Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41758746T>A | CA290696239 | JUP | c.1622A>T (p.His541Leu) n.220A>T c.1673A>T (p.His558Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.41758746T>C | CA399493604 | JUP | c.1622A>G (p.His541Arg) n.220A>G c.1673A>G (p.His558Arg) | |
17 | g.41758746T>G | CA8565180 | JUP | c.1622A>C (p.His541Pro) n.220A>C c.1673A>C (p.His558Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41758746T= | CA2260170941 | JUP | c.1622A= (p.His541=) n.220A= c.1673A= (p.His558=) | |
17 | g.41758747G>A | CA399493610 | JUP | c.1621C>T (p.His541Tyr) n.219C>T c.1672C>T (p.His558Tyr) | |
17 | g.41758747G>C | CA399493614 | JUP | c.1621C>G (p.His541Asp) n.219C>G c.1672C>G (p.His558Asp) | |
17 | g.41758747G>T | CA399493613 | JUP | c.1621C>A (p.His541Asn) n.219C>A c.1672C>A (p.His558Asn) | |
17 | g.41758748G>A | CA500023083 | JUP | c.1620C>T (p.Arg540=) n.218C>T c.1671C>T (p.Arg557=) | |
17 | g.41758748G>C | CA500023081 | JUP | c.1620C>G (p.Arg540=) n.218C>G c.1671C>G (p.Arg557=) | |
17 | g.41758748G>T | CA500023082 | JUP | c.1620C>A (p.Arg540=) n.218C>A c.1671C>A (p.Arg557=) | gnomAD v4 |
17 | g.41758749C>A | CA399493616 | JUP | c.1619G>T (p.Arg540Leu) n.217G>T c.1670G>T (p.Arg557Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41758749C= | CA2260170942 | JUP | c.1619G= (p.Arg540=) n.217G= c.1670G= (p.Arg557=) | |
17 | g.41758749C>G | CA399493619 | JUP | c.1619G>C (p.Arg540Pro) n.217G>C c.1670G>C (p.Arg557Pro) | |
17 | g.41758749C>T | CA8565181 | JUP | c.1619G>A (p.Arg540His) n.217G>A c.1670G>A (p.Arg557His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41758750G>A | CA8565182 | JUP | c.1618C>T (p.Arg540Cys) n.216C>T c.1669C>T (p.Arg557Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.41758750G>C | CA399493620 | JUP | c.1618C>G (p.Arg540Gly) n.216C>G c.1669C>G (p.Arg557Gly) | |
17 | g.41758750G= | CA2260170943 | JUP | c.1618C= (p.Arg540=) n.216C= c.1669C= (p.Arg557=) | |
17 | g.41758750G>T | CA290696241 | JUP | c.1618C>A (p.Arg540Ser) n.216C>A c.1669C>A (p.Arg557Ser) | dbSNP gnomAD v4 |
17 | g.41758751C>A | CA399493624 | JUP | c.1617G>T (p.Gln539His) n.215G>T c.1668G>T (p.Gln556His) | |
17 | g.41758751C= | CA2260170944 | JUP | c.1617G= (p.Gln539=) n.215G= c.1668G= (p.Gln556=) | |
17 | g.41758751C>G | CA399493626 | JUP | c.1617G>C (p.Gln539His) n.215G>C c.1668G>C (p.Gln556His) | |
17 | g.41758751C>T | CA290696244 | JUP | c.1617G>A (p.Gln539=) n.215G>A c.1668G>A (p.Gln556=) | ClinVar dbSNP gnomAD v4 |
17 | g.41758752T>A | CA399493628 | JUP | c.1616A>T (p.Gln539Leu) n.214A>T c.1667A>T (p.Gln556Leu) | |
17 | g.41758752T>C | CA399493630 | JUP | c.1616A>G (p.Gln539Arg) n.214A>G c.1667A>G (p.Gln556Arg) | |
17 | g.41758752T>G | CA399493632 | JUP | c.1616A>C (p.Gln539Pro) n.214A>C c.1667A>C (p.Gln556Pro) | |
17 | g.41758753G>A | CA207164 | JUP | c.1615C>T (p.Gln539Ter) n.213C>T c.1666C>T (p.Gln556Ter) | ClinVar dbSNP gnomAD v2 |
17 | g.41758753G>C | CA399493638 | JUP | c.1615C>G (p.Gln539Glu) n.213C>G c.1666C>G (p.Gln556Glu) | |
17 | g.41758753G= | CA2260170945 | JUP | c.1615C= (p.Gln539=) n.213C= c.1666C= (p.Gln556=) | |
17 | g.41758753G>T | CA399493636 | JUP | c.1615C>A (p.Gln539Lys) n.213C>A c.1666C>A (p.Gln556Lys) | gnomAD v4 |
17 | g.41758755del | CA2637859907 | JUP | c.1615del (p.Gln539SerfsTer4) n.213del c.1666del (p.Gln556SerfsTer4) | gnomAD v4 |
17 | g.41758754G>A | CA500023084 | JUP | c.1614C>T (p.Ala538=) n.212C>T c.1665C>T (p.Ala555=) | |
17 | g.41758754G>C | CA500023085 | JUP | c.1614C>G (p.Ala538=) n.212C>G c.1665C>G (p.Ala555=) | |
17 | g.41758754G>T | CA500023086 | JUP | c.1614C>A (p.Ala538=) n.212C>A c.1665C>A (p.Ala555=) | |
17 | g.41758755G>A | CA399493641 | JUP | c.1613C>T (p.Ala538Val) n.211C>T c.1664C>T (p.Ala555Val) | |
17 | g.41758755G>C | CA399493643 | JUP | c.1613C>G (p.Ala538Gly) n.211C>G c.1664C>G (p.Ala555Gly) | gnomAD v4 |
17 | g.41758755G>T | CA399493646 | JUP | c.1613C>A (p.Ala538Asp) n.211C>A c.1664C>A (p.Ala555Asp) | |
17 | g.41758756C>A | CA399493649 | JUP | c.1612G>T (p.Ala538Ser) n.210G>T c.1663G>T (p.Ala555Ser) | |
17 | g.41758756C>G | CA399493652 | JUP | c.1612G>C (p.Ala538Pro) n.210G>C c.1663G>C (p.Ala555Pro) | |
17 | g.41758756C>T | CA399493654 | JUP | c.1612G>A (p.Ala538Thr) n.210G>A c.1663G>A (p.Ala555Thr) | |
17 | g.41758757A>C | CA399493657 | JUP | c.1611T>G (p.Asp537Glu) n.209T>G c.1662T>G (p.Asp554Glu) | |
17 | g.41758757A>G | CA500023087 | JUP | c.1611T>C (p.Asp537=) n.209T>C c.1662T>C (p.Asp554=) | |
17 | g.41758757A>T | CA399493661 | JUP | c.1611T>A (p.Asp537Glu) n.209T>A c.1662T>A (p.Asp554Glu) | |
17 | g.41758758T>A | CA399493663 | JUP | c.1610A>T (p.Asp537Val) n.208A>T c.1661A>T (p.Asp554Val) | dbSNP |
17 | g.41758758T>C | CA399493665 | JUP | c.1610A>G (p.Asp537Gly) n.208A>G c.1661A>G (p.Asp554Gly) | |
17 | g.41758758T>G | CA399493669 | JUP | c.1610A>C (p.Asp537Ala) n.208A>C c.1661A>C (p.Asp554Ala) | |
17 | g.41758758T= | CA2260170946 | JUP | c.1610A= (p.Asp537=) n.208A= c.1661A= (p.Asp554=) | |
17 | g.41758759C>A | CA399493678 | JUP | c.1609G>T (p.Asp537Tyr) n.207G>T c.1660G>T (p.Asp554Tyr) | |
17 | g.41758759C>G | CA399493675 | JUP | c.1609G>C (p.Asp537His) n.207G>C c.1660G>C (p.Asp554His) | |
17 | g.41758759C>T | CA399493673 | JUP | c.1609G>A (p.Asp537Asn) n.207G>A c.1660G>A (p.Asp554Asn) | |
17 | g.41758760C>A | CA399493679 | JUP | c.1608G>T (p.Gln536His) n.206G>T c.1659G>T (p.Gln553His) | COSMIC |