UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2109623A>C | CA493047938 | PKD1 | c.5544T>G (p.Arg1848=) n.311-2675T>G n.431-273T>G c.233+2193T>G n.791-2675T>G c.231T>G (p.Arg77=) c.473-1265T>G n.774-2675T>G c.2227-2675T>G (n.2227-2675T>G) n.422-2675T>G c.2499T>G (p.Arg833=) c.5622T>G (p.Arg1874=) c.5598T>G (p.Arg1866=) c.5568T>G (p.Arg1856=) c.5550T>G (p.Arg1850=) c.5496T>G (p.Arg1832=) c.5415T>G (p.Arg1805=) c.5358T>G (p.Arg1786=) c.3444T>G (p.Arg1148=) c.2622T>G (p.Arg874=) n.5637T>G c.5664T>G (p.Arg1888=) c.5592T>G (p.Arg1864=) c.5454T>G (p.Arg1818=) c.3540T>G (p.Arg1180=) | |
| 16 | g.2109623A>G | CA493047936 | PKD1 | c.5544T>C (p.Arg1848=) n.311-2675T>C n.431-273T>C c.233+2193T>C n.791-2675T>C c.231T>C (p.Arg77=) c.473-1265T>C n.774-2675T>C c.2227-2675T>C (n.2227-2675T>C) n.422-2675T>C c.2499T>C (p.Arg833=) c.5622T>C (p.Arg1874=) c.5598T>C (p.Arg1866=) c.5568T>C (p.Arg1856=) c.5550T>C (p.Arg1850=) c.5496T>C (p.Arg1832=) c.5415T>C (p.Arg1805=) c.5358T>C (p.Arg1786=) c.3444T>C (p.Arg1148=) c.2622T>C (p.Arg874=) n.5637T>C c.5664T>C (p.Arg1888=) c.5592T>C (p.Arg1864=) c.5454T>C (p.Arg1818=) c.3540T>C (p.Arg1180=) | |
| 16 | g.2109623A>T | CA493047937 | PKD1 | c.5544T>A (p.Arg1848=) n.311-2675T>A n.431-273T>A c.233+2193T>A n.791-2675T>A c.231T>A (p.Arg77=) c.473-1265T>A n.774-2675T>A c.2227-2675T>A (n.2227-2675T>A) n.422-2675T>A c.2499T>A (p.Arg833=) c.5622T>A (p.Arg1874=) c.5598T>A (p.Arg1866=) c.5568T>A (p.Arg1856=) c.5550T>A (p.Arg1850=) c.5496T>A (p.Arg1832=) c.5415T>A (p.Arg1805=) c.5358T>A (p.Arg1786=) c.3444T>A (p.Arg1148=) c.2622T>A (p.Arg874=) n.5637T>A c.5664T>A (p.Arg1888=) c.5592T>A (p.Arg1864=) c.5454T>A (p.Arg1818=) c.3540T>A (p.Arg1180=) | |
| 16 | g.2109624C>A | CA394376415 | PKD1 | c.5543G>T (p.Arg1848Leu) n.311-2676G>T n.431-274G>T c.233+2192G>T n.791-2676G>T c.230G>T (p.Arg77Leu) c.473-1266G>T n.774-2676G>T c.2227-2676G>T (n.2227-2676G>T) n.422-2676G>T c.2498G>T (p.Arg833Leu) c.5621G>T (p.Arg1874Leu) c.5597G>T (p.Arg1866Leu) c.5567G>T (p.Arg1856Leu) c.5549G>T (p.Arg1850Leu) c.5495G>T (p.Arg1832Leu) c.5414G>T (p.Arg1805Leu) c.5357G>T (p.Arg1786Leu) c.3443G>T (p.Arg1148Leu) c.2621G>T (p.Arg874Leu) n.5636G>T c.5663G>T (p.Arg1888Leu) c.5591G>T (p.Arg1864Leu) c.5453G>T (p.Arg1818Leu) c.3539G>T (p.Arg1180Leu) | |
| 16 | g.2109624C= | CA2202046399 | PKD1 | c.5543G= (p.Arg1848=) n.311-2676G= n.431-274G= c.233+2192G= n.791-2676G= c.230G= (p.Arg77=) c.473-1266G= n.774-2676G= c.2227-2676G= (n.2227-2676G=) n.422-2676G= c.2498G= (p.Arg833=) c.5621G= (p.Arg1874=) c.5597G= (p.Arg1866=) c.5567G= (p.Arg1856=) c.5549G= (p.Arg1850=) c.5495G= (p.Arg1832=) c.5414G= (p.Arg1805=) c.5357G= (p.Arg1786=) c.3443G= (p.Arg1148=) c.2621G= (p.Arg874=) n.5636G= c.5663G= (p.Arg1888=) c.5591G= (p.Arg1864=) c.5453G= (p.Arg1818=) c.3539G= (p.Arg1180=) | |
| 16 | g.2109624C>G | CA394376417 | PKD1 | c.5543G>C (p.Arg1848Pro) n.311-2676G>C n.431-274G>C c.233+2192G>C n.791-2676G>C c.230G>C (p.Arg77Pro) c.473-1266G>C n.774-2676G>C c.2227-2676G>C (n.2227-2676G>C) n.422-2676G>C c.2498G>C (p.Arg833Pro) c.5621G>C (p.Arg1874Pro) c.5597G>C (p.Arg1866Pro) c.5567G>C (p.Arg1856Pro) c.5549G>C (p.Arg1850Pro) c.5495G>C (p.Arg1832Pro) c.5414G>C (p.Arg1805Pro) c.5357G>C (p.Arg1786Pro) c.3443G>C (p.Arg1148Pro) c.2621G>C (p.Arg874Pro) n.5636G>C c.5663G>C (p.Arg1888Pro) c.5591G>C (p.Arg1864Pro) c.5453G>C (p.Arg1818Pro) c.3539G>C (p.Arg1180Pro) | gnomAD v4 |
| 16 | g.2109624C>T | CA7831949 | PKD1 | c.5543G>A (p.Arg1848His) n.311-2676G>A n.431-274G>A c.233+2192G>A n.791-2676G>A c.230G>A (p.Arg77His) c.473-1266G>A n.774-2676G>A c.2227-2676G>A (n.2227-2676G>A) n.422-2676G>A c.2498G>A (p.Arg833His) c.5621G>A (p.Arg1874His) c.5597G>A (p.Arg1866His) c.5567G>A (p.Arg1856His) c.5549G>A (p.Arg1850His) c.5495G>A (p.Arg1832His) c.5414G>A (p.Arg1805His) c.5357G>A (p.Arg1786His) c.3443G>A (p.Arg1148His) c.2621G>A (p.Arg874His) n.5636G>A c.5663G>A (p.Arg1888His) c.5591G>A (p.Arg1864His) c.5453G>A (p.Arg1818His) c.3539G>A (p.Arg1180His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2109625G>A | CA7831950 | PKD1 | c.5542C>T (p.Arg1848Cys) n.311-2677C>T n.431-275C>T c.233+2191C>T n.791-2677C>T c.229C>T (p.Arg77Cys) c.473-1267C>T n.774-2677C>T c.2227-2677C>T (n.2227-2677C>T) n.422-2677C>T c.2497C>T (p.Arg833Cys) c.5620C>T (p.Arg1874Cys) c.5596C>T (p.Arg1866Cys) c.5566C>T (p.Arg1856Cys) c.5548C>T (p.Arg1850Cys) c.5494C>T (p.Arg1832Cys) c.5413C>T (p.Arg1805Cys) c.5356C>T (p.Arg1786Cys) c.3442C>T (p.Arg1148Cys) c.2620C>T (p.Arg874Cys) n.5635C>T c.5662C>T (p.Arg1888Cys) c.5590C>T (p.Arg1864Cys) c.5452C>T (p.Arg1818Cys) c.3538C>T (p.Arg1180Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2109625G>C | CA394376420 | PKD1 | c.5542C>G (p.Arg1848Gly) n.311-2677C>G n.431-275C>G c.233+2191C>G n.791-2677C>G c.229C>G (p.Arg77Gly) c.473-1267C>G n.774-2677C>G c.2227-2677C>G (n.2227-2677C>G) n.422-2677C>G c.2497C>G (p.Arg833Gly) c.5620C>G (p.Arg1874Gly) c.5596C>G (p.Arg1866Gly) c.5566C>G (p.Arg1856Gly) c.5548C>G (p.Arg1850Gly) c.5494C>G (p.Arg1832Gly) c.5413C>G (p.Arg1805Gly) c.5356C>G (p.Arg1786Gly) c.3442C>G (p.Arg1148Gly) c.2620C>G (p.Arg874Gly) n.5635C>G c.5662C>G (p.Arg1888Gly) c.5590C>G (p.Arg1864Gly) c.5452C>G (p.Arg1818Gly) c.3538C>G (p.Arg1180Gly) | |
| 16 | g.2109625G= | CA2202046400 | PKD1 | c.5542C= (p.Arg1848=) n.311-2677C= n.431-275C= c.233+2191C= n.791-2677C= c.229C= (p.Arg77=) c.473-1267C= n.774-2677C= c.2227-2677C= (n.2227-2677C=) n.422-2677C= c.2497C= (p.Arg833=) c.5620C= (p.Arg1874=) c.5596C= (p.Arg1866=) c.5566C= (p.Arg1856=) c.5548C= (p.Arg1850=) c.5494C= (p.Arg1832=) c.5413C= (p.Arg1805=) c.5356C= (p.Arg1786=) c.3442C= (p.Arg1148=) c.2620C= (p.Arg874=) n.5635C= c.5662C= (p.Arg1888=) c.5590C= (p.Arg1864=) c.5452C= (p.Arg1818=) c.3538C= (p.Arg1180=) | |
| 16 | g.2109625G>T | CA394376422 | PKD1 | c.5542C>A (p.Arg1848Ser) n.311-2677C>A n.431-275C>A c.233+2191C>A n.791-2677C>A c.229C>A (p.Arg77Ser) c.473-1267C>A n.774-2677C>A c.2227-2677C>A (n.2227-2677C>A) n.422-2677C>A c.2497C>A (p.Arg833Ser) c.5620C>A (p.Arg1874Ser) c.5596C>A (p.Arg1866Ser) c.5566C>A (p.Arg1856Ser) c.5548C>A (p.Arg1850Ser) c.5494C>A (p.Arg1832Ser) c.5413C>A (p.Arg1805Ser) c.5356C>A (p.Arg1786Ser) c.3442C>A (p.Arg1148Ser) c.2620C>A (p.Arg874Ser) n.5635C>A c.5662C>A (p.Arg1888Ser) c.5590C>A (p.Arg1864Ser) c.5452C>A (p.Arg1818Ser) c.3538C>A (p.Arg1180Ser) | gnomAD v4 |
| 16 | g.2109626C>A | CA394376424 | PKD1 | c.5541G>T (p.Lys1847Asn) n.311-2678G>T n.431-276G>T c.233+2190G>T n.791-2678G>T c.228G>T (p.Lys76Asn) c.473-1268G>T n.774-2678G>T c.2227-2678G>T (n.2227-2678G>T) n.422-2678G>T c.2496G>T (p.Lys832Asn) c.5619G>T (p.Lys1873Asn) c.5595G>T (p.Lys1865Asn) c.5565G>T (p.Lys1855Asn) c.5547G>T (p.Lys1849Asn) c.5493G>T (p.Lys1831Asn) c.5412G>T (p.Lys1804Asn) c.5355G>T (p.Lys1785Asn) c.3441G>T (p.Lys1147Asn) c.2619G>T (p.Lys873Asn) n.5634G>T c.5661G>T (p.Lys1887Asn) c.5589G>T (p.Lys1863Asn) c.5451G>T (p.Lys1817Asn) c.3537G>T (p.Lys1179Asn) | |
| 16 | g.2109626C>G | CA394376426 | PKD1 | c.5541G>C (p.Lys1847Asn) n.311-2678G>C n.431-276G>C c.233+2190G>C n.791-2678G>C c.228G>C (p.Lys76Asn) c.473-1268G>C n.774-2678G>C c.2227-2678G>C (n.2227-2678G>C) n.422-2678G>C c.2496G>C (p.Lys832Asn) c.5619G>C (p.Lys1873Asn) c.5595G>C (p.Lys1865Asn) c.5565G>C (p.Lys1855Asn) c.5547G>C (p.Lys1849Asn) c.5493G>C (p.Lys1831Asn) c.5412G>C (p.Lys1804Asn) c.5355G>C (p.Lys1785Asn) c.3441G>C (p.Lys1147Asn) c.2619G>C (p.Lys873Asn) n.5634G>C c.5661G>C (p.Lys1887Asn) c.5589G>C (p.Lys1863Asn) c.5451G>C (p.Lys1817Asn) c.3537G>C (p.Lys1179Asn) | |
| 16 | g.2109626C>T | CA493047939 | PKD1 | c.5541G>A (p.Lys1847=) n.311-2678G>A n.431-276G>A c.233+2190G>A n.791-2678G>A c.228G>A (p.Lys76=) c.473-1268G>A n.774-2678G>A c.2227-2678G>A (n.2227-2678G>A) n.422-2678G>A c.2496G>A (p.Lys832=) c.5619G>A (p.Lys1873=) c.5595G>A (p.Lys1865=) c.5565G>A (p.Lys1855=) c.5547G>A (p.Lys1849=) c.5493G>A (p.Lys1831=) c.5412G>A (p.Lys1804=) c.5355G>A (p.Lys1785=) c.3441G>A (p.Lys1147=) c.2619G>A (p.Lys873=) n.5634G>A c.5661G>A (p.Lys1887=) c.5589G>A (p.Lys1863=) c.5451G>A (p.Lys1817=) c.3537G>A (p.Lys1179=) | ClinVar gnomAD v4 |
| 16 | g.2109627T>A | CA394376428 | PKD1 | c.5540A>T (p.Lys1847Met) n.311-2679A>T n.431-277A>T c.233+2189A>T n.791-2679A>T c.227A>T (p.Lys76Met) c.473-1269A>T n.774-2679A>T c.2227-2679A>T (n.2227-2679A>T) n.422-2679A>T c.2495A>T (p.Lys832Met) c.5618A>T (p.Lys1873Met) c.5594A>T (p.Lys1865Met) c.5564A>T (p.Lys1855Met) c.5546A>T (p.Lys1849Met) c.5492A>T (p.Lys1831Met) c.5411A>T (p.Lys1804Met) c.5354A>T (p.Lys1785Met) c.3440A>T (p.Lys1147Met) c.2618A>T (p.Lys873Met) n.5633A>T c.5660A>T (p.Lys1887Met) c.5588A>T (p.Lys1863Met) c.5450A>T (p.Lys1817Met) c.3536A>T (p.Lys1179Met) | gnomAD v4 |
| 16 | g.2109627T>C | CA394376430 | PKD1 | c.5540A>G (p.Lys1847Arg) n.311-2679A>G n.431-277A>G c.233+2189A>G n.791-2679A>G c.227A>G (p.Lys76Arg) c.473-1269A>G n.774-2679A>G c.2227-2679A>G (n.2227-2679A>G) n.422-2679A>G c.2495A>G (p.Lys832Arg) c.5618A>G (p.Lys1873Arg) c.5594A>G (p.Lys1865Arg) c.5564A>G (p.Lys1855Arg) c.5546A>G (p.Lys1849Arg) c.5492A>G (p.Lys1831Arg) c.5411A>G (p.Lys1804Arg) c.5354A>G (p.Lys1785Arg) c.3440A>G (p.Lys1147Arg) c.2618A>G (p.Lys873Arg) n.5633A>G c.5660A>G (p.Lys1887Arg) c.5588A>G (p.Lys1863Arg) c.5450A>G (p.Lys1817Arg) c.3536A>G (p.Lys1179Arg) | gnomAD v4 |
| 16 | g.2109627T>G | CA394376432 | PKD1 | c.5540A>C (p.Lys1847Thr) n.311-2679A>C n.431-277A>C c.233+2189A>C n.791-2679A>C c.227A>C (p.Lys76Thr) c.473-1269A>C n.774-2679A>C c.2227-2679A>C (n.2227-2679A>C) n.422-2679A>C c.2495A>C (p.Lys832Thr) c.5618A>C (p.Lys1873Thr) c.5594A>C (p.Lys1865Thr) c.5564A>C (p.Lys1855Thr) c.5546A>C (p.Lys1849Thr) c.5492A>C (p.Lys1831Thr) c.5411A>C (p.Lys1804Thr) c.5354A>C (p.Lys1785Thr) c.3440A>C (p.Lys1147Thr) c.2618A>C (p.Lys873Thr) n.5633A>C c.5660A>C (p.Lys1887Thr) c.5588A>C (p.Lys1863Thr) c.5450A>C (p.Lys1817Thr) c.3536A>C (p.Lys1179Thr) | |
| 16 | g.2109627T= | CA2202046401 | PKD1 | c.5540A= (p.Lys1847=) n.311-2679A= n.431-277A= c.233+2189A= n.791-2679A= c.227A= (p.Lys76=) c.473-1269A= n.774-2679A= c.2227-2679A= (n.2227-2679A=) n.422-2679A= c.2495A= (p.Lys832=) c.5618A= (p.Lys1873=) c.5594A= (p.Lys1865=) c.5564A= (p.Lys1855=) c.5546A= (p.Lys1849=) c.5492A= (p.Lys1831=) c.5411A= (p.Lys1804=) c.5354A= (p.Lys1785=) c.3440A= (p.Lys1147=) c.2618A= (p.Lys873=) n.5633A= c.5660A= (p.Lys1887=) c.5588A= (p.Lys1863=) c.5450A= (p.Lys1817=) c.3536A= (p.Lys1179=) | |
| 16 | g.2109628T>A | CA394376434 | PKD1 | c.5539A>T (p.Lys1847Ter) n.311-2680A>T n.431-278A>T c.233+2188A>T n.791-2680A>T c.226A>T (p.Lys76Ter) c.473-1270A>T n.774-2680A>T c.2227-2680A>T (n.2227-2680A>T) n.422-2680A>T c.2494A>T (p.Lys832Ter) c.5617A>T (p.Lys1873Ter) c.5593A>T (p.Lys1865Ter) c.5563A>T (p.Lys1855Ter) c.5545A>T (p.Lys1849Ter) c.5491A>T (p.Lys1831Ter) c.5410A>T (p.Lys1804Ter) c.5353A>T (p.Lys1785Ter) c.3439A>T (p.Lys1147Ter) c.2617A>T (p.Lys873Ter) n.5632A>T c.5659A>T (p.Lys1887Ter) c.5587A>T (p.Lys1863Ter) c.5449A>T (p.Lys1817Ter) c.3535A>T (p.Lys1179Ter) | |
| 16 | g.2109628T>C | CA394376436 | PKD1 | c.5539A>G (p.Lys1847Glu) n.311-2680A>G n.431-278A>G c.233+2188A>G n.791-2680A>G c.226A>G (p.Lys76Glu) c.473-1270A>G n.774-2680A>G c.2227-2680A>G (n.2227-2680A>G) n.422-2680A>G c.2494A>G (p.Lys832Glu) c.5617A>G (p.Lys1873Glu) c.5593A>G (p.Lys1865Glu) c.5563A>G (p.Lys1855Glu) c.5545A>G (p.Lys1849Glu) c.5491A>G (p.Lys1831Glu) c.5410A>G (p.Lys1804Glu) c.5353A>G (p.Lys1785Glu) c.3439A>G (p.Lys1147Glu) c.2617A>G (p.Lys873Glu) n.5632A>G c.5659A>G (p.Lys1887Glu) c.5587A>G (p.Lys1863Glu) c.5449A>G (p.Lys1817Glu) c.3535A>G (p.Lys1179Glu) | |
| 16 | g.2109628T>G | CA394376437 | PKD1 | c.5539A>C (p.Lys1847Gln) n.311-2680A>C n.431-278A>C c.233+2188A>C n.791-2680A>C c.226A>C (p.Lys76Gln) c.473-1270A>C n.774-2680A>C c.2227-2680A>C (n.2227-2680A>C) n.422-2680A>C c.2494A>C (p.Lys832Gln) c.5617A>C (p.Lys1873Gln) c.5593A>C (p.Lys1865Gln) c.5563A>C (p.Lys1855Gln) c.5545A>C (p.Lys1849Gln) c.5491A>C (p.Lys1831Gln) c.5410A>C (p.Lys1804Gln) c.5353A>C (p.Lys1785Gln) c.3439A>C (p.Lys1147Gln) c.2617A>C (p.Lys873Gln) n.5632A>C c.5659A>C (p.Lys1887Gln) c.5587A>C (p.Lys1863Gln) c.5449A>C (p.Lys1817Gln) c.3535A>C (p.Lys1179Gln) | |
| 16 | g.2109634_2109636dup | CA620705786 | PKD1 | c.5537_5539dup (p.Ser1846_Lys1847insSer) n.311-2682_311-2680dup n.431-280_431-278dup c.233+2186_233+2188dup n.791-2682_791-2680dup c.224_226dup (p.Ser75_Lys76insSer) c.473-1272_473-1270dup n.774-2682_774-2680dup c.2227-2682_2227-2680dup (n.2227-2682_2227-2680dup) n.422-2682_422-2680dup c.2492_2494dup (p.Ser831_Lys832insSer) c.5615_5617dup (p.Ser1872_Lys1873insSer) c.5591_5593dup (p.Ser1864_Lys1865insSer) c.5561_5563dup (p.Ser1854_Lys1855insSer) c.5543_5545dup (p.Ser1848_Lys1849insSer) c.5489_5491dup (p.Ser1830_Lys1831insSer) c.5408_5410dup (p.Ser1803_Lys1804insSer) c.5351_5353dup (p.Ser1784_Lys1785insSer) c.3437_3439dup (p.Ser1146_Lys1147insSer) c.2615_2617dup (p.Ser872_Lys873insSer) n.5630_5632dup c.5657_5659dup (p.Ser1886_Lys1887insSer) c.5585_5587dup (p.Ser1862_Lys1863insSer) c.5447_5449dup (p.Ser1816_Lys1817insSer) c.3533_3535dup (p.Ser1178_Lys1179insSer) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2109629G>A | CA493047945 | PKD1 | c.5538C>T (p.Ser1846=) n.311-2681C>T n.431-279C>T c.233+2187C>T n.791-2681C>T c.225C>T (p.Ser75=) c.473-1271C>T n.774-2681C>T c.2227-2681C>T (n.2227-2681C>T) n.422-2681C>T c.2493C>T (p.Ser831=) c.5616C>T (p.Ser1872=) c.5592C>T (p.Ser1864=) c.5562C>T (p.Ser1854=) c.5544C>T (p.Ser1848=) c.5490C>T (p.Ser1830=) c.5409C>T (p.Ser1803=) c.5352C>T (p.Ser1784=) c.3438C>T (p.Ser1146=) c.2616C>T (p.Ser872=) n.5631C>T c.5658C>T (p.Ser1886=) c.5586C>T (p.Ser1862=) c.5448C>T (p.Ser1816=) c.3534C>T (p.Ser1178=) | dbSNP |
| 16 | g.2109629G>C | CA394376439 | PKD1 | c.5538C>G (p.Ser1846Arg) n.311-2681C>G n.431-279C>G c.233+2187C>G n.791-2681C>G c.225C>G (p.Ser75Arg) c.473-1271C>G n.774-2681C>G c.2227-2681C>G (n.2227-2681C>G) n.422-2681C>G c.2493C>G (p.Ser831Arg) c.5616C>G (p.Ser1872Arg) c.5592C>G (p.Ser1864Arg) c.5562C>G (p.Ser1854Arg) c.5544C>G (p.Ser1848Arg) c.5490C>G (p.Ser1830Arg) c.5409C>G (p.Ser1803Arg) c.5352C>G (p.Ser1784Arg) c.3438C>G (p.Ser1146Arg) c.2616C>G (p.Ser872Arg) n.5631C>G c.5658C>G (p.Ser1886Arg) c.5586C>G (p.Ser1862Arg) c.5448C>G (p.Ser1816Arg) c.3534C>G (p.Ser1178Arg) | dbSNP |
| 16 | g.2109629G= | CA2202046402 | PKD1 | c.5538C= (p.Ser1846=) n.311-2681C= n.431-279C= c.233+2187C= n.791-2681C= c.225C= (p.Ser75=) c.473-1271C= n.774-2681C= c.2227-2681C= (n.2227-2681C=) n.422-2681C= c.2493C= (p.Ser831=) c.5616C= (p.Ser1872=) c.5592C= (p.Ser1864=) c.5562C= (p.Ser1854=) c.5544C= (p.Ser1848=) c.5490C= (p.Ser1830=) c.5409C= (p.Ser1803=) c.5352C= (p.Ser1784=) c.3438C= (p.Ser1146=) c.2616C= (p.Ser872=) n.5631C= c.5658C= (p.Ser1886=) c.5586C= (p.Ser1862=) c.5448C= (p.Ser1816=) c.3534C= (p.Ser1178=) | |
| 16 | g.2109629G>T | CA394376438 | PKD1 | c.5538C>A (p.Ser1846Arg) n.311-2681C>A n.431-279C>A c.233+2187C>A n.791-2681C>A c.225C>A (p.Ser75Arg) c.473-1271C>A n.774-2681C>A c.2227-2681C>A (n.2227-2681C>A) n.422-2681C>A c.2493C>A (p.Ser831Arg) c.5616C>A (p.Ser1872Arg) c.5592C>A (p.Ser1864Arg) c.5562C>A (p.Ser1854Arg) c.5544C>A (p.Ser1848Arg) c.5490C>A (p.Ser1830Arg) c.5409C>A (p.Ser1803Arg) c.5352C>A (p.Ser1784Arg) c.3438C>A (p.Ser1146Arg) c.2616C>A (p.Ser872Arg) n.5631C>A c.5658C>A (p.Ser1886Arg) c.5586C>A (p.Ser1862Arg) c.5448C>A (p.Ser1816Arg) c.3534C>A (p.Ser1178Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2109630C>A | CA394376441 | PKD1 | c.5537G>T (p.Ser1846Ile) n.311-2682G>T n.431-280G>T c.233+2186G>T n.791-2682G>T c.224G>T (p.Ser75Ile) c.473-1272G>T n.774-2682G>T c.2227-2682G>T (n.2227-2682G>T) n.422-2682G>T c.2492G>T (p.Ser831Ile) c.5615G>T (p.Ser1872Ile) c.5591G>T (p.Ser1864Ile) c.5561G>T (p.Ser1854Ile) c.5543G>T (p.Ser1848Ile) c.5489G>T (p.Ser1830Ile) c.5408G>T (p.Ser1803Ile) c.5351G>T (p.Ser1784Ile) c.3437G>T (p.Ser1146Ile) c.2615G>T (p.Ser872Ile) n.5630G>T c.5657G>T (p.Ser1886Ile) c.5585G>T (p.Ser1862Ile) c.5447G>T (p.Ser1816Ile) c.3533G>T (p.Ser1178Ile) | gnomAD v4 |
| 16 | g.2109630C= | CA2202046403 | PKD1 | c.5537G= (p.Ser1846=) n.311-2682G= n.431-280G= c.233+2186G= n.791-2682G= c.224G= (p.Ser75=) c.473-1272G= n.774-2682G= c.2227-2682G= (n.2227-2682G=) n.422-2682G= c.2492G= (p.Ser831=) c.5615G= (p.Ser1872=) c.5591G= (p.Ser1864=) c.5561G= (p.Ser1854=) c.5543G= (p.Ser1848=) c.5489G= (p.Ser1830=) c.5408G= (p.Ser1803=) c.5351G= (p.Ser1784=) c.3437G= (p.Ser1146=) c.2615G= (p.Ser872=) n.5630G= c.5657G= (p.Ser1886=) c.5585G= (p.Ser1862=) c.5447G= (p.Ser1816=) c.3533G= (p.Ser1178=) | |
| 16 | g.2109630C>G | CA7831951 | PKD1 | c.5537G>C (p.Ser1846Thr) n.311-2682G>C n.431-280G>C c.233+2186G>C n.791-2682G>C c.224G>C (p.Ser75Thr) c.473-1272G>C n.774-2682G>C c.2227-2682G>C (n.2227-2682G>C) n.422-2682G>C c.2492G>C (p.Ser831Thr) c.5615G>C (p.Ser1872Thr) c.5591G>C (p.Ser1864Thr) c.5561G>C (p.Ser1854Thr) c.5543G>C (p.Ser1848Thr) c.5489G>C (p.Ser1830Thr) c.5408G>C (p.Ser1803Thr) c.5351G>C (p.Ser1784Thr) c.3437G>C (p.Ser1146Thr) c.2615G>C (p.Ser872Thr) n.5630G>C c.5657G>C (p.Ser1886Thr) c.5585G>C (p.Ser1862Thr) c.5447G>C (p.Ser1816Thr) c.3533G>C (p.Ser1178Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2109630C>T | CA394376444 | PKD1 | c.5537G>A (p.Ser1846Asn) n.311-2682G>A n.431-280G>A c.233+2186G>A n.791-2682G>A c.224G>A (p.Ser75Asn) c.473-1272G>A n.774-2682G>A c.2227-2682G>A (n.2227-2682G>A) n.422-2682G>A c.2492G>A (p.Ser831Asn) c.5615G>A (p.Ser1872Asn) c.5591G>A (p.Ser1864Asn) c.5561G>A (p.Ser1854Asn) c.5543G>A (p.Ser1848Asn) c.5489G>A (p.Ser1830Asn) c.5408G>A (p.Ser1803Asn) c.5351G>A (p.Ser1784Asn) c.3437G>A (p.Ser1146Asn) c.2615G>A (p.Ser872Asn) n.5630G>A c.5657G>A (p.Ser1886Asn) c.5585G>A (p.Ser1862Asn) c.5447G>A (p.Ser1816Asn) c.3533G>A (p.Ser1178Asn) | gnomAD v4 |
| 16 | g.2109631del | CA2695222271 | PKD1 | c.5536del (p.Ser1846AlafsTer?) n.311-2683del n.431-281del c.233+2185del n.791-2683del c.223del (p.Ser75AlafsTer?) c.473-1273del n.774-2683del c.2227-2683del (n.2227-2683del) n.422-2683del c.2491del (p.Ser831AlafsTer?) c.5614del (p.Ser1872AlafsTer?) c.5590del (p.Ser1864AlafsTer?) c.5560del (p.Ser1854AlafsTer?) c.5542del (p.Ser1848AlafsTer?) c.5488del (p.Ser1830AlafsTer?) c.5407del (p.Ser1803AlafsTer?) c.5350del (p.Ser1784AlafsTer?) c.3436del (p.Ser1146AlafsTer?) c.2614del (p.Ser872AlafsTer?) n.5629del c.5656del (p.Ser1886AlafsTer?) c.5584del (p.Ser1862AlafsTer?) c.5446del (p.Ser1816AlafsTer?) c.3532del (p.Ser1178AlafsTer?) | |
| 16 | g.2109631T>A | CA394376446 | PKD1 | c.5536A>T (p.Ser1846Cys) n.311-2683A>T n.431-281A>T c.233+2185A>T n.791-2683A>T c.223A>T (p.Ser75Cys) c.473-1273A>T n.774-2683A>T c.2227-2683A>T (n.2227-2683A>T) n.422-2683A>T c.2491A>T (p.Ser831Cys) c.5614A>T (p.Ser1872Cys) c.5590A>T (p.Ser1864Cys) c.5560A>T (p.Ser1854Cys) c.5542A>T (p.Ser1848Cys) c.5488A>T (p.Ser1830Cys) c.5407A>T (p.Ser1803Cys) c.5350A>T (p.Ser1784Cys) c.3436A>T (p.Ser1146Cys) c.2614A>T (p.Ser872Cys) n.5629A>T c.5656A>T (p.Ser1886Cys) c.5584A>T (p.Ser1862Cys) c.5446A>T (p.Ser1816Cys) c.3532A>T (p.Ser1178Cys) | |
| 16 | g.2109631T>C | CA394376448 | PKD1 | c.5536A>G (p.Ser1846Gly) n.311-2683A>G n.431-281A>G c.233+2185A>G n.791-2683A>G c.223A>G (p.Ser75Gly) c.473-1273A>G n.774-2683A>G c.2227-2683A>G (n.2227-2683A>G) n.422-2683A>G c.2491A>G (p.Ser831Gly) c.5614A>G (p.Ser1872Gly) c.5590A>G (p.Ser1864Gly) c.5560A>G (p.Ser1854Gly) c.5542A>G (p.Ser1848Gly) c.5488A>G (p.Ser1830Gly) c.5407A>G (p.Ser1803Gly) c.5350A>G (p.Ser1784Gly) c.3436A>G (p.Ser1146Gly) c.2614A>G (p.Ser872Gly) n.5629A>G c.5656A>G (p.Ser1886Gly) c.5584A>G (p.Ser1862Gly) c.5446A>G (p.Ser1816Gly) c.3532A>G (p.Ser1178Gly) | |
| 16 | g.2109631T>G | CA394376450 | PKD1 | c.5536A>C (p.Ser1846Arg) n.311-2683A>C n.431-281A>C c.233+2185A>C n.791-2683A>C c.223A>C (p.Ser75Arg) c.473-1273A>C n.774-2683A>C c.2227-2683A>C (n.2227-2683A>C) n.422-2683A>C c.2491A>C (p.Ser831Arg) c.5614A>C (p.Ser1872Arg) c.5590A>C (p.Ser1864Arg) c.5560A>C (p.Ser1854Arg) c.5542A>C (p.Ser1848Arg) c.5488A>C (p.Ser1830Arg) c.5407A>C (p.Ser1803Arg) c.5350A>C (p.Ser1784Arg) c.3436A>C (p.Ser1146Arg) c.2614A>C (p.Ser872Arg) n.5629A>C c.5656A>C (p.Ser1886Arg) c.5584A>C (p.Ser1862Arg) c.5446A>C (p.Ser1816Arg) c.3532A>C (p.Ser1178Arg) | |
| 16 | g.2109632G>A | CA493047948 | PKD1 | c.5535C>T (p.Ser1845=) n.311-2684C>T n.431-282C>T c.233+2184C>T n.791-2684C>T c.222C>T (p.Ser74=) c.473-1274C>T n.774-2684C>T c.2227-2684C>T (n.2227-2684C>T) n.422-2684C>T c.2490C>T (p.Ser830=) c.5613C>T (p.Ser1871=) c.5589C>T (p.Ser1863=) c.5559C>T (p.Ser1853=) c.5541C>T (p.Ser1847=) c.5487C>T (p.Ser1829=) c.5406C>T (p.Ser1802=) c.5349C>T (p.Ser1783=) c.3435C>T (p.Ser1145=) c.2613C>T (p.Ser871=) n.5628C>T c.5655C>T (p.Ser1885=) c.5583C>T (p.Ser1861=) c.5445C>T (p.Ser1815=) c.3531C>T (p.Ser1177=) | gnomAD v4 |
| 16 | g.2109632G>C | CA394376454 | PKD1 | c.5535C>G (p.Ser1845Arg) n.311-2684C>G n.431-282C>G c.233+2184C>G n.791-2684C>G c.222C>G (p.Ser74Arg) c.473-1274C>G n.774-2684C>G c.2227-2684C>G (n.2227-2684C>G) n.422-2684C>G c.2490C>G (p.Ser830Arg) c.5613C>G (p.Ser1871Arg) c.5589C>G (p.Ser1863Arg) c.5559C>G (p.Ser1853Arg) c.5541C>G (p.Ser1847Arg) c.5487C>G (p.Ser1829Arg) c.5406C>G (p.Ser1802Arg) c.5349C>G (p.Ser1783Arg) c.3435C>G (p.Ser1145Arg) c.2613C>G (p.Ser871Arg) n.5628C>G c.5655C>G (p.Ser1885Arg) c.5583C>G (p.Ser1861Arg) c.5445C>G (p.Ser1815Arg) c.3531C>G (p.Ser1177Arg) | |
| 16 | g.2109632G>T | CA394376452 | PKD1 | c.5535C>A (p.Ser1845Arg) n.311-2684C>A n.431-282C>A c.233+2184C>A n.791-2684C>A c.222C>A (p.Ser74Arg) c.473-1274C>A n.774-2684C>A c.2227-2684C>A (n.2227-2684C>A) n.422-2684C>A c.2490C>A (p.Ser830Arg) c.5613C>A (p.Ser1871Arg) c.5589C>A (p.Ser1863Arg) c.5559C>A (p.Ser1853Arg) c.5541C>A (p.Ser1847Arg) c.5487C>A (p.Ser1829Arg) c.5406C>A (p.Ser1802Arg) c.5349C>A (p.Ser1783Arg) c.3435C>A (p.Ser1145Arg) c.2613C>A (p.Ser871Arg) n.5628C>A c.5655C>A (p.Ser1885Arg) c.5583C>A (p.Ser1861Arg) c.5445C>A (p.Ser1815Arg) c.3531C>A (p.Ser1177Arg) | gnomAD v4 |
| 16 | g.2109633C>A | CA394376456 | PKD1 | c.5534G>T (p.Ser1845Ile) n.311-2685G>T n.431-283G>T c.233+2183G>T n.791-2685G>T c.221G>T (p.Ser74Ile) c.473-1275G>T n.774-2685G>T c.2227-2685G>T (n.2227-2685G>T) n.422-2685G>T c.2489G>T (p.Ser830Ile) c.5612G>T (p.Ser1871Ile) c.5588G>T (p.Ser1863Ile) c.5558G>T (p.Ser1853Ile) c.5540G>T (p.Ser1847Ile) c.5486G>T (p.Ser1829Ile) c.5405G>T (p.Ser1802Ile) c.5348G>T (p.Ser1783Ile) c.3434G>T (p.Ser1145Ile) c.2612G>T (p.Ser871Ile) n.5627G>T c.5654G>T (p.Ser1885Ile) c.5582G>T (p.Ser1861Ile) c.5444G>T (p.Ser1815Ile) c.3530G>T (p.Ser1177Ile) | gnomAD v4 |
| 16 | g.2109633C>G | CA394376457 | PKD1 | c.5534G>C (p.Ser1845Thr) n.311-2685G>C n.431-283G>C c.233+2183G>C n.791-2685G>C c.221G>C (p.Ser74Thr) c.473-1275G>C n.774-2685G>C c.2227-2685G>C (n.2227-2685G>C) n.422-2685G>C c.2489G>C (p.Ser830Thr) c.5612G>C (p.Ser1871Thr) c.5588G>C (p.Ser1863Thr) c.5558G>C (p.Ser1853Thr) c.5540G>C (p.Ser1847Thr) c.5486G>C (p.Ser1829Thr) c.5405G>C (p.Ser1802Thr) c.5348G>C (p.Ser1783Thr) c.3434G>C (p.Ser1145Thr) c.2612G>C (p.Ser871Thr) n.5627G>C c.5654G>C (p.Ser1885Thr) c.5582G>C (p.Ser1861Thr) c.5444G>C (p.Ser1815Thr) c.3530G>C (p.Ser1177Thr) | |
| 16 | g.2109633C>T | CA394376459 | PKD1 | c.5534G>A (p.Ser1845Asn) n.311-2685G>A n.431-283G>A c.233+2183G>A n.791-2685G>A c.221G>A (p.Ser74Asn) c.473-1275G>A n.774-2685G>A c.2227-2685G>A (n.2227-2685G>A) n.422-2685G>A c.2489G>A (p.Ser830Asn) c.5612G>A (p.Ser1871Asn) c.5588G>A (p.Ser1863Asn) c.5558G>A (p.Ser1853Asn) c.5540G>A (p.Ser1847Asn) c.5486G>A (p.Ser1829Asn) c.5405G>A (p.Ser1802Asn) c.5348G>A (p.Ser1783Asn) c.3434G>A (p.Ser1145Asn) c.2612G>A (p.Ser871Asn) n.5627G>A c.5654G>A (p.Ser1885Asn) c.5582G>A (p.Ser1861Asn) c.5444G>A (p.Ser1815Asn) c.3530G>A (p.Ser1177Asn) | |
| 16 | g.2109634T>A | CA394376461 | PKD1 | c.5533A>T (p.Ser1845Cys) n.311-2686A>T n.431-284A>T c.233+2182A>T n.791-2686A>T c.220A>T (p.Ser74Cys) c.473-1276A>T n.774-2686A>T c.2227-2686A>T (n.2227-2686A>T) n.422-2686A>T c.2488A>T (p.Ser830Cys) c.5611A>T (p.Ser1871Cys) c.5587A>T (p.Ser1863Cys) c.5557A>T (p.Ser1853Cys) c.5539A>T (p.Ser1847Cys) c.5485A>T (p.Ser1829Cys) c.5404A>T (p.Ser1802Cys) c.5347A>T (p.Ser1783Cys) c.3433A>T (p.Ser1145Cys) c.2611A>T (p.Ser871Cys) n.5626A>T c.5653A>T (p.Ser1885Cys) c.5581A>T (p.Ser1861Cys) c.5443A>T (p.Ser1815Cys) c.3529A>T (p.Ser1177Cys) | |
| 16 | g.2109634T>C | CA394376463 | PKD1 | c.5533A>G (p.Ser1845Gly) n.311-2686A>G n.431-284A>G c.233+2182A>G n.791-2686A>G c.220A>G (p.Ser74Gly) c.473-1276A>G n.774-2686A>G c.2227-2686A>G (n.2227-2686A>G) n.422-2686A>G c.2488A>G (p.Ser830Gly) c.5611A>G (p.Ser1871Gly) c.5587A>G (p.Ser1863Gly) c.5557A>G (p.Ser1853Gly) c.5539A>G (p.Ser1847Gly) c.5485A>G (p.Ser1829Gly) c.5404A>G (p.Ser1802Gly) c.5347A>G (p.Ser1783Gly) c.3433A>G (p.Ser1145Gly) c.2611A>G (p.Ser871Gly) n.5626A>G c.5653A>G (p.Ser1885Gly) c.5581A>G (p.Ser1861Gly) c.5443A>G (p.Ser1815Gly) c.3529A>G (p.Ser1177Gly) | |
| 16 | g.2109634T>G | CA394376464 | PKD1 | c.5533A>C (p.Ser1845Arg) n.311-2686A>C n.431-284A>C c.233+2182A>C n.791-2686A>C c.220A>C (p.Ser74Arg) c.473-1276A>C n.774-2686A>C c.2227-2686A>C (n.2227-2686A>C) n.422-2686A>C c.2488A>C (p.Ser830Arg) c.5611A>C (p.Ser1871Arg) c.5587A>C (p.Ser1863Arg) c.5557A>C (p.Ser1853Arg) c.5539A>C (p.Ser1847Arg) c.5485A>C (p.Ser1829Arg) c.5404A>C (p.Ser1802Arg) c.5347A>C (p.Ser1783Arg) c.3433A>C (p.Ser1145Arg) c.2611A>C (p.Ser871Arg) n.5626A>C c.5653A>C (p.Ser1885Arg) c.5581A>C (p.Ser1861Arg) c.5443A>C (p.Ser1815Arg) c.3529A>C (p.Ser1177Arg) | |
| 16 | g.2109634_2109637delinsTGCC | CA2202046404 | PKD1 | c.5530_5533delinsGGCA (p.Gly1844=) n.311-2689_311-2686delinsGGCA n.431-287_431-284delinsGGCA c.233+2179_233+2182delinsGGCA n.791-2689_791-2686delinsGGCA c.217_220delinsGGCA (p.Gly73=) c.473-1279_473-1276delinsGGCA n.774-2689_774-2686delinsGGCA c.2227-2689_2227-2686delinsGGCA (n.2227-2689_2227-2686delinsGGCA) n.422-2689_422-2686delinsGGCA c.2485_2488delinsGGCA (p.Gly829=) c.5608_5611delinsGGCA (p.Gly1870=) c.5584_5587delinsGGCA (p.Gly1862=) c.5554_5557delinsGGCA (p.Gly1852=) c.5536_5539delinsGGCA (p.Gly1846=) c.5482_5485delinsGGCA (p.Gly1828=) c.5401_5404delinsGGCA (p.Gly1801=) c.5344_5347delinsGGCA (p.Gly1782=) c.3430_3433delinsGGCA (p.Gly1144=) c.2608_2611delinsGGCA (p.Gly870=) n.5623_5626delinsGGCA c.5650_5653delinsGGCA (p.Gly1884=) c.5578_5581delinsGGCA (p.Gly1860=) c.5440_5443delinsGGCA (p.Gly1814=) c.3526_3529delinsGGCA (p.Gly1176=) | |
| 16 | g.2109635G>A | CA493047952 | PKD1 | c.5532C>T (p.Gly1844=) n.311-2687C>T n.431-285C>T c.233+2181C>T n.791-2687C>T c.219C>T (p.Gly73=) c.473-1277C>T n.774-2687C>T c.2227-2687C>T (n.2227-2687C>T) n.422-2687C>T c.2487C>T (p.Gly829=) c.5610C>T (p.Gly1870=) c.5586C>T (p.Gly1862=) c.5556C>T (p.Gly1852=) c.5538C>T (p.Gly1846=) c.5484C>T (p.Gly1828=) c.5403C>T (p.Gly1801=) c.5346C>T (p.Gly1782=) c.3432C>T (p.Gly1144=) c.2610C>T (p.Gly870=) n.5625C>T c.5652C>T (p.Gly1884=) c.5580C>T (p.Gly1860=) c.5442C>T (p.Gly1814=) c.3528C>T (p.Gly1176=) | dbSNP gnomAD v4 |
| 16 | g.2109635G>C | CA493047953 | PKD1 | c.5532C>G (p.Gly1844=) n.311-2687C>G n.431-285C>G c.233+2181C>G n.791-2687C>G c.219C>G (p.Gly73=) c.473-1277C>G n.774-2687C>G c.2227-2687C>G (n.2227-2687C>G) n.422-2687C>G c.2487C>G (p.Gly829=) c.5610C>G (p.Gly1870=) c.5586C>G (p.Gly1862=) c.5556C>G (p.Gly1852=) c.5538C>G (p.Gly1846=) c.5484C>G (p.Gly1828=) c.5403C>G (p.Gly1801=) c.5346C>G (p.Gly1782=) c.3432C>G (p.Gly1144=) c.2610C>G (p.Gly870=) n.5625C>G c.5652C>G (p.Gly1884=) c.5580C>G (p.Gly1860=) c.5442C>G (p.Gly1814=) c.3528C>G (p.Gly1176=) | |
| 16 | g.2109635G= | CA2202046406 | PKD1 | c.5532C= (p.Gly1844=) n.311-2687C= n.431-285C= c.233+2181C= n.791-2687C= c.219C= (p.Gly73=) c.473-1277C= n.774-2687C= c.2227-2687C= (n.2227-2687C=) n.422-2687C= c.2487C= (p.Gly829=) c.5610C= (p.Gly1870=) c.5586C= (p.Gly1862=) c.5556C= (p.Gly1852=) c.5538C= (p.Gly1846=) c.5484C= (p.Gly1828=) c.5403C= (p.Gly1801=) c.5346C= (p.Gly1782=) c.3432C= (p.Gly1144=) c.2610C= (p.Gly870=) n.5625C= c.5652C= (p.Gly1884=) c.5580C= (p.Gly1860=) c.5442C= (p.Gly1814=) c.3528C= (p.Gly1176=) | |
| 16 | g.2109635G>T | CA493047954 | PKD1 | c.5532C>A (p.Gly1844=) n.311-2687C>A n.431-285C>A c.233+2181C>A n.791-2687C>A c.219C>A (p.Gly73=) c.473-1277C>A n.774-2687C>A c.2227-2687C>A (n.2227-2687C>A) n.422-2687C>A c.2487C>A (p.Gly829=) c.5610C>A (p.Gly1870=) c.5586C>A (p.Gly1862=) c.5556C>A (p.Gly1852=) c.5538C>A (p.Gly1846=) c.5484C>A (p.Gly1828=) c.5403C>A (p.Gly1801=) c.5346C>A (p.Gly1782=) c.3432C>A (p.Gly1144=) c.2610C>A (p.Gly870=) n.5625C>A c.5652C>A (p.Gly1884=) c.5580C>A (p.Gly1860=) c.5442C>A (p.Gly1814=) c.3528C>A (p.Gly1176=) | |
| 16 | g.2109639_2109641del | CA2202046405 | PKD1 | c.5530_5532del (p.Gly1844del) n.311-2689_311-2687del n.431-287_431-285del c.233+2179_233+2181del n.791-2689_791-2687del c.217_219del (p.Gly73del) c.473-1279_473-1277del n.774-2689_774-2687del c.2227-2689_2227-2687del (n.2227-2689_2227-2687del) n.422-2689_422-2687del c.2485_2487del (p.Gly829del) c.5608_5610del (p.Gly1870del) c.5584_5586del (p.Gly1862del) c.5554_5556del (p.Gly1852del) c.5536_5538del (p.Gly1846del) c.5482_5484del (p.Gly1828del) c.5401_5403del (p.Gly1801del) c.5344_5346del (p.Gly1782del) c.3430_3432del (p.Gly1144del) c.2608_2610del (p.Gly870del) n.5623_5625del c.5650_5652del (p.Gly1884del) c.5578_5580del (p.Gly1860del) c.5440_5442del (p.Gly1814del) c.3526_3528del (p.Gly1176del) | dbSNP gnomAD v4 |
| 16 | g.2109636C>A | CA394376466 | PKD1 | c.5531G>T (p.Gly1844Val) n.311-2688G>T n.431-286G>T c.233+2180G>T n.791-2688G>T c.218G>T (p.Gly73Val) c.473-1278G>T n.774-2688G>T c.2227-2688G>T (n.2227-2688G>T) n.422-2688G>T c.2486G>T (p.Gly829Val) c.5609G>T (p.Gly1870Val) c.5585G>T (p.Gly1862Val) c.5555G>T (p.Gly1852Val) c.5537G>T (p.Gly1846Val) c.5483G>T (p.Gly1828Val) c.5402G>T (p.Gly1801Val) c.5345G>T (p.Gly1782Val) c.3431G>T (p.Gly1144Val) c.2609G>T (p.Gly870Val) n.5624G>T c.5651G>T (p.Gly1884Val) c.5579G>T (p.Gly1860Val) c.5441G>T (p.Gly1814Val) c.3527G>T (p.Gly1176Val) | gnomAD v4 |