| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52025719_52025771del | CA2695206476 | PKHD1 | c.4039_4091del (p.Val1347SerfsTer13) c.4039_4091del (p.Val1347SerfsTer?) c.3328_3380del (p.Val1110SerfsTer13) c.3964_4016del (p.Val1322SerfsTer13) c.3775_3827del (p.Val1259SerfsTer13) c.2179_2231del (p.Val727SerfsTer13) n.4315_4367del | |
| 6 | g.52025770A>C | CA364436273 | PKHD1 | c.4040T>G (p.Val1347Gly) c.3329T>G (p.Val1110Gly) c.3965T>G (p.Val1322Gly) c.3776T>G (p.Val1259Gly) c.2180T>G (p.Val727Gly) n.4316T>G | |
| 6 | g.52025770A>G | CA364436278 | PKHD1 | c.4040T>C (p.Val1347Ala) c.3329T>C (p.Val1110Ala) c.3965T>C (p.Val1322Ala) c.3776T>C (p.Val1259Ala) c.2180T>C (p.Val727Ala) n.4316T>C | |
| 6 | g.52025770A>T | CA364436272 | PKHD1 | c.4040T>A (p.Val1347Glu) c.3329T>A (p.Val1110Glu) c.3965T>A (p.Val1322Glu) c.3776T>A (p.Val1259Glu) c.2180T>A (p.Val727Glu) n.4316T>A | |
| 6 | g.52025771C>A | CA364436280 | PKHD1 | c.4039G>T (p.Val1347Leu) c.3328G>T (p.Val1110Leu) c.3964G>T (p.Val1322Leu) c.3775G>T (p.Val1259Leu) c.2179G>T (p.Val727Leu) n.4315G>T | gnomAD v4 |
| 6 | g.52025771C= | CA1628648471 | PKHD1 | c.4039G= (p.Val1347=) c.3328G= (p.Val1110=) c.3964G= (p.Val1322=) c.3775G= (p.Val1259=) c.2179G= (p.Val727=) n.4315G= | |
| 6 | g.52025771C>G | CA364436284 | PKHD1 | c.4039G>C (p.Val1347Leu) c.3328G>C (p.Val1110Leu) c.3964G>C (p.Val1322Leu) c.3775G>C (p.Val1259Leu) c.2179G>C (p.Val727Leu) n.4315G>C | gnomAD v4 |
| 6 | g.52025771C>T | CA3852790 | PKHD1 | c.4039G>A (p.Val1347Met) c.3328G>A (p.Val1110Met) c.3964G>A (p.Val1322Met) c.3775G>A (p.Val1259Met) c.2179G>A (p.Val727Met) n.4315G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52025772G>A | CA3852791 | PKHD1 | c.4038C>T (p.Asn1346=) c.3327C>T (p.Asn1109=) c.3963C>T (p.Asn1321=) c.3774C>T (p.Asn1258=) c.2178C>T (p.Asn726=) n.4314C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52025772G>C | CA364436288 | PKHD1 | c.4038C>G (p.Asn1346Lys) c.3327C>G (p.Asn1109Lys) c.3963C>G (p.Asn1321Lys) c.3774C>G (p.Asn1258Lys) c.2178C>G (p.Asn726Lys) n.4314C>G | |
| 6 | g.52025772G= | CA1628648472 | PKHD1 | c.4038C= (p.Asn1346=) c.3327C= (p.Asn1109=) c.3963C= (p.Asn1321=) c.3774C= (p.Asn1258=) c.2178C= (p.Asn726=) n.4314C= | |
| 6 | g.52025772G>T | CA364436301 | PKHD1 | c.4038C>A (p.Asn1346Lys) c.3327C>A (p.Asn1109Lys) c.3963C>A (p.Asn1321Lys) c.3774C>A (p.Asn1258Lys) c.2178C>A (p.Asn726Lys) n.4314C>A | |
| 6 | g.52025773T>A | CA364436304 | PKHD1 | c.4037A>T (p.Asn1346Ile) c.3326A>T (p.Asn1109Ile) c.3962A>T (p.Asn1321Ile) c.3773A>T (p.Asn1258Ile) c.2177A>T (p.Asn726Ile) n.4313A>T | |
| 6 | g.52025773T>C | CA3852792 | PKHD1 | c.4037A>G (p.Asn1346Ser) c.3326A>G (p.Asn1109Ser) c.3962A>G (p.Asn1321Ser) c.3773A>G (p.Asn1258Ser) c.2177A>G (p.Asn726Ser) n.4313A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52025773T>G | CA364436307 | PKHD1 | c.4037A>C (p.Asn1346Thr) c.3326A>C (p.Asn1109Thr) c.3962A>C (p.Asn1321Thr) c.3773A>C (p.Asn1258Thr) c.2177A>C (p.Asn726Thr) n.4313A>C | |
| 6 | g.52025773T= | CA1628648473 | PKHD1 | c.4037A= (p.Asn1346=) c.3326A= (p.Asn1109=) c.3962A= (p.Asn1321=) c.3773A= (p.Asn1258=) c.2177A= (p.Asn726=) n.4313A= | |
| 6 | g.52025774T>A | CA364436310 | PKHD1 | c.4036A>T (p.Asn1346Tyr) c.3325A>T (p.Asn1109Tyr) c.3961A>T (p.Asn1321Tyr) c.3772A>T (p.Asn1258Tyr) c.2176A>T (p.Asn726Tyr) n.4312A>T | |
| 6 | g.52025774T>C | CA364436313 | PKHD1 | c.4036A>G (p.Asn1346Asp) c.3325A>G (p.Asn1109Asp) c.3961A>G (p.Asn1321Asp) c.3772A>G (p.Asn1258Asp) c.2176A>G (p.Asn726Asp) n.4312A>G | |
| 6 | g.52025774T>G | CA364436316 | PKHD1 | c.4036A>C (p.Asn1346His) c.3325A>C (p.Asn1109His) c.3961A>C (p.Asn1321His) c.3772A>C (p.Asn1258His) c.2176A>C (p.Asn726His) n.4312A>C | |
| 6 | g.52025775G>A | CA450614847 | PKHD1 | c.4035C>T (p.Gly1345=) c.3324C>T (p.Gly1108=) c.3960C>T (p.Gly1320=) c.3771C>T (p.Gly1257=) c.2175C>T (p.Gly725=) n.4311C>T | dbSNP |
| 6 | g.52025775G>C | CA450614849 | PKHD1 | c.4035C>G (p.Gly1345=) c.3324C>G (p.Gly1108=) c.3960C>G (p.Gly1320=) c.3771C>G (p.Gly1257=) c.2175C>G (p.Gly725=) n.4311C>G | |
| 6 | g.52025775G= | CA1628648475 | PKHD1 | c.4035C= (p.Gly1345=) c.3324C= (p.Gly1108=) c.3960C= (p.Gly1320=) c.3771C= (p.Gly1257=) c.2175C= (p.Gly725=) n.4311C= | |
| 6 | g.52025775G>T | CA202594 | PKHD1 | c.4035C>A (p.Gly1345=) c.3324C>A (p.Gly1108=) c.3960C>A (p.Gly1320=) c.3771C>A (p.Gly1257=) c.2175C>A (p.Gly725=) n.4311C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52025776C>A | CA364436323 | PKHD1 | c.4034G>T (p.Gly1345Val) c.3323G>T (p.Gly1108Val) c.3959G>T (p.Gly1320Val) c.3770G>T (p.Gly1257Val) c.2174G>T (p.Gly725Val) n.4310G>T | |
| 6 | g.52025776C>G | CA364436325 | PKHD1 | c.4034G>C (p.Gly1345Ala) c.3323G>C (p.Gly1108Ala) c.3959G>C (p.Gly1320Ala) c.3770G>C (p.Gly1257Ala) c.2174G>C (p.Gly725Ala) n.4310G>C | |
| 6 | g.52025776C>T | CA364436327 | PKHD1 | c.4034G>A (p.Gly1345Asp) c.3323G>A (p.Gly1108Asp) c.3959G>A (p.Gly1320Asp) c.3770G>A (p.Gly1257Asp) c.2174G>A (p.Gly725Asp) n.4310G>A | gnomAD v4 |
| 6 | g.52025778del | CA2573140978 | PKHD1 | c.4034del (p.Gly1345AlafsTer3) c.3323del (p.Gly1108AlafsTer3) c.3959del (p.Gly1320AlafsTer3) c.3770del (p.Gly1257AlafsTer3) c.2174del (p.Gly725AlafsTer3) n.4310del | ClinVar dbSNP |
| 6 | g.52025777C>A | CA364436329 | PKHD1 | c.4033G>T (p.Gly1345Cys) c.3322G>T (p.Gly1108Cys) c.3958G>T (p.Gly1320Cys) c.3769G>T (p.Gly1257Cys) c.2173G>T (p.Gly725Cys) n.4309G>T | gnomAD v4 |
| 6 | g.52025777C>G | CA364436335 | PKHD1 | c.4033G>C (p.Gly1345Arg) c.3322G>C (p.Gly1108Arg) c.3958G>C (p.Gly1320Arg) c.3769G>C (p.Gly1257Arg) c.2173G>C (p.Gly725Arg) n.4309G>C | |
| 6 | g.52025777C>T | CA364436331 | PKHD1 | c.4033G>A (p.Gly1345Ser) c.3322G>A (p.Gly1108Ser) c.3958G>A (p.Gly1320Ser) c.3769G>A (p.Gly1257Ser) c.2173G>A (p.Gly725Ser) n.4309G>A | |
| 6 | g.52025778C>A | CA364436338 | PKHD1 | c.4032G>T (p.Gln1344His) c.3321G>T (p.Gln1107His) c.3957G>T (p.Gln1319His) c.3768G>T (p.Gln1256His) c.2172G>T (p.Gln724His) n.4308G>T | |
| 6 | g.52025778C>G | CA364436339 | PKHD1 | c.4032G>C (p.Gln1344His) c.3321G>C (p.Gln1107His) c.3957G>C (p.Gln1319His) c.3768G>C (p.Gln1256His) c.2172G>C (p.Gln724His) n.4308G>C | |
| 6 | g.52025778C>T | CA450614857 | PKHD1 | c.4032G>A (p.Gln1344=) c.3321G>A (p.Gln1107=) c.3957G>A (p.Gln1319=) c.3768G>A (p.Gln1256=) c.2172G>A (p.Gln724=) n.4308G>A | |
| 6 | g.52025779T>A | CA364436340 | PKHD1 | c.4031A>T (p.Gln1344Leu) c.3320A>T (p.Gln1107Leu) c.3956A>T (p.Gln1319Leu) c.3767A>T (p.Gln1256Leu) c.2171A>T (p.Gln724Leu) n.4307A>T | |
| 6 | g.52025779T>C | CA364436341 | PKHD1 | c.4031A>G (p.Gln1344Arg) c.3320A>G (p.Gln1107Arg) c.3956A>G (p.Gln1319Arg) c.3767A>G (p.Gln1256Arg) c.2171A>G (p.Gln724Arg) n.4307A>G | |
| 6 | g.52025779T>G | CA364436342 | PKHD1 | c.4031A>C (p.Gln1344Pro) c.3320A>C (p.Gln1107Pro) c.3956A>C (p.Gln1319Pro) c.3767A>C (p.Gln1256Pro) c.2171A>C (p.Gln724Pro) n.4307A>C | |
| 6 | g.52025780G>A | CA364436343 | PKHD1 | c.4030C>T (p.Gln1344Ter) c.3319C>T (p.Gln1107Ter) c.3955C>T (p.Gln1319Ter) c.3766C>T (p.Gln1256Ter) c.2170C>T (p.Gln724Ter) n.4306C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52025780G>C | CA364436345 | PKHD1 | c.4030C>G (p.Gln1344Glu) c.3319C>G (p.Gln1107Glu) c.3955C>G (p.Gln1319Glu) c.3766C>G (p.Gln1256Glu) c.2170C>G (p.Gln724Glu) n.4306C>G | |
| 6 | g.52025780G= | CA1628648476 | PKHD1 | c.4030C= (p.Gln1344=) c.3319C= (p.Gln1107=) c.3955C= (p.Gln1319=) c.3766C= (p.Gln1256=) c.2170C= (p.Gln724=) n.4306C= | |
| 6 | g.52025780G>T | CA364436348 | PKHD1 | c.4030C>A (p.Gln1344Lys) c.3319C>A (p.Gln1107Lys) c.3955C>A (p.Gln1319Lys) c.3766C>A (p.Gln1256Lys) c.2170C>A (p.Gln724Lys) n.4306C>A | |
| 6 | g.52025781G>A | CA450614860 | PKHD1 | c.4029C>T (p.Phe1343=) c.3318C>T (p.Phe1106=) c.3954C>T (p.Phe1318=) c.3765C>T (p.Phe1255=) c.2169C>T (p.Phe723=) n.4305C>T | |
| 6 | g.52025781G>C | CA364436350 | PKHD1 | c.4029C>G (p.Phe1343Leu) c.3318C>G (p.Phe1106Leu) c.3954C>G (p.Phe1318Leu) c.3765C>G (p.Phe1255Leu) c.2169C>G (p.Phe723Leu) n.4305C>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025781G= | CA1628648477 | PKHD1 | c.4029C= (p.Phe1343=) c.3318C= (p.Phe1106=) c.3954C= (p.Phe1318=) c.3765C= (p.Phe1255=) c.2169C= (p.Phe723=) n.4305C= | |
| 6 | g.52025781G>T | CA364436353 | PKHD1 | c.4029C>A (p.Phe1343Leu) c.3318C>A (p.Phe1106Leu) c.3954C>A (p.Phe1318Leu) c.3765C>A (p.Phe1255Leu) c.2169C>A (p.Phe723Leu) n.4305C>A | |
| 6 | g.52025782A= | CA1628648478 | PKHD1 | c.4028T= (p.Phe1343=) c.3317T= (p.Phe1106=) c.3953T= (p.Phe1318=) c.3764T= (p.Phe1255=) c.2168T= (p.Phe723=) n.4304T= | |
| 6 | g.52025782A>C | CA364436358 | PKHD1 | c.4028T>G (p.Phe1343Cys) c.3317T>G (p.Phe1106Cys) c.3953T>G (p.Phe1318Cys) c.3764T>G (p.Phe1255Cys) c.2168T>G (p.Phe723Cys) n.4304T>G | |
| 6 | g.52025782A>G | CA364436356 | PKHD1 | c.4028T>C (p.Phe1343Ser) c.3317T>C (p.Phe1106Ser) c.3953T>C (p.Phe1318Ser) c.3764T>C (p.Phe1255Ser) c.2168T>C (p.Phe723Ser) n.4304T>C | gnomAD v4 |
| 6 | g.52025782A>T | CA364436355 | PKHD1 | c.4028T>A (p.Phe1343Tyr) c.3317T>A (p.Phe1106Tyr) c.3953T>A (p.Phe1318Tyr) c.3764T>A (p.Phe1255Tyr) c.2168T>A (p.Phe723Tyr) n.4304T>A | dbSNP |
| 6 | g.52025783A>C | CA364436361 | PKHD1 | c.4027T>G (p.Phe1343Val) c.3316T>G (p.Phe1106Val) c.3952T>G (p.Phe1318Val) c.3763T>G (p.Phe1255Val) c.2167T>G (p.Phe723Val) n.4303T>G | |
| 6 | g.52025783A>G | CA364436364 | PKHD1 | c.4027T>C (p.Phe1343Leu) c.3316T>C (p.Phe1106Leu) c.3952T>C (p.Phe1318Leu) c.3763T>C (p.Phe1255Leu) c.2167T>C (p.Phe723Leu) n.4303T>C |