| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41769419G>A | CA8565489 | JUP | c.467C>T (p.Pro156Leu) c.518C>T (p.Pro173Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769419G>C | CA399504725 | JUP | c.467C>G (p.Pro156Arg) c.518C>G (p.Pro173Arg) | |
| 17 | g.41769419G= | CA2260176127 | JUP | c.467C= (p.Pro156=) c.518C= (p.Pro173=) | |
| 17 | g.41769419G>T | CA399504731 | JUP | c.467C>A (p.Pro156Gln) c.518C>A (p.Pro173Gln) | gnomAD v4 |
| 17 | g.41769420_41769421del | CA2695225896 | JUP | c.466_467del (p.Pro156GlyfsTer?) c.517_518del (p.Pro173GlyfsTer?) | |
| 17 | g.41769420G>A | CA399504736 | JUP | c.466C>T (p.Pro156Ser) c.517C>T (p.Pro173Ser) | |
| 17 | g.41769420G>C | CA290700780 | JUP | c.466C>G (p.Pro156Ala) c.517C>G (p.Pro173Ala) | dbSNP gnomAD v4 |
| 17 | g.41769420G= | CA2260176128 | JUP | c.466C= (p.Pro156=) c.517C= (p.Pro173=) | |
| 17 | g.41769420G>T | CA399504733 | JUP | c.466C>A (p.Pro156Thr) c.517C>A (p.Pro173Thr) | gnomAD v4 |
| 17 | g.41769421G>A | CA500207563 | JUP | c.465C>T (p.Asp155=) c.516C>T (p.Asp172=) | |
| 17 | g.41769421G>C | CA399504738 | JUP | c.465C>G (p.Asp155Glu) c.516C>G (p.Asp172Glu) | dbSNP |
| 17 | g.41769421G= | CA2260176129 | JUP | c.465C= (p.Asp155=) c.516C= (p.Asp172=) | |
| 17 | g.41769421G>T | CA399504740 | JUP | c.465C>A (p.Asp155Glu) c.516C>A (p.Asp172Glu) | gnomAD v4 |
| 17 | g.41769422T>A | CA399504742 | JUP | c.464A>T (p.Asp155Val) c.515A>T (p.Asp172Val) | |
| 17 | g.41769422T>C | CA399504745 | JUP | c.464A>G (p.Asp155Gly) c.515A>G (p.Asp172Gly) | |
| 17 | g.41769422T>G | CA399504746 | JUP | c.464A>C (p.Asp155Ala) c.515A>C (p.Asp172Ala) | |
| 17 | g.41769423C>A | CA399504749 | JUP | c.463G>T (p.Asp155Tyr) c.514G>T (p.Asp172Tyr) | gnomAD v4 |
| 17 | g.41769423C= | CA2260176130 | JUP | c.463G= (p.Asp155=) c.514G= (p.Asp172=) | |
| 17 | g.41769423C>G | CA399504752 | JUP | c.463G>C (p.Asp155His) c.514G>C (p.Asp172His) | |
| 17 | g.41769423C>T | CA399504760 | JUP | c.463G>A (p.Asp155Asn) c.514G>A (p.Asp172Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769424C>A | CA399504763 | JUP | c.462G>T (p.Glu154Asp) c.513G>T (p.Glu171Asp) | gnomAD v4 |
| 17 | g.41769424C= | CA2260176131 | JUP | c.462G= (p.Glu154=) c.513G= (p.Glu171=) | |
| 17 | g.41769424C>G | CA399504764 | JUP | c.462G>C (p.Glu154Asp) c.513G>C (p.Glu171Asp) | dbSNP gnomAD v2 |
| 17 | g.41769424C>T | CA500207566 | JUP | c.462G>A (p.Glu154=) c.513G>A (p.Glu171=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769425T>A | CA399504767 | JUP | c.461A>T (p.Glu154Val) c.512A>T (p.Glu171Val) | |
| 17 | g.41769425T>C | CA399504770 | JUP | c.461A>G (p.Glu154Gly) c.512A>G (p.Glu171Gly) | |
| 17 | g.41769425T>G | CA399504772 | JUP | c.461A>C (p.Glu154Ala) c.512A>C (p.Glu171Ala) | |
| 17 | g.41769426C>A | CA399504777 | JUP | c.460G>T (p.Glu154Ter) c.511G>T (p.Glu171Ter) | |
| 17 | g.41769426C= | CA2260176132 | JUP | c.460G= (p.Glu154=) c.511G= (p.Glu171=) | |
| 17 | g.41769426C>G | CA399504775 | JUP | c.460G>C (p.Glu154Gln) c.511G>C (p.Glu171Gln) | gnomAD v4 |
| 17 | g.41769426C>T | CA8565490 | JUP | c.460G>A (p.Glu154Lys) c.511G>A (p.Glu171Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769427G>A | CA8565491 | JUP | c.459C>T (p.Asp153=) c.510C>T (p.Asp170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769427G>C | CA399504784 | JUP | c.459C>G (p.Asp153Glu) c.510C>G (p.Asp170Glu) | gnomAD v4 |
| 17 | g.41769427G= | CA2260176133 | JUP | c.459C= (p.Asp153=) c.510C= (p.Asp170=) | |
| 17 | g.41769427G>T | CA8565492 | JUP | c.459C>A (p.Asp153Glu) c.510C>A (p.Asp170Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769428T>A | CA399504788 | JUP | c.458A>T (p.Asp153Val) c.509A>T (p.Asp170Val) | |
| 17 | g.41769428T>C | CA399504790 | JUP | c.458A>G (p.Asp153Gly) c.509A>G (p.Asp170Gly) | |
| 17 | g.41769428T>G | CA399504793 | JUP | c.458A>C (p.Asp153Ala) c.509A>C (p.Asp170Ala) | |
| 17 | g.41769429C>A | CA399504798 | JUP | c.457G>T (p.Asp153Tyr) c.508G>T (p.Asp170Tyr) | gnomAD v4 |
| 17 | g.41769429C= | CA2260176134 | JUP | c.457G= (p.Asp153=) c.508G= (p.Asp170=) | |
| 17 | g.41769429C>G | CA399504800 | JUP | c.457G>C (p.Asp153His) c.508G>C (p.Asp170His) | dbSNP |
| 17 | g.41769429C>T | CA8565493 | JUP | c.457G>A (p.Asp153Asn) c.508G>A (p.Asp170Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769430G>A | CA8565495 | JUP | c.456C>T (p.Asn152=) c.507C>T (p.Asn169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769430G>C | CA8565494 | JUP | c.456C>G (p.Asn152Lys) c.507C>G (p.Asn169Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769430G= | CA2260176135 | JUP | c.456C= (p.Asn152=) c.507C= (p.Asn169=) | |
| 17 | g.41769430G>T | CA399504805 | JUP | c.456C>A (p.Asn152Lys) c.507C>A (p.Asn169Lys) | |
| 17 | g.41769431T>A | CA399504810 | JUP | c.455A>T (p.Asn152Ile) c.506A>T (p.Asn169Ile) | |
| 17 | g.41769431T>C | CA399504811 | JUP | c.455A>G (p.Asn152Ser) c.506A>G (p.Asn169Ser) | ClinVar dbSNP |
| 17 | g.41769431T>G | CA399504808 | JUP | c.455A>C (p.Asn152Thr) c.506A>C (p.Asn169Thr) | gnomAD v4 |
| 17 | g.41769431T= | CA2260176136 | JUP | c.455A= (p.Asn152=) c.506A= (p.Asn169=) | |
| 17 | g.41769432T>A | CA399504819 | JUP | c.454A>T (p.Asn152Tyr) c.505A>T (p.Asn169Tyr) | |
| 17 | g.41769432T>C | CA399504813 | JUP | c.454A>G (p.Asn152Asp) c.505A>G (p.Asn169Asp) | |
| 17 | g.41769432T>G | CA399504817 | JUP | c.454A>C (p.Asn152His) c.505A>C (p.Asn169His) | |
| 17 | g.41769433G>A | CA500207575 | JUP | c.453C>T (p.Leu151=) c.504C>T (p.Leu168=) | dbSNP gnomAD v2 |
| 17 | g.41769433G>C | CA290700800 | JUP | c.453C>G (p.Leu151=) c.504C>G (p.Leu168=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41769433G= | CA2260176137 | JUP | c.453C= (p.Leu151=) c.504C= (p.Leu168=) | |
| 17 | g.41769433G>T | CA500207576 | JUP | c.453C>A (p.Leu151=) c.504C>A (p.Leu168=) | gnomAD v4 |
| 17 | g.41769434A>C | CA399504821 | JUP | c.452T>G (p.Leu151Arg) c.503T>G (p.Leu168Arg) | |
| 17 | g.41769434A>G | CA399504823 | JUP | c.452T>C (p.Leu151Pro) c.503T>C (p.Leu168Pro) | |
| 17 | g.41769434A>T | CA399504826 | JUP | c.452T>A (p.Leu151His) c.503T>A (p.Leu168His) | |
| 17 | g.41769435G>A | CA399504828 | JUP | c.451C>T (p.Leu151Phe) c.502C>T (p.Leu168Phe) | |
| 17 | g.41769435G>C | CA399504831 | JUP | c.451C>G (p.Leu151Val) c.502C>G (p.Leu168Val) | |
| 17 | g.41769435G>T | CA399504834 | JUP | c.451C>A (p.Leu151Ile) c.502C>A (p.Leu168Ile) | |
| 17 | g.41769435_41769436delinsTG | CA2573153776 | JUP | c.450_451delinsCA (p.Leu151Ile) c.501_502delinsCA (p.Leu168Ile) | ClinVar dbSNP |
| 17 | g.41769436C>A | CA500207580 | JUP | c.450G>T (p.Leu150=) c.501G>T (p.Leu167=) | gnomAD v4 |
| 17 | g.41769436C= | CA2260176138 | JUP | c.450G= (p.Leu150=) c.501G= (p.Leu167=) | |
| 17 | g.41769436C>G | CA500207581 | JUP | c.450G>C (p.Leu150=) c.501G>C (p.Leu167=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769436C>T | CA500207582 | JUP | c.450G>A (p.Leu150=) c.501G>A (p.Leu167=) | |
| 17 | g.41769437A>C | CA399504837 | JUP | c.449T>G (p.Leu150Arg) c.500T>G (p.Leu167Arg) | |
| 17 | g.41769437A>G | CA399504840 | JUP | c.449T>C (p.Leu150Pro) c.500T>C (p.Leu167Pro) | |
| 17 | g.41769437A>T | CA399504842 | JUP | c.449T>A (p.Leu150Gln) c.500T>A (p.Leu167Gln) | |
| 17 | g.41769438G>A | CA500207583 | JUP | c.448C>T (p.Leu150=) c.499C>T (p.Leu167=) | |
| 17 | g.41769438G>C | CA399504843 | JUP | c.448C>G (p.Leu150Val) c.499C>G (p.Leu167Val) | |
| 17 | g.41769438G>T | CA399504844 | JUP | c.448C>A (p.Leu150Met) c.499C>A (p.Leu167Met) | |
| 17 | g.41769439T>A | CA399504848 | JUP | c.447A>T (p.Lys149Asn) c.498A>T (p.Lys166Asn) | |
| 17 | g.41769439T>C | CA290700810 | JUP | c.447A>G (p.Lys149=) c.498A>G (p.Lys166=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769439T>G | CA399504847 | JUP | c.447A>C (p.Lys149Asn) c.498A>C (p.Lys166Asn) | |
| 17 | g.41769439T= | CA2260176139 | JUP | c.447A= (p.Lys149=) c.498A= (p.Lys166=) | |
| 17 | g.41769440T>A | CA399504853 | JUP | c.446A>T (p.Lys149Ile) c.497A>T (p.Lys166Ile) | |
| 17 | g.41769440T>C | CA399504856 | JUP | c.446A>G (p.Lys149Arg) c.497A>G (p.Lys166Arg) | |
| 17 | g.41769440T>G | CA399504858 | JUP | c.446A>C (p.Lys149Thr) c.497A>C (p.Lys166Thr) | |
| 17 | g.41769441T>A | CA399504861 | JUP | c.445A>T (p.Lys149Ter) c.496A>T (p.Lys166Ter) | |
| 17 | g.41769441T>C | CA399504862 | JUP | c.445A>G (p.Lys149Glu) c.496A>G (p.Lys166Glu) | |
| 17 | g.41769441T>G | CA399504867 | JUP | c.445A>C (p.Lys149Gln) c.496A>C (p.Lys166Gln) | |
| 17 | g.41769442G>A | CA500207587 | JUP | c.444C>T (p.Thr148=) c.495C>T (p.Thr165=) | |
| 17 | g.41769442G>C | CA500207585 | JUP | c.444C>G (p.Thr148=) c.495C>G (p.Thr165=) | gnomAD v4 |
| 17 | g.41769442G>T | CA500207586 | JUP | c.444C>A (p.Thr148=) c.495C>A (p.Thr165=) | gnomAD v4 |
| 17 | g.41769443G>A | CA399504868 | JUP | c.443C>T (p.Thr148Ile) c.494C>T (p.Thr165Ile) | |
| 17 | g.41769443G>C | CA399504869 | JUP | c.443C>G (p.Thr148Ser) c.494C>G (p.Thr165Ser) | |
| 17 | g.41769443G= | CA2260176140 | JUP | c.443C= (p.Thr148=) c.494C= (p.Thr165=) | |
| 17 | g.41769443G>T | CA399504872 | JUP | c.443C>A (p.Thr148Asn) c.494C>A (p.Thr165Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769444T>A | CA399504874 | JUP | c.442A>T (p.Thr148Ser) c.493A>T (p.Thr165Ser) | |
| 17 | g.41769444T>C | CA399504875 | JUP | c.442A>G (p.Thr148Ala) c.493A>G (p.Thr165Ala) | |
| 17 | g.41769444T>G | CA399504877 | JUP | c.442A>C (p.Thr148Pro) c.493A>C (p.Thr165Pro) | |
| 17 | g.41769445G>A | CA500207590 | JUP | c.441C>T (p.Leu147=) c.492C>T (p.Leu164=) | |
| 17 | g.41769445G>C | CA500207591 | JUP | c.441C>G (p.Leu147=) c.492C>G (p.Leu164=) | |
| 17 | g.41769445G>T | CA500207593 | JUP | c.441C>A (p.Leu147=) c.492C>A (p.Leu164=) | gnomAD v4 |
| 17 | g.41769446A>C | CA399504885 | JUP | c.440T>G (p.Leu147Arg) c.491T>G (p.Leu164Arg) | |
| 17 | g.41769446A>G | CA399504883 | JUP | c.440T>C (p.Leu147Pro) c.491T>C (p.Leu164Pro) | |
| 17 | g.41769446A>T | CA399504881 | JUP | c.440T>A (p.Leu147His) c.491T>A (p.Leu164His) | |
| 17 | g.41769447G>A | CA399504890 | JUP | c.439C>T (p.Leu147Phe) c.490C>T (p.Leu164Phe) | gnomAD v4 |
| 17 | g.41769447G>C | CA399504889 | JUP | c.439C>G (p.Leu147Val) c.490C>G (p.Leu164Val) | |
| 17 | g.41769447G>T | CA399504891 | JUP | c.439C>A (p.Leu147Ile) c.490C>A (p.Leu164Ile) | |
| 17 | g.41769448C>A | CA399504892 | JUP | c.438G>T (p.Glu146Asp) c.489G>T (p.Glu163Asp) | |
| 17 | g.41769448C= | CA2260176141 | JUP | c.438G= (p.Glu146=) c.489G= (p.Glu163=) | |
| 17 | g.41769448C>G | CA399504893 | JUP | c.438G>C (p.Glu146Asp) c.489G>C (p.Glu163Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769448C>T | CA500207595 | JUP | c.438G>A (p.Glu146=) c.489G>A (p.Glu163=) | |
| 17 | g.41769449T>A | CA399504894 | JUP | c.437A>T (p.Glu146Val) c.488A>T (p.Glu163Val) | |
| 17 | g.41769449T>C | CA399504896 | JUP | c.437A>G (p.Glu146Gly) c.488A>G (p.Glu163Gly) | |
| 17 | g.41769449T>G | CA399504898 | JUP | c.437A>C (p.Glu146Ala) c.488A>C (p.Glu163Ala) | gnomAD v4 |
| 17 | g.41769450C>A | CA399504899 | JUP | c.436G>T (p.Glu146Ter) c.487G>T (p.Glu163Ter) | ClinVar dbSNP |
| 17 | g.41769450C= | CA2260176142 | JUP | c.436G= (p.Glu146=) c.487G= (p.Glu163=) | |
| 17 | g.41769450C>G | CA399504901 | JUP | c.436G>C (p.Glu146Gln) c.487G>C (p.Glu163Gln) | |
| 17 | g.41769450C>T | CA8565496 | JUP | c.436G>A (p.Glu146Lys) c.487G>A (p.Glu163Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41769451G>A | CA8565497 | JUP | c.435C>T (p.Pro145=) c.486C>T (p.Pro162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769451G>C | CA500207597 | JUP | c.435C>G (p.Pro145=) c.486C>G (p.Pro162=) | dbSNP gnomAD v4 |
| 17 | g.41769451G= | CA2260176143 | JUP | c.435C= (p.Pro145=) c.486C= (p.Pro162=) | |
| 17 | g.41769451G>T | CA500207598 | JUP | c.435C>A (p.Pro145=) c.486C>A (p.Pro162=) | |
| 17 | g.41769452G>A | CA399504903 | JUP | c.434C>T (p.Pro145Leu) c.485C>T (p.Pro162Leu) | |
| 17 | g.41769452G>C | CA399504904 | JUP | c.434C>G (p.Pro145Arg) c.485C>G (p.Pro162Arg) | gnomAD v4 |
| 17 | g.41769452G>T | CA399504906 | JUP | c.434C>A (p.Pro145His) c.485C>A (p.Pro162His) | gnomAD v4 |
| 17 | g.41769453G>A | CA8565498 | JUP | c.433C>T (p.Pro145Ser) c.484C>T (p.Pro162Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769453G>C | CA399504912 | JUP | c.433C>G (p.Pro145Ala) c.484C>G (p.Pro162Ala) | |
| 17 | g.41769453G= | CA2260176144 | JUP | c.433C= (p.Pro145=) c.484C= (p.Pro162=) | |
| 17 | g.41769453G>T | CA399504909 | JUP | c.433C>A (p.Pro145Thr) c.484C>A (p.Pro162Thr) | |
| 17 | g.41769454C>A | CA500207603 | JUP | c.432G>T (p.Leu144=) c.483G>T (p.Leu161=) | |
| 17 | g.41769454C= | CA2260176145 | JUP | c.432G= (p.Leu144=) c.483G= (p.Leu161=) | |
| 17 | g.41769454C>G | CA500207601 | JUP | c.432G>C (p.Leu144=) c.483G>C (p.Leu161=) | |
| 17 | g.41769454C>T | CA500207602 | JUP | c.432G>A (p.Leu144=) c.483G>A (p.Leu161=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769455A>C | CA399504914 | JUP | c.431T>G (p.Leu144Arg) c.482T>G (p.Leu161Arg) | |
| 17 | g.41769455A>G | CA399504915 | JUP | c.431T>C (p.Leu144Pro) c.482T>C (p.Leu161Pro) | |
| 17 | g.41769455A>T | CA399504917 | JUP | c.431T>A (p.Leu144Gln) c.482T>A (p.Leu161Gln) | |
| 17 | g.41769456G>A | CA500207607 | JUP | c.430C>T (p.Leu144=) c.481C>T (p.Leu161=) | |
| 17 | g.41769456G>C | CA399504919 | JUP | c.430C>G (p.Leu144Val) c.481C>G (p.Leu161Val) | |
| 17 | g.41769456G>T | CA399504921 | JUP | c.430C>A (p.Leu144Met) c.481C>A (p.Leu161Met) | |
| 17 | g.41769457G>A | CA8565499 | JUP | c.429C>T (p.Ala143=) c.480C>T (p.Ala160=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769457G>C | CA500207608 | JUP | c.429C>G (p.Ala143=) c.480C>G (p.Ala160=) | |
| 17 | g.41769457G= | CA2260176146 | JUP | c.429C= (p.Ala143=) c.480C= (p.Ala160=) | |
| 17 | g.41769457G>T | CA500207609 | JUP | c.429C>A (p.Ala143=) c.480C>A (p.Ala160=) | gnomAD v4 |
| 17 | g.41769458G>A | CA399504922 | JUP | c.428C>T (p.Ala143Val) c.479C>T (p.Ala160Val) | COSMIC |
| 17 | g.41769458G>C | CA399504924 | JUP | c.428C>G (p.Ala143Gly) c.479C>G (p.Ala160Gly) | |
| 17 | g.41769458G>T | CA399504927 | JUP | c.428C>A (p.Ala143Asp) c.479C>A (p.Ala160Asp) | gnomAD v4 |
| 17 | g.41769459C>A | CA399504932 | JUP | c.427G>T (p.Ala143Ser) c.478G>T (p.Ala160Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769459C= | CA2260176147 | JUP | c.427G= (p.Ala143=) c.478G= (p.Ala160=) | |
| 17 | g.41769459C>G | CA399504934 | JUP | c.427G>C (p.Ala143Pro) c.478G>C (p.Ala160Pro) | |
| 17 | g.41769459C>T | CA308461 | JUP | c.427G>A (p.Ala143Thr) c.478G>A (p.Ala160Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769460G>A | CA8565500 | JUP | c.426C>T (p.Arg142=) c.477C>T (p.Arg159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769460G>C | CA500207610 | JUP | c.426C>G (p.Arg142=) c.477C>G (p.Arg159=) | gnomAD v4 |
| 17 | g.41769460G= | CA2260176148 | JUP | c.426C= (p.Arg142=) c.477C= (p.Arg159=) | |
| 17 | g.41769460G>T | CA500207611 | JUP | c.426C>A (p.Arg142=) c.477C>A (p.Arg159=) | |
| 17 | g.41769461C>A | CA399504941 | JUP | c.425G>T (p.Arg142Leu) c.476G>T (p.Arg159Leu) | gnomAD v4 |
| 17 | g.41769461C= | CA2260176149 | JUP | c.425G= (p.Arg142=) c.476G= (p.Arg159=) | |
| 17 | g.41769461C>G | CA399504944 | JUP | c.425G>C (p.Arg142Pro) c.476G>C (p.Arg159Pro) | |
| 17 | g.41769461C>T | CA137213 | JUP | c.425G>A (p.Arg142His) c.476G>A (p.Arg159His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769462G>A | CA290700837 | JUP | c.424C>T (p.Arg142Cys) c.475C>T (p.Arg159Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41769462G>C | CA399504946 | JUP | c.424C>G (p.Arg142Gly) c.475C>G (p.Arg159Gly) | |
| 17 | g.41769462G= | CA2260176150 | JUP | c.424C= (p.Arg142=) c.475C= (p.Arg159=) | |
| 17 | g.41769462G>T | CA399504947 | JUP | c.424C>A (p.Arg142Ser) c.475C>A (p.Arg159Ser) | gnomAD v4 |
| 17 | g.41769463A>C | CA500207612 | JUP | c.423T>G (p.Thr141=) c.474T>G (p.Thr158=) | |
| 17 | g.41769463A>G | CA500207614 | JUP | c.423T>C (p.Thr141=) c.474T>C (p.Thr158=) | |
| 17 | g.41769463A>T | CA500207613 | JUP | c.423T>A (p.Thr141=) c.474T>A (p.Thr158=) | |
| 17 | g.41769464G>A | CA399504949 | JUP | c.422C>T (p.Thr141Ile) c.473C>T (p.Thr158Ile) | |
| 17 | g.41769464G>C | CA399504951 | JUP | c.422C>G (p.Thr141Ser) c.473C>G (p.Thr158Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769464G>T | CA399504952 | JUP | c.422C>A (p.Thr141Asn) c.473C>A (p.Thr158Asn) | |
| 17 | g.41769465T>A | CA399504959 | JUP | c.421A>T (p.Thr141Ser) c.472A>T (p.Thr158Ser) | |
| 17 | g.41769465T>C | CA399504958 | JUP | c.421A>G (p.Thr141Ala) c.472A>G (p.Thr158Ala) | |
| 17 | g.41769465T>G | CA399504955 | JUP | c.421A>C (p.Thr141Pro) c.472A>C (p.Thr158Pro) | |
| 17 | g.41769466G>A | CA500207618 | JUP | c.420C>T (p.Ala140=) c.471C>T (p.Ala157=) | |
| 17 | g.41769466G>C | CA500207616 | JUP | c.420C>G (p.Ala140=) c.471C>G (p.Ala157=) | |
| 17 | g.41769466G>T | CA500207617 | JUP | c.420C>A (p.Ala140=) c.471C>A (p.Ala157=) | |
| 17 | g.41769467G>A | CA399504961 | JUP | c.419C>T (p.Ala140Val) c.470C>T (p.Ala157Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769467G>C | CA399504962 | JUP | c.419C>G (p.Ala140Gly) c.470C>G (p.Ala157Gly) | |
| 17 | g.41769467G= | CA2260176151 | JUP | c.419C= (p.Ala140=) c.470C= (p.Ala157=) | |
| 17 | g.41769467G>T | CA399504963 | JUP | c.419C>A (p.Ala140Asp) c.470C>A (p.Ala157Asp) | gnomAD v4 |
| 17 | g.41769468C>A | CA399504966 | JUP | c.418G>T (p.Ala140Ser) c.469G>T (p.Ala157Ser) | |
| 17 | g.41769468C= | CA2260176152 | JUP | c.418G= (p.Ala140=) c.469G= (p.Ala157=) | |
| 17 | g.41769468C>G | CA399504968 | JUP | c.418G>C (p.Ala140Pro) c.469G>C (p.Ala157Pro) | |
| 17 | g.41769468C>T | CA399504971 | JUP | c.418G>A (p.Ala140Thr) c.469G>A (p.Ala157Thr) | dbSNP gnomAD v4 |
| 17 | g.41769469C>A | CA500207619 | JUP | c.417G>T (p.Leu139=) c.468G>T (p.Leu156=) | |
| 17 | g.41769469C>G | CA500207620 | JUP | c.417G>C (p.Leu139=) c.468G>C (p.Leu156=) | |
| 17 | g.41769469C>T | CA500207621 | JUP | c.417G>A (p.Leu139=) c.468G>A (p.Leu156=) | |
| 17 | g.41769470A>C | CA399504976 | JUP | c.416T>G (p.Leu139Arg) c.467T>G (p.Leu156Arg) | |
| 17 | g.41769470A>G | CA399504979 | JUP | c.416T>C (p.Leu139Pro) c.467T>C (p.Leu156Pro) | |
| 17 | g.41769470A>T | CA399504978 | JUP | c.416T>A (p.Leu139Gln) c.467T>A (p.Leu156Gln) | |
| 17 | g.41769471G>A | CA500207625 | JUP | c.415C>T (p.Leu139=) c.466C>T (p.Leu156=) | dbSNP gnomAD v2 |
| 17 | g.41769471G>C | CA399504980 | JUP | c.415C>G (p.Leu139Val) c.466C>G (p.Leu156Val) | |
| 17 | g.41769471G= | CA2260176153 | JUP | c.415C= (p.Leu139=) c.466C= (p.Leu156=) | |
| 17 | g.41769471G>T | CA399504981 | JUP | c.415C>A (p.Leu139Met) c.466C>A (p.Leu156Met) | |
| 17 | g.41769472C>A | CA399504982 | JUP | c.414G>T (p.Glu138Asp) c.465G>T (p.Glu155Asp) | |
| 17 | g.41769472C= | CA2260176154 | JUP | c.414G= (p.Glu138=) c.465G= (p.Glu155=) | |
| 17 | g.41769472C>G | CA8565501 | JUP | c.414G>C (p.Glu138Asp) c.465G>C (p.Glu155Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769472C>T | CA8565502 | JUP | c.414G>A (p.Glu138=) c.465G>A (p.Glu155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769473T>A | CA399504985 | JUP | c.413A>T (p.Glu138Val) c.464A>T (p.Glu155Val) | |
| 17 | g.41769473T>C | CA399504988 | JUP | c.413A>G (p.Glu138Gly) c.464A>G (p.Glu155Gly) | |
| 17 | g.41769473T>G | CA399504990 | JUP | c.413A>C (p.Glu138Ala) c.464A>C (p.Glu155Ala) | |
| 17 | g.41769474C>A | CA399504992 | JUP | c.412G>T (p.Glu138Ter) c.463G>T (p.Glu155Ter) | gnomAD v4 |
| 17 | g.41769474C= | CA2260176155 | JUP | c.412G= (p.Glu138=) c.463G= (p.Glu155=) | |
| 17 | g.41769474C>G | CA399504993 | JUP | c.412G>C (p.Glu138Gln) c.463G>C (p.Glu155Gln) | |
| 17 | g.41769474C>T | CA8565503 | JUP | c.412G>A (p.Glu138Lys) c.463G>A (p.Glu155Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41769475G>A | CA8565504 | JUP | c.411C>T (p.Ala137=) c.462C>T (p.Ala154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769475G>C | CA500207628 | JUP | c.411C>G (p.Ala137=) c.462C>G (p.Ala154=) | gnomAD v4 |
| 17 | g.41769475G= | CA2260176156 | JUP | c.411C= (p.Ala137=) c.462C= (p.Ala154=) | |
| 17 | g.41769475G>T | CA500207627 | JUP | c.411C>A (p.Ala137=) c.462C>A (p.Ala154=) | |
| 17 | g.41769476G>A | CA399504997 | JUP | c.410C>T (p.Ala137Val) c.461C>T (p.Ala154Val) | dbSNP gnomAD v4 |
| 17 | g.41769476G>C | CA399505003 | JUP | c.410C>G (p.Ala137Gly) c.461C>G (p.Ala154Gly) | |
| 17 | g.41769476G= | CA2260176157 | JUP | c.410C= (p.Ala137=) c.461C= (p.Ala154=) | |
| 17 | g.41769476G>T | CA399505002 | JUP | c.410C>A (p.Ala137Asp) c.461C>A (p.Ala154Asp) | |
| 17 | g.41769477C>A | CA399505005 | JUP | c.409G>T (p.Ala137Ser) c.460G>T (p.Ala154Ser) | |
| 17 | g.41769477C= | CA2260176158 | JUP | c.409G= (p.Ala137=) c.460G= (p.Ala154=) | |
| 17 | g.41769477C>G | CA399505006 | JUP | c.409G>C (p.Ala137Pro) c.460G>C (p.Ala154Pro) | |
| 17 | g.41769477C>T | CA399505008 | JUP | c.409G>A (p.Ala137Thr) c.460G>A (p.Ala154Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769478A= | CA2260176159 | JUP | c.408T= (p.Asp136=) c.459T= (p.Asp153=) | |
| 17 | g.41769478A>C | CA399505010 | JUP | c.408T>G (p.Asp136Glu) c.459T>G (p.Asp153Glu) | |
| 17 | g.41769478A>G | CA500207629 | JUP | c.408T>C (p.Asp136=) c.459T>C (p.Asp153=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769478A>T | CA399505012 | JUP | c.408T>A (p.Asp136Glu) c.459T>A (p.Asp153Glu) | |
| 17 | g.41769479T>A | CA399505017 | JUP | c.407A>T (p.Asp136Val) c.458A>T (p.Asp153Val) | |
| 17 | g.41769479T>C | CA399505016 | JUP | c.407A>G (p.Asp136Gly) c.458A>G (p.Asp153Gly) | |
| 17 | g.41769479T>G | CA399505014 | JUP | c.407A>C (p.Asp136Ala) c.458A>C (p.Asp153Ala) | |
| 17 | g.41769480C>A | CA399505019 | JUP | c.406G>T (p.Asp136Tyr) c.457G>T (p.Asp153Tyr) | ClinVar dbSNP |
| 17 | g.41769480C= | CA2260176160 | JUP | c.406G= (p.Asp136=) c.457G= (p.Asp153=) | |
| 17 | g.41769480C>G | CA308456 | JUP | c.406G>C (p.Asp136His) c.457G>C (p.Asp153His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769480C>T | CA8565505 | JUP | c.406G>A (p.Asp136Asn) c.457G>A (p.Asp153Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769481G>A | CA137208 | JUP | c.405C>T (p.Asp135=) c.456C>T (p.Asp152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769481G>C | CA399505023 | JUP | c.405C>G (p.Asp135Glu) c.456C>G (p.Asp152Glu) | |
| 17 | g.41769481G= | CA2260176161 | JUP | c.405C= (p.Asp135=) c.456C= (p.Asp152=) | |
| 17 | g.41769481G>T | CA399505025 | JUP | c.405C>A (p.Asp135Glu) c.456C>A (p.Asp152Glu) | gnomAD v4 |
| 17 | g.41769482T>A | CA399505027 | JUP | c.404A>T (p.Asp135Val) c.455A>T (p.Asp152Val) | |
| 17 | g.41769482T>C | CA399505030 | JUP | c.404A>G (p.Asp135Gly) c.455A>G (p.Asp152Gly) | |
| 17 | g.41769482T>G | CA399505029 | JUP | c.404A>C (p.Asp135Ala) c.455A>C (p.Asp152Ala) | |
| 17 | g.41769483C>A | CA399505031 | JUP | c.403G>T (p.Asp135Tyr) c.454G>T (p.Asp152Tyr) | |
| 17 | g.41769483C= | CA2260176162 | JUP | c.403G= (p.Asp135=) c.454G= (p.Asp152=) | |
| 17 | g.41769483C>G | CA399505033 | JUP | c.403G>C (p.Asp135His) c.454G>C (p.Asp152His) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769483C>T | CA399505042 | JUP | c.403G>A (p.Asp135Asn) c.454G>A (p.Asp152Asn) | dbSNP gnomAD v2 |
| 17 | g.41769484C>A | CA399505044 | JUP | c.402G>T (p.Gln134His) c.453G>T (p.Gln151His) | |
| 17 | g.41769484C>G | CA399505046 | JUP | c.402G>C (p.Gln134His) c.453G>C (p.Gln151His) | |
| 17 | g.41769484C>T | CA500207630 | JUP | c.402G>A (p.Gln134=) c.453G>A (p.Gln151=) | |
| 17 | g.41769485T>A | CA399505047 | JUP | c.401A>T (p.Gln134Leu) c.452A>T (p.Gln151Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769485T>C | CA16043116 | JUP | c.401A>G (p.Gln134Arg) c.452A>G (p.Gln151Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769485T>G | CA399505049 | JUP | c.401A>C (p.Gln134Pro) c.452A>C (p.Gln151Pro) | |
| 17 | g.41769485T= | CA2260176163 | JUP | c.401A= (p.Gln134=) c.452A= (p.Gln151=) | |
| 17 | g.41769486G>A | CA399505054 | JUP | c.400C>T (p.Gln134Ter) c.451C>T (p.Gln151Ter) | gnomAD v4 |
| 17 | g.41769486G>C | CA399505056 | JUP | c.400C>G (p.Gln134Glu) c.451C>G (p.Gln151Glu) | |
| 17 | g.41769486G>T | CA399505057 | JUP | c.400C>A (p.Gln134Lys) c.451C>A (p.Gln151Lys) | |
| 17 | g.41769487G>A | CA500207631 | JUP | c.399C>T (p.Tyr133=) c.450C>T (p.Tyr150=) | |
| 17 | g.41769487G>C | CA399505060 | JUP | c.399C>G (p.Tyr133Ter) c.450C>G (p.Tyr150Ter) | |
| 17 | g.41769487G>T | CA399505058 | JUP | c.399C>A (p.Tyr133Ter) c.450C>A (p.Tyr150Ter) | |
| 17 | g.41769488T>A | CA399505062 | JUP | c.398A>T (p.Tyr133Phe) c.449A>T (p.Tyr150Phe) | |
| 17 | g.41769488T>C | CA399505071 | JUP | c.398A>G (p.Tyr133Cys) c.449A>G (p.Tyr150Cys) | |
| 17 | g.41769488T>G | CA399505063 | JUP | c.398A>C (p.Tyr133Ser) c.449A>C (p.Tyr150Ser) | dbSNP |
| 17 | g.41769488T= | CA2260176164 | JUP | c.398A= (p.Tyr133=) c.449A= (p.Tyr150=) | |
| 17 | g.41769489A>C | CA399505073 | JUP | c.397T>G (p.Tyr133Asp) c.448T>G (p.Tyr150Asp) | |
| 17 | g.41769489A>G | CA399505077 | JUP | c.397T>C (p.Tyr133His) c.448T>C (p.Tyr150His) | |
| 17 | g.41769489A>T | CA399505075 | JUP | c.397T>A (p.Tyr133Asn) c.448T>A (p.Tyr150Asn) | |
| 17 | g.41769490G>A | CA8565506 | JUP | c.396C>T (p.Asn132=) c.447C>T (p.Asn149=) | ClinVar dbSNP ExAC |
| 17 | g.41769490G>C | CA399505080 | JUP | c.396C>G (p.Asn132Lys) c.447C>G (p.Asn149Lys) | |
| 17 | g.41769490G= | CA2260176165 | JUP | c.396C= (p.Asn132=) c.447C= (p.Asn149=) | |
| 17 | g.41769490G>T | CA399505079 | JUP | c.396C>A (p.Asn132Lys) c.447C>A (p.Asn149Lys) | COSMIC |
| 17 | g.41769491T>A | CA399505082 | JUP | c.395A>T (p.Asn132Ile) c.446A>T (p.Asn149Ile) | |
| 17 | g.41769491T>C | CA399505086 | JUP | c.395A>G (p.Asn132Ser) c.446A>G (p.Asn149Ser) | |
| 17 | g.41769491T>G | CA399505084 | JUP | c.395A>C (p.Asn132Thr) c.446A>C (p.Asn149Thr) | |
| 17 | g.41769492del | CA2809501745 | JUP | c.395del (p.Asn132ThrfsTer28) c.446del (p.Asn149ThrfsTer28) | |
| 17 | g.41769491_41769494delinsTTGA | CA2260176166 | JUP | c.392_395delinsTCAA (p.Ile131=) c.443_446delinsTCAA (p.Ile148=) | |
| 17 | g.41769492T>A | CA399505088 | JUP | c.394A>T (p.Asn132Tyr) c.445A>T (p.Asn149Tyr) | |
| 17 | g.41769492T>C | CA399505090 | JUP | c.394A>G (p.Asn132Asp) c.445A>G (p.Asn149Asp) | |
| 17 | g.41769492T>G | CA399505092 | JUP | c.394A>C (p.Asn132His) c.445A>C (p.Asn149His) | |
| 17 | g.41769495_41769497del | CA16609792 | JUP | c.392_394del (p.Ile131del) c.443_445del (p.Ile148del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769493G>A | CA500207632 | JUP | c.393C>T (p.Ile131=) c.444C>T (p.Ile148=) | |
| 17 | g.41769493G>C | CA399505093 | JUP | c.393C>G (p.Ile131Met) c.444C>G (p.Ile148Met) | COSMIC |
| 17 | g.41769493G>T | CA500207633 | JUP | c.393C>A (p.Ile131=) c.444C>A (p.Ile148=) | |
| 17 | g.41769494A= | CA2260176167 | JUP | c.392T= (p.Ile131=) c.443T= (p.Ile148=) | |
| 17 | g.41769494A>C | CA399505099 | JUP | c.392T>G (p.Ile131Ser) c.443T>G (p.Ile148Ser) | |
| 17 | g.41769494A>G | CA399505100 | JUP | c.392T>C (p.Ile131Thr) c.443T>C (p.Ile148Thr) | gnomAD v4 |
| 17 | g.41769494A>T | CA399505102 | JUP | c.392T>A (p.Ile131Asn) c.443T>A (p.Ile148Asn) | |
| 17 | g.41769495T>A | CA399505104 | JUP | c.391A>T (p.Ile131Phe) c.442A>T (p.Ile148Phe) | |
| 17 | g.41769495T>C | CA399505106 | JUP | c.391A>G (p.Ile131Val) c.442A>G (p.Ile148Val) | |
| 17 | g.41769495T>G | CA399505108 | JUP | c.391A>C (p.Ile131Leu) c.442A>C (p.Ile148Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769495T= | CA2260176168 | JUP | c.391A= (p.Ile131=) c.442A= (p.Ile148=) | |
| 17 | g.41769495_41769502dup | CA983789215 | JUP | c.384_391dup (p.Ile131SerfsTer32) c.435_442dup (p.Ile148SerfsTer32) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769496G>A | CA500207634 | JUP | c.390C>T (p.Leu130=) c.441C>T (p.Leu147=) | dbSNP gnomAD v2 |
| 17 | g.41769496G>C | CA500207636 | JUP | c.390C>G (p.Leu130=) c.441C>G (p.Leu147=) | ClinVar dbSNP |
| 17 | g.41769496G= | CA2260176169 | JUP | c.390C= (p.Leu130=) c.441C= (p.Leu147=) | |
| 17 | g.41769496G>T | CA500207635 | JUP | c.390C>A (p.Leu130=) c.441C>A (p.Leu147=) | |
| 17 | g.41769497A>C | CA399505111 | JUP | c.389T>G (p.Leu130Arg) c.440T>G (p.Leu147Arg) | |
| 17 | g.41769497A>G | CA399505120 | JUP | c.389T>C (p.Leu130Pro) c.440T>C (p.Leu147Pro) | |
| 17 | g.41769497A>T | CA399505121 | JUP | c.389T>A (p.Leu130His) c.440T>A (p.Leu147His) | |
| 17 | g.41769498G>A | CA399505126 | JUP | c.388C>T (p.Leu130Phe) c.439C>T (p.Leu147Phe) | gnomAD v4 |
| 17 | g.41769498G>C | CA399505124 | JUP | c.388C>G (p.Leu130Val) c.439C>G (p.Leu147Val) | |
| 17 | g.41769498G>T | CA399505125 | JUP | c.388C>A (p.Leu130Ile) c.439C>A (p.Leu147Ile) | |
| 17 | g.41769499A>C | CA399505127 | JUP | c.387T>G (p.His129Gln) c.438T>G (p.His146Gln) | |
| 17 | g.41769499A>G | CA500207637 | JUP | c.387T>C (p.His129=) c.438T>C (p.His146=) | |
| 17 | g.41769499A>T | CA399505128 | JUP | c.387T>A (p.His129Gln) c.438T>A (p.His146Gln) | |
| 17 | g.41769500T>A | CA399505130 | JUP | c.386A>T (p.His129Leu) c.437A>T (p.His146Leu) | |
| 17 | g.41769500T>C | CA399505133 | JUP | c.386A>G (p.His129Arg) c.437A>G (p.His146Arg) | gnomAD v4 |
| 17 | g.41769500T>G | CA399505135 | JUP | c.386A>C (p.His129Pro) c.437A>C (p.His146Pro) | |
| 17 | g.41769501G>A | CA399505138 | JUP | c.385C>T (p.His129Tyr) c.436C>T (p.His146Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769501G>C | CA399505139 | JUP | c.385C>G (p.His129Asp) c.436C>G (p.His146Asp) | |
| 17 | g.41769501G= | CA2260176170 | JUP | c.385C= (p.His129=) c.436C= (p.His146=) | |
| 17 | g.41769501G>T | CA399505142 | JUP | c.385C>A (p.His129Asn) c.436C>A (p.His146Asn) | |
| 17 | g.41769502C>A | CA8565507 | JUP | c.384G>T (p.Val128=) c.435G>T (p.Val145=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769502C= | CA2260176171 | JUP | c.384G= (p.Val128=) c.435G= (p.Val145=) | |
| 17 | g.41769502C>G | CA500207638 | JUP | c.384G>C (p.Val128=) c.435G>C (p.Val145=) | |
| 17 | g.41769502C>T | CA8565508 | JUP | c.384G>A (p.Val128=) c.435G>A (p.Val145=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769503A>C | CA399505161 | JUP | c.383T>G (p.Val128Gly) c.434T>G (p.Val145Gly) | |
| 17 | g.41769503A>G | CA399505157 | JUP | c.383T>C (p.Val128Ala) c.434T>C (p.Val145Ala) | |
| 17 | g.41769503A>T | CA399505155 | JUP | c.383T>A (p.Val128Glu) c.434T>A (p.Val145Glu) | |
| 17 | g.41769504C>A | CA399505165 | JUP | c.382G>T (p.Val128Leu) c.433G>T (p.Val145Leu) | |
| 17 | g.41769504C>G | CA399505166 | JUP | c.382G>C (p.Val128Leu) c.433G>C (p.Val145Leu) | |
| 17 | g.41769504C>T | CA399505169 | JUP | c.382G>A (p.Val128Met) c.433G>A (p.Val145Met) | ClinVar gnomAD v4 |
| 17 | g.41769505A= | CA2260176172 | JUP | c.381T= (p.Ile127=) c.432T= (p.Ile144=) | |
| 17 | g.41769505A>C | CA399505173 | JUP | c.381T>G (p.Ile127Met) c.432T>G (p.Ile144Met) | |
| 17 | g.41769505A>G | CA500207639 | JUP | c.381T>C (p.Ile127=) c.432T>C (p.Ile144=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769505A>T | CA500207640 | JUP | c.381T>A (p.Ile127=) c.432T>A (p.Ile144=) | |
| 17 | g.41769506A>C | CA399505175 | JUP | c.380T>G (p.Ile127Ser) c.431T>G (p.Ile144Ser) | |
| 17 | g.41769506A>G | CA399505177 | JUP | c.380T>C (p.Ile127Thr) c.431T>C (p.Ile144Thr) | |
| 17 | g.41769506A>T | CA399505180 | JUP | c.380T>A (p.Ile127Asn) c.431T>A (p.Ile144Asn) | |
| 17 | g.41769506_41769507insCTCATCAAGTTGA | CA2260176173 | JUP | c.380_381insCAACTTGATGAGT (p.Val128AsnfsTer?) c.431_432insCAACTTGATGAGT (p.Val145AsnfsTer?) | dbSNP |
| 17 | g.41769507T>A | CA399505183 | JUP | c.379A>T (p.Ile127Phe) c.430A>T (p.Ile144Phe) | |
| 17 | g.41769507T>C | CA399505186 | JUP | c.379A>G (p.Ile127Val) c.430A>G (p.Ile144Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769507T>G | CA399505189 | JUP | c.379A>C (p.Ile127Leu) c.430A>C (p.Ile144Leu) | |
| 17 | g.41769507T= | CA2260176174 | JUP | c.379A= (p.Ile127=) c.430A= (p.Ile144=) | |
| 17 | g.41769508G>A | CA500207641 | JUP | c.378C>T (p.Ala126=) c.429C>T (p.Ala143=) | |
| 17 | g.41769508G>C | CA500207643 | JUP | c.378C>G (p.Ala126=) c.429C>G (p.Ala143=) | |
| 17 | g.41769508G= | CA2260176175 | JUP | c.378C= (p.Ala126=) c.429C= (p.Ala143=) | |
| 17 | g.41769508G>T | CA500207642 | JUP | c.378C>A (p.Ala126=) c.429C>A (p.Ala143=) | |
| 17 | g.41769508_41769509insA | CA2260176176 | JUP | c.377_378insT (p.Ile127HisfsTer?) c.428_429insT (p.Ile144HisfsTer?) | dbSNP |
| 17 | g.41769509G>A | CA399505192 | JUP | c.377C>T (p.Ala126Val) c.428C>T (p.Ala143Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769509G>C | CA399505196 | JUP | c.377C>G (p.Ala126Gly) c.428C>G (p.Ala143Gly) | |
| 17 | g.41769509G= | CA2260176177 | JUP | c.377C= (p.Ala126=) c.428C= (p.Ala143=) | |
| 17 | g.41769509G>T | CA399505198 | JUP | c.377C>A (p.Ala126Asp) c.428C>A (p.Ala143Asp) | |
| 17 | g.41769510C>A | CA399505201 | JUP | c.376G>T (p.Ala126Ser) c.427G>T (p.Ala143Ser) | |
| 17 | g.41769510C= | CA2260176178 | JUP | c.376G= (p.Ala126=) c.427G= (p.Ala143=) | |
| 17 | g.41769510C>G | CA399505206 | JUP | c.376G>C (p.Ala126Pro) c.427G>C (p.Ala143Pro) | |
| 17 | g.41769510C>T | CA399505203 | JUP | c.376G>A (p.Ala126Thr) c.427G>A (p.Ala143Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769511C>A | CA500207644 | JUP | c.375G>T (p.Ser125=) c.426G>T (p.Ser142=) | |
| 17 | g.41769511C= | CA2260176179 | JUP | c.375G= (p.Ser125=) c.426G= (p.Ser142=) | |
| 17 | g.41769511C>G | CA8565510 | JUP | c.375G>C (p.Ser125=) c.426G>C (p.Ser142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769511C>T | CA8565509 | JUP | c.375G>A (p.Ser125=) c.426G>A (p.Ser142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769512G>A | CA8565511 | JUP | c.374C>T (p.Ser125Leu) c.425C>T (p.Ser142Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41769512G>C | CA399505207 | JUP | c.374C>G (p.Ser125Trp) c.425C>G (p.Ser142Trp) | |
| 17 | g.41769512G= | CA2260176180 | JUP | c.374C= (p.Ser125=) c.425C= (p.Ser142=) | |
| 17 | g.41769512G>T | CA399505208 | JUP | c.374C>A (p.Ser125Ter) c.425C>A (p.Ser142Ter) | gnomAD v4 |
| 17 | g.41769513A= | CA2260176181 | JUP | c.373T= (p.Ser125=) c.424T= (p.Ser142=) | |
| 17 | g.41769513A>C | CA399505209 | JUP | c.373T>G (p.Ser125Ala) c.424T>G (p.Ser142Ala) | |
| 17 | g.41769513A>G | CA8565512 | JUP | c.373T>C (p.Ser125Pro) c.424T>C (p.Ser142Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769513A>T | CA399505211 | JUP | c.373T>A (p.Ser125Thr) c.424T>A (p.Ser142Thr) | |
| 17 | g.41769514C>A | CA399505213 | JUP | c.372G>T (p.Lys124Asn) c.423G>T (p.Lys141Asn) | |
| 17 | g.41769514C= | CA2260176182 | JUP | c.372G= (p.Lys124=) c.423G= (p.Lys141=) | |
| 17 | g.41769514C>G | CA399505215 | JUP | c.372G>C (p.Lys124Asn) c.423G>C (p.Lys141Asn) | gnomAD v4 |
| 17 | g.41769514C>T | CA290700859 | JUP | c.372G>A (p.Lys124=) c.423G>A (p.Lys141=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769515T>A | CA399505221 | JUP | c.371A>T (p.Lys124Met) c.422A>T (p.Lys141Met) | |
| 17 | g.41769515T>C | CA399505220 | JUP | c.371A>G (p.Lys124Arg) c.422A>G (p.Lys141Arg) | gnomAD v4 |
| 17 | g.41769515T>G | CA399505217 | JUP | c.371A>C (p.Lys124Thr) c.422A>C (p.Lys141Thr) | |
| 17 | g.41769516T>A | CA399505224 | JUP | c.370A>T (p.Lys124Ter) c.421A>T (p.Lys141Ter) | ClinVar dbSNP |
| 17 | g.41769516T>C | CA399505228 | JUP | c.370A>G (p.Lys124Glu) c.421A>G (p.Lys141Glu) | |
| 17 | g.41769516T>G | CA399505226 | JUP | c.370A>C (p.Lys124Gln) c.421A>C (p.Lys141Gln) | |
| 17 | g.41769516T= | CA2260176183 | JUP | c.370A= (p.Lys124=) c.421A= (p.Lys141=) | |
| 17 | g.41769517G>A | CA8565513 | JUP | c.369C>T (p.Leu123=) c.420C>T (p.Leu140=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769517G>C | CA500207645 | JUP | c.369C>G (p.Leu123=) c.420C>G (p.Leu140=) | dbSNP |
| 17 | g.41769517G= | CA2260176184 | JUP | c.369C= (p.Leu123=) c.420C= (p.Leu140=) | |
| 17 | g.41769517G>T | CA500207646 | JUP | c.369C>A (p.Leu123=) c.420C>A (p.Leu140=) | |
| 17 | g.41769518A>C | CA399505234 | JUP | c.368T>G (p.Leu123Arg) c.419T>G (p.Leu140Arg) | |
| 17 | g.41769518A>G | CA399505235 | JUP | c.368T>C (p.Leu123Pro) c.419T>C (p.Leu140Pro) | |
| 17 | g.41769518A>T | CA399505236 | JUP | c.368T>A (p.Leu123His) c.419T>A (p.Leu140His) | |
| 17 | g.41769519G>A | CA399505238 | JUP | c.367C>T (p.Leu123Phe) c.418C>T (p.Leu140Phe) | |
| 17 | g.41769519G>C | CA399505241 | JUP | c.367C>G (p.Leu123Val) c.418C>G (p.Leu140Val) | |
| 17 | g.41769519G>T | CA399505242 | JUP | c.367C>A (p.Leu123Ile) c.418C>A (p.Leu140Ile) |