| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41771638G>A | CA2637860457 | JUP | c.208+9C>T (n.208+9C>T) n.345C>T c.259+9C>T (n.259+9C>T) | gnomAD v4 |
| 17 | g.41771639G>A | CA2637860458 | JUP | c.208+8C>T (n.208+8C>T) n.344C>T c.259+8C>T (n.259+8C>T) | gnomAD v4 |
| 17 | g.41771639G>T | CA2637860459 | JUP | c.208+8C>A (n.208+8C>A) n.344C>A c.259+8C>A (n.259+8C>A) | gnomAD v4 |
| 17 | g.41771641C>A | CA2637860460 | JUP | c.208+6G>T (n.208+6G>T) n.342G>T c.259+6G>T (n.259+6G>T) | gnomAD v4 |
| 17 | g.41771641C>T | CA2733740906 | JUP | c.208+6G>A (n.208+6G>A) n.342G>A c.259+6G>A (n.259+6G>A) | dbSNP |
| 17 | g.41771643T>C | CA2260177229 | JUP | c.208+4A>G (n.208+4A>G) n.340A>G c.259+4A>G (n.259+4A>G) | dbSNP |
| 17 | g.41771643T= | CA2260177228 | JUP | c.208+4A= (n.208+4A=) n.340A= c.259+4A= (n.259+4A=) | |
| 17 | g.41771644G>A | CA2637860461 | JUP | c.208+3C>T (n.208+3C>T) n.339C>T c.259+3C>T (n.259+3C>T) | gnomAD v4 |
| 17 | g.41771645A>C | CA399506475 | JUP | c.208+2T>G (n.208+2T>G) n.338T>G c.259+2T>G (n.259+2T>G) | |
| 17 | g.41771645A>G | CA399506480 | JUP | c.208+2T>C (n.208+2T>C) n.338T>C c.259+2T>C (n.259+2T>C) | |
| 17 | g.41771645A>T | CA399506477 | JUP | c.208+2T>A (n.208+2T>A) n.338T>A c.259+2T>A (n.259+2T>A) | |
| 17 | g.41771646C>A | CA399506484 | JUP | c.208+1G>T (n.208+1G>T) n.337G>T c.259+1G>T (n.259+1G>T) | |
| 17 | g.41771646C= | CA2260177230 | JUP | c.208+1G= (n.208+1G=) n.337G= c.259+1G= (n.259+1G=) | |
| 17 | g.41771646C>G | CA399506486 | JUP | c.208+1G>C (n.208+1G>C) n.337G>C c.259+1G>C (n.259+1G>C) | |
| 17 | g.41771646C>T | CA8565561 | JUP | c.208+1G>A (n.208+1G>A) n.337G>A c.259+1G>A (n.259+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771647C>A | CA399506492 | JUP | c.208G>T (p.Gly70Cys) n.336G>T c.259G>T (p.Gly87Cys) | |
| 17 | g.41771647C>G | CA399506494 | JUP | c.208G>C (p.Gly70Arg) n.336G>C c.259G>C (p.Gly87Arg) | |
| 17 | g.41771647C>T | CA399506497 | JUP | c.208G>A (p.Gly70Ser) n.336G>A c.259G>A (p.Gly87Ser) | gnomAD v4 |
| 17 | g.41771648T>A | CA399506499 | JUP | c.207A>T (p.Gln69His) n.335A>T c.258A>T (p.Gln86His) | |
| 17 | g.41771648T>C | CA500025640 | JUP | c.207A>G (p.Gln69=) n.335A>G c.258A>G (p.Gln86=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41771648T>G | CA399506502 | JUP | c.207A>C (p.Gln69His) n.335A>C c.258A>C (p.Gln86His) | |
| 17 | g.41771648T= | CA2260177231 | JUP | c.207A= (p.Gln69=) n.335A= c.258A= (p.Gln86=) | |
| 17 | g.41771649T>A | CA399506504 | JUP | c.206A>T (p.Gln69Leu) n.334A>T c.257A>T (p.Gln86Leu) | |
| 17 | g.41771649T>C | CA399506506 | JUP | c.206A>G (p.Gln69Arg) n.334A>G c.257A>G (p.Gln86Arg) | gnomAD v4 |
| 17 | g.41771649T>G | CA399506508 | JUP | c.206A>C (p.Gln69Pro) n.334A>C c.257A>C (p.Gln86Pro) | |
| 17 | g.41771650G>A | CA399506519 | JUP | c.205C>T (p.Gln69Ter) n.333C>T c.256C>T (p.Gln86Ter) | |
| 17 | g.41771650G>C | CA399506516 | JUP | c.205C>G (p.Gln69Glu) n.333C>G c.256C>G (p.Gln86Glu) | |
| 17 | g.41771650G>T | CA399506512 | JUP | c.205C>A (p.Gln69Lys) n.333C>A c.256C>A (p.Gln86Lys) | |
| 17 | g.41771651G>A | CA500025648 | JUP | c.204C>T (p.Ser68=) n.332C>T c.255C>T (p.Ser85=) | |
| 17 | g.41771651G>C | CA399506521 | JUP | c.204C>G (p.Ser68Arg) n.332C>G c.255C>G (p.Ser85Arg) | |
| 17 | g.41771651G>T | CA399506524 | JUP | c.204C>A (p.Ser68Arg) n.332C>A c.255C>A (p.Ser85Arg) | gnomAD v4 |
| 17 | g.41771652C>A | CA399506530 | JUP | c.203G>T (p.Ser68Ile) n.331G>T c.254G>T (p.Ser85Ile) | |
| 17 | g.41771652C= | CA2260177232 | JUP | c.203G= (p.Ser68=) n.331G= c.254G= (p.Ser85=) | |
| 17 | g.41771652C>G | CA399506533 | JUP | c.203G>C (p.Ser68Thr) n.331G>C c.254G>C (p.Ser85Thr) | gnomAD v4 |
| 17 | g.41771652C>T | CA399506537 | JUP | c.203G>A (p.Ser68Asn) n.331G>A c.254G>A (p.Ser85Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41771653T>A | CA399506539 | JUP | c.202A>T (p.Ser68Cys) n.330A>T c.253A>T (p.Ser85Cys) | |
| 17 | g.41771653T>C | CA399506541 | JUP | c.202A>G (p.Ser68Gly) n.330A>G c.253A>G (p.Ser85Gly) | |
| 17 | g.41771653T>G | CA399506542 | JUP | c.202A>C (p.Ser68Arg) n.330A>C c.253A>C (p.Ser85Arg) | |
| 17 | g.41771653T= | CA2260177233 | JUP | c.202A= (p.Ser68=) n.330A= c.253A= (p.Ser85=) | |
| 17 | g.41771654G>A | CA8565562 | JUP | c.201C>T (p.Pro67=) n.329C>T c.252C>T (p.Pro84=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41771654G>C | CA500025655 | JUP | c.201C>G (p.Pro67=) n.329C>G c.252C>G (p.Pro84=) | |
| 17 | g.41771654G= | CA2260177234 | JUP | c.201C= (p.Pro67=) n.329C= c.252C= (p.Pro84=) | |
| 17 | g.41771654G>T | CA500025657 | JUP | c.201C>A (p.Pro67=) n.329C>A c.252C>A (p.Pro84=) | gnomAD v4 |
| 17 | g.41771659dup | CA626216164 | JUP | c.201dup (p.Ser68GlnfsTer4) n.329dup c.252dup (p.Ser85GlnfsTer4) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.41771659del | CA2576269042 | JUP | c.201del (p.Ser68AlafsTer?) n.329del c.252del (p.Ser85AlafsTer?) | |
| 17 | g.41771655G>A | CA399506547 | JUP | c.200C>T (p.Pro67Leu) n.328C>T c.251C>T (p.Pro84Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41771655G>C | CA399506549 | JUP | c.200C>G (p.Pro67Arg) n.328C>G c.251C>G (p.Pro84Arg) | |
| 17 | g.41771655G= | CA2260177235 | JUP | c.200C= (p.Pro67=) n.328C= c.251C= (p.Pro84=) | |
| 17 | g.41771655G>T | CA399506552 | JUP | c.200C>A (p.Pro67His) n.328C>A c.251C>A (p.Pro84His) | |
| 17 | g.41771656G>A | CA399506559 | JUP | c.199C>T (p.Pro67Ser) n.327C>T c.250C>T (p.Pro84Ser) | gnomAD v4 COSMIC |