| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41769480C>A | CA399505019 | JUP | c.406G>T (p.Asp136Tyr) c.457G>T (p.Asp153Tyr) | ClinVar dbSNP |
| 17 | g.41769480C= | CA2260176160 | JUP | c.406G= (p.Asp136=) c.457G= (p.Asp153=) | |
| 17 | g.41769480C>G | CA308456 | JUP | c.406G>C (p.Asp136His) c.457G>C (p.Asp153His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769480C>T | CA8565505 | JUP | c.406G>A (p.Asp136Asn) c.457G>A (p.Asp153Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769481G>A | CA137208 | JUP | c.405C>T (p.Asp135=) c.456C>T (p.Asp152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769481G>C | CA399505023 | JUP | c.405C>G (p.Asp135Glu) c.456C>G (p.Asp152Glu) | |
| 17 | g.41769481G= | CA2260176161 | JUP | c.405C= (p.Asp135=) c.456C= (p.Asp152=) | |
| 17 | g.41769481G>T | CA399505025 | JUP | c.405C>A (p.Asp135Glu) c.456C>A (p.Asp152Glu) | gnomAD v4 |
| 17 | g.41769482T>A | CA399505027 | JUP | c.404A>T (p.Asp135Val) c.455A>T (p.Asp152Val) | |
| 17 | g.41769482T>C | CA399505030 | JUP | c.404A>G (p.Asp135Gly) c.455A>G (p.Asp152Gly) | |
| 17 | g.41769482T>G | CA399505029 | JUP | c.404A>C (p.Asp135Ala) c.455A>C (p.Asp152Ala) | |
| 17 | g.41769483C>A | CA399505031 | JUP | c.403G>T (p.Asp135Tyr) c.454G>T (p.Asp152Tyr) | |
| 17 | g.41769483C= | CA2260176162 | JUP | c.403G= (p.Asp135=) c.454G= (p.Asp152=) | |
| 17 | g.41769483C>G | CA399505033 | JUP | c.403G>C (p.Asp135His) c.454G>C (p.Asp152His) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769483C>T | CA399505042 | JUP | c.403G>A (p.Asp135Asn) c.454G>A (p.Asp152Asn) | dbSNP gnomAD v2 |
| 17 | g.41769484C>A | CA399505044 | JUP | c.402G>T (p.Gln134His) c.453G>T (p.Gln151His) | |
| 17 | g.41769484C>G | CA399505046 | JUP | c.402G>C (p.Gln134His) c.453G>C (p.Gln151His) | |
| 17 | g.41769484C>T | CA500207630 | JUP | c.402G>A (p.Gln134=) c.453G>A (p.Gln151=) | |
| 17 | g.41769485T>A | CA399505047 | JUP | c.401A>T (p.Gln134Leu) c.452A>T (p.Gln151Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769485T>C | CA16043116 | JUP | c.401A>G (p.Gln134Arg) c.452A>G (p.Gln151Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769485T>G | CA399505049 | JUP | c.401A>C (p.Gln134Pro) c.452A>C (p.Gln151Pro) | |
| 17 | g.41769485T= | CA2260176163 | JUP | c.401A= (p.Gln134=) c.452A= (p.Gln151=) | |
| 17 | g.41769486G>A | CA399505054 | JUP | c.400C>T (p.Gln134Ter) c.451C>T (p.Gln151Ter) | gnomAD v4 |
| 17 | g.41769486G>C | CA399505056 | JUP | c.400C>G (p.Gln134Glu) c.451C>G (p.Gln151Glu) | |
| 17 | g.41769486G>T | CA399505057 | JUP | c.400C>A (p.Gln134Lys) c.451C>A (p.Gln151Lys) | |
| 17 | g.41769487G>A | CA500207631 | JUP | c.399C>T (p.Tyr133=) c.450C>T (p.Tyr150=) | |
| 17 | g.41769487G>C | CA399505060 | JUP | c.399C>G (p.Tyr133Ter) c.450C>G (p.Tyr150Ter) | |
| 17 | g.41769487G>T | CA399505058 | JUP | c.399C>A (p.Tyr133Ter) c.450C>A (p.Tyr150Ter) | |
| 17 | g.41769488T>A | CA399505062 | JUP | c.398A>T (p.Tyr133Phe) c.449A>T (p.Tyr150Phe) | |
| 17 | g.41769488T>C | CA399505071 | JUP | c.398A>G (p.Tyr133Cys) c.449A>G (p.Tyr150Cys) | |
| 17 | g.41769488T>G | CA399505063 | JUP | c.398A>C (p.Tyr133Ser) c.449A>C (p.Tyr150Ser) | dbSNP |
| 17 | g.41769488T= | CA2260176164 | JUP | c.398A= (p.Tyr133=) c.449A= (p.Tyr150=) | |
| 17 | g.41769489A>C | CA399505073 | JUP | c.397T>G (p.Tyr133Asp) c.448T>G (p.Tyr150Asp) | |
| 17 | g.41769489A>G | CA399505077 | JUP | c.397T>C (p.Tyr133His) c.448T>C (p.Tyr150His) | |
| 17 | g.41769489A>T | CA399505075 | JUP | c.397T>A (p.Tyr133Asn) c.448T>A (p.Tyr150Asn) | |
| 17 | g.41769490G>A | CA8565506 | JUP | c.396C>T (p.Asn132=) c.447C>T (p.Asn149=) | ClinVar dbSNP ExAC |
| 17 | g.41769490G>C | CA399505080 | JUP | c.396C>G (p.Asn132Lys) c.447C>G (p.Asn149Lys) | |
| 17 | g.41769490G= | CA2260176165 | JUP | c.396C= (p.Asn132=) c.447C= (p.Asn149=) | |
| 17 | g.41769490G>T | CA399505079 | JUP | c.396C>A (p.Asn132Lys) c.447C>A (p.Asn149Lys) | COSMIC |
| 17 | g.41769491T>A | CA399505082 | JUP | c.395A>T (p.Asn132Ile) c.446A>T (p.Asn149Ile) | |
| 17 | g.41769491T>C | CA399505086 | JUP | c.395A>G (p.Asn132Ser) c.446A>G (p.Asn149Ser) | |
| 17 | g.41769491T>G | CA399505084 | JUP | c.395A>C (p.Asn132Thr) c.446A>C (p.Asn149Thr) | |
| 17 | g.41769491_41769494delinsTTGA | CA2260176166 | JUP | c.392_395delinsTCAA (p.Ile131=) c.443_446delinsTCAA (p.Ile148=) | |
| 17 | g.41769492T>A | CA399505088 | JUP | c.394A>T (p.Asn132Tyr) c.445A>T (p.Asn149Tyr) | |
| 17 | g.41769492T>C | CA399505090 | JUP | c.394A>G (p.Asn132Asp) c.445A>G (p.Asn149Asp) | |
| 17 | g.41769492T>G | CA399505092 | JUP | c.394A>C (p.Asn132His) c.445A>C (p.Asn149His) | |
| 17 | g.41769495_41769497del | CA16609792 | JUP | c.392_394del (p.Ile131del) c.443_445del (p.Ile148del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769493G>A | CA500207632 | JUP | c.393C>T (p.Ile131=) c.444C>T (p.Ile148=) | |
| 17 | g.41769493G>C | CA399505093 | JUP | c.393C>G (p.Ile131Met) c.444C>G (p.Ile148Met) | COSMIC |
| 17 | g.41769493G>T | CA500207633 | JUP | c.393C>A (p.Ile131=) c.444C>A (p.Ile148=) |