| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52025247_52025273delinsT | CA2695198880 | PKHD1 | c.4537_4563delinsA (p.Ala1513ArgfsTer11) c.4102-207_4102-181delinsA (n.4102-207_4102-181delinsA) c.3826_3852delinsA (p.Ala1276ArgfsTer11) c.4462_4488delinsA (p.Ala1488ArgfsTer11) c.4273_4299delinsA (p.Ala1425ArgfsTer11) c.2677_2703delinsA (p.Ala893ArgfsTer11) n.4813_4839delinsA | ClinVar |
| 6 | g.52025255del | CA16041055 | PKHD1 | c.4557del (p.Phe1519LeufsTer10) c.4102-187del (n.4102-187del) c.3846del (p.Phe1282LeufsTer10) c.4482del (p.Phe1494LeufsTer10) c.4293del (p.Phe1431LeufsTer10) c.2697del (p.Phe899LeufsTer10) n.4833del | ClinVar dbSNP |
| 6 | g.52025255A>C | CA364432464 | PKHD1 | c.4555T>G (p.Phe1519Val) c.4102-189T>G (n.4102-189T>G) c.3844T>G (p.Phe1282Val) c.4480T>G (p.Phe1494Val) c.4291T>G (p.Phe1431Val) c.2695T>G (p.Phe899Val) n.4831T>G | |
| 6 | g.52025255A>G | CA364432465 | PKHD1 | c.4555T>C (p.Phe1519Leu) c.4102-189T>C (n.4102-189T>C) c.3844T>C (p.Phe1282Leu) c.4480T>C (p.Phe1494Leu) c.4291T>C (p.Phe1431Leu) c.2695T>C (p.Phe899Leu) n.4831T>C | |
| 6 | g.52025255A>T | CA364432468 | PKHD1 | c.4555T>A (p.Phe1519Ile) c.4102-189T>A (n.4102-189T>A) c.3844T>A (p.Phe1282Ile) c.4480T>A (p.Phe1494Ile) c.4291T>A (p.Phe1431Ile) c.2695T>A (p.Phe899Ile) n.4831T>A | |
| 6 | g.52025255_52025273delinsATACCATCGGCTCATCAGC | CA1628647431 | PKHD1 | c.4537_4555delinsGCTGATGAGCCGATGGTAT (p.Ala1513=) c.4102-207_4102-189delinsGCTGATGAGCCGATGGTAT (n.4102-207_4102-189delinsGCTGATGAGCCGATGGTAT) c.3826_3844delinsGCTGATGAGCCGATGGTAT (p.Ala1276=) c.4462_4480delinsGCTGATGAGCCGATGGTAT (p.Ala1488=) c.4273_4291delinsGCTGATGAGCCGATGGTAT (p.Ala1425=) c.2677_2695delinsGCTGATGAGCCGATGGTAT (p.Ala893=) n.4813_4831delinsGCTGATGAGCCGATGGTAT | |
| 6 | g.52025256T>A | CA450614419 | PKHD1 | c.4554A>T (p.Val1518=) c.4102-190A>T (n.4102-190A>T) c.3843A>T (p.Val1281=) c.4479A>T (p.Val1493=) c.4290A>T (p.Val1430=) c.2694A>T (p.Val898=) n.4830A>T | |
| 6 | g.52025256T>C | CA450614420 | PKHD1 | c.4554A>G (p.Val1518=) c.4102-190A>G (n.4102-190A>G) c.3843A>G (p.Val1281=) c.4479A>G (p.Val1493=) c.4290A>G (p.Val1430=) c.2694A>G (p.Val898=) n.4830A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.52025256T>G | CA450614421 | PKHD1 | c.4554A>C (p.Val1518=) c.4102-190A>C (n.4102-190A>C) c.3843A>C (p.Val1281=) c.4479A>C (p.Val1493=) c.4290A>C (p.Val1430=) c.2694A>C (p.Val898=) n.4830A>C | |
| 6 | g.52025256T= | CA1628647435 | PKHD1 | c.4554A= (p.Val1518=) c.4102-190A= (n.4102-190A=) c.3843A= (p.Val1281=) c.4479A= (p.Val1493=) c.4290A= (p.Val1430=) c.2694A= (p.Val898=) n.4830A= | |
| 6 | g.52025257_52025274del | CA567636253 | PKHD1 | c.4537_4554del (p.Ala1513_Val1518del) c.4102-207_4102-190del (n.4102-207_4102-190del) c.3826_3843del (p.Ala1276_Val1281del) c.4462_4479del (p.Ala1488_Val1493del) c.4273_4290del (p.Ala1425_Val1430del) c.2677_2694del (p.Ala893_Val898del) n.4813_4830del | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025257A>C | CA364432470 | PKHD1 | c.4553T>G (p.Val1518Gly) c.4102-191T>G (n.4102-191T>G) c.3842T>G (p.Val1281Gly) c.4478T>G (p.Val1493Gly) c.4289T>G (p.Val1430Gly) c.2693T>G (p.Val898Gly) n.4829T>G | |
| 6 | g.52025257A>G | CA364432471 | PKHD1 | c.4553T>C (p.Val1518Ala) c.4102-191T>C (n.4102-191T>C) c.3842T>C (p.Val1281Ala) c.4478T>C (p.Val1493Ala) c.4289T>C (p.Val1430Ala) c.2693T>C (p.Val898Ala) n.4829T>C | |
| 6 | g.52025257A>T | CA364432473 | PKHD1 | c.4553T>A (p.Val1518Glu) c.4102-191T>A (n.4102-191T>A) c.3842T>A (p.Val1281Glu) c.4478T>A (p.Val1493Glu) c.4289T>A (p.Val1430Glu) c.2693T>A (p.Val898Glu) n.4829T>A | |
| 6 | g.52025258C>A | CA3852701 | PKHD1 | c.4552G>T (p.Val1518Leu) c.4102-192G>T (n.4102-192G>T) c.3841G>T (p.Val1281Leu) c.4477G>T (p.Val1493Leu) c.4288G>T (p.Val1430Leu) c.2692G>T (p.Val898Leu) n.4828G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52025258C= | CA1628647440 | PKHD1 | c.4552G= (p.Val1518=) c.4102-192G= (n.4102-192G=) c.3841G= (p.Val1281=) c.4477G= (p.Val1493=) c.4288G= (p.Val1430=) c.2692G= (p.Val898=) n.4828G= | |
| 6 | g.52025258C>G | CA364432477 | PKHD1 | c.4552G>C (p.Val1518Leu) c.4102-192G>C (n.4102-192G>C) c.3841G>C (p.Val1281Leu) c.4477G>C (p.Val1493Leu) c.4288G>C (p.Val1430Leu) c.2692G>C (p.Val898Leu) n.4828G>C | |
| 6 | g.52025258C>T | CA364432475 | PKHD1 | c.4552G>A (p.Val1518Ile) c.4102-192G>A (n.4102-192G>A) c.3841G>A (p.Val1281Ile) c.4477G>A (p.Val1493Ile) c.4288G>A (p.Val1430Ile) c.2692G>A (p.Val898Ile) n.4828G>A | dbSNP |
| 6 | g.52025259C>A | CA364432493 | PKHD1 | c.4551G>T (p.Met1517Ile) c.4102-193G>T (n.4102-193G>T) c.3840G>T (p.Met1280Ile) c.4476G>T (p.Met1492Ile) c.4287G>T (p.Met1429Ile) c.2691G>T (p.Met897Ile) n.4827G>T | |
| 6 | g.52025259C>G | CA364432488 | PKHD1 | c.4551G>C (p.Met1517Ile) c.4102-193G>C (n.4102-193G>C) c.3840G>C (p.Met1280Ile) c.4476G>C (p.Met1492Ile) c.4287G>C (p.Met1429Ile) c.2691G>C (p.Met897Ile) n.4827G>C | |
| 6 | g.52025259C>T | CA364432491 | PKHD1 | c.4551G>A (p.Met1517Ile) c.4102-193G>A (n.4102-193G>A) c.3840G>A (p.Met1280Ile) c.4476G>A (p.Met1492Ile) c.4287G>A (p.Met1429Ile) c.2691G>A (p.Met897Ile) n.4827G>A | |
| 6 | g.52025260A>C | CA364432495 | PKHD1 | c.4550T>G (p.Met1517Arg) c.4102-194T>G (n.4102-194T>G) c.3839T>G (p.Met1280Arg) c.4475T>G (p.Met1492Arg) c.4286T>G (p.Met1429Arg) c.2690T>G (p.Met897Arg) n.4826T>G | |
| 6 | g.52025260A>G | CA364432496 | PKHD1 | c.4550T>C (p.Met1517Thr) c.4102-194T>C (n.4102-194T>C) c.3839T>C (p.Met1280Thr) c.4475T>C (p.Met1492Thr) c.4286T>C (p.Met1429Thr) c.2690T>C (p.Met897Thr) n.4826T>C | |
| 6 | g.52025260A>T | CA364432498 | PKHD1 | c.4550T>A (p.Met1517Lys) c.4102-194T>A (n.4102-194T>A) c.3839T>A (p.Met1280Lys) c.4475T>A (p.Met1492Lys) c.4286T>A (p.Met1429Lys) c.2690T>A (p.Met897Lys) n.4826T>A | |
| 6 | g.52025261T>A | CA364432501 | PKHD1 | c.4549A>T (p.Met1517Leu) c.4102-195A>T (n.4102-195A>T) c.3838A>T (p.Met1280Leu) c.4474A>T (p.Met1492Leu) c.4285A>T (p.Met1429Leu) c.2689A>T (p.Met897Leu) n.4825A>T | gnomAD v4 |
| 6 | g.52025261T>C | CA364432504 | PKHD1 | c.4549A>G (p.Met1517Val) c.4102-195A>G (n.4102-195A>G) c.3838A>G (p.Met1280Val) c.4474A>G (p.Met1492Val) c.4285A>G (p.Met1429Val) c.2689A>G (p.Met897Val) n.4825A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.52025261T>G | CA364432506 | PKHD1 | c.4549A>C (p.Met1517Leu) c.4102-195A>C (n.4102-195A>C) c.3838A>C (p.Met1280Leu) c.4474A>C (p.Met1492Leu) c.4285A>C (p.Met1429Leu) c.2689A>C (p.Met897Leu) n.4825A>C | |
| 6 | g.52025261T= | CA1628647446 | PKHD1 | c.4549A= (p.Met1517=) c.4102-195A= (n.4102-195A=) c.3838A= (p.Met1280=) c.4474A= (p.Met1492=) c.4285A= (p.Met1429=) c.2689A= (p.Met897=) n.4825A= | |
| 6 | g.52025262C>A | CA450614427 | PKHD1 | c.4548G>T (p.Pro1516=) c.4102-196G>T (n.4102-196G>T) c.3837G>T (p.Pro1279=) c.4473G>T (p.Pro1491=) c.4284G>T (p.Pro1428=) c.2688G>T (p.Pro896=) n.4824G>T | |
| 6 | g.52025262C= | CA1628647450 | PKHD1 | c.4548G= (p.Pro1516=) c.4102-196G= (n.4102-196G=) c.3837G= (p.Pro1279=) c.4473G= (p.Pro1491=) c.4284G= (p.Pro1428=) c.2688G= (p.Pro896=) n.4824G= | |
| 6 | g.52025262C>G | CA450614428 | PKHD1 | c.4548G>C (p.Pro1516=) c.4102-196G>C (n.4102-196G>C) c.3837G>C (p.Pro1279=) c.4473G>C (p.Pro1491=) c.4284G>C (p.Pro1428=) c.2688G>C (p.Pro896=) n.4824G>C | ClinVar dbSNP |
| 6 | g.52025262C>T | CA3852702 | PKHD1 | c.4548G>A (p.Pro1516=) c.4102-196G>A (n.4102-196G>A) c.3837G>A (p.Pro1279=) c.4473G>A (p.Pro1491=) c.4284G>A (p.Pro1428=) c.2688G>A (p.Pro896=) n.4824G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52025263G>A | CA3852703 | PKHD1 | c.4547C>T (p.Pro1516Leu) c.4102-197C>T (n.4102-197C>T) c.3836C>T (p.Pro1279Leu) c.4472C>T (p.Pro1491Leu) c.4283C>T (p.Pro1428Leu) c.2687C>T (p.Pro896Leu) n.4823C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52025263G>C | CA364432511 | PKHD1 | c.4547C>G (p.Pro1516Arg) c.4102-197C>G (n.4102-197C>G) c.3836C>G (p.Pro1279Arg) c.4472C>G (p.Pro1491Arg) c.4283C>G (p.Pro1428Arg) c.2687C>G (p.Pro896Arg) n.4823C>G | gnomAD v4 |
| 6 | g.52025263G= | CA1628647453 | PKHD1 | c.4547C= (p.Pro1516=) c.4102-197C= (n.4102-197C=) c.3836C= (p.Pro1279=) c.4472C= (p.Pro1491=) c.4283C= (p.Pro1428=) c.2687C= (p.Pro896=) n.4823C= | |
| 6 | g.52025263G>T | CA364432513 | PKHD1 | c.4547C>A (p.Pro1516Gln) c.4102-197C>A (n.4102-197C>A) c.3836C>A (p.Pro1279Gln) c.4472C>A (p.Pro1491Gln) c.4283C>A (p.Pro1428Gln) c.2687C>A (p.Pro896Gln) n.4823C>A | dbSNP |
| 6 | g.52025264G>A | CA364432520 | PKHD1 | c.4546C>T (p.Pro1516Ser) c.4102-198C>T (n.4102-198C>T) c.3835C>T (p.Pro1279Ser) c.4471C>T (p.Pro1491Ser) c.4282C>T (p.Pro1428Ser) c.2686C>T (p.Pro896Ser) n.4822C>T | |
| 6 | g.52025264G>C | CA364432518 | PKHD1 | c.4546C>G (p.Pro1516Ala) c.4102-198C>G (n.4102-198C>G) c.3835C>G (p.Pro1279Ala) c.4471C>G (p.Pro1491Ala) c.4282C>G (p.Pro1428Ala) c.2686C>G (p.Pro896Ala) n.4822C>G | |
| 6 | g.52025264G>T | CA364432516 | PKHD1 | c.4546C>A (p.Pro1516Thr) c.4102-198C>A (n.4102-198C>A) c.3835C>A (p.Pro1279Thr) c.4471C>A (p.Pro1491Thr) c.4282C>A (p.Pro1428Thr) c.2686C>A (p.Pro896Thr) n.4822C>A | |
| 6 | g.52025265C>A | CA364432521 | PKHD1 | c.4545G>T (p.Glu1515Asp) c.4102-199G>T (n.4102-199G>T) c.3834G>T (p.Glu1278Asp) c.4470G>T (p.Glu1490Asp) c.4281G>T (p.Glu1427Asp) c.2685G>T (p.Glu895Asp) n.4821G>T | |
| 6 | g.52025265C>G | CA364432523 | PKHD1 | c.4545G>C (p.Glu1515Asp) c.4102-199G>C (n.4102-199G>C) c.3834G>C (p.Glu1278Asp) c.4470G>C (p.Glu1490Asp) c.4281G>C (p.Glu1427Asp) c.2685G>C (p.Glu895Asp) n.4821G>C | |
| 6 | g.52025265C>T | CA450614430 | PKHD1 | c.4545G>A (p.Glu1515=) c.4102-199G>A (n.4102-199G>A) c.3834G>A (p.Glu1278=) c.4470G>A (p.Glu1490=) c.4281G>A (p.Glu1427=) c.2685G>A (p.Glu895=) n.4821G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.52025266T>A | CA364432525 | PKHD1 | c.4544A>T (p.Glu1515Val) c.4102-200A>T (n.4102-200A>T) c.3833A>T (p.Glu1278Val) c.4469A>T (p.Glu1490Val) c.4280A>T (p.Glu1427Val) c.2684A>T (p.Glu895Val) n.4820A>T | |
| 6 | g.52025266T>C | CA364432527 | PKHD1 | c.4544A>G (p.Glu1515Gly) c.4102-200A>G (n.4102-200A>G) c.3833A>G (p.Glu1278Gly) c.4469A>G (p.Glu1490Gly) c.4280A>G (p.Glu1427Gly) c.2684A>G (p.Glu895Gly) n.4820A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025266T>G | CA364432530 | PKHD1 | c.4544A>C (p.Glu1515Ala) c.4102-200A>C (n.4102-200A>C) c.3833A>C (p.Glu1278Ala) c.4469A>C (p.Glu1490Ala) c.4280A>C (p.Glu1427Ala) c.2684A>C (p.Glu895Ala) n.4820A>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025266T= | CA1628647457 | PKHD1 | c.4544A= (p.Glu1515=) c.4102-200A= (n.4102-200A=) c.3833A= (p.Glu1278=) c.4469A= (p.Glu1490=) c.4280A= (p.Glu1427=) c.2684A= (p.Glu895=) n.4820A= | |
| 6 | g.52025267C>A | CA364432533 | PKHD1 | c.4543G>T (p.Glu1515Ter) c.4102-201G>T (n.4102-201G>T) c.3832G>T (p.Glu1278Ter) c.4468G>T (p.Glu1490Ter) c.4279G>T (p.Glu1427Ter) c.2683G>T (p.Glu895Ter) n.4819G>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.52025267C= | CA1628647465 | PKHD1 | c.4543G= (p.Glu1515=) c.4102-201G= (n.4102-201G=) c.3832G= (p.Glu1278=) c.4468G= (p.Glu1490=) c.4279G= (p.Glu1427=) c.2683G= (p.Glu895=) n.4819G= | |
| 6 | g.52025267C>G | CA364432534 | PKHD1 | c.4543G>C (p.Glu1515Gln) c.4102-201G>C (n.4102-201G>C) c.3832G>C (p.Glu1278Gln) c.4468G>C (p.Glu1490Gln) c.4279G>C (p.Glu1427Gln) c.2683G>C (p.Glu895Gln) n.4819G>C | |
| 6 | g.52025267C>T | CA364432535 | PKHD1 | c.4543G>A (p.Glu1515Lys) c.4102-201G>A (n.4102-201G>A) c.3832G>A (p.Glu1278Lys) c.4468G>A (p.Glu1490Lys) c.4279G>A (p.Glu1427Lys) c.2683G>A (p.Glu895Lys) n.4819G>A | dbSNP gnomAD v2 gnomAD v4 |