| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52024821_52024824del | CA2679084931 | PKHD1 | c.4987_4990del (p.Ile1663LeufsTer7) c.4345_4348del (p.Ile1449LeufsTer7) c.4276_4279del (p.Ile1426LeufsTer7) c.4912_4915del (p.Ile1638LeufsTer7) c.4723_4726del (p.Ile1575LeufsTer7) c.3127_3130del (p.Ile1043LeufsTer7) n.5263_5266del | gnomAD v4 |
| 6 | g.52024822A>C | CA364430235 | PKHD1 | c.4988T>G (p.Ile1663Ser) c.4346T>G (p.Ile1449Ser) c.4277T>G (p.Ile1426Ser) c.4913T>G (p.Ile1638Ser) c.4724T>G (p.Ile1575Ser) c.3128T>G (p.Ile1043Ser) n.5264T>G | |
| 6 | g.52024822A>G | CA364430237 | PKHD1 | c.4988T>C (p.Ile1663Thr) c.4346T>C (p.Ile1449Thr) c.4277T>C (p.Ile1426Thr) c.4913T>C (p.Ile1638Thr) c.4724T>C (p.Ile1575Thr) c.3128T>C (p.Ile1043Thr) n.5264T>C | gnomAD v4 |
| 6 | g.52024822A>T | CA364430239 | PKHD1 | c.4988T>A (p.Ile1663Asn) c.4346T>A (p.Ile1449Asn) c.4277T>A (p.Ile1426Asn) c.4913T>A (p.Ile1638Asn) c.4724T>A (p.Ile1575Asn) c.3128T>A (p.Ile1043Asn) n.5264T>A | |
| 6 | g.52024823T>A | CA364430241 | PKHD1 | c.4987A>T (p.Ile1663Phe) c.4345A>T (p.Ile1449Phe) c.4276A>T (p.Ile1426Phe) c.4912A>T (p.Ile1638Phe) c.4723A>T (p.Ile1575Phe) c.3127A>T (p.Ile1043Phe) n.5263A>T | |
| 6 | g.52024823T>C | CA364430243 | PKHD1 | c.4987A>G (p.Ile1663Val) c.4345A>G (p.Ile1449Val) c.4276A>G (p.Ile1426Val) c.4912A>G (p.Ile1638Val) c.4723A>G (p.Ile1575Val) c.3127A>G (p.Ile1043Val) n.5263A>G | |
| 6 | g.52024823T>G | CA364430245 | PKHD1 | c.4987A>C (p.Ile1663Leu) c.4345A>C (p.Ile1449Leu) c.4276A>C (p.Ile1426Leu) c.4912A>C (p.Ile1638Leu) c.4723A>C (p.Ile1575Leu) c.3127A>C (p.Ile1043Leu) n.5263A>C | |
| 6 | g.52024824A>C | CA450613878 | PKHD1 | c.4986T>G (p.Ser1662=) c.4344T>G (p.Ser1448=) c.4275T>G (p.Ser1425=) c.4911T>G (p.Ser1637=) c.4722T>G (p.Ser1574=) c.3126T>G (p.Ser1042=) n.5262T>G | |
| 6 | g.52024824A>G | CA450613879 | PKHD1 | c.4986T>C (p.Ser1662=) c.4344T>C (p.Ser1448=) c.4275T>C (p.Ser1425=) c.4911T>C (p.Ser1637=) c.4722T>C (p.Ser1574=) c.3126T>C (p.Ser1042=) n.5262T>C | |
| 6 | g.52024824A>T | CA450613880 | PKHD1 | c.4986T>A (p.Ser1662=) c.4344T>A (p.Ser1448=) c.4275T>A (p.Ser1425=) c.4911T>A (p.Ser1637=) c.4722T>A (p.Ser1574=) c.3126T>A (p.Ser1042=) n.5262T>A | COSMIC COSMIC |
| 6 | g.52024825G>A | CA364430247 | PKHD1 | c.4985C>T (p.Ser1662Phe) c.4343C>T (p.Ser1448Phe) c.4274C>T (p.Ser1425Phe) c.4910C>T (p.Ser1637Phe) c.4721C>T (p.Ser1574Phe) c.3125C>T (p.Ser1042Phe) n.5261C>T | gnomAD v4 |
| 6 | g.52024825G>C | CA364430249 | PKHD1 | c.4985C>G (p.Ser1662Cys) c.4343C>G (p.Ser1448Cys) c.4274C>G (p.Ser1425Cys) c.4910C>G (p.Ser1637Cys) c.4721C>G (p.Ser1574Cys) c.3125C>G (p.Ser1042Cys) n.5261C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52024825G= | CA1628646733 | PKHD1 | c.4985C= (p.Ser1662=) c.4343C= (p.Ser1448=) c.4274C= (p.Ser1425=) c.4910C= (p.Ser1637=) c.4721C= (p.Ser1574=) c.3125C= (p.Ser1042=) n.5261C= | |
| 6 | g.52024825G>T | CA364430251 | PKHD1 | c.4985C>A (p.Ser1662Tyr) c.4343C>A (p.Ser1448Tyr) c.4274C>A (p.Ser1425Tyr) c.4910C>A (p.Ser1637Tyr) c.4721C>A (p.Ser1574Tyr) c.3125C>A (p.Ser1042Tyr) n.5261C>A | |
| 6 | g.52024826A>C | CA364430262 | PKHD1 | c.4984T>G (p.Ser1662Ala) c.4342T>G (p.Ser1448Ala) c.4273T>G (p.Ser1425Ala) c.4909T>G (p.Ser1637Ala) c.4720T>G (p.Ser1574Ala) c.3124T>G (p.Ser1042Ala) n.5260T>G | |
| 6 | g.52024826A>G | CA364430256 | PKHD1 | c.4984T>C (p.Ser1662Pro) c.4342T>C (p.Ser1448Pro) c.4273T>C (p.Ser1425Pro) c.4909T>C (p.Ser1637Pro) c.4720T>C (p.Ser1574Pro) c.3124T>C (p.Ser1042Pro) n.5260T>C | |
| 6 | g.52024826A>T | CA364430253 | PKHD1 | c.4984T>A (p.Ser1662Thr) c.4342T>A (p.Ser1448Thr) c.4273T>A (p.Ser1425Thr) c.4909T>A (p.Ser1637Thr) c.4720T>A (p.Ser1574Thr) c.3124T>A (p.Ser1042Thr) n.5260T>A | |
| 6 | g.52024827G>A | CA3852635 | PKHD1 | c.4983C>T (p.Ile1661=) c.4341C>T (p.Ile1447=) c.4272C>T (p.Ile1424=) c.4908C>T (p.Ile1636=) c.4719C>T (p.Ile1573=) c.3123C>T (p.Ile1041=) n.5259C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.52024827G>C | CA3852634 | PKHD1 | c.4983C>G (p.Ile1661Met) c.4341C>G (p.Ile1447Met) c.4272C>G (p.Ile1424Met) c.4908C>G (p.Ile1636Met) c.4719C>G (p.Ile1573Met) c.3123C>G (p.Ile1041Met) n.5259C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52024827G= | CA1628646741 | PKHD1 | c.4983C= (p.Ile1661=) c.4341C= (p.Ile1447=) c.4272C= (p.Ile1424=) c.4908C= (p.Ile1636=) c.4719C= (p.Ile1573=) c.3123C= (p.Ile1041=) n.5259C= | |
| 6 | g.52024827G>T | CA450613881 | PKHD1 | c.4983C>A (p.Ile1661=) c.4341C>A (p.Ile1447=) c.4272C>A (p.Ile1424=) c.4908C>A (p.Ile1636=) c.4719C>A (p.Ile1573=) c.3123C>A (p.Ile1041=) n.5259C>A | |
| 6 | g.52024828A>C | CA364430267 | PKHD1 | c.4982T>G (p.Ile1661Ser) c.4340T>G (p.Ile1447Ser) c.4271T>G (p.Ile1424Ser) c.4907T>G (p.Ile1636Ser) c.4718T>G (p.Ile1573Ser) c.3122T>G (p.Ile1041Ser) n.5258T>G | |
| 6 | g.52024828A>G | CA364430275 | PKHD1 | c.4982T>C (p.Ile1661Thr) c.4340T>C (p.Ile1447Thr) c.4271T>C (p.Ile1424Thr) c.4907T>C (p.Ile1636Thr) c.4718T>C (p.Ile1573Thr) c.3122T>C (p.Ile1041Thr) n.5258T>C | gnomAD v4 |
| 6 | g.52024828A>T | CA364430280 | PKHD1 | c.4982T>A (p.Ile1661Asn) c.4340T>A (p.Ile1447Asn) c.4271T>A (p.Ile1424Asn) c.4907T>A (p.Ile1636Asn) c.4718T>A (p.Ile1573Asn) c.3122T>A (p.Ile1041Asn) n.5258T>A | |
| 6 | g.52024829T>A | CA364430282 | PKHD1 | c.4981A>T (p.Ile1661Phe) c.4339A>T (p.Ile1447Phe) c.4270A>T (p.Ile1424Phe) c.4906A>T (p.Ile1636Phe) c.4717A>T (p.Ile1573Phe) c.3121A>T (p.Ile1041Phe) n.5257A>T | gnomAD v4 |
| 6 | g.52024829T>C | CA364430286 | PKHD1 | c.4981A>G (p.Ile1661Val) c.4339A>G (p.Ile1447Val) c.4270A>G (p.Ile1424Val) c.4906A>G (p.Ile1636Val) c.4717A>G (p.Ile1573Val) c.3121A>G (p.Ile1041Val) n.5257A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52024829T>G | CA364430288 | PKHD1 | c.4981A>C (p.Ile1661Leu) c.4339A>C (p.Ile1447Leu) c.4270A>C (p.Ile1424Leu) c.4906A>C (p.Ile1636Leu) c.4717A>C (p.Ile1573Leu) c.3121A>C (p.Ile1041Leu) n.5257A>C | dbSNP |
| 6 | g.52024829T= | CA1628646745 | PKHD1 | c.4981A= (p.Ile1661=) c.4339A= (p.Ile1447=) c.4270A= (p.Ile1424=) c.4906A= (p.Ile1636=) c.4717A= (p.Ile1573=) c.3121A= (p.Ile1041=) n.5257A= | |
| 6 | g.52024830del | CA450613882 | PKHD1 | c.4980del (p.Ile1661SerfsTer10) c.4338del (p.Ile1447SerfsTer10) c.4269del (p.Ile1424SerfsTer10) c.4905del (p.Ile1636SerfsTer10) c.4716del (p.Ile1573SerfsTer10) c.3120del (p.Ile1041SerfsTer10) n.5256del | COSMIC COSMIC |
| 6 | g.52024830C>A | CA364430290 | PKHD1 | c.4980G>T (p.Leu1660Phe) c.4338G>T (p.Leu1446Phe) c.4269G>T (p.Leu1423Phe) c.4905G>T (p.Leu1635Phe) c.4716G>T (p.Leu1572Phe) c.3120G>T (p.Leu1040Phe) n.5256G>T | |
| 6 | g.52024830C= | CA1628646750 | PKHD1 | c.4980G= (p.Leu1660=) c.4338G= (p.Leu1446=) c.4269G= (p.Leu1423=) c.4905G= (p.Leu1635=) c.4716G= (p.Leu1572=) c.3120G= (p.Leu1040=) n.5256G= | |
| 6 | g.52024830C>G | CA364430291 | PKHD1 | c.4980G>C (p.Leu1660Phe) c.4338G>C (p.Leu1446Phe) c.4269G>C (p.Leu1423Phe) c.4905G>C (p.Leu1635Phe) c.4716G>C (p.Leu1572Phe) c.3120G>C (p.Leu1040Phe) n.5256G>C | |
| 6 | g.52024830C>T | CA3852636 | PKHD1 | c.4980G>A (p.Leu1660=) c.4338G>A (p.Leu1446=) c.4269G>A (p.Leu1423=) c.4905G>A (p.Leu1635=) c.4716G>A (p.Leu1572=) c.3120G>A (p.Leu1040=) n.5256G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52024831A>C | CA364430298 | PKHD1 | c.4979T>G (p.Leu1660Trp) c.4337T>G (p.Leu1446Trp) c.4268T>G (p.Leu1423Trp) c.4904T>G (p.Leu1635Trp) c.4715T>G (p.Leu1572Trp) c.3119T>G (p.Leu1040Trp) n.5255T>G | |
| 6 | g.52024831A>G | CA364430300 | PKHD1 | c.4979T>C (p.Leu1660Ser) c.4337T>C (p.Leu1446Ser) c.4268T>C (p.Leu1423Ser) c.4904T>C (p.Leu1635Ser) c.4715T>C (p.Leu1572Ser) c.3119T>C (p.Leu1040Ser) n.5255T>C | |
| 6 | g.52024831A>T | CA364430301 | PKHD1 | c.4979T>A (p.Leu1660Ter) c.4337T>A (p.Leu1446Ter) c.4268T>A (p.Leu1423Ter) c.4904T>A (p.Leu1635Ter) c.4715T>A (p.Leu1572Ter) c.3119T>A (p.Leu1040Ter) n.5255T>A | |
| 6 | g.52024832A>C | CA364430302 | PKHD1 | c.4978T>G (p.Leu1660Val) c.4336T>G (p.Leu1446Val) c.4267T>G (p.Leu1423Val) c.4903T>G (p.Leu1635Val) c.4714T>G (p.Leu1572Val) c.3118T>G (p.Leu1040Val) n.5254T>G | |
| 6 | g.52024832A>G | CA450613883 | PKHD1 | c.4978T>C (p.Leu1660=) c.4336T>C (p.Leu1446=) c.4267T>C (p.Leu1423=) c.4903T>C (p.Leu1635=) c.4714T>C (p.Leu1572=) c.3118T>C (p.Leu1040=) n.5254T>C | |
| 6 | g.52024832A>T | CA364430303 | PKHD1 | c.4978T>A (p.Leu1660Met) c.4336T>A (p.Leu1446Met) c.4267T>A (p.Leu1423Met) c.4903T>A (p.Leu1635Met) c.4714T>A (p.Leu1572Met) c.3118T>A (p.Leu1040Met) n.5254T>A | |
| 6 | g.52024833T>A | CA364430305 | PKHD1 | c.4977A>T (p.Glu1659Asp) c.4335A>T (p.Glu1445Asp) c.4266A>T (p.Glu1422Asp) c.4902A>T (p.Glu1634Asp) c.4713A>T (p.Glu1571Asp) c.3117A>T (p.Glu1039Asp) n.5253A>T | gnomAD v4 |
| 6 | g.52024833T>C | CA450613884 | PKHD1 | c.4977A>G (p.Glu1659=) c.4335A>G (p.Glu1445=) c.4266A>G (p.Glu1422=) c.4902A>G (p.Glu1634=) c.4713A>G (p.Glu1571=) c.3117A>G (p.Glu1039=) n.5253A>G | ClinVar dbSNP |
| 6 | g.52024833T>G | CA364430306 | PKHD1 | c.4977A>C (p.Glu1659Asp) c.4335A>C (p.Glu1445Asp) c.4266A>C (p.Glu1422Asp) c.4902A>C (p.Glu1634Asp) c.4713A>C (p.Glu1571Asp) c.3117A>C (p.Glu1039Asp) n.5253A>C | |
| 6 | g.52024834T>A | CA364430308 | PKHD1 | c.4976A>T (p.Glu1659Val) c.4334A>T (p.Glu1445Val) c.4265A>T (p.Glu1422Val) c.4901A>T (p.Glu1634Val) c.4712A>T (p.Glu1571Val) c.3116A>T (p.Glu1039Val) n.5252A>T | |
| 6 | g.52024834T>C | CA364430310 | PKHD1 | c.4976A>G (p.Glu1659Gly) c.4334A>G (p.Glu1445Gly) c.4265A>G (p.Glu1422Gly) c.4901A>G (p.Glu1634Gly) c.4712A>G (p.Glu1571Gly) c.3116A>G (p.Glu1039Gly) n.5252A>G | |
| 6 | g.52024834T>G | CA364430312 | PKHD1 | c.4976A>C (p.Glu1659Ala) c.4334A>C (p.Glu1445Ala) c.4265A>C (p.Glu1422Ala) c.4901A>C (p.Glu1634Ala) c.4712A>C (p.Glu1571Ala) c.3116A>C (p.Glu1039Ala) n.5252A>C | |
| 6 | g.52024835C>A | CA364430315 | PKHD1 | c.4975G>T (p.Glu1659Ter) c.4333G>T (p.Glu1445Ter) c.4264G>T (p.Glu1422Ter) c.4900G>T (p.Glu1634Ter) c.4711G>T (p.Glu1571Ter) c.3115G>T (p.Glu1039Ter) n.5251G>T | |
| 6 | g.52024835C>G | CA364430317 | PKHD1 | c.4975G>C (p.Glu1659Gln) c.4333G>C (p.Glu1445Gln) c.4264G>C (p.Glu1422Gln) c.4900G>C (p.Glu1634Gln) c.4711G>C (p.Glu1571Gln) c.3115G>C (p.Glu1039Gln) n.5251G>C | |
| 6 | g.52024835C>T | CA364430318 | PKHD1 | c.4975G>A (p.Glu1659Lys) c.4333G>A (p.Glu1445Lys) c.4264G>A (p.Glu1422Lys) c.4900G>A (p.Glu1634Lys) c.4711G>A (p.Glu1571Lys) c.3115G>A (p.Glu1039Lys) n.5251G>A | |
| 6 | g.52024836T>A | CA450613885 | PKHD1 | c.4974A>T (p.Pro1658=) c.4332A>T (p.Pro1444=) c.4263A>T (p.Pro1421=) c.4899A>T (p.Pro1633=) c.4710A>T (p.Pro1570=) c.3114A>T (p.Pro1038=) n.5250A>T | |
| 6 | g.52024836T>C | CA450613886 | PKHD1 | c.4974A>G (p.Pro1658=) c.4332A>G (p.Pro1444=) c.4263A>G (p.Pro1421=) c.4899A>G (p.Pro1633=) c.4710A>G (p.Pro1570=) c.3114A>G (p.Pro1038=) n.5250A>G | ClinVar |