c.233+2096T>G n.790+2620T>G c.134T>G (p.Phe45Cys) c.473-1362T>G n.773+2620T>G c.2226+2620T>G (n.2226+2620T>G) n.421+2620T>G c.2402T>G (p.Phe801Cys) c.5525T>G (p.Phe1842Cys) c.5501T>G (p.Phe1834Cys) c.5471T>G (p.Phe1824Cys) c.5453T>G (p.Phe1818Cys) c.5399T>G (p.Phe1800Cys) c.5318T>G (p.Phe1773Cys) c.5261T>G (p.Phe1754Cys) c.3347T>G (p.Phe1116Cys) c.2525T>G (p.Phe842Cys) n.5540T>G c.5567T>G (p.Phe1856Cys) c.5495T>G (p.Phe1832Cys) c.5357T>G (p.Phe1786Cys) c.3443T>G (p.Phe1148Cys) | |
16 | g.2109720A>G | CA394377024 | PKD1 | c.5447T>C (p.Phe1816Ser) n.310+2620T>C n.431-370T>C c.233+2096T>C n.790+2620T>C c.134T>C (p.Phe45Ser) c.473-1362T>C n.773+2620T>C c.2226+2620T>C (n.2226+2620T>C) n.421+2620T>C c.2402T>C (p.Phe801Ser) c.5525T>C (p.Phe1842Ser) c.5501T>C (p.Phe1834Ser) c.5471T>C (p.Phe1824Ser) c.5453T>C (p.Phe1818Ser) c.5399T>C (p.Phe1800Ser) c.5318T>C (p.Phe1773Ser) c.5261T>C (p.Phe1754Ser) c.3347T>C (p.Phe1116Ser) c.2525T>C (p.Phe842Ser) n.5540T>C c.5567T>C (p.Phe1856Ser) c.5495T>C (p.Phe1832Ser) c.5357T>C (p.Phe1786Ser) c.3443T>C (p.Phe1148Ser) | |
16 | g.2109720A>T | CA276781747 | PKD1 | c.5447T>A (p.Phe1816Tyr) n.310+2620T>A n.431-370T>A c.233+2096T>A n.790+2620T>A c.134T>A (p.Phe45Tyr) c.473-1362T>A n.773+2620T>A c.2226+2620T>A (n.2226+2620T>A) n.421+2620T>A c.2402T>A (p.Phe801Tyr) c.5525T>A (p.Phe1842Tyr) c.5501T>A (p.Phe1834Tyr) c.5471T>A (p.Phe1824Tyr) c.5453T>A (p.Phe1818Tyr) c.5399T>A (p.Phe1800Tyr) c.5318T>A (p.Phe1773Tyr) c.5261T>A (p.Phe1754Tyr) c.3347T>A (p.Phe1116Tyr) c.2525T>A (p.Phe842Tyr) n.5540T>A c.5567T>A (p.Phe1856Tyr) c.5495T>A (p.Phe1832Tyr) c.5357T>A (p.Phe1786Tyr) c.3443T>A (p.Phe1148Tyr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2109721A= | CA2202046456 | PKD1 | c.5446T= (p.Phe1816=) n.310+2619T= n.431-371T= c.233+2095T= n.790+2619T= c.133T= (p.Phe45=) c.473-1363T= n.773+2619T= c.2226+2619T= (n.2226+2619T=) n.421+2619T= c.2401T= (p.Phe801=) c.5524T= (p.Phe1842=) c.5500T= (p.Phe1834=) c.5470T= (p.Phe1824=) c.5452T= (p.Phe1818=) c.5398T= (p.Phe1800=) c.5317T= (p.Phe1773=) c.5260T= (p.Phe1754=) c.3346T= (p.Phe1116=) c.2524T= (p.Phe842=) n.5539T= c.5566T= (p.Phe1856=) c.5494T= (p.Phe1832=) c.5356T= (p.Phe1786=) c.3442T= (p.Phe1148=) | |
16 | g.2109721A>C | CA394377027 | PKD1 | c.5446T>G (p.Phe1816Val) n.310+2619T>G n.431-371T>G c.233+2095T>G n.790+2619T>G c.133T>G (p.Phe45Val) c.473-1363T>G n.773+2619T>G c.2226+2619T>G (n.2226+2619T>G) n.421+2619T>G c.2401T>G (p.Phe801Val) c.5524T>G (p.Phe1842Val) c.5500T>G (p.Phe1834Val) c.5470T>G (p.Phe1824Val) c.5452T>G (p.Phe1818Val) c.5398T>G (p.Phe1800Val) c.5317T>G (p.Phe1773Val) c.5260T>G (p.Phe1754Val) c.3346T>G (p.Phe1116Val) c.2524T>G (p.Phe842Val) n.5539T>G c.5566T>G (p.Phe1856Val) c.5494T>G (p.Phe1832Val) c.5356T>G (p.Phe1786Val) c.3442T>G (p.Phe1148Val) | |
16 | g.2109721A>G | CA394377028 | PKD1 | c.5446T>C (p.Phe1816Leu) n.310+2619T>C n.431-371T>C c.233+2095T>C n.790+2619T>C c.133T>C (p.Phe45Leu) c.473-1363T>C n.773+2619T>C c.2226+2619T>C (n.2226+2619T>C) n.421+2619T>C c.2401T>C (p.Phe801Leu) c.5524T>C (p.Phe1842Leu) c.5500T>C (p.Phe1834Leu) c.5470T>C (p.Phe1824Leu) c.5452T>C (p.Phe1818Leu) c.5398T>C (p.Phe1800Leu) c.5317T>C (p.Phe1773Leu) c.5260T>C (p.Phe1754Leu) c.3346T>C (p.Phe1116Leu) c.2524T>C (p.Phe842Leu) n.5539T>C c.5566T>C (p.Phe1856Leu) c.5494T>C (p.Phe1832Leu) c.5356T>C (p.Phe1786Leu) c.3442T>C (p.Phe1148Leu) | |
16 | g.2109721A>T | CA7831978 | PKD1 | c.5446T>A (p.Phe1816Ile) n.310+2619T>A n.431-371T>A c.233+2095T>A n.790+2619T>A c.133T>A (p.Phe45Ile) c.473-1363T>A n.773+2619T>A c.2226+2619T>A (n.2226+2619T>A) n.421+2619T>A c.2401T>A (p.Phe801Ile) c.5524T>A (p.Phe1842Ile) c.5500T>A (p.Phe1834Ile) c.5470T>A (p.Phe1824Ile) c.5452T>A (p.Phe1818Ile) c.5398T>A (p.Phe1800Ile) c.5317T>A (p.Phe1773Ile) c.5260T>A (p.Phe1754Ile) c.3346T>A (p.Phe1116Ile) c.2524T>A (p.Phe842Ile) n.5539T>A c.5566T>A (p.Phe1856Ile) c.5494T>A (p.Phe1832Ile) c.5356T>A (p.Phe1786Ile) c.3442T>A (p.Phe1148Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2109722G>A | CA493047573 | PKD1 | c.5445C>T (p.Ser1815=) n.310+2618C>T n.431-372C>T c.233+2094C>T n.790+2618C>T c.132C>T (p.Ser44=) c.473-1364C>T n.773+2618C>T c.2226+2618C>T (n.2226+2618C>T) n.421+2618C>T c.2400C>T (p.Ser800=) c.5523C>T (p.Ser1841=) c.5499C>T (p.Ser1833=) c.5469C>T (p.Ser1823=) c.5451C>T (p.Ser1817=) c.5397C>T (p.Ser1799=) c.5316C>T (p.Ser1772=) c.5259C>T (p.Ser1753=) c.3345C>T (p.Ser1115=) c.2523C>T (p.Ser841=) n.5538C>T c.5565C>T (p.Ser1855=) c.5493C>T (p.Ser1831=) c.5355C>T (p.Ser1785=) c.3441C>T (p.Ser1147=) | |
16 | g.2109722G>C | CA394377032 | PKD1 | c.5445C>G (p.Ser1815Arg) n.310+2618C>G n.431-372C>G c.233+2094C>G n.790+2618C>G c.132C>G (p.Ser44Arg) c.473-1364C>G n.773+2618C>G c.2226+2618C>G (n.2226+2618C>G) n.421+2618C>G c.2400C>G (p.Ser800Arg) c.5523C>G (p.Ser1841Arg) c.5499C>G (p.Ser1833Arg) c.5469C>G (p.Ser1823Arg) c.5451C>G (p.Ser1817Arg) c.5397C>G (p.Ser1799Arg) c.5316C>G (p.Ser1772Arg) c.5259C>G (p.Ser1753Arg) c.3345C>G (p.Ser1115Arg) c.2523C>G (p.Ser841Arg) n.5538C>G c.5565C>G (p.Ser1855Arg) c.5493C>G (p.Ser1831Arg) c.5355C>G (p.Ser1785Arg) c.3441C>G (p.Ser1147Arg) | |
16 | g.2109722G= | CA2202046457 | PKD1 | c.5445C= (p.Ser1815=) n.310+2618C= n.431-372C= c.233+2094C= n.790+2618C= c.132C= (p.Ser44=) c.473-1364C= n.773+2618C= c.2226+2618C= (n.2226+2618C=) n.421+2618C= c.2400C= (p.Ser800=) c.5523C= (p.Ser1841=) c.5499C= (p.Ser1833=) c.5469C= (p.Ser1823=) c.5451C= (p.Ser1817=) c.5397C= (p.Ser1799=) c.5316C= (p.Ser1772=) c.5259C= (p.Ser1753=) c.3345C= (p.Ser1115=) c.2523C= (p.Ser841=) n.5538C= c.5565C= (p.Ser1855=) c.5493C= (p.Ser1831=) c.5355C= (p.Ser1785=) c.3441C= (p.Ser1147=) | |
16 | g.2109722G>T | CA7831979 | PKD1 | c.5445C>A (p.Ser1815Arg) n.310+2618C>A n.431-372C>A c.233+2094C>A n.790+2618C>A c.132C>A (p.Ser44Arg) c.473-1364C>A n.773+2618C>A c.2226+2618C>A (n.2226+2618C>A) n.421+2618C>A c.2400C>A (p.Ser800Arg) c.5523C>A (p.Ser1841Arg) c.5499C>A (p.Ser1833Arg) c.5469C>A (p.Ser1823Arg) c.5451C>A (p.Ser1817Arg) c.5397C>A (p.Ser1799Arg) c.5316C>A (p.Ser1772Arg) c.5259C>A (p.Ser1753Arg) c.3345C>A (p.Ser1115Arg) c.2523C>A (p.Ser841Arg) n.5538C>A c.5565C>A (p.Ser1855Arg) c.5493C>A (p.Ser1831Arg) c.5355C>A (p.Ser1785Arg) c.3441C>A (p.Ser1147Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2109723C>A | CA394377035 | PKD1 | c.5444G>T (p.Ser1815Ile) n.310+2617G>T n.431-373G>T c.233+2093G>T n.790+2617G>T c.131G>T (p.Ser44Ile) c.473-1365G>T n.773+2617G>T c.2226+2617G>T (n.2226+2617G>T) n.421+2617G>T c.2399G>T (p.Ser800Ile) c.5522G>T (p.Ser1841Ile) c.5498G>T (p.Ser1833Ile) c.5468G>T (p.Ser1823Ile) c.5450G>T (p.Ser1817Ile) c.5396G>T (p.Ser1799Ile) c.5315G>T (p.Ser1772Ile) c.5258G>T (p.Ser1753Ile) c.3344G>T (p.Ser1115Ile) c.2522G>T (p.Ser841Ile) n.5537G>T c.5564G>T (p.Ser1855Ile) c.5492G>T (p.Ser1831Ile) c.5354G>T (p.Ser1785Ile) c.3440G>T (p.Ser1147Ile) | |
16 | g.2109723C>G | CA394377037 | PKD1 | c.5444G>C (p.Ser1815Thr) n.310+2617G>C n.431-373G>C c.233+2093G>C n.790+2617G>C c.131G>C (p.Ser44Thr) c.473-1365G>C n.773+2617G>C c.2226+2617G>C (n.2226+2617G>C) n.421+2617G>C c.2399G>C (p.Ser800Thr) c.5522G>C (p.Ser1841Thr) c.5498G>C (p.Ser1833Thr) c.5468G>C (p.Ser1823Thr) c.5450G>C (p.Ser1817Thr) c.5396G>C (p.Ser1799Thr) c.5315G>C (p.Ser1772Thr) c.5258G>C (p.Ser1753Thr) c.3344G>C (p.Ser1115Thr) c.2522G>C (p.Ser841Thr) n.5537G>C c.5564G>C (p.Ser1855Thr) c.5492G>C (p.Ser1831Thr) c.5354G>C (p.Ser1785Thr) c.3440G>C (p.Ser1147Thr) | |
16 | g.2109723C>T | CA394377038 | PKD1 | c.5444G>A (p.Ser1815Asn) n.310+2617G>A n.431-373G>A c.233+2093G>A n.790+2617G>A c.131G>A (p.Ser44Asn) c.473-1365G>A n.773+2617G>A c.2226+2617G>A (n.2226+2617G>A) n.421+2617G>A c.2399G>A (p.Ser800Asn) c.5522G>A (p.Ser1841Asn) c.5498G>A (p.Ser1833Asn) c.5468G>A (p.Ser1823Asn) c.5450G>A (p.Ser1817Asn) c.5396G>A (p.Ser1799Asn) c.5315G>A (p.Ser1772Asn) c.5258G>A (p.Ser1753Asn) c.3344G>A (p.Ser1115Asn) c.2522G>A (p.Ser841Asn) n.5537G>A c.5564G>A (p.Ser1855Asn) c.5492G>A (p.Ser1831Asn) c.5354G>A (p.Ser1785Asn) c.3440G>A (p.Ser1147Asn) | |
16 | g.2109724T>A | CA394377040 | PKD1 | c.5443A>T (p.Ser1815Cys) n.310+2616A>T n.431-374A>T c.233+2092A>T n.790+2616A>T c.130A>T (p.Ser44Cys) c.473-1366A>T n.773+2616A>T c.2226+2616A>T (n.2226+2616A>T) n.421+2616A>T c.2398A>T (p.Ser800Cys) c.5521A>T (p.Ser1841Cys) c.5497A>T (p.Ser1833Cys) c.5467A>T (p.Ser1823Cys) c.5449A>T (p.Ser1817Cys) c.5395A>T (p.Ser1799Cys) c.5314A>T (p.Ser1772Cys) c.5257A>T (p.Ser1753Cys) c.3343A>T (p.Ser1115Cys) c.2521A>T (p.Ser841Cys) n.5536A>T c.5563A>T (p.Ser1855Cys) c.5491A>T (p.Ser1831Cys) c.5353A>T (p.Ser1785Cys) c.3439A>T (p.Ser1147Cys) | |
16 | g.2109724T>C | CA7831980 | PKD1 | c.5443A>G (p.Ser1815Gly) n.310+2616A>G n.431-374A>G c.233+2092A>G n.790+2616A>G c.130A>G (p.Ser44Gly) c.473-1366A>G n.773+2616A>G c.2226+2616A>G (n.2226+2616A>G) n.421+2616A>G c.2398A>G (p.Ser800Gly) c.5521A>G (p.Ser1841Gly) c.5497A>G (p.Ser1833Gly) c.5467A>G (p.Ser1823Gly) c.5449A>G (p.Ser1817Gly) c.5395A>G (p.Ser1799Gly) c.5314A>G (p.Ser1772Gly) c.5257A>G (p.Ser1753Gly) c.3343A>G (p.Ser1115Gly) c.2521A>G (p.Ser841Gly) n.5536A>G c.5563A>G (p.Ser1855Gly) c.5491A>G (p.Ser1831Gly) c.5353A>G (p.Ser1785Gly) c.3439A>G (p.Ser1147Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2109724T>G | CA394377043 | PKD1 | c.5443A>C (p.Ser1815Arg) n.310+2616A>C n.431-374A>C c.233+2092A>C n.790+2616A>C c.130A>C (p.Ser44Arg) c.473-1366A>C n.773+2616A>C c.2226+2616A>C (n.2226+2616A>C) n.421+2616A>C c.2398A>C (p.Ser800Arg) c.5521A>C (p.Ser1841Arg) c.5497A>C (p.Ser1833Arg) c.5467A>C (p.Ser1823Arg) c.5449A>C (p.Ser1817Arg) c.5395A>C (p.Ser1799Arg) c.5314A>C (p.Ser1772Arg) c.5257A>C (p.Ser1753Arg) c.3343A>C (p.Ser1115Arg) c.2521A>C (p.Ser841Arg) n.5536A>C c.5563A>C (p.Ser1855Arg) c.5491A>C (p.Ser1831Arg) c.5353A>C (p.Ser1785Arg) c.3439A>C (p.Ser1147Arg) | |
16 | g.2109724T= | CA2202046458 | PKD1 | c.5443A= (p.Ser1815=) n.310+2616A= n.431-374A= c.233+2092A= n.790+2616A= c.130A= (p.Ser44=) c.473-1366A= n.773+2616A= c.2226+2616A= (n.2226+2616A=) n.421+2616A= c.2398A= (p.Ser800=) c.5521A= (p.Ser1841=) c.5497A= (p.Ser1833=) c.5467A= (p.Ser1823=) c.5449A= (p.Ser1817=) c.5395A= (p.Ser1799=) c.5314A= (p.Ser1772=) c.5257A= (p.Ser1753=) c.3343A= (p.Ser1115=) c.2521A= (p.Ser841=) n.5536A= c.5563A= (p.Ser1855=) c.5491A= (p.Ser1831=) c.5353A= (p.Ser1785=) c.3439A= (p.Ser1147=) | |
16 | g.2109725G>A | CA7831981 | PKD1 | c.5442C>T (p.Gly1814=) n.310+2615C>T n.431-375C>T c.233+2091C>T n.790+2615C>T c.129C>T (p.Gly43=) c.473-1367C>T n.773+2615C>T c.2226+2615C>T (n.2226+2615C>T) n.421+2615C>T c.2397C>T (p.Gly799=) c.5520C>T (p.Gly1840=) c.5496C>T (p.Gly1832=) c.5466C>T (p.Gly1822=) c.5448C>T (p.Gly1816=) c.5394C>T (p.Gly1798=) c.5313C>T (p.Gly1771=) c.5256C>T (p.Gly1752=) c.3342C>T (p.Gly1114=) c.2520C>T (p.Gly840=) n.5535C>T c.5562C>T (p.Gly1854=) c.5490C>T (p.Gly1830=) c.5352C>T (p.Gly1784=) c.3438C>T (p.Gly1146=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2109725G>C | CA493047574 | PKD1 | c.5442C>G (p.Gly1814=) n.310+2615C>G n.431-375C>G c.233+2091C>G n.790+2615C>G c.129C>G (p.Gly43=) c.473-1367C>G n.773+2615C>G c.2226+2615C>G (n.2226+2615C>G) n.421+2615C>G c.2397C>G (p.Gly799=) c.5520C>G (p.Gly1840=) c.5496C>G (p.Gly1832=) c.5466C>G (p.Gly1822=) c.5448C>G (p.Gly1816=) c.5394C>G (p.Gly1798=) c.5313C>G (p.Gly1771=) c.5256C>G (p.Gly1752=) c.3342C>G (p.Gly1114=) c.2520C>G (p.Gly840=) n.5535C>G c.5562C>G (p.Gly1854=) c.5490C>G (p.Gly1830=) c.5352C>G (p.Gly1784=) c.3438C>G (p.Gly1146=) | |
16 | g.2109725G= | CA2202046459 | PKD1 | c.5442C= (p.Gly1814=) n.310+2615C= n.431-375C= c.233+2091C= n.790+2615C= c.129C= (p.Gly43=) c.473-1367C= n.773+2615C= c.2226+2615C= (n.2226+2615C=) n.421+2615C= c.2397C= (p.Gly799=) c.5520C= (p.Gly1840=) c.5496C= (p.Gly1832=) c.5466C= (p.Gly1822=) c.5448C= (p.Gly1816=) c.5394C= (p.Gly1798=) c.5313C= (p.Gly1771=) c.5256C= (p.Gly1752=) c.3342C= (p.Gly1114=) c.2520C= (p.Gly840=) n.5535C= c.5562C= (p.Gly1854=) c.5490C= (p.Gly1830=) c.5352C= (p.Gly1784=) c.3438C= (p.Gly1146=) | |
16 | g.2109725G>T | CA493047575 | PKD1 | c.5442C>A (p.Gly1814=) n.310+2615C>A n.431-375C>A c.233+2091C>A n.790+2615C>A c.129C>A (p.Gly43=) c.473-1367C>A n.773+2615C>A c.2226+2615C>A (n.2226+2615C>A) n.421+2615C>A c.2397C>A (p.Gly799=) c.5520C>A (p.Gly1840=) c.5496C>A (p.Gly1832=) c.5466C>A (p.Gly1822=) c.5448C>A (p.Gly1816=) c.5394C>A (p.Gly1798=) c.5313C>A (p.Gly1771=) c.5256C>A (p.Gly1752=) c.3342C>A (p.Gly1114=) c.2520C>A (p.Gly840=) n.5535C>A c.5562C>A (p.Gly1854=) c.5490C>A (p.Gly1830=) c.5352C>A (p.Gly1784=) c.3438C>A (p.Gly1146=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2109726C>A | CA7831982 | PKD1 | c.5441G>T (p.Gly1814Val) n.310+2614G>T n.431-376G>T c.233+2090G>T n.790+2614G>T c.128G>T (p.Gly43Val) c.473-1368G>T n.773+2614G>T c.2226+2614G>T (n.2226+2614G>T) n.421+2614G>T c.2396G>T (p.Gly799Val) c.5519G>T (p.Gly1840Val) c.5495G>T (p.Gly1832Val) c.5465G>T (p.Gly1822Val) c.5447G>T (p.Gly1816Val) c.5393G>T (p.Gly1798Val) c.5312G>T (p.Gly1771Val) c.5255G>T (p.Gly1752Val) c.3341G>T (p.Gly1114Val) c.2519G>T (p.Gly840Val) n.5534G>T c.5561G>T (p.Gly1854Val) c.5489G>T (p.Gly1830Val) c.5351G>T (p.Gly1784Val) c.3437G>T (p.Gly1146Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2109726C= | CA2202046460 | PKD1 | c.5441G= (p.Gly1814=) n.310+2614G= n.431-376G= c.233+2090G= n.790+2614G= c.128G= (p.Gly43=) c.473-1368G= n.773+2614G= c.2226+2614G= (n.2226+2614G=) n.421+2614G= c.2396G= (p.Gly799=) c.5519G= (p.Gly1840=) c.5495G= (p.Gly1832=) c.5465G= (p.Gly1822=) c.5447G= (p.Gly1816=) c.5393G= (p.Gly1798=) c.5312G= (p.Gly1771=) c.5255G= (p.Gly1752=) c.3341G= (p.Gly1114=) c.2519G= (p.Gly840=) n.5534G= c.5561G= (p.Gly1854=) c.5489G= (p.Gly1830=) c.5351G= (p.Gly1784=) c.3437G= (p.Gly1146=) | |
16 | g.2109726C>G | CA394377047 | PKD1 | c.5441G>C (p.Gly1814Ala) n.310+2614G>C n.431-376G>C c.233+2090G>C n.790+2614G>C c.128G>C (p.Gly43Ala) c.473-1368G>C n.773+2614G>C c.2226+2614G>C (n.2226+2614G>C) n.421+2614G>C c.2396G>C (p.Gly799Ala) c.5519G>C (p.Gly1840Ala) c.5495G>C (p.Gly1832Ala) c.5465G>C (p.Gly1822Ala) c.5447G>C (p.Gly1816Ala) c.5393G>C (p.Gly1798Ala) c.5312G>C (p.Gly1771Ala) c.5255G>C (p.Gly1752Ala) c.3341G>C (p.Gly1114Ala) c.2519G>C (p.Gly840Ala) n.5534G>C c.5561G>C (p.Gly1854Ala) c.5489G>C (p.Gly1830Ala) c.5351G>C (p.Gly1784Ala) c.3437G>C (p.Gly1146Ala) | |
16 | g.2109726C>T | CA394377049 | PKD1 | c.5441G>A (p.Gly1814Asp) n.310+2614G>A n.431-376G>A c.233+2090G>A n.790+2614G>A c.128G>A (p.Gly43Asp) c.473-1368G>A n.773+2614G>A c.2226+2614G>A (n.2226+2614G>A) n.421+2614G>A c.2396G>A (p.Gly799Asp) c.5519G>A (p.Gly1840Asp) c.5495G>A (p.Gly1832Asp) c.5465G>A (p.Gly1822Asp) c.5447G>A (p.Gly1816Asp) c.5393G>A (p.Gly1798Asp) c.5312G>A (p.Gly1771Asp) c.5255G>A (p.Gly1752Asp) c.3341G>A (p.Gly1114Asp) c.2519G>A (p.Gly840Asp) n.5534G>A c.5561G>A (p.Gly1854Asp) c.5489G>A (p.Gly1830Asp) c.5351G>A (p.Gly1784Asp) c.3437G>A (p.Gly1146Asp) | gnomAD v4 |
16 | g.2109727C>A | CA394377050 | PKD1 | c.5440G>T (p.Gly1814Cys) n.310+2613G>T n.431-377G>T c.233+2089G>T n.790+2613G>T c.127G>T (p.Gly43Cys) c.473-1369G>T n.773+2613G>T c.2226+2613G>T (n.2226+2613G>T) n.421+2613G>T c.2395G>T (p.Gly799Cys) c.5518G>T (p.Gly1840Cys) c.5494G>T (p.Gly1832Cys) c.5464G>T (p.Gly1822Cys) c.5446G>T (p.Gly1816Cys) c.5392G>T (p.Gly1798Cys) c.5311G>T (p.Gly1771Cys) c.5254G>T (p.Gly1752Cys) c.3340G>T (p.Gly1114Cys) c.2518G>T (p.Gly840Cys) n.5533G>T c.5560G>T (p.Gly1854Cys) c.5488G>T (p.Gly1830Cys) c.5350G>T (p.Gly1784Cys) c.3436G>T (p.Gly1146Cys) | gnomAD v4 |