Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
16g.2109727C>GCA394377051PKD1c.5440G>C (p.Gly1814Arg)
n.310+2613G>C
n.431-377G>C
c.233+2089G>C
n.790+2613G>C
c.127G>C (p.Gly43Arg)
c.473-1369G>C
n.773+2613G>C
c.2226+2613G>C (n.2226+2613G>C)
n.421+2613G>C
c.2395G>C (p.Gly799Arg)
c.5518G>C (p.Gly1840Arg)
c.5494G>C (p.Gly1832Arg)
c.5464G>C (p.Gly1822Arg)
c.5446G>C (p.Gly1816Arg)
c.5392G>C (p.Gly1798Arg)
c.5311G>C (p.Gly1771Arg)
c.5254G>C (p.Gly1752Arg)
c.3340G>C (p.Gly1114Arg)
c.2518G>C (p.Gly840Arg)
n.5533G>C
c.5560G>C (p.Gly1854Arg)
c.5488G>C (p.Gly1830Arg)
c.5350G>C (p.Gly1784Arg)
c.3436G>C (p.Gly1146Arg)
16g.2109727C>TCA394377053PKD1c.5440G>A (p.Gly1814Ser)
n.310+2613G>A
n.431-377G>A
c.233+2089G>A
n.790+2613G>A
c.127G>A (p.Gly43Ser)
c.473-1369G>A
n.773+2613G>A
c.2226+2613G>A (n.2226+2613G>A)
n.421+2613G>A
c.2395G>A (p.Gly799Ser)
c.5518G>A (p.Gly1840Ser)
c.5494G>A (p.Gly1832Ser)
c.5464G>A (p.Gly1822Ser)
c.5446G>A (p.Gly1816Ser)
c.5392G>A (p.Gly1798Ser)
c.5311G>A (p.Gly1771Ser)
c.5254G>A (p.Gly1752Ser)
c.3340G>A (p.Gly1114Ser)
c.2518G>A (p.Gly840Ser)
n.5533G>A
c.5560G>A (p.Gly1854Ser)
c.5488G>A (p.Gly1830Ser)
c.5350G>A (p.Gly1784Ser)
c.3436G>A (p.Gly1146Ser)
16g.2109728T>ACA493047579PKD1c.5439A>T (p.Gly1813=)
n.310+2612A>T
n.431-378A>T
c.233+2088A>T
n.790+2612A>T
c.126A>T (p.Gly42=)
c.473-1370A>T
n.773+2612A>T
c.2226+2612A>T (n.2226+2612A>T)
n.421+2612A>T
c.2394A>T (p.Gly798=)
c.5517A>T (p.Gly1839=)
c.5493A>T (p.Gly1831=)
c.5463A>T (p.Gly1821=)
c.5445A>T (p.Gly1815=)
c.5391A>T (p.Gly1797=)
c.5310A>T (p.Gly1770=)
c.5253A>T (p.Gly1751=)
c.3339A>T (p.Gly1113=)
c.2517A>T (p.Gly839=)
n.5532A>T
c.5559A>T (p.Gly1853=)
c.5487A>T (p.Gly1829=)
c.5349A>T (p.Gly1783=)
c.3435A>T (p.Gly1145=)
16g.2109728T>CCA493047582PKD1c.5439A>G (p.Gly1813=)
n.310+2612A>G
n.431-378A>G
c.233+2088A>G
n.790+2612A>G
c.126A>G (p.Gly42=)
c.473-1370A>G
n.773+2612A>G
c.2226+2612A>G (n.2226+2612A>G)
n.421+2612A>G
c.2394A>G (p.Gly798=)
c.5517A>G (p.Gly1839=)
c.5493A>G (p.Gly1831=)
c.5463A>G (p.Gly1821=)
c.5445A>G (p.Gly1815=)
c.5391A>G (p.Gly1797=)
c.5310A>G (p.Gly1770=)
c.5253A>G (p.Gly1751=)
c.3339A>G (p.Gly1113=)
c.2517A>G (p.Gly839=)
n.5532A>G
c.5559A>G (p.Gly1853=)
c.5487A>G (p.Gly1829=)
c.5349A>G (p.Gly1783=)
c.3435A>G (p.Gly1145=)
16g.2109728T>GCA493047583PKD1c.5439A>C (p.Gly1813=)
n.310+2612A>C
n.431-378A>C
c.233+2088A>C
n.790+2612A>C
c.126A>C (p.Gly42=)
c.473-1370A>C
n.773+2612A>C
c.2226+2612A>C (n.2226+2612A>C)
n.421+2612A>C
c.2394A>C (p.Gly798=)
c.5517A>C (p.Gly1839=)
c.5493A>C (p.Gly1831=)
c.5463A>C (p.Gly1821=)
c.5445A>C (p.Gly1815=)
c.5391A>C (p.Gly1797=)
c.5310A>C (p.Gly1770=)
c.5253A>C (p.Gly1751=)
c.3339A>C (p.Gly1113=)
c.2517A>C (p.Gly839=)
n.5532A>C
c.5559A>C (p.Gly1853=)
c.5487A>C (p.Gly1829=)
c.5349A>C (p.Gly1783=)
c.3435A>C (p.Gly1145=)
16g.2109729C>ACA394377056PKD1c.5438G>T (p.Gly1813Val)
n.310+2611G>T
n.431-379G>T
c.233+2087G>T
n.790+2611G>T
c.125G>T (p.Gly42Val)
c.473-1371G>T
n.773+2611G>T
c.2226+2611G>T (n.2226+2611G>T)
n.421+2611G>T
c.2393G>T (p.Gly798Val)
c.5516G>T (p.Gly1839Val)
c.5492G>T (p.Gly1831Val)
c.5462G>T (p.Gly1821Val)
c.5444G>T (p.Gly1815Val)
c.5390G>T (p.Gly1797Val)
c.5309G>T (p.Gly1770Val)
c.5252G>T (p.Gly1751Val)
c.3338G>T (p.Gly1113Val)
c.2516G>T (p.Gly839Val)
n.5531G>T
c.5558G>T (p.Gly1853Val)
c.5486G>T (p.Gly1829Val)
c.5348G>T (p.Gly1783Val)
c.3434G>T (p.Gly1145Val)
16g.2109729C=CA2202046461PKD1c.5438G= (p.Gly1813=)
n.310+2611G=
n.431-379G=
c.233+2087G=
n.790+2611G=
c.125G= (p.Gly42=)
c.473-1371G=
n.773+2611G=
c.2226+2611G= (n.2226+2611G=)
n.421+2611G=
c.2393G= (p.Gly798=)
c.5516G= (p.Gly1839=)
c.5492G= (p.Gly1831=)
c.5462G= (p.Gly1821=)
c.5444G= (p.Gly1815=)
c.5390G= (p.Gly1797=)
c.5309G= (p.Gly1770=)
c.5252G= (p.Gly1751=)
c.3338G= (p.Gly1113=)
c.2516G= (p.Gly839=)
n.5531G=
c.5558G= (p.Gly1853=)
c.5486G= (p.Gly1829=)
c.5348G= (p.Gly1783=)
c.3434G= (p.Gly1145=)
16g.2109729C>GCA394377057PKD1c.5438G>C (p.Gly1813Ala)
n.310+2611G>C
n.431-379G>C
c.233+2087G>C
n.790+2611G>C
c.125G>C (p.Gly42Ala)
c.473-1371G>C
n.773+2611G>C
c.2226+2611G>C (n.2226+2611G>C)
n.421+2611G>C
c.2393G>C (p.Gly798Ala)
c.5516G>C (p.Gly1839Ala)
c.5492G>C (p.Gly1831Ala)
c.5462G>C (p.Gly1821Ala)
c.5444G>C (p.Gly1815Ala)
c.5390G>C (p.Gly1797Ala)
c.5309G>C (p.Gly1770Ala)
c.5252G>C (p.Gly1751Ala)
c.3338G>C (p.Gly1113Ala)
c.2516G>C (p.Gly839Ala)
n.5531G>C
c.5558G>C (p.Gly1853Ala)
c.5486G>C (p.Gly1829Ala)
c.5348G>C (p.Gly1783Ala)
c.3434G>C (p.Gly1145Ala)
 dbSNP gnomAD v2 gnomAD v4
16g.2109729C>TCA394377055PKD1c.5438G>A (p.Gly1813Glu)
n.310+2611G>A
n.431-379G>A
c.233+2087G>A
n.790+2611G>A
c.125G>A (p.Gly42Glu)
c.473-1371G>A
n.773+2611G>A
c.2226+2611G>A (n.2226+2611G>A)
n.421+2611G>A
c.2393G>A (p.Gly798Glu)
c.5516G>A (p.Gly1839Glu)
c.5492G>A (p.Gly1831Glu)
c.5462G>A (p.Gly1821Glu)
c.5444G>A (p.Gly1815Glu)
c.5390G>A (p.Gly1797Glu)
c.5309G>A (p.Gly1770Glu)
c.5252G>A (p.Gly1751Glu)
c.3338G>A (p.Gly1113Glu)
c.2516G>A (p.Gly839Glu)
n.5531G>A
c.5558G>A (p.Gly1853Glu)
c.5486G>A (p.Gly1829Glu)
c.5348G>A (p.Gly1783Glu)
c.3434G>A (p.Gly1145Glu)
16g.2109730delCA2695222280PKD1c.5438del (p.Gly1813GlufsTer23)
n.310+2611del
n.431-379del
c.233+2087del
n.790+2611del
c.125del (p.Gly42GlufsTer23)
c.473-1371del
n.773+2611del
c.2226+2611del (n.2226+2611del)
n.421+2611del
c.2393del (p.Gly798GlufsTer23)
c.5516del (p.Gly1839GlufsTer23)
c.5492del (p.Gly1831GlufsTer23)
c.5462del (p.Gly1821GlufsTer23)
c.5444del (p.Gly1815GlufsTer23)
c.5390del (p.Gly1797GlufsTer23)
c.5309del (p.Gly1770GlufsTer23)
c.5252del (p.Gly1751GlufsTer23)
c.3338del (p.Gly1113GlufsTer23)
c.2516del (p.Gly839GlufsTer23)
n.5531del
c.5558del (p.Gly1853GlufsTer23)
c.5486del (p.Gly1829GlufsTer23)
c.5348del (p.Gly1783GlufsTer23)
c.3434del (p.Gly1145GlufsTer23)
16g.2109730C>ACA394377061PKD1c.5437G>T (p.Gly1813Ter)
n.310+2610G>T
n.431-380G>T
c.233+2086G>T
n.790+2610G>T
c.124G>T (p.Gly42Ter)
c.473-1372G>T
n.773+2610G>T
c.2226+2610G>T (n.2226+2610G>T)
n.421+2610G>T
c.2392G>T (p.Gly798Ter)
c.5515G>T (p.Gly1839Ter)
c.5491G>T (p.Gly1831Ter)
c.5461G>T (p.Gly1821Ter)
c.5443G>T (p.Gly1815Ter)
c.5389G>T (p.Gly1797Ter)
c.5308G>T (p.Gly1770Ter)
c.5251G>T (p.Gly1751Ter)
c.3337G>T (p.Gly1113Ter)
c.2515G>T (p.Gly839Ter)
n.5530G>T
c.5557G>T (p.Gly1853Ter)
c.5485G>T (p.Gly1829Ter)
c.5347G>T (p.Gly1783Ter)
c.3433G>T (p.Gly1145Ter)
16g.2109730C=CA2202046462PKD1c.5437G= (p.Gly1813=)
n.310+2610G=
n.431-380G=
c.233+2086G=
n.790+2610G=
c.124G= (p.Gly42=)
c.473-1372G=
n.773+2610G=
c.2226+2610G= (n.2226+2610G=)
n.421+2610G=
c.2392G= (p.Gly798=)
c.5515G= (p.Gly1839=)
c.5491G= (p.Gly1831=)
c.5461G= (p.Gly1821=)
c.5443G= (p.Gly1815=)
c.5389G= (p.Gly1797=)
c.5308G= (p.Gly1770=)
c.5251G= (p.Gly1751=)
c.3337G= (p.Gly1113=)
c.2515G= (p.Gly839=)
n.5530G=
c.5557G= (p.Gly1853=)
c.5485G= (p.Gly1829=)
c.5347G= (p.Gly1783=)
c.3433G= (p.Gly1145=)
16g.2109730C>GCA394377059PKD1c.5437G>C (p.Gly1813Arg)
n.310+2610G>C
n.431-380G>C
c.233+2086G>C
n.790+2610G>C
c.124G>C (p.Gly42Arg)
c.473-1372G>C
n.773+2610G>C
c.2226+2610G>C (n.2226+2610G>C)
n.421+2610G>C
c.2392G>C (p.Gly798Arg)
c.5515G>C (p.Gly1839Arg)
c.5491G>C (p.Gly1831Arg)
c.5461G>C (p.Gly1821Arg)
c.5443G>C (p.Gly1815Arg)
c.5389G>C (p.Gly1797Arg)
c.5308G>C (p.Gly1770Arg)
c.5251G>C (p.Gly1751Arg)
c.3337G>C (p.Gly1113Arg)
c.2515G>C (p.Gly839Arg)
n.5530G>C
c.5557G>C (p.Gly1853Arg)
c.5485G>C (p.Gly1829Arg)
c.5347G>C (p.Gly1783Arg)
c.3433G>C (p.Gly1145Arg)
16g.2109730C>TCA7831983PKD1c.5437G>A (p.Gly1813Arg)
n.310+2610G>A
n.431-380G>A
c.233+2086G>A
n.790+2610G>A
c.124G>A (p.Gly42Arg)
c.473-1372G>A
n.773+2610G>A
c.2226+2610G>A (n.2226+2610G>A)
n.421+2610G>A
c.2392G>A (p.Gly798Arg)
c.5515G>A (p.Gly1839Arg)
c.5491G>A (p.Gly1831Arg)
c.5461G>A (p.Gly1821Arg)
c.5443G>A (p.Gly1815Arg)
c.5389G>A (p.Gly1797Arg)
c.5308G>A (p.Gly1770Arg)
c.5251G>A (p.Gly1751Arg)
c.3337G>A (p.Gly1113Arg)
c.2515G>A (p.Gly839Arg)
n.5530G>A
c.5557G>A (p.Gly1853Arg)
c.5485G>A (p.Gly1829Arg)
c.5347G>A (p.Gly1783Arg)
c.3433G>A (p.Gly1145Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2109731G>ACA7831985PKD1c.5436C>T (p.Pro1812=)
n.310+2609C>T
n.431-381C>T
c.233+2085C>T
n.790+2609C>T
c.123C>T (p.Pro41=)
c.473-1373C>T
n.773+2609C>T
c.2226+2609C>T (n.2226+2609C>T)
n.421+2609C>T
c.2391C>T (p.Pro797=)
c.5514C>T (p.Pro1838=)
c.5490C>T (p.Pro1830=)
c.5460C>T (p.Pro1820=)
c.5442C>T (p.Pro1814=)
c.5388C>T (p.Pro1796=)
c.5307C>T (p.Pro1769=)
c.5250C>T (p.Pro1750=)
c.3336C>T (p.Pro1112=)
c.2514C>T (p.Pro838=)
n.5529C>T
c.5556C>T (p.Pro1852=)
c.5484C>T (p.Pro1828=)
c.5346C>T (p.Pro1782=)
c.3432C>T (p.Pro1144=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2109731G>CCA7831984PKD1c.5436C>G (p.Pro1812=)
n.310+2609C>G
n.431-381C>G
c.233+2085C>G
n.790+2609C>G
c.123C>G (p.Pro41=)
c.473-1373C>G
n.773+2609C>G
c.2226+2609C>G (n.2226+2609C>G)
n.421+2609C>G
c.2391C>G (p.Pro797=)
c.5514C>G (p.Pro1838=)
c.5490C>G (p.Pro1830=)
c.5460C>G (p.Pro1820=)
c.5442C>G (p.Pro1814=)
c.5388C>G (p.Pro1796=)
c.5307C>G (p.Pro1769=)
c.5250C>G (p.Pro1750=)
c.3336C>G (p.Pro1112=)
c.2514C>G (p.Pro838=)
n.5529C>G
c.5556C>G (p.Pro1852=)
c.5484C>G (p.Pro1828=)
c.5346C>G (p.Pro1782=)
c.3432C>G (p.Pro1144=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2109731G=CA2202046463PKD1c.5436C= (p.Pro1812=)
n.310+2609C=
n.431-381C=
c.233+2085C=
n.790+2609C=
c.123C= (p.Pro41=)
c.473-1373C=
n.773+2609C=
c.2226+2609C= (n.2226+2609C=)
n.421+2609C=
c.2391C= (p.Pro797=)
c.5514C= (p.Pro1838=)
c.5490C= (p.Pro1830=)
c.5460C= (p.Pro1820=)
c.5442C= (p.Pro1814=)
c.5388C= (p.Pro1796=)
c.5307C= (p.Pro1769=)
c.5250C= (p.Pro1750=)
c.3336C= (p.Pro1112=)
c.2514C= (p.Pro838=)
n.5529C=
c.5556C= (p.Pro1852=)
c.5484C= (p.Pro1828=)
c.5346C= (p.Pro1782=)
c.3432C= (p.Pro1144=)
16g.2109731G>TCA493047586PKD1c.5436C>A (p.Pro1812=)
n.310+2609C>A
n.431-381C>A
c.233+2085C>A
n.790+2609C>A
c.123C>A (p.Pro41=)
c.473-1373C>A
n.773+2609C>A
c.2226+2609C>A (n.2226+2609C>A)
n.421+2609C>A
c.2391C>A (p.Pro797=)
c.5514C>A (p.Pro1838=)
c.5490C>A (p.Pro1830=)
c.5460C>A (p.Pro1820=)
c.5442C>A (p.Pro1814=)
c.5388C>A (p.Pro1796=)
c.5307C>A (p.Pro1769=)
c.5250C>A (p.Pro1750=)
c.3336C>A (p.Pro1112=)
c.2514C>A (p.Pro838=)
n.5529C>A
c.5556C>A (p.Pro1852=)
c.5484C>A (p.Pro1828=)
c.5346C>A (p.Pro1782=)
c.3432C>A (p.Pro1144=)
 dbSNP gnomAD v4
16g.2109733delCA2695222282PKD1c.5436del (p.Gly1813GlufsTer23)
n.310+2609del
n.431-381del
c.233+2085del
n.790+2609del
c.123del (p.Gly42GlufsTer23)
c.473-1373del
n.773+2609del
c.2226+2609del (n.2226+2609del)
n.421+2609del
c.2391del (p.Gly798GlufsTer23)
c.5514del (p.Gly1839GlufsTer23)
c.5490del (p.Gly1831GlufsTer23)
c.5460del (p.Gly1821GlufsTer23)
c.5442del (p.Gly1815GlufsTer23)
c.5388del (p.Gly1797GlufsTer23)
c.5307del (p.Gly1770GlufsTer23)
c.5250del (p.Gly1751GlufsTer23)
c.3336del (p.Gly1113GlufsTer23)
c.2514del (p.Gly839GlufsTer23)
n.5529del
c.5556del (p.Gly1853GlufsTer23)
c.5484del (p.Gly1829GlufsTer23)
c.5346del (p.Gly1783GlufsTer23)
c.3432del (p.Gly1145GlufsTer23)
16g.2109732G>ACA394377064PKD1c.5435C>T (p.Pro1812Leu)
n.310+2608C>T
n.431-382C>T
c.233+2084C>T
n.790+2608C>T
c.122C>T (p.Pro41Leu)
c.473-1374C>T
n.773+2608C>T
c.2226+2608C>T (n.2226+2608C>T)
n.421+2608C>T
c.2390C>T (p.Pro797Leu)
c.5513C>T (p.Pro1838Leu)
c.5489C>T (p.Pro1830Leu)
c.5459C>T (p.Pro1820Leu)
c.5441C>T (p.Pro1814Leu)
c.5387C>T (p.Pro1796Leu)
c.5306C>T (p.Pro1769Leu)
c.5249C>T (p.Pro1750Leu)
c.3335C>T (p.Pro1112Leu)
c.2513C>T (p.Pro838Leu)
n.5528C>T
c.5555C>T (p.Pro1852Leu)
c.5483C>T (p.Pro1828Leu)
c.5345C>T (p.Pro1782Leu)
c.3431C>T (p.Pro1144Leu)
 dbSNP gnomAD v4
16g.2109732G>CCA394377066PKD1c.5435C>G (p.Pro1812Arg)
n.310+2608C>G
n.431-382C>G
c.233+2084C>G
n.790+2608C>G
c.122C>G (p.Pro41Arg)
c.473-1374C>G
n.773+2608C>G
c.2226+2608C>G (n.2226+2608C>G)
n.421+2608C>G
c.2390C>G (p.Pro797Arg)
c.5513C>G (p.Pro1838Arg)
c.5489C>G (p.Pro1830Arg)
c.5459C>G (p.Pro1820Arg)
c.5441C>G (p.Pro1814Arg)
c.5387C>G (p.Pro1796Arg)
c.5306C>G (p.Pro1769Arg)
c.5249C>G (p.Pro1750Arg)
c.3335C>G (p.Pro1112Arg)
c.2513C>G (p.Pro838Arg)
n.5528C>G
c.5555C>G (p.Pro1852Arg)
c.5483C>G (p.Pro1828Arg)
c.5345C>G (p.Pro1782Arg)
c.3431C>G (p.Pro1144Arg)
16g.2109732G=CA2202046464PKD1c.5435C= (p.Pro1812=)
n.310+2608C=
n.431-382C=
c.233+2084C=
n.790+2608C=
c.122C= (p.Pro41=)
c.473-1374C=
n.773+2608C=
c.2226+2608C= (n.2226+2608C=)
n.421+2608C=
c.2390C= (p.Pro797=)
c.5513C= (p.Pro1838=)
c.5489C= (p.Pro1830=)
c.5459C= (p.Pro1820=)
c.5441C= (p.Pro1814=)
c.5387C= (p.Pro1796=)
c.5306C= (p.Pro1769=)
c.5249C= (p.Pro1750=)
c.3335C= (p.Pro1112=)
c.2513C= (p.Pro838=)
n.5528C=
c.5555C= (p.Pro1852=)
c.5483C= (p.Pro1828=)
c.5345C= (p.Pro1782=)
c.3431C= (p.Pro1144=)
16g.2109732G>TCA394377067PKD1c.5435C>A (p.Pro1812His)
n.310+2608C>A
n.431-382C>A
c.233+2084C>A
n.790+2608C>A
c.122C>A (p.Pro41His)
c.473-1374C>A
n.773+2608C>A
c.2226+2608C>A (n.2226+2608C>A)
n.421+2608C>A
c.2390C>A (p.Pro797His)
c.5513C>A (p.Pro1838His)
c.5489C>A (p.Pro1830His)
c.5459C>A (p.Pro1820His)
c.5441C>A (p.Pro1814His)
c.5387C>A (p.Pro1796His)
c.5306C>A (p.Pro1769His)
c.5249C>A (p.Pro1750His)
c.3335C>A (p.Pro1112His)
c.2513C>A (p.Pro838His)
n.5528C>A
c.5555C>A (p.Pro1852His)
c.5483C>A (p.Pro1828His)
c.5345C>A (p.Pro1782His)
c.3431C>A (p.Pro1144His)
16g.2109733G>ACA7831986PKD1c.5434C>T (p.Pro1812Ser)
n.310+2607C>T
n.431-383C>T
c.233+2083C>T
n.790+2607C>T
c.121C>T (p.Pro41Ser)
c.473-1375C>T
n.773+2607C>T
c.2226+2607C>T (n.2226+2607C>T)
n.421+2607C>T
c.2389C>T (p.Pro797Ser)
c.5512C>T (p.Pro1838Ser)
c.5488C>T (p.Pro1830Ser)
c.5458C>T (p.Pro1820Ser)
c.5440C>T (p.Pro1814Ser)
c.5386C>T (p.Pro1796Ser)
c.5305C>T (p.Pro1769Ser)
c.5248C>T (p.Pro1750Ser)
c.3334C>T (p.Pro1112Ser)
c.2512C>T (p.Pro838Ser)
n.5527C>T
c.5554C>T (p.Pro1852Ser)
c.5482C>T (p.Pro1828Ser)
c.5344C>T (p.Pro1782Ser)
c.3430C>T (p.Pro1144Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2109733G>CCA394377071PKD1c.5434C>G (p.Pro1812Ala)
n.310+2607C>G
n.431-383C>G
c.233+2083C>G
n.790+2607C>G
c.121C>G (p.Pro41Ala)
c.473-1375C>G
n.773+2607C>G
c.2226+2607C>G (n.2226+2607C>G)
n.421+2607C>G
c.2389C>G (p.Pro797Ala)
c.5512C>G (p.Pro1838Ala)
c.5488C>G (p.Pro1830Ala)
c.5458C>G (p.Pro1820Ala)
c.5440C>G (p.Pro1814Ala)
c.5386C>G (p.Pro1796Ala)
c.5305C>G (p.Pro1769Ala)
c.5248C>G (p.Pro1750Ala)
c.3334C>G (p.Pro1112Ala)
c.2512C>G (p.Pro838Ala)
n.5527C>G
c.5554C>G (p.Pro1852Ala)
c.5482C>G (p.Pro1828Ala)
c.5344C>G (p.Pro1782Ala)
c.3430C>G (p.Pro1144Ala)
16g.2109733G=CA2202046465PKD1c.5434C= (p.Pro1812=)
n.310+2607C=
n.431-383C=
c.233+2083C=
n.790+2607C=
c.121C= (p.Pro41=)
c.473-1375C=
n.773+2607C=
c.2226+2607C= (n.2226+2607C=)
n.421+2607C=
c.2389C= (p.Pro797=)
c.5512C= (p.Pro1838=)
c.5488C= (p.Pro1830=)
c.5458C= (p.Pro1820=)
c.5440C= (p.Pro1814=)
c.5386C= (p.Pro1796=)
c.5305C= (p.Pro1769=)
c.5248C= (p.Pro1750=)
c.3334C= (p.Pro1112=)
c.2512C= (p.Pro838=)
n.5527C=
c.5554C= (p.Pro1852=)
c.5482C= (p.Pro1828=)
c.5344C= (p.Pro1782=)
c.3430C= (p.Pro1144=)
16g.2109733G>TCA394377073PKD1c.5434C>A (p.Pro1812Thr)
n.310+2607C>A
n.431-383C>A
c.233+2083C>A
n.790+2607C>A
c.121C>A (p.Pro41Thr)
c.473-1375C>A
n.773+2607C>A
c.2226+2607C>A (n.2226+2607C>A)
n.421+2607C>A
c.2389C>A (p.Pro797Thr)
c.5512C>A (p.Pro1838Thr)
c.5488C>A (p.Pro1830Thr)
c.5458C>A (p.Pro1820Thr)
c.5440C>A (p.Pro1814Thr)
c.5386C>A (p.Pro1796Thr)
c.5305C>A (p.Pro1769Thr)
c.5248C>A (p.Pro1750Thr)
c.3334C>A (p.Pro1112Thr)
c.2512C>A (p.Pro838Thr)
n.5527C>A
c.5554C>A (p.Pro1852Thr)
c.5482C>A (p.Pro1828Thr)
c.5344C>A (p.Pro1782Thr)
c.3430C>A (p.Pro1144Thr)
16g.2109734C>ACA7831987PKD1c.5433G>T (p.Glu1811Asp)
n.310+2606G>T
n.431-384G>T
c.233+2082G>T
n.790+2606G>T
c.120G>T (p.Glu40Asp)
c.473-1376G>T
n.773+2606G>T
c.2226+2606G>T (n.2226+2606G>T)
n.421+2606G>T
c.2388G>T (p.Glu796Asp)
c.5511G>T (p.Glu1837Asp)
c.5487G>T (p.Glu1829Asp)
c.5457G>T (p.Glu1819Asp)
c.5439G>T (p.Glu1813Asp)
c.5385G>T (p.Glu1795Asp)
c.5304G>T (p.Glu1768Asp)
c.5247G>T (p.Glu1749Asp)
c.3333G>T (p.Glu1111Asp)
c.2511G>T (p.Glu837Asp)
n.5526G>T
c.5553G>T (p.Glu1851Asp)
c.5481G>T (p.Glu1827Asp)
c.5343G>T (p.Glu1781Asp)
c.3429G>T (p.Glu1143Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2109734C=CA2202046466PKD1c.5433G= (p.Glu1811=)
n.310+2606G=
n.431-384G=
c.233+2082G=
n.790+2606G=
c.120G= (p.Glu40=)
c.473-1376G=
n.773+2606G=
c.2226+2606G= (n.2226+2606G=)
n.421+2606G=
c.2388G= (p.Glu796=)
c.5511G= (p.Glu1837=)
c.5487G= (p.Glu1829=)
c.5457G= (p.Glu1819=)
c.5439G= (p.Glu1813=)
c.5385G= (p.Glu1795=)
c.5304G= (p.Glu1768=)
c.5247G= (p.Glu1749=)
c.3333G= (p.Glu1111=)
c.2511G= (p.Glu837=)
n.5526G=
c.5553G= (p.Glu1851=)
c.5481G= (p.Glu1827=)
c.5343G= (p.Glu1781=)
c.3429G= (p.Glu1143=)
16g.2109734C>GCA394377075PKD1c.5433G>C (p.Glu1811Asp)
n.310+2606G>C
n.431-384G>C
c.233+2082G>C
n.790+2606G>C
c.120G>C (p.Glu40Asp)
c.473-1376G>C
n.773+2606G>C
c.2226+2606G>C (n.2226+2606G>C)
n.421+2606G>C
c.2388G>C (p.Glu796Asp)
c.5511G>C (p.Glu1837Asp)
c.5487G>C (p.Glu1829Asp)
c.5457G>C (p.Glu1819Asp)
c.5439G>C (p.Glu1813Asp)
c.5385G>C (p.Glu1795Asp)
c.5304G>C (p.Glu1768Asp)
c.5247G>C (p.Glu1749Asp)
c.3333G>C (p.Glu1111Asp)
c.2511G>C (p.Glu837Asp)
n.5526G>C
c.5553G>C (p.Glu1851Asp)
c.5481G>C (p.Glu1827Asp)
c.5343G>C (p.Glu1781Asp)
c.3429G>C (p.Glu1143Asp)
16g.2109734C>TCA493047592PKD1c.5433G>A (p.Glu1811=)
n.310+2606G>A
n.431-384G>A
c.233+2082G>A
n.790+2606G>A
c.120G>A (p.Glu40=)
c.473-1376G>A
n.773+2606G>A
c.2226+2606G>A (n.2226+2606G>A)
n.421+2606G>A
c.2388G>A (p.Glu796=)
c.5511G>A (p.Glu1837=)
c.5487G>A (p.Glu1829=)
c.5457G>A (p.Glu1819=)
c.5439G>A (p.Glu1813=)
c.5385G>A (p.Glu1795=)
c.5304G>A (p.Glu1768=)
c.5247G>A (p.Glu1749=)
c.3333G>A (p.Glu1111=)
c.2511G>A (p.Glu837=)
n.5526G>A
c.5553G>A (p.Glu1851=)
c.5481G>A (p.Glu1827=)
c.5343G>A (p.Glu1781=)
c.3429G>A (p.Glu1143=)
 dbSNP gnomAD v4
16g.2109735T>ACA394377080PKD1c.5432A>T (p.Glu1811Val)
n.310+2605A>T
n.431-385A>T
c.233+2081A>T
n.790+2605A>T
c.119A>T (p.Glu40Val)
c.473-1377A>T
n.773+2605A>T
c.2226+2605A>T (n.2226+2605A>T)
n.421+2605A>T
c.2387A>T (p.Glu796Val)
c.5510A>T (p.Glu1837Val)
c.5486A>T (p.Glu1829Val)
c.5456A>T (p.Glu1819Val)
c.5438A>T (p.Glu1813Val)
c.5384A>T (p.Glu1795Val)
c.5303A>T (p.Glu1768Val)
c.5246A>T (p.Glu1749Val)
c.3332A>T (p.Glu1111Val)
c.2510A>T (p.Glu837Val)
n.5525A>T
c.5552A>T (p.Glu1851Val)
c.5480A>T (p.Glu1827Val)
c.5342A>T (p.Glu1781Val)
c.3428A>T (p.Glu1143Val)
16g.2109735T>CCA394377081PKD1c.5432A>G (p.Glu1811Gly)
n.310+2605A>G
n.431-385A>G
c.233+2081A>G
n.790+2605A>G
c.119A>G (p.Glu40Gly)
c.473-1377A>G
n.773+2605A>G
c.2226+2605A>G (n.2226+2605A>G)
n.421+2605A>G
c.2387A>G (p.Glu796Gly)
c.5510A>G (p.Glu1837Gly)
c.5486A>G (p.Glu1829Gly)
c.5456A>G (p.Glu1819Gly)
c.5438A>G (p.Glu1813Gly)
c.5384A>G (p.Glu1795Gly)
c.5303A>G (p.Glu1768Gly)
c.5246A>G (p.Glu1749Gly)
c.3332A>G (p.Glu1111Gly)
c.2510A>G (p.Glu837Gly)
n.5525A>G
c.5552A>G (p.Glu1851Gly)
c.5480A>G (p.Glu1827Gly)
c.5342A>G (p.Glu1781Gly)
c.3428A>G (p.Glu1143Gly)
16g.2109735T>GCA394377078PKD1c.5432A>C (p.Glu1811Ala)
n.310+2605A>C
n.431-385A>C
c.233+2081A>C
n.790+2605A>C
c.119A>C (p.Glu40Ala)
c.473-1377A>C
n.773+2605A>C
c.2226+2605A>C (n.2226+2605A>C)
n.421+2605A>C
c.2387A>C (p.Glu796Ala)
c.5510A>C (p.Glu1837Ala)
c.5486A>C (p.Glu1829Ala)
c.5456A>C (p.Glu1819Ala)
c.5438A>C (p.Glu1813Ala)
c.5384A>C (p.Glu1795Ala)
c.5303A>C (p.Glu1768Ala)
c.5246A>C (p.Glu1749Ala)
c.3332A>C (p.Glu1111Ala)
c.2510A>C (p.Glu837Ala)
n.5525A>C
c.5552A>C (p.Glu1851Ala)
c.5480A>C (p.Glu1827Ala)
c.5342A>C (p.Glu1781Ala)
c.3428A>C (p.Glu1143Ala)

Number of alleles fetched