Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.52025225_52025236del | CA658823232 | PKHD1 | c.4577_4588del (p.Cys1526_Thr1529del) c.4102-167_4102-156del (n.4102-167_4102-156del) c.3866_3877del (p.Cys1289_Thr1292del) c.4502_4513del (p.Cys1501_Thr1504del) c.4313_4324del (p.Cys1438_Thr1441del) c.2717_2728del (p.Cys906_Thr909del) n.4853_4864del | ClinVar dbSNP |
6 | g.52025235_52025236delinsAG | CA1628647398 | PKHD1 | c.4574_4575delinsCT (p.Pro1525=) c.4102-170_4102-169delinsCT (n.4102-170_4102-169delinsCT) c.3863_3864delinsCT (p.Pro1288=) c.4499_4500delinsCT (p.Pro1500=) c.4310_4311delinsCT (p.Pro1437=) c.2714_2715delinsCT (p.Pro905=) n.4850_4851delinsCT | |
6 | g.52025236G>A | CA364432345 | PKHD1 | c.4574C>T (p.Pro1525Leu) c.4102-170C>T (n.4102-170C>T) c.3863C>T (p.Pro1288Leu) c.4499C>T (p.Pro1500Leu) c.4310C>T (p.Pro1437Leu) c.2714C>T (p.Pro905Leu) n.4850C>T | |
6 | g.52025236G>C | CA364432347 | PKHD1 | c.4574C>G (p.Pro1525Arg) c.4102-170C>G (n.4102-170C>G) c.3863C>G (p.Pro1288Arg) c.4499C>G (p.Pro1500Arg) c.4310C>G (p.Pro1437Arg) c.2714C>G (p.Pro905Arg) n.4850C>G | |
6 | g.52025236G>T | CA364432348 | PKHD1 | c.4574C>A (p.Pro1525His) c.4102-170C>A (n.4102-170C>A) c.3863C>A (p.Pro1288His) c.4499C>A (p.Pro1500His) c.4310C>A (p.Pro1437His) c.2714C>A (p.Pro905His) n.4850C>A | |
6 | g.52025237del | CA16041054 | PKHD1 | c.4574del (p.Pro1525LeufsTer4) c.4102-170del (n.4102-170del) c.3863del (p.Pro1288LeufsTer4) c.4499del (p.Pro1500LeufsTer4) c.4310del (p.Pro1437LeufsTer4) c.2714del (p.Pro905LeufsTer4) n.4850del | ClinVar dbSNP gnomAD v4 |
6 | g.52025237G>A | CA364432356 | PKHD1 | c.4573C>T (p.Pro1525Ser) c.4102-171C>T (n.4102-171C>T) c.3862C>T (p.Pro1288Ser) c.4498C>T (p.Pro1500Ser) c.4309C>T (p.Pro1437Ser) c.2713C>T (p.Pro905Ser) n.4849C>T | COSMIC COSMIC |
6 | g.52025237G>C | CA364432361 | PKHD1 | c.4573C>G (p.Pro1525Ala) c.4102-171C>G (n.4102-171C>G) c.3862C>G (p.Pro1288Ala) c.4498C>G (p.Pro1500Ala) c.4309C>G (p.Pro1437Ala) c.2713C>G (p.Pro905Ala) n.4849C>G | |
6 | g.52025237G>T | CA364432358 | PKHD1 | c.4573C>A (p.Pro1525Thr) c.4102-171C>A (n.4102-171C>A) c.3862C>A (p.Pro1288Thr) c.4498C>A (p.Pro1500Thr) c.4309C>A (p.Pro1437Thr) c.2713C>A (p.Pro905Thr) n.4849C>A | |
6 | g.52025238A= | CA1628647402 | PKHD1 | c.4572T= (p.Leu1524=) c.4102-172T= (n.4102-172T=) c.3861T= (p.Leu1287=) c.4497T= (p.Leu1499=) c.4308T= (p.Leu1436=) c.2712T= (p.Leu904=) n.4848T= | |
6 | g.52025238A>C | CA138946719 | PKHD1 | c.4572T>G (p.Leu1524=) c.4102-172T>G (n.4102-172T>G) c.3861T>G (p.Leu1287=) c.4497T>G (p.Leu1499=) c.4308T>G (p.Leu1436=) c.2712T>G (p.Leu904=) n.4848T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.52025238A>G | CA138946723 | PKHD1 | c.4572T>C (p.Leu1524=) c.4102-172T>C (n.4102-172T>C) c.3861T>C (p.Leu1287=) c.4497T>C (p.Leu1499=) c.4308T>C (p.Leu1436=) c.2712T>C (p.Leu904=) n.4848T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52025238A>T | CA450614394 | PKHD1 | c.4572T>A (p.Leu1524=) c.4102-172T>A (n.4102-172T>A) c.3861T>A (p.Leu1287=) c.4497T>A (p.Leu1499=) c.4308T>A (p.Leu1436=) c.2712T>A (p.Leu904=) n.4848T>A | |
6 | g.52025239del | CA2578645392 | PKHD1 | c.4572del (p.Pro1525LeufsTer4) c.4102-172del (n.4102-172del) c.3861del (p.Pro1288LeufsTer4) c.4497del (p.Pro1500LeufsTer4) c.4308del (p.Pro1437LeufsTer4) c.2712del (p.Pro905LeufsTer4) n.4848del | |
6 | g.52025239A= | CA1628647407 | PKHD1 | c.4571T= (p.Leu1524=) c.4102-173T= (n.4102-173T=) c.3860T= (p.Leu1287=) c.4496T= (p.Leu1499=) c.4307T= (p.Leu1436=) c.2711T= (p.Leu904=) n.4847T= | |
6 | g.52025239A>C | CA3852698 | PKHD1 | c.4571T>G (p.Leu1524Arg) c.4102-173T>G (n.4102-173T>G) c.3860T>G (p.Leu1287Arg) c.4496T>G (p.Leu1499Arg) c.4307T>G (p.Leu1436Arg) c.2711T>G (p.Leu904Arg) n.4847T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52025239A>G | CA364432366 | PKHD1 | c.4571T>C (p.Leu1524Pro) c.4102-173T>C (n.4102-173T>C) c.3860T>C (p.Leu1287Pro) c.4496T>C (p.Leu1499Pro) c.4307T>C (p.Leu1436Pro) c.2711T>C (p.Leu904Pro) n.4847T>C | |
6 | g.52025239A>T | CA364432368 | PKHD1 | c.4571T>A (p.Leu1524His) c.4102-173T>A (n.4102-173T>A) c.3860T>A (p.Leu1287His) c.4496T>A (p.Leu1499His) c.4307T>A (p.Leu1436His) c.2711T>A (p.Leu904His) n.4847T>A | |
6 | g.52025240G>A | CA364432372 | PKHD1 | c.4570C>T (p.Leu1524Phe) c.4102-174C>T (n.4102-174C>T) c.3859C>T (p.Leu1287Phe) c.4495C>T (p.Leu1499Phe) c.4306C>T (p.Leu1436Phe) c.2710C>T (p.Leu904Phe) n.4846C>T | |
6 | g.52025240G>C | CA364432376 | PKHD1 | c.4570C>G (p.Leu1524Val) c.4102-174C>G (n.4102-174C>G) c.3859C>G (p.Leu1287Val) c.4495C>G (p.Leu1499Val) c.4306C>G (p.Leu1436Val) c.2710C>G (p.Leu904Val) n.4846C>G | |
6 | g.52025240G>T | CA364432374 | PKHD1 | c.4570C>A (p.Leu1524Ile) c.4102-174C>A (n.4102-174C>A) c.3859C>A (p.Leu1287Ile) c.4495C>A (p.Leu1499Ile) c.4306C>A (p.Leu1436Ile) c.2710C>A (p.Leu904Ile) n.4846C>A | |
6 | g.52025241T>A | CA364432378 | PKHD1 | c.4569A>T (p.Gln1523His) c.4102-175A>T (n.4102-175A>T) c.3858A>T (p.Gln1286His) c.4494A>T (p.Gln1498His) c.4305A>T (p.Gln1435His) c.2709A>T (p.Gln903His) n.4845A>T | |
6 | g.52025241T>C | CA450614397 | PKHD1 | c.4569A>G (p.Gln1523=) c.4102-175A>G (n.4102-175A>G) c.3858A>G (p.Gln1286=) c.4494A>G (p.Gln1498=) c.4305A>G (p.Gln1435=) c.2709A>G (p.Gln903=) n.4845A>G | |
6 | g.52025241T>G | CA364432380 | PKHD1 | c.4569A>C (p.Gln1523His) c.4102-175A>C (n.4102-175A>C) c.3858A>C (p.Gln1286His) c.4494A>C (p.Gln1498His) c.4305A>C (p.Gln1435His) c.2709A>C (p.Gln903His) n.4845A>C | |
6 | g.52025242T>A | CA364432384 | PKHD1 | c.4568A>T (p.Gln1523Leu) c.4102-176A>T (n.4102-176A>T) c.3857A>T (p.Gln1286Leu) c.4493A>T (p.Gln1498Leu) c.4304A>T (p.Gln1435Leu) c.2708A>T (p.Gln903Leu) n.4844A>T | |
6 | g.52025242T>C | CA364432386 | PKHD1 | c.4568A>G (p.Gln1523Arg) c.4102-176A>G (n.4102-176A>G) c.3857A>G (p.Gln1286Arg) c.4493A>G (p.Gln1498Arg) c.4304A>G (p.Gln1435Arg) c.2708A>G (p.Gln903Arg) n.4844A>G | dbSNP |
6 | g.52025242T>G | CA364432388 | PKHD1 | c.4568A>C (p.Gln1523Pro) c.4102-176A>C (n.4102-176A>C) c.3857A>C (p.Gln1286Pro) c.4493A>C (p.Gln1498Pro) c.4304A>C (p.Gln1435Pro) c.2708A>C (p.Gln903Pro) n.4844A>C | |
6 | g.52025242T= | CA1628647409 | PKHD1 | c.4568A= (p.Gln1523=) c.4102-176A= (n.4102-176A=) c.3857A= (p.Gln1286=) c.4493A= (p.Gln1498=) c.4304A= (p.Gln1435=) c.2708A= (p.Gln903=) n.4844A= | |
6 | g.52025243G>A | CA364432390 | PKHD1 | c.4567C>T (p.Gln1523Ter) c.4102-177C>T (n.4102-177C>T) c.3856C>T (p.Gln1286Ter) c.4492C>T (p.Gln1498Ter) c.4303C>T (p.Gln1435Ter) c.2707C>T (p.Gln903Ter) n.4843C>T | |
6 | g.52025243G>C | CA364432393 | PKHD1 | c.4567C>G (p.Gln1523Glu) c.4102-177C>G (n.4102-177C>G) c.3856C>G (p.Gln1286Glu) c.4492C>G (p.Gln1498Glu) c.4303C>G (p.Gln1435Glu) c.2707C>G (p.Gln903Glu) n.4843C>G | |
6 | g.52025243G>T | CA364432395 | PKHD1 | c.4567C>A (p.Gln1523Lys) c.4102-177C>A (n.4102-177C>A) c.3856C>A (p.Gln1286Lys) c.4492C>A (p.Gln1498Lys) c.4303C>A (p.Gln1435Lys) c.2707C>A (p.Gln903Lys) n.4843C>A | |
6 | g.52025244A>C | CA364432407 | PKHD1 | c.4566T>G (p.Asp1522Glu) c.4102-178T>G (n.4102-178T>G) c.3855T>G (p.Asp1285Glu) c.4491T>G (p.Asp1497Glu) c.4302T>G (p.Asp1434Glu) c.2706T>G (p.Asp902Glu) n.4842T>G | |
6 | g.52025244A>G | CA450614401 | PKHD1 | c.4566T>C (p.Asp1522=) c.4102-178T>C (n.4102-178T>C) c.3855T>C (p.Asp1285=) c.4491T>C (p.Asp1497=) c.4302T>C (p.Asp1434=) c.2706T>C (p.Asp902=) n.4842T>C | |
6 | g.52025244A>T | CA364432408 | PKHD1 | c.4566T>A (p.Asp1522Glu) c.4102-178T>A (n.4102-178T>A) c.3855T>A (p.Asp1285Glu) c.4491T>A (p.Asp1497Glu) c.4302T>A (p.Asp1434Glu) c.2706T>A (p.Asp902Glu) n.4842T>A | gnomAD v4 |
6 | g.52025245T>A | CA364432410 | PKHD1 | c.4565A>T (p.Asp1522Val) c.4102-179A>T (n.4102-179A>T) c.3854A>T (p.Asp1285Val) c.4490A>T (p.Asp1497Val) c.4301A>T (p.Asp1434Val) c.2705A>T (p.Asp902Val) n.4841A>T | |
6 | g.52025245T>C | CA364432413 | PKHD1 | c.4565A>G (p.Asp1522Gly) c.4102-179A>G (n.4102-179A>G) c.3854A>G (p.Asp1285Gly) c.4490A>G (p.Asp1497Gly) c.4301A>G (p.Asp1434Gly) c.2705A>G (p.Asp902Gly) n.4841A>G | |
6 | g.52025245T>G | CA364432411 | PKHD1 | c.4565A>C (p.Asp1522Ala) c.4102-179A>C (n.4102-179A>C) c.3854A>C (p.Asp1285Ala) c.4490A>C (p.Asp1497Ala) c.4301A>C (p.Asp1434Ala) c.2705A>C (p.Asp902Ala) n.4841A>C | |
6 | g.52025246C>A | CA364432415 | PKHD1 | c.4564G>T (p.Asp1522Tyr) c.4102-180G>T (n.4102-180G>T) c.3853G>T (p.Asp1285Tyr) c.4489G>T (p.Asp1497Tyr) c.4300G>T (p.Asp1434Tyr) c.2704G>T (p.Asp902Tyr) n.4840G>T | |
6 | g.52025246C>G | CA364432419 | PKHD1 | c.4564G>C (p.Asp1522His) c.4102-180G>C (n.4102-180G>C) c.3853G>C (p.Asp1285His) c.4489G>C (p.Asp1497His) c.4300G>C (p.Asp1434His) c.2704G>C (p.Asp902His) n.4840G>C | |
6 | g.52025246C>T | CA364432417 | PKHD1 | c.4564G>A (p.Asp1522Asn) c.4102-180G>A (n.4102-180G>A) c.3853G>A (p.Asp1285Asn) c.4489G>A (p.Asp1497Asn) c.4300G>A (p.Asp1434Asn) c.2704G>A (p.Asp902Asn) n.4840G>A | |
6 | g.52025247A>C | CA364432421 | PKHD1 | c.4563T>G (p.Asp1521Glu) c.4102-181T>G (n.4102-181T>G) c.3852T>G (p.Asp1284Glu) c.4488T>G (p.Asp1496Glu) c.4299T>G (p.Asp1433Glu) c.2703T>G (p.Asp901Glu) n.4839T>G | |
6 | g.52025247A>G | CA450614404 | PKHD1 | c.4563T>C (p.Asp1521=) c.4102-181T>C (n.4102-181T>C) c.3852T>C (p.Asp1284=) c.4488T>C (p.Asp1496=) c.4299T>C (p.Asp1433=) c.2703T>C (p.Asp901=) n.4839T>C | |
6 | g.52025247A>T | CA364432423 | PKHD1 | c.4563T>A (p.Asp1521Glu) c.4102-181T>A (n.4102-181T>A) c.3852T>A (p.Asp1284Glu) c.4488T>A (p.Asp1496Glu) c.4299T>A (p.Asp1433Glu) c.2703T>A (p.Asp901Glu) n.4839T>A | |
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 | |
6 | g.52025248T>A | CA364432426 | PKHD1 | c.4562A>T (p.Asp1521Val) c.4102-182A>T (n.4102-182A>T) c.3851A>T (p.Asp1284Val) c.4487A>T (p.Asp1496Val) c.4298A>T (p.Asp1433Val) c.2702A>T (p.Asp901Val) n.4838A>T | |
6 | g.52025248T>C | CA138946733 | PKHD1 | c.4562A>G (p.Asp1521Gly) c.4102-182A>G (n.4102-182A>G) c.3851A>G (p.Asp1284Gly) c.4487A>G (p.Asp1496Gly) c.4298A>G (p.Asp1433Gly) c.2702A>G (p.Asp901Gly) n.4838A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.52025248T>G | CA364432430 | PKHD1 | c.4562A>C (p.Asp1521Ala) c.4102-182A>C (n.4102-182A>C) c.3851A>C (p.Asp1284Ala) c.4487A>C (p.Asp1496Ala) c.4298A>C (p.Asp1433Ala) c.2702A>C (p.Asp901Ala) n.4838A>C | |
6 | g.52025248T= | CA1628647415 | PKHD1 | c.4562A= (p.Asp1521=) c.4102-182A= (n.4102-182A=) c.3851A= (p.Asp1284=) c.4487A= (p.Asp1496=) c.4298A= (p.Asp1433=) c.2702A= (p.Asp901=) n.4838A= | |
6 | g.52025249C>A | CA364432435 | PKHD1 | c.4561G>T (p.Asp1521Tyr) c.4102-183G>T (n.4102-183G>T) c.3850G>T (p.Asp1284Tyr) c.4486G>T (p.Asp1496Tyr) c.4297G>T (p.Asp1433Tyr) c.2701G>T (p.Asp901Tyr) n.4837G>T | |
6 | g.52025249C>G | CA364432436 | PKHD1 | c.4561G>C (p.Asp1521His) c.4102-183G>C (n.4102-183G>C) c.3850G>C (p.Asp1284His) c.4486G>C (p.Asp1496His) c.4297G>C (p.Asp1433His) c.2701G>C (p.Asp901His) n.4837G>C |