| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41769546G>A | CA8565520 | JUP | c.340C>T (p.Gln114Ter) c.391C>T (p.Gln131Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769546G>C | CA399505374 | JUP | c.340C>G (p.Gln114Glu) c.391C>G (p.Gln131Glu) | |
| 17 | g.41769546G= | CA2260176198 | JUP | c.340C= (p.Gln114=) c.391C= (p.Gln131=) | |
| 17 | g.41769546G>T | CA399505382 | JUP | c.340C>A (p.Gln114Lys) c.391C>A (p.Gln131Lys) | |
| 17 | g.41769547C>A | CA500207667 | JUP | c.339G>T (p.Leu113=) c.390G>T (p.Leu130=) | |
| 17 | g.41769547C>G | CA500207668 | JUP | c.339G>C (p.Leu113=) c.390G>C (p.Leu130=) | |
| 17 | g.41769547C>T | CA500207669 | JUP | c.339G>A (p.Leu113=) c.390G>A (p.Leu130=) | |
| 17 | g.41769548A>C | CA399505385 | JUP | c.338T>G (p.Leu113Arg) c.389T>G (p.Leu130Arg) | |
| 17 | g.41769548A>G | CA399505387 | JUP | c.338T>C (p.Leu113Pro) c.389T>C (p.Leu130Pro) | |
| 17 | g.41769548A>T | CA399505388 | JUP | c.338T>A (p.Leu113Gln) c.389T>A (p.Leu130Gln) | |
| 17 | g.41769549G>A | CA500207670 | JUP | c.337C>T (p.Leu113=) c.388C>T (p.Leu130=) | ClinVar |
| 17 | g.41769549G>C | CA399505392 | JUP | c.337C>G (p.Leu113Val) c.388C>G (p.Leu130Val) | |
| 17 | g.41769549G>T | CA399505393 | JUP | c.337C>A (p.Leu113Met) c.388C>A (p.Leu130Met) | COSMIC |
| 17 | g.41769550G>A | CA500207671 | JUP | c.336C>T (p.Asn112=) c.387C>T (p.Asn129=) | |
| 17 | g.41769550G>C | CA399505395 | JUP | c.336C>G (p.Asn112Lys) c.387C>G (p.Asn129Lys) | |
| 17 | g.41769550G= | CA2260176199 | JUP | c.336C= (p.Asn112=) c.387C= (p.Asn129=) | |
| 17 | g.41769550G>T | CA399505396 | JUP | c.336C>A (p.Asn112Lys) c.387C>A (p.Asn129Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769551T>A | CA399505398 | JUP | c.335A>T (p.Asn112Ile) c.386A>T (p.Asn129Ile) | |
| 17 | g.41769551T>C | CA237240 | JUP | c.335A>G (p.Asn112Ser) c.386A>G (p.Asn129Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769551T>G | CA399505404 | JUP | c.335A>C (p.Asn112Thr) c.386A>C (p.Asn129Thr) | dbSNP |
| 17 | g.41769551T= | CA2260176200 | JUP | c.335A= (p.Asn112=) c.386A= (p.Asn129=) | |
| 17 | g.41769552T>A | CA399505405 | JUP | c.334A>T (p.Asn112Tyr) c.385A>T (p.Asn129Tyr) | |
| 17 | g.41769552T>C | CA399505409 | JUP | c.334A>G (p.Asn112Asp) c.385A>G (p.Asn129Asp) | gnomAD v4 |
| 17 | g.41769552T>G | CA399505410 | JUP | c.334A>C (p.Asn112His) c.385A>C (p.Asn129His) | |
| 17 | g.41769553G>A | CA500207672 | JUP | c.333C>T (p.Thr111=) c.384C>T (p.Thr128=) | |
| 17 | g.41769553G>C | CA500207673 | JUP | c.333C>G (p.Thr111=) c.384C>G (p.Thr128=) | |
| 17 | g.41769553G>T | CA500207674 | JUP | c.333C>A (p.Thr111=) c.384C>A (p.Thr128=) | |
| 17 | g.41769554G>A | CA8565521 | JUP | c.332C>T (p.Thr111Ile) c.383C>T (p.Thr128Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769554G>C | CA399505411 | JUP | c.332C>G (p.Thr111Ser) c.383C>G (p.Thr128Ser) | gnomAD v4 |
| 17 | g.41769554G= | CA2260176201 | JUP | c.332C= (p.Thr111=) c.383C= (p.Thr128=) | |
| 17 | g.41769554G>T | CA399505412 | JUP | c.332C>A (p.Thr111Asn) c.383C>A (p.Thr128Asn) | |
| 17 | g.41769555T>A | CA399505413 | JUP | c.331A>T (p.Thr111Ser) c.382A>T (p.Thr128Ser) | |
| 17 | g.41769555T>C | CA399505415 | JUP | c.331A>G (p.Thr111Ala) c.382A>G (p.Thr128Ala) | gnomAD v4 |
| 17 | g.41769555T>G | CA399505416 | JUP | c.331A>C (p.Thr111Pro) c.382A>C (p.Thr128Pro) | |
| 17 | g.41769556G>A | CA500207675 | JUP | c.330C>T (p.Ala110=) c.381C>T (p.Ala127=) | ClinVar gnomAD v4 |
| 17 | g.41769556G>C | CA500207677 | JUP | c.330C>G (p.Ala110=) c.381C>G (p.Ala127=) | |
| 17 | g.41769556G>T | CA500207676 | JUP | c.330C>A (p.Ala110=) c.381C>A (p.Ala127=) | |
| 17 | g.41769557G>A | CA8565522 | JUP | c.329C>T (p.Ala110Val) c.380C>T (p.Ala127Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769557G>C | CA399505420 | JUP | c.329C>G (p.Ala110Gly) c.380C>G (p.Ala127Gly) | |
| 17 | g.41769557G= | CA2260176202 | JUP | c.329C= (p.Ala110=) c.380C= (p.Ala127=) | |
| 17 | g.41769557G>T | CA399505418 | JUP | c.329C>A (p.Ala110Asp) c.380C>A (p.Ala127Asp) | gnomAD v4 |
| 17 | g.41769558C>A | CA399505428 | JUP | c.328G>T (p.Ala110Ser) c.379G>T (p.Ala127Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769558C= | CA2260176203 | JUP | c.328G= (p.Ala110=) c.379G= (p.Ala127=) | |
| 17 | g.41769558C>G | CA399505425 | JUP | c.328G>C (p.Ala110Pro) c.379G>C (p.Ala127Pro) | |
| 17 | g.41769558C>T | CA399505426 | JUP | c.328G>A (p.Ala110Thr) c.379G>A (p.Ala127Thr) | ClinVar dbSNP |
| 17 | g.41769559C>A | CA399505431 | JUP | c.327G>T (p.Gln109His) c.378G>T (p.Gln126His) | |
| 17 | g.41769559C>G | CA399505433 | JUP | c.327G>C (p.Gln109His) c.378G>C (p.Gln126His) | |
| 17 | g.41769559C>T | CA500207678 | JUP | c.327G>A (p.Gln109=) c.378G>A (p.Gln126=) | |
| 17 | g.41769560T>A | CA399505439 | JUP | c.326A>T (p.Gln109Leu) c.377A>T (p.Gln126Leu) | |
| 17 | g.41769560T>C | CA399505441 | JUP | c.326A>G (p.Gln109Arg) c.377A>G (p.Gln126Arg) | gnomAD v4 |
| 17 | g.41769560T>G | CA399505444 | JUP | c.326A>C (p.Gln109Pro) c.377A>C (p.Gln126Pro) | |
| 17 | g.41769561G>A | CA399505446 | JUP | c.325C>T (p.Gln109Ter) c.376C>T (p.Gln126Ter) | |
| 17 | g.41769561G>C | CA399505451 | JUP | c.325C>G (p.Gln109Glu) c.376C>G (p.Gln126Glu) | |
| 17 | g.41769561G>T | CA399505459 | JUP | c.325C>A (p.Gln109Lys) c.376C>A (p.Gln126Lys) | gnomAD v4 |
| 17 | g.41769561_41769562insACTTTGGATTATTCTAAAAACCGTATCAACGACGAAACCATGGCACTGTTGTTCGAGCTGGCGCGTGAAGCAGGCGTTCCGGAGCGGATGCAGCAAATGTTCCACGGCGAAAAAATCAATACGACAGAAAA | CA2558520175 | JUP | c.324_325insTTTTCTGTCGTATTGATTTTTTCGCCGTGGAACATTTGCTGCATCCGCTCCGGAACGCCTGCTTCACGCGCCAGCTCGAACAACAGTGCCATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln109PhefsTer41) c.375_376insTTTTCTGTCGTATTGATTTTTTCGCCGTGGAACATTTGCTGCATCCGCTCCGGAACGCCTGCTTCACGCGCCAGCTCGAACAACAGTGCCATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln126PhefsTer41) | |
| 17 | g.41769561_41769562insACTTTGGATTATTCTAAAAACCGTATCAACGACGAAACCATGTCGCTTTTGTTCGAGTTGGCGCGTGAAGCAGGCGTGCCGGAGCGGATGCAGCAAATGTTCCATGGCGAAAAAATCAATACGACAGAAAA | CA2568339483 | JUP | c.324_325insTTTTCTGTCGTATTGATTTTTTCGCCATGGAACATTTGCTGCATCCGCTCCGGCACGCCTGCTTCACGCGCCAACTCGAACAAAAGCGACATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln109PhefsTer41) c.375_376insTTTTCTGTCGTATTGATTTTTTCGCCATGGAACATTTGCTGCATCCGCTCCGGCACGCCTGCTTCACGCGCCAACTCGAACAAAAGCGACATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln126PhefsTer41) | |
| 17 | g.41769561_41769562insACTTTGGATTATTCTAAAAACCGTATCAACGACGAAACCATGTCGCTTTTGTTCGAGTTGGCGCGTGAAGCAGGCGTACCGGAGCGGATGCAGCAAATGTTCCACGGCGAAAAAATCAATACGACGGAAAA | CA2504621873 | JUP | c.324_325insTTTTCCGTCGTATTGATTTTTTCGCCGTGGAACATTTGCTGCATCCGCTCCGGTACGCCTGCTTCACGCGCCAACTCGAACAAAAGCGACATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln109PhefsTer41) c.375_376insTTTTCCGTCGTATTGATTTTTTCGCCGTGGAACATTTGCTGCATCCGCTCCGGTACGCCTGCTTCACGCGCCAACTCGAACAAAAGCGACATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln126PhefsTer41) | |
| 17 | g.41769562C>A | CA500207679 | JUP | c.324G>T (p.Gly108=) c.375G>T (p.Gly125=) | |
| 17 | g.41769562C= | CA2260176204 | JUP | c.324G= (p.Gly108=) c.375G= (p.Gly125=) | |
| 17 | g.41769562C>G | CA500207680 | JUP | c.324G>C (p.Gly108=) c.375G>C (p.Gly125=) | |
| 17 | g.41769562C>T | CA500207681 | JUP | c.324G>A (p.Gly108=) c.375G>A (p.Gly125=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769565dup | CA645574073 | JUP | c.324dup (p.Gln109AlafsTer?) c.375dup (p.Gln126AlafsTer?) | COSMIC |
| 17 | g.41769565del | CA645574072 | JUP | c.324del (p.Gln109ArgfsTer?) c.375del (p.Gln126ArgfsTer?) | COSMIC |
| 17 | g.41769563C>A | CA399505462 | JUP | c.323G>T (p.Gly108Val) c.374G>T (p.Gly125Val) | |
| 17 | g.41769563C>G | CA399505464 | JUP | c.323G>C (p.Gly108Ala) c.374G>C (p.Gly125Ala) | |
| 17 | g.41769563C>T | CA399505466 | JUP | c.323G>A (p.Gly108Glu) c.374G>A (p.Gly125Glu) | |
| 17 | g.41769564C>A | CA399505475 | JUP | c.322G>T (p.Gly108Trp) c.373G>T (p.Gly125Trp) | |
| 17 | g.41769564C>G | CA399505469 | JUP | c.322G>C (p.Gly108Arg) c.373G>C (p.Gly125Arg) | |
| 17 | g.41769564C>T | CA399505472 | JUP | c.322G>A (p.Gly108Arg) c.373G>A (p.Gly125Arg) | gnomAD v4 |
| 17 | g.41769565C>A | CA399505478 | JUP | c.321G>T (p.Glu107Asp) c.372G>T (p.Glu124Asp) | gnomAD v4 |
| 17 | g.41769565C= | CA2260176205 | JUP | c.321G= (p.Glu107=) c.372G= (p.Glu124=) | |
| 17 | g.41769565C>G | CA399505480 | JUP | c.321G>C (p.Glu107Asp) c.372G>C (p.Glu124Asp) | COSMIC |
| 17 | g.41769565C>T | CA8565523 | JUP | c.321G>A (p.Glu107=) c.372G>A (p.Glu124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769566T>A | CA399505490 | JUP | c.320A>T (p.Glu107Val) c.371A>T (p.Glu124Val) | |
| 17 | g.41769566T>C | CA399505492 | JUP | c.320A>G (p.Glu107Gly) c.371A>G (p.Glu124Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769566T>G | CA399505493 | JUP | c.320A>C (p.Glu107Ala) c.371A>C (p.Glu124Ala) | |
| 17 | g.41769566T= | CA2260176206 | JUP | c.320A= (p.Glu107=) c.371A= (p.Glu124=) | |
| 17 | g.41769567C>A | CA399505495 | JUP | c.319G>T (p.Glu107Ter) c.370G>T (p.Glu124Ter) | gnomAD v4 |
| 17 | g.41769567C= | CA2260176207 | JUP | c.319G= (p.Glu107=) c.370G= (p.Glu124=) | |
| 17 | g.41769567C>G | CA399505497 | JUP | c.319G>C (p.Glu107Gln) c.370G>C (p.Glu124Gln) | |
| 17 | g.41769567C>T | CA399505499 | JUP | c.319G>A (p.Glu107Lys) c.370G>A (p.Glu124Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769568C>A | CA500207693 | JUP | c.318G>T (p.Val106=) c.369G>T (p.Val123=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769568C= | CA2260176208 | JUP | c.318G= (p.Val106=) c.369G= (p.Val123=) | |
| 17 | g.41769568C>G | CA500207694 | JUP | c.318G>C (p.Val106=) c.369G>C (p.Val123=) | |
| 17 | g.41769568C>T | CA500207695 | JUP | c.318G>A (p.Val106=) c.369G>A (p.Val123=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769569A= | CA2260176209 | JUP | c.317T= (p.Val106=) c.368T= (p.Val123=) | |
| 17 | g.41769569A>C | CA399505504 | JUP | c.317T>G (p.Val106Gly) c.368T>G (p.Val123Gly) | dbSNP gnomAD v4 |
| 17 | g.41769569A>G | CA399505506 | JUP | c.317T>C (p.Val106Ala) c.368T>C (p.Val123Ala) | |
| 17 | g.41769569A>T | CA399505507 | JUP | c.317T>A (p.Val106Glu) c.368T>A (p.Val123Glu) | |
| 17 | g.41769570C>A | CA399505510 | JUP | c.316G>T (p.Val106Leu) c.367G>T (p.Val123Leu) | dbSNP gnomAD v4 |
| 17 | g.41769570C= | CA2260176210 | JUP | c.316G= (p.Val106=) c.367G= (p.Val123=) | |
| 17 | g.41769570C>G | CA399505512 | JUP | c.316G>C (p.Val106Leu) c.367G>C (p.Val123Leu) | gnomAD v4 |
| 17 | g.41769570C>T | CA399505508 | JUP | c.316G>A (p.Val106Met) c.367G>A (p.Val123Met) | |
| 17 | g.41769571C>A | CA399505513 | JUP | c.315G>T (p.Gln105His) c.366G>T (p.Gln122His) | ClinVar |
| 17 | g.41769571C= | CA2260176211 | JUP | c.315G= (p.Gln105=) c.366G= (p.Gln122=) | |
| 17 | g.41769571C>G | CA290700901 | JUP | c.315G>C (p.Gln105His) c.366G>C (p.Gln122His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769571C>T | CA500207697 | JUP | c.315G>A (p.Gln105=) c.366G>A (p.Gln122=) | ClinVar dbSNP |
| 17 | g.41769572T>A | CA399505516 | JUP | c.314A>T (p.Gln105Leu) c.365A>T (p.Gln122Leu) | |
| 17 | g.41769572T>C | CA399505518 | JUP | c.314A>G (p.Gln105Arg) c.365A>G (p.Gln122Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769572T>G | CA399505520 | JUP | c.314A>C (p.Gln105Pro) c.365A>C (p.Gln122Pro) | |
| 17 | g.41769572T= | CA2260176212 | JUP | c.314A= (p.Gln105=) c.365A= (p.Gln122=) | |
| 17 | g.41769573G>A | CA399505522 | JUP | c.313C>T (p.Gln105Ter) c.364C>T (p.Gln122Ter) | |
| 17 | g.41769573G>C | CA399505523 | JUP | c.313C>G (p.Gln105Glu) c.364C>G (p.Gln122Glu) | |
| 17 | g.41769573G>T | CA399505524 | JUP | c.313C>A (p.Gln105Lys) c.364C>A (p.Gln122Lys) | |
| 17 | g.41769574G>A | CA500207701 | JUP | c.312C>T (p.Thr104=) c.363C>T (p.Thr121=) | |
| 17 | g.41769574G>C | CA500207702 | JUP | c.312C>G (p.Thr104=) c.363C>G (p.Thr121=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769574G>T | CA500207703 | JUP | c.312C>A (p.Thr104=) c.363C>A (p.Thr121=) | |
| 17 | g.41769575G>A | CA399505527 | JUP | c.311C>T (p.Thr104Ile) c.362C>T (p.Thr121Ile) | |
| 17 | g.41769575G>C | CA399505528 | JUP | c.311C>G (p.Thr104Ser) c.362C>G (p.Thr121Ser) | ClinVar |
| 17 | g.41769575G= | CA2260176213 | JUP | c.311C= (p.Thr104=) c.362C= (p.Thr121=) | |
| 17 | g.41769575G>T | CA399505530 | JUP | c.311C>A (p.Thr104Asn) c.362C>A (p.Thr121Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769576T>A | CA399505532 | JUP | c.310A>T (p.Thr104Ser) c.361A>T (p.Thr121Ser) | |
| 17 | g.41769576T>C | CA399505534 | JUP | c.310A>G (p.Thr104Ala) c.361A>G (p.Thr121Ala) | |
| 17 | g.41769576T>G | CA399505535 | JUP | c.310A>C (p.Thr104Pro) c.361A>C (p.Thr121Pro) | dbSNP |
| 17 | g.41769576T= | CA2260176214 | JUP | c.310A= (p.Thr104=) c.361A= (p.Thr121=) | |
| 17 | g.41769577G>A | CA500207705 | JUP | c.309C>T (p.Ala103=) c.360C>T (p.Ala120=) | gnomAD v4 |
| 17 | g.41769577G>C | CA500207706 | JUP | c.309C>G (p.Ala103=) c.360C>G (p.Ala120=) | |
| 17 | g.41769577G>T | CA500207707 | JUP | c.309C>A (p.Ala103=) c.360C>A (p.Ala120=) | gnomAD v4 |
| 17 | g.41769578G>A | CA399505541 | JUP | c.308C>T (p.Ala103Val) c.359C>T (p.Ala120Val) | |
| 17 | g.41769578G>C | CA399505537 | JUP | c.308C>G (p.Ala103Gly) c.359C>G (p.Ala120Gly) | ClinVar dbSNP |
| 17 | g.41769578G>T | CA399505538 | JUP | c.308C>A (p.Ala103Asp) c.359C>A (p.Ala120Asp) | gnomAD v4 |
| 17 | g.41769579C>A | CA399505543 | JUP | c.307G>T (p.Ala103Ser) c.358G>T (p.Ala120Ser) | |
| 17 | g.41769579C>G | CA399505545 | JUP | c.307G>C (p.Ala103Pro) c.358G>C (p.Ala120Pro) | |
| 17 | g.41769579C>T | CA399505551 | JUP | c.307G>A (p.Ala103Thr) c.358G>A (p.Ala120Thr) | |
| 17 | g.41769580C>A | CA500207710 | JUP | c.306G>T (p.Leu102=) c.357G>T (p.Leu119=) | |
| 17 | g.41769580C>G | CA500207712 | JUP | c.306G>C (p.Leu102=) c.357G>C (p.Leu119=) | |
| 17 | g.41769580C>T | CA500207711 | JUP | c.306G>A (p.Leu102=) c.357G>A (p.Leu119=) | |
| 17 | g.41769581A>C | CA399505553 | JUP | c.305T>G (p.Leu102Arg) c.356T>G (p.Leu119Arg) | |
| 17 | g.41769581A>G | CA399505556 | JUP | c.305T>C (p.Leu102Pro) c.356T>C (p.Leu119Pro) | |
| 17 | g.41769581A>T | CA399505558 | JUP | c.305T>A (p.Leu102Gln) c.356T>A (p.Leu119Gln) | |
| 17 | g.41769582G>A | CA500207718 | JUP | c.304C>T (p.Leu102=) c.355C>T (p.Leu119=) | |
| 17 | g.41769582G>C | CA399505559 | JUP | c.304C>G (p.Leu102Val) c.355C>G (p.Leu119Val) | |
| 17 | g.41769582G>T | CA399505560 | JUP | c.304C>A (p.Leu102Met) c.355C>A (p.Leu119Met) | |
| 17 | g.41769583C>A | CA500207726 | JUP | c.303G>T (p.Leu101=) c.354G>T (p.Leu118=) | |
| 17 | g.41769583C>G | CA500207721 | JUP | c.303G>C (p.Leu101=) c.354G>C (p.Leu118=) | |
| 17 | g.41769583C>T | CA500207723 | JUP | c.303G>A (p.Leu101=) c.354G>A (p.Leu118=) | |
| 17 | g.41769583_41769586delinsCAGA | CA2260176215 | JUP | c.300_303delinsTCTG (p.Leu100=) c.351_354delinsTCTG (p.Leu117=) | |
| 17 | g.41769584A>C | CA399505568 | JUP | c.302T>G (p.Leu101Arg) c.353T>G (p.Leu118Arg) | |
| 17 | g.41769584A>G | CA399505570 | JUP | c.302T>C (p.Leu101Pro) c.353T>C (p.Leu118Pro) | |
| 17 | g.41769584A>T | CA399505572 | JUP | c.302T>A (p.Leu101Gln) c.353T>A (p.Leu118Gln) | |
| 17 | g.41769586_41769588del | CA2260176216 | JUP | c.300_302del (p.Leu101del) c.351_353del (p.Leu118del) | dbSNP |
| 17 | g.41769585G>A | CA500207728 | JUP | c.301C>T (p.Leu101=) c.352C>T (p.Leu118=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769585G>C | CA399505579 | JUP | c.301C>G (p.Leu101Val) c.352C>G (p.Leu118Val) | |
| 17 | g.41769585G= | CA2260176217 | JUP | c.301C= (p.Leu101=) c.352C= (p.Leu118=) | |
| 17 | g.41769585G>T | CA399505577 | JUP | c.301C>A (p.Leu101Met) c.352C>A (p.Leu118Met) | |
| 17 | g.41769586A>C | CA500207732 | JUP | c.300T>G (p.Leu100=) c.351T>G (p.Leu117=) | |
| 17 | g.41769586A>G | CA500207734 | JUP | c.300T>C (p.Leu100=) c.351T>C (p.Leu117=) | |
| 17 | g.41769586A>T | CA500207735 | JUP | c.300T>A (p.Leu100=) c.351T>A (p.Leu117=) | |
| 17 | g.41769587A>C | CA399505580 | JUP | c.299T>G (p.Leu100Arg) c.350T>G (p.Leu117Arg) | |
| 17 | g.41769587A>G | CA399505582 | JUP | c.299T>C (p.Leu100Pro) c.350T>C (p.Leu117Pro) | gnomAD v4 |
| 17 | g.41769587A>T | CA399505584 | JUP | c.299T>A (p.Leu100His) c.350T>A (p.Leu117His) | |
| 17 | g.41769588G>A | CA399505585 | JUP | c.298C>T (p.Leu100Phe) c.349C>T (p.Leu117Phe) | ClinVar dbSNP |
| 17 | g.41769588G>C | CA399505586 | JUP | c.298C>G (p.Leu100Val) c.349C>G (p.Leu117Val) | |
| 17 | g.41769588G= | CA2260176218 | JUP | c.298C= (p.Leu100=) c.349C= (p.Leu117=) | |
| 17 | g.41769588G>T | CA399505588 | JUP | c.298C>A (p.Leu100Ile) c.349C>A (p.Leu117Ile) | |
| 17 | g.41769589C>A | CA500207739 | JUP | c.297G>T (p.Ser99=) c.348G>T (p.Ser116=) | |
| 17 | g.41769589C= | CA2260176219 | JUP | c.297G= (p.Ser99=) c.348G= (p.Ser116=) | |
| 17 | g.41769589C>G | CA500207740 | JUP | c.297G>C (p.Ser99=) c.348G>C (p.Ser116=) | gnomAD v4 |
| 17 | g.41769589C>T | CA137198 | JUP | c.297G>A (p.Ser99=) c.348G>A (p.Ser116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769590G>A | CA8565524 | JUP | c.296C>T (p.Ser99Leu) c.347C>T (p.Ser116Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769590G>C | CA399505593 | JUP | c.296C>G (p.Ser99Trp) c.347C>G (p.Ser116Trp) | |
| 17 | g.41769590G= | CA2260176220 | JUP | c.296C= (p.Ser99=) c.347C= (p.Ser116=) | |
| 17 | g.41769590G>T | CA399505596 | JUP | c.296C>A (p.Ser99Ter) c.347C>A (p.Ser116Ter) | |
| 17 | g.41769591A>C | CA399505599 | JUP | c.295T>G (p.Ser99Ala) c.346T>G (p.Ser116Ala) | |
| 17 | g.41769591A>G | CA399505600 | JUP | c.295T>C (p.Ser99Pro) c.346T>C (p.Ser116Pro) | |
| 17 | g.41769591A>T | CA399505602 | JUP | c.295T>A (p.Ser99Thr) c.346T>A (p.Ser116Thr) | |
| 17 | g.41769592G>A | CA500207749 | JUP | c.294C>T (p.Ser98=) c.345C>T (p.Ser115=) | ClinVar dbSNP |
| 17 | g.41769592G>C | CA399505606 | JUP | c.294C>G (p.Ser98Arg) c.345C>G (p.Ser115Arg) | gnomAD v4 |
| 17 | g.41769592G>T | CA399505603 | JUP | c.294C>A (p.Ser98Arg) c.345C>A (p.Ser115Arg) | |
| 17 | g.41769593C>A | CA399505607 | JUP | c.293G>T (p.Ser98Ile) c.344G>T (p.Ser115Ile) | |
| 17 | g.41769593C= | CA2260176221 | JUP | c.293G= (p.Ser98=) c.344G= (p.Ser115=) | |
| 17 | g.41769593C>G | CA399505610 | JUP | c.293G>C (p.Ser98Thr) c.344G>C (p.Ser115Thr) | gnomAD v4 |
| 17 | g.41769593C>T | CA399505612 | JUP | c.293G>A (p.Ser98Asn) c.344G>A (p.Ser115Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769594T>A | CA399505613 | JUP | c.292A>T (p.Ser98Cys) c.343A>T (p.Ser115Cys) | |
| 17 | g.41769594T>C | CA399505616 | JUP | c.292A>G (p.Ser98Gly) c.343A>G (p.Ser115Gly) | ClinVar gnomAD v4 |
| 17 | g.41769594T>G | CA399505618 | JUP | c.292A>C (p.Ser98Arg) c.343A>C (p.Ser115Arg) | |
| 17 | g.41769595G>A | CA500207754 | JUP | c.291C>T (p.Asp97=) c.342C>T (p.Asp114=) | |
| 17 | g.41769595G>C | CA399505620 | JUP | c.291C>G (p.Asp97Glu) c.342C>G (p.Asp114Glu) | gnomAD v4 |
| 17 | g.41769595G= | CA2260176222 | JUP | c.291C= (p.Asp97=) c.342C= (p.Asp114=) | |
| 17 | g.41769595G>T | CA290700906 | JUP | c.291C>A (p.Asp97Glu) c.342C>A (p.Asp114Glu) | dbSNP gnomAD v4 |
| 17 | g.41769596T>A | CA8565525 | JUP | c.290A>T (p.Asp97Val) c.341A>T (p.Asp114Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769596T>C | CA399505626 | JUP | c.290A>G (p.Asp97Gly) c.341A>G (p.Asp114Gly) | dbSNP |
| 17 | g.41769596T>G | CA399505627 | JUP | c.290A>C (p.Asp97Ala) c.341A>C (p.Asp114Ala) | |
| 17 | g.41769596T= | CA2260176223 | JUP | c.290A= (p.Asp97=) c.341A= (p.Asp114=) | |
| 17 | g.41769597C>A | CA399505629 | JUP | c.289G>T (p.Asp97Tyr) c.340G>T (p.Asp114Tyr) | |
| 17 | g.41769597C>G | CA399505632 | JUP | c.289G>C (p.Asp97His) c.340G>C (p.Asp114His) | ClinVar dbSNP |
| 17 | g.41769597C>T | CA399505639 | JUP | c.289G>A (p.Asp97Asn) c.340G>A (p.Asp114Asn) | |
| 17 | g.41769598C>A | CA399505641 | JUP | c.288G>T (p.Glu96Asp) c.339G>T (p.Glu113Asp) | |
| 17 | g.41769598C>G | CA399505640 | JUP | c.288G>C (p.Glu96Asp) c.339G>C (p.Glu113Asp) | |
| 17 | g.41769598C>T | CA500207760 | JUP | c.288G>A (p.Glu96=) c.339G>A (p.Glu113=) | |
| 17 | g.41769599T>A | CA399505644 | JUP | c.287A>T (p.Glu96Val) c.338A>T (p.Glu113Val) | |
| 17 | g.41769599T>C | CA399505647 | JUP | c.287A>G (p.Glu96Gly) c.338A>G (p.Glu113Gly) | |
| 17 | g.41769599T>G | CA399505645 | JUP | c.287A>C (p.Glu96Ala) c.338A>C (p.Glu113Ala) | |
| 17 | g.41769600C>A | CA399505650 | JUP | c.286G>T (p.Glu96Ter) c.337G>T (p.Glu113Ter) | gnomAD v4 |
| 17 | g.41769600C= | CA2260176224 | JUP | c.286G= (p.Glu96=) c.337G= (p.Glu113=) | |
| 17 | g.41769600C>G | CA399505654 | JUP | c.286G>C (p.Glu96Gln) c.337G>C (p.Glu113Gln) | |
| 17 | g.41769600C>T | CA308451 | JUP | c.286G>A (p.Glu96Lys) c.337G>A (p.Glu113Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769601G>A | CA500207767 | JUP | c.285C>T (p.Gly95=) c.336C>T (p.Gly112=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769601G>C | CA500207769 | JUP | c.285C>G (p.Gly95=) c.336C>G (p.Gly112=) | gnomAD v4 |
| 17 | g.41769601G= | CA2260176225 | JUP | c.285C= (p.Gly95=) c.336C= (p.Gly112=) | |
| 17 | g.41769601G>T | CA500207770 | JUP | c.285C>A (p.Gly95=) c.336C>A (p.Gly112=) | ClinVar |
| 17 | g.41769602C>A | CA399505657 | JUP | c.284G>T (p.Gly95Val) c.335G>T (p.Gly112Val) | |
| 17 | g.41769602C>G | CA399505661 | JUP | c.284G>C (p.Gly95Ala) c.335G>C (p.Gly112Ala) | |
| 17 | g.41769602C>T | CA399505659 | JUP | c.284G>A (p.Gly95Asp) c.335G>A (p.Gly112Asp) | |
| 17 | g.41769603C>A | CA399505664 | JUP | c.283G>T (p.Gly95Cys) c.334G>T (p.Gly112Cys) | |
| 17 | g.41769603C>G | CA399505667 | JUP | c.283G>C (p.Gly95Arg) c.334G>C (p.Gly112Arg) | |
| 17 | g.41769603C>T | CA399505669 | JUP | c.283G>A (p.Gly95Ser) c.334G>A (p.Gly112Ser) | |
| 17 | g.41769604T>A | CA500207775 | JUP | c.282A>T (p.Ser94=) c.333A>T (p.Ser111=) | |
| 17 | g.41769604T>C | CA500207777 | JUP | c.282A>G (p.Ser94=) c.333A>G (p.Ser111=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769604T>G | CA500207776 | JUP | c.282A>C (p.Ser94=) c.333A>C (p.Ser111=) | dbSNP gnomAD v4 |
| 17 | g.41769604T= | CA2260176226 | JUP | c.282A= (p.Ser94=) c.333A= (p.Ser111=) | |
| 17 | g.41769605G>A | CA399505672 | JUP | c.281C>T (p.Ser94Leu) c.332C>T (p.Ser111Leu) | dbSNP gnomAD v2 |
| 17 | g.41769605G>C | CA399505675 | JUP | c.281C>G (p.Ser94Ter) c.332C>G (p.Ser111Ter) | |
| 17 | g.41769605G= | CA2260176227 | JUP | c.281C= (p.Ser94=) c.332C= (p.Ser111=) | |
| 17 | g.41769605G>T | CA399505677 | JUP | c.281C>A (p.Ser94Ter) c.332C>A (p.Ser111Ter) | |
| 17 | g.41769606A>C | CA399505680 | JUP | c.280T>G (p.Ser94Ala) c.331T>G (p.Ser111Ala) | |
| 17 | g.41769606A>G | CA399505683 | JUP | c.280T>C (p.Ser94Pro) c.331T>C (p.Ser111Pro) | |
| 17 | g.41769606A>T | CA399505691 | JUP | c.280T>A (p.Ser94Thr) c.331T>A (p.Ser111Thr) | |
| 17 | g.41769607C>A | CA500207785 | JUP | c.279G>T (p.Val93=) c.330G>T (p.Val110=) | dbSNP |
| 17 | g.41769607C= | CA2260176228 | JUP | c.279G= (p.Val93=) c.330G= (p.Val110=) | |
| 17 | g.41769607C>G | CA500207781 | JUP | c.279G>C (p.Val93=) c.330G>C (p.Val110=) | |
| 17 | g.41769607C>T | CA500207783 | JUP | c.279G>A (p.Val93=) c.330G>A (p.Val110=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769608A= | CA2260176229 | JUP | c.278T= (p.Val93=) c.329T= (p.Val110=) | |
| 17 | g.41769608A>C | CA399505692 | JUP | c.278T>G (p.Val93Gly) c.329T>G (p.Val110Gly) | ClinVar dbSNP |
| 17 | g.41769608A>G | CA399505694 | JUP | c.278T>C (p.Val93Ala) c.329T>C (p.Val110Ala) | dbSNP gnomAD v4 |
| 17 | g.41769608A>T | CA399505696 | JUP | c.278T>A (p.Val93Glu) c.329T>A (p.Val110Glu) | |
| 17 | g.41769609C>A | CA399505700 | JUP | c.277G>T (p.Val93Leu) c.328G>T (p.Val110Leu) | gnomAD v4 |
| 17 | g.41769609C= | CA2260176230 | JUP | c.277G= (p.Val93=) c.328G= (p.Val110=) | |
| 17 | g.41769609C>G | CA399505709 | JUP | c.277G>C (p.Val93Leu) c.328G>C (p.Val110Leu) | |
| 17 | g.41769609C>T | CA399505702 | JUP | c.277G>A (p.Val93Met) c.328G>A (p.Val110Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769610A>C | CA500207792 | JUP | c.276T>G (p.Gly92=) c.327T>G (p.Gly109=) | |
| 17 | g.41769610A>G | CA500207793 | JUP | c.276T>C (p.Gly92=) c.327T>C (p.Gly109=) | |
| 17 | g.41769610A>T | CA500207794 | JUP | c.276T>A (p.Gly92=) c.327T>A (p.Gly109=) | |
| 17 | g.41769611C>A | CA399505712 | JUP | c.275G>T (p.Gly92Val) c.326G>T (p.Gly109Val) | gnomAD v4 |
| 17 | g.41769611C= | CA2260176231 | JUP | c.275G= (p.Gly92=) c.326G= (p.Gly109=) | |
| 17 | g.41769611C>G | CA399505714 | JUP | c.275G>C (p.Gly92Ala) c.326G>C (p.Gly109Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769611C>T | CA8565526 | JUP | c.275G>A (p.Gly92Asp) c.326G>A (p.Gly109Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769612C>A | CA8565527 | JUP | c.274G>T (p.Gly92Cys) c.325G>T (p.Gly109Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769612C= | CA2260176232 | JUP | c.274G= (p.Gly92=) c.325G= (p.Gly109=) | |
| 17 | g.41769612C>G | CA399505729 | JUP | c.274G>C (p.Gly92Arg) c.325G>C (p.Gly109Arg) | |
| 17 | g.41769612C>T | CA399505731 | JUP | c.274G>A (p.Gly92Ser) c.325G>A (p.Gly109Ser) | |
| 17 | g.41769613A>C | CA500207802 | JUP | c.273T>G (p.Pro91=) c.324T>G (p.Pro108=) | |
| 17 | g.41769613A>G | CA500207803 | JUP | c.273T>C (p.Pro91=) c.324T>C (p.Pro108=) | gnomAD v4 |
| 17 | g.41769613A>T | CA500207806 | JUP | c.273T>A (p.Pro91=) c.324T>A (p.Pro108=) | |
| 17 | g.41769614G>A | CA399505734 | JUP | c.272C>T (p.Pro91Leu) c.323C>T (p.Pro108Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769614G>C | CA399505736 | JUP | c.272C>G (p.Pro91Arg) c.323C>G (p.Pro108Arg) | |
| 17 | g.41769614G= | CA2260176233 | JUP | c.272C= (p.Pro91=) c.323C= (p.Pro108=) | |
| 17 | g.41769614G>T | CA399505739 | JUP | c.272C>A (p.Pro91His) c.323C>A (p.Pro108His) | |
| 17 | g.41769615G>A | CA399505749 | JUP | c.271C>T (p.Pro91Ser) c.322C>T (p.Pro108Ser) | gnomAD v4 |
| 17 | g.41769615G>C | CA399505747 | JUP | c.271C>G (p.Pro91Ala) c.322C>G (p.Pro108Ala) | |
| 17 | g.41769615G>T | CA399505745 | JUP | c.271C>A (p.Pro91Thr) c.322C>A (p.Pro108Thr) | |
| 17 | g.41769616G>A | CA500207811 | JUP | c.270C>T (p.Cys90=) c.321C>T (p.Cys107=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769616G>C | CA399505751 | JUP | c.270C>G (p.Cys90Trp) c.321C>G (p.Cys107Trp) | |
| 17 | g.41769616G= | CA2260176234 | JUP | c.270C= (p.Cys90=) c.321C= (p.Cys107=) | |
| 17 | g.41769616G>T | CA399505753 | JUP | c.270C>A (p.Cys90Ter) c.321C>A (p.Cys107Ter) | |
| 17 | g.41769617C>A | CA399505757 | JUP | c.269G>T (p.Cys90Phe) c.320G>T (p.Cys107Phe) | ClinVar gnomAD v4 |
| 17 | g.41769617C>G | CA399505760 | JUP | c.269G>C (p.Cys90Ser) c.320G>C (p.Cys107Ser) | |
| 17 | g.41769617C>T | CA399505761 | JUP | c.269G>A (p.Cys90Tyr) c.320G>A (p.Cys107Tyr) | |
| 17 | g.41769618A>C | CA399505763 | JUP | c.268T>G (p.Cys90Gly) c.319T>G (p.Cys107Gly) | |
| 17 | g.41769618A>G | CA399505764 | JUP | c.268T>C (p.Cys90Arg) c.319T>C (p.Cys107Arg) | |
| 17 | g.41769618A>T | CA399505766 | JUP | c.268T>A (p.Cys90Ser) c.319T>A (p.Cys107Ser) | |
| 17 | g.41769619C>A | CA399505768 | JUP | c.267G>T (p.Met89Ile) c.318G>T (p.Met106Ile) | |
| 17 | g.41769619C>G | CA399505769 | JUP | c.267G>C (p.Met89Ile) c.318G>C (p.Met106Ile) | |
| 17 | g.41769619C>T | CA399505771 | JUP | c.267G>A (p.Met89Ile) c.318G>A (p.Met106Ile) | |
| 17 | g.41769620A= | CA2260176235 | JUP | c.266T= (p.Met89=) c.317T= (p.Met106=) | |
| 17 | g.41769620A>C | CA399505777 | JUP | c.266T>G (p.Met89Arg) c.317T>G (p.Met106Arg) | |
| 17 | g.41769620A>G | CA8565528 | JUP | c.266T>C (p.Met89Thr) c.317T>C (p.Met106Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769620A>T | CA399505773 | JUP | c.266T>A (p.Met89Lys) c.317T>A (p.Met106Lys) | ClinVar |
| 17 | g.41769621T>A | CA399505786 | JUP | c.265A>T (p.Met89Leu) c.316A>T (p.Met106Leu) | |
| 17 | g.41769621T>C | CA399505792 | JUP | c.265A>G (p.Met89Val) c.316A>G (p.Met106Val) | gnomAD v4 |
| 17 | g.41769621T>G | CA399505803 | JUP | c.265A>C (p.Met89Leu) c.316A>C (p.Met106Leu) | |
| 17 | g.41769622G>A | CA500207824 | JUP | c.264C>T (p.Ala88=) c.315C>T (p.Ala105=) | |
| 17 | g.41769622G>C | CA500207825 | JUP | c.264C>G (p.Ala88=) c.315C>G (p.Ala105=) | |
| 17 | g.41769622G>T | CA500207826 | JUP | c.264C>A (p.Ala88=) c.315C>A (p.Ala105=) | |
| 17 | g.41769623G>A | CA399505807 | JUP | c.263C>T (p.Ala88Val) c.314C>T (p.Ala105Val) | gnomAD v4 |
| 17 | g.41769623G>C | CA8565529 | JUP | c.263C>G (p.Ala88Gly) c.314C>G (p.Ala105Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769623G= | CA2260176236 | JUP | c.263C= (p.Ala88=) c.314C= (p.Ala105=) | |
| 17 | g.41769623G>T | CA8565530 | JUP | c.263C>A (p.Ala88Asp) c.314C>A (p.Ala105Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769623_41769624delinsGC | CA2260176237 | JUP | c.262_263delinsGC (p.Ala88=) c.313_314delinsGC (p.Ala105=) | |
| 17 | g.41769623_41769624delinsTT | CA916081885 | JUP | c.262_263delinsAA (p.Ala88Asn) c.313_314delinsAA (p.Ala105Asn) | ClinVar dbSNP |
| 17 | g.41769624C>A | CA399505817 | JUP | c.262G>T (p.Ala88Ser) c.313G>T (p.Ala105Ser) | |
| 17 | g.41769624C= | CA2260176238 | JUP | c.262G= (p.Ala88=) c.313G= (p.Ala105=) | |
| 17 | g.41769624C>G | CA399505820 | JUP | c.262G>C (p.Ala88Pro) c.313G>C (p.Ala105Pro) | |
| 17 | g.41769624C>T | CA8565531 | JUP | c.262G>A (p.Ala88Thr) c.313G>A (p.Ala105Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769625C>A | CA399505829 | JUP | c.261G>T (p.Glu87Asp) c.312G>T (p.Glu104Asp) | |
| 17 | g.41769625C= | CA2260176239 | JUP | c.261G= (p.Glu87=) c.312G= (p.Glu104=) | |
| 17 | g.41769625C>G | CA399505831 | JUP | c.261G>C (p.Glu87Asp) c.312G>C (p.Glu104Asp) | |
| 17 | g.41769625C>T | CA8565532 | JUP | c.261G>A (p.Glu87=) c.312G>A (p.Glu104=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769626T>A | CA399505841 | JUP | c.260A>T (p.Glu87Val) c.260A>T c.311A>T (p.Glu104Val) | gnomAD v4 |
| 17 | g.41769626T>C | CA399505846 | JUP | c.260A>G (p.Glu87Gly) c.260A>G c.311A>G (p.Glu104Gly) | gnomAD v4 |
| 17 | g.41769626T>G | CA399505839 | JUP | c.260A>C (p.Glu87Ala) c.260A>C c.311A>C (p.Glu104Ala) | |
| 17 | g.41769627C>A | CA399505854 | JUP | c.259G>T (p.Glu87Ter) c.259G>T c.310G>T (p.Glu104Ter) | |
| 17 | g.41769627C= | CA2260176240 | JUP | c.259G= (p.Glu87=) c.259G= c.310G= (p.Glu104=) | |
| 17 | g.41769627C>G | CA399505849 | JUP | c.259G>C (p.Glu87Gln) c.259G>C c.310G>C (p.Glu104Gln) | gnomAD v4 |
| 17 | g.41769627C>T | CA399505852 | JUP | c.259G>A (p.Glu87Lys) c.259G>A c.310G>A (p.Glu104Lys) | dbSNP gnomAD v2 |
| 17 | g.41769628C>A | CA500207838 | JUP | c.258G>T (p.Arg86=) c.309G>T (p.Arg103=) | |
| 17 | g.41769628C= | CA2260176241 | JUP | c.258G= (p.Arg86=) c.309G= (p.Arg103=) | |
| 17 | g.41769628C>G | CA500207840 | JUP | c.258G>C (p.Arg86=) c.309G>C (p.Arg103=) | |
| 17 | g.41769628C>T | CA8565533 | JUP | c.258G>A (p.Arg86=) c.309G>A (p.Arg103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769629C>A | CA399505859 | JUP | c.257G>T (p.Arg86Leu) c.308G>T (p.Arg103Leu) | |
| 17 | g.41769629C= | CA2260176242 | JUP | c.257G= (p.Arg86=) c.308G= (p.Arg103=) | |
| 17 | g.41769629C>G | CA8565534 | JUP | c.257G>C (p.Arg86Pro) c.308G>C (p.Arg103Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769629C>T | CA8565535 | JUP | c.257G>A (p.Arg86Gln) c.308G>A (p.Arg103Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769630G>A | CA8565536 | JUP | c.256C>T (p.Arg86Trp) c.307C>T (p.Arg103Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769630G>C | CA399505861 | JUP | c.256C>G (p.Arg86Gly) c.307C>G (p.Arg103Gly) | |
| 17 | g.41769630G= | CA2260176243 | JUP | c.256C= (p.Arg86=) c.307C= (p.Arg103=) | |
| 17 | g.41769630G>T | CA500207843 | JUP | c.256C>A (p.Arg86=) c.307C>A (p.Arg103=) | gnomAD v4 |
| 17 | g.41769631C>A | CA500207847 | JUP | c.255G>T (p.Val85=) c.306G>T (p.Val102=) | |
| 17 | g.41769631C>G | CA500207844 | JUP | c.255G>C (p.Val85=) c.306G>C (p.Val102=) | |
| 17 | g.41769631C>T | CA500207845 | JUP | c.255G>A (p.Val85=) c.306G>A (p.Val102=) | |
| 17 | g.41769632A>C | CA399505862 | JUP | c.254T>G (p.Val85Gly) c.305T>G (p.Val102Gly) | |
| 17 | g.41769632A>G | CA399505864 | JUP | c.254T>C (p.Val85Ala) c.305T>C (p.Val102Ala) | |
| 17 | g.41769632A>T | CA399505874 | JUP | c.254T>A (p.Val85Glu) c.305T>A (p.Val102Glu) | |
| 17 | g.41769633C>A | CA399505880 | JUP | c.253G>T (p.Val85Leu) c.304G>T (p.Val102Leu) | gnomAD v4 |
| 17 | g.41769633C= | CA2260176244 | JUP | c.253G= (p.Val85=) c.304G= (p.Val102=) | |
| 17 | g.41769633C>G | CA8565537 | JUP | c.253G>C (p.Val85Leu) c.304G>C (p.Val102Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769633C>T | CA8565538 | JUP | c.253G>A (p.Val85Met) c.304G>A (p.Val102Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769634C>A | CA500207853 | JUP | c.252G>T (p.Arg84=) c.303G>T (p.Arg101=) | |
| 17 | g.41769634C= | CA2260176245 | JUP | c.252G= (p.Arg84=) c.303G= (p.Arg101=) | |
| 17 | g.41769634C>G | CA500207855 | JUP | c.252G>C (p.Arg84=) c.303G>C (p.Arg101=) | |
| 17 | g.41769634C>T | CA500207856 | JUP | c.252G>A (p.Arg84=) c.303G>A (p.Arg101=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769635C>A | CA399505884 | JUP | c.251G>T (p.Arg84Leu) c.302G>T (p.Arg101Leu) | gnomAD v4 |
| 17 | g.41769635C= | CA2260176246 | JUP | c.251G= (p.Arg84=) c.302G= (p.Arg101=) | |
| 17 | g.41769635C>G | CA399505888 | JUP | c.251G>C (p.Arg84Pro) c.302G>C (p.Arg101Pro) | gnomAD v4 |
| 17 | g.41769635C>T | CA8565539 | JUP | c.251G>A (p.Arg84Gln) c.302G>A (p.Arg101Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41769636G>A | CA8565540 | JUP | c.250C>T (p.Arg84Trp) c.301C>T (p.Arg101Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769636G>C | CA399505898 | JUP | c.250C>G (p.Arg84Gly) c.301C>G (p.Arg101Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769636G= | CA2260176247 | JUP | c.250C= (p.Arg84=) c.301C= (p.Arg101=) | |
| 17 | g.41769636G>T | CA500207858 | JUP | c.250C>A (p.Arg84=) c.301C>A (p.Arg101=) | |
| 17 | g.41769637T>A | CA399505900 | JUP | c.249A>T (p.Lys83Asn) c.300A>T (p.Lys100Asn) | |
| 17 | g.41769637T>C | CA500207860 | JUP | c.249A>G (p.Lys83=) c.300A>G (p.Lys100=) | |
| 17 | g.41769637T>G | CA399505902 | JUP | c.249A>C (p.Lys83Asn) c.300A>C (p.Lys100Asn) | |
| 17 | g.41769638T>A | CA399505903 | JUP | c.248A>T (p.Lys83Ile) c.299A>T (p.Lys100Ile) | |
| 17 | g.41769638T>C | CA8565541 | JUP | c.248A>G (p.Lys83Arg) c.299A>G (p.Lys100Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769638T>G | CA399505919 | JUP | c.248A>C (p.Lys83Thr) c.299A>C (p.Lys100Thr) | |
| 17 | g.41769638T= | CA2260176248 | JUP | c.248A= (p.Lys83=) c.299A= (p.Lys100=) | |
| 17 | g.41769639T>A | CA399505923 | JUP | c.247A>T (p.Lys83Ter) c.298A>T (p.Lys100Ter) | |
| 17 | g.41769639T>C | CA399505924 | JUP | c.247A>G (p.Lys83Glu) c.298A>G (p.Lys100Glu) | |
| 17 | g.41769639T>G | CA399505927 | JUP | c.247A>C (p.Lys83Gln) c.298A>C (p.Lys100Gln) | |
| 17 | g.41769640G>A | CA500207874 | JUP | c.246C>T (p.Ala82=) c.297C>T (p.Ala99=) | gnomAD v4 |
| 17 | g.41769640G>C | CA500207877 | JUP | c.246C>G (p.Ala82=) c.297C>G (p.Ala99=) | |
| 17 | g.41769640G>T | CA500207876 | JUP | c.246C>A (p.Ala82=) c.297C>A (p.Ala99=) | gnomAD v4 |
| 17 | g.41769641G>A | CA399505931 | JUP | c.245C>T (p.Ala82Val) c.296C>T (p.Ala99Val) | gnomAD v4 |
| 17 | g.41769641G>C | CA399505938 | JUP | c.245C>G (p.Ala82Gly) c.296C>G (p.Ala99Gly) | |
| 17 | g.41769641G>T | CA399505928 | JUP | c.245C>A (p.Ala82Asp) c.296C>A (p.Ala99Asp) | gnomAD v4 |
| 17 | g.41769642C>A | CA399505942 | JUP | c.244G>T (p.Ala82Ser) c.295G>T (p.Ala99Ser) | dbSNP gnomAD v4 |
| 17 | g.41769642C= | CA2260176249 | JUP | c.244G= (p.Ala82=) c.295G= (p.Ala99=) | |
| 17 | g.41769642C>G | CA399505944 | JUP | c.244G>C (p.Ala82Pro) c.295G>C (p.Ala99Pro) | |
| 17 | g.41769642C>T | CA399505948 | JUP | c.244G>A (p.Ala82Thr) c.295G>A (p.Ala99Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769643C>A | CA399505949 | JUP | c.243G>T (p.Arg81Ser) c.294G>T (p.Arg98Ser) | gnomAD v4 |
| 17 | g.41769643C= | CA2260176250 | JUP | c.243G= (p.Arg81=) c.294G= (p.Arg98=) | |
| 17 | g.41769643C>G | CA399505952 | JUP | c.243G>C (p.Arg81Ser) c.294G>C (p.Arg98Ser) | |
| 17 | g.41769643C>T | CA500207889 | JUP | c.243G>A (p.Arg81=) c.294G>A (p.Arg98=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769644C>A | CA399505960 | JUP | c.242G>T (p.Arg81Met) c.293G>T (p.Arg98Met) | |
| 17 | g.41769644C>G | CA399505957 | JUP | c.242G>C (p.Arg81Thr) c.293G>C (p.Arg98Thr) | |
| 17 | g.41769644C>T | CA399505956 | JUP | c.242G>A (p.Arg81Lys) c.293G>A (p.Arg98Lys) | |
| 17 | g.41769645T>A | CA399505970 | JUP | c.241A>T (p.Arg81Trp) c.292A>T (p.Arg98Trp) | |
| 17 | g.41769645T>C | CA399505971 | JUP | c.241A>G (p.Arg81Gly) c.292A>G (p.Arg98Gly) | gnomAD v4 |
| 17 | g.41769645T>G | CA500207899 | JUP | c.241A>C (p.Arg81=) c.292A>C (p.Arg98=) | |
| 17 | g.41769646G>A | CA8565542 | JUP | c.240C>T (p.Ala80=) c.291C>T (p.Ala97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769646G>C | CA500207900 | JUP | c.240C>G (p.Ala80=) c.291C>G (p.Ala97=) | |
| 17 | g.41769646G= | CA2260176251 | JUP | c.240C= (p.Ala80=) c.291C= (p.Ala97=) | |
| 17 | g.41769646G>T | CA500207901 | JUP | c.240C>A (p.Ala80=) c.291C>A (p.Ala97=) |