Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2109714G>ACA7831972PKD1c.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
16g.2109714G>CCA394376999PKD1c.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)
16g.2109714G=CA2202046451PKD1c.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=)
16g.2109714G>TCA7831973PKD1c.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
16g.2109715C>ACA394377003PKD1c.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)
16g.2109715C>GCA394377004PKD1c.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)
16g.2109715C>TCA394377006PKD1c.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)
16g.2109716C>ACA493047554PKD1c.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=)
16g.2109716C=CA2202046452PKD1c.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=)
16g.2109716C>GCA493047556PKD1c.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=)
16g.2109716C>TCA7831974PKD1c.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
16g.2109717A>CCA394377012PKD1c.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)
16g.2109717A>GCA394377010PKD1c.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)
16g.2109717A>TCA394377009PKD1c.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)
16g.2109718C>ACA394377014PKD1c.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
16g.2109718C=CA2202046453PKD1c.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=)
16g.2109718C>GCA394377015PKD1c.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)
16g.2109718C>TCA7831975PKD1c.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
16g.2109719G>ACA7831976PKD1c.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
16g.2109719G>CCA7831977PKD1c.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
16g.2109719G=CA2202046454PKD1c.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=)
16g.2109719G>TCA394377020PKD1c.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)
16g.2109720A=CA2202046455PKD1c.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=)
16g.2109720A>CCA394377022PKD1c.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)
16g.2109720A>GCA394377024PKD1c.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)
16g.2109720A>TCA276781747PKD1c.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
16g.2109721A=CA2202046456PKD1c.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=)
16g.2109721A>CCA394377027PKD1c.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)
16g.2109721A>GCA394377028PKD1c.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)
16g.2109721A>TCA7831978PKD1c.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
16g.2109722G>ACA493047573PKD1c.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=)
16g.2109722G>CCA394377032PKD1c.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)
16g.2109722G=CA2202046457PKD1c.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=)
16g.2109722G>TCA7831979PKD1c.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
16g.2109723C>ACA394377035PKD1c.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)
16g.2109723C>GCA394377037PKD1c.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)
16g.2109723C>TCA394377038PKD1c.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)
16g.2109724T>ACA394377040PKD1c.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)
16g.2109724T>CCA7831980PKD1c.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
16g.2109724T>GCA394377043PKD1c.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)
16g.2109724T=CA2202046458PKD1c.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=)
16g.2109725G>ACA7831981PKD1c.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
16g.2109725G>CCA493047574PKD1c.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=)
16g.2109725G=CA2202046459PKD1c.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=)
16g.2109725G>TCA493047575PKD1c.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
16g.2109726C>ACA7831982PKD1c.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
16g.2109726C=CA2202046460PKD1c.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=)
16g.2109726C>GCA394377047PKD1c.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)
16g.2109726C>TCA394377049PKD1c.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
16g.2109727C>ACA394377050PKD1c.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

Number of alleles fetched