| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41769397del | CA2637860088 | JUP | c.468+23del (n.468+23del) c.519+23del (n.519+23del) | gnomAD v4 |
| 17 | g.41769396C>A | CA2576269018 | JUP | c.468+22G>T (n.468+22G>T) c.519+22G>T (n.519+22G>T) | gnomAD v4 |
| 17 | g.41769397C>T | CA2637860089 | JUP | c.468+21G>A (n.468+21G>A) c.519+21G>A (n.519+21G>A) | gnomAD v4 |
| 17 | g.41769398T>C | CA2637860091 | JUP | c.468+20A>G (n.468+20A>G) c.519+20A>G (n.519+20A>G) | gnomAD v4 |
| 17 | g.41769399A>C | CA2573153775 | JUP | c.468+19T>G (n.468+19T>G) c.519+19T>G (n.519+19T>G) | ClinVar dbSNP |
| 17 | g.41769399A>G | CA2637860094 | JUP | c.468+19T>C (n.468+19T>C) c.519+19T>C (n.519+19T>C) | gnomAD v4 |
| 17 | g.41769400G>A | CA626215887 | JUP | c.468+18C>T (n.468+18C>T) c.519+18C>T (n.519+18C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769400G>C | CA983789105 | JUP | c.468+18C>G (n.468+18C>G) c.519+18C>G (n.519+18C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769400G= | CA2260176112 | JUP | c.468+18C= (n.468+18C=) c.519+18C= (n.519+18C=) | |
| 17 | g.41769400G>T | CA2637860099 | JUP | c.468+18C>A (n.468+18C>A) c.519+18C>A (n.519+18C>A) | gnomAD v4 |
| 17 | g.41769401C>A | CA626215888 | JUP | c.468+17G>T (n.468+17G>T) c.519+17G>T (n.519+17G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769401C= | CA2260176113 | JUP | c.468+17G= (n.468+17G=) c.519+17G= (n.519+17G=) | |
| 17 | g.41769402A= | CA2260176115 | JUP | c.468+16T= (n.468+16T=) c.519+16T= (n.519+16T=) | |
| 17 | g.41769402A>T | CA626215889 | JUP | c.468+16T>A (n.468+16T>A) c.519+16T>A (n.519+16T>A) | dbSNP gnomAD v2 |
| 17 | g.41769402_41769404delinsAGG | CA2260176114 | JUP | c.468+14_468+16delinsCCT (n.468+14_468+16delinsCCT) c.519+14_519+16delinsCCT (n.519+14_519+16delinsCCT) | |
| 17 | g.41769404_41769405del | CA772070097 | JUP | c.468+14_468+15del (n.468+14_468+15del) c.519+14_519+15del (n.519+14_519+15del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769404G>A | CA2637860102 | JUP | c.468+14C>T (n.468+14C>T) c.519+14C>T (n.519+14C>T) | gnomAD v4 |
| 17 | g.41769404G= | CA2260176116 | JUP | c.468+14C= (n.468+14C=) c.519+14C= (n.519+14C=) | |
| 17 | g.41769404G>T | CA626215890 | JUP | c.468+14C>A (n.468+14C>A) c.519+14C>A (n.519+14C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769405G>A | CA626215891 | JUP | c.468+13C>T (n.468+13C>T) c.519+13C>T (n.519+13C>T) | dbSNP gnomAD v2 |
| 17 | g.41769405G= | CA2260176117 | JUP | c.468+13C= (n.468+13C=) c.519+13C= (n.519+13C=) | |
| 17 | g.41769405G>T | CA2637860104 | JUP | c.468+13C>A (n.468+13C>A) c.519+13C>A (n.519+13C>A) | gnomAD v4 |
| 17 | g.41769407C>A | CA2637860105 | JUP | c.468+11G>T (n.468+11G>T) c.519+11G>T (n.519+11G>T) | gnomAD v4 |
| 17 | g.41769408C>A | CA2637860106 | JUP | c.468+10G>T (n.468+10G>T) c.519+10G>T (n.519+10G>T) | gnomAD v4 |
| 17 | g.41769408C>G | CA2637860107 | JUP | c.468+10G>C (n.468+10G>C) c.519+10G>C (n.519+10G>C) | gnomAD v4 |
| 17 | g.41769408C>T | CA2637860109 | JUP | c.468+10G>A (n.468+10G>A) c.519+10G>A (n.519+10G>A) | gnomAD v4 |
| 17 | g.41769409C>A | CA2637860114 | JUP | c.468+9G>T (n.468+9G>T) c.519+9G>T (n.519+9G>T) | gnomAD v4 |
| 17 | g.41769409C= | CA2260176118 | JUP | c.468+9G= (n.468+9G=) c.519+9G= (n.519+9G=) | |
| 17 | g.41769409C>G | CA626215892 | JUP | c.468+9G>C (n.468+9G>C) c.519+9G>C (n.519+9G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769409C>T | CA290700763 | JUP | c.468+9G>A (n.468+9G>A) c.519+9G>A (n.519+9G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769410T>A | CA2637860117 | JUP | c.468+8A>T (n.468+8A>T) c.519+8A>T (n.519+8A>T) | gnomAD v4 |
| 17 | g.41769410T>C | CA2740090944 | JUP | c.468+8A>G (n.468+8A>G) c.519+8A>G (n.519+8A>G) | ClinVar |
| 17 | g.41769410T>G | CA626215893 | JUP | c.468+8A>C (n.468+8A>C) c.519+8A>C (n.519+8A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769410T= | CA2260176119 | JUP | c.468+8A= (n.468+8A=) c.519+8A= (n.519+8A=) | |
| 17 | g.41769411C= | CA2260176120 | JUP | c.468+7G= (n.468+7G=) c.519+7G= (n.519+7G=) | |
| 17 | g.41769411C>T | CA2260176121 | JUP | c.468+7G>A (n.468+7G>A) c.519+7G>A (n.519+7G>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769413C= | CA2260176122 | JUP | c.468+5G= (n.468+5G=) c.519+5G= (n.519+5G=) | |
| 17 | g.41769413C>T | CA626215894 | JUP | c.468+5G>A (n.468+5G>A) c.519+5G>A (n.519+5G>A) | dbSNP gnomAD v2 |
| 17 | g.41769414A= | CA2260176123 | JUP | c.468+4T= (n.468+4T=) c.519+4T= (n.519+4T=) | |
| 17 | g.41769414A>G | CA8565487 | JUP | c.468+4T>C (n.468+4T>C) c.519+4T>C (n.519+4T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769415G>A | CA626215895 | JUP | c.468+3C>T (n.468+3C>T) c.519+3C>T (n.519+3C>T) | dbSNP gnomAD v2 |
| 17 | g.41769415G= | CA2260176124 | JUP | c.468+3C= (n.468+3C=) c.519+3C= (n.519+3C=) | |
| 17 | g.41769415G>T | CA8565488 | JUP | c.468+3C>A (n.468+3C>A) c.519+3C>A (n.519+3C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769416A>C | CA399504708 | JUP | c.468+2T>G (n.468+2T>G) c.519+2T>G (n.519+2T>G) | |
| 17 | g.41769416A>G | CA399504711 | JUP | c.468+2T>C (n.468+2T>C) c.519+2T>C (n.519+2T>C) | |
| 17 | g.41769416A>T | CA399504714 | JUP | c.468+2T>A (n.468+2T>A) c.519+2T>A (n.519+2T>A) | |
| 17 | g.41769417C>A | CA399504715 | JUP | c.468+1G>T (n.468+1G>T) c.519+1G>T (n.519+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769417C= | CA2260176125 | JUP | c.468+1G= (n.468+1G=) c.519+1G= (n.519+1G=) | |
| 17 | g.41769417C>G | CA399504716 | JUP | c.468+1G>C (n.468+1G>C) c.519+1G>C (n.519+1G>C) | |
| 17 | g.41769417C>T | CA399504719 | JUP | c.468+1G>A (n.468+1G>A) c.519+1G>A (n.519+1G>A) | |
| 17 | g.41769418C>A | CA500207561 | JUP | c.468G>T (p.Pro156=) c.519G>T (p.Pro173=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769418C= | CA2260176126 | JUP | c.468G= (p.Pro156=) c.519G= (p.Pro173=) | |
| 17 | g.41769418C>G | CA500207560 | JUP | c.468G>C (p.Pro156=) c.519G>C (p.Pro173=) | |
| 17 | g.41769418C>T | CA10575789 | JUP | c.468G>A (p.Pro156=) c.519G>A (p.Pro173=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 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 |