| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41769188G>A | CA399503600 | JUP | c.488C>T (p.Ala163Val) c.539C>T (p.Ala180Val) | gnomAD v4 |
| 17 | g.41769188G>C | CA399503601 | JUP | c.488C>G (p.Ala163Gly) c.539C>G (p.Ala180Gly) | |
| 17 | g.41769188G>T | CA399503598 | JUP | c.488C>A (p.Ala163Asp) c.539C>A (p.Ala180Asp) | gnomAD v4 |
| 17 | g.41769189C>A | CA399503605 | JUP | c.487G>T (p.Ala163Ser) c.538G>T (p.Ala180Ser) | |
| 17 | g.41769189C= | CA2260175994 | JUP | c.487G= (p.Ala163=) c.538G= (p.Ala180=) | |
| 17 | g.41769189C>G | CA399503603 | JUP | c.487G>C (p.Ala163Pro) c.538G>C (p.Ala180Pro) | |
| 17 | g.41769189C>T | CA8565459 | JUP | c.487G>A (p.Ala163Thr) c.538G>A (p.Ala180Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769190C>A | CA500207988 | JUP | c.486G>T (p.Ala162=) c.537G>T (p.Ala179=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769190C= | CA2260175995 | JUP | c.486G= (p.Ala162=) c.537G= (p.Ala179=) | |
| 17 | g.41769190C>G | CA500207990 | JUP | c.486G>C (p.Ala162=) c.537G>C (p.Ala179=) | |
| 17 | g.41769190C>T | CA137218 | JUP | c.486G>A (p.Ala162=) c.537G>A (p.Ala179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769191G>A | CA8565460 | JUP | c.485C>T (p.Ala162Val) c.536C>T (p.Ala179Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41769191G>C | CA399503608 | JUP | c.485C>G (p.Ala162Gly) c.536C>G (p.Ala179Gly) | |
| 17 | g.41769191G= | CA2260175996 | JUP | c.485C= (p.Ala162=) c.536C= (p.Ala179=) | |
| 17 | g.41769191G>T | CA399503610 | JUP | c.485C>A (p.Ala162Glu) c.536C>A (p.Ala179Glu) | |
| 17 | g.41769192C>A | CA399503612 | JUP | c.484G>T (p.Ala162Ser) c.535G>T (p.Ala179Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769192C= | CA2260175997 | JUP | c.484G= (p.Ala162=) c.535G= (p.Ala179=) | |
| 17 | g.41769192C>G | CA399503613 | JUP | c.484G>C (p.Ala162Pro) c.535G>C (p.Ala179Pro) | |
| 17 | g.41769192C>T | CA399503615 | JUP | c.484G>A (p.Ala162Thr) c.535G>A (p.Ala179Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769193C>A | CA399503616 | JUP | c.483G>T (p.Lys161Asn) c.534G>T (p.Lys178Asn) | |
| 17 | g.41769193C= | CA2260175998 | JUP | c.483G= (p.Lys161=) c.534G= (p.Lys178=) | |
| 17 | g.41769193C>G | CA399503618 | JUP | c.483G>C (p.Lys161Asn) c.534G>C (p.Lys178Asn) | |
| 17 | g.41769193C>T | CA500207995 | JUP | c.483G>A (p.Lys161=) c.534G>A (p.Lys178=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769194T>A | CA399503620 | JUP | c.482A>T (p.Lys161Met) c.533A>T (p.Lys178Met) | |
| 17 | g.41769194T>C | CA399503621 | JUP | c.482A>G (p.Lys161Arg) c.533A>G (p.Lys178Arg) | |
| 17 | g.41769194T>G | CA399503624 | JUP | c.482A>C (p.Lys161Thr) c.533A>C (p.Lys178Thr) | |
| 17 | g.41769195T>A | CA399503627 | JUP | c.481A>T (p.Lys161Ter) c.532A>T (p.Lys178Ter) | |
| 17 | g.41769195T>C | CA399503629 | JUP | c.481A>G (p.Lys161Glu) c.532A>G (p.Lys178Glu) | |
| 17 | g.41769195T>G | CA399503631 | JUP | c.481A>C (p.Lys161Gln) c.532A>C (p.Lys178Gln) | COSMIC |
| 17 | g.41769196G>A | CA500208001 | JUP | c.480C>T (p.Thr160=) c.531C>T (p.Thr177=) | gnomAD v4 |
| 17 | g.41769196G>C | CA500207999 | JUP | c.480C>G (p.Thr160=) c.531C>G (p.Thr177=) | gnomAD v4 |
| 17 | g.41769196G>T | CA500208000 | JUP | c.480C>A (p.Thr160=) c.531C>A (p.Thr177=) | |
| 17 | g.41769197G>A | CA399503634 | JUP | c.479C>T (p.Thr160Ile) c.530C>T (p.Thr177Ile) | |
| 17 | g.41769197G>C | CA399503638 | JUP | c.479C>G (p.Thr160Ser) c.530C>G (p.Thr177Ser) | |
| 17 | g.41769197G>T | CA399503635 | JUP | c.479C>A (p.Thr160Asn) c.530C>A (p.Thr177Asn) | |
| 17 | g.41769198T>A | CA399503641 | JUP | c.478A>T (p.Thr160Ser) c.529A>T (p.Thr177Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769198T>C | CA399503643 | JUP | c.478A>G (p.Thr160Ala) c.529A>G (p.Thr177Ala) | |
| 17 | g.41769198T>G | CA399503644 | JUP | c.478A>C (p.Thr160Pro) c.529A>C (p.Thr177Pro) | |
| 17 | g.41769198T= | CA2260175999 | JUP | c.478A= (p.Thr160=) c.529A= (p.Thr177=) | |
| 17 | g.41769199C>A | CA500208005 | JUP | c.477G>T (p.Val159=) c.528G>T (p.Val176=) | gnomAD v4 |
| 17 | g.41769199C>G | CA500208007 | JUP | c.477G>C (p.Val159=) c.528G>C (p.Val176=) | |
| 17 | g.41769199C>T | CA500208008 | JUP | c.477G>A (p.Val159=) c.528G>A (p.Val176=) | |
| 17 | g.41769200A= | CA2260176000 | JUP | c.476T= (p.Val159=) c.527T= (p.Val176=) | |
| 17 | g.41769200A>C | CA399503647 | JUP | c.476T>G (p.Val159Gly) c.527T>G (p.Val176Gly) | |
| 17 | g.41769200A>G | CA399503649 | JUP | c.476T>C (p.Val159Ala) c.527T>C (p.Val176Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769200A>T | CA399503650 | JUP | c.476T>A (p.Val159Glu) c.527T>A (p.Val176Glu) | |
| 17 | g.41769201C>A | CA8565461 | JUP | c.475G>T (p.Val159Leu) c.526G>T (p.Val176Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769201C= | CA2260176001 | JUP | c.475G= (p.Val159=) c.526G= (p.Val176=) | |
| 17 | g.41769201C>G | CA399503654 | JUP | c.475G>C (p.Val159Leu) c.526G>C (p.Val176Leu) | |
| 17 | g.41769201C>T | CA399503657 | JUP | c.475G>A (p.Val159Met) c.526G>A (p.Val176Met) | |
| 17 | g.41769202C>A | CA500208010 | JUP | c.474G>T (p.Val158=) c.525G>T (p.Val175=) | gnomAD v4 |
| 17 | g.41769202C= | CA2260176002 | JUP | c.474G= (p.Val158=) c.525G= (p.Val175=) | |
| 17 | g.41769202C>G | CA500208011 | JUP | c.474G>C (p.Val158=) c.525G>C (p.Val175=) | |
| 17 | g.41769202C>T | CA8565462 | JUP | c.474G>A (p.Val158=) c.525G>A (p.Val175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769203A>C | CA399503681 | JUP | c.473T>G (p.Val158Gly) c.524T>G (p.Val175Gly) | |
| 17 | g.41769203A>G | CA399503677 | JUP | c.473T>C (p.Val158Ala) c.524T>C (p.Val175Ala) | gnomAD v4 |
| 17 | g.41769203A>T | CA399503660 | JUP | c.473T>A (p.Val158Glu) c.524T>A (p.Val175Glu) | |
| 17 | g.41769204C>A | CA399503683 | JUP | c.472G>T (p.Val158Leu) c.523G>T (p.Val175Leu) | |
| 17 | g.41769204C>G | CA399503685 | JUP | c.472G>C (p.Val158Leu) c.523G>C (p.Val175Leu) | |
| 17 | g.41769204C>T | CA399503688 | JUP | c.472G>A (p.Val158Met) c.523G>A (p.Val175Met) | |
| 17 | g.41769205C>A | CA500208014 | JUP | c.471G>T (p.Val157=) c.522G>T (p.Val174=) | |
| 17 | g.41769205C= | CA2260176003 | JUP | c.471G= (p.Val157=) c.522G= (p.Val174=) | |
| 17 | g.41769205C>G | CA8565463 | JUP | c.471G>C (p.Val157=) c.522G>C (p.Val174=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769205C>T | CA500208015 | JUP | c.471G>A (p.Val157=) c.522G>A (p.Val174=) | |
| 17 | g.41769206A>C | CA399503692 | JUP | c.470T>G (p.Val157Gly) c.521T>G (p.Val174Gly) | |
| 17 | g.41769206A>G | CA399503693 | JUP | c.470T>C (p.Val157Ala) c.521T>C (p.Val174Ala) | |
| 17 | g.41769206A>T | CA399503694 | JUP | c.470T>A (p.Val157Glu) c.521T>A (p.Val174Glu) | |
| 17 | g.41769207C>A | CA399503696 | JUP | c.469G>T (p.Val157Leu) c.520G>T (p.Val174Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769207C= | CA2260176004 | JUP | c.469G= (p.Val157=) c.520G= (p.Val174=) | |
| 17 | g.41769207C>G | CA399503698 | JUP | c.469G>C (p.Val157Leu) c.520G>C (p.Val174Leu) | |
| 17 | g.41769207C>T | CA399503701 | JUP | c.469G>A (p.Val157Met) c.520G>A (p.Val174Met) | |
| 17 | g.41769208C>A | CA399503704 | JUP | c.469-1G>T (n.469-1G>T) c.520-1G>T (n.520-1G>T) | |
| 17 | g.41769208C>G | CA399503706 | JUP | c.469-1G>C (n.469-1G>C) c.520-1G>C (n.520-1G>C) | |
| 17 | g.41769208C>T | CA399503709 | JUP | c.469-1G>A (n.469-1G>A) c.520-1G>A (n.520-1G>A) | |
| 17 | g.41769209_41769216del | CA2695225895 | JUP | c.469-8_469-1del (n.469-8_469-1del) c.520-8_520-1del (n.520-8_520-1del) | |
| 17 | g.41769209T>A | CA399503716 | JUP | c.469-2A>T (n.469-2A>T) c.520-2A>T (n.520-2A>T) | |
| 17 | g.41769209T>C | CA399503712 | JUP | c.469-2A>G (n.469-2A>G) c.520-2A>G (n.520-2A>G) | |
| 17 | g.41769209T>G | CA399503715 | JUP | c.469-2A>C (n.469-2A>C) c.520-2A>C (n.520-2A>C) | dbSNP |
| 17 | g.41769209T= | CA2260176005 | JUP | c.469-2A= (n.469-2A=) c.520-2A= (n.520-2A=) | |
| 17 | g.41769210G>A | CA2637859908 | JUP | c.469-3C>T (n.469-3C>T) c.520-3C>T (n.520-3C>T) | gnomAD v4 |
| 17 | g.41769210G>T | CA2809501735 | JUP | c.469-3C>A (n.469-3C>A) c.520-3C>A (n.520-3C>A) | |
| 17 | g.41769211G>A | CA290700648 | JUP | c.469-4C>T (n.469-4C>T) c.520-4C>T (n.520-4C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769211G= | CA2260176006 | JUP | c.469-4C= (n.469-4C=) c.520-4C= (n.520-4C=) | |
| 17 | g.41769213G>A | CA8565464 | JUP | c.469-6C>T (n.469-6C>T) c.520-6C>T (n.520-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769213G>C | CA772069951 | JUP | c.469-6C>G (n.469-6C>G) c.520-6C>G (n.520-6C>G) | dbSNP |
| 17 | g.41769213G= | CA2260176007 | JUP | c.469-6C= (n.469-6C=) c.520-6C= (n.520-6C=) | |
| 17 | g.41769213G>T | CA2637859910 | JUP | c.469-6C>A (n.469-6C>A) c.520-6C>A (n.520-6C>A) | gnomAD v4 |
| 17 | g.41769215dup | CA2637859909 | JUP | c.469-6dup (n.469-6dup) c.520-6dup (n.520-6dup) | gnomAD v4 |
| 17 | g.41769215G>A | CA626215927 | JUP | c.469-8C>T (n.469-8C>T) c.520-8C>T (n.520-8C>T) | dbSNP gnomAD v2 |
| 17 | g.41769215G= | CA2260176008 | JUP | c.469-8C= (n.469-8C=) c.520-8C= (n.520-8C=) | |
| 17 | g.41769215G>T | CA2637859911 | JUP | c.469-8C>A (n.469-8C>A) c.520-8C>A (n.520-8C>A) | gnomAD v4 |
| 17 | g.41769216C>A | CA2637859912 | JUP | c.469-9G>T (n.469-9G>T) c.520-9G>T (n.520-9G>T) | gnomAD v4 |
| 17 | g.41769216C>T | CA2637859913 | JUP | c.469-9G>A (n.469-9G>A) c.520-9G>A (n.520-9G>A) | gnomAD v4 |
| 17 | g.41769219del | CA2576268994 | JUP | c.469-10del (n.469-10del) c.520-10del (n.520-10del) | |
| 17 | g.41769219A= | CA2260176009 | JUP | c.469-12T= (n.469-12T=) c.520-12T= (n.520-12T=) | |
| 17 | g.41769219A>C | CA2637859914 | JUP | c.469-12T>G (n.469-12T>G) c.520-12T>G (n.520-12T>G) | gnomAD v4 |
| 17 | g.41769219A>G | CA8565465 | JUP | c.469-12T>C (n.469-12T>C) c.520-12T>C (n.520-12T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769221dup | CA2740090943 | JUP | c.469-13dup (n.469-13dup) c.520-13dup (n.520-13dup) | ClinVar |
| 17 | g.41769221G>A | CA2637859915 | JUP | c.469-14C>T (n.469-14C>T) c.520-14C>T (n.520-14C>T) | gnomAD v4 |
| 17 | g.41769222C>A | CA2637859917 | JUP | c.469-15G>T (n.469-15G>T) c.520-15G>T (n.520-15G>T) | gnomAD v4 |
| 17 | g.41769222C>T | CA2637859916 | JUP | c.469-15G>A (n.469-15G>A) c.520-15G>A (n.520-15G>A) | gnomAD v4 |
| 17 | g.41769222_41769223delinsCA | CA2260176010 | JUP | c.469-16_469-15delinsTG (n.469-16_469-15delinsTG) c.520-16_520-15delinsTG (n.520-16_520-15delinsTG) | |
| 17 | g.41769223del | CA8565466 | JUP | c.469-16del (n.469-16del) c.520-16del (n.520-16del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769224G>A | CA2637859918 | JUP | c.469-17C>T (n.469-17C>T) c.520-17C>T (n.520-17C>T) | gnomAD v4 |
| 17 | g.41769227del | CA399503721 | JUP | c.469-17del (n.469-17del) c.520-17del (n.520-17del) | |
| 17 | g.41769225G>A | CA2576268995 | JUP | c.469-18C>T (n.469-18C>T) c.520-18C>T (n.520-18C>T) | gnomAD v4 |
| 17 | g.41769226G>A | CA626215928 | JUP | c.469-19C>T (n.469-19C>T) c.520-19C>T (n.520-19C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769226G= | CA2260176011 | JUP | c.469-19C= (n.469-19C=) c.520-19C= (n.520-19C=) | |
| 17 | g.41769227G>T | CA2576268996 | JUP | c.469-20C>A (n.469-20C>A) c.520-20C>A (n.520-20C>A) | gnomAD v4 |
| 17 | g.41769228C= | CA2260176012 | JUP | c.469-21G= (n.469-21G=) c.520-21G= (n.520-21G=) | |
| 17 | g.41769228C>G | CA2576268997 | JUP | c.469-21G>C (n.469-21G>C) c.520-21G>C (n.520-21G>C) | |
| 17 | g.41769228C>T | CA8565467 | JUP | c.469-21G>A (n.469-21G>A) c.520-21G>A (n.520-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769229G>A | CA8565468 | JUP | c.469-22C>T (n.469-22C>T) c.520-22C>T (n.520-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769229G= | CA2260176014 | JUP | c.469-22C= (n.469-22C=) c.520-22C= (n.520-22C=) | |
| 17 | g.41769229G>T | CA2260176013 | JUP | c.469-22C>A (n.469-22C>A) c.520-22C>A (n.520-22C>A) | dbSNP gnomAD v4 |
| 17 | g.41769230G>T | CA2637859919 | JUP | c.469-23C>A (n.469-23C>A) c.520-23C>A (n.520-23C>A) | gnomAD v4 |
| 17 | g.41769231G>A | CA772069974 | JUP | c.469-24C>T (n.469-24C>T) c.520-24C>T (n.520-24C>T) | dbSNP |
| 17 | g.41769231G= | CA2260176015 | JUP | c.469-24C= (n.469-24C=) c.520-24C= (n.520-24C=) | |
| 17 | g.41769231G>T | CA2576268998 | JUP | c.469-24C>A (n.469-24C>A) c.520-24C>A (n.520-24C>A) | |
| 17 | g.41769232G>A | CA772069976 | JUP | c.469-25C>T (n.469-25C>T) c.520-25C>T (n.520-25C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769232G= | CA2260176016 | JUP | c.469-25C= (n.469-25C=) c.520-25C= (n.520-25C=) | |
| 17 | g.41769233A= | CA2260176017 | JUP | c.469-26T= (n.469-26T=) c.520-26T= (n.520-26T=) | |
| 17 | g.41769233A>G | CA2260176018 | JUP | c.469-26T>C (n.469-26T>C) c.520-26T>C (n.520-26T>C) | dbSNP |
| 17 | g.41769234C>A | CA2637859921 | JUP | c.469-27G>T (n.469-27G>T) c.520-27G>T (n.520-27G>T) | gnomAD v4 |
| 17 | g.41769234C= | CA2260176019 | JUP | c.469-27G= (n.469-27G=) c.520-27G= (n.520-27G=) | |
| 17 | g.41769234C>G | CA2637859922 | JUP | c.469-27G>C (n.469-27G>C) c.520-27G>C (n.520-27G>C) | gnomAD v4 |
| 17 | g.41769234C>T | CA8565469 | JUP | c.469-27G>A (n.469-27G>A) c.520-27G>A (n.520-27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769235G>A | CA626215929 | JUP | c.469-28C>T (n.469-28C>T) c.520-28C>T (n.520-28C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769235G= | CA2260176020 | JUP | c.469-28C= (n.469-28C=) c.520-28C= (n.520-28C=) | |
| 17 | g.41769236T>A | CA8565470 | JUP | c.469-29A>T (n.469-29A>T) c.520-29A>T (n.520-29A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769236T>C | CA772069982 | JUP | c.469-29A>G (n.469-29A>G) c.520-29A>G (n.520-29A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769236T>G | CA983789024 | JUP | c.469-29A>C (n.469-29A>C) c.520-29A>C (n.520-29A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769236T= | CA2260176021 | JUP | c.469-29A= (n.469-29A=) c.520-29A= (n.520-29A=) | |
| 17 | g.41769237G>A | CA8565471 | JUP | c.469-30C>T (n.469-30C>T) c.520-30C>T (n.520-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769237G>C | CA2637859923 | JUP | c.469-30C>G (n.469-30C>G) c.520-30C>G (n.520-30C>G) | gnomAD v4 |
| 17 | g.41769237G= | CA2260176022 | JUP | c.469-30C= (n.469-30C=) c.520-30C= (n.520-30C=) | |
| 17 | g.41769238A= | CA2260176023 | JUP | c.469-31T= (n.469-31T=) c.520-31T= (n.520-31T=) | |
| 17 | g.41769238A>G | CA8565472 | JUP | c.469-31T>C (n.469-31T>C) c.520-31T>C (n.520-31T>C) | dbSNP ExAC gnomAD v2 |
| 17 | g.41769239G>A | CA2637859924 | JUP | c.469-32C>T (n.469-32C>T) c.520-32C>T (n.520-32C>T) | gnomAD v4 |
| 17 | g.41769239G>T | CA2576268999 | JUP | c.469-32C>A (n.469-32C>A) c.520-32C>A (n.520-32C>A) | |
| 17 | g.41769240C>A | CA2499770262 | JUP | c.469-33G>T (n.469-33G>T) c.520-33G>T (n.520-33G>T) | |
| 17 | g.41769240C>T | CA2637859925 | JUP | c.469-33G>A (n.469-33G>A) c.520-33G>A (n.520-33G>A) | gnomAD v4 |
| 17 | g.41769241A= | CA2260176024 | JUP | c.469-34T= (n.469-34T=) c.520-34T= (n.520-34T=) | |
| 17 | g.41769241A>C | CA626215930 | JUP | c.469-34T>G (n.469-34T>G) c.520-34T>G (n.520-34T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769241A>G | CA2809501736 | JUP | c.469-34T>C (n.469-34T>C) c.520-34T>C (n.520-34T>C) | |
| 17 | g.41769241A>T | CA2637859926 | JUP | c.469-34T>A (n.469-34T>A) c.520-34T>A (n.520-34T>A) | gnomAD v4 |
| 17 | g.41769242C>A | CA772069988 | JUP | c.469-35G>T (n.469-35G>T) c.520-35G>T (n.520-35G>T) | dbSNP |
| 17 | g.41769242C= | CA2260176025 | JUP | c.469-35G= (n.469-35G=) c.520-35G= (n.520-35G=) | |
| 17 | g.41769242C>G | CA626215931 | JUP | c.469-35G>C (n.469-35G>C) c.520-35G>C (n.520-35G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769243T>A | CA2809501737 | JUP | c.469-36A>T (n.469-36A>T) c.520-36A>T (n.520-36A>T) | |
| 17 | g.41769243T>C | CA2637859927 | JUP | c.469-36A>G (n.469-36A>G) c.520-36A>G (n.520-36A>G) | gnomAD v4 |
| 17 | g.41769243_41769246delinsTAAG | CA2260176026 | JUP | c.469-39_469-36delinsCTTA (n.469-39_469-36delinsCTTA) c.520-39_520-36delinsCTTA (n.520-39_520-36delinsCTTA) | |
| 17 | g.41769244A= | CA2260176027 | JUP | c.469-37T= (n.469-37T=) c.520-37T= (n.520-37T=) | |
| 17 | g.41769244A>C | CA772069990 | JUP | c.469-37T>G (n.469-37T>G) c.520-37T>G (n.520-37T>G) | dbSNP |
| 17 | g.41769244A>G | CA290700670 | JUP | c.469-37T>C (n.469-37T>C) c.520-37T>C (n.520-37T>C) | dbSNP |
| 17 | g.41769244_41769246del | CA772069989 | JUP | c.469-39_469-37del (n.469-39_469-37del) c.520-39_520-37del (n.520-39_520-37del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769245_41769246insACAAACCAAACACACCCAACACA | CA2809501738 | JUP | c.469-38_469-37insGTGTTGGGTGTGTTTGGTTTGTT (n.469-38_469-37insGTGTTGGGTGTGTTTGGTTTGTT) c.520-38_520-37insGTGTTGGGTGTGTTTGGTTTGTT (n.520-38_520-37insGTGTTGGGTGTGTTTGGTTTGTT) | |
| 17 | g.41769246G>C | CA8565473 | JUP | c.469-39C>G (n.469-39C>G) c.520-39C>G (n.520-39C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769246G= | CA2260176028 | JUP | c.469-39C= (n.469-39C=) c.520-39C= (n.520-39C=) | |
| 17 | g.41769246G>T | CA2637859928 | JUP | c.469-39C>A (n.469-39C>A) c.520-39C>A (n.520-39C>A) | gnomAD v4 |
| 17 | g.41769247G>A | CA8565474 | JUP | c.469-40C>T (n.469-40C>T) c.520-40C>T (n.520-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769247G= | CA2260176029 | JUP | c.469-40C= (n.469-40C=) c.520-40C= (n.520-40C=) | |
| 17 | g.41769247G>T | CA2576269000 | JUP | c.469-40C>A (n.469-40C>A) c.520-40C>A (n.520-40C>A) | |
| 17 | g.41769248A= | CA2260176030 | JUP | c.469-41T= (n.469-41T=) c.520-41T= (n.520-41T=) | |
| 17 | g.41769248A>G | CA8565475 | JUP | c.469-41T>C (n.469-41T>C) c.520-41T>C (n.520-41T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769248A>T | CA626215932 | JUP | c.469-41T>A (n.469-41T>A) c.520-41T>A (n.520-41T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769249G>A | CA8565476 | JUP | c.469-42C>T (n.469-42C>T) c.520-42C>T (n.520-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769249G= | CA2260176031 | JUP | c.469-42C= (n.469-42C=) c.520-42C= (n.520-42C=) | |
| 17 | g.41769251G>A | CA626215933 | JUP | c.469-44C>T (n.469-44C>T) c.520-44C>T (n.520-44C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769251G>C | CA983789046 | JUP | c.469-44C>G (n.469-44C>G) c.520-44C>G (n.520-44C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769251G= | CA2260176032 | JUP | c.469-44C= (n.469-44C=) c.520-44C= (n.520-44C=) | |
| 17 | g.41769252G>A | CA2260176034 | JUP | c.469-45C>T (n.469-45C>T) c.520-45C>T (n.520-45C>T) | dbSNP gnomAD v4 |
| 17 | g.41769252G= | CA2260176033 | JUP | c.469-45C= (n.469-45C=) c.520-45C= (n.520-45C=) | |
| 17 | g.41769252G>T | CA2576269001 | JUP | c.469-45C>A (n.469-45C>A) c.520-45C>A (n.520-45C>A) | |
| 17 | g.41769253C= | CA2260176035 | JUP | c.469-46G= (n.469-46G=) c.520-46G= (n.520-46G=) | |
| 17 | g.41769253C>T | CA983789050 | JUP | c.469-46G>A (n.469-46G>A) c.520-46G>A (n.520-46G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769254C>A | CA656362540 | JUP | c.469-47G>T (n.469-47G>T) c.520-47G>T (n.520-47G>T) | COSMIC |
| 17 | g.41769254C= | CA2260176036 | JUP | c.469-47G= (n.469-47G=) c.520-47G= (n.520-47G=) | |
| 17 | g.41769254C>G | CA2733648402 | JUP | c.469-47G>C (n.469-47G>C) c.520-47G>C (n.520-47G>C) | dbSNP |
| 17 | g.41769254C>T | CA8565477 | JUP | c.469-47G>A (n.469-47G>A) c.520-47G>A (n.520-47G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769255G>A | CA8565478 | JUP | c.469-48C>T (n.469-48C>T) c.520-48C>T (n.520-48C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769255G= | CA2260176037 | JUP | c.469-48C= (n.469-48C=) c.520-48C= (n.520-48C=) | |
| 17 | g.41769256G>A | CA626215934 | JUP | c.469-49C>T (n.469-49C>T) c.520-49C>T (n.520-49C>T) | dbSNP gnomAD v2 |
| 17 | g.41769256G= | CA2260176038 | JUP | c.469-49C= (n.469-49C=) c.520-49C= (n.520-49C=) | |
| 17 | g.41769256G>T | CA2637859929 | JUP | c.469-49C>A (n.469-49C>A) c.520-49C>A (n.520-49C>A) | gnomAD v4 |
| 17 | g.41769257G>A | CA626215935 | JUP | c.469-50C>T (n.469-50C>T) c.520-50C>T (n.520-50C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769257G>C | CA8565479 | JUP | c.469-50C>G (n.469-50C>G) c.520-50C>G (n.520-50C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769257G= | CA2260176039 | JUP | c.469-50C= (n.469-50C=) c.520-50C= (n.520-50C=) | |
| 17 | g.41769259T>C | CA626215936 | JUP | c.469-52A>G (n.469-52A>G) c.520-52A>G (n.520-52A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769259T= | CA2260176040 | JUP | c.469-52A= (n.469-52A=) c.520-52A= (n.520-52A=) | |
| 17 | g.41769260A= | CA2260176041 | JUP | c.469-53T= (n.469-53T=) c.520-53T= (n.520-53T=) | |
| 17 | g.41769260A>C | CA626215937 | JUP | c.469-53T>G (n.469-53T>G) c.520-53T>G (n.520-53T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769260A>G | CA772070016 | JUP | c.469-53T>C (n.469-53T>C) c.520-53T>C (n.520-53T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769260A>T | CA2576269002 | JUP | c.469-53T>A (n.469-53T>A) c.520-53T>A (n.520-53T>A) | |
| 17 | g.41769261C>A | CA2637859930 | JUP | c.469-54G>T (n.469-54G>T) c.520-54G>T (n.520-54G>T) | gnomAD v4 |
| 17 | g.41769261C>T | CA2733740193 | JUP | c.469-54G>A (n.469-54G>A) c.520-54G>A (n.520-54G>A) | dbSNP |
| 17 | g.41769263C>A | CA2637859932 | JUP | c.469-56G>T (n.469-56G>T) c.520-56G>T (n.520-56G>T) | gnomAD v4 |
| 17 | g.41769263C>T | CA2637859931 | JUP | c.469-56G>A (n.469-56G>A) c.520-56G>A (n.520-56G>A) | gnomAD v4 |
| 17 | g.41769264T>A | CA983789067 | JUP | c.469-57A>T (n.469-57A>T) c.520-57A>T (n.520-57A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769264T= | CA2260176042 | JUP | c.469-57A= (n.469-57A=) c.520-57A= (n.520-57A=) | |
| 17 | g.41769265T>C | CA2733740201 | JUP | c.469-58A>G (n.469-58A>G) c.520-58A>G (n.520-58A>G) | dbSNP |
| 17 | g.41769266C>T | CA2733740232 | JUP | c.469-59G>A (n.469-59G>A) c.520-59G>A (n.520-59G>A) | dbSNP |
| 17 | g.41769267_41769269del | CA2637859933 | JUP | c.469-61_469-59del (n.469-61_469-59del) c.520-61_520-59del (n.520-61_520-59del) | gnomAD v4 |
| 17 | g.41769269C>A | CA2637859934 | JUP | c.469-62G>T (n.469-62G>T) c.520-62G>T (n.520-62G>T) | gnomAD v4 |
| 17 | g.41769270A= | CA2260176043 | JUP | c.469-63T= (n.469-63T=) c.520-63T= (n.520-63T=) | |
| 17 | g.41769270A>G | CA290700684 | JUP | c.469-63T>C (n.469-63T>C) c.520-63T>C (n.520-63T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769271G>A | CA2637859935 | JUP | c.469-64C>T (n.469-64C>T) c.520-64C>T (n.520-64C>T) | gnomAD v4 |
| 17 | g.41769272A>G | CA2637859936 | JUP | c.469-65T>C (n.469-65T>C) c.520-65T>C (n.520-65T>C) | gnomAD v4 |
| 17 | g.41769273G>A | CA2637859937 | JUP | c.469-66C>T (n.469-66C>T) c.520-66C>T (n.520-66C>T) | gnomAD v4 |
| 17 | g.41769273G>C | CA772070019 | JUP | c.469-66C>G (n.469-66C>G) c.520-66C>G (n.520-66C>G) | dbSNP |
| 17 | g.41769273G= | CA2260176044 | JUP | c.469-66C= (n.469-66C=) c.520-66C= (n.520-66C=) | |
| 17 | g.41769273G>T | CA2637859938 | JUP | c.469-66C>A (n.469-66C>A) c.520-66C>A (n.520-66C>A) | gnomAD v4 |
| 17 | g.41769274C>G | CA2576269003 | JUP | c.469-67G>C (n.469-67G>C) c.520-67G>C (n.520-67G>C) | |
| 17 | g.41769275T>C | CA983789069 | JUP | c.469-68A>G (n.469-68A>G) c.520-68A>G (n.520-68A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769275T>G | CA2260176045 | JUP | c.469-68A>C (n.469-68A>C) c.520-68A>C (n.520-68A>C) | dbSNP |
| 17 | g.41769275T= | CA2260176046 | JUP | c.469-68A= (n.469-68A=) c.520-68A= (n.520-68A=) | |
| 17 | g.41769275_41769276dup | CA2809501739 | JUP | c.469-69_469-68dup (n.469-69_469-68dup) c.520-69_520-68dup (n.520-69_520-68dup) | |
| 17 | g.41769276G>A | CA772070024 | JUP | c.469-69C>T (n.469-69C>T) c.520-69C>T (n.520-69C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769276G>C | CA2637859939 | JUP | c.469-69C>G (n.469-69C>G) c.520-69C>G (n.520-69C>G) | gnomAD v4 |
| 17 | g.41769276G= | CA2260176047 | JUP | c.469-69C= (n.469-69C=) c.520-69C= (n.520-69C=) | |
| 17 | g.41769279_41769289dup | CA772070038 | JUP | c.469-80_469-70dup (n.469-80_469-70dup) c.520-80_520-70dup (n.520-80_520-70dup) | dbSNP gnomAD v4 |
| 17 | g.41769278G>A | CA290700693 | JUP | c.469-71C>T (n.469-71C>T) c.520-71C>T (n.520-71C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769278G>C | CA2637859940 | JUP | c.469-71C>G (n.469-71C>G) c.520-71C>G (n.520-71C>G) | gnomAD v4 |
| 17 | g.41769278G= | CA2260176048 | JUP | c.469-71C= (n.469-71C=) c.520-71C= (n.520-71C=) | |
| 17 | g.41769279G>A | CA290700697 | JUP | c.469-72C>T (n.469-72C>T) c.520-72C>T (n.520-72C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769279G= | CA2260176049 | JUP | c.469-72C= (n.469-72C=) c.520-72C= (n.520-72C=) | |
| 17 | g.41769281G>A | CA772070043 | JUP | c.469-74C>T (n.469-74C>T) c.520-74C>T (n.520-74C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769281G>C | CA2576269004 | JUP | c.469-74C>G (n.469-74C>G) c.520-74C>G (n.520-74C>G) | |
| 17 | g.41769281G= | CA2260176050 | JUP | c.469-74C= (n.469-74C=) c.520-74C= (n.520-74C=) | |
| 17 | g.41769281G>T | CA2260176051 | JUP | c.469-74C>A (n.469-74C>A) c.520-74C>A (n.520-74C>A) | dbSNP |
| 17 | g.41769283G>A | CA772070047 | JUP | c.469-76C>T (n.469-76C>T) c.520-76C>T (n.520-76C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769283G= | CA2260176052 | JUP | c.469-76C= (n.469-76C=) c.520-76C= (n.520-76C=) | |
| 17 | g.41769283G>T | CA2637859941 | JUP | c.469-76C>A (n.469-76C>A) c.520-76C>A (n.520-76C>A) | gnomAD v4 |
| 17 | g.41769283_41769284insAGGTTATGA | CA2809501740 | JUP | c.469-77_469-76insTCATAACCT (n.469-77_469-76insTCATAACCT) c.520-77_520-76insTCATAACCT (n.520-77_520-76insTCATAACCT) | |
| 17 | g.41769284C>A | CA2637859942 | JUP | c.469-77G>T (n.469-77G>T) c.520-77G>T (n.520-77G>T) | gnomAD v4 |
| 17 | g.41769284C= | CA2260176053 | JUP | c.469-77G= (n.469-77G=) c.520-77G= (n.520-77G=) | |
| 17 | g.41769284C>T | CA2260176054 | JUP | c.469-77G>A (n.469-77G>A) c.520-77G>A (n.520-77G>A) | dbSNP |
| 17 | g.41769287del | CA2576269005 | JUP | c.469-77del (n.469-77del) c.520-77del (n.520-77del) | |
| 17 | g.41769285C>A | CA2576269006 | JUP | c.469-78G>T (n.469-78G>T) c.520-78G>T (n.520-78G>T) | |
| 17 | g.41769285C= | CA2260176055 | JUP | c.469-78G= (n.469-78G=) c.520-78G= (n.520-78G=) | |
| 17 | g.41769285C>T | CA772070048 | JUP | c.469-78G>A (n.469-78G>A) c.520-78G>A (n.520-78G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769286C>A | CA2576269007 | JUP | c.469-79G>T (n.469-79G>T) c.520-79G>T (n.520-79G>T) | |
| 17 | g.41769286C>T | CA2637859943 | JUP | c.469-79G>A (n.469-79G>A) c.520-79G>A (n.520-79G>A) | gnomAD v4 |
| 17 | g.41769287C= | CA2260176056 | JUP | c.469-80G= (n.469-80G=) c.520-80G= (n.520-80G=) | |
| 17 | g.41769287C>T | CA772070049 | JUP | c.469-80G>A (n.469-80G>A) c.520-80G>A (n.520-80G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769288A>G | CA2637859944 | JUP | c.469-81T>C (n.469-81T>C) c.520-81T>C (n.520-81T>C) | gnomAD v4 |
| 17 | g.41769288A>T | CA2637859945 | JUP | c.469-81T>A (n.469-81T>A) c.520-81T>A (n.520-81T>A) | gnomAD v4 |