| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41767551G>A | CA399501622 | JUP | c.737C>T (p.Ala246Val) c.788C>T (p.Ala263Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767551G>C | CA399501625 | JUP | c.737C>G (p.Ala246Gly) c.788C>G (p.Ala263Gly) | |
| 17 | g.41767551G= | CA2260175203 | JUP | c.737C= (p.Ala246=) c.788C= (p.Ala263=) | |
| 17 | g.41767551G>T | CA399501626 | JUP | c.737C>A (p.Ala246Asp) c.788C>A (p.Ala263Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767552C>A | CA399501628 | JUP | c.736G>T (p.Ala246Ser) c.787G>T (p.Ala263Ser) | gnomAD v4 |
| 17 | g.41767552C>G | CA399501629 | JUP | c.736G>C (p.Ala246Pro) c.787G>C (p.Ala263Pro) | |
| 17 | g.41767552C>T | CA399501630 | JUP | c.736G>A (p.Ala246Thr) c.787G>A (p.Ala263Thr) | |
| 17 | g.41767553A>C | CA399501634 | JUP | c.735T>G (p.Tyr245Ter) c.786T>G (p.Tyr262Ter) | |
| 17 | g.41767553A>G | CA500024761 | JUP | c.735T>C (p.Tyr245=) c.786T>C (p.Tyr262=) | |
| 17 | g.41767553A>T | CA399501636 | JUP | c.735T>A (p.Tyr245Ter) c.786T>A (p.Tyr262Ter) | |
| 17 | g.41767554T>A | CA399501640 | JUP | c.734A>T (p.Tyr245Phe) c.785A>T (p.Tyr262Phe) | |
| 17 | g.41767554T>C | CA399501649 | JUP | c.734A>G (p.Tyr245Cys) c.785A>G (p.Tyr262Cys) | |
| 17 | g.41767554T>G | CA399501645 | JUP | c.734A>C (p.Tyr245Ser) c.785A>C (p.Tyr262Ser) | |
| 17 | g.41767555A>C | CA399501654 | JUP | c.733T>G (p.Tyr245Asp) c.784T>G (p.Tyr262Asp) | |
| 17 | g.41767555A>G | CA399501656 | JUP | c.733T>C (p.Tyr245His) c.784T>C (p.Tyr262His) | gnomAD v4 |
| 17 | g.41767555A>T | CA399501659 | JUP | c.733T>A (p.Tyr245Asn) c.784T>A (p.Tyr262Asn) | |
| 17 | g.41767556G>A | CA500024771 | JUP | c.732C>T (p.Phe244=) c.783C>T (p.Phe261=) | |
| 17 | g.41767556G>C | CA399501663 | JUP | c.732C>G (p.Phe244Leu) c.783C>G (p.Phe261Leu) | |
| 17 | g.41767556G>T | CA399501666 | JUP | c.732C>A (p.Phe244Leu) c.783C>A (p.Phe261Leu) | gnomAD v4 |
| 17 | g.41767557A= | CA2260175204 | JUP | c.731T= (p.Phe244=) c.782T= (p.Phe261=) | |
| 17 | g.41767557A>C | CA399501670 | JUP | c.731T>G (p.Phe244Cys) c.782T>G (p.Phe261Cys) | |
| 17 | g.41767557A>G | CA399501682 | JUP | c.731T>C (p.Phe244Ser) c.782T>C (p.Phe261Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767557A>T | CA399501686 | JUP | c.731T>A (p.Phe244Tyr) c.782T>A (p.Phe261Tyr) | |
| 17 | g.41767558del | CA2637859184 | JUP | c.731del (p.Phe244SerfsTer?) c.782del (p.Phe261SerfsTer?) | gnomAD v4 |
| 17 | g.41767558A>C | CA399501690 | JUP | c.730T>G (p.Phe244Val) c.781T>G (p.Phe261Val) | gnomAD v4 |
| 17 | g.41767558A>G | CA399501692 | JUP | c.730T>C (p.Phe244Leu) c.781T>C (p.Phe261Leu) | |
| 17 | g.41767558A>T | CA399501694 | JUP | c.730T>A (p.Phe244Ile) c.781T>A (p.Phe261Ile) | |
| 17 | g.41767559C>A | CA500024782 | JUP | c.729G>T (p.Leu243=) c.780G>T (p.Leu260=) | |
| 17 | g.41767559C>G | CA500024783 | JUP | c.729G>C (p.Leu243=) c.780G>C (p.Leu260=) | ClinVar |
| 17 | g.41767559C>T | CA500024785 | JUP | c.729G>A (p.Leu243=) c.780G>A (p.Leu260=) | ClinVar dbSNP |
| 17 | g.41767560A= | CA2260175205 | JUP | c.728T= (p.Leu243=) c.779T= (p.Leu260=) | |
| 17 | g.41767560A>C | CA399501702 | JUP | c.728T>G (p.Leu243Arg) c.779T>G (p.Leu260Arg) | gnomAD v4 |
| 17 | g.41767560A>G | CA399501699 | JUP | c.728T>C (p.Leu243Pro) c.779T>C (p.Leu260Pro) | dbSNP |
| 17 | g.41767560A>T | CA399501696 | JUP | c.728T>A (p.Leu243Gln) c.779T>A (p.Leu260Gln) | gnomAD v4 |
| 17 | g.41767562_41767603del | CA2637859187 | JUP | c.708-21_728del c.759-21_779del | gnomAD v4 |
| 17 | g.41767561G>A | CA500024786 | JUP | c.727C>T (p.Leu243=) c.778C>T (p.Leu260=) | |
| 17 | g.41767561G>C | CA399501703 | JUP | c.727C>G (p.Leu243Val) c.778C>G (p.Leu260Val) | |
| 17 | g.41767561G>T | CA399501704 | JUP | c.727C>A (p.Leu243Met) c.778C>A (p.Leu260Met) | gnomAD v4 |
| 17 | g.41767562G>A | CA500024788 | JUP | c.726C>T (p.Val242=) c.777C>T (p.Val259=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767562G>C | CA500024790 | JUP | c.726C>G (p.Val242=) c.777C>G (p.Val259=) | gnomAD v4 |
| 17 | g.41767562G>T | CA500024792 | JUP | c.726C>A (p.Val242=) c.777C>A (p.Val259=) | gnomAD v4 |
| 17 | g.41767565_41767568del | CA2637859192 | JUP | c.723_726del (p.Val242CysfsTer?) c.774_777del (p.Val259CysfsTer?) | gnomAD v4 |
| 17 | g.41767563A>C | CA399501705 | JUP | c.725T>G (p.Val242Gly) c.776T>G (p.Val259Gly) | gnomAD v4 |
| 17 | g.41767563A>G | CA399501707 | JUP | c.725T>C (p.Val242Ala) c.776T>C (p.Val259Ala) | |
| 17 | g.41767563A>T | CA399501712 | JUP | c.725T>A (p.Val242Asp) c.776T>A (p.Val259Asp) | |
| 17 | g.41767564C>A | CA399501723 | JUP | c.724G>T (p.Val242Phe) c.775G>T (p.Val259Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767564C= | CA2260175206 | JUP | c.724G= (p.Val242=) c.775G= (p.Val259=) | |
| 17 | g.41767564C>G | CA399501724 | JUP | c.724G>C (p.Val242Leu) c.775G>C (p.Val259Leu) | |
| 17 | g.41767564C>T | CA399501725 | JUP | c.724G>A (p.Val242Ile) c.775G>A (p.Val259Ile) | gnomAD v4 COSMIC |
| 17 | g.41767565C>A | CA500024801 | JUP | c.723G>T (p.Ser241=) c.774G>T (p.Ser258=) | |
| 17 | g.41767565C= | CA2260175207 | JUP | c.723G= (p.Ser241=) c.774G= (p.Ser258=) | |
| 17 | g.41767565C>G | CA500024799 | JUP | c.723G>C (p.Ser241=) c.774G>C (p.Ser258=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767565C>T | CA8565388 | JUP | c.723G>A (p.Ser241=) c.774G>A (p.Ser258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767566G>A | CA8565389 | JUP | c.722C>T (p.Ser241Leu) c.773C>T (p.Ser258Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41767566G>C | CA399501731 | JUP | c.722C>G (p.Ser241Trp) c.773C>G (p.Ser258Trp) | |
| 17 | g.41767566G= | CA2260175208 | JUP | c.722C= (p.Ser241=) c.773C= (p.Ser258=) | |
| 17 | g.41767566G>T | CA399501734 | JUP | c.722C>A (p.Ser241Ter) c.773C>A (p.Ser258Ter) | gnomAD v4 |
| 17 | g.41767567A= | CA2260175209 | JUP | c.721T= (p.Ser241=) c.772T= (p.Ser258=) | |
| 17 | g.41767567A>C | CA399501739 | JUP | c.721T>G (p.Ser241Ala) c.772T>G (p.Ser258Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767567A>G | CA399501745 | JUP | c.721T>C (p.Ser241Pro) c.772T>C (p.Ser258Pro) | |
| 17 | g.41767567A>T | CA399501742 | JUP | c.721T>A (p.Ser241Thr) c.772T>A (p.Ser258Thr) | |
| 17 | g.41767568C>A | CA399501750 | JUP | c.720G>T (p.Glu240Asp) c.771G>T (p.Glu257Asp) | |
| 17 | g.41767568C>G | CA399501752 | JUP | c.720G>C (p.Glu240Asp) c.771G>C (p.Glu257Asp) | |
| 17 | g.41767568C>T | CA500024810 | JUP | c.720G>A (p.Glu240=) c.771G>A (p.Glu257=) | |
| 17 | g.41767569T>A | CA399501756 | JUP | c.719A>T (p.Glu240Val) c.770A>T (p.Glu257Val) | gnomAD v4 |
| 17 | g.41767569T>C | CA399501758 | JUP | c.719A>G (p.Glu240Gly) c.770A>G (p.Glu257Gly) | gnomAD v4 |
| 17 | g.41767569T>G | CA399501763 | JUP | c.719A>C (p.Glu240Ala) c.770A>C (p.Glu257Ala) | gnomAD v4 |
| 17 | g.41767570C>A | CA399501769 | JUP | c.718G>T (p.Glu240Ter) c.769G>T (p.Glu257Ter) | |
| 17 | g.41767570C>G | CA399501772 | JUP | c.718G>C (p.Glu240Gln) c.769G>C (p.Glu257Gln) | |
| 17 | g.41767570C>T | CA399501779 | JUP | c.718G>A (p.Glu240Lys) c.769G>A (p.Glu257Lys) | |
| 17 | g.41767571del | CA2637859215 | JUP | c.718del (p.Glu240SerfsTer?) c.769del (p.Glu257SerfsTer?) | gnomAD v4 |
| 17 | g.41767571C>A | CA500024818 | JUP | c.717G>T (p.Val239=) c.768G>T (p.Val256=) | gnomAD v4 |
| 17 | g.41767571C>G | CA500024819 | JUP | c.717G>C (p.Val239=) c.768G>C (p.Val256=) | ClinVar |
| 17 | g.41767571C>T | CA500024820 | JUP | c.717G>A (p.Val239=) c.768G>A (p.Val256=) | |
| 17 | g.41767572A>C | CA399501805 | JUP | c.716T>G (p.Val239Gly) c.767T>G (p.Val256Gly) | gnomAD v4 |
| 17 | g.41767572A>G | CA399501792 | JUP | c.716T>C (p.Val239Ala) c.767T>C (p.Val256Ala) | ClinVar |
| 17 | g.41767572A>T | CA399501788 | JUP | c.716T>A (p.Val239Glu) c.767T>A (p.Val256Glu) | |
| 17 | g.41767573C>A | CA399501809 | JUP | c.715G>T (p.Val239Leu) c.766G>T (p.Val256Leu) | |
| 17 | g.41767573C>G | CA399501813 | JUP | c.715G>C (p.Val239Leu) c.766G>C (p.Val256Leu) | |
| 17 | g.41767573C>T | CA399501817 | JUP | c.715G>A (p.Val239Met) c.766G>A (p.Val256Met) | COSMIC |
| 17 | g.41767574del | CA2637859230 | JUP | c.714del (p.Val239TrpfsTer?) c.765del (p.Val256TrpfsTer?) | gnomAD v4 |
| 17 | g.41767574A>C | CA500024828 | JUP | c.714T>G (p.Pro238=) c.765T>G (p.Pro255=) | gnomAD v4 |
| 17 | g.41767574A>G | CA500024832 | JUP | c.714T>C (p.Pro238=) c.765T>C (p.Pro255=) | gnomAD v3 gnomAD v4 |
| 17 | g.41767574A>T | CA500024830 | JUP | c.714T>A (p.Pro238=) c.765T>A (p.Pro255=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767575G>A | CA399501822 | JUP | c.713C>T (p.Pro238Leu) c.764C>T (p.Pro255Leu) | |
| 17 | g.41767575G>C | CA399501826 | JUP | c.713C>G (p.Pro238Arg) c.764C>G (p.Pro255Arg) | |
| 17 | g.41767575G>T | CA399501830 | JUP | c.713C>A (p.Pro238His) c.764C>A (p.Pro255His) | gnomAD v4 |
| 17 | g.41767578del | CA2637859231 | JUP | c.713del (p.Pro238LeufsTer?) c.764del (p.Pro255LeufsTer?) | gnomAD v4 |
| 17 | g.41767576G>A | CA399501842 | JUP | c.712C>T (p.Pro238Ser) c.763C>T (p.Pro255Ser) | COSMIC |
| 17 | g.41767576G>C | CA399501848 | JUP | c.712C>G (p.Pro238Ala) c.763C>G (p.Pro255Ala) | |
| 17 | g.41767576G>T | CA399501845 | JUP | c.712C>A (p.Pro238Thr) c.763C>A (p.Pro255Thr) | gnomAD v4 |
| 17 | g.41767577G>A | CA500024842 | JUP | c.711C>T (p.Ser237=) c.762C>T (p.Ser254=) | COSMIC |
| 17 | g.41767577G>C | CA500024839 | JUP | c.711C>G (p.Ser237=) c.762C>G (p.Ser254=) | |
| 17 | g.41767577G>T | CA500024841 | JUP | c.711C>A (p.Ser237=) c.762C>A (p.Ser254=) | gnomAD v4 |
| 17 | g.41767577_41767578insTC | CA2637859239 | JUP | c.710_711insGA (p.Pro238ThrfsTer?) c.761_762insGA (p.Pro255ThrfsTer?) | gnomAD v4 |
| 17 | g.41767577_41767578insTT | CA2637859240 | JUP | c.710_711insAA (p.Pro238ThrfsTer?) c.761_762insAA (p.Pro255ThrfsTer?) | gnomAD v4 |
| 17 | g.41767578G>A | CA399501855 | JUP | c.710C>T (p.Ser237Phe) c.761C>T (p.Ser254Phe) | |
| 17 | g.41767578G>C | CA399501857 | JUP | c.710C>G (p.Ser237Cys) c.761C>G (p.Ser254Cys) | |
| 17 | g.41767578G>T | CA399501859 | JUP | c.710C>A (p.Ser237Tyr) c.761C>A (p.Ser254Tyr) | gnomAD v4 |
| 17 | g.41767579A>C | CA399501862 | JUP | c.709T>G (p.Ser237Ala) c.760T>G (p.Ser254Ala) | gnomAD v4 |
| 17 | g.41767579A>G | CA399501865 | JUP | c.709T>C (p.Ser237Pro) c.760T>C (p.Ser254Pro) | gnomAD v3 gnomAD v4 |
| 17 | g.41767579A>T | CA399501869 | JUP | c.709T>A (p.Ser237Thr) c.760T>A (p.Ser254Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767579_41767581del | CA2637859245 | JUP | c.708-1_709del c.759-1_760del | gnomAD v4 |
| 17 | g.41767580G>A | CA500024848 | JUP | c.708C>T (p.Ser236=) c.759C>T (p.Ser253=) | |
| 17 | g.41767580G>C | CA399501874 | JUP | c.708C>G (p.Ser236Arg) c.759C>G (p.Ser253Arg) | |
| 17 | g.41767580G>T | CA399501884 | JUP | c.708C>A (p.Ser236Arg) c.759C>A (p.Ser253Arg) | gnomAD v4 |
| 17 | g.41767581del | CA2637859252 | JUP | c.708-1del (n.708-1del) c.759-1del (n.759-1del) | gnomAD v4 |
| 17 | g.41767581C>A | CA399501888 | JUP | c.708-1G>T (n.708-1G>T) c.759-1G>T (n.759-1G>T) | |
| 17 | g.41767581C>G | CA399501890 | JUP | c.708-1G>C (n.708-1G>C) c.759-1G>C (n.759-1G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767581C>T | CA399501891 | JUP | c.708-1G>A (n.708-1G>A) c.759-1G>A (n.759-1G>A) | gnomAD v4 |
| 17 | g.41767581_41767582del | CA2637859253 | JUP | c.708-2_708-1del (n.708-2_708-1del) c.759-2_759-1del (n.759-2_759-1del) | gnomAD v4 |
| 17 | g.41767581_41767582insG | CA2809501662 | JUP | c.708-2_708-1insC (n.708-2_708-1insC) c.759-2_759-1insC (n.759-2_759-1insC) | |
| 17 | g.41767581_41767582insGG | CA2637859254 | JUP | c.708-2_708-1insCC (n.708-2_708-1insCC) c.759-2_759-1insCC (n.759-2_759-1insCC) | gnomAD v4 |
| 17 | g.41767582T>A | CA399501894 | JUP | c.708-2A>T (n.708-2A>T) c.759-2A>T (n.759-2A>T) | |
| 17 | g.41767582T>C | CA399501897 | JUP | c.708-2A>G (n.708-2A>G) c.759-2A>G (n.759-2A>G) | dbSNP gnomAD v4 |
| 17 | g.41767582T>G | CA399501895 | JUP | c.708-2A>C (n.708-2A>C) c.759-2A>C (n.759-2A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41767582T= | CA2260175211 | JUP | c.708-2A= (n.708-2A=) c.759-2A= (n.759-2A=) | |
| 17 | g.41767582_41767583delinsTG | CA2260175210 | JUP | c.708-3_708-2delinsCA (n.708-3_708-2delinsCA) c.759-3_759-2delinsCA (n.759-3_759-2delinsCA) | |
| 17 | g.41767582_41767583insTGGG | CA2637859268 | JUP | c.708-3_708-2insCCCA (n.708-3_708-2insCCCA) c.759-3_759-2insCCCA (n.759-3_759-2insCCCA) | gnomAD v4 |
| 17 | g.41767583G>A | CA2637859261 | JUP | c.708-3C>T (n.708-3C>T) c.759-3C>T (n.759-3C>T) | gnomAD v4 |
| 17 | g.41767583G= | CA2260175212 | JUP | c.708-3C= (n.708-3C=) c.759-3C= (n.759-3C=) | |
| 17 | g.41767583G>T | CA626216184 | JUP | c.708-3C>A (n.708-3C>A) c.759-3C>A (n.759-3C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767588_41767589insTTGGGGGGGGG | CA2809501664 | JUP | c.708-3_708-2insCCCAACCCCCC (n.708-3_708-2insCCCAACCCCCC) c.759-3_759-2insCCCAACCCCCC (n.759-3_759-2insCCCAACCCCCC) | |
| 17 | g.41767589_41767590insGGGGGGGG | CA2637859272 | JUP | c.708-3_708-2insCCCCCCCC (n.708-3_708-2insCCCCCCCC) c.759-3_759-2insCCCCCCCC (n.759-3_759-2insCCCCCCCC) | gnomAD v4 |
| 17 | g.41767589_41767590insGGGGGGGAGGGGGGGGGG | CA2809501663 | JUP | c.708-3_708-2insCCCTCCCCCCCCCCCCCC (n.708-3_708-2insCCCTCCCCCCCCCCCCCC) c.759-3_759-2insCCCTCCCCCCCCCCCCCC (n.759-3_759-2insCCCTCCCCCCCCCCCCCC) | |
| 17 | g.41767589dup | CA8565390 | JUP | c.708-3dup (n.708-3dup) c.759-3dup (n.759-3dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767588_41767589dup | CA2637859275 | JUP | c.708-4_708-3dup (n.708-4_708-3dup) c.759-4_759-3dup (n.759-4_759-3dup) | gnomAD v4 |
| 17 | g.41767587_41767589dup | CA2637859274 | JUP | c.708-5_708-3dup (n.708-5_708-3dup) c.759-5_759-3dup (n.759-5_759-3dup) | gnomAD v4 |
| 17 | g.41767586_41767589dup | CA2637859273 | JUP | c.708-6_708-3dup (n.708-6_708-3dup) c.759-6_759-3dup (n.759-6_759-3dup) | gnomAD v4 |
| 17 | g.41767589del | CA8565391 | JUP | c.708-3del (n.708-3del) c.759-3del (n.759-3del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41767588_41767589del | CA2637859265 | JUP | c.708-4_708-3del (n.708-4_708-3del) c.759-4_759-3del (n.759-4_759-3del) | gnomAD v4 |
| 17 | g.41767587_41767589del | CA2637859264 | JUP | c.708-5_708-3del (n.708-5_708-3del) c.759-5_759-3del (n.759-5_759-3del) | gnomAD v4 |
| 17 | g.41767586_41767589del | CA2637859263 | JUP | c.708-6_708-3del (n.708-6_708-3del) c.759-6_759-3del (n.759-6_759-3del) | gnomAD v4 |
| 17 | g.41767583_41767593dup | CA2637859271 | JUP | c.708-13_708-3dup (n.708-13_708-3dup) c.759-13_759-3dup (n.759-13_759-3dup) | gnomAD v4 |
| 17 | g.41767587_41767599del | CA2576268952 | JUP | c.708-15_708-3del (n.708-15_708-3del) c.759-15_759-3del (n.759-15_759-3del) | gnomAD v4 |
| 17 | g.41767583_41767584insAGCATGCGGACCAGAGCA | CA2733741592 | JUP | c.708-4_708-3insTGCTCTGGTCCGCATGCT (n.708-4_708-3insTGCTCTGGTCCGCATGCT) c.759-4_759-3insTGCTCTGGTCCGCATGCT (n.759-4_759-3insTGCTCTGGTCCGCATGCT) | dbSNP |
| 17 | g.41767584G>A | CA772068788 | JUP | c.708-4C>T (n.708-4C>T) c.759-4C>T (n.759-4C>T) | dbSNP gnomAD v4 |
| 17 | g.41767584G>C | CA137233 | JUP | c.708-4C>G (n.708-4C>G) c.759-4C>G (n.759-4C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767584G= | CA2260175213 | JUP | c.708-4C= (n.708-4C=) c.759-4C= (n.759-4C=) | |
| 17 | g.41767584G>T | CA2576268953 | JUP | c.708-4C>A (n.708-4C>A) c.759-4C>A (n.759-4C>A) | gnomAD v4 |
| 17 | g.41767588_41767599del | CA2637859284 | JUP | c.708-15_708-4del (n.708-15_708-4del) c.759-15_759-4del (n.759-15_759-4del) | gnomAD v4 |
| 17 | g.41767585G>T | CA2637859287 | JUP | c.708-5C>A (n.708-5C>A) c.759-5C>A (n.759-5C>A) | gnomAD v4 |
| 17 | g.41767586G>A | CA8565392 | JUP | c.708-6C>T (n.708-6C>T) c.759-6C>T (n.759-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767586G= | CA2260175214 | JUP | c.708-6C= (n.708-6C=) c.759-6C= (n.759-6C=) | |
| 17 | g.41767586G>T | CA983788073 | JUP | c.708-6C>A (n.708-6C>A) c.759-6C>A (n.759-6C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767586_41767587insATGCCACCCGACTTGAAGATGGC | CA2733741631 | JUP | c.708-7_708-6insGCCATCTTCAAGTCGGGTGGCAT (n.708-7_708-6insGCCATCTTCAAGTCGGGTGGCAT) c.759-7_759-6insGCCATCTTCAAGTCGGGTGGCAT (n.759-7_759-6insGCCATCTTCAAGTCGGGTGGCAT) | dbSNP |
| 17 | g.41767587G>A | CA137234 | JUP | c.708-7C>T (n.708-7C>T) c.759-7C>T (n.759-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767587G= | CA2260175215 | JUP | c.708-7C= (n.708-7C=) c.759-7C= (n.759-7C=) | |
| 17 | g.41767587G>T | CA2576268954 | JUP | c.708-7C>A (n.708-7C>A) c.759-7C>A (n.759-7C>A) | gnomAD v4 |
| 17 | g.41767590_41767593del | CA2637859294 | JUP | c.708-10_708-7del (n.708-10_708-7del) c.759-10_759-7del (n.759-10_759-7del) | gnomAD v4 |
| 17 | g.41767587_41767588insA | CA2637859300 | JUP | c.708-8_708-7insT (n.708-8_708-7insT) c.759-8_759-7insT (n.759-8_759-7insT) | gnomAD v4 |
| 17 | g.41767588G>A | CA2580093883 | JUP | c.708-8C>T (n.708-8C>T) c.759-8C>T (n.759-8C>T) | ClinVar gnomAD v4 |
| 17 | g.41767588G>C | CA2637859302 | JUP | c.708-8C>G (n.708-8C>G) c.759-8C>G (n.759-8C>G) | gnomAD v4 |
| 17 | g.41767588G>T | CA2576268955 | JUP | c.708-8C>A (n.708-8C>A) c.759-8C>A (n.759-8C>A) | gnomAD v4 |
| 17 | g.41767589G>A | CA2260175217 | JUP | c.708-9C>T (n.708-9C>T) c.759-9C>T (n.759-9C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767589G= | CA2260175216 | JUP | c.708-9C= (n.708-9C=) c.759-9C= (n.759-9C=) | |
| 17 | g.41767589G>T | CA2260175218 | JUP | c.708-9C>A (n.708-9C>A) c.759-9C>A (n.759-9C>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767590del | CA2637859314 | JUP | c.708-10del (n.708-10del) c.759-10del (n.759-10del) | gnomAD v4 |
| 17 | g.41767590T>A | CA772068804 | JUP | c.708-10A>T (n.708-10A>T) c.759-10A>T (n.759-10A>T) | dbSNP gnomAD v4 |
| 17 | g.41767590T>C | CA2637859320 | JUP | c.708-10A>G (n.708-10A>G) c.759-10A>G (n.759-10A>G) | gnomAD v4 |
| 17 | g.41767590T>G | CA983788147 | JUP | c.708-10A>C (n.708-10A>C) c.759-10A>C (n.759-10A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767590T= | CA2260175219 | JUP | c.708-10A= (n.708-10A=) c.759-10A= (n.759-10A=) | |
| 17 | g.41767591G>A | CA626216185 | JUP | c.708-11C>T (n.708-11C>T) c.759-11C>T (n.759-11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767591G= | CA2260175220 | JUP | c.708-11C= (n.708-11C=) c.759-11C= (n.759-11C=) | |
| 17 | g.41767591G>T | CA2576268956 | JUP | c.708-11C>A (n.708-11C>A) c.759-11C>A (n.759-11C>A) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGG | CA2637859326 | JUP | c.708-11_708-10insCCCCCCCC (n.708-11_708-10insCCCCCCCC) c.759-11_759-10insCCCCCCCC (n.759-11_759-10insCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGG | CA2637859334 | JUP | c.708-11_708-10insCCCCCCCCC (n.708-11_708-10insCCCCCCCCC) c.759-11_759-10insCCCCCCCCC (n.759-11_759-10insCCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGGG | CA2637859335 | JUP | c.708-11_708-10insCCCCCCCCCC (n.708-11_708-10insCCCCCCCCCC) c.759-11_759-10insCCCCCCCCCC (n.759-11_759-10insCCCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGGGG | CA2593970135 | JUP | c.708-11_708-10insCCCCCCCCCCC (n.708-11_708-10insCCCCCCCCCCC) c.759-11_759-10insCCCCCCCCCCC (n.759-11_759-10insCCCCCCCCCCC) | gnomAD v3 gnomAD v4 |
| 17 | g.41767593dup | CA2637859328 | JUP | c.708-11dup (n.708-11dup) c.759-11dup (n.759-11dup) | gnomAD v4 |
| 17 | g.41767592_41767593dup | CA2809501665 | JUP | c.708-12_708-11dup (n.708-12_708-11dup) c.759-12_759-11dup (n.759-12_759-11dup) | |
| 17 | g.41767593del | CA2637859333 | JUP | c.708-11del (n.708-11del) c.759-11del (n.759-11del) | gnomAD v4 |
| 17 | g.41767592_41767593del | CA2637859331 | JUP | c.708-12_708-11del (n.708-12_708-11del) c.759-12_759-11del (n.759-12_759-11del) | gnomAD v4 |
| 17 | g.41767592G>A | CA2637859344 | JUP | c.708-12C>T (n.708-12C>T) c.759-12C>T (n.759-12C>T) | gnomAD v4 |
| 17 | g.41767592G>C | CA8565393 | JUP | c.708-12C>G (n.708-12C>G) c.759-12C>G (n.759-12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767592G= | CA2260175221 | JUP | c.708-12C= (n.708-12C=) c.759-12C= (n.759-12C=) | |
| 17 | g.41767592G>T | CA2637859343 | JUP | c.708-12C>A (n.708-12C>A) c.759-12C>A (n.759-12C>A) | gnomAD v4 |
| 17 | g.41767594_41767597del | CA2637859342 | JUP | c.708-15_708-12del (n.708-15_708-12del) c.759-15_759-12del (n.759-15_759-12del) | gnomAD v4 |
| 17 | g.41767593G>A | CA626216186 | JUP | c.708-13C>T (n.708-13C>T) c.759-13C>T (n.759-13C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767593G>C | CA2576268957 | JUP | c.708-13C>G (n.708-13C>G) c.759-13C>G (n.759-13C>G) | gnomAD v4 |
| 17 | g.41767593G= | CA2260175222 | JUP | c.708-13C= (n.708-13C=) c.759-13C= (n.759-13C=) | |
| 17 | g.41767593G>T | CA290700077 | JUP | c.708-13C>A (n.708-13C>A) c.759-13C>A (n.759-13C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767593_41767594insGC | CA2637859356 | JUP | c.708-14_708-13insGC (n.708-14_708-13insGC) c.759-14_759-13insGC (n.759-14_759-13insGC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGC | CA2580582958 | JUP | c.708-14_708-13insGCC (n.708-14_708-13insGCC) c.759-14_759-13insGCC (n.759-14_759-13insGCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGC | CA2637859364 | JUP | c.708-14_708-13insGCCC (n.708-14_708-13insGCCC) c.759-14_759-13insGCCC (n.759-14_759-13insGCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGC | CA2637859363 | JUP | c.708-14_708-13insGCCCCCCC (n.708-14_708-13insGCCCCCCC) c.759-14_759-13insGCCCCCCC (n.759-14_759-13insGCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGC | CA2637859361 | JUP | c.708-14_708-13insGCCCCCCCC (n.708-14_708-13insGCCCCCCCC) c.759-14_759-13insGCCCCCCCC (n.759-14_759-13insGCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGGC | CA2695196482 | JUP | c.708-14_708-13insGCCCCCCCCC (n.708-14_708-13insGCCCCCCCCC) c.759-14_759-13insGCCCCCCCCC (n.759-14_759-13insGCCCCCCCCC) | |
| 17 | g.41767593_41767594insGGGGGGGGGGC | CA2637859360 | JUP | c.708-14_708-13insGCCCCCCCCCC (n.708-14_708-13insGCCCCCCCCCC) c.759-14_759-13insGCCCCCCCCCC (n.759-14_759-13insGCCCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGGGGC | CA2637859362 | JUP | c.708-14_708-13insGCCCCCCCCCCC (n.708-14_708-13insGCCCCCCCCCCC) c.759-14_759-13insGCCCCCCCCCCC (n.759-14_759-13insGCCCCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGGGGGGGGGC | CA2573332201 | JUP | c.708-14_708-13insGCCCCCCCCCCCCCCCC (n.708-14_708-13insGCCCCCCCCCCCCCCCC) c.759-14_759-13insGCCCCCCCCCCCCCCCC (n.759-14_759-13insGCCCCCCCCCCCCCCCC) | |
| 17 | g.41767594C>A | CA2576268958 | JUP | c.708-14G>T (n.708-14G>T) c.759-14G>T (n.759-14G>T) | gnomAD v4 |
| 17 | g.41767594C>G | CA2637859358 | JUP | c.708-14G>C (n.708-14G>C) c.759-14G>C (n.759-14G>C) | gnomAD v4 |
| 17 | g.41767594C>T | CA2637859357 | JUP | c.708-14G>A (n.708-14G>A) c.759-14G>A (n.759-14G>A) | gnomAD v4 |
| 17 | g.41767594dup | CA2499306850 | JUP | c.708-14dup (n.708-14dup) c.759-14dup (n.759-14dup) | gnomAD v4 |
| 17 | g.41767595A= | CA2260175223 | JUP | c.708-15T= (n.708-15T=) c.759-15T= (n.759-15T=) | |
| 17 | g.41767595A>C | CA2637859366 | JUP | c.708-15T>G (n.708-15T>G) c.759-15T>G (n.759-15T>G) | gnomAD v4 |
| 17 | g.41767595A>G | CA2576268959 | JUP | c.708-15T>C (n.708-15T>C) c.759-15T>C (n.759-15T>C) | gnomAD v4 |
| 17 | g.41767595A>T | CA983788169 | JUP | c.708-15T>A (n.708-15T>A) c.759-15T>A (n.759-15T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767595dup | CA2637859367 | JUP | c.708-15dup (n.708-15dup) c.759-15dup (n.759-15dup) | gnomAD v4 |
| 17 | g.41767595_41767596insT | CA2576268961 | JUP | c.708-16_708-15insA (n.708-16_708-15insA) c.759-16_759-15insA (n.759-16_759-15insA) | gnomAD v4 |
| 17 | g.41767595_41767596insATCAAACCCCCCCCCCCCCCGGGGGTGGGGGGGGGGGGGCCT | CA2809501666 | JUP | c.708-16_708-15insAGGCCCCCCCCCCCCCACCCCCGGGGGGGGGGGGGGTTTGAT (n.708-16_708-15insAGGCCCCCCCCCCCCCACCCCCGGGGGGGGGGGGGGTTTGAT) c.759-16_759-15insAGGCCCCCCCCCCCCCACCCCCGGGGGGGGGGGGGGTTTGAT (n.759-16_759-15insAGGCCCCCCCCCCCCCACCCCCGGGGGGGGGGGGGGTTTGAT) | |
| 17 | g.41767596G>A | CA2576268960 | JUP | c.708-16C>T (n.708-16C>T) c.759-16C>T (n.759-16C>T) | gnomAD v4 |
| 17 | g.41767596G>C | CA2637859376 | JUP | c.708-16C>G (n.708-16C>G) c.759-16C>G (n.759-16C>G) | gnomAD v4 |
| 17 | g.41767596G>T | CA2637859378 | JUP | c.708-16C>A (n.708-16C>A) c.759-16C>A (n.759-16C>A) | gnomAD v4 |
| 17 | g.41767599_41767600insGGGGGGGGGCCTGGGG | CA2637859371 | JUP | c.708-16_708-15insAGGCCCCCCCCCCCCC (n.708-16_708-15insAGGCCCCCCCCCCCCC) c.759-16_759-15insAGGCCCCCCCCCCCCC (n.759-16_759-15insAGGCCCCCCCCCCCCC) | gnomAD v4 |
| 17 | g.41767599dup | CA2637859373 | JUP | c.708-16dup (n.708-16dup) c.759-16dup (n.759-16dup) | gnomAD v4 |
| 17 | g.41767599del | CA2637859374 | JUP | c.708-16del (n.708-16del) c.759-16del (n.759-16del) | gnomAD v4 |
| 17 | g.41767597G>A | CA983788175 | JUP | c.708-17C>T (n.708-17C>T) c.759-17C>T (n.759-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767597G= | CA2260175224 | JUP | c.708-17C= (n.708-17C=) c.759-17C= (n.759-17C=) | |
| 17 | g.41767597G>T | CA2637859381 | JUP | c.708-17C>A (n.708-17C>A) c.759-17C>A (n.759-17C>A) | gnomAD v4 |
| 17 | g.41767598G>A | CA2637859382 | JUP | c.708-18C>T (n.708-18C>T) c.759-18C>T (n.759-18C>T) | gnomAD v4 |
| 17 | g.41767598G>C | CA2637859383 | JUP | c.708-18C>G (n.708-18C>G) c.759-18C>G (n.759-18C>G) | gnomAD v4 |
| 17 | g.41767598G>T | CA2576268962 | JUP | c.708-18C>A (n.708-18C>A) c.759-18C>A (n.759-18C>A) | gnomAD v4 |
| 17 | g.41767598_41767602delinsGGTTA | CA2260175225 | JUP | c.708-22_708-18delinsTAACC (n.708-22_708-18delinsTAACC) c.759-22_759-18delinsTAACC (n.759-22_759-18delinsTAACC) | |
| 17 | g.41767599G>A | CA2637859385 | JUP | c.708-19C>T (n.708-19C>T) c.759-19C>T (n.759-19C>T) | gnomAD v4 |
| 17 | g.41767599G>T | CA2576268963 | JUP | c.708-19C>A (n.708-19C>A) c.759-19C>A (n.759-19C>A) | gnomAD v4 |
| 17 | g.41767601_41767604del | CA626216187 | JUP | c.708-22_708-19del (n.708-22_708-19del) c.759-22_759-19del (n.759-22_759-19del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767600T>A | CA2637859391 | JUP | c.708-20A>T (n.708-20A>T) c.759-20A>T (n.759-20A>T) | gnomAD v4 |
| 17 | g.41767600T>G | CA983788180 | JUP | c.708-20A>C (n.708-20A>C) c.759-20A>C (n.759-20A>C) | gnomAD v3 gnomAD v4 |
| 17 | g.41767601del | CA2576268964 | JUP | c.708-20del (n.708-20del) c.759-20del (n.759-20del) | gnomAD v4 |
| 17 | g.41767601T>C | CA2637859393 | JUP | c.708-21A>G (n.708-21A>G) c.759-21A>G (n.759-21A>G) | gnomAD v4 |
| 17 | g.41767601T>G | CA2637859394 | JUP | c.708-21A>C (n.708-21A>C) c.759-21A>C (n.759-21A>C) | gnomAD v4 |
| 17 | g.41767602A>G | CA2637859395 | JUP | c.708-22T>C (n.708-22T>C) c.759-22T>C (n.759-22T>C) | gnomAD v4 |
| 17 | g.41767603G>A | CA2637859396 | JUP | c.708-23C>T (n.708-23C>T) c.759-23C>T (n.759-23C>T) | gnomAD v4 |
| 17 | g.41767603G>C | CA626216188 | JUP | c.708-23C>G (n.708-23C>G) c.759-23C>G (n.759-23C>G) | dbSNP gnomAD v2 |
| 17 | g.41767603G= | CA2260175226 | JUP | c.708-23C= (n.708-23C=) c.759-23C= (n.759-23C=) | |
| 17 | g.41767603G>T | CA2637859398 | JUP | c.708-23C>A (n.708-23C>A) c.759-23C>A (n.759-23C>A) | gnomAD v4 |
| 17 | g.41767604T>C | CA2637859400 | JUP | c.708-24A>G (n.708-24A>G) c.759-24A>G (n.759-24A>G) | gnomAD v4 |
| 17 | g.41767605A>G | CA2637859401 | JUP | c.708-25T>C (n.708-25T>C) c.759-25T>C (n.759-25T>C) | gnomAD v4 |
| 17 | g.41767606C>A | CA2637859403 | JUP | c.708-26G>T (n.708-26G>T) c.759-26G>T (n.759-26G>T) | gnomAD v4 |
| 17 | g.41767606C= | CA2260175227 | JUP | c.708-26G= (n.708-26G=) c.759-26G= (n.759-26G=) | |
| 17 | g.41767606C>T | CA8565394 | JUP | c.708-26G>A (n.708-26G>A) c.759-26G>A (n.759-26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767607G>A | CA8565395 | JUP | c.708-27C>T (n.708-27C>T) c.759-27C>T (n.759-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767607G= | CA2260175228 | JUP | c.708-27C= (n.708-27C=) c.759-27C= (n.759-27C=) | |
| 17 | g.41767607G>T | CA626216189 | JUP | c.708-27C>A (n.708-27C>A) c.759-27C>A (n.759-27C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767608C>A | CA2637859409 | JUP | c.708-28G>T (n.708-28G>T) c.759-28G>T (n.759-28G>T) | gnomAD v4 |
| 17 | g.41767608C= | CA2260175229 | JUP | c.708-28G= (n.708-28G=) c.759-28G= (n.759-28G=) | |
| 17 | g.41767608C>T | CA626216190 | JUP | c.708-28G>A (n.708-28G>A) c.759-28G>A (n.759-28G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767609T>C | CA2637859412 | JUP | c.708-29A>G (n.708-29A>G) c.759-29A>G (n.759-29A>G) | gnomAD v4 |
| 17 | g.41767609T>G | CA2573039629 | JUP | c.708-29A>C (n.708-29A>C) c.759-29A>C (n.759-29A>C) | |
| 17 | g.41767610G>A | CA626216191 | JUP | c.708-30C>T (n.708-30C>T) c.759-30C>T (n.759-30C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767610G= | CA2260175230 | JUP | c.708-30C= (n.708-30C=) c.759-30C= (n.759-30C=) | |
| 17 | g.41767610G>T | CA2637859414 | JUP | c.708-30C>A (n.708-30C>A) c.759-30C>A (n.759-30C>A) | gnomAD v4 |
| 17 | g.41767611A>G | CA2637859415 | JUP | c.708-31T>C (n.708-31T>C) c.759-31T>C (n.759-31T>C) | gnomAD v4 |
| 17 | g.41767612G>A | CA626216192 | JUP | c.708-32C>T (n.708-32C>T) c.759-32C>T (n.759-32C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767612G= | CA2260175231 | JUP | c.708-32C= (n.708-32C=) c.759-32C= (n.759-32C=) | |
| 17 | g.41767612G>T | CA2637859416 | JUP | c.708-32C>A (n.708-32C>A) c.759-32C>A (n.759-32C>A) | gnomAD v4 |
| 17 | g.41767613G>A | CA8565397 | JUP | c.708-33C>T (n.708-33C>T) c.759-33C>T (n.759-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767613G= | CA2260175232 | JUP | c.708-33C= (n.708-33C=) c.759-33C= (n.759-33C=) | |
| 17 | g.41767613G>T | CA8565396 | JUP | c.708-33C>A (n.708-33C>A) c.759-33C>A (n.759-33C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767615C>A | CA626216193 | JUP | c.708-35G>T (n.708-35G>T) c.759-35G>T (n.759-35G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767615C= | CA2260175233 | JUP | c.708-35G= (n.708-35G=) c.759-35G= (n.759-35G=) | |
| 17 | g.41767615C>T | CA2260175234 | JUP | c.708-35G>A (n.708-35G>A) c.759-35G>A (n.759-35G>A) | dbSNP |
| 17 | g.41767617del | CA2576268965 | JUP | c.708-35del (n.708-35del) c.759-35del (n.759-35del) | gnomAD v4 |
| 17 | g.41767616C>A | CA2576268966 | JUP | c.708-36G>T (n.708-36G>T) c.759-36G>T (n.759-36G>T) | gnomAD v4 |
| 17 | g.41767617C>A | CA2576268967 | JUP | c.708-37G>T (n.708-37G>T) c.759-37G>T (n.759-37G>T) | gnomAD v4 |
| 17 | g.41767617C= | CA2260175235 | JUP | c.708-37G= (n.708-37G=) c.759-37G= (n.759-37G=) | |
| 17 | g.41767617C>T | CA2260175236 | JUP | c.708-37G>A (n.708-37G>A) c.759-37G>A (n.759-37G>A) | dbSNP gnomAD v4 |
| 17 | g.41767619G>A | CA2741532974 | JUP | c.708-39C>T (n.708-39C>T) c.759-39C>T (n.759-39C>T) | |
| 17 | g.41767619G>C | CA2637859422 | JUP | c.708-39C>G (n.708-39C>G) c.759-39C>G (n.759-39C>G) | gnomAD v4 |
| 17 | g.41767619G>T | CA2637859423 | JUP | c.708-39C>A (n.708-39C>A) c.759-39C>A (n.759-39C>A) | gnomAD v4 |
| 17 | g.41767620A>G | CA2637859424 | JUP | c.708-40T>C (n.708-40T>C) c.759-40T>C (n.759-40T>C) | gnomAD v4 |
| 17 | g.41767620A>T | CA2637859425 | JUP | c.708-40T>A (n.708-40T>A) c.759-40T>A (n.759-40T>A) | gnomAD v4 |
| 17 | g.41767621G>A | CA626216194 | JUP | c.708-41C>T (n.708-41C>T) c.759-41C>T (n.759-41C>T) | dbSNP gnomAD v2 |
| 17 | g.41767621G= | CA2260175237 | JUP | c.708-41C= (n.708-41C=) c.759-41C= (n.759-41C=) | |
| 17 | g.41767621G>T | CA2637859426 | JUP | c.708-41C>A (n.708-41C>A) c.759-41C>A (n.759-41C>A) | gnomAD v4 |
| 17 | g.41767622G>A | CA2260175239 | JUP | c.708-42C>T (n.708-42C>T) c.759-42C>T (n.759-42C>T) | dbSNP gnomAD v4 |
| 17 | g.41767622G= | CA2260175238 | JUP | c.708-42C= (n.708-42C=) c.759-42C= (n.759-42C=) | |
| 17 | g.41767622G>T | CA2637859427 | JUP | c.708-42C>A (n.708-42C>A) c.759-42C>A (n.759-42C>A) | gnomAD v4 |
| 17 | g.41767623C>A | CA2637859428 | JUP | c.708-43G>T (n.708-43G>T) c.759-43G>T (n.759-43G>T) | gnomAD v4 |
| 17 | g.41767624C>A | CA2576268968 | JUP | c.708-44G>T (n.708-44G>T) c.759-44G>T (n.759-44G>T) | |
| 17 | g.41767624C= | CA2260175240 | JUP | c.708-44G= (n.708-44G=) c.759-44G= (n.759-44G=) | |
| 17 | g.41767624C>T | CA626216195 | JUP | c.708-44G>A (n.708-44G>A) c.759-44G>A (n.759-44G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767625T>A | CA2637859432 | JUP | c.708-45A>T (n.708-45A>T) c.759-45A>T (n.759-45A>T) | gnomAD v4 |
| 17 | g.41767625T>C | CA8565398 | JUP | c.708-45A>G (n.708-45A>G) c.759-45A>G (n.759-45A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767625T= | CA2260175241 | JUP | c.708-45A= (n.708-45A=) c.759-45A= (n.759-45A=) | |
| 17 | g.41767626G>A | CA290700085 | JUP | c.708-46C>T (n.708-46C>T) c.759-46C>T (n.759-46C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767626G>C | CA2260175243 | JUP | c.708-46C>G (n.708-46C>G) c.759-46C>G (n.759-46C>G) | dbSNP |
| 17 | g.41767626G= | CA2260175242 | JUP | c.708-46C= (n.708-46C=) c.759-46C= (n.759-46C=) | |
| 17 | g.41767626G>T | CA2637859437 | JUP | c.708-46C>A (n.708-46C>A) c.759-46C>A (n.759-46C>A) | gnomAD v4 |
| 17 | g.41767627G>A | CA626216196 | JUP | c.708-47C>T (n.708-47C>T) c.759-47C>T (n.759-47C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767627G>C | CA626216197 | JUP | c.708-47C>G (n.708-47C>G) c.759-47C>G (n.759-47C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767627G= | CA2260175244 | JUP | c.708-47C= (n.708-47C=) c.759-47C= (n.759-47C=) | |
| 17 | g.41767627G>T | CA2637859440 | JUP | c.708-47C>A (n.708-47C>A) c.759-47C>A (n.759-47C>A) | gnomAD v4 |
| 17 | g.41767628C>A | CA2637859442 | JUP | c.708-48G>T (n.708-48G>T) c.759-48G>T (n.759-48G>T) | gnomAD v4 |
| 17 | g.41767628C= | CA2260175245 | JUP | c.708-48G= (n.708-48G=) c.759-48G= (n.759-48G=) | |
| 17 | g.41767628C>T | CA290700088 | JUP | c.708-48G>A (n.708-48G>A) c.759-48G>A (n.759-48G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767629A= | CA2260175246 | JUP | c.708-49T= (n.708-49T=) c.759-49T= (n.759-49T=) | |
| 17 | g.41767629A>C | CA626216198 | JUP | c.708-49T>G (n.708-49T>G) c.759-49T>G (n.759-49T>G) | dbSNP gnomAD v2 |
| 17 | g.41767629A>G | CA2809501667 | JUP | c.708-49T>C (n.708-49T>C) c.759-49T>C (n.759-49T>C) | |
| 17 | g.41767629A>T | CA2637859444 | JUP | c.708-49T>A (n.708-49T>A) c.759-49T>A (n.759-49T>A) | gnomAD v4 |
| 17 | g.41767630T>C | CA2637859446 | JUP | c.708-50A>G (n.708-50A>G) c.759-50A>G (n.759-50A>G) | gnomAD v4 |
| 17 | g.41767632C>A | CA2637859447 | JUP | c.708-52G>T (n.708-52G>T) c.759-52G>T (n.759-52G>T) | gnomAD v4 |
| 17 | g.41767632C= | CA2260175247 | JUP | c.708-52G= (n.708-52G=) c.759-52G= (n.759-52G=) | |
| 17 | g.41767632C>T | CA626216199 | JUP | c.708-52G>A (n.708-52G>A) c.759-52G>A (n.759-52G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767633A= | CA2260175248 | JUP | c.708-53T= (n.708-53T=) c.759-53T= (n.759-53T=) | |
| 17 | g.41767633A>G | CA772068818 | JUP | c.708-53T>C (n.708-53T>C) c.759-53T>C (n.759-53T>C) | dbSNP gnomAD v4 |
| 17 | g.41767634T>A | CA2576268969 | JUP | c.708-54A>T (n.708-54A>T) c.759-54A>T (n.759-54A>T) | |
| 17 | g.41767636_41767637del | CA2637859448 | JUP | c.708-55_708-54del (n.708-55_708-54del) c.759-55_759-54del (n.759-55_759-54del) | gnomAD v4 |
| 17 | g.41767635G>A | CA2576268970 | JUP | c.708-55C>T (n.708-55C>T) c.759-55C>T (n.759-55C>T) | gnomAD v4 |
| 17 | g.41767635G>T | CA2637859449 | JUP | c.708-55C>A (n.708-55C>A) c.759-55C>A (n.759-55C>A) | gnomAD v4 |
| 17 | g.41767636T>C | CA290700090 | JUP | c.708-56A>G (n.708-56A>G) c.759-56A>G (n.759-56A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767636T= | CA2260175249 | JUP | c.708-56A= (n.708-56A=) c.759-56A= (n.759-56A=) | |
| 17 | g.41767637G>A | CA290700092 | JUP | c.708-57C>T (n.708-57C>T) c.759-57C>T (n.759-57C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767637G= | CA2260175250 | JUP | c.708-57C= (n.708-57C=) c.759-57C= (n.759-57C=) | |
| 17 | g.41767637G>T | CA2637859452 | JUP | c.708-57C>A (n.708-57C>A) c.759-57C>A (n.759-57C>A) | gnomAD v4 |
| 17 | g.41767638A>T | CA2637859453 | JUP | c.708-58T>A (n.708-58T>A) c.759-58T>A (n.759-58T>A) | gnomAD v4 |
| 17 | g.41767639G>T | CA2637859454 | JUP | c.708-59C>A (n.708-59C>A) c.759-59C>A (n.759-59C>A) | gnomAD v4 |
| 17 | g.41767640C>A | CA2637859455 | JUP | c.708-60G>T (n.708-60G>T) c.759-60G>T (n.759-60G>T) | gnomAD v4 |
| 17 | g.41767640C>T | CA2576268971 | JUP | c.708-60G>A (n.708-60G>A) c.759-60G>A (n.759-60G>A) | gnomAD v4 |
| 17 | g.41767641C>A | CA2576268972 | JUP | c.708-61G>T (n.708-61G>T) c.759-61G>T (n.759-61G>T) | gnomAD v4 |
| 17 | g.41767641C= | CA2260175251 | JUP | c.708-61G= (n.708-61G=) c.759-61G= (n.759-61G=) | |
| 17 | g.41767641C>G | CA2260175252 | JUP | c.708-61G>C (n.708-61G>C) c.759-61G>C (n.759-61G>C) | dbSNP gnomAD v4 |
| 17 | g.41767641C>T | CA2637859459 | JUP | c.708-61G>A (n.708-61G>A) c.759-61G>A (n.759-61G>A) | gnomAD v4 |
| 17 | g.41767642T>A | CA2637859461 | JUP | c.708-62A>T (n.708-62A>T) c.759-62A>T (n.759-62A>T) | gnomAD v4 |
| 17 | g.41767642T>C | CA2637859462 | JUP | c.708-62A>G (n.708-62A>G) c.759-62A>G (n.759-62A>G) | gnomAD v4 |
| 17 | g.41767643G>A | CA2637859463 | JUP | c.708-63C>T (n.708-63C>T) c.759-63C>T (n.759-63C>T) | gnomAD v4 |
| 17 | g.41767643G>C | CA2637859464 | JUP | c.708-63C>G (n.708-63C>G) c.759-63C>G (n.759-63C>G) | gnomAD v4 |
| 17 | g.41767643G>T | CA2576268973 | JUP | c.708-63C>A (n.708-63C>A) c.759-63C>A (n.759-63C>A) | gnomAD v4 |
| 17 | g.41767644G>A | CA2637859465 | JUP | c.708-64C>T (n.708-64C>T) c.759-64C>T (n.759-64C>T) | gnomAD v4 |
| 17 | g.41767644G>T | CA2637859466 | JUP | c.708-64C>A (n.708-64C>A) c.759-64C>A (n.759-64C>A) | gnomAD v4 |
| 17 | g.41767645C>A | CA2637859467 | JUP | c.708-65G>T (n.708-65G>T) c.759-65G>T (n.759-65G>T) | gnomAD v4 |
| 17 | g.41767645C>T | CA2637859468 | JUP | c.708-65G>A (n.708-65G>A) c.759-65G>A (n.759-65G>A) | gnomAD v4 |
| 17 | g.41767646A= | CA2260175253 | JUP | c.708-66T= (n.708-66T=) c.759-66T= (n.759-66T=) | |
| 17 | g.41767646A>G | CA2260175254 | JUP | c.708-66T>C (n.708-66T>C) c.759-66T>C (n.759-66T>C) | dbSNP gnomAD v4 |
| 17 | g.41767647T>C | CA772068825 | JUP | c.708-67A>G (n.708-67A>G) c.759-67A>G (n.759-67A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767647T= | CA2260175255 | JUP | c.708-67A= (n.708-67A=) c.759-67A= (n.759-67A=) | |
| 17 | g.41767648G>A | CA2637859471 | JUP | c.708-68C>T (n.708-68C>T) c.759-68C>T (n.759-68C>T) | gnomAD v4 |
| 17 | g.41767648G>T | CA2576268974 | JUP | c.708-68C>A (n.708-68C>A) c.759-68C>A (n.759-68C>A) | gnomAD v4 |
| 17 | g.41767649G>T | CA2637859472 | JUP | c.708-69C>A (n.708-69C>A) c.759-69C>A (n.759-69C>A) | gnomAD v4 |
| 17 | g.41767650G>A | CA2260175257 | JUP | c.708-70C>T (n.708-70C>T) c.759-70C>T (n.759-70C>T) | dbSNP |
| 17 | g.41767650G= | CA2260175256 | JUP | c.708-70C= (n.708-70C=) c.759-70C= (n.759-70C=) | |
| 17 | g.41767650G>T | CA2260175258 | JUP | c.708-70C>A (n.708-70C>A) c.759-70C>A (n.759-70C>A) | dbSNP gnomAD v4 |
| 17 | g.41767651T>C | CA2637859473 | JUP | c.708-71A>G (n.708-71A>G) c.759-71A>G (n.759-71A>G) | gnomAD v4 |