| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41767439C>A | CA308571 | JUP | c.849G>T (p.Lys283Asn) c.900G>T (p.Lys300Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767439C= | CA2260175153 | JUP | c.849G= (p.Lys283=) c.900G= (p.Lys300=) | dbSNP |
| 17 | g.41767439C>G | CA399500886 | JUP | c.849G>C (p.Lys283Asn) c.900G>C (p.Lys300Asn) | dbSNP |
| 17 | g.41767439C>T | CA500024500 | JUP | c.849G>A (p.Lys283=) c.900G>A (p.Lys300=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767440T>A | CA399500888 | JUP | c.848A>T (p.Lys283Met) c.899A>T (p.Lys300Met) | |
| 17 | g.41767440T>C | CA399500890 | JUP | c.848A>G (p.Lys283Arg) c.899A>G (p.Lys300Arg) | |
| 17 | g.41767440T>G | CA399500892 | JUP | c.848A>C (p.Lys283Thr) c.899A>C (p.Lys300Thr) | |
| 17 | g.41767441T>A | CA399500897 | JUP | c.847A>T (p.Lys283Ter) c.898A>T (p.Lys300Ter) | |
| 17 | g.41767441T>C | CA399500899 | JUP | c.847A>G (p.Lys283Glu) c.898A>G (p.Lys300Glu) | |
| 17 | g.41767441T>G | CA399500895 | JUP | c.847A>C (p.Lys283Gln) c.898A>C (p.Lys300Gln) | |
| 17 | g.41767442G>A | CA8565371 | JUP | c.846C>T (p.Pro282=) c.897C>T (p.Pro299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767442G>C | CA500024509 | JUP | c.846C>G (p.Pro282=) c.897C>G (p.Pro299=) | |
| 17 | g.41767442G= | CA2260175154 | JUP | c.846C= (p.Pro282=) c.897C= (p.Pro299=) | dbSNP |
| 17 | g.41767442G>T | CA500024507 | JUP | c.846C>A (p.Pro282=) c.897C>A (p.Pro299=) | |
| 17 | g.41767445del | CA2964201702 | JUP | c.846del (p.Lys283SerfsTer22) c.846del (p.Lys283SerfsTer?) c.897del (p.Lys300SerfsTer22) | |
| 17 | g.41767443G>A | CA399500900 | JUP | c.845C>T (p.Pro282Leu) c.896C>T (p.Pro299Leu) | |
| 17 | g.41767443G>C | CA399500901 | JUP | c.845C>G (p.Pro282Arg) c.896C>G (p.Pro299Arg) | |
| 17 | g.41767443G>T | CA399500902 | JUP | c.845C>A (p.Pro282His) c.896C>A (p.Pro299His) | |
| 17 | g.41767444G>A | CA399500903 | JUP | c.844C>T (p.Pro282Ser) c.895C>T (p.Pro299Ser) | |
| 17 | g.41767444G>C | CA399500904 | JUP | c.844C>G (p.Pro282Ala) c.895C>G (p.Pro299Ala) | |
| 17 | g.41767444G= | CA2260175155 | JUP | c.844C= (p.Pro282=) c.895C= (p.Pro299=) | dbSNP |
| 17 | g.41767444G>T | CA290700010 | JUP | c.844C>A (p.Pro282Thr) c.895C>A (p.Pro299Thr) | dbSNP |
| 17 | g.41767445G>A | CA500024515 | JUP | c.843C>T (p.Asn281=) c.894C>T (p.Asn298=) | |
| 17 | g.41767445G>C | CA399500909 | JUP | c.843C>G (p.Asn281Lys) c.894C>G (p.Asn298Lys) | |
| 17 | g.41767445G>T | CA399500910 | JUP | c.843C>A (p.Asn281Lys) c.894C>A (p.Asn298Lys) | |
| 17 | g.41767446T>A | CA399500912 | JUP | c.842A>T (p.Asn281Ile) c.893A>T (p.Asn298Ile) | |
| 17 | g.41767446T>C | CA8565372 | JUP | c.842A>G (p.Asn281Ser) c.893A>G (p.Asn298Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767446T>G | CA399500914 | JUP | c.842A>C (p.Asn281Thr) c.893A>C (p.Asn298Thr) | |
| 17 | g.41767446T= | CA2260175156 | JUP | c.842A= (p.Asn281=) c.893A= (p.Asn298=) | dbSNP |
| 17 | g.41767447T>A | CA399500919 | JUP | c.841A>T (p.Asn281Tyr) c.892A>T (p.Asn298Tyr) | |
| 17 | g.41767447T>C | CA399500924 | JUP | c.841A>G (p.Asn281Asp) c.892A>G (p.Asn298Asp) | |
| 17 | g.41767447T>G | CA399500917 | JUP | c.841A>C (p.Asn281His) c.892A>C (p.Asn298His) | |
| 17 | g.41767448G>A | CA500024518 | JUP | c.840C>T (p.Asn280=) c.891C>T (p.Asn297=) | |
| 17 | g.41767448G>C | CA399500926 | JUP | c.840C>G (p.Asn280Lys) c.891C>G (p.Asn297Lys) | |
| 17 | g.41767448G>T | CA399500929 | JUP | c.840C>A (p.Asn280Lys) c.891C>A (p.Asn297Lys) | |
| 17 | g.41767449T>A | CA399500932 | JUP | c.839A>T (p.Asn280Ile) c.890A>T (p.Asn297Ile) | |
| 17 | g.41767449T>C | CA399500933 | JUP | c.839A>G (p.Asn280Ser) c.890A>G (p.Asn297Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767449T>G | CA399500935 | JUP | c.839A>C (p.Asn280Thr) c.890A>C (p.Asn297Thr) | |
| 17 | g.41767449T= | CA3228179734 | JUP | c.839A= (p.Asn280=) c.890A= (p.Asn297=) | dbSNP |
| 17 | g.41767450T>A | CA399500947 | JUP | c.838A>T (p.Asn280Tyr) c.889A>T (p.Asn297Tyr) | |
| 17 | g.41767450T>C | CA399500938 | JUP | c.838A>G (p.Asn280Asp) c.889A>G (p.Asn297Asp) | |
| 17 | g.41767450T>G | CA399500944 | JUP | c.838A>C (p.Asn280His) c.889A>C (p.Asn297His) | |
| 17 | g.41767451C>A | CA399500951 | JUP | c.837G>T (p.Lys279Asn) c.888G>T (p.Lys296Asn) | |
| 17 | g.41767451C>G | CA399500954 | JUP | c.837G>C (p.Lys279Asn) c.888G>C (p.Lys296Asn) | |
| 17 | g.41767451C>T | CA500024519 | JUP | c.837G>A (p.Lys279=) c.888G>A (p.Lys296=) | |
| 17 | g.41767452T>A | CA399500956 | JUP | c.836A>T (p.Lys279Met) c.887A>T (p.Lys296Met) | |
| 17 | g.41767452T>C | CA399500959 | JUP | c.836A>G (p.Lys279Arg) c.887A>G (p.Lys296Arg) | |
| 17 | g.41767452T>G | CA399500961 | JUP | c.836A>C (p.Lys279Thr) c.887A>C (p.Lys296Thr) | |
| 17 | g.41767455_41767457del | CA2576268951 | JUP | c.834_836del (p.Asn278del) c.885_887del (p.Asn295del) | |
| 17 | g.41767453T>A | CA399500970 | JUP | c.835A>T (p.Lys279Ter) c.886A>T (p.Lys296Ter) |