| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52024977C>A | CA364431143 | PKHD1 | c.4833G>T (p.Gln1611His) c.4191G>T (p.Gln1397His) c.4122G>T (p.Gln1374His) c.4758G>T (p.Gln1586His) c.4569G>T (p.Gln1523His) c.2973G>T (p.Gln991His) n.5109G>T | COSMIC COSMIC |
| 6 | g.52024977C>G | CA364431144 | PKHD1 | c.4833G>C (p.Gln1611His) c.4191G>C (p.Gln1397His) c.4122G>C (p.Gln1374His) c.4758G>C (p.Gln1586His) c.4569G>C (p.Gln1523His) c.2973G>C (p.Gln991His) n.5109G>C | |
| 6 | g.52024977C>T | CA450614039 | PKHD1 | c.4833G>A (p.Gln1611=) c.4191G>A (p.Gln1397=) c.4122G>A (p.Gln1374=) c.4758G>A (p.Gln1586=) c.4569G>A (p.Gln1523=) c.2973G>A (p.Gln991=) n.5109G>A | |
| 6 | g.52024978T>A | CA364431146 | PKHD1 | c.4832A>T (p.Gln1611Leu) c.4190A>T (p.Gln1397Leu) c.4121A>T (p.Gln1374Leu) c.4757A>T (p.Gln1586Leu) c.4568A>T (p.Gln1523Leu) c.2972A>T (p.Gln991Leu) n.5108A>T | |
| 6 | g.52024978T>C | CA364431163 | PKHD1 | c.4832A>G (p.Gln1611Arg) c.4190A>G (p.Gln1397Arg) c.4121A>G (p.Gln1374Arg) c.4757A>G (p.Gln1586Arg) c.4568A>G (p.Gln1523Arg) c.2972A>G (p.Gln991Arg) n.5108A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52024978T>G | CA364431157 | PKHD1 | c.4832A>C (p.Gln1611Pro) c.4190A>C (p.Gln1397Pro) c.4121A>C (p.Gln1374Pro) c.4757A>C (p.Gln1586Pro) c.4568A>C (p.Gln1523Pro) c.2972A>C (p.Gln991Pro) n.5108A>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52024978T= | CA1628646983 | PKHD1 | c.4832A= (p.Gln1611=) c.4190A= (p.Gln1397=) c.4121A= (p.Gln1374=) c.4757A= (p.Gln1586=) c.4568A= (p.Gln1523=) c.2972A= (p.Gln991=) n.5108A= | |
| 6 | g.52024979G>A | CA364431166 | PKHD1 | c.4831C>T (p.Gln1611Ter) c.4189C>T (p.Gln1397Ter) c.4120C>T (p.Gln1374Ter) c.4756C>T (p.Gln1586Ter) c.4567C>T (p.Gln1523Ter) c.2971C>T (p.Gln991Ter) n.5107C>T | |
| 6 | g.52024979G>C | CA364431171 | PKHD1 | c.4831C>G (p.Gln1611Glu) c.4189C>G (p.Gln1397Glu) c.4120C>G (p.Gln1374Glu) c.4756C>G (p.Gln1586Glu) c.4567C>G (p.Gln1523Glu) c.2971C>G (p.Gln991Glu) n.5107C>G | |
| 6 | g.52024979G= | CA1628646987 | PKHD1 | c.4831C= (p.Gln1611=) c.4189C= (p.Gln1397=) c.4120C= (p.Gln1374=) c.4756C= (p.Gln1586=) c.4567C= (p.Gln1523=) c.2971C= (p.Gln991=) n.5107C= | |
| 6 | g.52024979G>T | CA3852663 | PKHD1 | c.4831C>A (p.Gln1611Lys) c.4189C>A (p.Gln1397Lys) c.4120C>A (p.Gln1374Lys) c.4756C>A (p.Gln1586Lys) c.4567C>A (p.Gln1523Lys) c.2971C>A (p.Gln991Lys) n.5107C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.52024980C>A | CA364431175 | PKHD1 | c.4830G>T (p.Gln1610His) c.4188G>T (p.Gln1396His) c.4119G>T (p.Gln1373His) c.4755G>T (p.Gln1585His) c.4566G>T (p.Gln1522His) c.2970G>T (p.Gln990His) n.5106G>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52024980C= | CA1628646990 | PKHD1 | c.4830G= (p.Gln1610=) c.4188G= (p.Gln1396=) c.4119G= (p.Gln1373=) c.4755G= (p.Gln1585=) c.4566G= (p.Gln1522=) c.2970G= (p.Gln990=) n.5106G= | |
| 6 | g.52024980C>G | CA364431177 | PKHD1 | c.4830G>C (p.Gln1610His) c.4188G>C (p.Gln1396His) c.4119G>C (p.Gln1373His) c.4755G>C (p.Gln1585His) c.4566G>C (p.Gln1522His) c.2970G>C (p.Gln990His) n.5106G>C | |
| 6 | g.52024980C>T | CA450614043 | PKHD1 | c.4830G>A (p.Gln1610=) c.4188G>A (p.Gln1396=) c.4119G>A (p.Gln1373=) c.4755G>A (p.Gln1585=) c.4566G>A (p.Gln1522=) c.2970G>A (p.Gln990=) n.5106G>A | |
| 6 | g.52024981T>A | CA364431179 | PKHD1 | c.4829A>T (p.Gln1610Leu) c.4187A>T (p.Gln1396Leu) c.4118A>T (p.Gln1373Leu) c.4754A>T (p.Gln1585Leu) c.4565A>T (p.Gln1522Leu) c.2969A>T (p.Gln990Leu) n.5105A>T | |
| 6 | g.52024981T>C | CA364431181 | PKHD1 | c.4829A>G (p.Gln1610Arg) c.4187A>G (p.Gln1396Arg) c.4118A>G (p.Gln1373Arg) c.4754A>G (p.Gln1585Arg) c.4565A>G (p.Gln1522Arg) c.2969A>G (p.Gln990Arg) n.5105A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52024981T>G | CA364431183 | PKHD1 | c.4829A>C (p.Gln1610Pro) c.4187A>C (p.Gln1396Pro) c.4118A>C (p.Gln1373Pro) c.4754A>C (p.Gln1585Pro) c.4565A>C (p.Gln1522Pro) c.2969A>C (p.Gln990Pro) n.5105A>C | |
| 6 | g.52024981T= | CA1628646991 | PKHD1 | c.4829A= (p.Gln1610=) c.4187A= (p.Gln1396=) c.4118A= (p.Gln1373=) c.4754A= (p.Gln1585=) c.4565A= (p.Gln1522=) c.2969A= (p.Gln990=) n.5105A= | |
| 6 | g.52024982G>A | CA138946405 | PKHD1 | c.4828C>T (p.Gln1610Ter) c.4186C>T (p.Gln1396Ter) c.4117C>T (p.Gln1373Ter) c.4753C>T (p.Gln1585Ter) c.4564C>T (p.Gln1522Ter) c.2968C>T (p.Gln990Ter) n.5104C>T | dbSNP |
| 6 | g.52024982G>C | CA364431187 | PKHD1 | c.4828C>G (p.Gln1610Glu) c.4186C>G (p.Gln1396Glu) c.4117C>G (p.Gln1373Glu) c.4753C>G (p.Gln1585Glu) c.4564C>G (p.Gln1522Glu) c.2968C>G (p.Gln990Glu) n.5104C>G | |
| 6 | g.52024982G= | CA1628646996 | PKHD1 | c.4828C= (p.Gln1610=) c.4186C= (p.Gln1396=) c.4117C= (p.Gln1373=) c.4753C= (p.Gln1585=) c.4564C= (p.Gln1522=) c.2968C= (p.Gln990=) n.5104C= | |
| 6 | g.52024982G>T | CA3852664 | PKHD1 | c.4828C>A (p.Gln1610Lys) c.4186C>A (p.Gln1396Lys) c.4117C>A (p.Gln1373Lys) c.4753C>A (p.Gln1585Lys) c.4564C>A (p.Gln1522Lys) c.2968C>A (p.Gln990Lys) n.5104C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52024983G>A | CA450614046 | PKHD1 | c.4827C>T (p.Asp1609=) c.4185C>T (p.Asp1395=) c.4116C>T (p.Asp1372=) c.4752C>T (p.Asp1584=) c.4563C>T (p.Asp1521=) c.2967C>T (p.Asp989=) n.5103C>T | ClinVar |
| 6 | g.52024983G>C | CA364431190 | PKHD1 | c.4827C>G (p.Asp1609Glu) c.4185C>G (p.Asp1395Glu) c.4116C>G (p.Asp1372Glu) c.4752C>G (p.Asp1584Glu) c.4563C>G (p.Asp1521Glu) c.2967C>G (p.Asp989Glu) n.5103C>G | |
| 6 | g.52024983G>T | CA364431191 | PKHD1 | c.4827C>A (p.Asp1609Glu) c.4185C>A (p.Asp1395Glu) c.4116C>A (p.Asp1372Glu) c.4752C>A (p.Asp1584Glu) c.4563C>A (p.Asp1521Glu) c.2967C>A (p.Asp989Glu) n.5103C>A | |
| 6 | g.52024984T>A | CA364431194 | PKHD1 | c.4826A>T (p.Asp1609Val) c.4184A>T (p.Asp1395Val) c.4115A>T (p.Asp1372Val) c.4751A>T (p.Asp1584Val) c.4562A>T (p.Asp1521Val) c.2966A>T (p.Asp989Val) n.5102A>T | |
| 6 | g.52024984T>C | CA364431195 | PKHD1 | c.4826A>G (p.Asp1609Gly) c.4184A>G (p.Asp1395Gly) c.4115A>G (p.Asp1372Gly) c.4751A>G (p.Asp1584Gly) c.4562A>G (p.Asp1521Gly) c.2966A>G (p.Asp989Gly) n.5102A>G | |
| 6 | g.52024984T>G | CA364431196 | PKHD1 | c.4826A>C (p.Asp1609Ala) c.4184A>C (p.Asp1395Ala) c.4115A>C (p.Asp1372Ala) c.4751A>C (p.Asp1584Ala) c.4562A>C (p.Asp1521Ala) c.2966A>C (p.Asp989Ala) n.5102A>C | gnomAD v4 |
| 6 | g.52024985C>A | CA364431198 | PKHD1 | c.4825G>T (p.Asp1609Tyr) c.4183G>T (p.Asp1395Tyr) c.4114G>T (p.Asp1372Tyr) c.4750G>T (p.Asp1584Tyr) c.4561G>T (p.Asp1521Tyr) c.2965G>T (p.Asp989Tyr) n.5101G>T | |
| 6 | g.52024985C>G | CA364431202 | PKHD1 | c.4825G>C (p.Asp1609His) c.4183G>C (p.Asp1395His) c.4114G>C (p.Asp1372His) c.4750G>C (p.Asp1584His) c.4561G>C (p.Asp1521His) c.2965G>C (p.Asp989His) n.5101G>C | |
| 6 | g.52024985C>T | CA364431201 | PKHD1 | c.4825G>A (p.Asp1609Asn) c.4183G>A (p.Asp1395Asn) c.4114G>A (p.Asp1372Asn) c.4750G>A (p.Asp1584Asn) c.4561G>A (p.Asp1521Asn) c.2965G>A (p.Asp989Asn) n.5101G>A | |
| 6 | g.52024986A>C | CA364431203 | PKHD1 | c.4824T>G (p.Ile1608Met) c.4182T>G (p.Ile1394Met) c.4113T>G (p.Ile1371Met) c.4749T>G (p.Ile1583Met) c.4560T>G (p.Ile1520Met) c.2964T>G (p.Ile988Met) n.5100T>G | |
| 6 | g.52024986A>G | CA450614047 | PKHD1 | c.4824T>C (p.Ile1608=) c.4182T>C (p.Ile1394=) c.4113T>C (p.Ile1371=) c.4749T>C (p.Ile1583=) c.4560T>C (p.Ile1520=) c.2964T>C (p.Ile988=) n.5100T>C | |
| 6 | g.52024986A>T | CA450614048 | PKHD1 | c.4824T>A (p.Ile1608=) c.4182T>A (p.Ile1394=) c.4113T>A (p.Ile1371=) c.4749T>A (p.Ile1583=) c.4560T>A (p.Ile1520=) c.2964T>A (p.Ile988=) n.5100T>A | |
| 6 | g.52024986_52024988delinsAAT | CA1628646999 | PKHD1 | c.4822_4824delinsATT (p.Ile1608=) c.4180_4182delinsATT (p.Ile1394=) c.4111_4113delinsATT (p.Ile1371=) c.4747_4749delinsATT (p.Ile1583=) c.4558_4560delinsATT (p.Ile1520=) c.2962_2964delinsATT (p.Ile988=) n.5098_5100delinsATT | |
| 6 | g.52024987A>C | CA364431206 | PKHD1 | c.4823T>G (p.Ile1608Ser) c.4181T>G (p.Ile1394Ser) c.4112T>G (p.Ile1371Ser) c.4748T>G (p.Ile1583Ser) c.4559T>G (p.Ile1520Ser) c.2963T>G (p.Ile988Ser) n.5099T>G | |
| 6 | g.52024987A>G | CA364431208 | PKHD1 | c.4823T>C (p.Ile1608Thr) c.4181T>C (p.Ile1394Thr) c.4112T>C (p.Ile1371Thr) c.4748T>C (p.Ile1583Thr) c.4559T>C (p.Ile1520Thr) c.2963T>C (p.Ile988Thr) n.5099T>C | |
| 6 | g.52024987A>T | CA364431210 | PKHD1 | c.4823T>A (p.Ile1608Asn) c.4181T>A (p.Ile1394Asn) c.4112T>A (p.Ile1371Asn) c.4748T>A (p.Ile1583Asn) c.4559T>A (p.Ile1520Asn) c.2963T>A (p.Ile988Asn) n.5099T>A | |
| 6 | g.52024990_52024991del | CA16041052 | PKHD1 | c.4822_4823del (p.Ile1608Ter) c.4180_4181del (p.Ile1394Ter) c.4111_4112del (p.Ile1371Ter) c.4747_4748del (p.Ile1583Ter) c.4558_4559del (p.Ile1520Ter) c.2962_2963del (p.Ile988Ter) n.5098_5099del | ClinVar dbSNP gnomAD v4 |
| 6 | g.52024988T>A | CA364431218 | PKHD1 | c.4822A>T (p.Ile1608Phe) c.4180A>T (p.Ile1394Phe) c.4111A>T (p.Ile1371Phe) c.4747A>T (p.Ile1583Phe) c.4558A>T (p.Ile1520Phe) c.2962A>T (p.Ile988Phe) n.5098A>T | gnomAD v4 |
| 6 | g.52024988T>C | CA364431220 | PKHD1 | c.4822A>G (p.Ile1608Val) c.4180A>G (p.Ile1394Val) c.4111A>G (p.Ile1371Val) c.4747A>G (p.Ile1583Val) c.4558A>G (p.Ile1520Val) c.2962A>G (p.Ile988Val) n.5098A>G | gnomAD v4 |
| 6 | g.52024988T>G | CA364431226 | PKHD1 | c.4822A>C (p.Ile1608Leu) c.4180A>C (p.Ile1394Leu) c.4111A>C (p.Ile1371Leu) c.4747A>C (p.Ile1583Leu) c.4558A>C (p.Ile1520Leu) c.2962A>C (p.Ile988Leu) n.5098A>C | |
| 6 | g.52024989A>C | CA364431228 | PKHD1 | c.4821T>G (p.Tyr1607Ter) c.4179T>G (p.Tyr1393Ter) c.4110T>G (p.Tyr1370Ter) c.4746T>G (p.Tyr1582Ter) c.4557T>G (p.Tyr1519Ter) c.2961T>G (p.Tyr987Ter) n.5097T>G | |
| 6 | g.52024989A>G | CA450614054 | PKHD1 | c.4821T>C (p.Tyr1607=) c.4179T>C (p.Tyr1393=) c.4110T>C (p.Tyr1370=) c.4746T>C (p.Tyr1582=) c.4557T>C (p.Tyr1519=) c.2961T>C (p.Tyr987=) n.5097T>C | |
| 6 | g.52024989A>T | CA364431230 | PKHD1 | c.4821T>A (p.Tyr1607Ter) c.4179T>A (p.Tyr1393Ter) c.4110T>A (p.Tyr1370Ter) c.4746T>A (p.Tyr1582Ter) c.4557T>A (p.Tyr1519Ter) c.2961T>A (p.Tyr987Ter) n.5097T>A | |
| 6 | g.52024990T>A | CA364431235 | PKHD1 | c.4820A>T (p.Tyr1607Phe) c.4178A>T (p.Tyr1393Phe) c.4109A>T (p.Tyr1370Phe) c.4745A>T (p.Tyr1582Phe) c.4556A>T (p.Tyr1519Phe) c.2960A>T (p.Tyr987Phe) n.5096A>T | |
| 6 | g.52024990T>C | CA3852665 | PKHD1 | c.4820A>G (p.Tyr1607Cys) c.4178A>G (p.Tyr1393Cys) c.4109A>G (p.Tyr1370Cys) c.4745A>G (p.Tyr1582Cys) c.4556A>G (p.Tyr1519Cys) c.2960A>G (p.Tyr987Cys) n.5096A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52024990T>G | CA364431233 | PKHD1 | c.4820A>C (p.Tyr1607Ser) c.4178A>C (p.Tyr1393Ser) c.4109A>C (p.Tyr1370Ser) c.4745A>C (p.Tyr1582Ser) c.4556A>C (p.Tyr1519Ser) c.2960A>C (p.Tyr987Ser) n.5096A>C | |
| 6 | g.52024990T= | CA1628647007 | PKHD1 | c.4820A= (p.Tyr1607=) c.4178A= (p.Tyr1393=) c.4109A= (p.Tyr1370=) c.4745A= (p.Tyr1582=) c.4556A= (p.Tyr1519=) c.2960A= (p.Tyr987=) n.5096A= |