| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52025136C>A | CA450614257 | PKHD1 | c.4674G>T (p.Gly1558=) c.4102-70G>T (n.4102-70G>T) c.3963G>T (p.Gly1321=) c.4599G>T (p.Gly1533=) c.4410G>T (p.Gly1470=) c.2814G>T (p.Gly938=) n.4950G>T | ClinVar gnomAD v4 |
| 6 | g.52025136C= | CA1628647219 | PKHD1 | c.4674G= (p.Gly1558=) c.4102-70G= (n.4102-70G=) c.3963G= (p.Gly1321=) c.4599G= (p.Gly1533=) c.4410G= (p.Gly1470=) c.2814G= (p.Gly938=) n.4950G= | |
| 6 | g.52025136C>G | CA138946599 | PKHD1 | c.4674G>C (p.Gly1558=) c.4102-70G>C (n.4102-70G>C) c.3963G>C (p.Gly1321=) c.4599G>C (p.Gly1533=) c.4410G>C (p.Gly1470=) c.2814G>C (p.Gly938=) n.4950G>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025136C>T | CA450614258 | PKHD1 | c.4674G>A (p.Gly1558=) c.4102-70G>A (n.4102-70G>A) c.3963G>A (p.Gly1321=) c.4599G>A (p.Gly1533=) c.4410G>A (p.Gly1470=) c.2814G>A (p.Gly938=) n.4950G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025137C>A | CA364431930 | PKHD1 | c.4673G>T (p.Gly1558Val) c.4102-71G>T (n.4102-71G>T) c.3962G>T (p.Gly1321Val) c.4598G>T (p.Gly1533Val) c.4409G>T (p.Gly1470Val) c.2813G>T (p.Gly938Val) n.4949G>T | |
| 6 | g.52025137C= | CA1628647222 | PKHD1 | c.4673G= (p.Gly1558=) c.4102-71G= (n.4102-71G=) c.3962G= (p.Gly1321=) c.4598G= (p.Gly1533=) c.4409G= (p.Gly1470=) c.2813G= (p.Gly938=) n.4949G= | |
| 6 | g.52025137C>G | CA364431927 | PKHD1 | c.4673G>C (p.Gly1558Ala) c.4102-71G>C (n.4102-71G>C) c.3962G>C (p.Gly1321Ala) c.4598G>C (p.Gly1533Ala) c.4409G>C (p.Gly1470Ala) c.2813G>C (p.Gly938Ala) n.4949G>C | |
| 6 | g.52025137C>T | CA3852685 | PKHD1 | c.4673G>A (p.Gly1558Glu) c.4102-71G>A (n.4102-71G>A) c.3962G>A (p.Gly1321Glu) c.4598G>A (p.Gly1533Glu) c.4409G>A (p.Gly1470Glu) c.2813G>A (p.Gly938Glu) n.4949G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52025138C>A | CA364431933 | PKHD1 | c.4672G>T (p.Gly1558Trp) c.4102-72G>T (n.4102-72G>T) c.3961G>T (p.Gly1321Trp) c.4597G>T (p.Gly1533Trp) c.4408G>T (p.Gly1470Trp) c.2812G>T (p.Gly938Trp) n.4948G>T | gnomAD v4 |
| 6 | g.52025138C= | CA1628647225 | PKHD1 | c.4672G= (p.Gly1558=) c.4102-72G= (n.4102-72G=) c.3961G= (p.Gly1321=) c.4597G= (p.Gly1533=) c.4408G= (p.Gly1470=) c.2812G= (p.Gly938=) n.4948G= | |
| 6 | g.52025138C>G | CA364431941 | PKHD1 | c.4672G>C (p.Gly1558Arg) c.4102-72G>C (n.4102-72G>C) c.3961G>C (p.Gly1321Arg) c.4597G>C (p.Gly1533Arg) c.4408G>C (p.Gly1470Arg) c.2812G>C (p.Gly938Arg) n.4948G>C | |
| 6 | g.52025138C>T | CA364431936 | PKHD1 | c.4672G>A (p.Gly1558Arg) c.4102-72G>A (n.4102-72G>A) c.3961G>A (p.Gly1321Arg) c.4597G>A (p.Gly1533Arg) c.4408G>A (p.Gly1470Arg) c.2812G>A (p.Gly938Arg) n.4948G>A | dbSNP COSMIC COSMIC |
| 6 | g.52025139A>C | CA364431943 | PKHD1 | c.4671T>G (p.Asn1557Lys) c.4102-73T>G (n.4102-73T>G) c.3960T>G (p.Asn1320Lys) c.4596T>G (p.Asn1532Lys) c.4407T>G (p.Asn1469Lys) c.2811T>G (p.Asn937Lys) n.4947T>G | |
| 6 | g.52025139A>G | CA450614260 | PKHD1 | c.4671T>C (p.Asn1557=) c.4102-73T>C (n.4102-73T>C) c.3960T>C (p.Asn1320=) c.4596T>C (p.Asn1532=) c.4407T>C (p.Asn1469=) c.2811T>C (p.Asn937=) n.4947T>C | gnomAD v4 |
| 6 | g.52025139A>T | CA364431944 | PKHD1 | c.4671T>A (p.Asn1557Lys) c.4102-73T>A (n.4102-73T>A) c.3960T>A (p.Asn1320Lys) c.4596T>A (p.Asn1532Lys) c.4407T>A (p.Asn1469Lys) c.2811T>A (p.Asn937Lys) n.4947T>A | gnomAD v4 |
| 6 | g.52025140T>A | CA364431946 | PKHD1 | c.4670A>T (p.Asn1557Ile) c.4102-74A>T (n.4102-74A>T) c.3959A>T (p.Asn1320Ile) c.4595A>T (p.Asn1532Ile) c.4406A>T (p.Asn1469Ile) c.2810A>T (p.Asn937Ile) n.4946A>T | |
| 6 | g.52025140T>C | CA364431948 | PKHD1 | c.4670A>G (p.Asn1557Ser) c.4102-74A>G (n.4102-74A>G) c.3959A>G (p.Asn1320Ser) c.4595A>G (p.Asn1532Ser) c.4406A>G (p.Asn1469Ser) c.2810A>G (p.Asn937Ser) n.4946A>G | |
| 6 | g.52025140T>G | CA364431950 | PKHD1 | c.4670A>C (p.Asn1557Thr) c.4102-74A>C (n.4102-74A>C) c.3959A>C (p.Asn1320Thr) c.4595A>C (p.Asn1532Thr) c.4406A>C (p.Asn1469Thr) c.2810A>C (p.Asn937Thr) n.4946A>C | |
| 6 | g.52025141T>A | CA364431953 | PKHD1 | c.4669A>T (p.Asn1557Tyr) c.4102-75A>T (n.4102-75A>T) c.3958A>T (p.Asn1320Tyr) c.4594A>T (p.Asn1532Tyr) c.4405A>T (p.Asn1469Tyr) c.2809A>T (p.Asn937Tyr) n.4945A>T | |
| 6 | g.52025141T>C | CA364431955 | PKHD1 | c.4669A>G (p.Asn1557Asp) c.4102-75A>G (n.4102-75A>G) c.3958A>G (p.Asn1320Asp) c.4594A>G (p.Asn1532Asp) c.4405A>G (p.Asn1469Asp) c.2809A>G (p.Asn937Asp) n.4945A>G | |
| 6 | g.52025141T>G | CA364431957 | PKHD1 | c.4669A>C (p.Asn1557His) c.4102-75A>C (n.4102-75A>C) c.3958A>C (p.Asn1320His) c.4594A>C (p.Asn1532His) c.4405A>C (p.Asn1469His) c.2809A>C (p.Asn937His) n.4945A>C | |
| 6 | g.52025142T>A | CA364431959 | PKHD1 | c.4668A>T (p.Arg1556Ser) c.4102-76A>T (n.4102-76A>T) c.3957A>T (p.Arg1319Ser) c.4593A>T (p.Arg1531Ser) c.4404A>T (p.Arg1468Ser) c.2808A>T (p.Arg936Ser) n.4944A>T | |
| 6 | g.52025142T>C | CA450614262 | PKHD1 | c.4668A>G (p.Arg1556=) c.4102-76A>G (n.4102-76A>G) c.3957A>G (p.Arg1319=) c.4593A>G (p.Arg1531=) c.4404A>G (p.Arg1468=) c.2808A>G (p.Arg936=) n.4944A>G | |
| 6 | g.52025142T>G | CA364431961 | PKHD1 | c.4668A>C (p.Arg1556Ser) c.4102-76A>C (n.4102-76A>C) c.3957A>C (p.Arg1319Ser) c.4593A>C (p.Arg1531Ser) c.4404A>C (p.Arg1468Ser) c.2808A>C (p.Arg936Ser) n.4944A>C | |
| 6 | g.52025143C>A | CA364431964 | PKHD1 | c.4667G>T (p.Arg1556Ile) c.4102-77G>T (n.4102-77G>T) c.3956G>T (p.Arg1319Ile) c.4592G>T (p.Arg1531Ile) c.4403G>T (p.Arg1468Ile) c.2807G>T (p.Arg936Ile) n.4943G>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025143C= | CA1628647227 | PKHD1 | c.4667G= (p.Arg1556=) c.4102-77G= (n.4102-77G=) c.3956G= (p.Arg1319=) c.4592G= (p.Arg1531=) c.4403G= (p.Arg1468=) c.2807G= (p.Arg936=) n.4943G= | |
| 6 | g.52025143C>G | CA364431966 | PKHD1 | c.4667G>C (p.Arg1556Thr) c.4102-77G>C (n.4102-77G>C) c.3956G>C (p.Arg1319Thr) c.4592G>C (p.Arg1531Thr) c.4403G>C (p.Arg1468Thr) c.2807G>C (p.Arg936Thr) n.4943G>C | ClinVar |
| 6 | g.52025143C>T | CA364431969 | PKHD1 | c.4667G>A (p.Arg1556Lys) c.4102-77G>A (n.4102-77G>A) c.3956G>A (p.Arg1319Lys) c.4592G>A (p.Arg1531Lys) c.4403G>A (p.Arg1468Lys) c.2807G>A (p.Arg936Lys) n.4943G>A | |
| 6 | g.52025144T>A | CA364431973 | PKHD1 | c.4666A>T (p.Arg1556Ter) c.4102-78A>T (n.4102-78A>T) c.3955A>T (p.Arg1319Ter) c.4591A>T (p.Arg1531Ter) c.4402A>T (p.Arg1468Ter) c.2806A>T (p.Arg936Ter) n.4942A>T | |
| 6 | g.52025144T>C | CA364431971 | PKHD1 | c.4666A>G (p.Arg1556Gly) c.4102-78A>G (n.4102-78A>G) c.3955A>G (p.Arg1319Gly) c.4591A>G (p.Arg1531Gly) c.4402A>G (p.Arg1468Gly) c.2806A>G (p.Arg936Gly) n.4942A>G | |
| 6 | g.52025144T>G | CA450614264 | PKHD1 | c.4666A>C (p.Arg1556=) c.4102-78A>C (n.4102-78A>C) c.3955A>C (p.Arg1319=) c.4591A>C (p.Arg1531=) c.4402A>C (p.Arg1468=) c.2806A>C (p.Arg936=) n.4942A>C | |
| 6 | g.52025145del | CA2739273114 | PKHD1 | c.4666del (p.Arg1556GlufsTer?) c.4102-78del (n.4102-78del) c.3955del (p.Arg1319GlufsTer?) c.4591del (p.Arg1531GlufsTer?) c.4402del (p.Arg1468GlufsTer?) c.2806del (p.Arg936GlufsTer?) n.4942del | ClinVar |
| 6 | g.52025145T>A | CA450614265 | PKHD1 | c.4665A>T (p.Thr1555=) c.4102-79A>T (n.4102-79A>T) c.3954A>T (p.Thr1318=) c.4590A>T (p.Thr1530=) c.4401A>T (p.Thr1467=) c.2805A>T (p.Thr935=) n.4941A>T | |
| 6 | g.52025145T>C | CA450614266 | PKHD1 | c.4665A>G (p.Thr1555=) c.4102-79A>G (n.4102-79A>G) c.3954A>G (p.Thr1318=) c.4590A>G (p.Thr1530=) c.4401A>G (p.Thr1467=) c.2805A>G (p.Thr935=) n.4941A>G | ClinVar gnomAD v4 |
| 6 | g.52025145T>G | CA450614267 | PKHD1 | c.4665A>C (p.Thr1555=) c.4102-79A>C (n.4102-79A>C) c.3954A>C (p.Thr1318=) c.4590A>C (p.Thr1530=) c.4401A>C (p.Thr1467=) c.2805A>C (p.Thr935=) n.4941A>C | |
| 6 | g.52025146G>A | CA364431977 | PKHD1 | c.4664C>T (p.Thr1555Ile) c.4102-80C>T (n.4102-80C>T) c.3953C>T (p.Thr1318Ile) c.4589C>T (p.Thr1530Ile) c.4400C>T (p.Thr1467Ile) c.2804C>T (p.Thr935Ile) n.4940C>T | gnomAD v4 |
| 6 | g.52025146G>C | CA364431979 | PKHD1 | c.4664C>G (p.Thr1555Arg) c.4102-80C>G (n.4102-80C>G) c.3953C>G (p.Thr1318Arg) c.4589C>G (p.Thr1530Arg) c.4400C>G (p.Thr1467Arg) c.2804C>G (p.Thr935Arg) n.4940C>G | |
| 6 | g.52025146G>T | CA364431982 | PKHD1 | c.4664C>A (p.Thr1555Lys) c.4102-80C>A (n.4102-80C>A) c.3953C>A (p.Thr1318Lys) c.4589C>A (p.Thr1530Lys) c.4400C>A (p.Thr1467Lys) c.2804C>A (p.Thr935Lys) n.4940C>A | |
| 6 | g.52025147T>A | CA364431985 | PKHD1 | c.4663A>T (p.Thr1555Ser) c.4102-81A>T (n.4102-81A>T) c.3952A>T (p.Thr1318Ser) c.4588A>T (p.Thr1530Ser) c.4399A>T (p.Thr1467Ser) c.2803A>T (p.Thr935Ser) n.4939A>T | |
| 6 | g.52025147T>C | CA364431986 | PKHD1 | c.4663A>G (p.Thr1555Ala) c.4102-81A>G (n.4102-81A>G) c.3952A>G (p.Thr1318Ala) c.4588A>G (p.Thr1530Ala) c.4399A>G (p.Thr1467Ala) c.2803A>G (p.Thr935Ala) n.4939A>G | |
| 6 | g.52025147T>G | CA364431988 | PKHD1 | c.4663A>C (p.Thr1555Pro) c.4102-81A>C (n.4102-81A>C) c.3952A>C (p.Thr1318Pro) c.4588A>C (p.Thr1530Pro) c.4399A>C (p.Thr1467Pro) c.2803A>C (p.Thr935Pro) n.4939A>C | |
| 6 | g.52025148A>C | CA364431990 | PKHD1 | c.4662T>G (p.Tyr1554Ter) c.4102-82T>G (n.4102-82T>G) c.3951T>G (p.Tyr1317Ter) c.4587T>G (p.Tyr1529Ter) c.4398T>G (p.Tyr1466Ter) c.2802T>G (p.Tyr934Ter) n.4938T>G | |
| 6 | g.52025148A>G | CA450614268 | PKHD1 | c.4662T>C (p.Tyr1554=) c.4102-82T>C (n.4102-82T>C) c.3951T>C (p.Tyr1317=) c.4587T>C (p.Tyr1529=) c.4398T>C (p.Tyr1466=) c.2802T>C (p.Tyr934=) n.4938T>C | gnomAD v4 |
| 6 | g.52025148A>T | CA364431993 | PKHD1 | c.4662T>A (p.Tyr1554Ter) c.4102-82T>A (n.4102-82T>A) c.3951T>A (p.Tyr1317Ter) c.4587T>A (p.Tyr1529Ter) c.4398T>A (p.Tyr1466Ter) c.2802T>A (p.Tyr934Ter) n.4938T>A | |
| 6 | g.52025149T>A | CA364431997 | PKHD1 | c.4661A>T (p.Tyr1554Phe) c.4102-83A>T (n.4102-83A>T) c.3950A>T (p.Tyr1317Phe) c.4586A>T (p.Tyr1529Phe) c.4397A>T (p.Tyr1466Phe) c.2801A>T (p.Tyr934Phe) n.4937A>T | |
| 6 | g.52025149T>C | CA364432000 | PKHD1 | c.4661A>G (p.Tyr1554Cys) c.4102-83A>G (n.4102-83A>G) c.3950A>G (p.Tyr1317Cys) c.4586A>G (p.Tyr1529Cys) c.4397A>G (p.Tyr1466Cys) c.2801A>G (p.Tyr934Cys) n.4937A>G | |
| 6 | g.52025149T>G | CA364432001 | PKHD1 | c.4661A>C (p.Tyr1554Ser) c.4102-83A>C (n.4102-83A>C) c.3950A>C (p.Tyr1317Ser) c.4586A>C (p.Tyr1529Ser) c.4397A>C (p.Tyr1466Ser) c.2801A>C (p.Tyr934Ser) n.4937A>C | |
| 6 | g.52025149T= | CA1628647229 | PKHD1 | c.4661A= (p.Tyr1554=) c.4102-83A= (n.4102-83A=) c.3950A= (p.Tyr1317=) c.4586A= (p.Tyr1529=) c.4397A= (p.Tyr1466=) c.2801A= (p.Tyr934=) n.4937A= | |
| 6 | g.52025150A= | CA1628647231 | PKHD1 | c.4660T= (p.Tyr1554=) c.4102-84T= (n.4102-84T=) c.3949T= (p.Tyr1317=) c.4585T= (p.Tyr1529=) c.4396T= (p.Tyr1466=) c.2800T= (p.Tyr934=) n.4936T= | |
| 6 | g.52025150A>C | CA364432006 | PKHD1 | c.4660T>G (p.Tyr1554Asp) c.4102-84T>G (n.4102-84T>G) c.3949T>G (p.Tyr1317Asp) c.4585T>G (p.Tyr1529Asp) c.4396T>G (p.Tyr1466Asp) c.2800T>G (p.Tyr934Asp) n.4936T>G |